Disease Risk Table
Optional title
Below are the carrier rates, detection rates, and residual risks for the conditions on this panel. A negative carrier screening result reduces the risk for a patient to be a carrier of a specific disease but does not completely rule out carrier status. Patients with a family history for a specific genetic disease will have a higher carrier risk prior to testing and, if the disease-causing mutation in their family is not included on the test, their carrier risk would remain unchanged. Genetic counseling is recommended for patients with a family history of genetic disease so that risk figures based on actual family history can be determined and discussed along with potential implications for reproduction.
The analytic detection rate and residual risks derived from these rates are displayed below. The analytic detection rates is a methodology-based detection rate. This rate represents the percentage of pathogenic variants in a gene that the method/s used to screen a certain gene can detect. If you are interested in mutation based detection rates, please contact Natera.
| TITLE | GENE/REF SEQ # | ETHNICITY | CARRIER RATE | RESIDUAL RISK | DETECTION RATE |
|---|---|---|---|---|---|
17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency |
HSD17B3 (NM_000197.1) | General population | <1 in 500 | 1 in 49901 | 99% |
3-Beta-Hydroxysteroid Dehydrogenase Deficiency, Type II |
HSD3B2 (NM_000198.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency |
HSD3B2 (NM_ 000198.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency |
HSD3B2 (NM_000198.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency |
HMGCL (NM_000191.2) | General population | < 1 in 500 | 1 in 8318 | 94% |
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency |
HMGCL (NM_000191.2) | General population | < 1 in 500 | 1 in 49901 | 99% |
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency |
HMGCL (NM_ 000191.2) | General population | < 1 in 500 | 1 in 8318 | 94% |
3-Hydroxyacyl-CoA Dehydrogenase Deficiency |
HADH (NM_005327.4) | General population | <1 in 500 | 1 in 49901 | 99% |
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency |
MCCC1 (NM_ 020166.4) | Caucasian | 1 in 137 | 1 in 1134 | 88% |
| General population | 1 in 147 | 1 in 2921 | >95% | ||
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency |
MCCC1 (NM_020166.4) | Caucasian | 1 in 137 | 1 in 1134 | 88% |
| General population | 1 in 147 | 1 in 2921 | >95% | ||
3-Methylcrotonyl-CoA Carboxylase 1 Deficiency |
MCCC1 (NM_020166.4) | Caucasian | 1 in 137 | 1 in 13601 | 99% |
| General population | 1 in 147 | 1 in 14601 | 99% | ||
3-Methylcrotonyl-CoA Carboxylase 2 Deficiency |
MCCC2 (NM_022132.4) | Caucasian | 1 in 112 | 1 in 11101 | 99% |
| General population | 1 in 120 | 1 in 11901 | 99% | ||
3-Methylcrotonyl-CoA Carboxylase 2 Deficiency |
MCCC2 (NM_ 022132.4) | Caucasian | 1 in 112 | 1 in 1234 | 91% |
| General population | 1 in 120 | 1 in 2381 | >95% | ||
3-Methylcrotonyl-CoA Carboxylase 2 Deficiency |
MCCC2 (NM_022132.4) | Caucasian | 1 in 112 | 1 in 1234 | 91% |
| General population | 1 in 120 | 1 in 2381 | >95% | ||
3-Methylglutaconic Aciduria, Type III |
OPA3 (NM_025136.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Iraqi | 1 in 13 | 1 in 241 | >95% | ||
3-Phosphoglycerate Dehydrogenase Deficiency |
PHGDH (NM_006623.3) | Ashkenazi Jewish | 1 in 453 | 1 in 9041 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
3-Phosphoglycerate Dehydrogenase Deficiency |
PHGDH (NM_006623.3) | Ashkenazi Jewish | 1 in 453 | 1 in 45201 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
3-Phosphoglycerate Dehydrogenase Deficiency |
PHGDH (NM_ 006623.3) | Ashkenazi Jewish | 1 in 453 | 1 in 9041 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
5-Alpha-Reductase Deficiency |
SRD5A2 (NM_000348.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency |
PTS (NM_ 000317.2) | Asian | 1 in 122 | 1 in 2421 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency |
PTS (NM_000317.2) | Asian | 1 in 122 | 1 in 2421 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency |
PTS (NM_000317.2) | Asian | 1 in 122 | 1 in 12101 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Abca4-Related Conditions |
ABCA4 (NM_000350.2) | General population | 1 in 45 | 1 in 4401 | 99% |
Abetalipoproteinemia |
MTTP (NM_000253.3) | Ashkenazi Jewish | 1 in 186 | 1 in 18501 | 99% |
| Caucasian | < 1 in 500 | 1 in 49901 | 99% | ||
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Abetalipoproteinemia |
MTTP (NM_ 000253.3) | Ashkenazi Jewish | 1 in 186 | 1 in 3701 | >95% |
| Caucasian | < 1 in 500 | 1 in 9981 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | 95% | ||
Abetalipoproteinemia |
MTTP (NM_000253.3) | Ashkenazi Jewish | 1 in 186 | 1 in 3701 | >95% |
| Caucasian | < 1 in 500 | 1 in 9981 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | 95% | ||
Achondrogenesis, Type 1B |
SLC26A2 (NM_000112.3) | Finnish | 1 in 50 | 1 in 4901 | 99% |
| General population | 1 in 158 | 1 in 15701 | 99% | ||
Achondrogenesis, Type 1B |
SLC26A2 (NM_ 000112.3) | Finnish | 1 in 50 | 1 in 981 | >95% |
| General population | 1 in 158 | 1 in 3141 | >95% | ||
Achromatopsia, CNGB3-Related |
CNGB3 (NM_ 019098.4) | Caucasian | 1 in 91 | 1 in 1801 | >95% |
| General population | 1 in 98 | 1 in 1941 | >95% | ||
Achromatopsia, CNGB3-Related |
CNGB3 (NM_019098.4) | Caucasian | 1 in 91 | 1 in 1801 | >95% |
| General population | 1 in 98 | 1 in 1941 | >95% | ||
Achromatopsia, CNGB3-Related |
CNGB3 (NM_019098.4) | Caucasian | 1 in 91 | 1 in 9001 | 99% |
| General population | 1 in 98 | 1 in 9701 | 99% | ||
Acrodermatitis Enteropathica |
SLC39A4 (NM_130849.3) | General population | 1 in 354 | 1 in 35301 | 99% |
Acrodermatitis Enteropathica |
SLC39A4 (NM_ 130849.3) | General population | 1 in 354 | 1 in 7061 | >95% |
Acrodermatitis Enteropathica |
SLC39A4 (NM_130849.3) | General population | 1 in 354 | 1 in 7061 | >95% |
Action Myoclonus–Renal Failure (AMRF) Syndrome |
SCARB2 (NM_005506.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Acute Infantile Liver Failure |
TRMU (NM_018006.4) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Yemenite | 1 in 34 | 1 in 551 | 94% | ||
Acute Infantile Liver Failure, TRMU-Related |
TRMU (NM_018006.4) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Sephardic Jewish - Yemenite | 1 in 34 | 1 in 3301 | 99% | ||
Acute Infantile Liver Failure, TRMU-Related |
TRMU (NM_ 018006.4) | Sephardic Jewish - Yemenite | 1 in 34 | 1 in 551 | 94% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Acyl-CoA Oxidase I Deficiency |
ACOX1 (NM_ 004035.6) | General population | <1 in 500 | 1 in 5545 | 91% |
Acyl-CoA Oxidase I Deficiency |
ACOX1 (NM_004035.6) | General population | <1 in 500 | 1 in 5545 | 91% |
Acyl-CoA Oxidase I Deficiency |
ACOX1 (NM_004035.6) | General population | < 1 in 500 | 1 in 49901 | 99% |
Adenosine Deaminase Deficiency |
ADA (NM_000022.2) | General population | 1 in 337 | 1 in 6721 | >95% |
Adrenal Hypoplasia Congenita, X-Linked |
NR0B1 (NM_000475.4) | General population | 1 in 52500 | 1 in 5249901 | 99% |
Adrenoleukodystrophy, X-Linked |
ABCD1 (NM_000033.3) | General population | 1 in 10500 | 1 in 70000 | 85% |
| Sephardic Jewish | 1 in 10500 | 1 in 210000 | >95% | ||
Adrenoleukodystrophy, X-Linked |
ABCD1 (NM_ 000033.3) | General population | <1 in 500 | 1 in 3328 | 85% |
| Sephardic Jewish | <1 in 500 | 1 in 9981 | >95% | ||
Adrenoleukodystrophy, X-Linked |
ABCD1 (NM_000033.3) | General population | 1 in 10500 | 1 in 1049901 | 99% |
| Sephardic Jewish | 1 in 10500 | 1 in 1049901 | 99% | ||
Agammaglobulinemia, X-Linked |
BTK (NM_000061.2) | General population | 1 in 250000 | 1 in 24999901 | 99% |
Aicardi-Goutières Syndrome |
SAMHD1 (NM_015474.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
Aicardi-Goutières Syndrome |
SAMHD1 (NM_ 015474.3) | General population | < 1 in 500 | 1 in 7130 | 93% |
Aicardi-Goutières Syndrome, RNASEH2A-Related |
RNASEH2A (NM_006397.2) | General population | <1 in 500 | 1 in 49901 | 99% |
Aicardi-Goutières Syndrome, RNASEH2B-Related |
RNASEH2B (NM_024570.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Aicardi-Goutières Syndrome, RNASEH2C-Related |
RNASEH2C (NM_032193.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Aicardi-Goutières Syndrome, SAMHD1-Related |
SAMHD1 (NM_015474.3) | General population | < 1 in 500 | 1 in 7130 | 93% |
Aicardi-Goutières Syndrome, Trex1-Related |
TREX1 (NM_033629.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Alkaptonuria |
HGD (NM_000187.3) | General population | 1 in 250 | 1 in 24900 | 99% |
Alpha-1 Antitrypsin Deficiency |
SERPINA1 (NM_000295.4) | General population | 1 in 38 | 1 in 3701 | 99% |
| Northern European Caucasian | 1 in 15 | 1 in 1401 | 99% | ||
| Ashkenazi Jewish | 1 in 24 | 1 in 2301 | 99% | ||
Alpha-Mannosidosis |
MAN2B1 (NM_ 000528.3) | Caucasian | 1 in 485 | 1 in 8068 | 94% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Alpha-Mannosidosis |
MAN2B1 (NM_000528.3) | Caucasian | 1 in 485 | 1 in 8068 | 94% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Alpha-Mannosidosis |
MAN2B1 (NM_000528.3) | Caucasian | 1 in 485 | 1 in 48401 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Alpha-Thalassemia |
HBA1/HBA2 (NM_000558.4; NM_000517.4) | African American | 1 in 30 | 1 in 2901 | 99% |
| Asian | 1 in 20 | 1 in 1901 | 99% | ||
| Caucasian | < 1 in 500 | 1 in 49901 | 99% | ||
| General population | 1 in 25 | 1 in 2401 | 99% | ||
Alpha-Thalassemia |
HBA1/HBA2 (NM_000558.5; NM_000517.6) | African American | 1 in 30 | 1 in 291 | 90% |
| Asian | 1 in 20 | 1 in 191 | 90% | ||
| Caucasian | 1 in 500 | 1 in 4991 | 90% | ||
| General population | 1 in 25 | 1 in 241 | 90% | ||
Alpha-Thalassemia |
HBA1/HBA2 (NM_000558.4; NM_000517.4) | African American | 1 in 30 | 1 in 291 | 90% |
| Asian | 1 in 20 | 1 in 191 | 90% | ||
| Caucasian | <1 in 500 | 1 in 4991 | 90% | ||
| General population | 1 in 25 | 1 in 241 | 90% | ||
Alpha-Thalassemia Intellectual Disability Syndrome |
ATRX (NM_000489.4) | General population | < 1 in 750000 | 1 in 74999901 | 99% |
Alpha-Thalassemia Intellectual Disability Syndrome |
ATRX (NM_ 000489.4) | General population | < 1 in 500 | 1 in 9981 | 95% |
Alpha-Thalassemia Intellectual Disability Syndrome, X-Linked |
ATRX (NM_000489.4) | General population | < 1 in 750000 | 1 in 1000000 | 95% |
Alport Syndrome, COL4A3-Related |
COL4A3 (NM_000091.4) | Ashkenazi Jewish | 1 in 192 | 1 in 3821 | >95% |
| Caucasian | 1 in 284 | 1 in 5661 | 95% | ||
| General population | 1 in 354 | 1 in 7061 | >95% | ||
Alport Syndrome, COL4A3-Related |
COL4A3 (NM_ 000091.4) | Ashkenazi Jewish | 1 in 192 | 1 in 3821 | >95% |
| Caucasian | 1 in 284 | 1 in 5661 | 95% | ||
| General population | 1 in 354 | 1 in 7061 | >95% | ||
Alport Syndrome, COL4A3-Related |
COL4A3 (NM_000091.4) | Ashkenazi Jewish | 1 in 189 | 1 in 18801 | 99% |
| Caucasian | 1 in 284 | 1 in 28301 | 99% | ||
| General population | 1 in 323 | 1 in 32201 | 99% | ||
Alport Syndrome, COL4A4-Related |
COL4A4 (NM_000092.4) | General population | 1 in 353 | 1 in 35201 | 99% |
Alport Syndrome, COL4A4-Related |
COL4A4 (NM_000092.4) | General population | 1 in 353 | 1 in 7041 | >95% |
Alport Syndrome, COL4A4-Related |
COL4A4 (NM_ 000092.4) | General population | 1 in 353 | 1 in 7041 | >95% |
Alport Syndrome, COL4A5-Related, X-Linked |
COL4A5 (NM_000495.3) | General population | 1 in 47000 | 1 in 390000 | 88% |
Alport Syndrome, X-Linked |
COL4A5 (NM_000495.4) | General population | 1 in 47000 | 1 in 4699901 | 99% |
Alport Syndrome, X-Linked |
COL4A5 (NM_000495.3) | General population | < 1 in 500 | 1 in 4159 | 88% |
Alstrom Syndrome |
ALMS1 (NM_ 015120.4) | General population | 1 in 500 | 1 in 9981 | >95% |
Alstrom Syndrome |
ALMS1 (NM_015120.4) | General population | <1 in 500 | 1 in 9981 | >95% |
Alstrom Syndrome |
ALMS1 (NM_015120.4) | General population | < 1 in 500 | 1 in 49901 | 99% |
Amish Infantile Epilepsy Syndrome |
ST3GAL5 (NM_003896.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Andermann Syndrome |
SLC12A6 (NM_133647.1) | French Canadian | 1 in 23 | 1 in 2201 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Andermann Syndrome |
SLC12A6 (NM_ 133647.1) | French Canadian | 1 in 23 | 1 in 441 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Andermann Syndrome (Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum) |
SLC12A6 (NM_133647.1) | French Canadian | 1 in 23 | 1 in 441 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Androgen Insensitivity Syndrome |
AR (NM_000044.3) | General population | 1 in 5000 | 1 in 499901 | 99% |
Arginine:Glycine Amidinotransferase Deficiency (Agat Deficiency) |
GATM (NM_001482.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Argininemia |
ARG1 (NM_000045.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
Argininosuccinate Aciduria |
ASL (NM_000048.3) | General population | 1 in 274 | 1 in 5461 | >95% |
Argininosuccinate Lyase Deficiency |
ASL (NM_000048.3) | General population | 1 in 133 | 1 in 13201 | 99% |
Argininosuccinate Lyase Deficiency |
ASL (NM_000048.3) | General population | 1 in 274 | 1 in 5461 | >95% |
Aromatase Deficiency |
CYP19A1 (NM_ 031226.2) | General population | < 1 in 500 | 1 in 2627 | 81% |
Aromatase Deficiency |
CYP19A1 (NM_031226.2) | General population | < 1 in 500 | 1 in 2627 | 81% |
Aromatase Deficiency |
CYP19A1 (NM_031226.2) | General population | < 1 in 500 | 1 in 49901 | 99% |
Arthrogryposis, Mental Retardation, and Seizures |
SLC35A3 (NM_012243.2) | Ashkenazi Jewish | 1 in 453 | 1 in 9041 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Arts Syndrome |
PRPS1 (NM_002764.3) | General population | 1 in 500000 | 1 in 49999901 | 99% |
Asparagine Synthetase Deficiency |
ASNS (NM_001673.4) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Iranian | 1 in 80 | 1 in 1581 | >95% | ||
Asparagine Synthetase Deficiency |
ASNS (NM_001673.4) | Sephardic Jewish - Iranian | 1 in 80 | 1 in 1581 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Asparagine Synthetase Deficiency |
ASNS (NM_133436.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Sephardic Jewish - Iranian | 1 in 80 | 1 in 7901 | 99% | ||
Aspartylglycosaminuria |
AGA (NM_000027.3) | Caucasian | < 1 in 500 | 1 in 49901 | 99% |
| Finnish | 1 in 36 | 1 in 3501 | 99% | ||
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Aspartylglycosaminuria |
AGA (NM_000027.3) | Caucasian | <1 in 500 | 1 in 9981 | >95% |
| Finnish | 1 in 63 | 1 in 1241 | >95% | ||
| General population | <1 in 500 | 1 in 9981 | >95% | ||
Aspartylglycosaminuria |
AGA (NM_ 000027.3) | Caucasian | <1 in 500 | 1 in 9981 | >95% |
| Finnish | 1 in 63 | 1 in 1241 | >95% | ||
| General population | <1 in 500 | 1 in 9981 | >95% | ||
Ataxia with Vitamin E Deficiency |
TTPA (NM_ 000370.3) | Caucasian | < 1 in 500 | 1 in 4991 | 90% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Ataxia with Vitamin E Deficiency |
TTPA (NM_000370.3) | Caucasian | < 1 in 500 | 1 in 49901 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Ataxia with Vitamin E Deficiency |
TTPA (NM_000370.3) | Caucasian | < 1 in 500 | 1 in 4991 | 90% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Ataxia-Telangiectasia |
ATM (NM_000051.3) | Ashkenazi Jewish | < 1 in 500 | 1 in 9981 | >95% |
| General population | 1 in 100 | 1 in 1101 | 91% | ||
| Sephardic Jewish - Moroccan | 1 in 69 | 1 in 1361 | >95% | ||
Ataxia-Telangiectasia |
ATM (NM_000051.3) | Ashkenazi Jewish | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Moroccan | 1 in 69 | 1 in 1361 | >95% | ||
| General population | 1 in 100 | 1 in 1101 | 91% | ||
Ataxia-Telangiectasia |
ATM (NM_000051.3) | Ashkenazi Jewish | < 1 in 500 | 1 in 49901 | 99% |
| General population | 1 in 100 | 1 in 9901 | 99% | ||
| Sephardic Jewish - Moroccan | 1 in 81 | 1 in 8001 | 99% | ||
Ataxia-Telangiectasia-Like Disorder 1 |
MRE11 (NM_005591.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Atransferrinemia |
TF (NM_001063.4) | General population | 1 in 116 | 1 in 11501 | 99% |
Autism Spectrum, Epilepsy and Arthrogryposis |
SLC35A3 (NM_012243.2) | Ashkenazi Jewish | 1 in 453 | 1 in 45201 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Autism Spectrum, Epilepsy and Arthrogryposis |
SLC35A3 (NM_ 012243.2) | Ashkenazi Jewish | 1 in 453 | 1 in 9041 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Autoimmune Polyglandular Syndrome, Type 1 |
AIRE (NM_000383.2) | Finnish | 1 in 79 | 1 in 1561 | >95% |
| Sardinian | 1 in 60 | 1 in 1181 | 95% | ||
| Sephardic Jewish - Iranian | 1 in 27 | 1 in 521 | >95% | ||
| General population | 1 in 354 | 1 in 7061 | >95% | ||
Autoimmune Polyglandular Syndrome, Type 1 |
AIRE (NM_000383.2) | Finnish | 1 in 79 | 1 in 1561 | >95% |
| General population | 1 in 354 | 1 in 7061 | >95% | ||
| Sardinian | 1 in 60 | 1 in 1181 | 95% | ||
| Sephardic Jewish - Iranian | 1 in 27 | 1 in 521 | >95% | ||
Autoimmune Polyglandular Syndrome, Type 1 |
AIRE (NM_000383.3) | Finnish | 1 in 79 | 1 in 7801 | 99% |
| General population | 1 in 354 | 1 in 35301 | 99% | ||
| Sardinian | 1 in 60 | 1 in 5901 | 99% | ||
| Sephardic Jewish - Iranian | 1 in 27 | 1 in 2601 | 99% | ||
Autosomal Recessive Congenital Ichthyosis (Arci), Slc27A4-Related |
SLC27A4 (NM_005094.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Autosomal Recessive Polycystic Kidney Disease |
PKHD1 (NM_138694.3) | Ashkenazi Jewish | 1 in 106 | 1 in 2101 | >95% |
| Caucasian | 1 in 100 | 1 in 1981 | >95% | ||
| General population | 1 in 144 | 1 in 2861 | >95% | ||
| South African Afrikaner | 1 in 52 | 1 in 1021 | >95% | ||
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay |
SACS (NM_014363.5) | Caucasian | 1 in 450 | 1 in 44901 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
| French Canadian - Charlevoix-Saguenay | 1 in 21 | 1 in 2001 | 99% | ||
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay |
SACS (NM_ 014363.5) | Caucasian | 1 in 450 | 1 in 8981 | >95% |
| French Canadian - Charlevoix-Saguenay | 1 in 21 | 1 in 401 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Bardet-Biedl Syndrome, Arl6-Related |
ARL6 (NM_177976.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
| Newfoundland | 1 in 289 | 1 in 28801 | 99% | ||
Bardet-Biedl Syndrome, BBS1-Related |
BBS1 (NM_ 024649.4) | Faroese | 1 in 30 | 1 in 581 | >95% |
| General population | 1 in 392 | 1 in 7821 | >95% | ||
Bardet-Biedl Syndrome, BBS1-Related |
BBS1 (NM_024649.4) | Faroese | 1 in 30 | 1 in 2901 | 99% |
| General population | 1 in 265 | 1 in 26401 | 99% | ||
Bardet-Biedl Syndrome, BBS1-Related |
BBS1 (NM_024649.4) | Faroese | 1 in 30 | 1 in 581 | >95% |
| General population | 1 in 392 | 1 in 7821 | >95% | ||
Bardet-Biedl Syndrome, BBS10-Related |
BBS10 (NM_024685.3) | General population | 1 in 423 | 1 in 8441 | >95% |
Bardet-Biedl Syndrome, BBS10-Related |
BBS10 (NM_024685.3) | General population | 1 in 447 | 1 in 44601 | 99% |
Bardet-Biedl Syndrome, BBS10-Related |
BBS10 (NM_ 024685.3) | General population | 1 in 423 | 1 in 8441 | >95% |
Bardet-Biedl Syndrome, BBS12-Related |
BBS12 (NM_1 52618.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Bardet-Biedl Syndrome, BBS12-Related |
BBS12 (NM_152618.2) | General population | < 1 in 500 | 1 in 49901 | 99% |
Bardet-Biedl Syndrome, BBS12-Related |
BBS12 (NM_1 52618.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Bardet-Biedl Syndrome, BBS2-Related |
BBS2 (NM_031885.3) | Ashkenazi Jewish | 1 in 140 | 1 in 2781 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
| Hutterites | 1 in 22 | 1 in 421 | >95% | ||
Bardet-Biedl Syndrome, BBS2-Related |
BBS2 (NM_031885.3) | Ashkenazi Jewish | 1 in 135 | 1 in 13401 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
| Hutterites | 1 in 22 | 1 in 2101 | 99% | ||
Bardet-Biedl Syndrome, BBS2-Related |
BBS2 (NM_ 031885.3) | Ashkenazi Jewish | 1 in 140 | 1 in 2781 | >95% |
| Hutterite | 1 in 22 | 1 in 421 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Bardet-Biedl Syndrome, BBS4-Related |
BBS4 (NM_033028.4) | General population | <1 in 500 | 1 in 49901 | 99% |
Bardet-Biedl Syndrome, BBS7-Related |
BBS7 (NM_176824.2) | General population | <1 in 500 | 1 in 49901 | 99% |
Bardet-Biedl Syndrome, BBS9-Related |
BBS9 (NM_198428.2) | General population | <1 in 500 | 1 in 49901 | 99% |
Bardet-Biedl Syndrome, Bbs5-Related |
BBS5 (NM_152384.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Bardet-Biedl Syndrome, TTC8-Related |
TTC8 (NM_198309.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Bare Lymphocyte Syndrome, Type II |
CIITA (NM_000246.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Bare Lymphocyte Syndrome, CIITA-Related |
CIITA (NM_000246.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
Bare Lymphocyte Syndrome, CIITA-Related |
CIITA (NM_ 000246.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Barth Syndrome |
TAZ (NM_000116.4) | General population | 1 in 225000 | 1 in 22499901 | 99% |
Bartter Syndrome, BSND-Related |
BSND (NM_ 057176.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Bartter Syndrome, BSND-Related |
BSND (NM_057176.2) | General population | < 1 in 500 | 1 in 49901 | 99% |
Bartter Syndrome, Kcnj1-Related |
KCNJ1 (NM_000220.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Bartter Syndrome, Slc12A1-Related |
SLC12A1 (NM_000338.2) | General population | 1 in 360 | 1 in 35901 | 99% |
Bartter Syndrome, Type IV |
BSND (NM_057176.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Batten Disease, CLN3-Related |
CLN3 (NM_001042432.1) | Caucasian | 1 in 188 | 1 in 18701 | 99% |
| General population | 1 in 145 | 1 in 14401 | 99% | ||
Batten Disease, CLN3-Related |
CLN3 (NM_ 000086.2) | Caucasian | 1 in 188 | 1 in 3741 | >95% |
| General population | 1 in 233 | 1 in 4641 | >95% | ||
Bernard-Soulier Syndrome, Type A1/A2 |
GP1BA (NM_000173) | General population | < 1 in 500 | 1 in 49901 | 99% |
Bernard-Soulier Syndrome, Type C |
GP9 (NM_000174.4) | General population | <1 in 500 | 1 in 49901 | 99% |
Beta-Hemoglobinopathies |
HBB (NM_ 000518.4) | African American | 1 in 8 | 1 in 141 | >95% |
| Asian | 1 in 54 | 1 in 1061 | >95% | ||
| Caucasian | 1 in 373 | 1 in 7441 | >95% | ||
| Hispanic | 1 in 17 | 1 in 321 | >99% | ||
| Mediterranean | 1 in 28 | 1 in 541 | >95% | ||
| General population | 1 in 49 | 1 in 961 | >95% | ||
Beta-Hemoglobinopathies |
HBB (NM_000518.4) | African American | 1 in 8 | 1 in 141 | >95% |
| Asian | 1 in 54 | 1 in 1061 | >95% | ||
| Caucasian | 1 in 373 | 1 in 7441 | >95% | ||
| General population | 1 in 49 | 1 in 961 | >95% | ||
| Hispanic | 1 in 17 | 1 in 321 | >99% | ||
| Mediterranean | 1 in 28 | 1 in 541 | >95% | ||
Beta-Hemoglobinopathies |
HBB (NM_000518.4) | African American | 1 in 10 | 1 in 901 | 99% |
| Asian | 1 in 54 | 1 in 5301 | 99% | ||
| Caucasian | 1 in 373 | 1 in 37201 | 99% | ||
| East Asian | 1 in 78 | 1 in 7701 | 99% | ||
| General population | 1 in 129 | 1 in 12801 | 99% | ||
| Hispanic | 1 in 83 | 1 in 8201 | 99% | ||
| Mediterranean | 1 in 28 | 1 in 2701 | 99% | ||
| Middle Eastern | 1 in 5 | 1 in 401 | 99% | ||
| South Asian | 1 in 32 | 1 in 3101 | 99% | ||
| Southeast Asian | 1 in 30 | 1 in 2901 | 99% | ||
Beta-Ketothiolase Deficiency |
ACAT1 (NM_000019.3) | Asian | 1 in 289 | 1 in 28801 | 99% |
| Caucasian | 1 in 354 | 1 in 35301 | 99% | ||
| General population | 1 in 347 | 1 in 34601 | 99% | ||
Beta-Ketothiolase Deficiency |
ACAT1 (NM_ 000019.3) | Asian | 1 in 289 | 1 in 5761 | >95% |
| Caucasian | 1 in 354 | 1 in 1308 | 73% | ||
| General population | 1 in 347 | 1 in 6921 | >95% | ||
Beta-Mannosidosis |
MANBA (NM_005908.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Beta-Ureidopropionase Deficiency |
UPB1 (NM_016327.2) | General population | <1 in 500 | 1 in 49901 | 99% |
Beta-ketothiolase Deficiency |
ACAT1 (NM_000019.3) | Asian | 1 in 289 | 1 in 5761 | >95% |
| Caucasian | 1 in 354 | 1 in 1308 | 73% | ||
| General population | 1 in 347 | 1 in 6921 | >95% | ||
Bilateral Frontoparietal Polymicrogyria |
GPR56 (NM_005682.6) | General population | < 1 in 500 | 1 in 49901 | 99% |
Bilateral Frontoparietal Polymicrogyria |
GPR56 (NM_005682.6) | General population | < 1 in 500 | 1 in 9981 | >95% |
Bilateral Frontoparietal Polymicrogyria |
GPR56 (ADGRG1) (NM_005682.6) | General population | < 1 in 500 | 1 in 9981 | >95% |
Biotin-Thiamine-Responsive Basal Ganglia Disease (BTBGD) |
SLC19A3 (NM_025243.4) | General population | 1 in 109 | 1 in 10801 | 99% |
| Middle Eastern | 1 in 500 | 1 in 49901 | 99% | ||
Biotinidase Deficiency |
BTD (NM_ 000060.3) | Caucasian | 1 in 12 | 1 in 80 | 86% |
| Hispanic | 1 in 30 | 1 in 581 | >95% | ||
| General population | 1 in 25 | 1 in 481 | >95% | ||
Biotinidase Deficiency |
BTD (NM_000060.4) | Caucasian | 1 in 12 | 1 in 1101 | 99% |
| General population | 1 in 120 | 1 in 11901 | 99% | ||
| Hispanic | 1 in 30 | 1 in 2901 | 99% | ||
Biotinidase Deficiency |
BTD (NM_000060.3) | Caucasian | 1 in 12 | 1 in 80 | 86% |
| General population | 1 in 25 | 1 in 481 | >95% | ||
| Hispanic | 1 in 30 | 1 in 581 | >95% | ||
Bloom Syndrome |
BLM (NM_000057.2) | Ashkenazi Jewish | 1 in 134 | 1 in 2661 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Bloom Syndrome |
BLM (NM_000057.4) | Ashkenazi Jewish | 1 in 134 | 1 in 2661 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Bloom Syndrome |
BLM (NM_000057.3) | Ashkenazi Jewish | 1 in 140 | 1 in 13901 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Brittle Cornea Syndrome 1 |
ZNF469 (NM_001127464.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Brittle Cornea Syndrome 2 |
PRDM5 (NM_018699.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
CLN10 Disease |
CTSD (NM_001909.4) | General population | <1 in 500 | 1 in 49901 | 99% |
CRB1-Related Retinal Dystrophies |
CRB1 (NM_ 201253.2) | General population | 1 in 112 | 1 in 2221 | >95% |
CRB1-Related Retinal Dystrophies |
CRB1 (NM_201253.2) | General population | 1 in 112 | 1 in 11101 | 99% |
CRB1-Related Retinal Dystrophies |
CRB1 (NM_201253.2) | General population | 1 in 112 | 1 in 2221 | >95% |
Canavan Disease |
ASPA (NM_000049.2) | Ashkenazi Jewish | 1 in 60 | 1 in 5901 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Canavan Disease |
ASPA (NM_000049.2) | Ashkenazi Jewish | 1 in 55 | 1 in 1081 | >95% |
| General population | 1 in 158 | 1 in 3141 | 95% | ||
Canavan Disease |
ASPA (NM_000049.3) | Ashkenazi Jewish | 1 in 55 | 1 in 1081 | >95% |
| General population | 1 in 158 | 1 in 3141 | 95% | ||
Carbamoyl Phosphate Synthetase I Deficiency |
CPS1 (NM_ 001875.4) | Asian | 1 in 447 | 1 in 2788 | 84% |
| Caucasian | 1 in 284 | 1 in 2022 | 86% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Carbamoyl Phosphate Synthetase I Deficiency |
CPS1 (NM_001875.4) | Asian | 1 in 447 | 1 in 44601 | 99% |
| Caucasian | 1 in 284 | 1 in 28301 | 99% | ||
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Carbamoyl Phosphate Synthetase I Deficiency |
CPS1 (NM_001875.4) | Asian | 1 in 447 | 1 in 2788 | 84% |
| Caucasian | 1 in 284 | 1 in 2022 | 86% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Carnitine Deficiency |
SLC22A5 (NM_003060.2) | Asian | 1 in 100 | 1 in 522 | 81% |
| Caucasian | 1 in 110 | 1 in 1818 | 94% | ||
| Faroese | 1 in 20 | 1 in 381 | >95% | ||
| General population | 1 in 200 | 1 in 3981 | >95% | ||
Carnitine Deficiency |
SLC22A5 (NM_003060.3) | Asian | 1 in 100 | 1 in 9901 | 99% |
| Caucasian | 1 in 110 | 1 in 10901 | 99% | ||
| Faroese | 1 in 20 | 1 in 1901 | 99% | ||
| General population | 1 in 200 | 1 in 19901 | 99% | ||
Carnitine Deficiency, Systemic Primary |
SLC22A5 (NM_003060.2) | Asian | 1 in 100 | 1 in 522 | 81% |
| Caucasian | 1 in 110 | 1 in 1818 | 94% | ||
| Faroese | 1 in 20 | 1 in 381 | >95% | ||
| General population | 1 in 200 | 1 in 3981 | >95% | ||
Carnitine Palmitoyltransferase IA Deficiency |
CPT1A (NM_001876.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Hutterites | 1 in 16 | 1 in 301 | >95% | ||
Carnitine Palmitoyltransferase IA Deficiency |
CPT1A (NM_001876.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Hutterites | 1 in 16 | 1 in 1501 | 99% | ||
Carnitine Palmitoyltransferase IA Deficiency |
CPT1A (NM_ 001876.3) | Hutterite | 1 in 16 | 1 in 301 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Carnitine Palmitoyltransferase II Deficiency |
CPT2 (NM_ 000098.2) | African American | 1 in 308 | 1 in 6141 | >95% |
| Ashkenazi Jewish | 1 in 45 | 1 in 881 | >95% | ||
| Asian | < 1 in 500 | 1 in 9981 | >95% | ||
| Caucasian | 1 in 200 | 1 in 3981 | >95% | ||
| General population | 1 in 182 | 1 in 3621 | >95% | ||
Carnitine Palmitoyltransferase II Deficiency |
CPT2 (NM_000098.2) | African American | 1 in 308 | 1 in 6141 | >95% |
| Ashkenazi Jewish | 1 in 45 | 1 in 881 | >95% | ||
| Asian | < 1 in 500 | 1 in 9981 | >95% | ||
| Caucasian | 1 in 200 | 1 in 3981 | >95% | ||
| General population | 1 in 182 | 1 in 3621 | >95% | ||
Carnitine Palmitoyltransferase II Deficiency |
CPT2 (NM_000098.2) | African American | 1 in 308 | 1 in 30701 | 99% |
| Ashkenazi Jewish | 1 in 51 | 1 in 5001 | 99% | ||
| Asian | < 1 in 500 | 1 in 49901 | 99% | ||
| Caucasian | 1 in 200 | 1 in 19901 | 99% | ||
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Carnitine-Acylcarnitine Translocase Deficiency |
SLC25A20 (NM_000387.5) | General population | <1 in 500 | 1 in 49901 | 99% |
Carpenter Syndrome |
RAB23 (NM_183227.2) | Caucasian | < 1 in 500 | 1 in 49901 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Carpenter Syndrome |
RAB23 (NM_ 001278667.1) | Caucasian | < 1 in 500 | 1 in 9981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Carpenter Syndrome |
RAB23 (NM_001278667.1) | Caucasian | < 1 in 500 | 1 in 9981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Cartilage-Hair Hypoplasia |
RMRP (NR_ 003051.3) | Amish | 1 in 19 | 1 in 361 | >95% |
| Finnish | 1 in 76 | 1 in 1501 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Cartilage-Hair Hypoplasia |
RMRP (NR_003051.3) | Amish | 1 in 19 | 1 in 1801 | 99% |
| Finnish | 1 in 76 | 1 in 7501 | 99% | ||
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Cartilage-Hair Hypoplasia |
RMRP (NR_ 003051.3) | Amish | 1 in 19 | 1 in 361 | >95% |
| Finnish | 1 in 76 | 1 in 1501 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Catecholaminergic Polymorphic Ventricular Tachycardia |
CASQ2 (NM_001232.3) | General population | 1 in 224 | 1 in 22300 | 99% |
Cd59-Mediated Hemolytic Anemia |
CD59 (NM_203330.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
| Sephardic Jewish - North African | 1 in 66 | 1 in 6501 | 99% | ||
Cep152-Related Microcephaly |
CEP152 (NM_014985.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma (Cednik) Syndrome |
SNAP29 (NM_004782.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Cerebrotendinous Xanthomatosis |
CYP27A1 (NM_ 000784.3) | Sephardic Jewish - Moroccan | 1 in 76 | 1 in 1501 | >95% |
| General population | 1 in 112 | 1 in 2221 | >95% | ||
Cerebrotendinous Xanthomatosis |
CYP27A1 (NM_000784.3) | General population | 1 in 112 | 1 in 2221 | >95% |
| Sephardic Jewish - Moroccan | 1 in 76 | 1 in 1501 | >95% | ||
Cerebrotendinous Xanthomatosis |
CYP27A1 (NM_000784.3) | General population | 1 in 115 | 1 in 11401 | 99% |
| Sephardic Jewish - Moroccan | 1 in 5 | 1 in 401 | 99% | ||
Charcot-Marie-Tooth Disease with Deafness, X-Linked |
GJB1 (NM_000166.5) | General population | 1 in 3700 | 1 in 369901 | 99% |
Charcot-Marie-Tooth Disease with Deafness, X-Linked |
GJB1 (NM_ 000166.5) | General population | < 1 in 500 | 1 in 9981 | >95% |
Charcot-Marie-Tooth Disease, GJB1-Related, X-Linked |
GJB1 (NM_000166.5) | General population | 1 in 3700 | 1 in 74000 | >95% |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
PLEKHG5 (NM_020631.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Charcot-Marie-Tooth Disease, Type 4D |
NDRG1 (NM_001135242.1) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Roma | 1 in 22 | 1 in 421 | >95% | ||
Charcot-Marie-Tooth Disease, Type 4D |
NDRG1 (NM_006096.4) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Roma | 1 in 22 | 1 in 2101 | 99% | ||
Charcot-Marie-Tooth Disease, Type 4D |
NDRG1 (NM_ 001135242.1) | Roma | 1 in 22 | 1 in 421 | >95% |
| General population | < 1 in 500 | 1 in 9900 | >95% | ||
Chediak-Higashi Syndrome |
LYST (NM_000081.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Cholesteryl Ester Storage Disease |
LIPA (NM_000235.3) | Ashkenazi Jewish | < 1 in 500 | 1 in 9981 | >95% |
| Caucasian | 1 in 145 | 1 in 2881 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
| Sephardic Jewish - Iranian | 1 in 26 | 1 in 501 | >95% | ||
Choreoacanthocytosis |
VPS13A (NM_033305.2) | Ashkenazi Jewish | < 1 in 500 | 1 in 49901 | >99% |
| General population | < 1 in 500 | 1 in 9981 | 95% | ||
Choreoacanthocytosis |
VPS13A (NM_ 033305.2) | Ashkenazi Jewish | unknown | unknown | >95% |
| General population | < 1 in 500 | 1 in 9981 | 95% | ||
Choreoacanthocytosis |
VPS13A (NM_033305.2) | Ashkenazi Jewish | < 1 in 500 | 1 in 49901 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Choroideremia |
CHM (NM_000390.3) | General population | 1 in 25000 | 1 in 2499901 | 99% |
Choroideremia |
CHM (NM_ 000390.2) | General population | < 1 in 500 | 1 in 8318 | 94% |
Choroideremia, X-Linked |
CHM (NM_000390.2) | General population | 1 in 25000 | 420000 | 94% |
Chronic Granulomatous Disease, CYBA-Related |
CYBA (NM_000101.2) | Sephardic Jewish - Moroccan | 1 in 13 | 1 in 241 | >95% |
| General population | < 1 in 500 | 1 in 3328 | 85% | ||
Chronic Granulomatous Disease, CYBA-Related |
CYBA (NM_000101.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Sephardic Jewish - Moroccan | 1 in 13 | 1 in 1201 | 99% | ||
Chronic Granulomatous Disease, Cytochrome b-negative |
CYBA (NM_000101.2) | General population | < 1 in 500 | 1 in 3328 | 85% |
| Sephardic Jewish - Moroccan | 1 in 13 | 1 in 241 | >95% | ||
Chronic Granulomatous Disease, Ncf2-Related |
NCF2 (NM_000433.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Chronic Granulomatous Disease, X-Linked |
CYBB (NM_000397.3) | General population | 1 in 150000 | 1 in 15000000 | 99% |
Chronic Granulomatous Disease, X-Linked |
CYBB (NM_ 000397.3) | General population | < 1 in 500 | 1 in 8318 | 94% |
Chronic Granulomatous, X-Linked |
CYBB (NM_000397.3) | General population | 1 in 180000 | 1 in 1000000 | 94% |
Ciliopathies, RPGRIP1L-Related |
RPGRIP1L (NM_015272.2) | General population | 1 in 259 | 1 in 5161 | >95% |
Ciliopathies, RPGRIP1L-Related |
RPGRIP1L (NM_ 015272.2) | General population | 1 in 259 | 1 in 5161 | >95% |
Ciliopathies, RPGRIP1L-Related |
RPGRIP1L (NM_015272.4) | General population | 1 in 259 | 1 in 25801 | 99% |
Citrin Deficiency |
SLC25A13 (NM_014251.2) | Asian | 1 in 123 | 1 in 12201 | 99% |
| Caucasian | < 1 in 500 | 1 in 49901 | 99% | ||
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Citrin Deficiency |
SLC25A13 (NM_014251.2) | Asian | 1 in 123 | 1 in 2441 | >95% |
| Caucasian | < 1 in 500 | 1 in 9981 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Citrin Deficiency |
SLC25A13 (NM_ 014251.2) | Asian | 1 in 123 | 1 in 2441 | >95% |
| Caucasian | < 1 in 500 | 1 in 9981 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Citrullinemia, Type 1 |
ASS1 (NM_000050.4) | Asian | 1 in 123 | 1 in 1357 | 91% |
| Caucasian | 1 in 195 | 1 in 3881 | >95% | ||
| General population | 1 in 119 | 1 in 2361 | >95% | ||
Citrullinemia, Type 1 |
ASS1 (NM_000050.4) | Asian | 1 in 123 | 1 in 12201 | 99% |
| Caucasian | 1 in 195 | 1 in 19401 | 99% | ||
| General population | 1 in 119 | 1 in 11801 | 99% | ||
Citrullinemia, Type I |
ASS1 (NM_000050.4) | Asian | 1 in 123 | 1 in 1357 | 91% |
| Caucasian | 1 in 195 | 1 in 3881 | >95% | ||
| General population | 1 in 119 | 1 in 2361 | >95% | ||
Cohen Syndrome |
VPS13B (NM_017890.4) | General population | <1 in 500 | 1 in 4991 | 90% |
Cohen Syndrome |
VPS13B (NM_ 017890.4) | General population | 1 in 500 | 1 in 4991 | 90% |
Cohen Syndrome |
VPS13B (NM_017890.4) | General population | < 1 in 500 | 1 in 49901 | 99% |
Col11A2-Related Conditions |
COL11A2 (NM_080680.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Combined Malonic and Methylmalonic Aciduria |
ACSF3 (NM_174917.4) | General population | 1 in 86 | 1 in 8501 | 99% |
Combined Malonic and Methylmalonic Aciduria |
ACSF3 (NM_001127214.3) | General population | 1 in 86 | 1 in 1701 | >95% |
Combined Malonic and Methylmalonic Aciduria |
ACSF3 (NM_ 001127214.3) | General population | 1 in 86 | 1 in 1701 | >95% |
Combined Oxidative Phosphorylation Deficiency 1 |
GFM1 (NM_ 024996.5) | General population | < 1 in 500 | 1 in 9981 | >95% |
Combined Oxidative Phosphorylation Deficiency 1 |
GFM1 (NM_024996.5) | General population | < 1 in 500 | 1 in 49901 | 99% |
Combined Oxidative Phosphorylation Deficiency 3 |
TSFM (NM_001172696.1) | Finnish | 1 in 80 | 1 in 7901 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Combined Oxidative Phosphorylation Deficiency 3 |
TSFM (NM_ 001172696.1) | Finnish | 1 in 80 | 1 in 1581 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Combined Oxidative Phosphorylation Deficiency 3 |
TSFM (NM_001172696.1) | Finnish | 1 in 80 | 1 in 1581 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Combined Oxidative Phosphorylation Defiency 4 |
GFM1 (NM_024996.5) | General population | < 1 in 500 | 1 in 9981 | >95% |
Combined Pituitary Hormone Deficiency 1 |
POU1F1 (NM_000306.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Combined Pituitary Hormone Deficiency 3 |
LHX3 (NM_014564.3) | General population | < 1 in 500 | 1 in 6238 | 92% |
Combined Pituitary Hormone Deficiency-2 |
PROP1 (NM_006261.4) | General population | 1 in 141 | 1 in 14001 | 99% |
Combined Pituitary Hormone Deficiency-2 |
PROP1 (NM_ 006261.4) | General population | 1 in 141 | 1 in 2801 | >95% |
Congenital Adrenal Hyperplasia, 11-Beta-Hydroxylase Deficiency |
CYP11B1 (NM_000497.3) | General population | 1 in 158 | 1 in 15701 | 99% |
Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency |
CYP17A1 (NM_ 000102.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency |
CYP17A1 (NM_000102.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency |
CYP17A1 (NM_000102.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
Congenital Adrenal Hyperplasia; 21-Hydroxylase-Deficient Classical Congenital Adrenal Hyperplasia |
CYP21A2 (NM_000500.7) Classical | Ashkenazi Jewish | 1 in 40 | 1 in 1951 | 98% |
| Caucasian | 1 in 67 | 1 in 3301 | 98% | ||
| General population | 1 in 61 | 1 in 3001 | 98% | ||
Congenital Adrenal Hyperplasia; 21-Hydroxylase-Deficient Non-Classical Congenital Adrenal Hyperplasia |
CYP21A2 (NM_000500.7) Non-Classical | Ashkenazi Jewish | 1 in 7 | 1 in 301 | 98% |
| Caucasian | 1 in 11 | 1 in 501 | 98% | ||
| General population | 1 in 17 | 1 in 801 | 98% | ||
Congenital Adrenal Insufficiency, CYP11A1-Related |
CYP11A1 (NM_000781.2) | General population | 1 in 114 | 1 in 11301 | 99% |
Congenital Amegakaryocytic Thrombocytopenia |
MPL (NM_005373.2) | Ashkenazi Jewish | 1 in 57 | 1 in 5601 | 99% |
| Caucasian | 1 in 266 | 1 in 26501 | 99% | ||
| General population | 1 in 415 | 1 in 41401 | 99% | ||
Congenital Amegakaryocytic Thrombocytopenia |
MPL (NM_ 005373.2) | Ashkenazi Jewish | 1 in 57 | 1 in 1121 | >95% |
| Caucasian | 1 in 266 | 1 in 5301 | >95% | ||
| General population | 1 in 415 | 1 in 8281 | >95% | ||
Congenital Amegakaryocytic Thrombocytopenia |
MPL (NM_005373.2) | Ashkenazi Jewish | 1 in 57 | 1 in 1121 | >95% |
| Caucasian | 1 in 266 | 1 in 5301 | >95% | ||
| General population | 1 in 415 | 1 in 8281 | >95% | ||
Congenital Chronic Diarrhea |
DGAT1 (NM_012079.5) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Congenital Disorder Of Glycosylation Type 1, Alg1-Related |
ALG1 (NM_019109.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Congenital Disorder of Glycosylation, Type 1A, PMM2-Related |
PMM2 (NM_000303.2) | Ashkenazi Jewish | 1 in 61 | 1 in 6001 | 99% |
| Asian | 1 in 449 | 1 in 44801 | 99% | ||
| Caucasian | 1 in 42 | 1 in 4101 | 99% | ||
| General population | 1 in 124 | 1 in 12301 | 99% | ||
Congenital Disorder of Glycosylation, Type 1A, PMM2-Related |
PMM2 (NM_ 000303.2) | Ashkenazi Jewish | 1 in 61 | 1 in 1201 | >95% |
| Asian | 1 in 449 | 1 in 8961 | >95% | ||
| Caucasian | 1 in 42 | 1 in 821 | >95% | ||
| General population | 1 in 124 | 1 in 2461 | >95% | ||
Congenital Disorder of Glycosylation, Type 1B |
MPI (NM_ 001289155.1) | General population | < 1 in 500 | 1 in 9981 | >95% |
Congenital Disorder of Glycosylation, Type 1B |
MPI (NM_002435.2) | General population | < 1 in 500 | 1 in 49901 | 99% |
Congenital Disorder of Glycosylation, Type 1C |
ALG6 (NM_013339.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
Congenital Disorder of Glycosylation, Type 1C |
ALG6 (NM_013339.3) | General population | <1 in 500 | 1 in 9981 | >95% |
Congenital Disorder of Glycosylation, Type 1C |
ALG6 (NM_ 013339.3) | General population | <1 in 500 | 1 in 9981 | >95% |
Congenital Disorder of Glycosylation, Type IB |
MPI (NM_001289155.1) | General population | < 1 in 500 | 1 in 9981 | >95% |
Congenital Dyserythropoietic Anemia Type 2 |
SEC23B (NM_006363.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Congenital Finnish Nephrosis |
NPHS1 (NM_004646.3) | Finnish | 1 in 45 | 1 in 4401 | 99% |
| General population | 1 in 325 | 1 in 32401 | 99% | ||
| Groffdale Conference Mennonites | 1 in 12 | 1 in 1101 | 99% | ||
Congenital Finnish Nephrosis |
NPHS1 (NM_ 004646.3) | Finnish | 1 in 45 | 1 in 881 | >95% |
| Groffdale Conference Mennonite | 1 in 12 | 1 in 221 | >95% | ||
| General population | 1 in 325 | 1 in 6481 | >95% | ||
Congenital Hydrocephalus 1 |
CCDC88C (NM_001080414.3) | General population | 1 in 137 | 1 in 13601 | 99% |
Congenital Hyperinsulinism, KCNJ11-Related |
KCNJ11 (NM_ 000525.3) | General population | 1 in 500 | 1 in 9981 | >95% |
Congenital Hyperinsulinism, KCNJ11-Related |
KCNJ11 (NM_000525.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
Congenital Insensitivity to Pain with Anhidrosis (CIPA) |
NTRK1 (NM_001012331.1) | Asian | 1 in 387 | 1 in 38601 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
| Sephardic Jewish - Moroccan | < 1 in 500 | 1 in 49901 | 99% | ||
Congenital Insensitivity to Pain with Anhidrosis (CIPA) |
NTRK1 (NM_001012331.1) | Asian | 1 in 387 | 1 in 7721 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
| Sephardic Jewish - Moroccan | < 1 in 500 | 1 in 49901 | >99% | ||
Congenital Insensitivity to Pain with Anhidrosis (CIPA) |
NTRK1 (NM_ 001012331.1) | Asian | 1 in 387 | 1 in 7721 | >95% |
| Sephardic Jewish - Moroccan | unknown | unknown | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Congenital Myasthenic Syndrome, CHAT-Related |
CHAT (NM_020549.4) | General population | <1 in 500 | 1 in 49901 | 99% |
Congenital Myasthenic Syndrome, CHRNE-Related |
CHRNE (NM_ 000080.3) | Caucasian | 1 in 383 | 1 in 7641 | >95% |
| Roma - Southeastern European | 1 in 25 | 1 in 481 | >95% | ||
| General population | 1 in 408 | 1 in 8141 | >95% | ||
Congenital Myasthenic Syndrome, CHRNE-Related |
CHRNE (NM_000080.3) | Caucasian | 1 in 383 | 1 in 38201 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Congenital Myasthenic Syndrome, CHRNE-Related |
CHRNE (NM_000080.3) | Caucasian | 1 in 383 | 1 in 7641 | >95% |
| Roma - Southeastern European | 1 in 25 | 1 in 481 | >95% | ||
| General population | 1 in 408 | 1 in 8141 | >95% | ||
Congenital Myasthenic Syndrome, COLQ-Related |
COLQ (NM_005677.3) | General population | 1 in 430 | 1 in 42901 | 99% |
Congenital Myasthenic Syndrome, DOK7-Related |
DOK7 (NM_173660.4) | Caucasian | 1 in 290 | 1 in 28901 | 99% |
| French Canadian | 1 in 353 | 1 in 35201 | 99% | ||
| General population | 1 in 454 | 1 in 45301 | 99% | ||
Congenital Myasthenic Syndrome, RAPSN-Related |
RAPSN (NM_005055.4) | Caucasian | 1 in 176 | 1 in 3501 | >95% |
| General population | 1 in 252 | 1 in 5021 | >95% | ||
| Sephardic Jewish - Iraqi, Iranian | < 1 in 500 | 1 in 49901 | >99% | ||
Congenital Myasthenic Syndrome, RAPSN-Related |
RAPSN (NM_ 005055.4) | Caucasian | 1 in 176 | 1 in 3501 | >95% |
| Sephardic Jewish - Iraqi, Iranian | unknown | unknown | >95% | ||
| General population | 1 in 252 | 1 in 5021 | >95% | ||
Congenital Myasthenic Syndrome, RAPSN-Related |
RAPSN (NM_005055.4) | Caucasian | 1 in 176 | 1 in 17501 | 99% |
| General population | 1 in 252 | 1 in 25101 | 99% | ||
| Sephardic Jewish - Iraqi, Iranian | < 1 in 500 | 1 in 49901 | 99% | ||
Congenital Nephrotic Syndrome, PLCE1-Related |
PLCE1 (NM_016341.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Congenital Neutropenia, G6Pc3-Related |
G6PC3 (NM_138387.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Congenital Neutropenia, HAX1-Related |
HAX1 (NM_006118.3) | General population | < 1 in 500 | 1 in 9981 | 95% |
Congenital Neutropenia, HAX1-Related |
HAX1 (NM_006118.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
Congenital Neutropenia, HAX1-Related |
HAX1 (NM_ 006118.3) | General population | < 1 in 500 | 1 in 9981 | 95% |
Congenital Neutropenia, VPS45-Related |
VPS45 (NM_ 001279353.1) | General population | < 1 in 500 | 1 in 9981 | >95% |
Congenital Neutropenia, VPS45-Related |
VPS45 (NM_001279353.1) | General population | < 1 in 500 | 1 in 9981 | >95% |
Congenital Neutropenia, VPS45-Related |
VPS45 (NM_007259.4) | General population | < 1 in 500 | 1 in 49901 | 99% |
Congenital Secretory Chloride Diarrhea 1 |
SLC26A3 (NM_000111.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Congential Disorder of Glycosylation, Type IA |
PMM2 (NM_000303.2) | Ashkenazi Jewish | 1 in 61 | 1 in 1201 | >95% |
| Asian | 1 in 449 | 1 in 8961 | >95% | ||
| Caucasian | 1 in 42 | 1 in 821 | >95% | ||
| General population | 1 in 124 | 1 in 2461 | >95% | ||
Corneal Dystrophy and Perceptive Deafness |
SLC4A11 (NM_032034.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
Corneal Dystrophy and Perceptive Deafness |
SLC4A11 (NM_ 032034.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Corneal Dystrophy and Perceptive Deafness Syndrome |
SLC4A11 (NM_032034.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Corticosterone Methyloxidase Deficiency |
CYP11B2 (NM_000498.3) | General population | < 1 in 500 | 1 in 1783 | 72% |
| Sephardic Jewish - Iranian | 1 in 30 | 1 in 581 | >95% | ||
Corticosterone Methyloxidase Deficiency |
CYP11B2 (NM_ 000498.3) | Sephardic Jewish - Iranian | 1 in 30 | 1 in 581 | >95% |
| General population | < 1 in 500 | 1 in 1783 | 72% | ||
Corticosterone Methyloxidase Deficiency |
CYP11B2 (NM_000498.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Sephardic Jewish - Iranian | 1 in 30 | 1 in 2901 | 99% | ||
Costeff Syndrome (3-Methylglutaconic Aciduria, Type 3) |
OPA3 (NM_ 025136.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Sephardic Jewish - Iraqi | 1 in 13 | 1 in 1201 | 99% | ||
Costeff Syndrome (3-Methylglutaconic Aciduria, Type 3) |
OPA3 (NM_ 025136.3) | Sephardic Jewish - Iraqi | 1 in 13 | 1 in 241 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Cowchock Syndrome |
AIFM1 (NM_004208.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Creatine Transporter Defect (Cerebral Creatine Deficiency Syndrome 1, X-Linked) |
SLC6A8 (NM_ 005629.3) | General population | 1 in 20600 | 1 in 2060000 | 99% |
Creatine Transporter Defect (Cerebral Creatine Deficiency Syndrome 1, X-Linked) |
SLC6A8 (NM_ 005629.3) | General population | < 1 in 500 | 1 in 8318 | 94% |
Creatine Transporter Defect, SLC6A8-Related, X-Linked |
SLC6A8 (NM_005629.3) | General population | < 1 in 410000 | 1 in 683000 | 94% |
Cystic Fibrosis |
CFTR (NM_000492.3) | African American | 1 in 61 | 1 in 1201 | >95% |
| Ashkenazi Jewish | 1 in 24 | 1 in 461 | >95% | ||
| Asian | 1 in 94 | 1 in 1861 | >95% | ||
| Caucasian | 1 in 25 | 1 in 481 | >95% | ||
| General population | 1 in 45 | 1 in 881 | >95% | ||
| Hispanic | 1 in 58 | 1 in 1141 | >95% | ||
Cystic Fibrosis |
CFTR (NM_ 000492.3) | African American | 1 in 61 | 1 in 1201 | >95% |
| Ashkenazi Jewish | 1 in 24 | 1 in 461 | >95% | ||
| Asian | 1 in 94 | 1 in 1861 | >95% | ||
| Caucasian | 1 in 25 | 1 in 481 | >95% | ||
| Hispanic | 1 in 58 | 1 in 1141 | >95% | ||
| General population | 1 in 45 | 1 in 881 | >95% | ||
Cystic Fibrosis |
CFTR (NM_000492.3) | African American | 1 in 61 | 1 in 6001 | 99% |
| Ashkenazi Jewish | 1 in 24 | 1 in 2301 | 99% | ||
| Caucasian | 1 in 25 | 1 in 2401 | 99% | ||
| East Asian | 1 in 94 | 1 in 9301 | 99% | ||
| General population | 1 in 45 | 1 in 4401 | 99% | ||
| Hispanic | 1 in 58 | 1 in 5701 | 99% | ||
Cystinosis |
CTNS (NM_004937.2) | African American | < 1 in 500 | 1 in 49901 | 99% |
| Asian | < 1 in 500 | 1 in 49901 | 99% | ||
| Caucasian | 1 in 220 | 1 in 21901 | 99% | ||
| French Canadian - Saguenay Lac-St. Jean | 1 in 39 | 1 in 3801 | 99% | ||
| General population | 1 in 158 | 1 in 15701 | 99% | ||
| Hispanic | < 1 in 500 | 1 in 49901 | 99% | ||
| Sephardic Jewish - Moroccan | 1 in 100 | 1 in 9901 | 99% | ||
Cystinosis |
CTNS (NM_ 004937.2) | African American | < 1 in 500 | 1 in 9981 | >95% |
| Asian | < 1 in 500 | 1 in 9981 | >95% | ||
| Caucasian | 1 in 220 | 1 in 2191 | 90% | ||
| French Canadian - Saguenay Lac-St. Jean | 1 in 39 | 1 in 381 | 90% | ||
| Hispanic | < 1 in 500 | 1 in 1997 | 75% | ||
| Sephardic Jewish - Moroccan | 1 in 100 | 1 in 1981 | >95% | ||
| General population | 1 in 224 | 1 in 4461 | >95% | ||
Cystinosis |
CTNS (NM_004937.2) | African American | < 1 in 500 | 1 in 9981 | >95% |
| Asian | < 1 in 500 | 1 in 9981 | >95% | ||
| Caucasian | 1 in 220 | 1 in 2191 | 90% | ||
| French Canadian - Saguenay Lac-St. Jean | 1 in 39 | 1 in 381 | 90% | ||
| General population | 1 in 224 | 1 in 4461 | >95% | ||
| Hispanic | < 1 in 500 | 1 in 1997 | 75% | ||
| Sephardic Jewish - Moroccan | 1 in 100 | 1 in 1981 | >95% | ||
Cytochrome C Oxidase Deficiency, PET100-Related |
PET100 (NM_001171155.1) | General population | 1 in 452 | 1 in 45101 | 99% |
Cytochrome P450 Oxidoreductase Deficiency |
POR (NM_000941.2) | General population | 1 in 370 | 1 in 36901 | 99% |
D-Bifunctional Protein Deficiency |
HSD17B4 (NM_000414.3) | General population | < 1 in 500 | 1 in 3839 | 87% |
D-Bifunctional Protein Deficiency |
HSD17B4 (NM_ 000414.3) | General population | < 1 in 500 | 1 in 3839 | 87% |
D-Bifunctional Protein Deficiency |
HSD17B4 (NM_000414.3) | General population | < 1 in 158 | 1 in 15701 | 99% |
Deafness, Autosomal Recessive 77 |
LOXHD1 (NM_144612.6) | Ashkenazi Jewish | 1 in 180 | 1 in 17901 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Deafness, Autosomal Recessive 77 |
LOXHD1 (NM_ 144612.6) | Ashkenazi Jewish | 1 in 180 | 1 in 3581 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Deafness, Autosomal Recessive 77 |
LOXHD1 (NM_144612.6) | Ashkenazi Jewish | 1 in 180 | 1 in 3581 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Dent Disease, Type 1 |
CLCN5 (NM_000084.4) | General population | <1 in 500 | 1 in 49901 | 99% |
Dent Disease, Type 2 / Lowe Syndrome |
OCRL (NM_000276.3) | General population | 1 in 375000 | 1 in 37499901 | 99% |
Developmental And Epileptic Encephalopathy 36 |
ALG13 (NM_001099922.2) | General population | <1 in 750000 | 1 in 74999901 | 99% |
Dihydrolipoamide Dehydrogenase Deficiency |
DLD (NM_000108.4) | Ashkenazi Jewish | 1 in 107 | 1 in 2121 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Dihydropteridine Reductase (Dhpr) Deficiency |
QDPR (NM_000320.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Dihydropyrimidine Dehydrogenase Deficiency |
DPYD (NM_000110.3) | East Asian | 1 in 50 | 1 in 4901 | 99% |
| General population | 1 in 20 | 1 in 1901 | 99% | ||
Donnai-Barrow Syndrome |
LRP2 (NM_004525.3) | General population | 1 in 213 | 1 in 21201 | 99% |
Dubin-Johnson Syndrome |
ABCC2 (NM_000392.4) | General population | 1 in 158 | 1 in 15701 | 99% |
| Sephardic Jewish - Iranian, Moroccan | 1 in 27 | 1 in 2601 | 99% | ||
Duchenne/Becker Muscular Dystrophy |
DMD (NM_ 004006.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Duchenne/Becker Muscular Dystrophy |
DMD (NM_004006.2) | General population | 1 in 4200 | 1 in 419901 | 99% |
Duchenne/Becker Muscular Dystrophy, X-Linked |
DMD (NM_004006.2) | General population | 1in 4200 | 1 in 84000 | >95% |
Dyskeratosis Congenita Spectrum Disorders |
TERT (NM_198253.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Dyskeratosis Congenita, DKC1-Related |
DKC1 (NM_001363.4) | General population | <1 in 750000 | 1 in 74999901 | 99% |
Dyskeratosis Congenita, RTEL1-Related |
RTEL1 (NM_032957.4; NM_001283009.1) | Ashkenazi Jewish | 1 in 165 | 1 in 3281 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Dyskeratosis Congenita, RTEL1-Related |
RTEL1 (NM_ 032957.4; NM_ 001283009.1) | Ashkenazi Jewish | 1 in 165 | 1 in 3281 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Dyskeratosis Congenita, RTEL1-Related |
RTEL1 (NM_032957.4) | Ashkenazi Jewish | 1 in 165 | 1 in 16401 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Dystrophic Epidermolysis Bullosa, COL7A1-Related |
COL7A1 (NM_000094.3) | General population | 1 in 370 | 1 in 36901 | 99% |
Dystrophic Epidermolysis Bullosa, COL7A1-Related |
COL7A1 (NM_000094.3) | General population | 1 in 370 | 1 in 7381 | >95% |
Dystrophic Epidermolysis Bullosa, COL7A1-Related |
COL7A1 (NM_ 000094.3) | General population | 1 in 370 | 1 in 7381 | >95% |
ERCC6-Related Disorders |
ERCC6 (NM_000124.3) | General population | <1 in 500 | 1 in 49901 | 99% |
ERCC8-Related Disorders |
ERCC8 (NM_000082.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Early Infantile Epileptic Encephalopathy, Cad-Related |
CAD (NM_004341.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
| Finnish | 1 in 212 | 1 in 21101 | 99% | ||
| Ashkenazi Jewish | 1 in 458 | 1 in 45701 | 99% | ||
Ehlers-Danlos Syndrome Type Vi |
PLOD1 (NM_000302.3) | General population | 1 in 158 | 1 in 15701 | 99% |
Ehlers-Danlos Syndrome, Classic-Like, TNXB-Related |
TNXB (NM_019105.8) | General population | 1 in 28 | 1 in 541 | 95% |
Ehlers-Danlos Syndrome, Type VIIC |
ADAMTS2 (NM_014244.4) | Ashkenazi Jewish | 1 in 248 | 1 in 24701 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Ehlers-Danlos Syndrome, Type VIIC |
ADAMTS2 (NM_ 014244.4) | Ashkenazi Jewish | 1 in 187 | 1 in 3721 | >95% |
| General population | <1 in 500 | 1 in 7130 | 93% | ||
Ehlers-Danlos Syndrome, Type VIIC |
ADAMTS2 (NM_014244.4) | Ashkenazi Jewish | 1 in 187 | 1 in 3721 | >95% |
| General population | <1 in 500 | 1 in 7130 | 93% | ||
Ellis-van Creveld Syndrome, EVC-Related |
EVC (NM_153717.2) | General population | 1 in 345 | 1 in 34401 | 99% |
| Lancaster County Amish | 1 in 12 | 1 in 1101 | 99% | ||
Ellis-van Creveld Syndrome, EVC-Related |
EVC (NM_ 153717.2) | Amish - Pennsylvania | 1 in 12 | 1 in 221 | >95% |
| General population | 1 in 345 | 1 in 3441 | 90% | ||
Ellis-van Creveld Syndrome, EVC2-Related |
EVC2 (NM_147127.4) | General population | 1 in 122 | 1 in 12101 | 99% |
Ellis-van Creveld syndome |
EVC (NM_153717.2) | General population | 1 in 345 | 1 in 3441 | 90% |
| Lancaster County Amish | 1 in 12 | 1 in 221 | >95% | ||
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
EMD (NM_ 000117.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
EMD (NM_000117.2) | General population | 1 in 250000 | 1 in 25000000 | 99% |
Emery-Dreifuss Muscular Dystrophy 6, X-Linked |
FHL1 (NM_001449.4) | General population | <1 in 750000 | 1 in 74999901 | 99% |
Emery-Dreifuss Muscular Dystrophy, X-Linked |
EMD (NM_000117.2) | General population | 1 in 375000 | 1 in 1000000 | >95% |
Enhanced S-Cone Syndrome |
NR2E3 (NM_014249.3) | Ashkenazi Jewish | 1 in 100 | 1 in 9901 | >99% |
| General population | 1 in 204 | 1 in 4061 | >95% | ||
Enhanced S-Cone Syndrome |
NR2E3 (NM_014249.3) | Ashkenazi Jewish | 1 in 100 | 1 in 9901 | 99% |
| General population | 1 in 204 | 1 in 20301 | 99% | ||
Enhanced S-Cone Syndrome |
NR2E3 (NM_ 014249.3) | Ashkenazi Jewish | Unknown | Unknown | >95% |
| General population | 1 in 204 | 1 in 4061 | >95% | ||
Epimerase Deficiency (Galactosemia Type Iii) |
GALE (NM_000403.3) | General population | 1 in 132 | 1 in 13101 | 99% |
| African American | 1 in 41 | 1 in 4001 | 99% | ||
Epiphyseal Dysplasia, Multiple, 7 / Desbuquois Dysplasia 1 |
CANT1 (NM_138793.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Ethylmalonic Encephalopathy |
ETHE1 (NM_ 014297.3) | General population | < 1 in 500 | 1 in 8318 | 94% |
Ethylmalonic Encephalopathy |
ETHE1 (NM_014297.3) | General population | < 1 in 500 | 1 in 8318 | 94% |
Ethylmalonic Encephalopathy |
ETHE1 (NM_014297.4) | General population | < 1 in 500 | 1 in 49901 | 99% |
F2-Related Conditions |
F2 (NM_000506.3) | General population | 1 in 33 | 1 in 3201 | 99% |
F5‐Related Conditions |
F5 (NM_000130.4) | General population | 1 in 12 | 1 in 1101 | 99% |
Fabry Disease |
GLA (NM_000169.2) | General population | 1 in 1500 | 1 in 149901 | 99% |
Fabry Disease |
GLA (NM_ 000169.2) | General population | 1 in 1500 | 1 in 149901 | 99% |
Fabry Disease, X-Linked |
GLA (NM_000169.2) | General population | 1 in 42000 | 1 in 840000 | >95% |
Factor IX Deficiency |
F9 (NM_000133.3) | General population | 1 in 10000 | 1 in 999901 | 99% |
Factor IX Deficiency |
F9 (NM_ 000133.3) | General population | 1 in 10000 | 1 in 999901 | 99% |
Factor XI Deficiency |
F11 (NM_ 000128.3) | Ashkenazi Jewish | 1 in 11 | 1 in 201 | >95% |
| Asian | 1 in 163 | 1 in 3241 | >95% | ||
| Caucasian | 1 in 101 | 1 in 2001 | >95% | ||
| General population | 1 in 92 | 1 in 1821 | >95% | ||
Factor XI Deficiency |
F11 (NM_000128.3) | Ashkenazi Jewish | 1 in 11 | 1 in 201 | >95% |
| Asian | 1 in 163 | 1 in 3241 | >95% | ||
| Caucasian | 1 in 101 | 1 in 2001 | >95% | ||
| General population | 1 in 92 | 1 in 1821 | >95% | ||
Factor XI Deficiency |
F11 (NM_000128.3) | Ashkenazi Jewish | 1 in 11 | 1 in 1001 | 99% |
| Asian | 1 in 163 | 1 in 16201 | 99% | ||
| Caucasian | 1 in 101 | 1 in 10001 | 99% | ||
| General population | 1 in 92 | 1 in 9101 | 99% | ||
Familial Dysautonomia |
ELP1 aka IKBKAP (NM_ 003640.3) | Ashkenazi Jewish | 1 in 34 | 1 in 3301 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Familial Dysautonomia |
IKBKAP (ELP1) (NM_ 003640.3) | Ashkenazi Jewish | 1 in 31 | 1 in 601 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Familial Dysautonomia |
IKBKAP (NM_003640.3) | Ashkenazi Jewish | 1 in 31 | 1 in 601 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Familial Hemophagocytic Lymphohistiocytosis, PRF1-Related |
PRF1 (NM_001083116.2) | General population | <1 in 500 | 1 in 49901 | 99% |
Familial Hemophagocytic Lymphohistiocytosis, STX11-Related |
STX11 (NM_003764.3) | General population | 1 in 354 | 1 in 35301 | 99% |
Familial Hemophagocytic Lymphohistiocytosis, STXBP2-Related |
STXBP2 (NM_006949.3) | General population | 1 in 296 | 1 in 29501 | 99% |
Familial Hemophagocytic Lymphohistiocytosis, Unc13D-Related |
UNC13D (NM_199242.2) | General population | <1 in 500 | 1 in 49901 | 99% |
| Swedish | 1 in 187 | 1 in 18601 | 99% | ||
Familial Hypercholesterolemia, LDLR-Related |
LDLR (NM_ 000527.4) | Ashkenazi Jewish | 1 in 69 | 1 in 454 | 85% |
| Caucasian | 1 in 200 | 1 in 1328 | 85% | ||
| Finnish | 1 in 143 | 1 in 2841 | >95% | ||
| French Canadian | 1 in 267 | 1 in 360 | 26% | ||
| South African Afrikaner | 1 in 70 | 1 in 1381 | >95% | ||
| General population | < 1 in 500 | 1 in 3565 | 86% | ||
Familial Hypercholesterolemia, LDLR-Related |
LDLR (NM_000527.4) | Ashkenazi Jewish | 1 in 69 | 1 in 6801 | 99% |
| Caucasian | 1 in 200 | 1 in 19901 | 99% | ||
| Finnish | 1 in 143 | 1 in 14201 | 99% | ||
| French Canadian | 1 in 267 | 1 in 26601 | 99% | ||
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
| South African Afrikaner | 1 in 70 | 1 in 6901 | 99% | ||
Familial Hypercholesterolemia, LDLR-Related |
LDLR (NM_ 000527.4) | Ashkenazi Jewish | 1 in 69 | 1 in 454 | 85% |
| Caucasian | 1 in 200 | 1 in 1328 | 85% | ||
| Finnish | 1 in 143 | 1 in 2841 | >95% | ||
| French Canadian | 1 in 267 | 1 in 360 | 26% | ||
| South African Afrikaner | 1 in 70 | 1 in 1381 | >95% | ||
| General population | < 1 in 500 | 1 in 3565 | 86% | ||
Familial Hypercholesterolemia, LDLRAP1-Related |
LDLRAP1 (NM_ 015627.2) | Sardinian | 1 in 143 | 1 in 2841 | >95% |
| General population | < 1 in 500 | 1 in 9981 | 95% | ||
Familial Hypercholesterolemia, LDLRAP1-Related |
LDLRAP1 (NM_015627.2) | General population | < 1 in 500 | 1 in 9981 | 95% |
| Sardinian | 1 in 143 | 1 in 2841 | >95% | ||
Familial Hypercholesterolemia, LDLRAP1-Related |
LDLRAP1 (NM_015627.2) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Sardinian | 1 in 143 | 1 in 14201 | 99% | ||
Familial Hyperinsulinism, ABCC8-Related |
ABCC8 (NM_000352.4) | Ashkenazi Jewish | 1 in 52 | 1 in 5101 | 99% |
| Finnish | 1 in 29 | 1 in 2801 | 99% | ||
| General population | 1 in 112 | 1 in 11101 | 99% | ||
Familial Hyperinsulinism, ABCC8-Related |
ABCC8 (NM_ 000352.4) | Ashkenazi Jewish | 1 in 52 | 1 in 1021 | >95% |
| Finnish | 1 in 100 | 1 in 1981 | >95% | ||
| General population | 1 in 167 | 1 in 3321 | >95% | ||
Familial Hyperinsulinism, ABCC8-Related |
ABCC8 (NM_000352.4) | Ashkenazi Jewish | 1 in 52 | 1 in 1021 | >95% |
| Finnish | 1 in 100 | 1 in 1981 | >95% | ||
| General population | 1 in 167 | 1 in 3321 | >95% | ||
Familial Hyperinsulinism, KCNJ11-Related |
KCNJ11 (NM_000525.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Familial Mediterranean Fever |
MEFV (NM_000243.2) | Armenian | 1 in 5 | 1 in 81 | >95% |
| Ashkenazi Jewish | 1 in 13 | 1 in 241 | >95% | ||
| General population | 1 in 115 | 1 in 2281 | >95% | ||
| Sephardic Jewish | 1 in 14 | 1 in 261 | >95% | ||
| Turkish | 1 in 5 | 1 in 81 | >95% | ||
Familial Mediterranean Fever |
MEFV (NM_000243.2) | Armenian | 1 in 5 | 1 in 401 | 99% |
| Ashkenazi Jewish | 1 in 13 | 1 in 1201 | 99% | ||
| General population | 1 in 115 | 1 in 11401 | 99% | ||
| Sephardic Jewish | 1 in 14 | 1 in 1301 | 99% | ||
| Turkish | 1 in 5 | 1 in 401 | 99% | ||
Familial Mediterranean Fever |
MEFV (NM_ 000243.2) | Armenian | 1 in 5 | 1 in 81 | >95% |
| Ashkenazi Jewish | 1 in 13 | 1 in 241 | >95% | ||
| Sephardic Jewish | 1 in 14 | 1 in 261 | >95% | ||
| Turkish | 1 in 5 | 1 in 81 | >95% | ||
| General population | 1 in 115 | 1 in 2281 | >95% | ||
Familial Nephrogenic Diabetes Insipidus, AQP2-Related |
AQP2 (NM_ 000486.5) | General population | < 1 in 500 | 1 in 9981 | >95% |
Familial Nephrogenic Diabetes Insipidus, AQP2-Related |
AQP2 (NM_000486.5) | General population | < 1 in 500 | 1 in 49901 | 99% |
Familial Neuropophyseal Diabetes Insipidus, Autosomal Recessive |
AQP2 (NM_000486.5) | General population | < 1 in 500 | 1 in 9981 | >95% |
Fanconi Anemia, Group A |
FANCA (NM_000135.3) | General population | 1 in 345 | 1 in 34401 | 99% |
| Sephardic Jewish - Moroccan, Tunisian | 1 in 133 | 1 in 13201 | 99% | ||
| Spanish Roma | 1 in 64 | 1 in 6301 | 99% | ||
Fanconi Anemia, Group A |
FANCA (NM_ 000135.2) | Sephardic Jewish - Moroccan, Tunisian | 1 in 133 | 1 in 2641 | >95% |
| Roma - Spanish | 1 in 64 | 1 in 1261 | >95% | ||
| General population | 1 in 345 | 1 in 1434 | 76% | ||
Fanconi Anemia, Group B |
FANCB (NM_001018113.2) | General population | 1 in 750000 | 1 in 74999901 | 99% |
Fanconi Anemia, Group C |
FANCC (NM_ 000136.2) | Ashkenazi Jewish | 1 in 89 | 1 in 1761 | >95% |
| General population | 1 in 417 | 1 in 8321 | >95% | ||
Fanconi Anemia, Group C |
FANCC (NM_000136.2) | Ashkenazi Jewish | 1 in 98 | 1 in 9701 | 99% |
| General population | 1 in 1053 | 1 in 105201 | 99% | ||
Fanconi Anemia, Group D2 |
FANCD2 (NM_033084.4) | General population | <1 in 500 | 1 in 49901 | 99% |
Fanconi Anemia, Group E |
FANCE (NM_021922.2) | General population | <1 in 500 | 1 in 49901 | 99% |
Fanconi Anemia, Group F |
FANCF (NM_022725.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Fanconi Anemia, Group G |
FANCG (NM_004629.1) | African American | 1 in 100 | 1 in 9901 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Fanconi Anemia, Group G |
FANCG (NM_ 004629.1) | African American | 1 in 100 | 1 in 1981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Fanconi Anemia, Group I |
FANCI (NM_001113378.1) | General population | <1 in 500 | 1 in 49901 | 99% |
Fanconi Anemia, Group J |
BRIP1 (NM_032043.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Fanconi Anemia, Group L |
FANCL (NM_018062.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Fanconi Anemia, Type A |
FANCA (NM_000135.2) | General population | 1 in 345 | 1 in 1434 | 76% |
| Sephardic Jewish - Moroccan, Tunisian | 1 in 133 | 1 in 2641 | >95% | ||
| Spanish Roma | 1 in 64 | 1 in 1261 | >95% | ||
Fanconi Anemia, Type C |
FANCC (NM_000136.2) | Ashkenazi Jewish | 1 in 89 | 1 in 1761 | >95% |
| General population | 1 in 417 | 1 in 8321 | >95% | ||
Fanconi Anemia, Type G |
FANCG (NM_004629.1) | African American | 1 in 100 | 1 in 1981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Farber Lipogranulomatosis |
ASAH1 (NM_177924.4) | General population | <1 in 500 | 1 in 49901 | 99% |
Foveal Hypoplasia |
SLC38A8 (NM_001080442.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Fragile X Syndrome |
FMR1 (NM_001185076.1) | African American | 1 in 251 | 1 in 5001 | >95% |
| Ashkenazi Jewish | 1 in 58 | 1 in 1141 | >95% | ||
| Asian | < 1 in 500 | 1 in 9981 | >95% | ||
| Caucasian | 1 in 178 | 1 in 3541 | >95% | ||
| General population | 1 in 250 | 1 in 4981 | >95% | ||
| Hispanic | < 1 in 500 | 1 in 9981 | >95% | ||
Fragile X Syndrome |
FMR1 (NM_ 001185076.1) | African American | 1 in 251 | 1 in 5001 | >95% |
| Ashkenazi Jewish | 1 in 58 | 1 in 1141 | >95% | ||
| Asian | < 1 in 500 | 1 in 9981 | >95% | ||
| Caucasian | 1 in 178 | 1 in 3541 | >95% | ||
| Hispanic | < 1 in 500 | 1 in 9981 | >95% | ||
| General population | 1 in 250 | 1 in 4981 | >95% | ||
Fragile X Syndrome |
FMR1 (NM_002024.5) | African American | 1 in 251 | 1 in 25001 | 99% |
| Ashkenazi Jewish | 1 in 58 | 1 in 5701 | 99% | ||
| Asian | < 1 in 500 | 1 in 49901 | 99% | ||
| Caucasian | 1 in 178 | 1 in 17701 | 99% | ||
| General population | 1 in 250 | 1 in 24901 | 99% | ||
| Hispanic | < 1 in 500 | 1 in 49901 | 99% | ||
Fragile XE Syndrome |
AFF2 (NM_002025.4) | General population | 1 in 18750 | 1 in 1874901 | 99% |
Fraser Syndrome 3, GRIP1-Related |
GRIP1 (NM_021150.4) | General population | 1 in 83 | 1 in 8201 | 99% |
Fraser Syndrome, Fras1-Related |
FRAS1 (NM_025074.6) | General population | 1 in 316 | 1 in 31500 | 99% |
Fraser Syndrome, Frem2-Related |
FREM2 (NM_207361.5) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Friedreich Ataxia |
FXN (NM_000144.4) | Caucasian | 1 in 80 | 1 in 7901 | 99% |
| General population | 1 in 250 | 1 in 24901 | 99% | ||
Fructose-1,6-Bisphosphatase Deficiency |
FBP1 (NM_000507.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
| Caucasian | 1 in 296 | 1 in 29501 | 99% | ||
Fucosidosis, Fuca1-Related |
FUCA1 (NM_000147.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Fumarase Deficiency |
FH (NM_000143.3) | General population | < 1 in 500 | 1 in 9981 | 95% |
Fumarase Deficiency |
FH (NM_000143.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
Fumarase Deficiency |
FH (NM_ 000143.3) | General population | < 1 in 500 | 1 in 9981 | 95% |
GABA-Transaminase Deficiency |
ABAT (NM_020686.5) | General population | <1 in 500 | 1 in 49901 | 99% |
GM1 Gangliosidosis |
GLB1 (NM_000404.2) | Caucasian | 1 in 278 | 1 in 5541 | >95% |
| General population | 1 in 158 | 1 in 3141 | >95% | ||
| Roma | 1 in 50 | 1 in 981 | >95% | ||
| South Brazil | 1 in 58 | 1 in 1141 | >95% | ||
GRACILE Syndrome |
BCS1L (NM_ 001257342.1) | Caucasian | 1 in 407 | 1 in 8121 | >95% |
| Finnish | 1 in 108 | 1 in 2141 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
GRACILE Syndrome |
BCS1L (NM_ 001257342.1) | Caucasian | 1 in 407 | 1 in 8121 | >95% |
| Finnish | 1 in 108 | 1 in 2141 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
GRACILE Syndrome |
BCS1L (NM_004328.4) | Caucasian | 1 in 407 | 1 in 40601 | 99% |
| Finnish | 1 in 108 | 1 in 10701 | 99% | ||
| General population | 1 in 111 | 1 in 11001 | 99% | ||
Galactokinase Deficiency |
GALK1 (NM_000154.1) | Asian | <1 in 500 | 1 in 4991 | 90% |
| General population | 1 in 122 | 1 in 2421 | >95% | ||
| Roma | 1 in 47 | 1 in 921 | >95% | ||
Galactokinase Deficiency (Galactosemia, Type II) |
GALK1 (NM_ 000154.1) | Asian | 1 in 500 | 1 in 4991 | 90% |
| Roma | 1 in 47 | 1 in 921 | >95% | ||
| General population | 1 in 122 | 1 in 2421 | >95% | ||
Galactokinase Deficiency (Galactosemia, Type II) |
GALK1 (NM_000154.1) | Asian | < 1 in 500 | 1 in 49901 | 99% |
| General population | 1 in 122 | 1 in 12101 | 99% | ||
| Roma | 1 in 47 | 1 in 4601 | 99% | ||
Galactosemia |
GALT (NM_000155.3) | African American | 1 in 78 | 1 in 7701 | 99% |
| Ashkenazi Jewish | 1 in 172 | 1 in 17101 | 99% | ||
| Caucasian | 1 in 108 | 1 in 10701 | 99% | ||
| East Asian | < 1 in 500 | 1 in 49901 | 99% | ||
| General population | 1 in 110 | 1 in 10901 | 99% | ||
| Hispanic | 1 in 305 | 1 in 30401 | 99% | ||
| Irish Travellers | 1 in 11 | 1 in 1001 | 99% | ||
Galactosemia |
GALT (NM_000155.3) | African American | 1 in 87 | 1 in 1721 | >95% |
| Ashkenazi Jewish | 1 in 156 | 1 in 3101 | >95% | ||
| Caucasian | 1 in 152 | 1 in 3021 | >95% | ||
| General population | 1 in 112 | 1 in 2221 | >95% | ||
| Hispanic | 1 in 305 | 1 in 6081 | >95% | ||
| Irish Travellers | 1 in 11 | 1 in 201 | >95% | ||
Galactosemia |
GALT (NM_ 000155.3) | African American | 1 in 87 | 1 in 1721 | >95% |
| Ashkenazi Jewish | 1 in 156 | 1 in 3101 | >95% | ||
| Caucasian | 1 in 152 | 1 in 3021 | >95% | ||
| Hispanic | 1 in 305 | 1 in 6081 | >95% | ||
| Irish Travellers | 1 in 11 | 1 in 201 | >95% | ||
| General population | 1 in 112 | 1 in 2221 | >95% | ||
Galactosialidosis |
CTSA (NM_000308.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Gaucher Disease |
GBA (NM_001005741.2) | Ashkenazi Jewish | 1 in 15 | 1 in 281 | >95% |
| Caucasian | 1 in 164 | 1 in 495 | 67% | ||
| General population | 1 in 158 | 1 in 358 | 56% | ||
Gaucher Disease |
GBA (NM_001005741.2) | Ashkenazi Jewish | 1 in 18 | 1 in 341 | 95% |
| Caucasian | 1 in 164 | 1 in 3261 | 95% | ||
| General population | 1 in 153 | 1 in 3041 | 95% | ||
Gaucher Disease |
GBA (NM_000157.3) | Ashkenazi Jewish | 1 in 15 | 1 in 281 | >95% |
| Caucasian | 1 in 164 | 1 in 495 | 67% | ||
| General population | 1 in 158 | 1 in 358 | 56% | ||
Gch1-Related Conditions |
GCH1 (NM_000161.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Gdf5-Related Conditions |
GDF5 (NM_000557.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Geroderma Osteodysplastica |
GORAB (NM_152281.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Gitelman Syndrome |
SLC12A3 (NM_000339.2) | General population | 1 in 100 | 1 in 1981 | >95% |
Gitelman Syndrome |
SLC12A3 (NM_ 000339.2) | General population | 1 in 100 | 1 in 1981 | >95% |
Gitelman Syndrome |
SLC12A3 (NM_000339.2) | General population | 1 in 100 | 1 in 9901 | 99% |
Glanzmann Thrombasthenia |
ITGB3 (NM_000212.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Glucose-6-Phosphate Dehydrogenase Deficiency |
G6PD (NM_001042351.2) | General population | 1 in 30 | 1 in 2901 | 99% |
| African American | 1 in 5 | 1 in 401 | 99% | ||
Glutaric Acidemia, Type 1 |
GCDH (NM_000159.3) | African American | 1 in 36 | 1 in 3501 | 99% |
| Caucasian | 1 in 172 | 1 in 17101 | 99% | ||
| General population | 1 in 112 | 1 in 11101 | 99% | ||
| Lancaster County Amish | 1 in 9 | 1 in 1001 | 99% | ||
| Lumbee Native Americans | 1 in 16 | 1 in 1501 | 99% | ||
| Oji-Cree First Nations (N. Manitoba) | 1 in 8 | 1 in 701 | 99% | ||
Glutaric Acidemia, Type 1 |
GCDH (NM_ 000159.3) | African American | 1 in 36 | 1 in 701 | >95% |
| Caucasian | 1 in 172 | 1 in 3421 | >95% | ||
| Lumbee Native Americans | 1 in 16 | 1 in 301 | >95% | ||
| Oji-Cree First Nations - N. Manitoba | 1 in 8 | 1 in 141 | >95% | ||
| Amish - Pennsylvania | 1 in 11 | 1 in 201 | >95% | ||
| General population | 1 in 158 | 1 in 3141 | >95% | ||
Glutaric Acidemia, Type 2A |
ETFA (NM_ 000126.3) | General population | < 1 in 500 | 1 in 9981 | 95% |
Glutaric Acidemia, Type 2A |
ETFA (NM_000126.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
Glutaric Acidemia, Type 2B |
ETFB(NM_001985.2) | General population | 1 in 408 | 1 in 40701 | 99% |
Glutaric Acidemia, Type 2C |
ETFDH (NM_004453.3) | Asian | 1 in 87 | 1 in 8601 | 99% |
| General population | 1 in 250 | 1 in 24901 | 99% | ||
Glutaric Acidemia, Type 2C |
ETFDH (NM_ 004453.3) | Asian | 1 in 87 | 1 in 1434 | 94% |
| General population | 1 in 250 | 1 in 4981 | >95% | ||
Glutaric Acidemia, Type I |
GCDH (NM_000159.3) | African American | 1 in 36 | 1 in 701 | >95% |
| Caucasian | 1 in 172 | 1 in 3421 | >95% | ||
| General population | 1 in 158 | 1 in 3141 | >95% | ||
| Lancaster County Amish | 1 in 11 | 1 in 201 | >95% | ||
| Lumbee Native Americans | 1 in 16 | 1 in 301 | >95% | ||
| Oji-Cree First Nations (N. Manitoba) | 1 in 8 | 1 in 141 | >95% | ||
Glutaric Acidemia, Type IIA |
ETFA (NM_000126.3) | General population | < 1 in 500 | 1 in 9981 | 95% |
Glutaric Acidemia, Type IIC |
ETFDH (NM_004453.3) | Asian | 1 in 87 | 1 in 1434 | 94% |
| General population | 1 in 250 | 1 in 4981 | >95% | ||
Glutathione Synthetase Deficiency |
GSS (NM_000178.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Glycine Encephalopathy, AMT-Related |
AMT (NM_000481.3) | Caucasian | 1 in 271 | 1 in 4501 | 94% |
| General population | 1 in 319 | 1 in 6361 | >95% | ||
Glycine Encephalopathy, AMT-Related |
AMT (NM_ 000481.3) | Caucasian | 1 in 271 | 1 in 4501 | 94% |
| General population | 1 in 319 | 1 in 6361 | >95% | ||
Glycine Encephalopathy, AMT-Related |
AMT (NM_000481.3) | Caucasian | 1 in 271 | 1 in 27001 | 99% |
| General population | 1 in 262 | 1 in 26101 | 99% | ||
Glycine Encephalopathy, GLDC-Related |
GLDC (NM_000170.2) | Caucasian | 1 in 140 | 1 in 13901 | 99% |
| General population | 1 in 135 | 1 in 13401 | 99% | ||
Glycine Encephalopathy, GLDC-Related |
GLDC (NM_000170.2) | Caucasian | 1 in 140 | 1 in 410 | 66% |
| General population | 1 in 165 | 1 in 966 | 83% | ||
Glycine Encephalopathy, GLDC-Related |
GLDC (NM_ 000170.2) | Caucasian | 1 in 140 | 1 in 410 | 66% |
| General population | 1 in 165 | 1 in 966 | 83% | ||
Glycogen Storage Disease Type Ixb |
PHKB (NM_000293.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Glycogen Storage Disease Type Ixc |
PHKG2 (NM_000294.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Glycogen Storage Disease, Type 1a |
G6PC (NM_ 000151.3) | Ashkenazi Jewish | 1 in 71 | 1 in 1401 | >95% |
| Asian | 1 in 192 | 1 in 3821 | >95% | ||
| Caucasian | 1 in 177 | 1 in 1957 | 91% | ||
| General population | 1 in 261 | 1 in 5201 | >95% | ||
Glycogen Storage Disease, Type 1a |
G6PC (NM_000151.3) | Ashkenazi Jewish | 1 in 71 | 1 in 7001 | 99% |
| Asian | 1 in 192 | 1 in 19101 | 99% | ||
| Caucasian | 1 in 177 | 1 in 17601 | 99% | ||
| General population | 1 in 177 | 1 in 17601 | 99% | ||
Glycogen Storage Disease, Type 1a |
G6PC (NM_000151.3) | Ashkenazi Jewish | 1 in 71 | 1 in 1401 | >95% |
| Asian | 1 in 192 | 1 in 3821 | >95% | ||
| Caucasian | 1 in 177 | 1 in 1957 | 91% | ||
| General population | 1 in 261 | 1 in 5201 | >95% | ||
Glycogen Storage Disease, Type 1b |
SLC37A4 (NM_ 001164277.1) | Caucasian | < 1 in 500 | 1 in 9981 | >95% |
| General population | 1 in 354 | 1 in 7061 | >95% | ||
Glycogen Storage Disease, Type 1b |
SLC37A4 (NM_001164277.1) | Caucasian | < 1 in 500 | 1 in 49901 | 99% |
| General population | 1 in 354 | 1 in 35301 | 99% | ||
Glycogen Storage Disease, Type 2 (Pompe Disease) |
GAA (NM_000152.4) | African American | 1 in 70 | 1 in 6901 | 99% |
| Ashkenazi Jewish | 1 in 58 | 1 in 5701 | 99% | ||
| Asian | 1 in 112 | 1 in 11101 | 99% | ||
| Caucasian | 1 in 100 | 1 in 9901 | 99% | ||
| General population | 1 in 132 | 1 in 13101 | 99% | ||
Glycogen Storage Disease, Type 2 (Pompe Disease) |
GAA (NM_ 000152.3) | African American | 1 in 70 | 1 in 1381 | >95% |
| Ashkenazi Jewish | 1 in 58 | 1 in 1141 | >95% | ||
| Asian | 1 in 112 | 1 in 2221 | >95% | ||
| Caucasian | 1 in 100 | 1 in 901 | 89% | ||
| General population | 1 in 132 | 1 in 2621 | >95% | ||
Glycogen Storage Disease, Type 3 |
AGL (NM_ 000028.2) | Faroese | 1 in 28 | 1 in 541 | >95% |
| Sephardic Jewish - Moroccan | 1 in 34 | 1 in 661 | >95% | ||
| General population | 1 in 158 | 1 in 3141 | >95% | ||
Glycogen Storage Disease, Type 3 |
AGL (NM_000642.2) | Faroese | 1 in 28 | 1 in 2701 | 99% |
| General population | 1 in 159 | 1 in 15801 | 99% | ||
| Sephardic Jewish - Moroccan | 1 in 37 | 1 in 3601 | 99% | ||
Glycogen Storage Disease, Type 4 |
GBE1 (NM_000158.3) | Ashkenazi Jewish | 1 in 68 | 1 in 6701 | 99% |
| Caucasian | 1 in 144 | 1 in 14301 | 99% | ||
| General population | 1 in 387 | 1 in 38601 | 99% | ||
Glycogen Storage Disease, Type 4 |
GBE1 (NM_ 000158.3) | Ashkenazi Jewish | 1 in 68 | 1 in 1341 | >95% |
| Caucasian | 1 in 144 | 1 in 2880 | 95% | ||
| General population | 1 in 387 | 1 in 7721 | 95% | ||
Glycogen Storage Disease, Type 5 (McArdle Disease) |
PYGM (NM_ 005609.2) | General population | 1 in 172 | 1 in 3440 | >95% |
| Caucasian | 1 in 191 | 1 in 3168 | 94% | ||
| Sephardic Jewish - Kurdish | 1 in 84 | 1 in 1661 | >95% | ||
Glycogen Storage Disease, Type 5 (McArdle Disease) |
PYGM (NM_005609.3) | Caucasian | 1 in 191 | 1 in 19001 | 99% |
| General population | 1 in 191 | 1 in 19001 | 99% | ||
| Sephardic Jewish - Kurdish | 1 in 84 | 1 in 8301 | 99% | ||
Glycogen Storage Disease, Type 7 |
PFKM (NM_000289.5) | Ashkenazi Jewish | 1 in 250 | 1 in 24901 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Glycogen Storage Disease, Type 7 |
PFKM (NM_ 000289.5) | Ashkenazi Jewish | 1 in 250 | 1 in 4981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Glycogen Storage Disease, Type II |
GAA (NM_000152.3) | African American | 1 in 70 | 1 in 1381 | >95% |
| Ashkenazi Jewish | 1 in 58 | 1 in 1141 | >95% | ||
| Asian | 1 in 112 | 1 in 2221 | >95% | ||
| Caucasian | 1 in 100 | 1 in 901 | 89% | ||
| General population | 1 in 132 | 1 in 2621 | >95% | ||
Glycogen Storage Disease, Type III |
AGL (NM_000028.2) | Faroese | 1 in 28 | 1 in 541 | >95% |
| General population | 1 in 158 | 1 in 3141 | >95% | ||
| Sephardic Jewish - Moroccan | 1 in 34 | 1 in 661 | >95% | ||
Glycogen Storage Disease, Type IV |
GBE1 (NM_000158.3) | Ashkenazi Jewish | 1 in 68 | 1 in 1341 | >95% |
| Caucasian | 1 in 144 | 1 in 478 | 70% | ||
| General population | 1 in 387 | 1 in 7721 | 95% | ||
Glycogen Storage Disease, Type Ib |
SLC37A4 (NM_001164277.1) | Caucasian | < 1 in 500 | 1 in 9981 | >95% |
| General population | 1 in 354 | 1 in 7061 | >95% | ||
Glycogen Storage Disease, Type V |
PYGM (NM_005609.2) | Caucasian | 1 in 191 | 1 in 3168 | 94% |
| General population | 1 in 191 | 1 in 3168 | 94% | ||
| Sephardic Jewish - Kurdish | 1 in 84 | 1 in 1661 | >95% | ||
Glycogen Storage Disease, Type VII |
PFKM (NM_000289.5) | Ashkenazi Jewish | 1 in 250 | 1 in 4981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Guanidinoacetate Methyltransferase Deficiency |
GAMT (NM_000156.5) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Portuguese | 1 in 125 | 1 in 12401 | 99% | ||
Guanidinoacetate Methyltransferase Deficiency |
GAMT (NM_000156.5) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Portuguese | 1 in 125 | 1 in 2481 | >95% | ||
Guanidinoacetate Methyltransferase Deficiency |
GAMT (NM_ 000156.5) | Portuguese | 1 in 125 | 1 in 2481 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Harlequin Ichthyosis |
ABCA12 (NM_173076.2) | General population | <1 in 500 | 1 in 49901 | 99% |
Heme Oxygenase 1 Deficiency |
HMOX1 (NM_002133.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Hemochromatosis, Type 2A |
HFE2 (HJV) (NM_ 213653.3) | Caucasian | < 1 in 500 | 1 in 9981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Hemochromatosis, Type 2A |
HJV aka HFE2 (NM_ 213653.3) | Caucasian | < 1 in 500 | 1 in 49901 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Hemochromatosis, Type 3, TFR2-Related |
TFR2 (NM_003227.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
Hemochromatosis, Type 3, TFR2-Related |
TFR2 (NM_ 003227.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Hemophilia A |
F8 (NM_000132.3) | General population | 1 in 2000 | 1 in 39981 | 95% |
Hemophilia B, X-Linked |
F9 (NM_000133.3) | General population | 1 in 23000 | 1 in 120000 | 95% |
Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related |
MPV17 (NM_002437.4) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Navajo | 1 in 20 | 1 in 381 | >95% | ||
Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related |
MPV17 (NM_ 002437.4) | Navajo Native American | 1 in 20 | 1 in 381 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related |
MPV17 (NM_002437.4) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Navajo | 1 in 20 | 1 in 1901 | 99% | ||
Hereditary Fructose Intolerance |
ALDOB (NM_000035.3) | African American | 1 in 406 | 1 in 40501 | 99% |
| Caucasian | 1 in 80 | 1 in 7901 | 99% | ||
| General population | 1 in 55 | 1 in 5401 | 99% | ||
| Hispanic | 1 in 55 | 1 in 5481 | 99% | ||
Hereditary Fructose Intolerance |
ALDOB (NM_ 000035.3) | African American | 1 in 406 | 1 in 8101 | >95% |
| Caucasian | 1 in 80 | 1 in 1581 | >95% | ||
| Hispanic | 1 in 275 | 1 in 5481 | >95% | ||
| General population | 1 in 121 | 1 in 2401 | >95% | ||
Hereditary Fructose Intolerance |
ALDOB (NM_000035.3) | African American | 1 in 406 | 1 in 8101 | >95% |
| Caucasian | 1 in 80 | 1 in 1581 | >95% | ||
| General population | 1 in 121 | 1 in 2401 | >95% | ||
| Hispanic | 1 in 275 | 1 in 5481 | >95% | ||
Hereditary Hemochromatosis Type 1 |
HFE (NM_000410.3) | General population | 1 in 10 | 1 in 100 | 90% |
Hereditary Hemochromatosis Type 2B |
HAMP (NM_021175.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Hereditary Hemochromatosis, HFE2-Related |
HFE2 (NM_213653.3) | Caucasian | < 1 in 500 | 1 in 9981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Hereditary Hemochromatosis, TFR2-Related |
TFR2 (NM_003227.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Hereditary Spastic Paraparesis, Type 49 |
TECPR2 (NM_014844.4) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Bukharian | 1 in 27 | 1 in 521 | >95% | ||
Hereditary Spastic Paraparesis, Type 49 |
TECPR2 (NM_014844.4) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Sephardic Jewish - Bukharian | 1 in 27 | 1 in 2601 | 99% | ||
Hereditary Spastic Paraparesis, Type 49 |
TECPR2 (NM_014844.4) | Sephardic Jewish - Bukharian | 1 in 27 | 1 in 521 | >95% |
| General population | < 1 in 500 | 1 in 9900 | >95% | ||
Hereditary Spastic Paraplegia, Cyp7B1-Related |
CYP7B1 (NM_004820.3) | General population | 1 in 338 | 1 in 33701 | 99% |
Hermansky-Pudlak Syndrome, AP3B1-Related |
AP3B1 (NM_003664.4) | General population | 1 in 158 | 1 in 15701 | 99% |
Hermansky-Pudlak Syndrome, Bloc1S3-Related |
BLOC1S3 (NM_212550.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Hermansky-Pudlak Syndrome, Bloc1S6-Related |
BLOC1S6 (NM_012388.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Hermansky-Pudlak Syndrome, HPS1-Related |
HPS1 (NM_000195.4) | Puerto Rican | 1 in 59 | 1 in 1161 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Hermansky-Pudlak Syndrome, HPS1-Related |
HPS1 (NM_000195.4) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Puerto Rican | 1 in 59 | 1 in 5801 | 99% | ||
Hermansky-Pudlak Syndrome, HPS1-Related |
HPS1 (NM_000195.4) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Puerto Rican | 1 in 59 | 1 in 1161 | >95% | ||
Hermansky-Pudlak Syndrome, HPS3-Related |
HPS3 (NM_032383.4) | Ashkenazi Jewish | 1 in 235 | 1 in 4681 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Hermansky-Pudlak Syndrome, HPS3-Related |
HPS3 (NM_032383.4) | Ashkenazi Jewish | 1 in 235 | 1 in 23401 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Hermansky-Pudlak Syndrome, HPS3-Related |
HPS3 (NM_032383.4) | Ashkenazi Jewish | 1 in 235 | 1 in 4681 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Hermansky-Pudlak Syndrome, HPS4-Related |
HPS4 (NM_022081.5) | General population | <1 in 500 | 1 in 49901 | 99% |
Hermansky-Pudlak Syndrome, Hps5-Related |
HPS5 (NM_181507.1) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Hermansky-Pudlak Syndrome, Hps6-Related |
HPS6 (NM_024747.5) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Heterotaxy Syndrome, ZIC3-Related |
ZIC3 (NM_003413.3) | General population | 1 in 750000 | 1 in 74999901 | 99% |
Holocarboxylase Synthetase Deficiency |
HLCS (NM_000411.7) | Asian | 1 in 158 | 1 in 15701 | 99% |
| Caucasian | < 1 in 500 | 1 in 49901 | 99% | ||
| Faroese | 1 in 20 | 1 in 1901 | 99% | ||
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Holocarboxylase Synthetase Deficiency |
HLCS (NM_000411.6) | Asian | 1 in 158 | 1 in 2618 | 94% |
| Caucasian | <1 in 500 | 1 in 9981 | >95% | ||
| Faroese | 1 in 20 | 1 in 381 | >95% | ||
| General population | <1 in 500 | 1 in 9981 | >95% | ||
Holocarboxylase Synthetase Deficiency |
HLCS (NM_ 000411.6) | Asian | 1 in 158 | 1 in 2618 | 94% |
| Caucasian | 1 in 500 | 1 in 9981 | >95% | ||
| Faroese | 1 in 20 | 1 in 381 | >95% | ||
| General population | 1 in 500 | 1 in 9981 | >95% | ||
Homocystinuria And Megaloblastic Anemia Type Cblg |
MTR (NM_000254.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Homocystinuria due to Deficiency of MTHFR |
MTHFR (NM_ 005957.4) | Sephardic Jewish - Bukharian | 1 in 39 | 1 in 761 | >95% |
| General population | < 1 in 500 | 1 in 9900 | >95% | ||
Homocystinuria due to Deficiency of MTHFR |
MTHFR (NM_005957.4) | General population | 1 in 158 | 1 in 15701 | 99% |
| Sephardic Jewish - Bukharian | 1 in 39 | 1 in 3801 | 99% | ||
Homocystinuria due to Deficiency of MTHFR |
MTHFR (NM_ 005957.4) | Sephardic Jewish - Bukharian | 1 in 39 | 1 in 761 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Homocystinuria, CBS-Related |
CBS (NM_000071.2) | Caucasian | 1 in 52 | 1 in 5101 | 99% |
| General population | 1 in 224 | 1 in 22301 | 99% | ||
| Qatari | 1 in 21 | 1 in 2001 | 99% | ||
Homocystinuria, CBS-Related |
CBS (NM_ 000071.2) | Caucasian | 1 in 52 | 1 in 1021 | >95% |
| Qatari | 1 in 21 | 1 in 401 | >95% | ||
| General population | 1 in 293 | 1 in 5841 | >95% | ||
Homocystinuria, CBS-Related |
CBS (NM_000071.2) | Caucasian | 1 in 52 | 1 in 1021 | >95% |
| General population | 1 in 293 | 1 in 5841 | >95% | ||
| Qatari | 1 in 21 | 1 in 401 | >95% | ||
Homocystinuria, Type cblE |
MTRR (NM_002454.2) | Caucasian | < 1 in 500 | 1 in 9981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Homocystinuria, Type cblE |
MTRR (NM_002454.2) | Caucasian | < 1 in 500 | 1 in 49901 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Homocystinuria, Type cblE |
MTRR (NM_ 002454.2) | Caucasian | < 1 in 500 | 1 in 9981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Hsd10 Disease |
HSD17B10 (NM_004493.2) | General population | <1 in 750000 | 1 in 74999901 | 99% |
Hydrolethalus Syndrome |
HYLS1 (NM_ 001134793.1) | Finnish | 1 in 50 | 1 in 981 | >95% |
| General population | 1 in 455 | 1 in 9081 | >95% | ||
Hydrolethalus Syndrome |
HYLS1 (NM_001134793.1) | Finnish | 1 in 50 | 1 in 981 | >95% |
| General population | 1 in 455 | 1 in 9081 | >95% | ||
Hydrolethalus Syndrome |
HYLS1 (NM_145014.2) | Finnish | 1 in 50 | 1 in 4901 | 99% |
| General population | 1 in 455 | 1 in 45401 | 99% | ||
Hyper IgM Syndrome, X-Linked |
CD40LG (NM_000074.2) | General population | 1 in 500000 | 1 in 50000000 | 99% |
Hyper-Igm Immunodeficiency |
CD40 (NM_001250.5) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH Syndrome) |
SLC25A15 (NM_014252.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Metis from Saskatchewan | 1 in 19 | 1 in 1801 | 99% | ||
Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH Syndrome) |
SLC25A15 (NM_ 014252.3) | Metis Nation - Saskatchewan | 1 in 19 | 1 in 361 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Hyperphosphatemic Familial Tumoral Calcinosis, GALNT3-Related |
GALNT3 (NM_004482.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Hypohidrotic Ectodermal Dysplasia, X-Linked |
EDA (NM_ 001399.4) | General population | < 1 in 500 | 1 in 9981 | 95% |
Hypohidrotic Ectodermal Dysplasia, X-Linked |
EDA (NM_001399.4) | General population | 1 in 3800 | 1 in 379901 | 99% |
Hypohidrotic Ectodermal Dysplasia, X-Linked |
EDA (NM_001399.4) | General population | 1 in 3800 | 1 in 76000 | 95% |
Hypomyelinating Leukodystrophy 12 |
VPS11 (NM_021729.5) | General population | ≤1 in 500 | 1 in 49901 | 99% |
| Ashkenazi Jewish | 1 in 160 | 1 in 15901 | 99% | ||
Hypophosphatasia |
ALPL (NM_000478.4) | Asian | 1 in 192 | 1 in 3821 | >95% |
| General population | 1 in 345 | 1 in 6881 | >95% | ||
| Mennonite | 1 in 25 | 1 in 481 | >95% | ||
Hypophosphatasia, ALPL-Related |
ALPL (NM_ 000478.4) | Asian | 1 in 192 | 1 in 3821 | >95% |
| Mennonite | 1 in 25 | 1 in 481 | >95% | ||
| General population | 1 in 345 | 1 in 6881 | >95% | ||
Hypophosphatasia, ALPL-Related |
ALPL (NM_000478.5) | Asian | 1 in 203 | 1 in 20201 | 99% |
| General population | 1 in 158 | 1 in 15701 | 99% | ||
| Mennonite | 1 in 25 | 1 in 2401 | 99% | ||
Imerslund-Gräsbeck Syndrome 2 |
AMN (NM_030943.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome |
FOXP3 (NM_014009.3) | General population | 1 in 750000 | 1 in 74999901 | 99% |
Immunodeficiency-Centromeric Instability-Facial Anomalies (Icf) Syndrome, Dnmt3B-Related |
DNMT3B (NM_006892.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Immunodeficiency-Centromeric Instability-Facial Anomalies (Icf) Syndrome, Zbtb24-Related |
ZBTB24 (NM_014797.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Inclusion Body Myopathy 2 |
GNE (NM_001128227.2) | Ashkenazi Jewish | < 1 in 500 | 1 in 49901 | 99% |
| Asian | 1 in 58 | 1 in 5701 | 99% | ||
| Caucasian | < 1 in 500 | 1 in 49901 | 99% | ||
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
| Sephardic Jewish - Iranian, Syrian | 1 in 12 | 1 in 1101 | 99% | ||
Inclusion Body Myopathy 2 |
GNE (NM_005476.5) | Ashkenazi Jewish | < 1 in 500 | 1 in 9981 | >95% |
| Asian | 1 in 58 | 1 in 1141 | >95% | ||
| Caucasian | < 1 in 500 | 1 in 9981 | >95% | ||
| General population | 1 in 179 | 1 in 3561 | >95% | ||
| Sephardic Jewish - Iranian, Syrian | 1 in 10 | 1 in 181 | >95% | ||
Inclusion Body Myopathy 2 |
GNE (NM_ 005476.5) | Ashkenazi Jewish | < 1 in 500 | 1 in 9981 | >95% |
| Asian | 1 in 58 | 1 in 1141 | >95% | ||
| Caucasian | < 1 in 500 | 1 in 9981 | >95% | ||
| Sephardic Jewish - Iranian, Syrian | 1 in 10 | 1 in 181 | >95% | ||
| General population | 1 in 179 | 1 in 3561 | >95% | ||
Infantile Cerebral and Cerebellar Atrophy |
MED17 (NM_ 004268.4) | Sephardic Jewish - Bukharian, Kurdish | 1 in 20 | 1 in 381 | >95% |
| General population | < 1 in 500 | 1 in 9900 | >95% | ||
Infantile Cerebral and Cerebellar Atrophy |
MED17 (NM_004268.4) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Sephardic Jewish - Bukharian, Kurdish | 1 in 20 | 1 in 1901 | 99% | ||
Infantile Cerebral and Cerebellar Atrophy |
MED17 (NM_004268.4) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Bukharian, Kurdish | 1 in 20 | 1 in 381 | >95% | ||
Infantile Nephronophthisis |
INVS (NM_014425.4) | General population | 1 in 373 | 1 in 37201 | 99% |
Infantile Neuroaxonal Dystrophy |
PLA2G6 (NM_003560.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Infantile Spinal Muscular Atrophy, X-Linked |
UBA1 (NM_003334.3) | General population | 1 in 750000 | 1 in 74999901 | 99% |
Isolated Ectopia Lentis |
ADAMTSL4 (NM_019032.5) | General population | ≤1 in 500 | 1 in 49901 | 99% |
| Bukharian Jewish | 1 in 48 | 1 in 4701 | 99% | ||
| Norwegian | 1 in 63 | 1 in 6201 | 99% | ||
Isolated Lissencephaly Sequence / Subcortical Band Heterotopia |
DCX (NM_178153.2) | General population | 1 in 750000 | 1 in 74999901 | 99% |
Isolated Sulfite Oxidase Deficiency |
SUOX (NM_000456.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Isolated Thyroid-Stimulating Hormone Deficiency |
TSHB (NM_000549.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Isovaleric Acidemia |
IVD (NM_ 002225.3) | Asian | 1 in 75 | 1 in 1481 | >95% |
| Caucasian | 1 in 144 | 1 in 2861 | >95% | ||
| General population | 1 in 158 | 1 in 3141 | >95% | ||
Isovaleric Acidemia |
IVD (NM_002225.3) | Asian | 1 in 75 | 1 in 1481 | >95% |
| Caucasian | 1 in 144 | 1 in 2861 | >95% | ||
| General population | 1 in 158 | 1 in 3141 | >95% | ||
Isovaleric Acidemia |
IVD (NM_002225.3) | Asian | 1 in 75 | 1 in 7401 | 99% |
| Caucasian | 1 in 144 | 1 in 14301 | 99% | ||
| General population | 1 in 250 | 1 in 24901 | 99% | ||
Johanson-Blizzard Syndrome |
UBR1 (NM_174916.2) | General population | 1 in 250 | 1 in 24901 | 99% |
Joubert Syndrome 2 |
TMEM216 (NM_001173990.2) | Ashkenazi Jewish | 1 in 110 | 1 in 2181 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Joubert Syndrome 2 / Meckel Syndrome 2 |
TMEM216 (NM_001173990.2) | Ashkenazi Jewish | 1 in 110 | 1 in 10901 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Joubert Syndrome 2 / Meckel Syndrome 2 |
TMEM216 (NM_ 001173990.2) | Ashkenazi Jewish | 1 in 110 | 1 in 2181 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Joubert Syndrome And Related Disorders (Jsrd), Tmem67-Related |
TMEM67 (NM_153704.5) | General population | 1 in 216 | 1 in 21501 | 99% |
Joubert Syndrome, AHI1-Related |
AHI1 (NM_017651.4) | General population | 1 in 176 | 1 in 17501 | 99% |
Joubert Syndrome, ARL13B-Related |
ARL13B (NM_182896.2) | General population | <1 in 500 | 1 in 49901 | 99% |
Joubert Syndrome, B9D1-Related |
B9D1 (NM_015681.4) | General population | <1 in 500 | 1 in 49901 | 99% |
Joubert Syndrome, B9D2-Related |
B9D2 (NM_030578.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Joubert Syndrome, C2CD3-Related / Orofaciodigital Syndrome 14 |
C2CD3 (NM_015531.5) | General population | <1 in 500 | 1 in 49901 | 99% |
Joubert Syndrome, CC2D2A-Related / COACH Syndrome |
CC2D2A (NM_001080522.2) | General population | <1 in 500 | 1 in 49901 | 99% |
Joubert Syndrome, CEP104-Related |
CEP104 (NM_014704.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Joubert Syndrome, CEP120-Related / Short-Rib Thoracic Dysplasia 13 with or without Polydactyly |
CEP120 (NM_153223.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Joubert Syndrome, CEP41-Related |
CEP41 (NM_018718.2) | General population | <1 in 500 | 1 in 49901 | 99% |
Joubert Syndrome, CPLANE1-Related / Orofaciodigital Syndrome 6 |
CPLANE1 (NM_023073.3) | General population | 1 in 423 | 1 in 42201 | 99% |
Joubert Syndrome, CSPP1-Related |
CSPP1 (NM_024790.6) | General population | <1 in 500 | 1 in 49901 | 99% |
Joubert Syndrome, INPP5E-Related |
INPP5E (NM_019892.5) | General population | 1 in 264 | 1 in 26301 | 99% |
Junctional Epidermolysis Bullosa, Col17A1-Related |
COL17A1 (NM_000494.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Junctional Epidermolysis Bullosa, Itga6-Related |
ITGA6 (NM_000210.3) | General population | 1 in 159 | 1 in 15801 | 99% |
Junctional Epidermolysis Bullosa, Itgb4-Related |
ITGB4 (NM_001005731.2) | General population | <1 in 500 | 1 in 49901 | 99% |
Junctional Epidermolysis Bullosa, LAMA3-Related |
LAMA3 (NM_000227.4) | General population | < 1 in 500 | 1 in 49901 | 99% |
Junctional Epidermolysis Bullosa, LAMB3-Related |
LAMB3 (NM_000228.2) | General population | 1 in 407 | 1 in 40601 | 99% |
Junctional Epidermolysis Bullosa, LAMC2-Related |
LAMC2 (NM_005562.2) | General population | 1 in 500 | 1 in 49901 | 99% |
Juvenile Retinoschisis, X-Linked |
RS1 (NM_000330.3) | General population | 1 in 2500 | 1 in 50000 | >95% |
Juvenile Retinoschisis, X-Linked |
RS1 (NM_ 000330.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Juvenile Retinoschisis, X-Linked |
RS1 (NM_000330.3) | General population | 1 in 2500 | 1 in 249901 | 99% |
Krabbe Disease |
GALC (NM_000153.3) | Asian | < 1 in 500 | 1 in 49901 | 99% |
| Druze Northern Israel | 1 in 6 | 1 in 501 | 99% | ||
| General population | 1 in 150 | 1 in 14901 | 99% | ||
| Muslim Arab (Jerusalem) | 1 in 6 | 1 in 501 | 99% | ||
Krabbe Disease |
GALC (NM_000153.3) | Druze Northern Israel | 1 in 6 | 1 in 101 | >95% |
| General population | 1 in 158 | 1 in 3141 | >95% | ||
| Muslim Arab (Jerusalem) | 1 in 6 | 1 in 101 | >95% | ||
Krabbe Disease |
GALC (NM_ 000153.3) | Druze Northern Israel | 1 in 6 | 1 in 101 | >95% |
| Muslim Arab - Jerusalem | 1 in 6 | 1 in 101 | >95% | ||
| General population | 1 in 158 | 1 in 3141 | >95% | ||
L1 Syndrome |
L1CAM (NM_000425.4) | General population | 1 in 22500 | 1 in 2249901 | 99% |
Lamellar Ichthyosis, Type 1 |
TGM1 (NM_ 000359.2) | Caucasian | 1 in 253 | 1 in 5041 | >95% |
| Norwegian | 1 in 151 | 1 in 3001 | >95% | ||
| General population | 1 in 301 | 1 in 6001 | >95% | ||
Lamellar Ichthyosis, Type 1 |
TGM1 (NM_000359.2) | Caucasian | 1 in 253 | 1 in 25201 | 99% |
| General population | 1 in 301 | 1 in 30001 | 99% | ||
| Norwegian | 1 in 151 | 1 in 15001 | 99% | ||
Lamellar Ichthyosis, Type I |
TGM1 (NM_000359.2) | Caucasian | 1 in 253 | 1 in 5041 | >95% |
| General population | 1 in 301 | 1 in 6001 | >95% | ||
| Norwegian | 1 in 151 | 1 in 3001 | >95% | ||
Laron Syndrome |
GHR (NM_000163.4) | General population | 1 in 167 | 1 in 16601 | 99% |
Leber Congenital Amaurosis 2 |
RPE65 (NM_000329.2) | General population | 1 in 228 | 1 in 22701 | 99% |
| Sephardic Jewish - North African | 1 in 90 | 1 in 8901 | 99% | ||
Leber Congenital Amaurosis 2 |
RPE65 (NM_ 000329.2) | Sephardic Jewish - North African | 1 in 90 | 1 in 1781 | >95% |
| General population | 1 in 228 | 1 in 4541 | >95% | ||
Leber Congenital Amaurosis Type Aipl1 |
AIPL1 (NM_014336.4) | General population | 1 in 387 | 1 in 38601 | 99% |
Leber Congenital Amaurosis Type Gucy2D |
GUCY2D (NM_000180.3) | General population | 1 in 200 | 1 in 19901 | 99% |
Leber Congenital Amaurosis Type Lrat |
LRAT (NM_004744.4) | General population | <1 in 500 | 1 in 49901 | 99% |
Leber Congenital Amaurosis Type Tulp1 |
TULP1 (NM_003322.4) | General population | 1 in 186 | 1 in 18501 | 99% |
Leber Congenital Amaurosis, IQCB1-Related / Senior-Loken Syndrome 5 |
IQCB1 (NM_001023570.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Leber Congenital Amaurosis, LCA5-Related |
LCA5 (NM_181714.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Leber Congenital Amaurosis, RPE65-Related |
RPE65 (NM_000329.2) | General population | 1 in 228 | 1 in 4541 | >95% |
| Sephardic Jewish - North African | 1 in 90 | 1 in 1781 | >95% | ||
Leber Congenital Amaurosis, Type CEP290 |
CEP290 (NM_ 025114.3) | General population | 1 in 185 | 1 in 3681 | >95% |
Leber Congenital Amaurosis, Type CEP290 |
CEP290 (NM_025114.3) | General population | 1 in 185 | 1 in 18401 | 99% |
Leber Congenital Amaurosis, Type CEP290-Related |
CEP290 (NM_025114.3) | General population | 1 in 185 | 1 in 3681 | >95% |
Leber Congenital Amaurosis, Type LCA5 |
LCA5 (NM_181714.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
Leber Congenital Amaurosis, Type LCA5 |
LCA5 (NM_ 181714.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Leber Congenital Amaurosis, Type RDH12 |
RDH12 (NM_ 152443.2) | General population | 1 in 456 | 1 in 9101 | >95% |
Leber Congenital Amaurosis, Type RDH12 |
RDH12 (NM_152443.2) | General population | 1 in 456 | 1 in 45501 | 99% |
Leber Congential Amaurosis, RDH12-Related |
RDH12 (NM_152443.2) | General population | 1 in 456 | 1 in 9101 | >95% |
Leigh Syndrome, French-Canadian |
LRPPRC (NM_133259.3) | French Canadian - Saguenay Lac-St. Jean | 1 in 23 | 1 in 441 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Leigh Syndrome, French-Canadian Type |
LRPPRC (NM_133259.3) | French Canadian - Saguenay Lac-St. Jean | 1 in 23 | 1 in 2201 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Leigh Syndrome, French-Canadian Type |
LRPPRC (NM_ 133259.3) | French Canadian - Saguenay Lac-St. Jean | 1 in 23 | 1 in 441 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Lesch-Nyhan Syndrome |
HPRT1 (NM_000194.2) | General population | 1 in 285000 | 1 in 28499901 | 99% |
Lethal Congenital Contracture Syndrome 1 |
GLE1 (NM_001003722.1) | Finnish | 1 in 100 | 1 in 9901 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Lethal Congenital Contracture Syndrome 1 |
GLE1 (NM_001003722.1) | Finnish | 1 in 100 | 1 in 1981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Lethal Congenital Contracture Syndrome 1 |
GLE1 (NM_ 001003722.1) | Finnish | 1 in 100 | 1 in 1981 | >95% |
| General population | < 1 in 500 | 1 in 9900 | >95% | ||
Leukoencephalopathy With Vanishing White Matter, Eif2B1-Related |
EIF2B1 (NM_001414.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Leukoencephalopathy With Vanishing White Matter, Eif2B2-Related |
EIF2B2 (NM_014239.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Leukoencephalopathy With Vanishing White Matter, Eif2B3-Related |
EIF2B3 (NM_020365.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Leukoencephalopathy With Vanishing White Matter, Eif2B4-Related |
EIF2B4 (NM_015636.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Leukoencephalopathy with Vanishing White Matter |
EIF2B5 (NM_ 003907.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Leukoencephalopathy with Vanishing White Matter |
EIF2B5 (NM_003907.2) | General population | < 1 in 500 | 1 in 49901 | 99% |
Leukoencephalopathy with Vanishing White Matter |
EIF2B5 (NM_003907.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Lig4 Syndrome |
LIG4 (NM_002312.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Limb-Girdle Muscular Dystrophy Type 8 |
TRIM32 (NM_012210.3) | General population | <1 in 500 | 1 in 49901 | 99% |
| Hutterite | 1 in 7 | 1 in 601 | 99% | ||
Limb-Girdle Muscular Dystrophy, Type 2A |
CAPN3 (NM_000070.2) | Amish | 1 in 50 | 1 in 4901 | >99% |
| Asian | 1 in 238 | 1 in 4741 | >95% | ||
| Caucasian | 1 in 130 | 1 in 1291 | 90% | ||
| General population | 1 in 158 | 1 in 3141 | >95% | ||
| Hispanic | 1 in 260 | 1 in 5181 | >95% | ||
Limb-Girdle Muscular Dystrophy, Type 2A |
CAPN3 (NM_ 000070.2) | Amish | unknown | unknown | >95% |
| Asian | 1 in 238 | 1 in 4741 | >95% | ||
| Caucasian | 1 in 130 | 1 in 1291 | 90% | ||
| Hispanic | 1 in 260 | 1 in 5181 | >95% | ||
| General population | 1 in 158 | 1 in 3141 | >95% | ||
Limb-Girdle Muscular Dystrophy, Type 2A |
CAPN3 (NM_000070.2) | Amish | 1 in 50 | 1 in 4901 | 99% |
| Caucasian | 1 in 103 | 1 in 10201 | 99% | ||
| East Asian | 1 in 232 | 1 in 23101 | 99% | ||
| General population | <1 in 500 | 1 in 49901 | 99% | ||
| Hispanic | 1 in 260 | 1 in 25901 | 99% | ||
Limb-Girdle Muscular Dystrophy, Type 2B |
DYSF (NM_003494.3) | Caucasian | 1 in 158 | 1 in 15701 | 99% |
| General population | 1 in 311 | 1 in 31001 | 99% | ||
Limb-Girdle Muscular Dystrophy, Type 2B |
DYSF (NM_003494.3) | General population | 1 in 311 | 1 in 6201 | >95% |
| Sephardic Jewish - Libyan, Moroccan, Tunisian, Bulgarian | 1 in 14 | 1 in 261 | >95% | ||
Limb-Girdle Muscular Dystrophy, Type 2B |
DYSF (NM_ 003494.3) | Sephardic Jewish - Libyan, Kavkazi, Yemenite | 1 in 14 | 1 in 261 | >95% |
| General population | 1 in 311 | 1 in 6201 | >95% | ||
Limb-Girdle Muscular Dystrophy, Type 2C |
SGCG (NM_ 000231.2) | Moroccan | 1 in 250 | 1 in 4981 | >95% |
| Roma | 1 in 96 | 1 in 1901 | >95% | ||
| General population | 1 in 354 | 1 in 2716 | 87% | ||
Limb-Girdle Muscular Dystrophy, Type 2C |
SGCG (NM_000231.2) | General population | 1 in 354 | 1 in 35301 | 99% |
| Moroccan | 1 in 250 | 1 in 24901 | 99% | ||
| Roma | 1 in 96 | 1 in 9501 | 99% | ||
Limb-Girdle Muscular Dystrophy, Type 2C |
SGCG (NM_000231.2) | General population | 1 in 354 | 1 in 2716 | 87% |
| Moroccan | 1 in 250 | 1 in 4981 | >95% | ||
| Roma | 1 in 96 | 1 in 1901 | >95% | ||
Limb-Girdle Muscular Dystrophy, Type 2D |
SGCA (NM_000023.2) | Caucasian | 1 in 290 | 1 in 5781 | >95% |
| Finnish | 1 in 150 | 1 in 2981 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Limb-Girdle Muscular Dystrophy, Type 2D |
SGCA (NM_ 000023.2) | Caucasian | 1 in 290 | 1 in 5781 | >95% |
| Finnish | 1 in 150 | 1 in 2981 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Limb-Girdle Muscular Dystrophy, Type 2D |
SGCA (NM_000023.3) | Caucasian | 1 in 290 | 1 in 28901 | 99% |
| Finnish | 1 in 150 | 1 in 14901 | 99% | ||
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Limb-Girdle Muscular Dystrophy, Type 2E |
SGCB (NM_000232.4) | Caucasian | 1 in 406 | 1 in 40501 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Limb-Girdle Muscular Dystrophy, Type 2E |
SGCB (NM_000232.4) | Caucasian | 1 in 406 | 1 in 1126 | 64% |
| General population | <1 in 500 | 1 in 7130 | 93% | ||
Limb-Girdle Muscular Dystrophy, Type 2E |
SGCB (NM_ 000232.4) | Caucasian | 1 in 406 | 1 in 1126 | 64% |
| General population | 1 in 500 | 1 in 7130 | 93% | ||
Limb-Girdle Muscular Dystrophy, Type 2F |
SGCD (NM_000337.5) | General population | <1 in 500 | 1 in 49901 | 99% |
Limb-Girdle Muscular Dystrophy, Type 2I |
FKRP (NM_ 024301.4) | Norwegian | 1 in 116 | 1 in 2301 | >95% |
| General population | 1 in 158 | 1 in 3141 | >95% | ||
Limb-Girdle Muscular Dystrophy, Type 2I |
FKRP (NM_024301.4) | General population | 1 in 158 | 1 in 15701 | 99% |
| Norwegian | 1 in 116 | 1 in 11501 | 99% | ||
Limb-Girdle Muscular Dystrophy, Type 2I |
FKRP (NM_024301.4) | General population | 1 in 158 | 1 in 3141 | >95% |
| Norwegian | 1 in 116 | 1 in 2301 | >95% | ||
Lipoamide Dehydrogenase Deficiency (Dihydrolipoamide Dehydrogenase Deficiency) |
DLD (NM_ 000108.4) | Ashkenazi Jewish | 1 in 107 | 1 in 2121 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Lipoamide Dehydrogenase Deficiency (Dihydrolipoamide Dehydrogenase Deficiency) |
DLD (NM_000108.4) | Ashkenazi Jewish | 1 in 94 | 1 in 9301 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Lipoid Adrenal Hyperplasia |
STAR (NM_000349.2) | East Asian | 1 in 177 | 1 in 17601 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Lipoid Adrenal Hyperplasia |
STAR (NM_ 000349.2) | East Asian | 1 in 177 | 1 in 3521 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Lipoid Congenital Adrenal Hyperplasia |
STAR (NM_000349.2) | East Asian | 1 in 177 | 1 in 3521 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Lipoprotein Lipase Deficiency |
LPL (NM_000237.2) | Asian | 1 in 189 | 1 in 571 | 67% |
| Caucasian | < 1 in 500 | 1 in 1560 | 68% | ||
| French Canadian - Other | 1 in 139 | 1 in 2761 | >95% | ||
| French Canadian - Saguenay Lac-St. Jean | 1 in 46 | 1 in 901 | >95% | ||
| General population | <1 in 500 | 1 in 9981 | >95% | ||
Lipoprotein Lipase Deficiency |
LPL (NM_000237.2) | Asian | 1 in 189 | 1 in 571 | 67% |
| Caucasian | < 1 in 500 | 1 in 1560 | 68% | ||
| French Canadian - Saguenay Lac-St. Jean | 1 in 46 | 1 in 901 | >95% | ||
| French Canadian - Other | 1 in 139 | 1 in 2761 | >95% | ||
| General population | 1 in 500 | 1 in 9981 | >95% | ||
Lipoprotein Lipase Deficiency |
LPL (NM_000237.2) | Asian | 1 in 189 | 1 in 18801 | 99% |
| Caucasian | < 1 in 500 | 1 in 49901 | 99% | ||
| French Canadian - Other | 1 in 139 | 1 in 13801 | 99% | ||
| French Canadian - Saguenay Lac-St. Jean | 1 in 46 | 1 in 4501 | 99% | ||
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency |
HADHA (NM_000182.4) | Caucasian | 1 in 254 | 1 in 25301 | 99% |
| Finnish | 1 in 240 | 1 in 23901 | 99% | ||
| General population | 1 in 138 | 1 in 13701 | 99% | ||
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency |
HADHA (NM_000182.4) | Caucasian | 1 in 254 | 1 in 5061 | >95% |
| General population | 1 in 351 | 1 in 7001 | >95% | ||
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency |
HADHA (NM_ 000182.4) | Caucasian | 1 in 254 | 1 in 5061 | >95% |
| General population | 1 in 351 | 1 in 7001 | >95% | ||
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome (Lics) |
NSMCE3 (NM_138704.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Lysinuric Protein Intolerance |
SLC7A7 (NM_ 001126106.2) | Finnish | 1 in 122 | 1 in 2421 | >95% |
| Japanese | 1 in 119 | 1 in 2361 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Lysinuric Protein Intolerance |
SLC7A7 (NM_001126106.2) | Finnish | 1 in 122 | 1 in 12101 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
| Japanese | 1 in 119 | 1 in 11801 | 99% | ||
Lysinuric Protein Intolerance |
SLC7A7 (NM_001126106.2) | Finnish | 1 in 122 | 1 in 2421 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
| Japanese | 1 in 119 | 1 in 2361 | >95% | ||
MEDNIK Syndrome |
AP1S1 (NM_001283.4) | General population | <1 in 500 | 1 in 49901 | 99% |
MKS1-Related Disorders |
MKS1 (NM_017777.3) | Caucasian | 1 in 260 | 1 in 5181 | >95% |
| Finnish | 1 in 47 | 1 in 921 | >95% | ||
| General population | 1 in 260 | 1 in 5181 | >95% | ||
Malonyl-CoA Decarboxylase Deficiency |
MLYCD (NM_012213.2) | General population | <1 in 500 | 1 in 49901 | 99% |
Maple Syrup Urine Disease, Type 1A |
BCKDHA (NM_000709.3) | Caucasian | 1 in 320 | 1 in 5318 | 94% |
| General population | 1 in 289 | 1 in 5761 | >95% | ||
| Mennonite | 1 in 10 | 1 in 181 | >95% | ||
| Portuguese Roma | 1 in 71 | 1 in 1401 | >95% | ||
Maple Syrup Urine Disease, Type 1A |
BCKDHA (NM_ 000709.3) | Caucasian | 1 in 320 | 1 in 5318 | 94% |
| Mennonite | 1 in 10 | 1 in 181 | >95% | ||
| Roma - Portuguese | 1 in 71 | 1 in 1401 | >95% | ||
| General population | 1 in 289 | 1 in 5761 | >95% | ||
Maple Syrup Urine Disease, Type 1A |
BCKDHA (NM_000709.3) | Caucasian | 1 in 320 | 1 in 31901 | 99% |
| General population | 1 in 321 | 1 in 32001 | 99% | ||
| Mennonite | 1 in 10 | 1 in 901 | 99% | ||
| Portuguese Roma | 1 in 71 | 1 in 7001 | 99% | ||
Maple Syrup Urine Disease, Type 1B |
BCKDHB (NM_183050.3) | Ashkenazi Jewish | 1 in 97 | 1 in 9601 | 99% |
| Asian | 1 in 163 | 1 in 16201 | 99% | ||
| Caucasian | 1 in 433 | 1 in 43201 | 99% | ||
| General population | 1 in 364 | 1 in 36301 | 99% | ||
Maple Syrup Urine Disease, Type 1B |
BCKDHB (NM_000056.3) | Ashkenazi Jewish | 1 in 97 | 1 in 1921 | >95% |
| Asian | 1 in 163 | 1 in 3241 | >95% | ||
| Caucasian | 1 in 433 | 1 in 8641 | >95% | ||
| General population | 1 in 327 | 1 in 6521 | >95% | ||
Maple Syrup Urine Disease, Type 1B |
BCKDHB (NM_ 000056.3) | Ashkenazi Jewish | 1 in 97 | 1 in 1921 | >95% |
| Asian | 1 in 163 | 1 in 3241 | >95% | ||
| Caucasian | 1 in 433 | 1 in 8641 | >95% | ||
| General population | 1 in 327 | 1 in 6521 | >95% | ||
Maple Syrup Urine Disease, Type 2 |
DBT (NM_001918.3) | General population | 1 in 321 | 1 in 32001 | 99% |
McKusick-Kaufman Syndrome |
MKKS (NM_018848.3) | General population | 1 in 219 | 1 in 21801 | 99% |
Meckel Syndrome 7 / Nephronophthisis 3 |
NPHP3 (NM_153240.4) | General population | <1 in 500 | 1 in 49901 | 99% |
Meckel-Gruber Syndrome, Type 1 |
MKS1 (NM_ 017777.3) | Caucasian | 1 in 260 | 1 in 5181 | >95% |
| Finnish | 1 in 47 | 1 in 921 | >95% | ||
| General population | 1 in 260 | 1 in 5181 | >95% | ||
Meckel-Gruber Syndrome, Type 1 |
MKS1 (NM_017777.3) | Caucasian | 1 in 260 | 1 in 25901 | 99% |
| Finnish | 1 in 47 | 1 in 4601 | 99% | ||
| General population | 1 in 260 | 1 in 25901 | 99% | ||
Mecp2-Related Conditions |
MECP2 (NM_004992.3) | General population | ≤1 in 500 | Reduced | 99% |
Mecr-Related Neurologic Disorder |
MECR (NM_016011.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Medium Chain Acyl-CoA Dehydrogenase Deficiency |
ACADM (NM_000016.5) | Asian | 1 in 178 | 1 in 17701 | 99% |
| Caucasian | 1 in 64 | 1 in 6301 | 99% | ||
| General population | 1 in 35 | 1 in 3401 | 99% | ||
Medium Chain Acyl-CoA Dehydrogenase Deficiency |
ACADM (NM_ 000016.5) | Asian | 1 in 178 | 1 in 1042 | 83% |
| Caucasian | 1 in 55 | 1 in 772 | 93% | ||
| General population | 1 in 69 | 1 in 1361 | >95% | ||
Medium Chain Acyl-CoA Dehydrogenase Deficiency |
ACADM (NM_000016.5) | Asian | 1 in 178 | 1 in 1042 | 83% |
| Caucasian | 1 in 55 | 1 in 772 | 93% | ||
| General population | 1 in 69 | 1 in 1361 | >95% | ||
Megalencephalic Leukoencephalopathy with Subcortical Cysts |
MLC1 (NM_015166.3) | General population | <1 in 500 | 1 in 9981 | >95% |
| Libyan Jewish | 1 in 40 | 1 in 781 | >95% | ||
Megalencephalic Leukoencephalopathy with Subcortical Cysts |
MLC1 (NM_015166.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Libyan Jewish | 1 in 40 | 1 in 3901 | 99% | ||
Megalencephalic Leukoencephalopathy with Subcortical Cysts |
MLC1 (NM_ 015166.3) | Sephardic Jewish - Libyan | 1 in 40 | 1 in 781 | >95% |
| General population | <1 in 500 | 1 in 9981 | >95% | ||
Menkes Syndrome |
ATP7A (NM_000052.6) | General population | < 1 in 500 | 1 in 3839 | 87% |
Menkes Syndrome |
ATP7A (NM_000052.6) | General population | 1 in 75000 | 1 in 7499901 | 99% |
Merosin-Deficient Muscular Dystrophy |
LAMA2 (NM_000426.3) | General population | 1 in 87 | 1 in 8601 | 99% |
Metabolic Encephalopathy and Arrhythmias, TANGO2-Related |
TANGO2 (NM_152906.6) | General population | <1 in 500 | 1 in 49901 | 99% |
Metachromatic Leukodystrophy, ARSA-Related |
ARSA (NM_000487.5) | Ashkenazi Jewish | < 1 in 500 | 1 in 49901 | 99% |
| General population | 1 in 100 | 1 in 9901 | 99% | ||
| Navajo | 1 in 25 | 1 in 2401 | 99% | ||
| Sephardic Jewish - Yemenite | 1 in 46 | 1 in 4501 | 99% | ||
Metachromatic Leukodystrophy, ARSA-Related |
ARSA (NM_000487.5) | Ashkenazi Jewish | <1 in 500 | 1 in 9981 | >95% |
| General population | 1 in 100 | 1 in 1981 | >95% | ||
| Navajo | 1 in 25 | 1 in 481 | >95% | ||
| Sephardic Jewish - Yemenite | 1 in 46 | 1 in 901 | >95% | ||
Metachromatic Leukodystrophy, ARSA-Related |
ARSA (NM_ 000487.5) | Ashkenazi Jewish | <1 in 500 | 1 in 9981 | >95% |
| Navajo Native American | 1 in 25 | 1 in 481 | >95% | ||
| Sephardic Jewish - Yemenite | 1 in 46 | 1 in 901 | >95% | ||
| General population | 1 in 100 | 1 in 1981 | >95% | ||
Metachromatic Leukodystrophy, PSAP-Related |
PSAP (NM_ 002778.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Metachromatic Leukodystrophy, PSAP-Related |
PSAP (NM_002778.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
Metachromatic Leukodystrophy, PSAP-Related |
PSAP (NM_002778.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Methylmalonic Acidemia And Homocystinuria Type Cblf |
LMBRD1 (NM_018368.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Methylmalonic Acidemia And Homocystinuria Type Cblx |
HCFC1 (NM_005334.2) | General population | <1 in 750000 | 1 in 74999901 | 99% |
Methylmalonic Acidemia, Mcee-Related |
MCEE (NM_032601.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Methylmalonic Acidura, MUT-Related |
MUT (NM_000255.3) | African American | 1 in 177 | 1 in 3521 | >95% |
| Asian | 1 in 53 | 1 in 1041 | >95% | ||
| Caucasian | 1 in 224 | 1 in 4461 | >95% | ||
| General population | 1 in 383 | 1 in 7641 | >95% | ||
| Hispanic | 1 in 383 | 1 in 7641 | >95% | ||
Methylmalonic Aciduria and Homocystinuria, Type cblC |
MMACHC (NM_015506.3) | Asian | 1 in 113 | 1 in 2241 | >95% |
| Caucasian | 1 in 138 | 1 in 2741 | >95% | ||
| General population | 1 in 138 | 1 in 2741 | >95% | ||
Methylmalonic Aciduria and Homocystinuria, Type cblC |
MMACHC (NM_015506.2) | Asian | 1 in 113 | 1 in 11201 | 99% |
| Caucasian | 1 in 138 | 1 in 13701 | 99% | ||
| General population | 1 in 138 | 1 in 13701 | 99% | ||
Methylmalonic Aciduria and Homocystinuria, Type cblD |
MMADHC (NM_015702.2) | Caucasian | < 1 in 500 | 1 in 49901 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Methylmalonic Aciduria and Homocystinuria, Type cblD |
MMADHC (NM_ 015702.2) | Caucasian | < 1 in 500 | 1 in 9981 | >95% |
| General population | < 1 in 500 | 1 in 9900 | >95% | ||
Methylmalonic Aciduria, MMAA-Related |
MMAA (NM_ 172250.2) | Caucasian | 1 in 316 | 1 in 6301 | >95% |
| General population | 1 in 316 | 1 in 6301 | >95% | ||
Methylmalonic Aciduria, MMAA-Related |
MMAA (NM_172250.2) | Caucasian | 1 in 316 | 1 in 6301 | >95% |
| General population | 1 in 316 | 1 in 6301 | >95% | ||
Methylmalonic Aciduria, MMAA-Related |
MMAA (NM_172250.2) | Caucasian | 1 in 316 | 1 in 31501 | 99% |
| General population | 1 in 316 | 1 in 31501 | 99% | ||
Methylmalonic Aciduria, MMAB-Related |
MMAB (NM_052845.3) | Caucasian | 1 in 456 | 1 in 45501 | 99% |
| General population | 1 in 456 | 1 in 45501 | 99% | ||
Methylmalonic Aciduria, MMAB-Related |
MMAB (NM_ 052845.3) | Caucasian | 1 in 456 | 1 in 9101 | >95% |
| General population | 1 in 456 | 1 in 9101 | >95% | ||
Methylmalonic Aciduria, MMAB-Related |
MMAB (NM_052845.3) | Caucasian | 1 in 456 | 1 in 9101 | >95% |
| General population | 1 in 456 | 1 in 9101 | >95% | ||
Methylmalonic Aciduria, Type cblC |
MMACHC (NM_015506.2) | Asian | 1 in 113 | 1 in 2241 | >95% |
| Caucasian | 1 in 138 | 1 in 2741 | >95% | ||
| General population | 1 in 138 | 1 in 2741 | >95% | ||
Methylmalonic Aciduria, Type cblD |
MMADHC (NM_015702.2) | Caucasian | < 1 in 500 | 1 in 9981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Methylmalonic Aciduria, Type mut(0) |
MMUT aka MUT (NM_000255.3) | African American | 1 in 177 | 1 in 17601 | 99% |
| Asian | 1 in 53 | 1 in 5201 | 99% | ||
| Caucasian | 1 in 224 | 1 in 22301 | 99% | ||
| General population | 1 in 383 | 1 in 38201 | 99% | ||
| Hispanic | 1 in 383 | 1 in 38201 | 99% | ||
Methylmalonic Aciduria, Type mut(0) |
MUT (NM_ 000255.3) | African American | 1 in 177 | 1 in 3521 | >95% |
| Asian | 1 in 53 | 1 in 1041 | >95% | ||
| Caucasian | 1 in 224 | 1 in 4461 | >95% | ||
| Hispanic | 1 in 383 | 1 in 7641 | >95% | ||
| General population | 1 in 383 | 1 in 7641 | >95% | ||
Mevalonic Kinase Deficiency |
MVK (NM_000431.3) | General population | 1 in 167 | 1 in 16601 | 99% |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
PCNT (NM_006031.5) | General population | ≤1 in 500 | 1 in 49901 | 99% |
| Druze Northern Israel | 1 in 30 | 1 in 2901 | 99% | ||
Microphthalmia/Anophthalmia |
VSX2 (NM_182894.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Iranian, Syrian | 1 in 145 | 1 in 2881 | >95% | ||
Microphthalmia/Anophthalmia, VSX2-Related |
VSX2 (NM_ 182894.2) | Sephardic Jewish - Iranian, Syrian | 1 in 145 | 1 in 2881 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Microphthalmia/Anophthalmia, VSX2-Related |
VSX2 (NM_182894.2) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Sephardic Jewish - Iranian, Syrian | 1 in 145 | 1 in 14401 | 99% | ||
Mitochondrial Complex 1 Deficiency, ACAD9-Related |
ACAD9 (NM_014049.4) | General population | < 1 in 500 | 1 in 49901 | 99% |
Mitochondrial Complex 1 Deficiency, ACAD9-Related |
ACAD9(NM014049.4) | General population | < 1 in 500 | 1 in 9981 | >95% |
Mitochondrial Complex 1 Deficiency, NDUFAF5-Related |
NDUFAF5 (NM_ 024120.4) | Ashkenazi Jewish | 1 in 290 | 1 in 5781 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Mitochondrial Complex 1 Deficiency, NDUFAF5-Related |
NDUFAF5 (NM_024120.4) | Ashkenazi Jewish | 1 in 290 | 1 in 5781 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Mitochondrial Complex 1 Deficiency, NDUFAF5-Related |
NDUFAF5 (NM_024120.4) | Ashkenazi Jewish | 1 in 290 | 1 in 28901 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Mitochondrial Complex 1 Deficiency, NDUFS6-Related |
NDUFS6 (NM_004553.4) | Caucasus Jewish | 1 in 24 | 1 in 2301 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Mitochondrial Complex 1 Deficiency, NDUFS6-Related |
NDUFS6 (NM_ 004553.4) | Caucasus Jewish | 1 in 24 | 1 in 461 | >95% |
| General population | < 1 in 500 | 1 in 7130 | 93% | ||
Mitochondrial Complex 1 Deficiency, NDUFS6-Related |
NDUFS6 (NM_004553.4) | Caucasus Jewish | 1 in 24 | 1 in 461 | >95% |
| General population | < 1 in 500 | 1 in 7130 | 93% | ||
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
NDUFAF2 (NM_174889.4) | General population | <1 in 500 | 1 in 49901 | 99% |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
NDUFAF6 (NM_152416.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
FOXRED1 (NM_017547.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
NDUFS7 (NM_024407.4) | General population | <1 in 500 | 1 in 49901 | 99% |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
NDUFV1 (NM_007103.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Mitochondrial Complex IV Deficiency, Nuclear Type 2, SCO2-Related |
SCO2 (NM_005138.2) | General population | 1 in 149 | 1 in 14801 | 99% |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
COX15 (NM_004376.6) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Mitochondrial Dna Depletion Syndrome 2 |
TK2 (NM_004614.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Mitochondrial Dna Depletion Syndrome 3 |
DGUOK (NM_080916.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Mitochondrial Myopathy and Sideroblastic Anemia |
PUS1 (NM_025215.5) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Iranian | < 1 in 500 | 1 in 49901 | >99% | ||
Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1) |
PUS1 (NM_025215.5) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Sephardic Jewish - Iranian | < 1 in 500 | 1 in 49901 | 99% | ||
Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1) |
PUS1 (NM_ 025215.5) | Sephardic Jewish - Iranian | Unknown | Unknown | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Mitochondrial Trifunctional Protein Deficiency, HADHB-Related |
HADHB (NM_000183.2) | General population | 1 in 146 | 1 in 14501 | 99% |
Mitochondrial complex I Deficiency, Nuclear Type 1 |
NDUFS4 (NM_002495.3) | General population | 1 in 423 | 1 in 42201 | 99% |
Molybdenum Cofactor Deficiency Type B |
MOCS2 (NM_176806.3; NM_004531.4) | General population | 1 in 236 | 1 in 23501 | 99% |
Molybdenum Cofactor Deficiency, Type A |
MOCS1 (NM_005943.5) | General population | <1 in 500 | 1 in 49901 | 99% |
Mucolipidosis II/IIIA |
GNPTAB (NM_ 024312.4) | Asian | 1 in 389 | 1 in 2426 | 84% |
| Caucasian | 1 in 225 | 1 in 4481 | 95% | ||
| General population | 1 in 408 | 1 in 8141 | >95% | ||
Mucolipidosis II/IIIA |
GNPTAB (NM_024312.4) | Asian | 1 in 389 | 1 in 38801 | 99% |
| Caucasian | 1 in 225 | 1 in 22401 | 99% | ||
| General population | 1 in 158 | 1 in 15701 | 99% | ||
Mucolipidosis III gamma |
GNPTG (NM_032520.4) | Caucasian | 1 In 273 | 1 in 27201 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Mucolipidosis III gamma |
GNPTG (NM_032520.4) | Caucasian | 1 In 273 | 1 in 4534 | 94% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Mucolipidosis III gamma |
GNPTG (NM_ 032520.4) | Caucasian | 1 In 273 | 1 in 4534 | 94% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Mucolipidosis, Type II/III Alpha/Beta |
GNPTAB (NM_024312.4) | Asian | 1 in 389 | 1 in 2426 | 84% |
| Caucasian | 1 in 225 | 1 in 4481 | 95% | ||
| General population | 1 in 408 | 1 in 8141 | >95% | ||
Mucolipidosis, Type IV |
MCOLN1 (NM_020533.2) | Ashkenazi Jewish | 1 in 89 | 1 in 1761 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Mucolipidosis, Type IV |
MCOLN1 (NM_020533.2) | Ashkenazi Jewish | 1 in 89 | 1 in 8801 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Mucolipidosis, Type IV |
MCOLN1 (NM_020533.3) | Ashkenazi Jewish | 1 in 89 | 1 in 1761 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Mucopolysaccharidosis, Type I (Hurler Syndrome) |
IDUA (NM_000203.5) | General population | 1 in 144 | 1 in 2861 | >95% |
Mucopolysaccharidosis, Type I (Hurler Syndrome) |
IDUA (NM_000203.4) | General population | 1 in 144 | 1 in 2861 | >95% |
Mucopolysaccharidosis, Type I (Hurler Syndrome) |
IDUA (NM_000203.4) | General population | 1 in 158 | 1 in 15701 | 99% |
Mucopolysaccharidosis, Type II (Hunter Syndrome) |
IDS (NM_000202.7) | General population | 1 in 60000 | 1 in 599991 | 90% |
Mucopolysaccharidosis, Type II (Hunter Syndrome) |
IDS (NM_ 000202.6) | General population | < 1 in 500 | 1 in 3565 | 86% |
Mucopolysaccharidosis, Type II (Hunter Syndrome), X-Linked |
IDS (NM_000202.6) | General population | 1 in 75000 | 1 in 540000 | 86% |
Mucopolysaccharidosis, Type IIIA (Sanfilippo A) |
SGSH (NM_000199.3) | Caucasian | 1 in 253 | 1 in 5041 | 95% |
| General population | 1 in 415 | 1 in 8281 | >95% | ||
Mucopolysaccharidosis, Type IIIA (Sanfilippo A) |
SGSH (NM_000199.4) | Caucasian | 1 in 253 | 1 in 25201 | 99% |
| General population | 1 in 415 | 1 in 41401 | 99% | ||
Mucopolysaccharidosis, Type IIIA (Sanfilippo A) |
SGSH (NM_ 000199.3) | Caucasian | 1 in 253 | 1 in 5041 | 95% |
| General population | 1 in 415 | 1 in 8281 | >95% | ||
Mucopolysaccharidosis, Type IIIB (Sanfilippo B) |
NAGLU (NM_ 000263.3) | Asian | 1 in 298 | 1 in 5941 | >95% |
| Caucasian | 1 in 346 | 1 in 1726 | 80% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Mucopolysaccharidosis, Type IIIB (Sanfilippo B) |
NAGLU (NM_000263.3) | Asian | 1 in 298 | 1 in 5941 | >95% |
| Caucasian | 1 in 346 | 1 in 1726 | 80% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Mucopolysaccharidosis, Type IIIB (Sanfilippo B) |
NAGLU (NM_000263.3) | Asian | 1 in 298 | 1 in 29701 | 99% |
| Caucasian | 1 in 346 | 1 in 34501 | 99% | ||
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Mucopolysaccharidosis, Type IIIC (Sanfilippo C) |
HGSNAT (NM_152419.2) | Asian | < 1 in 500 | 1 in 49901 | 99% |
| Caucasian | 1 in 259 | 1 in 48101 | 99% | ||
| General population | 1 in 482 | 1 in 48101 | 99% | ||
Mucopolysaccharidosis, Type IIIC (Sanfilippo C) |
HGSNAT (NM_ 152419.2) | Asian | < 1 in 500 | 1 in 9981 | >95% |
| Caucasian | 1 in 259 | 1 in 3687 | 93% | ||
| General population | 1 in 482 | 1 in 9621 | >95% | ||
Mucopolysaccharidosis, Type IIIC (Sanfilippo C) |
HGSNAT (NM_152419.2) | Asian | < 1 in 500 | 1 in 9981 | >95% |
| Caucasian | 1 in 259 | 1 in 3687 | 93% | ||
| General population | 1 in 482 | 1 in 9621 | >95% | ||
Mucopolysaccharidosis, Type IIID |
GNS (NM_002076.3) | General population | < 1 in 500 | 1 in 4991 | 90% |
Mucopolysaccharidosis, Type IIID (Sanfilippo D) |
GNS (NM_002076.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
Mucopolysaccharidosis, Type IIID (Sanfilippo D) |
GNS (NM_ 002076.3) | General population | < 1 in 500 | 1 in 4991 | 90% |
Mucopolysaccharidosis, Type IVA (Morquio Syndrome) |
GALNS (NM_000512.4) | General population | 1 in 307 | 1 in 30601 | 99% |
Mucopolysaccharidosis, Type IVB / GM1 Gangliosidosis |
GLB1 (NM_ 000404.2) | Caucasian | 1 in 278 | 1 in 5541 | >95% |
| Roma | 1 in 50 | 1 in 981 | >95% | ||
| South Brazilian | 1 in 58 | 1 in 1141 | >95% | ||
| General population | 1 in 158 | 1 in 3141 | >95% | ||
Mucopolysaccharidosis, Type IVB / GM1 Gangliosidosis |
GLB1 (NM_000404.3) | Caucasian | 1 in 278 | 1 in 27701 | 99% |
| General population | 1 in 158 | 1 in 15701 | 99% | ||
| Roma | 1 in 50 | 1 in 4901 | 99% | ||
| South Brazil | 1 in 65 | 1 in 6401 | 99% | ||
| Maltese | 1 in 30 | 1 in 2901 | 99% | ||
Mucopolysaccharidosis, Type IX |
HYAL1 (NM_153281.1) | General population | < 1 in 500 | 1 in 49901 | 99% |
Mucopolysaccharidosis, Type IX |
HYAL1 (NM_153281.1) | General population | < 1 in 500 | 1 in 9981 | >95% |
Mucopolysaccharidosis, Type IX |
HYAL1 (NM_ 153281.1) | General population | < 1 in 500 | 1 in 9981 | >95% |
Mucopolysaccharidosis, Type VI (Maroteaux-Lamy) |
ARSB (NM_ 000046.3) | Asian | 1 in 423 | 1 in 8441 | >95% |
| Caucasian | 1 in 273 | 1 in 5441 | >95% | ||
| General population | 1 in 291 | 1 in 5801 | >95% | ||
Mucopolysaccharidosis, Type VI (Maroteaux-Lamy) |
ARSB (NM_000046.4) | Asian | 1 in 423 | 1 in 42201 | 99% |
| Caucasian | 1 in 273 | 1 in 27201 | 99% | ||
| General population | 1 in 291 | 1 in 29001 | 99% | ||
Mucopolysaccharidosis, Type VI (Maroteaux-Lamy) |
ARSB (NM_000046.3) | Asian | 1 in 423 | 1 in 8441 | >95% |
| Caucasian | 1 in 273 | 1 in 5441 | >95% | ||
| General population | 1 in 291 | 1 in 5801 | >95% | ||
Mucopolysaccharidosis, Type VII |
GUSB (NM_000181.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Mulibrey Nanism |
TRIM37 (NM_015294.5) | General population | <1 in 500 | 1 in 49901 | 99% |
Multiple Pterygium Syndrome, CHRNG-Related / Escobar Syndrome |
CHRNG (NM_005199.4) | General population | 1 in 50 | 1 in 4901 | 99% |
Multiple Sulfatase Deficiency |
SUMF1 (NM_182760.3) | Ashkenazi Jewish | 1 in 279 | 1 in 5561 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Multiple Sulfatase Deficiency |
SUMF1 (NM_ 182760.3) | Ashkenazi Jewish | 1 in 279 | 1 in 5561 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Multiple Sulfatase Deficiency |
SUMF1 (NM_182760.3) | Ashkenazi Jewish | 1 in 279 | 1 in 27801 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Muscle-Eye- Brain Disease, POMGNT1-Related |
POMGNT1 (NM_017739.3) | Finnish | 1 in 111 | 1 in 2201 | >95% |
| General population | 1 in 462 | 1 in 9221 | 95% | ||
Muscle-Eye-Brain Disease, POMGNT1-Related |
POMGNT1 (NM_017739.3) | Finnish | 1 in 111 | 1 in 11001 | 99% |
| General population | 1 in 462 | 1 in 46101 | 99% | ||
Muscle-Eye-Brain Disease, POMGNT1-Related |
POMGNT1 (NM_ 017739.3) | Finnish | 1 in 111 | 1 in 2201 | >95% |
| General population | 1 in 462 | 1 in 9221 | 95% | ||
Muscular Dystrophy-Dystroglycanopathy |
RXYLT1 (NM_014254.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Musk-Related Congenital Myasthenic Syndrome |
MUSK (NM_005592.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Myoneurogastrointestinal Encephalopathy (MNGIE) |
TYMP (NM_ 001953.4) | Caucasian | 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Iranian | 1 in 158 | 1 in 3141 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Myoneurogastrointestinal Encephalopathy (MNGIE) |
TYMP (NM_001953.4) | Caucasian | <1 in 500 | 1 in 9981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
| Sephardic Jewish - Iranian | 1 in 158 | 1 in 3141 | >95% | ||
Myoneurogastrointestinal Encephalopathy (MNGIE) |
TYMP (NM_001953.4) | Caucasian | < 1 in 500 | 1 in 49901 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
| Sephardic Jewish - Iranian | 1 in 158 | 1 in 15701 | 99% | ||
Myotonia Congenita |
CLCN1 (NM_000083.3) | General population | 1 in 158 | 1 in 15701 | 99% |
| Finnish | 1 in 59 | 1 in 5801 | 99% | ||
| Norwegian | 1 in 53 | 1 in 5201 | 99% | ||
Myotubular Myopathy, MTM1-Related, X-Linked |
MTM1 (NM_000252.2) | General population | 1 in 38000 | 1 in 760000 | >95% |
Myotubular Myopathy, X-Linked |
MTM1 (NM_000252.2) | General population | 1 in 38000 | 1 in 3799901 | 99% |
Myotubular Myopathy, X-Linked |
MTM1 (NM_ 000252.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
N-acetylglutamate Synthase Deficiency |
NAGS (NM_ 153006.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
N-acetylglutamate Synthase Deficiency |
NAGS (NM_153006.2) | General population | < 1 in 500 | 1 in 49901 | 99% |
N-acetylglutamate Synthase Deficiency |
NAGS (NM_153006.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Nemaline Myopathy 2 |
NEB (NM_004543.4) | Ashkenazi Jewish | 1 in 168 | 1 in 3341 | >95% |
| Finnish | 1 in 112 | 1 in 445 | 75% | ||
| General population | 1 in 224 | 1 in 3718 | 94% | ||
Nemaline Myopathy, NEB-Related |
NEB (NM_001271208.1) | Ashkenazi Jewish | 1 in 168 | 1 in 16701 | 99% |
| Finnish | 1 in 112 | 1 in 11101 | 99% | ||
| General population | 1 in 224 | 1 in 22301 | 99% | ||
Nemaline Myopathy, NEB-Related |
NEB (NM_ 004543.4) | Ashkenazi Jewish | 1 in 168 | 1 in 3341 | >95% |
| Finnish | 1 in 112 | 1 in 445 | 75% | ||
| General population | 1 in 224 | 1 in 3718 | 94% | ||
Nephrogenic Diabetes Insipidus, Avpr2-Related |
AVPR2 (NM_000054.4) | General population | 1 in 63000 | 1 in 6299901 | 99% |
Nephronophthisis 1 |
NPHP1 (NM_000272.3) | General population | 1 in 202 | 1 in 20101 | 99% |
Nephrotic Syndrome, Type 1 |
NPHS1 (NM_004646.3) | Finnish | 1 in 45 | 1 in 881 | >95% |
| General population | 1 in 325 | 1 in 6481 | >95% | ||
| Groffdale Conference Mennonites | 1 in 12 | 1 in 221 | >95% | ||
Neuronal Ceroid LIpofuscinosis, CLN3-Related |
CLN3 (NM_000086.2) | Caucasian | 1 in 188 | 1 in 3741 | >95% |
| General population | 1 in 233 | 1 in 4641 | >95% | ||
Neuronal Ceroid Lipofuscinosis, CLN5-Related |
CLN5 (NM_006493.2) | Finnish | 1 in 100 | 1 in 1981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Neuronal Ceroid Lipofuscinosis, CLN5-Related |
CLN5 (NM_006493.2) | Finnish | 1 in 289 | 1 in 28801 | 99% |
| General population | 1 in 317 | 1 in 31601 | 99% | ||
Neuronal Ceroid Lipofuscinosis, CLN5-Related |
CLN5 (NM_ 006493.2) | Finnish | 1 in 100 | 1 in 1981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Neuronal Ceroid Lipofuscinosis, CLN6-Related |
CLN6 (NM_ 017882.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Neuronal Ceroid Lipofuscinosis, CLN6-Related |
CLN6 (NM_017882.2) | General population | 1 in 261 | 1 in 26001 | 99% |
Neuronal Ceroid Lipofuscinosis, CLN6-Related |
CLN6 (NM_017882.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Neuronal Ceroid Lipofuscinosis, CLN8-Related |
CLN8 (NM_018941.3) | Finnish | 1 in 135 | 1 in 2681 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Neuronal Ceroid Lipofuscinosis, CLN8-Related |
CLN8 (NM_018941.3) | Finnish | 1 in 135 | 1 in 13401 | 99% |
| General population | 1 in 349 | 1 in 34801 | 99% | ||
Neuronal Ceroid Lipofuscinosis, CLN8-Related |
CLN8 (NM_ 018941.3) | Finnish | 1 in 135 | 1 in 2681 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Neuronal Ceroid Lipofuscinosis, MFSD8-Related |
MFSD8 (NM_ 152778.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Neuronal Ceroid Lipofuscinosis, MFSD8-Related |
MFSD8 (NM_152778.2) | General population | < 1 in 500 | 1 in 49901 | 99% |
Neuronal Ceroid Lipofuscinosis, MFSD8-Related |
MFSD8 (NM_152778.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Neuronal Ceroid Lipofuscinosis, PPT1-Related |
PPT1 (NM_000310.3) | Finnish | 1 in 70 | 1 in 1381 | >95% |
| General population | 1 in 368 | 1 in 7341 | >95% | ||
Neuronal Ceroid Lipofuscinosis, PPT1-Related |
PPT1 (NM_000310.3) | Finnish | 1 in 70 | 1 in 6901 | 99% |
| General population | 1 in 368 | 1 in 36701 | 99% | ||
Neuronal Ceroid Lipofuscinosis, PPT1-Related |
PPT1 (NM_ 000310.3) | Finnish | 1 in 70 | 1 in 1381 | >95% |
| General population | 1 in 368 | 1 in 7341 | >95% | ||
Neuronal Ceroid Lipofuscinosis, TPP1-Related |
TPP1 (NM_ 000391.3) | Newfoundland | 1 in 59 | 1 in 1161 | >95% |
| General population | 1 in 314 | 1 in 6261 | >95% | ||
Neuronal Ceroid Lipofuscinosis, TPP1-Related |
TPP1 (NM_000391.3) | General population | 1 in 314 | 1 in 31301 | 99% |
| Newfoundland | 1 in 59 | 1 in 5801 | 99% | ||
Neuronal Ceroid Lipofuscinosis, TPP1-Related |
TPP1 (NM_000391.3) | General population | 1 in 314 | 1 in 6261 | >95% |
| Newfoundland | 1 in 59 | 1 in 1161 | >95% | ||
Ngly1-Congenital Disorder Of Glycosylation |
NGLY1 (NM_018297.3) | General population | 1 in 274 | 1 in 27301 | 99% |
Niemann-Pick Disease, Type C1/D |
NPC1 (NM_000271.4) | Asian | 1 in 404 | 1 in 40301 | 99% |
| Caucasian | 1 in 185 | 1 in 18401 | 99% | ||
| General population | 1 in 282 | 1 in 28101 | 99% | ||
Niemann-Pick Disease, Type C1/D |
NPC1 (NM_ 000271.4) | Asian | 1 in 404 | 1 in 2688 | 85% |
| Caucasian | 1 in 185 | 1 in 3681 | >95% | ||
| General population | 1 in 282 | 1 in 5621 | >95% | ||
Niemann-Pick Disease, Type C2 |
NPC2 (NM_ 006432.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Niemann-Pick Disease, Type C2 |
NPC2 (NM_006432.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
Niemann-Pick Disease, Type CI/D |
NPC1 (NM_000271.4) | Asian | 1 in 404 | 1 in 2688 | 85% |
| Caucasian | 1 in 185 | 1 in 3681 | >95% | ||
| General population | 1 in 282 | 1 in 5621 | >95% | ||
Niemann-Pick Disease, Type CII |
NPC2 (NM_006432.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Niemann-Pick Disease, Types A/B |
SMPD1 (NM_000543.4) | Ashkenazi Jewish | 1 in 115 | 1 in 2281 | >95% |
| Caucasian | 1 in 244 | 1 in 4861 | >95% | ||
| General population | 1 in 196 | 1 in 3901 | >95% | ||
Niemann-Pick Disease, Types A/B |
SMPD1 (NM_000543.5) | Ashkenazi Jewish | 1 in 115 | 1 in 2281 | >95% |
| Caucasian | 1 in 244 | 1 in 4861 | >95% | ||
| General population | 1 in 196 | 1 in 3901 | >95% | ||
Niemann-Pick Disease, Types A/B |
SMPD1 (NM_000543.4) | Ashkenazi Jewish | 1 in 115 | 1 in 11401 | 99% |
| Caucasian | 1 in 244 | 1 in 24301 | 99% | ||
| General population | 1 in 196 | 1 in 19501 | 99% | ||
Nijmegen Breakage Syndrome |
NBN (NM_002485.4) | Caucasian | 1 in 155 | 1 in 15401 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Nijmegen Breakage Syndrome |
NBN (NM_002485.4) | Caucasian | 1 in 155 | 1 in 3081 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Nijmegen Breakage Syndrome |
NBN (NM_ 002485.4) | Caucasian | 1 in 155 | 1 in 3081 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Non-Syndromic Hearing Loss, GJB2-Related |
GJB2 (NM_ 004004.5) | Ashkenazi Jewish | 1 in 21 | 1 in 401 | >95% |
| Asian | 1 in 50 | 1 in 981 | >95% | ||
| Caucasian | 1 in 42 | 1 in 821 | >95% | ||
| General population | 1 in 43 | 1 in 841 | >95% | ||
Non-Syndromic Hearing Loss, GJB2-Related |
GJB2 (NM_004004.5) | Ashkenazi Jewish | 1 in 21 | 1 in 2001 | 99% |
| Caucasian | 1 in 30 | 1 in 2901 | 99% | ||
| East Asian | 1 in 10 | 1 in 901 | 99% | ||
| General population | 1 in 42 | 1 in 4101 | 99% | ||
Nonsyndromic Hearing Loss, GJB2-Related |
GJB2 (NM_004004.5) | Ashkenazi Jewish | 1 in 21 | 1 in 401 | >95% |
| Asian | 1 in 50 | 1 in 981 | >95% | ||
| Caucasian | 1 in 42 | 1 in 821 | >95% | ||
| General population | 1 in 43 | 1 in 841 | >95% | ||
Nonsyndromic Hearing Loss, MYO15A-Related |
MYO15A (NM_016239.3) | General population | 1 in 117 | 1 in 11601 | 99% |
Nonsyndromic Hearing Loss, Otoa-Related |
OTOA (NM_144672.3) | General population | ≤1 in 500 | 1 in 4159 | 88% |
Nonsyndromic Hearing Loss, Otof-Related |
OTOF (NM_194248.3) | General population | 1 in 96 | 1 in 9501 | 99% |
Nonsyndromic Hearing Loss, Pjvk-Related |
PJVK (NM_001042702.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Nonsyndromic Hearing Loss, Syne4-Related |
SYNE4 (NM_001039876.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Nonsyndromic Hearing Loss, TMPRSS3-Related |
TMPRSS3 (NM_024022.2) | General population | 1 in 96 | 1 in 9501 | 99% |
Nonsyndromic Hearing Loss, Tmc1-Related |
TMC1 (NM_138691.2) | General population | 1 in 96 | 1 in 9501 | 99% |
Nonsyndromic Intellectual Disability |
CC2D1A (NM_017721.5) | General population | ≤1 in 500 | 1 in 49901 | 99% |
| Ashkenazi Jewish | 1 in 445 | 1 in 44401 | 99% | ||
Normophosphatemic Tumoral Calcinosis |
SAMD9 (NM_017654.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Occipital Horn Syndrome (Motor neuropathy, distal), X-Linked |
ATP7A (NM_000052.6) | General population | 1 in 75000 | 1 in 580000 | 87% |
Oculocutaneous Albinism Type Iv |
SLC45A2 (NM_016180.4) | General population | 1 in 158 | 1 in 15700 | 99% |
Oculocutaneous Albinism Type, Iii |
TYRP1 (NM_000550.2) | General population | 1 in 488 | 1 in 48701 | 99% |
Oculocutaneous Albinism, OCA2-Related |
OCA2 (NM_000275.2) | General population | 1 in 76 | 1 in 7501 | 99% |
| African American | 1 in 50 | 1 in 4901 | 99% | ||
| Native American | 1 in 22 | 1 in 2101 | 99% | ||
Oculocutaneous Albinism, Types 1A and 1B |
TYR (NM_000372.4) | General population | 1 in 20 | 1 in 1901 | 99% |
Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome |
WNT10A (NM_025216.2) | General population | 1 in 305 | 1 in 6081 | >95% |
Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome |
WNT10A (NM_ 025216.2) | General population | 1 in 305 | 1 in 6081 | >95% |
Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome |
WNT10A (NM_025216.2) | General population | 1 in 305 | 1 in 30401 | 99% |
Omenn Syndrome |
DCLRE1C (NM_001033855.1) | General population | < 1 in 500 | 1 in 2627 | 81% |
| Navajo and Apache Native Americans | 1 in 48 | 1 in 941 | >95% | ||
Omenn Syndrome, RAG2-Related |
RAG2 (NM_000536.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Iraqi | < 1 in 500 | 1 in 49901 | >99% | ||
Omenn Syndrome, RAG2-Related |
RAG2 (NM_000536.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Sephardic Jewish - Iraqi | < 1 in 500 | 1 in 49901 | 99% | ||
Omenn Syndrome, RAG2-Related |
RAG2 (NM_000536.2) | Sephardic Jewish - Iraqi | Unknown | Unknown | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Opitz G/BBB Syndrome, X-Linked |
MID1 (NM_000381.3) | General population | 1 in 37500 | 1 in 3749901 | 99% |
Ornithine Aminotransferase Deficiency |
OAT (NM_000274.3) | Finnish | 1 in 147 | 1 in 2921 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
| Sephardic Jewish - Iraqi, Syrian | 1 in 177 | 1 in 3521 | >95% | ||
Ornithine Aminotransferase Deficiency |
OAT (NM_ 000274.3) | Finnish | 1 in 147 | 1 in 2921 | >95% |
| Sephardic Jewish - Iraqi, Syrian | 1 in 177 | 1 in 3521 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Ornithine Aminotransferase Deficiency |
OAT (NM_000274.3) | Finnish | 1 in 147 | 1 in 14601 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
| Sephardic Jewish - Iraqi, Syrian | 1 in 177 | 1 in 17601 | 99% | ||
Ornithine Transcarbamylase Deficiency |
OTC (NM_000531.5) | General population | < 1 in 30000 | 1 in 2999901 | 99% |
Ornithine Transcarbamylase Deficiency |
OTC (NM_ 000531.5) | General population | < 1 in 500 | 1 in 9981 | 95% |
Ornithine Transcarbamylase Deficiency, X-Linked |
OTC (NM_000531.5) | General population | < 1 in 30000 | 1 in 600000 | 95% |
Ornithine Translocase Deficiency |
SLC25A15 (NM_014252.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Metis from Saskatchewan | 1 in 19 | 1 in 361 | >95% | ||
Osteogenesis Imperfecta Type Vii |
CRTAP (NM_006371.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Osteogenesis Imperfecta Type Viii |
P3H1 (NM_022356.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
| African American | 1 in 240 | 1 in 23901 | 99% | ||
Osteogenesis Imperfecta Type Xi |
FKBP10 (NM_021939.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Osteogenesis Imperfecta Type Xiii |
BMP1 (NM_006129.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Osteopetrosis, Infantile Malignant, TCIRG1-Related |
TCIRG1 (NM_006019.2) | Ashkenazi Jewish | 1 in 350 | 1 in 6981 | >95% |
| Chuvashiya | 1 in 60 | 1 in 1181 | >95% | ||
| Costa Rican | 1 in 86 | 1 in 1701 | >95% | ||
| General population | 1 in 316 | 1 in 6301 | 95% | ||
Osteopetrosis, Infantile Malignant, TCIRG1-Related |
TCIRG1 (NM_006019.2) | Ashkenazi Jewish | 1 in 350 | 1 in 6981 | >95% |
| Chuvashiya | 1 in 60 | 1 in 1181 | >95% | ||
| Costa Rican | 1 in 86 | 1 in 1701 | >95% | ||
| General population | 1 in 316 | 1 in 6301 | 95% | ||
Osteopetrosis, Infantile Malignant, TCIRG1-Related |
TCIRG1 (NM_006019.3) | Ashkenazi Jewish | 1 in 350 | 1 in 34901 | 99% |
| Chuvashiya | 1 in 60 | 1 in 5901 | 99% | ||
| General population | 1 in 316 | 1 in 31501 | 99% | ||
| Costa Rican | 1 in 86 | 1 in 8501 | 99% | ||
Osteopetrosis, Ostm1-Related |
OSTM1 (NM_014028.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
PLP1 Disorders |
PLP1 (NM_000533.4) | General population | 1 in 37500 | 1 in 3749901 | 99% |
| Northern European Caucasian | 1 in 57700 | 1 in 5769901 | 99% | ||
POLG-Related Disorders |
POLG (NM_002693.2) | General population | 1 in 50 | 1 in 4901 | 99% |
PROP1-Related Combined Pituitary Hormone Deficiency |
PROP1 (NM_006261.4) | General population | 1 in 141 | 1 in 2801 | >95% |
Pantothenate Kinase-Associated Neurodegeneration |
PANK2 (NM_153638.2) | General population | 1 in 289 | 1 in 28800 | 99% |
Papillon Lefèvre Syndrome |
CTSC (NM_001814.5) | General population | 1 in 250 | 1 in 24900 | 99% |
Parkinson Disease 15 |
FBXO7 (NM_012179.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Pendred Syndrome |
SLC26A4 (NM_000441.1) | African American | 1 in 76 | 1 in 7501 | 99% |
| Asian | 1 in 74 | 1 in 7301 | 99% | ||
| Caucasian | 1 in 88 | 1 in 8701 | 99% | ||
| General population | 1 in 80 | 1 in 7901 | 99% | ||
Pendred Syndrome |
SLC26A4 (NM_000441.1) | African American | 1 in 76 | 1 in 1501 | >95% |
| Asian | 1 in 74 | 1 in 1461 | >95% | ||
| Caucasian | 1 in 88 | 1 in 1244 | 93% | ||
| General population | 1 in 80 | 1 in 1581 | >95% | ||
Pendred Syndrome |
SLC26A4 (NM_ 000441.1) | African American | 1 in 76 | 1 in 1501 | >95% |
| Asian | 1 in 74 | 1 in 1461 | >95% | ||
| Caucasian | 1 in 88 | 1 in 1244 | 93% | ||
| General population | 1 in 80 | 1 in 1581 | >95% | ||
Perlman Syndrome |
DIS3L2 (NM_152383.4) | General population | < 1 in 500 | 1 in 49901 | 99% |
Pgm3-Congenital Disorder Of Glycosylation |
PGM3 (NM_001199917.1) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Phenylalanine Hydroxylase Deficiency |
PAH (NM_000277.1) | African American | 1 in 143 | 1 in 2841 | >95% |
| Ashkenazi Jewish | 1 in 225 | 1 in 3201 | 93% | ||
| Asian | 1 in 78 | 1 in 1541 | >95% | ||
| Caucasian | 1 in 50 | 1 in 981 | >95% | ||
| General population | 1 in 65 | 1 in 1281 | >95% | ||
| Irish | 1 in 34 | 1 in 413 | 92% | ||
| Sephardic Jewish - Iranian, Bukharian, Kavkazi, Tunisian, Moroccan | 1 in 18 | 1 in 190 | 91% | ||
| Sicilian | 1 in 26 | 1 in 501 | >95% | ||
| Turkish | 1 in 32 | 1 in 621 | >95% | ||
Phenylketonuria |
PAH (NM_000277.2) | African American | 1 in 143 | 1 in 14201 | 99% |
| Ashkenazi Jewish | 1 in 225 | 1 in 22401 | 99% | ||
| Asian | 1 in 78 | 1 in 7701 | 99% | ||
| Caucasian | 1 in 50 | 1 in 4901 | 99% | ||
| General population | 1 in 65 | 1 in 6401 | 99% | ||
| Irish | 1 in 34 | 1 in 3301 | 99% | ||
| Sicilian | 1 in 26 | 1 in 2501 | 99% | ||
| Turkish | 1 in 32 | 1 in 3101 | 99% | ||
| Sephardic Jewish - Iranian, Bukharian, Kavkazi, Tunisian, Moroccan | 1 in 18 | 1 in 1701 | 99% | ||
Phenylketonuria |
PAH (NM_ 000277.1) | African American | 1 in 143 | 1 in 2841 | >95% |
| Ashkenazi Jewish | 1 in 225 | 1 in 3201 | 93% | ||
| Asian | 1 in 78 | 1 in 1541 | >95% | ||
| Caucasian | 1 in 50 | 1 in 981 | >95% | ||
| Irish | 1 in 34 | 1 in 413 | 92% | ||
| Sephardic Jewish - Iranian, Bukharian, Kavkazi, Tunisian, Moroccan | 1 in 18 | 1 in 190 | 91% | ||
| Sicilian | 1 in 26 | 1 in 501 | >95% | ||
| Turkish | 1 in 32 | 1 in 621 | >95% | ||
| General population | 1 in 65 | 1 in 1281 | >95% | ||
Pign-Congenital Disorder Of Glycosylation |
PIGN (NM_176787.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Pituitary Hormone Deficiency, Combined 3 |
LHX3 (NM_ 014564.3) | General population | < 1 in 500 | 1 in 6238 | 92% |
Pituitary Hormone Deficiency, Combined 3 |
LHX3 (NM_014564.4) | General population | < 1 in 500 | 1 in 49901 | 99% |
Polycystic Kidney Disease, Autosomal Recessive |
PKHD1 (NM_138694.3) | Ashkenazi Jewish | 1 in 106 | 1 in 10501 | 99% |
| Caucasian | 1 in 100 | 1 in 9901 | 99% | ||
| General population | 1 in 144 | 1 in 14301 | 99% | ||
| South African Afrikaner | 1 in 52 | 1 in 5101 | 99% | ||
Polycystic Kidney Disease, Autosomal Recessive |
PKHD1 (NM_ 138694.3) | Ashkenazi Jewish | 1 in 106 | 1 in 2101 | >95% |
| Caucasian | 1 in 100 | 1 in 1981 | >95% | ||
| South African Afrikaner | 1 in 52 | 1 in 1021 | >95% | ||
| General population | 1 in 144 | 1 in 2861 | >95% | ||
Pontocerebellar Hypoplasia, EXOSC3-Related |
EXOSC3 (NM_016042.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Pontocerebellar Hypoplasia, RARS2-Related |
RARS2 (NM_020320.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Iraqi, Syrian, Tunisian | < 1 in 500 | 1 in 49901 | >99% | ||
Pontocerebellar Hypoplasia, RARS2-Related |
RARS2 (NM_ 020320.3) | Sephardic Jewish - Iraqi, Syrian, Tunisian | Unknown | Unknown | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Pontocerebellar Hypoplasia, RARS2-Related |
RARS2 (NM_020320.4) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Sephardic Jewish - Iraqi, Syrian, Tunisian | < 1 in 500 | 1 in 49901 | 99% | ||
Pontocerebellar Hypoplasia, TSEN2-Related |
TSEN2 (NM_025265.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Pontocerebellar Hypoplasia, TSEN54-Related |
TSEN54 (NM_207346.2) | General population | <1 in 500 | 1 in 49901 | 99% |
Pontocerebellar Hypoplasia, Type 1A |
VRK1 (NM_003384.2) | Ashkenazi Jewish | 1 in 225 | 1 in 22401 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Pontocerebellar Hypoplasia, Type 1A |
VRK1 (NM_ 003384.2) | Ashkenazi Jewish | 1 in 225 | 1 in 4481 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Pontocerebellar Hypoplasia, Type 2D |
SEPSECS (NM_ 016955.3) | Sephardic Jewish - Moroccan, Iraqi | 1 in 41 | 1 in 801 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Pontocerebellar Hypoplasia, Type 2D |
SEPSECS (NM_016955.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Sephardic Jewish - Moroccan, Iraqi | 1 in 41 | 1 in 4001 | 99% | ||
Pontocerebellar Hypoplasia, VPS53-Related |
VPS53 (NM_001128159.2) | General population | <1 in 500 | 1 in 49901 | 99% |
Pontocerebellar Hypoplasia, VRK1-Related |
VRK1 (NM_003384.2) | Ashkenazi Jewish | 1 in 225 | 1 in 4481 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Primary Ciliary Dyskinesia, Ccdc103-Related |
CCDC103 (NM_213607.2) | General population | 1 in 217 | 1 in 21601 | 99% |
Primary Ciliary Dyskinesia, Ccdc39-Related |
CCDC39 (NM_181426.1) | General population | 1 in 144 | 1 in 14301 | 99% |
Primary Ciliary Dyskinesia, DNAH5-Related |
DNAH5 (NM_001369.2) | Ashkenazi Jewish | 1 in 174 | 1 in 3461 | >95% |
| General population | 1 in 120 | 1 in 2381 | >95% | ||
Primary Ciliary Dyskinesia, DNAH5-Related |
DNAH5 (NM_001369.2) | Ashkenazi Jewish | 1 in 174 | 1 in 17301 | 99% |
| General population | 1 in 120 | 1 in 11901 | 99% | ||
Primary Ciliary Dyskinesia, DNAH5-Related |
DNAH5 (NM_ 001369.2) | Ashkenazi Jewish | 1 in 174 | 1 in 3461 | >95% |
| General population | 1 in 120 | 1 in 2381 | >95% | ||
Primary Ciliary Dyskinesia, DNAI1-Related |
DNAI1 (NM_012144.3 | Ashkenazi Jewish | 1 in 352 | 1 in 7021 | >95% |
| General population | 1 in 182 | 1 in 3621 | >95% | ||
Primary Ciliary Dyskinesia, DNAI1-Related |
DNAI1 (NM_012144.3) | Ashkenazi Jewish | 1 in 352 | 1 in 7021 | >95% |
| General population | 1 in 182 | 1 in 3621 | >95% | ||
Primary Ciliary Dyskinesia, DNAI1-Related |
DNAI1 (NM_012144.3) | Ashkenazi Jewish | 1 in 352 | 1 in 35101 | 99% |
| General population | 1 in 182 | 1 in 18101 | 99% | ||
Primary Ciliary Dyskinesia, DNAI2-Related |
DNAI2 (NM_023036.5) | Ashkenazi Jewish | 1 in 200 | 1 in 19901 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Primary Ciliary Dyskinesia, DNAI2-Related |
DNAI2 (NM_ 023036.4) | Ashkenazi Jewish | 1 in 200 | 1 in 3981 | >95% |
| General population | 1 in 500 | 1 in 9981 | >95% | ||
Primary Ciliary Dyskinesia, DNAI2-Related |
DNAI2 (NM_023036.4) | Ashkenazi Jewish | 1 in 200 | 1 in 3981 | >95% |
| General population | <1 in 500 | 1 in 9981 | >95% | ||
Primary Ciliary Dyskinesia, Dnah11-Related |
DNAH11 (NM_001277115.1) | General population | 1 in 144 | 1 in 14301 | 99% |
Primary Congenital Glaucoma / Peters Anomaly |
CYP1B1 (NM_000104.3) | General population | 1 in 74 | 1 in 7301 | 99% |
Primary Hyperoxaluria, Type 1 |
AGXT (NM_000030.2) | General population | 1 in 158 | 1 in 15701 | 99% |
Primary Hyperoxaluria, Type 1 |
AGXT (NM_ 000030.2) | General population | 1 in 158 | 1 in 3141 | >95% |
Primary Hyperoxaluria, Type 2 |
GRHPR (NM_ 012203.1) | General population | < 1 in 500 | 1 in 9981 | >95% |
Primary Hyperoxaluria, Type 2 |
GRHPR (NM_012203.1) | General population | < 1 in 500 | 1 in 49901 | 99% |
Primary Hyperoxaluria, Type 3 |
HOGA1 (NM_138413.3) | General population | 1 in 309 | 1 in 30801 | 99% |
Primary Hyperoxaluria, Type 3 |
HOGA1 (NM_ 138413.3) | Ashkenazi Jewish | unknown | unknown | >95% |
| General population | 1 in 309 | 1 in 6161 | >95% | ||
Primary Hyperoxaluria, Type I |
AGXT (NM_000030.2) | General population | 1 in 158 | 1 in 3141 | >95% |
Primary Hyperoxaluria, Type II |
GRHPR (NM_012203.1) | General population | < 1 in 500 | 1 in 9981 | >95% |
Primary Hyperoxaluria, Type III |
HOGA1 (NM_138413.3) | General population | 1 in 309 | 1 in 6161 | >95% |
Primary Microcephaly 1, Autosomal Recessive |
MCPH1 (NM_024596.3) | General population | 1 in 146 | 1 in 14501 | 99% |
| Northern European Caucasian | 1 in 500 | 1 in 49901 | 99% | ||
Progressive Cerebello-Cerebral Atrophy |
SEPSECS (NM_016955.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Moroccan, Iraqi | 1 in 41 | 1 in 801 | >95% | ||
Progressive Early-Onset Encephalopathy With Brain Atrophy And Thin Corpus Callosum |
TBCD (NM_005993.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Progressive Familial Intrahepatic Cholestasis, Abcb4-Related |
ABCB4 (NM_000443.3) | General population | 1 in 194 | 1 in 19301 | 99% |
Progressive Familial Intrahepatic Cholestasis, Type 1 (PFIC1) |
ATP8B1 (NM_005603.5) | General population | 1 in 53 | 1 in 5201 | 99% |
Progressive Familial Intrahepatic Cholestasis, Type 2 |
ABCB11 (NM_ 003742.2) | General population | 1 in 158 | 1 in 3141 | >95% |
Progressive Familial Intrahepatic Cholestasis, Type 2 |
ABCB11 (NM_003742.2) | General population | 1 in 158 | 1 in 15701 | 99% |
Progressive Familial Intrahepatic Cholestasis, Type 4 (PFIC4) |
TJP2 (NM_004817.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Progressive Familial Intrahepatic Cholestasis, Type II |
ABCB11 (NM_003742.2) | General population | 1 in 158 | 1 in 3141 | >95% |
Progressive Pseudorheumatoid Dysplasia |
CCN6 (NM_003880.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Prolidase Deficiency |
PEPD (NM_000285.3) | General population | 1 in 242 | 1 in 24101 | 99% |
Propionic Acidemia, PCCA-Related |
PCCA (NM_000282.3) | Asian | 1 in 162 | 1 in 1611 | 90% |
| Caucasian | 1 in 380 | 1 in 1405 | 73% | ||
| General population | 1 in 224 | 1 in 1488 | 85% | ||
Propionic Acidemia, PCCA-Related |
PCCA (NM_000282.3) | Asian | 1 in 162 | 1 in 16101 | 99% |
| Caucasian | 1 in 380 | 1 in 37901 | 99% | ||
| General population | 1 in 224 | 1 in 22301 | 99% | ||
Propionic Acidemia, PCCA-Related |
PCCA (NM_ 000282.3) | Asian | 1 in 162 | 1 in 1611 | 90% |
| Caucasian | 1 in 380 | 1 in 1405 | 73% | ||
| General population | 1 in 224 | 1 in 1488 | 85% | ||
Propionic Acidemia, PCCB-Related |
PCCB (NM_ 000532.4) | Asian | 1 in 145 | 1 in 2881 | >95% |
| Caucasian | 1 in 202 | 1 in 1676 | 88% | ||
| General population | 1 in 224 | 1 in 4461 | >95% | ||
Propionic Acidemia, PCCB-Related |
PCCB (NM_000532.4) | Asian | 1 in 145 | 1 in 2881 | >95% |
| Caucasian | 1 in 202 | 1 in 1676 | 88% | ||
| General population | 1 in 224 | 1 in 4461 | >95% | ||
Propionic Acidemia, PCCB-Related |
PCCB (NM_000532.4) | Asian | 1 in 145 | 1 in 14401 | 99% |
| Caucasian | 1 in 202 | 1 in 20101 | 99% | ||
| General population | 1 in 224 | 1 in 22301 | 99% | ||
Pseudocholinesterase Deficiency |
BCHE (NM_000055.3) | General population | 1 in 53 | 1 in 5201 | 99% |
Pseudoxanthoma Elasticum |
ABCC6 (NM_001171.5) | General population | 1 in 79 | 1 in 7801 | 99% |
Pterin-4 Alpha-Carbinolamine Dehydratase (Pcd) Deficiency |
PCBD1 (NM_000281.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Pycnodysostosis |
CTSK (NM_000396.3) | General population | 1 in 438 | 1 in 8741 | >95% |
Pycnodysostosis |
CTSK (NM_ 000396.3) | General population | 1 in 438 | 1 in 8741 | >95% |
Pycnodysostosis |
CTSK (NM_000396.3) | General population | 1 in 439 | 1 in 43801 | 99% |
Pyridoxal 5'-Phosphate-Dependent Epilepsy |
PNPO (NM_018129.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Pyridoxine-Dependent Epilepsy |
ALDH7A1 (NM_001182.4) | General population | 1 in 158 | 1 in 15701 | 99% |
Pyruvate Carboxylase Deficiency |
PC (NM_000920.3) | General population | 1 in 250 | 1 in 24901 | 99% |
Pyruvate Dehydrogenase Deficiency, PDHA1-Related, X-Linked |
PDHA1 (NM_000284.3) | General population | < 1 in 750000 | 1 in 1000000 | 94% |
Pyruvate Dehydrogenase Deficiency, PDHB-Related |
PDHB (NM_000925.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Pyruvate Dehydrogenase Deficiency, PDHB-Related |
PDHB (NM_000925.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
Pyruvate Dehydrogenase Deficiency, PDHB-Related |
PDHB (NM_ 000925.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Pyruvate Dehydrogenase Deficiency, X-Linked |
PDHA1 (NM_ 000284.3) | General population | < 1 in 500 | 1 in 8318 | 94% |
Pyruvate Dehydrogenase Deficiency, X-Linked |
PDHA1 (NM_000284.3) | General population | < 1 in 750000 | 1 in 74999901 | 99% |
Refsum Disease, PHYH-Related |
PHYH (NM_006214.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Renal Tubular Acidosis and Deafness, ATP6V1B1-Related |
ATP6V1B1 (NM_001692.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Sephardic Jewish - Syrian | 1 in 140 | 1 in 2781 | >95% | ||
Renal Tubular Acidosis and Deafness, ATP6V1B1-Related |
ATP6V1B1 (NM_001692.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Sephardic Jewish - Syrian | 1 in 140 | 1 in 13901 | 99% | ||
Renal Tubular Acidosis and Deafness, ATP6V1B1-Related |
ATP6V1B1 (NM_001692.3) | Sephardic Jewish - Syrian | 1 in 140 | 1 in 2781 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation |
SLC4A4 (NM_003759.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Retinitis Pigmentosa 2 |
RP2 (NM_006915.2) | General population | 1 in 58000 | 1 in 5799901 | 99% |
Retinitis Pigmentosa 25 |
EYS (NM_001142800.1) | Ashkenazi Jewish | < 1 in 500 | 1 in 9981 | >95% |
| Caucasian | 1 in 53 | 1 in 187 | 72% | ||
| General population | 1 in 129 | 1 in 1601 | 92% | ||
| Sephardic Jewish - Moroccan | 1 in 42 | 1 in 821 | >95% | ||
Retinitis Pigmentosa 25 |
EYS (NM_ 001142800.1) | Ashkenazi Jewish | < 1 in 500 | 1 in 9981 | >95% |
| Caucasian | 1 in 53 | 1 in 187 | 72% | ||
| Sephardic Jewish - Moroccan | 1 in 42 | 1 in 821 | >95% | ||
| General population | 1 in 129 | 1 in 1601 | 92% | ||
Retinitis Pigmentosa 25 |
EYS (NM_001142800.1) | Ashkenazi Jewish | < 1 in 500 | 1 in 49901 | 99% |
| Caucasian | 1 in 53 | 1 in 5201 | 99% | ||
| General population | 1 in 129 | 1 in 12801 | 99% | ||
| Sephardic Jewish - Moroccan | 1 in 42 | 1 in 4101 | 99% | ||
Retinitis Pigmentosa 26 |
CERKL (NM_001030311.2) | General population | 1 in 137 | 1 in 13601 | 99% |
| Sephardic Jewish - Yemenite | 1 in 24 | 1 in 2301 | 99% | ||
Retinitis Pigmentosa 26 |
CERKL (NM_001030311.2) | General population | 1 in 137 | 1 in 2721 | >95% |
| Sephardic Jewish - Yemenite | 1 in 24 | 1 in 461 | >95% | ||
Retinitis Pigmentosa 26 |
CERKL (NM_ 001030311.2) | Sephardic Jewish - Yemenite | 1 in 24 | 1 in 461 | >95% |
| General population | 1 in 137 | 1 in 2721 | >95% | ||
Retinitis Pigmentosa 28 |
FAM161A (NM_ 032180.2) | Ashkenazi Jewish | 1 in 214 | 1 in 4261 | >95% |
| Sephardic Jewish - Libyan, Moroccan, Tunisian, Bulgarian | 1 in 41 | 1 in 801 | >95% | ||
| General population | 1 in 289 | 1 in 5761 | >95% | ||
Retinitis Pigmentosa 28 |
FAM161A (NM_001201543.1) | Ashkenazi Jewish | 1 in 214 | 1 in 21301 | 99% |
| General population | 1 in 289 | 1 in 28801 | 99% | ||
| Sephardic Jewish - Libyan, Moroccan, Tunisian, Bulgarian | 1 in 41 | 1 in 4001 | 99% | ||
Retinitis Pigmentosa 28 |
FAM161A (NM_032180.2) | Ashkenazi Jewish | 1 in 214 | 1 in 4261 | >95% |
| General population | 1 in 289 | 1 in 5761 | >95% | ||
| Sephardic Jewish - Libyan, Moroccan, Tunisian, Bulgarian | 1 in 41 | 1 in 801 | >95% | ||
Retinitis Pigmentosa 36 |
PRCD (NM_001077620.2) | General population | <1 in 500 | 1 in 49901 | 99% |
Retinitis Pigmentosa 59 |
DHDDS (NM_024887.3) | Ashkenazi Jewish | 1 in 117 | 1 in 2321 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Retinitis Pigmentosa 59 |
DHDDS (NM_ 001243564.1) | Ashkenazi Jewish | 1 in 117 | 1 in 2321 | >95% |
| General population | < 1 in 500 | 1 in 9900 | >95% | ||
Retinitis Pigmentosa 59 |
DHDDS (NM_001243564.1) | Ashkenazi Jewish | 1 in 333 | 1 in 11601 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Retinitis Pigmentosa 59 |
DHDDS (NM_024887.3) | Ashkenazi Jewish | 1 in 333 | 1 in 11601 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Retinitis Pigmentosa 62 |
MAK (NM_001242957.2) | General population | <1 in 500 | 1 in 49901 | 99% |
| Ashkenazi Jewish | 1 in 55 | 1 in 5401 | 99% | ||
Retinitis Pigmentosa, X-Linked, RPGR-Related |
RPGR (NM_001034853.2) | General population | 1 in 20000 | 1 in 2000000 | 99% |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
PEX7 (NM_000288.3) | Caucasian | 1 in 158 | 1 in 3141 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Rhizomelic Chondrodysplasia Punctata, Type 1 |
PEX7 (NM_000288.3) | Caucasian | 1 in 158 | 1 in 15701 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Rhizomelic Chondrodysplasia Punctata, Type 1 |
PEX7 (NM_000288.4) | Caucasian | 1 in 158 | 1 in 3141 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Rhizomelic Chondrodysplasia Punctata, Type 2 |
GNPAT (NM_014236.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
AGPS (NM_ 003659.3) | General population | <1 in 500 | 1 in 7130 | 93% |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
AGPS (NM_003659.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
Rhizomelic Chondrodysplasia Punctata, Type III |
AGPS (NM_003659.3) | General population | <1 in 500 | 1 in 7130 | 93% |
Riboflavin Responsive Complex 1 Deficiency (Acyl-CoEnzyme Dehydrogenase 9 Deficiency) |
ACAD9(NM014049.4) | General population | < 1 in 500 | 1 in 9981 | >95% |
Rlbp1-Related Retinopathy |
RLBP1 (NM_000326.4) | General population | 1 in 296 | 1 in 29500 | 99% |
Roberts Syndrome |
ESCO2 (NM_001017420.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Roberts Syndrome |
ESCO2 (NM_001017420.2) | General population | < 1 in 500 | 1 in 49901 | 99% |
Roberts Syndrome |
ESCO2 (NM_ 001017420.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Ryr1-Related Conditions |
RYR1 (NM_000540.2) | General population | 1 in 150 | 1 in 14901 | 99% |
SLC26A2-Related Skeletal Dysplasias |
SLC26A2 (NM_000112.3) | Finnish | 1 in 50 | 1 in 981 | >95% |
| General population | 1 in 158 | 1 in 3141 | >95% | ||
Salla Disease |
SLC17A5 (NM_ 012434.4) | Canadian Inuit | 1 in 129 | 1 in 2561 | >95% |
| Finnish | 1 in 100 | 1 in 1981 | >95% | ||
| Swedish | 1 in 125 | 1 in 2481 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Salla Disease |
SLC17A5 (NM_012434.4) | Canadian Inuit | 1 in 129 | 1 in 2561 | >95% |
| Finnish | 1 in 100 | 1 in 1981 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
| Swedish | 1 in 125 | 1 in 2481 | >95% | ||
Salla Disease |
SLC17A5 (NM_012434.4) | Canadian Inuit | 1 in 129 | 1 in 12801 | 99% |
| Finnish | 1 in 100 | 1 in 9901 | 99% | ||
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
| Swedish | 1 in 125 | 1 in 12401 | 99% | ||
Sandhoff Disease |
HEXB (NM_000521.3) | Argentinian Creole | 1 in 64 | 1 in 6301 | 99% |
| Ashkenazi Jewish | < 1 in 500 | 1 in 49901 | 99% | ||
| Caucasian | 1 in 235 | 1 in 23401 | 99% | ||
| General population | 1 in 278 | 1 in 27701 | 99% | ||
Sandhoff Disease |
HEXB (NM_ 000521.3) | Argentinian Creole | 1 in 26 | 1 in 501 | >95% |
| Caucasian | 1 in 235 | 1 in 4681 | >95% | ||
| Metis Nation - Saskatchewan | 1 in 15 | 1 in 281 | >95% | ||
| General population | 1 in 180 | 1 in 3581 | >95% | ||
Sandhoff Disease |
HEXB (NM_000521.3) | Argentinian Creole | 1 in 26 | 1 in 501 | >95% |
| Caucasian | 1 in 235 | 1 in 4681 | >95% | ||
| General population | 1 in 180 | 1 in 3581 | >95% | ||
| Metis from Saskatchewan | 1 in 15 | 1 in 281 | >95% | ||
Schimke Immunoosseous Dysplasia |
SMARCAL1 (NM_014140.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Schimke Immunoosseous Dysplasia |
SMARCAL1 (NM_014140.3) | General population | < 1 in 500 | 1 in 49901 | 99% |
Schimke Immunoosseous Dysplasia |
SMARCAL1 (NM_ 014140.3) | General population | < 1 in 500 | 1 in 9981 | >95% |
Schindler Disease |
NAGA (NM_000262.3) | General population | 1 in 94 | 1 in 9301 | 99% |
Segawa Syndrome, TH-Related |
TH (NM_ 000360.3) | Asian | 1 in 416 | 1 in 8301 | >95% |
| Caucasian | 1 in 224 | 1 in 4461 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Segawa Syndrome, TH-Related |
TH (NM_199292.2) | Asian | 1 in 416 | 1 in 41501 | 99% |
| Caucasian | 1 in 224 | 1 in 22301 | 99% | ||
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Senior-Loken Syndrome 4 / Nephronophthisis 4 |
NPHP4 (NM_015102.4) | General population | <1 in 500 | 1 in 49901 | 99% |
Sepiapterin Reductase Deficiency |
SPR (NM_003124.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Severe Combined Immunodeficiency (Scid), Cd3D-Related |
CD3D (NM_000732.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Severe Combined Immunodeficiency (Scid), Cd3E-Related |
CD3E (NM_000733.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Severe Combined Immunodeficiency (Scid), Foxn1-Related |
FOXN1 (NM_003593.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Severe Combined Immunodeficiency (Scid), Ikbkb-Related |
IKBKB (NM_001556.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Severe Combined Immunodeficiency (Scid), Il7R-Related |
IL7R (NM_002185.3) | General population | 1 in 388 | 1 in 38701 | 99% |
Severe Combined Immunodeficiency (Scid), Jak3-Related |
JAK3 (NM_000215.3) | General population | 1 in 299 | 1 in 29801 | 99% |
Severe Combined Immunodeficiency (Scid), Ptprc-Related |
PTPRC (NM_002838.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Severe Combined Immunodeficiency, ADA-Related |
ADA (NM_000022.3) | General population | 1 in 224 | 1 in 22301 | 99% |
Severe Combined Immunodeficiency, ADA-Related |
ADA (NM_ 000022.2) | General population | 1 in 337 | 1 in 6721 | >95% |
Severe Combined Immunodeficiency, IL2RG-Related, X-Linked |
IL2RG (NM_000206.2) | General population | 1 in 38000 | 1 in 760000 | >95% |
Severe Combined Immunodeficiency, RAG1-Related |
RAG1 (NM_000448.2) | General population | 1 in 245 | 1 in 24401 | 99% |
Severe Combined Immunodeficiency, Type Athabaskan |
DCLRE1C (NM_001033855.1) | Navajo and Apache Native Americans | 1 in 48 | 1 in 941 | >95% |
| General population | < 1 in 500 | 1 in 2627 | 81% | ||
Severe Combined Immunodeficiency, Type Athabaskan |
DCLRE1C (NM_001033855.2) | General population | < 1 in 500 | 1 in 49901 | 99% |
| Navajo and Apache Native Americans | 1 in 10 | 1 in 901 | 99% | ||
Severe Combined Immunodeficiency, X-Linked |
IL2RG (NM_000206.2) | General population | 1 in 69000 | 1 in 6899901 | 99% |
Severe Combined Immunodeficiency, X-Linked |
IL2RG (NM_ 000206.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
Short-Rib Thoracic Dysplasia 3 with or without Polydactyly |
DYNC2H1 (NM_001080463.1) | General population | 1 in 67 | 1 in 6601 | 99% |
| East Asian | <1 in 500 | 1 in 49901 | 99% | ||
| Japanese | 1 in 297 | 1 in 29601 | 99% | ||
Shwachman-Diamond Syndrome, SBDS-Related |
SBDS (NM_016038.3) | General population | 1 in 145 | 1 in 14401 | 99% |
Sialidosis |
NEU1 (NM_000434.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Sjogren-Larsson Syndrome |
ALDH3A2 (NM_000382.2) | General population | < 1 in 500 | 1 in 9981 | >95% |
| Swedish | 1 in 205 | 1 in 4081 | >95% | ||
Sjogren-Larsson Syndrome |
ALDH3A2 (NM_ 000382.2) | Swedish | 1 in 205 | 1 in 4081 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Sjogren-Larsson Syndrome |
ALDH3A2 (NM_000382.2) | General population | 1 in 223 | 1 in 22201 | 99% |
| Swedish | 1 in 204 | 1 in 20301 | 99% | ||
Smith-Lemli-Opitz Syndrome |
DHCR7 (NM_001360.2) | African American | 1 in 93 | 1 in 1841 | >95% |
| Ashkenazi Jewish | 1 in 41 | 1 in 801 | >95% | ||
| Asian | < 1 in 500 | 1 in 9981 | >95% | ||
| Caucasian | 1 in 48 | 1 in 941 | >95% | ||
| General population | 1 in 68 | 1 in 1341 | >95% | ||
Smith-Lemli-Opitz Syndrome |
DHCR7 (NM_001360.2) | African American | 1 in 93 | 1 in 9201 | 99% |
| Ashkenazi Jewish | 1 in 36 | 1 in 3501 | 99% | ||
| Asian | < 1 in 500 | 1 in 49901 | 99% | ||
| Caucasian | 1 in 50 | 1 in 4901 | 99% | ||
| General population | 1 in 100 | 1 in 9901 | 99% | ||
Smith-Lemli-Opitz Syndrome |
DHCR7 (NM_ 001360.2) | African American | 1 in 93 | 1 in 1841 | >95% |
| Ashkenazi Jewish | 1 in 41 | 1 in 801 | >95% | ||
| Asian | < 1 in 500 | 1 in 9981 | >95% | ||
| Caucasian | 1 in 48 | 1 in 941 | >95% | ||
| General population | 1 in 68 | 1 in 1341 | >95% | ||
Spastic Ataxia of Charlevoix-Saguenay (ARSACS) |
SACS (NM_014363.5) | Caucasian | 1 in 450 | 1 in 8981 | >95% |
| French Canadian - Charlevoix-Saguenay | 1 in 21 | 1 in 401 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Spastic Paraplegia, Type 15 |
ZFYVE26 (NM_015346.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) |
SLC1A4 (NM_003038.4) | General population | <1 in 500 | 1 in 49901 | 99% |
Spg11-Related Conditions |
SPG11 (NM_025137.3) | General population | 1 in 141 | 1 in 14000 | 99% |
Spinal Muscular Atrophy |
SMN1 (NM_ 000344.3) | African American | 1 in 66 | 2 copies (snp absent) 1 in 396; 3 or more copies 1 in 3000 | > 71% |
| Ashkenazi Jewish | 1 in 41 | 2 copies (snp absent) 1 in 580; 3 or more copies 1 in 4000 | 94% | ||
| Asian | 1 in 53 | 2 copies (snp absent) 1 in 702; 3 or more copies 1 in 5000 | 93% | ||
| Caucasian | 1 in 35 | 2 copies (snp absent) 1 in 769; 3 or more copies 1 in 3500 | > 95% | ||
| Hispanic | 1 in 117 | 2 copies (snp absent) 1 in 1762; 3 or more copies 1 in 11000 | > 91% | ||
| General population | 1 in 54 | 1/589 (2 copy) | 91% | ||
Spinal Muscular Atrophy |
SMN1 (NM_000344.3) | African American | 1 in 66 | 2 copies (snp absent) 1 in 396; 3 or more copies 1 in 3000 | >71% |
| Ashkenazi Jewish | 1 in 41 | 2 copies (snp absent) 1 in 580; 3 or more copies 1 in 4000 | 94% | ||
| Asian | 1 in 53 | 2 copies (snp absent) 1 in 702; 3 or more copies 1 in 5000 | 93% | ||
| Caucasian | 1 in 35 | 2 copies (snp absent) 1 in 769; 3 or more copies 1 in 3500 | >95% | ||
| General population | 1 in 54 | 1 in 589 (2 copy) | 91% | ||
| Hispanic | 1 in 117 | 2 copies (snp absent) 1 in 1762; 3 or more copies 1 in 11000 | >91% | ||
Spinal Muscular Atrophy |
SMN1 (NM_000344.3) | African American | 1 in 66 | 2 copies (snp absent) 1 in 396; 3 or more copies 1 in 3000 | > 71% |
| Ashkenazi Jewish | 1 in 41 | 2 copies (snp absent) 1 in 580; 3 or more copies 1 in 4000 | 94% | ||
| Asian | 1 in 53 | 2 copies (snp absent) 1 in 702; 3 or more copies 1 in 5000 | 93% | ||
| Caucasian | 1 in 35 | 2 copies (snp absent) 1 in 769; 3 or more copies 1 in 3500 | > 95% | ||
| General population | 1 in 54 | 1/589 (2 copy) | 91% | ||
| Hispanic | 1 in 117 | 2 copies (snp absent) 1 in 1762; 3 or more copies 1 in 11000 | >91% | ||
Spinal Muscular Atrophy With Respiratory Distress Type 1 |
IGHMBP2 (NM_002180.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
ANO10 (NM_018075.5) | General population | 1 in 93 | 1 in 9201 | 99% |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
WWOX (NM_016373.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Spondylocostal Dysostosis 1 |
DLL3 (NM_016941.3) | General population | 1 in 289 | 1 in 28801 | 99% |
Spondylothoracic Dysostosis |
MESP2 (NM_001039958.1) | General population | 1 in 224 | 1 in 4461 | >95% |
| Puerto Rican | 1 in 55 | 1 in 1081 | >95% | ||
Spondylothoracic Dysostosis, MESP2-Related |
MESP2 (NM_ 001039958.1) | Puerto Rican | 1 in 55 | 1 in 1081 | >95% |
| General population | 1 in 224 | 1 in 4461 | >95% | ||
Spondylothoracic Dysostosis, MESP2-Related |
MESP2 (NM_001039958.1) | General population | 1 in 224 | 1 in 22301 | 99% |
| Puerto Rican | 1 in 55 | 1 in 5401 | 99% | ||
Steel Syndrome |
COL27A1 (NM_032888.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Steroid-Resistant Nephrotic Syndrome |
NPHS2 (NM_014625.3) | General population | 1 in 377 | 1 in 7521 | >95% |
Steroid-Resistant Nephrotic Syndrome |
NPHS2 (NM_014625.3) | General population | 1 in 377 | 1 in 37601 | 99% |
Steroid-Resistant Nephrotic Syndrome |
NPHS2 (NM_ 014625.3) | General population | 1 in 377 | 1 in 7521 | >95% |
Stuve-Wiedemann Syndrome |
LIFR (NM_ 002310.5) | General population | < 1 in 500 | 1 in 9981 | >95% |
Stuve-Wiedemann Syndrome |
LIFR (NM_002310.5) | General population | < 1 in 500 | 1 in 9981 | >95% |
Stuve-Wiedemann Syndrome |
LIFR (NM_002310.5) | General population | < 1 in 500 | 1 in 49901 | 99% |
Surf1-Related Conditions |
SURF1 (NM_003172.3) | General population | 1 in 316 | 1 in 31501 | 99% |
Surfactant Dysfunction, ABCA3-Related |
ABCA3 (NM_001089.2) | General population | 1 in 116 | 1 in 11501 | 99% |
| African American | 1 in 68 | 1 in 6701 | 99% | ||
| Caucasian | 1 in 28 | 1 in 2701 | 99% | ||
Tay-Sachs Disease |
HEXA (NM_000520.4) | African American | 1 in 271 | 1 in 5401 | >95% |
| Ashkenazi Jewish | 1 in 27 | 1 in 521 | >95% | ||
| Asian | 1 in 126 | 1 in 1390 | 91% | ||
| Caucasian | 1 in 182 | 1 in 3621 | >95% | ||
| French Canadian - Gaspesie | 1 in 13 | 1 in 241 | >95% | ||
| French Canadian - Other | 1 in 73 | 1 in 1441 | >95% | ||
| General population | 1 in 288 | 1 in 5741 | >95% | ||
| Irish | 1 in 41 | 1 in 801 | >95% | ||
| Sephardic Jewish - Moroccan, Iraqi | 1 in 125 | 1 in 2481 | >95% | ||
Tay-Sachs Disease |
HEXA (NM_ 000520.4) | African American | 1 in 271 | 1 in 5401 | >95% |
| Ashkenazi Jewish | 1 in 27 | 1 in 521 | >95% | ||
| Asian | 1 in 126 | 1 in 1390 | 91% | ||
| Caucasian | 1 in 182 | 1 in 3621 | >95% | ||
| French Canadian - Gaspesie | 1 in 13 | 1 in 241 | >95% | ||
| French Canadian - Other | 1 in 73 | 1 in 1441 | >95% | ||
| Irish | 1 in 41 | 1 in 801 | >95% | ||
| Sephardic Jewish - Moroccan, Iraqi | 1 in 125 | 1 in 2481 | >95% | ||
| General population | 1 in 288 | 1 in 5741 | >95% | ||
Tay-Sachs Disease (DNA only) |
HEXA (NM_000520.5) | African American | 1 in 271 | 1 in 27001 | 99% |
| Ashkenazi Jewish | 1 in 27 | 1 in 2601 | 99% | ||
| Asian | 1 in 126 | 1 in 12501 | 99% | ||
| Caucasian | 1 in 182 | 1 in 18101 | 99% | ||
| French Canadian - Gaspesie | 1 in 13 | 1 in 1201 | 99% | ||
| French Canadian - Other | 1 in 73 | 1 in 7201 | 99% | ||
| General population | 1 in 250 | 1 in 24901 | 99% | ||
| Irish | 1 in 41 | 1 in 4001 | 99% | ||
| Sephardic Jewish - Moroccan, Iraqi | 1 in 125 | 1 in 12401 | 99% | ||
| Old Order Amish | 1 in 3.4 | 1 in 241 | 99% | ||
Tbce-Related Conditions |
TBCE (NM_003193.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
SLC19A2 (NM_006996.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Thyroid Dyshormonogenesis 1 |
SLC5A5 (NM_000453.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Thyroid Dyshormonogenesis 2A |
TPO (NM_000547.5) | General population | 1 in 227 | 1 in 22601 | 99% |
Thyroid Dyshormonogenesis 3 |
TG (NM_003235.4) | General population | 1 in 217 | 1 in 21601 | 99% |
Thyroid Dyshormonogenesis 6 |
DUOX2 (NM_014080.4) | General population | 1 in 55 | 1 in 1081 | 95% |
Transcobalamin Ii Deficiency |
TCN2 (NM_000355.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Trichohepatoenteric Syndrome, SKIC2-Related |
SKIC2 (NM_006929.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Trichohepatoenteric Syndrome, TTC37-Related |
TTC37 (NM_014639.3) | General population | 1 in 381 | 1 in 38001 | 99% |
Trichothiodystrophy 1 / Xeroderma Pigmentosum, Group D |
ERCC2 (NM_000400.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Trimethylaminuria |
FMO3 (NM_006894.5) | General population | 1 in 139 | 1 in 13801 | 99% |
| Northern European Caucasian | 1 in 100 | 1 in 9901 | 99% | ||
Triple A Syndrome |
AAAS (NM_015665.5) | General population | <1 in 500 | 1 in 49901 | 99% |
Tshr-Related Conditions |
TSHR (NM_000369.2) | General population | 1 in 322 | 1 in 32101 | 99% |
| Japanese | 1 in 172 | 1 in 17101 | 99% | ||
Tyrosine Hydroxylase Deficiency |
TH (NM_000360.3) | Asian | 1 in 416 | 1 in 8301 | >95% |
| Caucasian | 1 in 224 | 1 in 4461 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Tyrosinemia Type Iii |
HPD (NM_002150.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Tyrosinemia, Type 1 |
FAH (NM_ 000137.2) | African American | 1 in 478 | 1 in 9541 | >95% |
| Ashkenazi Jewish | 1 in 143 | 1 in 2841 | >95% | ||
| Asian | < 1 in 500 | 1 in 9981 | >95% | ||
| Caucasian | 1 in 333 | 1 in 6641 | >95% | ||
| French Canadian - Saguenay Lac-St. Jean | 1 in 25 | 1 in 481 | >95% | ||
| French Canadian | 1 in 66 | 1 in 1301 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Tyrosinemia, Type 1 |
FAH (NM_000137.2) | African American | 1 in 478 | 1 in 47701 | 99% |
| Ashkenazi Jewish | 1 in 150 | 1 in 14901 | 99% | ||
| Asian | < 1 in 500 | 1 in 49901 | 99% | ||
| Caucasian | 1 in 333 | 1 in 33201 | 99% | ||
| French Canadian - Saguenay Lac-St. Jean | 1 in 25 | 1 in 2401 | 99% | ||
| General population | 1 in 100 | 1 in 9901 | 99% | ||
| French Canadian (Quebec) | 1 in 66 | 1 in 6501 | 99% | ||
Tyrosinemia, Type 2 |
TAT (NM_000353.2) | General population | <1 in 500 | 1 in 49901 | 99% |
Tyrosinemia, Type I |
FAH (NM_000137.2) | African American | 1 in 478 | 1 in 9541 | >95% |
| Ashkenazi Jewish | 1 in 143 | 1 in 2841 | >95% | ||
| Asian | < 1 in 500 | 1 in 9981 | >95% | ||
| Caucasian | 1 in 333 | 1 in 6641 | >95% | ||
| French Canadian | 1 in 66 | 1 in 1301 | >95% | ||
| French Canadian - Saguenay Lac-St. Jean | 1 in 25 | 1 in 481 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Usher Syndrome, Type 1B |
MYO7A (NM_000260.3) | African American | < 1 in 500 | 1 in 9981 | >95% |
| Asian | 1 in 62 | 1 in 1221 | >95% | ||
| Caucasian | 1 in 145 | 1 in 2058 | 93% | ||
| General population | 1 in 206 | 1 in 4101 | >95% | ||
Usher Syndrome, Type 1B |
MYO7A (NM_000260.3) | African American | < 1 in 500 | 1 in 49901 | 99% |
| Asian | 1 in 62 | 1 in 6101 | 99% | ||
| Caucasian | 1 in 145 | 1 in 14401 | 99% | ||
| General population | 1 in 206 | 1 in 20501 | 99% | ||
Usher Syndrome, Type 1B |
MYO7A (NM_ 000260.3) | African American | < 1 in 500 | 1 in 9981 | >95% |
| Asian | 1 in 62 | 1 in 1221 | >95% | ||
| Caucasian | 1 in 145 | 1 in 2058 | 93% | ||
| General population | 1 in 206 | 1 in 4101 | >95% | ||
Usher Syndrome, Type 1C |
USH1C (NM_ 005709.3) | French Canadian / Acadian | 1 in 227 | 1 in 4521 | >95% |
| General population | 1 in 353 | 1 in 7041 | >95% | ||
Usher Syndrome, Type 1C |
USH1C (NM_005709.3) | French Canadian / Acadian | 1 in 227 | 1 in 22601 | 99% |
| General population | 1 in 353 | 1 in 35201 | 99% | ||
Usher Syndrome, Type 1D |
CDH23 (NM_022124.5) | General population | 1 in 202 | 1 in 20101 | 99% |
Usher Syndrome, Type 1D |
CDH23 (NM_022124.5) | General population | 1 in 306 | 1 in 6101 | >95% |
Usher Syndrome, Type 1D |
CDH23 (NM_ 022124.5) | General population | 1 in 306 | 1 in 6101 | >95% |
Usher Syndrome, Type 1F |
PCDH15 (NM_ 001142764.1) | Ashkenazi Jewish | 1 in 78 | 1 in 1541 | >95% |
| General population | 1 in 395 | 1 in 4926 | 92% | ||
Usher Syndrome, Type 1F |
PCDH15 (NM_033056.3) | General population | 1 in 395 | 1 in 39401 | 99% |
Usher Syndrome, Type 1F |
PCDH15 (NM_001142764.1) | Ashkenazi Jewish | 1 in 78 | 1 in 1541 | >95% |
| General population | 1 in 395 | 1 in 692 | 43% | ||
Usher Syndrome, Type 1F |
PCDH15 (NM_033056.3) | Ashkenazi Jewish | 1 in 78 | 1 in 7701 | 99% |
Usher Syndrome, Type 1J / Deafness, Autosomal Recessive, 48 |
CIB2 (NM_006383.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Usher Syndrome, Type 2A |
USH2A (NM_ 206933.2) | Caucasian | 1 in 73 | 1 in 601 | 88% |
| Sephardic Jewish - Iraqi, Iranian | 1 in 36 | 1 in 141 | 75% | ||
| General population | 1 in 126 | 1 in 2501 | >95% | ||
Usher Syndrome, Type 2A |
USH2A (NM_206933.2) | Caucasian | 1 in 73 | 1 in 7201 | 99% |
| General population | 1 in 126 | 1 in 12501 | 99% | ||
| Sephardic Jewish - Iraqi, Iranian | 1 in 36 | 1 in 3501 | 99% | ||
| French Canadian | 1 in 207 | 1 in 20601 | 99% | ||
| East Asian | 1 in 113 | 1 in 11201 | 99% | ||
Usher Syndrome, Type 2C |
ADGRV1 (NM_032119.3) | General population | 1 in 176 | 1 in 17501 | 99% |
Usher Syndrome, Type 3 |
CLRN1 (NM_174878.2) | Ashkenazi Jewish | 1 in 120 | 1 in 11901 | 99% |
| Finnish | 1 in 70 | 1 in 6901 | 99% | ||
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Usher Syndrome, Type 3 |
CLRN1 (NM_ 174878.2) | Ashkenazi Jewish | 1 in 120 | 1 in 2381 | >95% |
| Finnish | 1 in 70 | 1 in 1381 | >95% | ||
| General population | 1 in 500 | 1 in 9981 | >95% | ||
Usher Syndrome, Type IC |
USH1C (NM_005709.3) | French Canadian / Acadian | 1 in 227 | 1 in 4521 | >95% |
| General population | 1 in 353 | 1 in 7041 | >95% | ||
Usher Syndrome, Type IIA |
USH2A (NM_206933.2) | Caucasian | 1 in 73 | 1 in 601 | 88% |
| General population | 1 in 126 | 1 in 2501 | >95% | ||
| Sephardic Jewish - Iraqi, Iranian | 1 in 36 | 1 in 141 | 75% | ||
Usher Syndrome, Type III |
CLRN1 (NM_174878.2) | Ashkenazi Jewish | 1 in 120 | 1 in 2381 | >95% |
| Finnish | 1 in 70 | 1 in 1381 | >95% | ||
| General population | 1 in 500 | 1 in 9981 | >95% | ||
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency |
ACADVL (NM_000018.3) | Asian | 1 in 194 | 1 in 2758 | 93% |
| Caucasian | 1 in 88 | 1 in 1741 | >95% | ||
| General population | 1 in 146 | 1 in 2901 | >95% | ||
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency |
ACADVL (NM_ 000018.3) | Asian | 1 in 194 | 1 in 2758 | 93% |
| Caucasian | 1 in 88 | 1 in 1741 | >95% | ||
| General population | 1 in 146 | 1 in 2901 | >95% | ||
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency |
ACADVL (NM_000018.3) | Asian | 1 in 194 | 1 in 19301 | 99% |
| Caucasian | 1 in 88 | 1 in 8701 | 99% | ||
| General population | 1 in 86 | 1 in 8501 | 99% | ||
Vici Syndrome |
EPG5 (NM_020964.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Vitamin D Dependent Rickets, Type 1A |
CYP27B1 (NM_000785.3) | General population | 1 in 22 | 1 in 2101 | 99% |
Vitamin D-Resistant Rickets Type 2A |
VDR (NM_001017535.1) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Vldlr-Associated Cerebellar Hypoplasia |
VLDLR (NM_003383.4) | General population | ≤1 in 500 | 1 in 49901 | 99% |
| Hutterite | 1 in 15 | 1 in 1401 | 99% | ||
Walker-Warburg Syndrome, CRPPA-Related |
ISPD (NM_001101426.3) | General population | 1 in 371 | 1 in 37001 | 99% |
Walker-Warburg Syndrome, FKTN-Related |
FKTN (NM_001079802.1) | Ashkenazi Jewish | 1 in 80 | 1 in 1581 | >95% |
| General population | < 1 in 500 | 1 in 625 | 20% | ||
| Japanese | 1 in 188 | 1 in 198 | 5% | ||
Walker-Warburg Syndrome, FKTN-Related |
FKTN (NM_001079802.1) | Ashkenazi Jewish | 1 in 150 | 1 in 14901 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Walker-Warburg Syndrome, FKTN-Related |
FKTN (NM_ 001079802.1) | Ashkenazi Jewish | 1 in 80 | 1 in 1581 | >95% |
| Japanese | 1 in 188 | 1 in 198 | 5% | ||
| General population | < 1 in 500 | 1 in 625 | 20% | ||
Walker-Warburg Syndrome, LARGE1-Related |
LARGE1 (NM_004737.5) | General population | < 1 in 500 | 1 in 49901 | 99% |
Walker-Warburg Syndrome, POMT1-Related |
POMT1 (NM_007171.3) | General population | 1 in 275 | 1 in 27401 | 99% |
Walker-Warburg Syndrome, POMT2-Related |
POMT2 (NM_013382.5) | General population | 1 in 465 | 1 in 46401 | 99% |
Warsaw Breakage Syndrome |
DDX11 (NM_030653.3) | General population | ≤1 in 500 | 1 in 588 | 15% |
Werner Syndrome |
WRN (NM_000553.5) | General population | 1 in 224 | 1 in 22301 | 99% |
Wilson Disease |
ATP7B (NM_000053.3) | Ashkenazi Jewish | 1 in 67 | 1 in 1321 | >95% |
| Asian | 1 in 50 | 1 in 981 | >95% | ||
| Canary Islands | 1 in 25 | 1 in 481 | >95% | ||
| Caucasian | 1 in 90 | 1 in 1781 | >95% | ||
| General population | 1 in 90 | 1 in 1781 | >95% | ||
| Sardinian | 1 in 42 | 1 in 821 | >95% | ||
| Sephardic Jewish - North African, Iraqi, Yemenite, Iranian, Bukharian | 1 in 65 | 1 in 1281 | >95% | ||
Wilson Disease |
ATP7B (NM_000053.3) | Ashkenazi Jewish | 1 in 67 | 1 in 1321 | >95% |
| Asian | 1 in 50 | 1 in 981 | >95% | ||
| Canary Islands | 1 in 25 | 1 in 481 | >95% | ||
| Caucasian | 1 in 90 | 1 in 1781 | >95% | ||
| Sardinian | 1 in 42 | 1 in 821 | >95% | ||
| Sephardic Jewish - North African, Iraqi, Yemenite, Iranian, Bukharian | 1 in 65 | 1 in 1281 | >95% | ||
| General population | 1 in 90 | 1 in 1781 | >95% | ||
Wilson Disease |
ATP7B (NM_000053.3) | Ashkenazi Jewish | 1 in 70 | 1 in 6901 | 99% |
| Canary Islands | 1 in 25 | 1 in 2401 | 99% | ||
| Caucasian | 1 in 90 | 1 in 8901 | 99% | ||
| East Asian | 1 in 27 | 1 in 2601 | 99% | ||
| General population | 1 in 90 | 1 in 8901 | 99% | ||
| Sardinian | 1 in 42 | 1 in 4101 | 99% | ||
| Sephardic Jewish - North African, Iraqi, Yemenite, Iranian, Bukharian | 1 in 65 | 1 in 6401 | 99% | ||
Wiskott-Aldrich Syndrome |
WAS (NM_000377.2) | General population | 1 in 187500 | 1 in 18749901 | 99% |
Wolcott-Rallison Syndrome |
EIF2AK3 (NM_004836.6) | General population | <1 in 500 | 1 in 49901 | 99% |
Wolman Disease |
LIPA (NM_000235.3) | Ashkenazi Jewish | < 1 in 500 | 1 in 49901 | 99% |
| Caucasian | 1 in 145 | 1 in 14401 | 99% | ||
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
| Sephardic Jewish - Iranian | 1 in 26 | 1 in 2501 | 99% | ||
Wolman Disease |
LIPA (NM_ 000235.3) | Ashkenazi Jewish | < 1 in 500 | 1 in 9981 | >95% |
| Caucasian | 1 in 145 | 1 in 2881 | >95% | ||
| Sephardic Jewish - Iranian | 1 in 26 | 1 in 501 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Woodhouse-Sakati Syndrome |
DCAF17 (NM_025000.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
X-Linked Chondrodysplasia Punctata 1 |
ARSL (NM_000047.2) | General population | 1 in 375000 | 1 in 37499901 | 99% |
X-Linked Lissencephaly with Abnormal Genitalia |
ARX (NM_139058.2) | General population | 1 in 750000 | 1 in 1499999 | 50% |
Xeroderma Pigmentosum Variant Type |
POLH (NM_006502.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Xeroderma Pigmentosum, Group A |
XPA (NM_000380.3) | General population | <1 in 500 | 1 in 49901 | 99% |
Xeroderma Pigmentosum, Group C |
XPC (NM_004628.4) | General population | <1 in 500 | 1 in 49901 | 99% |
Zellweger Spectrum Disorder, Pex13-Related |
PEX13 (NM_002618.3) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Zellweger Spectrum Disorder, Pex16-Related |
PEX16 (NM_004813.2) | General population | ≤1 in 500 | 1 in 49901 | 99% |
Zellweger Spectrum Disorder, Pex5-Related |
PEX5 (NM_001131025.1) | General population | 1 in 408 | 1 in 40701 | 99% |
Zellweger Spectrum Disorders, PEX1-Related |
PEX1 (NM_000466.3) | Caucasian | 1 in 147 | 1 in 2921 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Zellweger Spectrum Disorders, PEX1-Related |
PEX1 (NM_000466.2) | Caucasian | 1 in 147 | 1 in 2921 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Zellweger Spectrum Disorders, PEX1-Related |
PEX1 (NM_000466.2) | Caucasian | 1 in 147 | 1 in 14601 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Zellweger Spectrum Disorders, PEX10-Related |
PEX10 (NM_153818.1) | Asian | < 1 in 500 | 1 in 49901 | 99% |
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Zellweger Spectrum Disorders, PEX10-Related |
PEX10 (NM_ 153818.1) | Asian | < 1 in 500 | 1 in 9981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Zellweger Spectrum Disorders, PEX10-Related |
PEX10 (NM_153818.1) | Asian | < 1 in 500 | 1 in 9981 | >95% |
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Zellweger Spectrum Disorders, PEX12-Related |
PEX12 (NM_000286.2) | General population | 1 in 406 | 1 in 40501 | 99% |
Zellweger Spectrum Disorders, PEX2-Related |
PEX2 (NM_001079867.1) | Ashkenazi Jewish | 1 in 227 | 1 in 4521 | >95% |
| Caucasian | < 1 in 500 | 1 in 9981 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Zellweger Spectrum Disorders, PEX2-Related |
PEX2 (NM_000318.2) | Ashkenazi Jewish | 1 in 227 | 1 in 22601 | 99% |
| Caucasian | < 1 in 500 | 1 in 49901 | 99% | ||
| General population | < 1 in 500 | 1 in 49901 | 99% | ||
Zellweger Spectrum Disorders, PEX2-Related |
PEX2 (NM_ 001079867.1) | Ashkenazi Jewish | 1 in 227 | 1 in 4521 | >95% |
| Caucasian | < 1 in 500 | 1 in 9981 | >95% | ||
| General population | < 1 in 500 | 1 in 9981 | >95% | ||
Zellweger Spectrum Disorders, PEX26-Related |
PEX26 (NM_017929.5) | General population | <1 in 500 | 1 in 49901 | 99% |
Zellweger Spectrum Disorders, PEX6-Related |
PEX6 (NM_000287.3) | French Canadian | 1 in 55 | 1 in 1081 | >95% |
| General population | 1 in 280 | 1 in 5581 | >95% | ||
| Sephardic Jewish - Yemenite | 1 in 18 | 1 in 341 | >95% | ||
Zellweger Spectrum Disorders, PEX6-Related |
PEX6 (NM_000287.3) | French Canadian | 1 in 55 | 1 in 5401 | 99% |
| General population | 1 in 280 | 1 in 27901 | 99% | ||
| Sephardic Jewish - Yemenite | 1 in 18 | 1 in 1701 | 99% | ||
Zellweger Spectrum Disorders, PEX6-Related |
PEX6 (NM_ 000287.3) | French Canadian | 1 in 55 | 1 in 1081 | >95% |
| Sephardic Jewish - Yemenite | 1 in 18 | 1 in 341 | >95% | ||
| General population | 1 in 280 | 1 in 5581 | >95% |
Please note these tests were developed and their performance characteristics were determined by Baylor Miraca Genetics Laboratories, 2450 Holcombe Blvd, Ste O100, Houston, TX 77021 (CLIA ID number 45D0660090). A portion of the technical component of these tests may have been performed at 106 East Sixth Street, Suite 934, Austin, TX 78701 (CLIA ID number 45D2093704). They have not been cleared or approved by the FDA. These analyses generally provide highly accurate information regarding the patient’s carrier status. Despite this high level of accuracy, it should be kept in mind that there are many potential sources of diagnostic error, including misidentification of samples, polymorphisms, or other rare genetic variants that interfere with analysis. Families should understand that rare diagnostic errors may occur for these reasons.
¹footnote #1
²footnote #2
1some additional info here
2some more details here, too