Gene Validity Curations

Gene Validity Curations

Curation Count: 1082 | Download Summary
Gene Disease curated MOI GCEP SOP Classification Released
A2ML1 Noonan syndrome with multiple lentigines AD RASopathy SOP5 No Reported Evidence 06/07/2018
A2ML1 cardiofaciocutaneous syndrome AD RASopathy SOP5 No Reported Evidence 06/07/2018
A2ML1 Costello syndrome AD RASopathy SOP5 No Reported Evidence 06/07/2018
A2ML1 Noonan syndrome AD RASopathy SOP5 Disputed 06/07/2018
A2ML1 Noonan syndrome-like disorder with loose anagen hair AD RASopathy SOP5 No Reported Evidence 06/07/2018
AARS undetermined early-onset epileptic encephalopathy AR Epilepsy SOP6 Limited 11/20/2018
AASS hyperlysinemia (disease) AR Aminoacidopathy SOP7 Moderate 06/29/2020
ABCD1 X-linked cerebral adrenoleukodystrophy XL Intellectual Disability and Autism SOP4 Definitive 02/07/2018
ABCG5 sitosterolemia AR Hemostasis Thrombosis SOP7 Definitive 07/10/2020
ABCG8 sitosterolemia AR Hemostasis Thrombosis SOP7 Definitive 07/14/2020
ABHD12 PHARC syndrome AR Hearing Loss SOP5 Definitive 06/28/2018
ACAD8 isobutyryl-CoA dehydrogenase deficiency AR Aminoacidopathy SOP6 Definitive 04/26/2019
ACAD9 acyl-CoA dehydrogenase 9 deficiency AR Fatty Acid Oxidation Disorders EP SOP6 Definitive 03/27/2018
ACADL long chain acyl-CoA dehydrogenase deficiency AR Fatty Acid Oxidation Disorders EP SOP6 Disputed 09/25/2018
ACADM medium chain acyl-CoA dehydrogenase deficiency AR Fatty Acid Oxidation Disorders EP SOP6 Definitive 01/23/2018
ACADS short chain acyl-CoA dehydrogenase deficiency AR Fatty Acid Oxidation Disorders EP SOP6 Definitive 01/23/2018
ACADSB 2-methylbutyryl-CoA dehydrogenase deficiency AR Aminoacidopathy SOP6 Definitive 03/22/2019
ACADVL very long chain acyl-CoA dehydrogenase deficiency AR Fatty Acid Oxidation Disorders EP SOP6 Definitive 02/20/2018
ACAT1 beta-ketothiolase deficiency AR Fatty Acid Oxidation Disorders EP SOP6 Definitive 05/22/2018
ACSL4 non-syndromic X-linked intellectual disability XL Intellectual Disability and Autism SOP4 Moderate 10/20/2017
ACTA1 hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP7 No Reported Evidence 05/01/2020
ACTA2 familial thoracic aortic aneurysm and aortic dissection AD Familial Thoracic Aortic Aneurysm and Dissection SOP4 Definitive 09/27/2016
ACTC1 hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP4 Definitive 10/23/2017
ACTC1 dilated cardiomyopathy AD Dilated Cardiomyopathy SOP7 Moderate 08/12/2020
ACTC1 arrhythmogenic right ventricular cardiomyopathy AD Arrythmogenic Right Ventricular Cardiomyopathy SOP7 No Reported Evidence 03/15/2019
ACTG1 nonsyndromic genetic deafness AD Hearing Loss SOP6 Definitive 01/07/2019
ACTG1 Baraitser-winter syndrome 2 AD Hearing Loss SOP6 Definitive 01/07/2019
ACTN2 intrinsic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP5 Moderate 08/06/2018
ACVRL1 telangiectasia, hereditary hemorrhagic, type 2 AD Hemostasis Thrombosis SOP6 Definitive 08/28/2019
ADAMTS13 congenital thrombotic thrombocytopenic purpura AR Hemostasis Thrombosis SOP7 Definitive 03/25/2020
ADAR Leigh syndrome AR Mitochondrial Diseases SOP7 Limited 08/27/2020
ADCY1 autosomal recessive nonsyndromic deafness AR Hearing Loss SOP4 Limited 05/10/2017
ADGRV1 nonsyndromic genetic deafness AR Hearing Loss SOP6 Disputed 03/19/2019
ADGRV1 Usher syndrome type 2 AR Hearing Loss SOP7 Definitive 02/15/2017
ADNP ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder AD Intellectual Disability and Autism SOP7 Definitive 04/24/2020
AFF2 FRAXE intellectual disability XL Intellectual Disability and Autism SOP4 Definitive 10/20/2017
AGPS rhizomelic chondrodysplasia punctata AR Peroxisomal Disorders SOP6 Definitive 10/04/2019
AHCY hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase AR Aminoacidopathy SOP7 Moderate 06/29/2020
AIFM1 X-linked hereditary sensory and autonomic neuropathy with deafness XL Hearing Loss SOP6 Definitive 07/09/2018
AKAP9 long QT syndrome AD General Gene Curation SOP4 Limited 12/15/2016
ALDH4A1 hyperprolinemia type 2 AR Aminoacidopathy SOP6 Moderate 09/13/2019
ALDH6A1 developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency AR Aminoacidopathy SOP6 Limited 09/27/2019
ALDH7A1 pyridoxine-dependent epilepsy AR Aminoacidopathy SOP7 Definitive 07/26/2019
ALG13 undetermined early-onset epileptic encephalopathy XL Epilepsy SOP5 Definitive 04/26/2018
ALG8 isolated polycystic liver disease AD Cystic/Tubulointerstitial SOP7 Limited 07/29/2020
ALG9 cystic kidney disease AD Cystic/Tubulointerstitial SOP7 Moderate 08/28/2020
ALK neuroblastoma, susceptibility to, 3 AD Hereditary Cancer SOP6 Definitive 11/21/2019
ALMS1 Alstrom syndrome AR Hearing Loss SOP4 Definitive 02/10/2017
ALPK3 hypertrophic cardiomyopathy AR Hypertrophic Cardiomyopathy SOP4 Strong 02/07/2017
AMT glycine encephalopathy AR Aminoacidopathy SOP7 Definitive 05/24/2019
ANK2 Brugada syndrome AD Brugada Syndrome SOP4 Disputed 11/21/2017
ANKRD1 dilated cardiomyopathy AD Dilated Cardiomyopathy SOP7 Limited 08/12/2020
ANKRD1 hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP7 Limited 05/01/2020
ANKRD11 KBG syndrome AD Intellectual Disability and Autism SOP6 Definitive 11/26/2019
ANKRD26 thrombocytopenia 2 AD Hemostasis Thrombosis SOP6 Definitive 09/25/2019
ANO5 autosomal recessive limb-girdle muscular dystrophy AR Limb Girdle Muscular Dystrophy SOP7 Definitive 09/09/2020
ANO6 Scott syndrome AR Hemostasis Thrombosis SOP7 Moderate 05/27/2020
AP1S2 non-syndromic X-linked intellectual disability XL Intellectual Disability and Autism SOP4 Definitive 10/20/2017
AP3B1 Hermansky-Pudlak syndrome 2 AR Hemostasis Thrombosis SOP7 Definitive 02/26/2020
AP3D1 Hermansky-Pudlak syndrome 10; HPS10 AR Hemostasis Thrombosis SOP7 Limited 02/26/2020
APC APC-related attenuated familial adenomatous polyposis AD Colon Cancer SOP4 Definitive 09/11/2017
APOB hypercholesterolemia, autosomal dominant, type b AD General Gene Curation SOP7 Definitive 11/14/2018
AQP5 palmoplantar keratoderma, Bothnian type AD UNC Biocuration Core SOP5 Moderate 07/06/2018
ARG1 hyperargininemia AR Aminoacidopathy SOP7 Definitive 06/29/2020
ARHGEF6 non-syndromic X-linked intellectual disability XL Intellectual Disability and Autism SOP5 Limited 06/28/2018
ARHGEF6 non-syndromic X-linked intellectual disability XL Harvard/Geisinger Biocuration Core SOP6 Limited 05/17/2018
ARHGEF9 complex neurodevelopmental disorder XL Intellectual Disability and Autism SOP6 Moderate 11/21/2019
ARID1B Coffin-Siris syndrome AD Intellectual Disability and Autism SOP6 Definitive 12/04/2019
ARL13B Joubert syndrome AR Syndromic Disorders SOP7 Definitive 06/03/2020
ARL2BP retinitis pigmentosa with or without situs inversus AR UNC Biocuration Core SOP5 Limited 07/06/2018
ARPC1B platelet abnormalities with eosinophilia and immune-mediated inflammatory disease AR Hemostasis Thrombosis SOP7 Definitive 07/22/2020
ARX early infantile epileptic encephalopathy XL Epilepsy SOP6 Definitive 06/21/2019
ASL argininosuccinic aciduria AR Aminoacidopathy SOP7 Definitive 09/15/2018
ASNS congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome AR Aminoacidopathy SOP7 Definitive 06/29/2020
ASS1 citrullinemia type I AR Aminoacidopathy SOP7 Definitive 12/27/2018
ATF6 achromatopsia AR General Gene Curation SOP4 Strong 11/16/2016
ATM hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 Definitive 07/12/2017
ATM hereditary nonpolyposis colon cancer AD Colon Cancer SOP4 Moderate 08/28/2017
ATM familial ovarian cancer AD Breast/Ovarian Cancer SOP4 Limited 07/12/2017
ATM ataxia telangiectasia AR Hereditary Cancer SOP7 Definitive 07/30/2020
ATP5MD Leigh syndrome AR Mitochondrial Diseases SOP7 Moderate 08/27/2020
ATP6V1B1 renal tubular acidosis, distal, with progressive nerve deafness AR Hearing Loss SOP6 Definitive 12/19/2017
ATP7A Menkes disease XLR Intellectual Disability and Autism SOP4 Definitive 02/07/2018
ATP7B Wilson disease AR General Gene Curation SOP6 Definitive 03/27/2019
ATRX X-linked intellectual disability-hypotonic face syndrome XL Intellectual Disability and Autism SOP4 Definitive 02/07/2018
AUH 3-methylglutaconic aciduria type 1 AR Aminoacidopathy SOP7 Definitive 06/29/2020
AUTS2 syndromic intellectual disability AD Intellectual Disability and Autism SOP7 Definitive 09/01/2020
AXIN2 oligodontia-cancer predisposition syndrome AD Colon Cancer SOP4 Moderate 06/08/2017
BAG3 myofibrillar myopathy (disease) AD General Gene Curation SOP4 Definitive 12/18/2016
BAP1 BAP1-related tumor predisposition syndrome AD Hereditary Cancer SOP6 Definitive 03/21/2019
BARD1 hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 Definitive 08/09/2017
BARD1 hereditary nonpolyposis colon cancer AD Colon Cancer SOP4 Limited 06/08/2017
BARD1 familial ovarian cancer AD Breast/Ovarian Cancer SOP4 Limited 08/09/2017
BCAT2 hypervalinemia and hyperleucine-isoleucinemia AR Aminoacidopathy SOP7 Definitive 07/24/2020
BCKDHA maple syrup urine disease type 1A AR Aminoacidopathy SOP6 Definitive 09/14/2018
BCKDHB maple syrup urine disease type 1B AR Aminoacidopathy SOP6 Definitive 02/08/2019
BCKDK branched-chain keto acid dehydrogenase kinase deficiency AR Aminoacidopathy SOP7 Definitive 01/18/2019
BCL11A Dias-Logan syndrome; DILOS AD Intellectual Disability and Autism SOP7 Definitive 09/13/2020
BCS1L Bjornstad syndrome AR Hearing Loss SOP6 Definitive 07/09/2018
BCS1L Leigh syndrome AR Mitochondrial Diseases SOP6 Limited 09/19/2019
BDP1 nonsyndromic genetic deafness AR Hearing Loss SOP6 Limited 09/11/2017
BGN familial thoracic aortic aneurysm and aortic dissection AD Familial Thoracic Aortic Aneurysm and Dissection SOP4 Limited 12/22/2016
BIN1 centronuclear myopathy SD Congenital Myopathies SOP7 Definitive 04/27/2020
BIN1 myopathy, centronuclear, 2 AR Congenital Myopathies SOP7 Definitive 06/26/2020
BLK monogenic diabetes AD Monogenic Diabetes SOP7 Refuted 08/21/2020
BLM Bloom syndrome AR Hereditary Cancer SOP6 Definitive 04/19/2019
BMPR1A generalized juvenile polyposis/juvenile polyposis coli AD Colon Cancer SOP4 Definitive 06/12/2017
BRAF Noonan syndrome AD RASopathy SOP5 Moderate 07/24/2018
BRAF cardiofaciocutaneous syndrome AD RASopathy SOP5 Definitive 07/24/2018
BRAF Costello syndrome AD RASopathy SOP5 Disputed 07/24/2018
BRAF Noonan syndrome with multiple lentigines AD RASopathy SOP5 Limited 07/24/2018
BRAF Noonan syndrome-like disorder with loose anagen hair AD RASopathy SOP5 No Reported Evidence 07/25/2018
BRCA1 breast-ovarian cancer, familial, susceptibility to, 1 AD Breast/Ovarian Cancer SOP4 Definitive 09/13/2017
BRCA1 Fanconi anemia, complementation group S AR Hereditary Cancer SOP7 Definitive 05/14/2020
BRCA2 breast-ovarian cancer, familial, susceptibility to, 2 AD Breast/Ovarian Cancer SOP4 Definitive 09/13/2017
BRCA2 Fanconi anemia complementation group D1 AR Hereditary Cancer SOP6 Definitive 04/19/2019
BRIP1 hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 Refuted 05/10/2017
BRIP1 familial ovarian cancer AD Breast/Ovarian Cancer SOP4 Definitive 10/12/2016
BRIP1 Fanconi anemia complementation group j AR Hereditary Cancer SOP6 Definitive 08/18/2019
BRWD3 X-linked syndromic intellectual disability XL Intellectual Disability and Autism SOP5 Definitive 09/20/2018
BSND Bartter disease type 4a AR Hearing Loss SOP5 Definitive 07/12/2018
BTD biotinidase deficiency AR Hearing Loss SOP7 Definitive 02/10/2020
BUB1B mosaic variegated aneuploidy syndrome 1 AR Hereditary Cancer SOP6 Definitive 11/22/2019
C1QB C1Q deficiency AR General Gene Curation SOP4 Definitive 01/09/2017
CA5A hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency AR Aminoacidopathy SOP7 Definitive 09/10/2018
CABP2 nonsyndromic genetic deafness AR Hearing Loss SOP7 Definitive 02/06/2020
CACNA1C Brugada syndrome AD Brugada Syndrome SOP4 Disputed 11/21/2017
CACNA1C long QT syndrome AD Long QT Syndrome SOP7 Moderate 04/24/2020
CACNA1D sinoatrial node dysfunction and deafness AR Hearing Loss SOP6 Moderate 05/01/2018
CACNA1H generalised epilepsy AD Epilepsy SOP5 Disputed 07/31/2018
CACNA2D1 Brugada syndrome 1 AD Brugada Syndrome SOP4 Disputed 11/21/2017
CACNB2 Brugada syndrome 1 AD Brugada Syndrome SOP4 Disputed 11/21/2017
CACNB2 hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP7 No Reported Evidence 04/07/2020
CACNB4 epilepsy AD Epilepsy SOP5 Disputed 06/22/2018
CALR3 hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP5 Limited 08/06/2018
CASK X-linked syndromic intellectual disability XL Intellectual Disability and Autism SOP6 Definitive 07/09/2019
CASQ2 hypertrophic cardiomyopathy AR Hypertrophic Cardiomyopathy SOP4 No Reported Evidence 01/17/2017
CASQ2 hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP7 No Reported Evidence 05/01/2020
CBL Noonan syndrome-like disorder with juvenile myelomonocytic leukemia AD RASopathy SOP7 Definitive 04/29/2019
CBS classic homocystinuria AR Aminoacidopathy SOP7 Definitive 04/12/2019
CC2D1A complex neurodevelopmental disorder AR Intellectual Disability and Autism SOP6 Definitive 01/08/2020
CCDC50 nonsyndromic genetic deafness AD Hearing Loss SOP6 Limited 12/19/2017
CCDC78 centronuclear myopathy AD Congenital Myopathies SOP7 Limited 12/09/2019
CD164 nonsyndromic genetic deafness AD Hearing Loss SOP6 Limited 03/20/2018
CD3E severe combined immunodeficiency (disease) AR General Gene Curation SOP4 Definitive 01/09/2017
CDC14A hearing impairment and infertile male syndrome AR Hearing Loss SOP7 Strong 03/11/2020
CDC14A nonsyndromic genetic deafness AR Hearing Loss SOP6 Limited 02/26/2018
CDC73 hyperparathyroidism-jaw tumor syndrome AD Hereditary Cancer SOP6 Definitive 04/19/2019
CDH1 familial ovarian cancer AD Breast/Ovarian Cancer SOP4 No Reported Evidence 08/03/2017
CDH1 hereditary nonpolyposis colon cancer AD Colon Cancer SOP4 Limited 06/08/2017
CDH1 hereditary diffuse gastric adenocarcinoma AD Hereditary Cancer SOP6 Definitive 04/19/2019
CDH1 hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 Definitive 01/25/2017
CDH2 arrhythmogenic right ventricular cardiomyopathy AD Arrythmogenic Right Ventricular Cardiomyopathy SOP7 Limited 07/13/2018
CDH23 Usher syndrome type 1 AR Hearing Loss SOP4 Definitive 01/30/2017
CDH23 nonsyndromic genetic deafness AR Hearing Loss SOP6 Definitive 05/22/2018
CDK4 melanoma, cutaneous malignant, susceptibility to, 3 AD Hereditary Cancer SOP7 Definitive 01/13/2020
CDKL5 CDKL5 disorder XL Rett and Angelman-like Disorders SOP5 Definitive 07/02/2018
CDKN1B hereditary nonpolyposis colon cancer AR Colon Cancer SOP4 Limited 06/08/2017
CDKN1B multiple endocrine neoplasia type 4 AD Hereditary Cancer SOP6 Definitive 12/21/2018
CDKN2A melanoma-pancreatic cancer syndrome AD Hereditary Cancer SOP6 Definitive 08/14/2019
CEACAM16 nonsyndromic genetic deafness AD Hearing Loss SOP6 Moderate 03/20/2018
CEBPA acute myeloid leukemia AD Hereditary Cancer SOP6 Definitive 08/18/2019
CEMIP nonsyndromic genetic deafness AR Hearing Loss SOP6 Disputed 07/17/2018
CEP57 mosaic variegated aneuploidy syndrome 2 AR Hereditary Cancer SOP6 Definitive 11/22/2019
CEP78 cone-rod dystrophy and hearing loss; CRDHL AR Hearing Loss SOP4 Strong 04/12/2017
CFL2 nemaline myopathy 7 AR Congenital Myopathies SOP6 Definitive 11/25/2019
CHD1L congenital anomaly of kidney and urinary tract AD General Gene Curation SOP4 Limited 11/18/2016
CHD2 complex neurodevelopmental disorder AD Epilepsy SOP5 Definitive 07/18/2018
CHD7 CHARGE syndrome AD Hearing Loss SOP7 Definitive 08/23/2018
CHD8 autism spectrum disorder AD Intellectual Disability and Autism SOP5 Definitive 08/27/2018
CHEK1 familial ovarian cancer AD Breast/Ovarian Cancer SOP4 No Reported Evidence 10/12/2016
CHEK1 hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 No Reported Evidence 10/12/2016
CHEK2 hereditary nonpolyposis colon cancer AD Breast/Ovarian Cancer SOP4 Limited 03/13/2017
CHEK2 hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 Definitive 12/14/2016
CHEK2 familial ovarian cancer AD Breast/Ovarian Cancer SOP4 Disputed 12/14/2016
CHRNA4 epilepsy, nocturnal frontal lobe AD Epilepsy SOP7 Definitive 02/18/2020
CIB2 nonsyndromic genetic deafness AR Hearing Loss SOP6 Definitive 02/20/2018
CIB2 Usher syndrome type 1 AR Hearing Loss SOP6 Refuted 02/19/2019
CISD2 Wolfram syndrome AR Hearing Loss SOP6 Strong 03/27/2018
CLCN4 non-syndromic X-linked intellectual disability XL Intellectual Disability and Autism SOP4 Definitive 10/20/2017
CLDN14 nonsyndromic genetic deafness AR Hearing Loss SOP6 Definitive 05/01/2018
CLIC5 autosomal recessive nonsyndromic deafness AR Hearing Loss SOP4 Moderate 11/21/2017
CLN8 neuronal ceroid lipofuscinosis AR Epilepsy SOP7 Definitive 09/07/2020
CLPP Perrault syndrome 3 AR Hearing Loss SOP6 Definitive 03/27/2018
CLRN1 Usher syndrome type 3 AR Hearing Loss SOP4 Definitive 03/02/2017
CNTNAP2 autism (disease) AD Intellectual Disability and Autism SOP6 Refuted 09/18/2019
COCH nonsyndromic genetic deafness AD Hearing Loss SOP6 Definitive 01/05/2018
COL11A2 nonsyndromic genetic deafness AR Hearing Loss SOP6 Moderate 12/20/2018
COL11A2 nonsyndromic genetic deafness AD Hearing Loss SOP6 Moderate 12/20/2018
COL11A2 otospondylomegaepiphyseal dysplasia AR Hearing Loss SOP6 Definitive 12/20/2018
COL11A2 otospondylomegaepiphyseal dysplasia AD Hearing Loss SOP6 Definitive 12/20/2018
COL2A1 spondyloepiphyseal dysplasia, Stanescu type AD General Gene Curation SOP4 Moderate 12/01/2016
COL3A1 Ehlers-Danlos syndrome, vascular type AD General Gene Curation SOP6 Definitive 02/27/2019
COL4A5 Alport syndrome XL Hearing Loss SOP6 Definitive 03/19/2019
COL4A6 deafness, X-linked 6 XL Hearing Loss SOP6 Limited 01/16/2018
COL9A1 Stickler syndrome AR Familial Thoracic Aortic Aneurysm and Dissection SOP4 Limited 03/26/2018
COL9A2 Stickler syndrome AR Hearing Loss SOP6 Limited 02/19/2019
COL9A3 Stickler syndrome AR Hearing Loss SOP7 Moderate 09/17/2019
COX10 Leigh syndrome AR Mitochondrial Diseases SOP6 Moderate 05/20/2019
COX15 Leigh syndrome AR Mitochondrial Diseases SOP6 Limited 05/20/2019
CPS1 carbamoyl phosphate synthetase I deficiency disease AR Aminoacidopathy SOP7 Definitive 10/12/2018
CPT1A carnitine palmitoyl transferase 1A deficiency AR Fatty Acid Oxidation Disorders EP SOP6 Definitive 01/23/2018
CPT2 carnitine palmitoyltransferase II deficiency AR Fatty Acid Oxidation Disorders EP SOP6 Definitive 03/27/2018
CREBBP Rubinstein-Taybi syndrome due to CREBBP mutations AD Intellectual Disability and Autism SOP4 Definitive 02/21/2018
CRYM autosomal dominant nonsyndromic deafness 40 AD Hearing Loss SOP4 Limited 02/16/2017
CSRP3 hypertrophic cardiomyopathy 12 AD Hypertrophic Cardiomyopathy SOP4 Moderate 12/19/2017
CTF1 dilated cardiomyopathy AD Dilated Cardiomyopathy SOP7 Limited 08/12/2020
CTH cystathioninuria (disease) AR Aminoacidopathy SOP6 Definitive 06/14/2019
CTNNA1 hereditary nonpolyposis colon cancer AD Colon Cancer SOP4 No Reported Evidence 04/24/2017
CTNNA3 arrhythmogenic right ventricular cardiomyopathy AD Arrythmogenic Right Ventricular Cardiomyopathy SOP7 Limited 08/06/2019
CUL4B X-linked intellectual disability, Cabezas type XL Intellectual Disability and Autism SOP4 Definitive 02/21/2018
CYLD Brooke-Spiegler syndrome AD Hereditary Cancer SOP6 Definitive 04/19/2019
DBT maple syrup urine disease AR Aminoacidopathy SOP6 Definitive 10/30/2018
DCDC2 nonsyndromic genetic deafness AR Hearing Loss SOP7 Limited 08/31/2020
DDB2 xeroderma pigmentosum group E AR Hereditary Cancer SOP6 Definitive 04/19/2019
DDX3X X-linked syndromic intellectual disability XL Intellectual Disability and Autism SOP7 Definitive 05/05/2020
DDX41 DDX41-related hematologic malignancy predisposition syndrome AD Hereditary Cancer SOP7 Definitive 07/30/2020
DEPDC5 familial focal epilepsy with variable foci AD Epilepsy SOP5 Definitive 08/24/2018
DES arrhythmogenic right ventricular cardiomyopathy AD Arrythmogenic Right Ventricular Cardiomyopathy SOP7 Moderate 09/11/2018
DES myofibrillar myopathy (disease) SD Limb Girdle Muscular Dystrophy SOP7 Definitive 08/20/2020
DHCR7 Smith-Lemli-Opitz syndrome AR Intellectual Disability and Autism SOP5 Definitive 09/11/2018
DIABLO nonsyndromic genetic deafness AD Hearing Loss SOP6 Limited 12/19/2017
DIAPH1 diaph1-related sensorineural hearing loss-thrombocytopenia syndrome AD Hearing Loss SOP6 Definitive 01/05/2018
DIAPH3 auditory neuropathy AD Hearing Loss SOP7 Limited 02/06/2020
DICER1 pleuropulmonary blastoma AD General Gene Curation SOP4 Definitive 01/08/2017
DIS3L2 Perlman syndrome AR Hereditary Cancer SOP6 Definitive 11/21/2019
DLD pyruvate dehydrogenase E3 deficiency AR Aminoacidopathy SOP6 Definitive 03/08/2019
DLG3 non-syndromic X-linked intellectual disability XL Intellectual Disability and Autism SOP5 Definitive 08/24/2018
DMGDH dimethylglycine dehydrogenase deficiency AR Aminoacidopathy SOP6 Limited 06/28/2019
DMXL2 nonsyndromic genetic deafness AD Hearing Loss SOP7 Limited 02/06/2020
DNM1 early infantile epileptic encephalopathy AD Epilepsy SOP4 Definitive 12/13/2016
DNM2 autosomal dominant centronuclear myopathy AD Congenital Myopathies SOP6 Definitive 12/20/2019
DNMT1 autosomal dominant cerebellar ataxia, deafness and narcolepsy AD Hearing Loss SOP4 Definitive 02/10/2017
DSC2 familial isolated arrhythmogenic right ventricular dysplasia AD Arrythmogenic Right Ventricular Cardiomyopathy SOP7 Definitive 09/14/2018
DSG2 arrhythmogenic right ventricular cardiomyopathy AD Arrythmogenic Right Ventricular Cardiomyopathy SOP7 Definitive 09/14/2018
DSG2 dilated cardiomyopathy AD Dilated Cardiomyopathy SOP7 Limited 08/07/2020
DSP dilated cardiomyopathy AD Dilated Cardiomyopathy SOP7 Strong 08/12/2020
DSP hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP7 No Reported Evidence 04/07/2020
DSP arrhythmogenic cardiomyopathy with woolly hair and keratoderma AD Arrythmogenic Right Ventricular Cardiomyopathy SOP7 Definitive 07/12/2019
DSPP dentinogenesis imperfecta (disease) AD Hearing Loss SOP6 Definitive 04/17/2018
DTNA dilated cardiomyopathy AD Dilated Cardiomyopathy SOP7 Limited 08/12/2020
DYRK1A complex neurodevelopmental disorder AD Intellectual Disability and Autism SOP7 Definitive 07/15/2020
DYSF autosomal recessive limb-girdle muscular dystrophy AR Limb Girdle Muscular Dystrophy SOP7 Definitive 05/01/2020
EARS2 Leigh syndrome AR Mitochondrial Diseases SOP7 Definitive 03/19/2020
ECHS1 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency AR Fatty Acid Oxidation Disorders EP SOP6 Definitive 10/09/2018
EDN3 Waardenburg syndrome type 4B AD Hearing Loss SOP5 Limited 05/30/2018
EDN3 Waardenburg syndrome type 4B AR Hearing Loss SOP6 Moderate 05/08/2018
EDNRB Waardenburg syndrome type 4A AR Hearing Loss SOP6 Moderate 05/08/2018
EDNRB Waardenburg syndrome type 4A AD Hearing Loss SOP6 Limited 05/08/2018
EEF1A2 complex neurodevelopmental disorder AD Epilepsy SOP6 Definitive 03/19/2019
EFEMP2 familial thoracic aortic aneurysm and aortic dissection AR Familial Thoracic Aortic Aneurysm and Dissection SOP4 Moderate 12/22/2016
EFHC1 juvenile myoclonic epilepsy AD Epilepsy SOP5 Disputed 07/27/2018
EGFR non-small cell lung carcinoma (disease) AD Hereditary Cancer SOP7 Definitive 07/30/2020
EHMT1 Kleefstra syndrome AD Intellectual Disability and Autism SOP5 Definitive 06/07/2018
ELANE neutropenia AD Hereditary Cancer SOP7 Definitive 05/14/2020
ELMOD3 nonsyndromic genetic deafness AR Hearing Loss SOP6 Limited 05/04/2017
ENG generalized juvenile polyposis/juvenile polyposis coli AD Colon Cancer SOP4 Limited 12/11/2017
ENG hereditary hemorrhagic telangiectasia AD Hemostasis Thrombosis SOP6 Definitive 08/28/2019
EPCAM colorectal cancer, hereditary nonpolyposis, type 8 AD Colon Cancer SOP4 Definitive 09/11/2017
EPCAM hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 No Reported Evidence 04/12/2017
EPHX1 hereditary nonpolyposis colon cancer AD Colon Cancer SOP4 Limited 11/08/2016
EPM2A Lafora disease AR Epilepsy SOP7 Definitive 05/23/2020
EPS8 autosomal recessive nonsyndromic deafness 102 AR Hearing Loss SOP7 Moderate 02/06/2020
EPS8L2 nonsyndromic genetic deafness AR Hearing Loss SOP7 Moderate 02/05/2020
ERCC2 xeroderma pigmentosum group D AR Hereditary Cancer SOP6 Definitive 04/19/2019
ERCC3 xeroderma pigmentosum group B AR Hereditary Cancer SOP6 Definitive 04/19/2019
ERCC4 xeroderma pigmentosum group F AR Hereditary Cancer SOP6 Definitive 08/14/2019
ERCC5 xeroderma pigmentosum group G AR Hereditary Cancer SOP6 Definitive 04/19/2019
ESPN nonsyndromic genetic deafness AD Hearing Loss SOP5 Limited 09/20/2018
ESPN nonsyndromic genetic deafness AR Hearing Loss SOP6 Definitive 02/27/2018
ESRRB nonsyndromic genetic deafness AR Hearing Loss SOP6 Definitive 04/24/2018
ETFA multiple acyl-CoA dehydrogenase deficiency AR Fatty Acid Oxidation Disorders EP SOP6 Definitive 05/22/2018
ETFB multiple acyl-CoA dehydrogenase deficiency AR Fatty Acid Oxidation Disorders EP SOP6 Moderate 06/12/2018
ETFDH multiple acyl-CoA dehydrogenase deficiency AR Fatty Acid Oxidation Disorders EP SOP6 Definitive 05/22/2018
ETHE1 Leigh syndrome AR Mitochondrial Diseases SOP6 Definitive 04/08/2019
ETV6 thrombocytopenia 5 AD Hemostasis Thrombosis SOP7 Definitive 01/22/2020
EXO1 hereditary nonpolyposis colon cancer AD Colon Cancer SOP4 Disputed 06/08/2017
EXT1 exostoses, multiple, type 1 AD Hereditary Cancer SOP5 Definitive 06/04/2018
EXT2 exostoses, multiple, type 2 AD Hereditary Cancer SOP6 Definitive 12/21/2018
EYA1 branchio-oto-renal syndrome AD Hearing Loss SOP5 Definitive 08/30/2018
EYA4 nonsyndromic genetic deafness AD Hearing Loss SOP6 Definitive 01/05/2018
EYA4 dilated cardiomyopathy 1J AD Dilated Cardiomyopathy SOP7 Limited 08/12/2020
F10 congenital factor X deficiency AR Hemostasis Thrombosis SOP6 Definitive 11/27/2019
F11 congenital factor XI deficiency SD Hemostasis Thrombosis SOP7 Definitive 10/23/2019
F12 congenital factor XII deficiency AR Hemostasis Thrombosis SOP7 Definitive 01/22/2020
F12 hereditary angioedema type 3 AD Hemostasis Thrombosis SOP7 Moderate 01/23/2020
F13A1 factor XIII, A subunit, deficiency of AR Hemostasis Thrombosis SOP7 Definitive 07/22/2020
F13B factor XIII, b subunit, deficiency of AR Hemostasis Thrombosis SOP7 Definitive 07/22/2020
F2 congenital prothrombin deficiency AR Hemostasis Thrombosis SOP7 Definitive 06/24/2020
F2 thrombophilia due to thrombin defect AD Hemostasis Thrombosis SOP7 Definitive 06/24/2020
F5 congenital factor V deficiency AR Hemostasis Thrombosis SOP7 Definitive 03/25/2020
F5 thrombophilia due to activated protein C resistance AD Hemostasis Thrombosis SOP6 Definitive 09/30/2019
F7 factor VII deficiency AR Hemostasis Thrombosis SOP6 Definitive 07/24/2019
F8 hemophilia A XL Hemostasis Thrombosis SOP6 Definitive 07/24/2019
F9 hemophilia B XL Hemostasis Thrombosis SOP6 Definitive 05/22/2019
F9 thrombophilia, X-linked, due to factor 9 defect XL Hemostasis Thrombosis SOP7 Limited 06/24/2020
FAH tyrosinemia type I AR Aminoacidopathy SOP7 Definitive 06/29/2020
FAN1 hereditary nonpolyposis colon cancer AD Colon Cancer SOP4 Limited 10/23/2017
FANCA Fanconi anemia complementation group A AR Hereditary Cancer SOP6 Definitive 04/19/2019
FANCC Fanconi anemia complementation group C AR Hereditary Cancer SOP6 Definitive 04/19/2019
FANCE Fanconi anemia complementation group E AR Hereditary Cancer SOP7 Definitive 05/14/2020
FANCF Fanconi anemia complementation group f AR Hereditary Cancer SOP7 Definitive 07/30/2020
FANCG Fanconi anemia complementation group G AR Hereditary Cancer SOP6 Definitive 04/19/2019
FANCL Fanconi anemia complementation group L AR Hereditary Cancer SOP7 Definitive 07/30/2020
FARS2 Leigh syndrome AR Mitochondrial Diseases SOP6 Moderate 11/25/2019
FBN1 familial thoracic aortic aneurysm and aortic dissection AD Familial Thoracic Aortic Aneurysm and Dissection SOP4 Definitive 01/23/2017
FBN1 Marfan syndrome AD General Gene Curation SOP6 Definitive 03/04/2019
FBN2 familial thoracic aortic aneurysm and aortic dissection AD Familial Thoracic Aortic Aneurysm and Dissection SOP4 Limited 12/22/2016
FERMT3 leukocyte adhesion deficiency 3 AR Hemostasis Thrombosis SOP6 Definitive 08/28/2019
FGA congenital fibrinogen deficiency SD Hemostasis Thrombosis SOP7 Definitive 01/22/2020
FGB congenital fibrinogen deficiency SD Hemostasis Thrombosis SOP7 Definitive 01/22/2020
FGD1 Aarskog-Scott syndrome, X-linked XLR Intellectual Disability and Autism SOP4 Definitive 12/06/2017
FGD4 Charcot-Marie-Tooth disease AR Charcot-Marie-Tooth SOP7 Definitive 04/14/2020
FGF3 deafness with labyrinthine aplasia, microtia, and microdontia AR Hearing Loss SOP6 Definitive 05/21/2019
FGFR3 achondroplasia AD General Gene Curation SOP4 Definitive 12/01/2016
FGG congenital fibrinogen deficiency SD Hemostasis Thrombosis SOP7 Definitive 01/23/2020
FH hereditary leiomyomatosis and renal cell cancer AD Hereditary Cancer SOP7 Definitive 05/14/2020
FKRP muscular dystrophy-dystroglycanopathy AR Limb Girdle Muscular Dystrophy SOP7 Definitive 08/11/2020
FKTN muscular dystrophy-dystroglycanopathy AR Limb Girdle Muscular Dystrophy SOP7 Definitive 07/01/2020
FLAD1 myopathy with abnormal lipid metabolism AR Fatty Acid Oxidation Disorders EP SOP6 Moderate 06/12/2018
FLCN Birt-Hogg-Dube syndrome AD Hereditary Cancer SOP6 Definitive 04/19/2019
FLNA familial thoracic aortic aneurysm and aortic dissection AD Familial Thoracic Aortic Aneurysm and Dissection SOP4 Limited 12/22/2016
FLNC myofibrillar myopathy 5 AD Hypertrophic Cardiomyopathy SOP4 Definitive 12/12/2017
FMO3 trimethylaminuria (disease) AR Aminoacidopathy SOP7 Definitive 08/14/2020
FMR1 fragile X syndrome XL Intellectual Disability and Autism SOP6 Definitive 06/03/2019
FOLR1 neurodegenerative syndrome due to cerebral folate transport deficiency AR Intellectual Disability and Autism SOP5 Definitive 04/27/2018
FOXE3 familial thoracic aortic aneurysm and aortic dissection AD Familial Thoracic Aortic Aneurysm and Dissection SOP4 Moderate 06/15/2016
FOXG1 FOXG1 disorder AD Rett and Angelman-like Disorders SOP5 Definitive 07/02/2018
FOXI1 enlarged vestibular aqueduct syndrome AR Hearing Loss SOP5 Disputed 09/10/2018
FOXI1 syndromic genetic deafness AR Hearing Loss SOP6 Limited 02/27/2018
FOXP1 intellectual disability-severe speech delay-mild dysmorphism syndrome AD Intellectual Disability and Autism SOP6 Definitive 05/09/2019
FOXP2 specific language disorder AD Intellectual Disability and Autism SOP6 Definitive 05/21/2019
FOXRED1 Leigh syndrome AR Mitochondrial Diseases SOP6 Moderate 10/16/2019
FTSJ1 non-syndromic X-linked intellectual disability XL Intellectual Disability and Autism SOP4 Moderate 01/17/2018
FXN Friedreich ataxia AR Hypertrophic Cardiomyopathy SOP4 Definitive 12/22/2017
GAA glycogen storage disease II AR General Gene Curation SOP6 Definitive 01/23/2019
GABRA1 developmental and epileptic encephalopathy AD Epilepsy SOP6 Definitive 05/21/2019
GABRB3 developmental and epileptic encephalopathy AD Epilepsy SOP6 Definitive 02/05/2019
GABRG2 epilepsy AD Epilepsy SOP7 Definitive 01/21/2020
GALNT12 colorectal cancer, susceptibility to, 1 AD Colon Cancer SOP4 Limited 06/08/2017
GAMT guanidinoacetate methyltransferase deficiency AR Aminoacidopathy SOP7 Definitive 01/25/2019
GATA2 GATA2 deficiency with susceptibility to MDS/AML AD Hereditary Cancer SOP6 Definitive 08/18/2019
GATA3 hypoparathyroidism-deafness-renal disease syndrome AD Hearing Loss SOP6 Definitive 06/18/2019
GATAD1 dilated cardiomyopathy AR Dilated Cardiomyopathy SOP7 Limited 09/04/2020
GATM AGAT deficiency AR Aminoacidopathy SOP7 Definitive 03/08/2019
GBA Gaucher disease AR General Gene Curation SOP7 Definitive 06/24/2020
GCDH glutaryl-CoA dehydrogenase deficiency AR Aminoacidopathy SOP7 Definitive 11/08/2019
GCK monogenic diabetes AD Monogenic Diabetes SOP7 Definitive 05/13/2020
GDAP1 Charcot-Marie-Tooth disease SD Charcot-Marie-Tooth SOP7 Definitive 07/28/2020
GDI1 non-syndromic X-linked intellectual disability XL Intellectual Disability and Autism SOP5 Moderate 05/24/2018
GEN1 familial ovarian cancer AD Breast/Ovarian Cancer SOP4 No Reported Evidence 01/11/2017
GEN1 hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 Disputed 12/13/2017
GFI1B platelet-type bleeding disorder 17 AD Hemostasis Thrombosis SOP6 Definitive 11/27/2019
GFM1 Leigh syndrome AR Mitochondrial Diseases SOP6 Moderate 12/19/2019
GFM2 Leigh syndrome AR Mitochondrial Diseases SOP6 Moderate 12/19/2019
GIPC3 nonsyndromic genetic deafness AR Hearing Loss SOP6 Definitive 08/22/2017
GJA1 nonsyndromic genetic deafness AD Hearing Loss SOP6 Disputed 01/16/2018
GJB1 Charcot-Marie-Tooth disease X-linked dominant 1 XL Charcot-Marie-Tooth SOP7 Definitive 01/14/2020
GJB2 autosomal recessive nonsyndromic deafness AR Hearing Loss SOP4 Definitive 03/02/2017
GJB2 syndromic genetic deafness AD Hearing Loss SOP6 Definitive 06/26/2018
GJB3 nonsyndromic genetic deafness AD Hearing Loss SOP5 Disputed 08/23/2018
GJB3 erythrokeratodermia variabilis AD Hearing Loss SOP6 Strong 03/05/2018
GJB6 nonsyndromic genetic deafness AR Hearing Loss SOP5 Refuted 09/10/2018
GJB6 Clouston syndrome AD Hearing Loss SOP6 Definitive 04/17/2018
GLA Fabry disease XL General Gene Curation SOP6 Definitive 01/23/2019
GLDC glycine encephalopathy AR Aminoacidopathy SOP7 Definitive 02/06/2019
GLUL congenital brain dysgenesis due to glutamine synthetase deficiency AR Aminoacidopathy SOP7 Moderate 06/29/2020
GNAO1 early infantile epileptic encephalopathy AD Epilepsy SOP6 Definitive 12/18/2018
GNAO1 movement disorder AD Epilepsy SOP6 Definitive 02/19/2019
GNB4 Charcot-Marie-Tooth disease AD Charcot-Marie-Tooth SOP7 Moderate 04/14/2020
GNMT glycine N-methyltransferase deficiency AR Aminoacidopathy SOP6 Limited 05/10/2019
GNPAT rhizomelic chondrodysplasia punctata AR Peroxisomal Disorders SOP7 Definitive 02/07/2020
GP1BA Bernard-Soulier syndrome AR Hemostasis Thrombosis SOP7 Definitive 05/27/2020
GP1BA pseudo-von Willebrand disease AD Hemostasis Thrombosis SOP7 Definitive 05/27/2020
GP1BB Bernard-Soulier syndrome AR Hemostasis Thrombosis SOP6 Definitive 06/06/2019
GP6 platelet-type bleeding disorder 11 AR Hemostasis Thrombosis SOP6 Definitive 10/23/2019
GP9 Bernard-Soulier syndrome AR Hemostasis Thrombosis SOP6 Definitive 11/27/2019
GPC3 Simpson-Golabi-Behmel syndrome XL Intellectual Disability and Autism SOP6 Definitive 12/31/2019
GPD1L Brugada syndrome 1 AD Brugada Syndrome SOP4 Disputed 11/21/2017
GPSM2 Chudley-McCullough syndrome AR Hearing Loss SOP6 Definitive 05/01/2018
GREM1 hereditary mixed polyposis syndrome AD Colon Cancer SOP4 Strong 10/11/2016
GRHL2 nonsyndromic genetic deafness AD Hearing Loss SOP7 Definitive 05/01/2020
GRIA3 complex neurodevelopmental disorder XL Intellectual Disability and Autism SOP7 Definitive 03/23/2020
GRIN1 complex neurodevelopmental disorder AD Epilepsy SOP6 Definitive 11/20/2018
GRIN1 complex neurodevelopmental disorder AR Epilepsy SOP6 Moderate 03/07/2019
GRIN2A complex neurodevelopmental disorder AD Epilepsy SOP6 Definitive 07/16/2019
GRIN2B complex neurodevelopmental disorder AD Epilepsy SOP7 Definitive 03/19/2019
GRIN2D infantile epilepsy syndrome AD Epilepsy SOP5 Limited 07/06/2018
GRXCR1 nonsyndromic genetic deafness AR Hearing Loss SOP6 Definitive 04/24/2018
GRXCR2 nonsyndromic genetic deafness AR Hearing Loss SOP6 Moderate 01/07/2019
GSDME autosomal dominant nonsyndromic deafness AD Hearing Loss SOP5 Definitive 07/19/2018
GSS inherited glutathione synthetase deficiency AR Aminoacidopathy SOP7 Definitive 04/26/2019
GSTZ1 maleylacetoacetate isomerase deficiency AR Aminoacidopathy SOP6 Moderate 03/22/2019
GTPBP3 Leigh syndrome AR Mitochondrial Diseases SOP7 Moderate 02/12/2020
HAAO vertebral, cardiac, renal, and limb defects syndrome 1 AR Aminoacidopathy SOP7 Limited 07/10/2020
HACD1 congenital myopathy AR Congenital Myopathies SOP7 Moderate 07/30/2020
HADH hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency AR Fatty Acid Oxidation Disorders EP SOP6 Definitive 06/26/2018
HADHA long chain 3-hydroxyacyl-CoA dehydrogenase deficiency AR Fatty Acid Oxidation Disorders EP SOP6 Definitive 02/12/2018
HADHB mitochondrial trifunctional protein deficiency AR Fatty Acid Oxidation Disorders EP SOP6 Definitive 05/08/2018
HAL histidinemia AR Aminoacidopathy SOP7 Limited 09/25/2020
HARS Usher syndrome type 3 AR Hearing Loss SOP5 Refuted 05/24/2018
HARS2 Perrault syndrome 2 AR Hearing Loss SOP6 Limited 05/15/2018
HCN4 familial thoracic aortic aneurysm and aortic dissection AD Familial Thoracic Aortic Aneurysm and Dissection SOP4 Limited 12/22/2016
HCN4 Brugada syndrome 1 AD Brugada Syndrome SOP4 Disputed 11/21/2017
HDAC8 Cornelia de Lange syndrome XL Intellectual Disability and Autism SOP5 Definitive 09/11/2018
HEXA Tay-Sachs disease AR General Gene Curation SOP7 Definitive 05/27/2020
HGD alkaptonuria AR Aminoacidopathy SOP7 Definitive 06/29/2020
HGF nonsyndromic genetic deafness AR Hearing Loss SOP6 Moderate 01/16/2018
HIBCH neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency AR Aminoacidopathy SOP6 Definitive 11/07/2019
HMGCL 3-hydroxy-3-methylglutaric aciduria AR Fatty Acid Oxidation Disorders EP SOP6 Definitive 06/26/2018
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase deficiency AR Fatty Acid Oxidation Disorders EP SOP6 Definitive 05/22/2018
HNF1A monogenic diabetes AD Monogenic Diabetes SOP6 Definitive 10/05/2018
HNF1B renal cysts and diabetes syndrome AD Monogenic Diabetes SOP7 Definitive 12/10/2019
HNF4A monogenic diabetes AD Monogenic Diabetes SOP6 Definitive 02/27/2019
HNRNPK neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome AD General Gene Curation SOP4 Moderate 11/15/2016
HOMER2 nonsyndromic genetic deafness AD Hearing Loss SOP7 Moderate 08/31/2020
HOXA1 complex neurodevelopmental disorder AR Intellectual Disability and Autism SOP6 Definitive 06/19/2019
HPD hawkinsinuria AD Aminoacidopathy SOP7 Limited 06/26/2020
HPD tyrosinemia type III AR Aminoacidopathy SOP7 Definitive 06/29/2020
HPRT1 Lesch-Nyhan syndrome XL Intellectual Disability and Autism SOP4 Definitive 03/07/2018
HPS1 Hermansky-Pudlak syndrome 1 AR Hemostasis Thrombosis SOP6 Definitive 07/22/2019
HPS3 Hermansky-Pudlak syndrome 3 AR Hemostasis Thrombosis SOP7 Definitive 02/26/2020
HPS4 Hermansky-Pudlak syndrome 4 AR Hemostasis Thrombosis SOP7 Definitive 05/27/2020
HRAS Noonan syndrome AD RASopathy SOP5 No Reported Evidence 07/24/2018
HRAS cardiofaciocutaneous syndrome AD RASopathy SOP5 No Reported Evidence 07/24/2018
HRAS Costello syndrome AD RASopathy SOP5 Definitive 07/24/2018
HRAS Noonan syndrome with multiple lentigines AD RASopathy SOP5 No Reported Evidence 07/24/2018
HRAS Noonan syndrome-like disorder with loose anagen hair AD RASopathy SOP5 Disputed 07/25/2018
HSD17B10 HSD10 disease XL Fatty Acid Oxidation Disorders EP SOP6 Definitive 10/09/2018
HSD17B4 Perrault syndrome AR Hearing Loss SOP5 Definitive 05/30/2018
HUWE1 non-syndromic X-linked intellectual disability XL Intellectual Disability and Autism SOP4 Definitive 10/20/2017
IARS2 Leigh syndrome AR Mitochondrial Diseases SOP6 Limited 11/25/2019
IDS mucopolysaccharidosis type 2 XLR Intellectual Disability and Autism SOP4 Definitive 02/21/2018
IDUA mucopolysaccharidosis type 1 AR General Gene Curation SOP7 Definitive 05/27/2020
IL1RAPL1 intellectual disability, X-linked 21 XL Intellectual Disability and Autism SOP4 Definitive 01/03/2018
ILDR1 nonsyndromic genetic deafness AR Hearing Loss SOP6 Definitive 11/21/2017
ILK dilated cardiomyopathy AD Dilated Cardiomyopathy SOP7 Limited 09/04/2020
INS monogenic diabetes AD Monogenic Diabetes SOP7 Definitive 05/13/2020
INS permanent neonatal diabetes mellitus AR Monogenic Diabetes SOP7 Definitive 05/13/2020
IQSEC2 complex neurodevelopmental disorder XL Intellectual Disability and Autism SOP7 Definitive 06/05/2019
ITGA2B Glanzmann's thrombasthenia AR Hemostasis Thrombosis SOP6 Definitive 09/04/2019
ITGB3 Glanzmann's thrombasthenia AR Hemostasis Thrombosis SOP6 Definitive 08/28/2019
ITK lymphoproliferative syndrome 1 AR Hereditary Cancer SOP6 Definitive 11/21/2019
IVD isovaleric acidemia AR Aminoacidopathy SOP6 Definitive 05/10/2019
JPH2 hypertrophic cardiomyopathy 17 AD Hypertrophic Cardiomyopathy SOP4 Moderate 07/18/2017
JPH2 hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP7 Moderate 07/18/2017
JUP arrhythmogenic right ventricular cardiomyopathy AD Arrythmogenic Right Ventricular Cardiomyopathy SOP7 Definitive 07/27/2018
KARS nonsyndromic genetic deafness AR Hearing Loss SOP5 Limited 08/24/2018
KAT6B RASopathy AD RASopathy SOP6 Disputed 02/04/2019
KBTBD13 nemaline myopathy 6 AD Congenital Myopathies SOP7 Moderate 06/22/2020
KCNA2 undetermined early-onset epileptic encephalopathy AD Epilepsy SOP4 Strong 10/20/2017
KCNB1 complex neurodevelopmental disorder AD Epilepsy SOP6 Definitive 04/16/2019
KCND3 Brugada syndrome 1 AD Brugada Syndrome SOP4 Disputed 11/21/2017
KCNE1 Jervell and Lange-Nielsen syndrome 2 AR Hearing Loss SOP6 Moderate 06/22/2018
KCNE3 Brugada syndrome AD Brugada Syndrome SOP4 Disputed 11/21/2017
KCNE5 Brugada syndrome AD Brugada Syndrome SOP4 Disputed 11/21/2017
KCNH2 Brugada syndrome AD Brugada Syndrome SOP4 Disputed 11/21/2017
KCNJ10 enlarged vestibular aqueduct syndrome AD Hearing Loss SOP5 Disputed 09/18/2018
KCNJ11 monogenic diabetes AD Monogenic Diabetes SOP7 Definitive 08/21/2020
KCNJ8 Brugada syndrome 1 AD Brugada Syndrome SOP4 Disputed 11/21/2017
KCNQ1 Jervell and Lange-Nielsen syndrome AR Hearing Loss SOP6 Definitive 12/19/2017
KCNQ1 hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP7 No Reported Evidence 04/07/2020
KCNQ2 undetermined early-onset epileptic encephalopathy AD Epilepsy SOP5 Definitive 06/14/2018
KCNQ4 nonsyndromic genetic deafness AD Hearing Loss SOP6 Definitive 11/21/2017
KCNT1 childhood-onset epilepsy syndrome Other Epilepsy SOP4 Definitive 10/20/2017
KCTD7 progressive myoclonic epilepsy AR Epilepsy SOP7 Definitive 09/02/2020
KDM5C X-linked syndromic intellectual disability XL Intellectual Disability and Autism SOP6 Definitive 09/28/2018
KIF1A syndromic intellectual disability AD Intellectual Disability and Autism SOP7 Definitive 09/24/2020
KIT gastrointestinal stromal tumor AD Hereditary Cancer SOP7 Definitive 01/14/2020
KITLG nonsyndromic genetic deafness AD Hearing Loss SOP6 Limited 01/16/2018
KLF10 hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP6 Limited 08/01/2017
KLF11 monogenic diabetes AD Monogenic Diabetes SOP7 Disputed 02/12/2020
KLHL40 nemaline myopathy 8 AR Congenital Myopathies SOP6 Definitive 11/05/2019
KLHL41 nemaline myopathy 9 AR Congenital Myopathies SOP6 Moderate 11/05/2019
KRAS Costello syndrome AD RASopathy SOP5 Disputed 07/24/2018
KRAS Noonan syndrome AD RASopathy SOP5 Definitive 07/24/2018
KRAS Noonan syndrome with multiple lentigines AD RASopathy SOP5 No Reported Evidence 07/24/2018
KRAS cardiofaciocutaneous syndrome AD RASopathy SOP5 Strong 07/24/2018
KRAS Noonan syndrome-like disorder with loose anagen hair AD RASopathy SOP5 No Reported Evidence 07/25/2018
KYNU vertebral, cardiac, renal, and limb defects syndrome 2 AR Aminoacidopathy SOP7 Moderate 07/10/2020
L1CAM L1 syndrome XL Intellectual Disability and Autism SOP6 Definitive 10/02/2019
LAMA4 dilated cardiomyopathy AD Dilated Cardiomyopathy SOP7 Limited 08/12/2020
LAMB1 cobblestone lissencephaly without muscular or ocular involvement AR General Gene Curation SOP4 Moderate 11/15/2016
LAMP2 Danon disease XL Hypertrophic Cardiomyopathy SOP4 Definitive 10/11/2017
LARS2 Perrault syndrome AR Hearing Loss SOP5 Strong 06/27/2018
LBR regressive spondylometaphyseal dysplasia AR General Gene Curation SOP4 Moderate 12/01/2016
LDB3 arrhythmogenic right ventricular cardiomyopathy AD Arrythmogenic Right Ventricular Cardiomyopathy SOP7 Disputed 09/12/2019
LDB3 dilated cardiomyopathy AD Dilated Cardiomyopathy SOP7 Limited 09/25/2020
LGI1 familial temporal lobe epilepsy 1 AD Epilepsy SOP7 Definitive 07/07/2020
LHFPL5 nonsyndromic genetic deafness AR Hearing Loss SOP6 Definitive 04/24/2018
LITAF Charcot-Marie-Tooth disease AD Charcot-Marie-Tooth SOP7 Moderate 04/07/2020
LMAN1 factor V and factor VIII, combined deficiency of, type 1 AR Hemostasis Thrombosis SOP6 Definitive 11/27/2019
LMNA arrhythmogenic right ventricular cardiomyopathy AD Arrythmogenic Right Ventricular Cardiomyopathy SOP7 Limited 09/06/2019
LMOD3 nemaline myopathy 10 AR Congenital Myopathies SOP6 Definitive 09/09/2019
LOX familial thoracic aortic aneurysm and aortic dissection AD Familial Thoracic Aortic Aneurysm and Dissection SOP4 Strong 07/25/2016
LOXHD1 nonsyndromic genetic deafness AR Hearing Loss SOP6 Definitive 05/08/2018
LPIN1 myoglobinuria, acute recurrent, autosomal recessive AR Fatty Acid Oxidation Disorders EP SOP6 Definitive 09/25/2018
LRPPRC Leigh syndrome AR Mitochondrial Diseases SOP6 Definitive 12/19/2019
LRRC10 dilated cardiomyopathy AR Dilated Cardiomyopathy SOP7 No Reported Evidence 09/04/2020
LRTOMT autosomal recessive nonsyndromic deafness 63 AR Hearing Loss SOP4 Definitive 02/15/2017
LYST Chediak-Higashi syndrome AR Hemostasis Thrombosis SOP7 Definitive 05/27/2020
LZTR1 Noonan syndrome AD RASopathy SOP7 Definitive 04/23/2020
LZTR1 Noonan syndrome AR RASopathy SOP7 Strong 09/11/2020
MAGI2 infantile epilepsy syndrome XL Epilepsy SOP5 Disputed 06/26/2018
MAN1B1 MAN1B1-CDG AR Intellectual Disability and Autism SOP7 Definitive 08/04/2020
MAOA Brunner syndrome XL Intellectual Disability and Autism SOP7 Definitive 04/14/2020
MAP2K1 Noonan syndrome AD RASopathy SOP5 Limited 07/24/2018
MAP2K1 Costello syndrome AD RASopathy SOP5 Disputed 07/24/2018
MAP2K1 Noonan syndrome with multiple lentigines AD RASopathy SOP5 Limited 05/29/2018
MAP2K1 cardiofaciocutaneous syndrome AD RASopathy SOP5 Definitive 05/29/2018
MAP2K1 Noonan syndrome-like disorder with loose anagen hair AD RASopathy SOP5 No Reported Evidence 07/25/2018
MAP2K2 Noonan syndrome-like disorder with loose anagen hair AD RASopathy SOP5 No Reported Evidence 05/29/2018
MAP2K2 cardiofaciocutaneous syndrome AD RASopathy SOP5 Definitive 07/24/2018
MAP2K2 Costello syndrome AD RASopathy SOP5 No Reported Evidence 05/29/2018
MAP2K2 Noonan syndrome AD RASopathy SOP5 Limited 06/01/2018
MAP2K2 Noonan syndrome with multiple lentigines AD RASopathy SOP5 No Reported Evidence 05/29/2018
MAP3K20 myopathy, centronuclear, 6, with fiber-type disproportion AR Congenital Myopathies SOP7 Moderate 06/08/2020
MARVELD2 nonsyndromic genetic deafness AR Hearing Loss SOP5 Definitive 08/29/2018
MAT1A brain demyelination due to methionine adenosyltransferase deficiency AR Aminoacidopathy SOP7 Definitive 09/13/2019
MAT2A familial thoracic aortic aneurysm and aortic dissection AD Familial Thoracic Aortic Aneurysm and Dissection SOP4 Limited 07/03/2016
MBD5 complex neurodevelopmental disorder AD Intellectual Disability and Autism SOP6 Moderate 11/21/2018
MBTPS2 ichthyosis follicularis-alopecia-photophobia syndrome XL Intellectual Disability and Autism SOP7 Moderate 07/21/2020
MCCC1 3-methylcrotonyl-CoA carboxylase deficiency AR Aminoacidopathy SOP6 Definitive 10/25/2019
MCCC2 3-methylcrotonyl-CoA carboxylase deficiency AR Aminoacidopathy SOP6 Definitive 10/25/2019
MCM2 autosomal dominant nonsyndromic deafness 70 AD Hearing Loss SOP4 Limited 01/04/2018
MCM2 nonsyndromic genetic deafness AD Hearing Loss SOP7 Limited 04/21/2020
MCPH1 familial ovarian cancer AD Breast/Ovarian Cancer SOP4 No Reported Evidence 01/11/2017
MCPH1 hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 Limited 01/11/2017
MECP2 Rett syndrome XL Rett and Angelman-like Disorders SOP5 Definitive 05/02/2018
MED12 MED12-related intellectual disability syndrome XL Intellectual Disability and Autism SOP5 Definitive 04/27/2018
MED23 syndromic intellectual disability AR Intellectual Disability and Autism SOP7 Moderate 04/01/2020
MEF2C complex neurodevelopmental disorder AD Intellectual Disability and Autism SOP6 Definitive 02/06/2019
MEGF10 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome AR Congenital Myopathies SOP7 Definitive 01/27/2020
MEN1 multiple endocrine neoplasia type 1 AD Hereditary Cancer SOP7 Definitive 05/14/2020
MET papillary renal cell carcinoma AD Hereditary Cancer SOP6 Definitive 10/11/2018
MET nonsyndromic genetic deafness AR Hearing Loss SOP6 Limited 12/19/2017
MFAP5 familial thoracic aortic aneurysm and aortic dissection AD Familial Thoracic Aortic Aneurysm and Dissection SOP4 Moderate 12/22/2016
MIB1 dilated cardiomyopathy AD Dilated Cardiomyopathy SOP7 No Reported Evidence 09/04/2020
MID1 X-linked Opitz G/BBB syndrome XL Intellectual Disability and Autism SOP4 Definitive 03/21/2018
MIR96 nonsyndromic genetic deafness AD Hearing Loss SOP7 Moderate 12/04/2018
MITF Waardenburg syndrome type 2 AD Hearing Loss SOP5 Definitive 07/26/2018
MLH1 hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 Disputed 06/14/2017
MLH1 colorectal cancer, hereditary nonpolyposis, type 2 AD Colon Cancer SOP4 Definitive 07/10/2017
MLH1 constitutional mismatch repair deficiency syndrome AR Hereditary Cancer SOP6 Definitive 10/09/2018
MLH3 hereditary nonpolyposis colon cancer AD Colon Cancer SOP4 Moderate 02/14/2017
MLYCD malonic aciduria AR Fatty Acid Oxidation Disorders EP SOP6 Definitive 06/26/2018
MMACHC methylmalonic aciduria and homocystinuria type cblC AR Aminoacidopathy SOP7 Definitive 06/29/2020
MRAS Costello syndrome AD RASopathy SOP5 No Reported Evidence 06/06/2018
MRAS Noonan syndrome with multiple lentigines AD RASopathy SOP5 No Reported Evidence 06/06/2018
MRAS cardiofaciocutaneous syndrome AD RASopathy SOP5 No Reported Evidence 06/06/2018
MRAS Noonan syndrome AD RASopathy SOP5 Limited 06/06/2018
MRAS Noonan syndrome-like disorder with loose anagen hair AD RASopathy SOP5 No Reported Evidence 06/06/2018
MRE11 hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 Disputed 10/25/2017
MRE11 familial ovarian cancer AD Breast/Ovarian Cancer SOP4 Disputed 10/25/2017
MRPS34 Leigh syndrome AR Mitochondrial Diseases SOP7 Moderate 08/27/2020
MSH2 Lynch syndrome AD Colon Cancer SOP4 Definitive 09/11/2017
MSH2 hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 Disputed 10/11/2017
MSH2 constitutional mismatch repair deficiency syndrome AR Hereditary Cancer SOP6 Definitive 10/09/2018
MSH3 MSH3-related attenuated familial adenomatous polyposis AR Colon Cancer SOP4 Moderate 12/13/2016
MSH3 hereditary nonpolyposis colon cancer AD Colon Cancer SOP4 Limited 11/13/2017
MSH6 Lynch syndrome AD Colon Cancer SOP4 Definitive 09/25/2017
MSH6 hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 Disputed 07/26/2017
MSH6 constitutional mismatch repair deficiency syndrome AR Hereditary Cancer SOP6 Definitive 10/09/2018
MSRB3 nonsyndromic genetic deafness AR Hearing Loss SOP6 Moderate 11/15/2017
MSX2 parietal foramina AD Craniofacial Malformations SOP7 Definitive 08/20/2020
MTFMT Leigh syndrome AR Mitochondrial Diseases SOP7 Definitive 03/19/2020
MTHFR homocystinuria due to methylene tetrahydrofolate reductase deficiency AR Aminoacidopathy SOP6 Definitive 06/18/2019
MTM1 X-linked centronuclear myopathy XL Congenital Myopathies SOP7 Definitive 11/22/2019
MTMR2 demyelinating hereditary motor and sensory neuropathy AR Charcot-Marie-Tooth SOP7 Definitive 02/11/2020
MUT methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency AR Aminoacidopathy SOP7 Definitive 05/09/2019
MUTYH MUTYH-related attenuated familial adenomatous polyposis AD Colon Cancer SOP4 Moderate 10/09/2017
MUTYH MUTYH-related attenuated familial adenomatous polyposis AR Colon Cancer SOP4 Definitive 06/12/2017
MUTYH familial ovarian cancer AD Breast/Ovarian Cancer SOP4 Limited 11/29/2017
MUTYH hereditary breast carcinoma AR Breast/Ovarian Cancer SOP4 No Reported Evidence 05/24/2017
MUTYH hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 No Reported Evidence 05/25/2017
MUTYH familial ovarian cancer AR Breast/Ovarian Cancer SOP4 Limited 11/29/2017
MYBPC3 hypertrophic cardiomyopathy 4 AD Hypertrophic Cardiomyopathy SOP4 Definitive 09/05/2017
MYBPC3 arrhythmogenic right ventricular cardiomyopathy AD Arrythmogenic Right Ventricular Cardiomyopathy SOP7 Limited 08/06/2019
MYBPC3 dilated cardiomyopathy AD Dilated Cardiomyopathy SOP7 Limited 09/04/2020
MYH11 familial thoracic aortic aneurysm and aortic dissection AD Familial Thoracic Aortic Aneurysm and Dissection SOP4 Definitive 07/03/2016
MYH14 nonsyndromic genetic deafness AD Hearing Loss SOP7 Moderate 08/31/2020
MYH2 myopathy, proximal, and ophthalmoplegia SD Congenital Myopathies SOP7 Definitive 03/09/2020
MYH6 hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP4 Limited 11/01/2017
MYH6 dilated cardiomyopathy AD Dilated Cardiomyopathy SOP7 Limited 09/04/2020
MYH7 arrhythmogenic right ventricular cardiomyopathy AD Arrythmogenic Right Ventricular Cardiomyopathy SOP7 Limited 08/06/2019
MYH7 hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP4 Definitive 12/02/2017
MYH9 MYH-9 related disease AD Hearing Loss SOP5 Definitive 07/17/2018
MYL1 congenital myopathy AR Congenital Myopathies SOP7 Limited 04/13/2020
MYL2 hypertrophic cardiomyopathy 10 AD Hypertrophic Cardiomyopathy SOP4 Definitive 02/07/2017
MYL2 arrhythmogenic right ventricular cardiomyopathy AD Arrythmogenic Right Ventricular Cardiomyopathy SOP7 No Reported Evidence 05/24/2019
MYL3 hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP4 Definitive 10/04/2016
MYL3 arrhythmogenic right ventricular cardiomyopathy AD Arrythmogenic Right Ventricular Cardiomyopathy SOP7 Limited 09/13/2019
MYLK familial thoracic aortic aneurysm and aortic dissection AD Familial Thoracic Aortic Aneurysm and Dissection SOP4 Strong 12/18/2016
MYLK2 hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP6 Limited 04/17/2017
MYO15A nonsyndromic genetic deafness AR Hearing Loss SOP6 Definitive 11/21/2017
MYO18B Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome AR Congenital Myopathies SOP7 Limited 01/12/2020
MYO1A nonsyndromic genetic deafness AD Hearing Loss SOP6 Refuted 01/16/2018
MYO1C autosomal dominant nonsyndromic deafness AD Hearing Loss SOP5 Disputed 06/28/2018
MYO1F nonsyndromic genetic deafness AD Hearing Loss SOP5 Disputed 08/22/2018
MYO3A nonsyndromic genetic deafness AR Hearing Loss SOP6 Strong 11/15/2017
MYO6 nonsyndromic genetic deafness AD Hearing Loss SOP6 Definitive 02/20/2018
MYO7A Usher syndrome type 1 AR Hearing Loss SOP5 Definitive 06/29/2018
MYO7A nonsyndromic genetic deafness AD Hearing Loss SOP6 Definitive 03/19/2018
MYO9A arthrogryposis syndrome AR General Gene Curation SOP4 Limited 11/24/2016
MYOM1 hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP5 Limited 08/01/2018
MYOZ2 hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP5 Limited 08/01/2018
MYPN nemaline myopathy 11 AR Congenital Myopathies SOP7 Definitive 06/17/2020
MYPN hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP7 Limited 05/01/2020
NADK2 progressive encephalopathy with leukodystrophy due to DECR deficiency AR Fatty Acid Oxidation Disorders EP SOP6 Moderate 02/27/2018
NAGS hyperammonemia due to N-acetylglutamate synthase deficiency AR Aminoacidopathy SOP7 Definitive 07/26/2019
NARS2 nonsyndromic genetic deafness AR Hearing Loss SOP6 Limited 12/19/2017
NARS2 Leigh syndrome AR Mitochondrial Diseases SOP6 Limited 12/19/2019
NBEAL2 gray platelet syndrome AR Hemostasis Thrombosis SOP6 Definitive 06/26/2019
NBN hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 Limited 09/27/2017
NBN Nijmegen breakage syndrome AR Hereditary Cancer SOP6 Definitive 08/14/2019
NDP Norrie disease XL Intellectual Disability and Autism SOP4 Definitive 03/21/2018
NDUFA1 Leigh syndrome XL Mitochondrial Diseases SOP6 Moderate 05/20/2019
NDUFA10 Leigh syndrome AR Mitochondrial Diseases SOP6 Limited 11/25/2019
NDUFA12 Leigh syndrome AR Mitochondrial Diseases SOP6 Limited 11/25/2019
NDUFA2 Leigh syndrome AR Mitochondrial Diseases SOP6 Moderate 05/20/2019
NDUFA9 Leigh syndrome AR Mitochondrial Diseases SOP6 Moderate 11/25/2019
NDUFAF4 Leigh syndrome AR Mitochondrial Diseases SOP7 Limited 02/12/2020
NDUFS1 Leigh syndrome AR Mitochondrial Diseases SOP6 Definitive 06/20/2019
NDUFS3 Leigh syndrome AR Mitochondrial Diseases SOP6 Moderate 06/20/2019
NDUFS4 Leigh syndrome AR Mitochondrial Diseases SOP6 Definitive 04/08/2019
NDUFS7 Leigh syndrome AR Mitochondrial Diseases SOP6 Moderate 11/25/2019
NDUFS8 Leigh syndrome AR Mitochondrial Diseases SOP6 Moderate 11/25/2019
NDUFV1 Leigh syndrome AR Mitochondrial Diseases SOP6 Definitive 11/26/2019
NDUFV2 Leigh syndrome AR Mitochondrial Diseases SOP6 Limited 11/25/2019
NEB nemaline myopathy 2 AR Congenital Myopathies SOP6 Definitive 10/21/2019
NEBL dilated cardiomyopathy AD Dilated Cardiomyopathy SOP7 Limited 09/25/2020
NEXMIF complex neurodevelopmental disorder XL Intellectual Disability and Autism SOP7 Definitive 05/29/2020
NEXN hypertrophic cardiomyopathy 20 AD Hypertrophic Cardiomyopathy SOP4 Limited 11/01/2016
NEXN hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP7 Limited 10/28/2016
NEXN dilated cardiomyopathy AD Dilated Cardiomyopathy SOP7 Moderate 08/12/2020
NF1 familial ovarian cancer AD Breast/Ovarian Cancer SOP4 No Reported Evidence 02/22/2017
NF1 neurofibromatosis type 1 AD General Gene Curation SOP7 Definitive 03/05/2019
NF2 neurofibromatosis type 2 AD General Gene Curation SOP6 Definitive 02/27/2019
NFKBIZ hereditary nonpolyposis colon cancer AD Colon Cancer SOP4 Limited 07/10/2017
NGLY1 NGLY1-deficiency AR General Gene Curation SOP4 Definitive 12/01/2016
NHP2 dyskeratosis congenita AR General Gene Curation SOP4 Limited 01/25/2017
NHS Nance-Horan syndrome XL Intellectual Disability and Autism SOP4 Definitive 10/20/2017
NIPBL Cornelia de Lange syndrome AD Intellectual Disability and Autism SOP5 Definitive 06/20/2018
NLGN3 complex neurodevelopmental disorder XL Intellectual Disability and Autism SOP5 Moderate 09/19/2018
NLGN4X complex neurodevelopmental disorder XL Intellectual Disability and Autism SOP6 Definitive 07/17/2019
NOTCH1 familial thoracic aortic aneurysm and aortic dissection AD Familial Thoracic Aortic Aneurysm and Dissection SOP4 Limited 04/06/2016
NPPA dilated cardiomyopathy AR Dilated Cardiomyopathy SOP7 No Reported Evidence 09/04/2020
NRAS cardiofaciocutaneous syndrome AD RASopathy SOP5 Limited 07/24/2018
NRAS Noonan syndrome-like disorder with loose anagen hair AD RASopathy SOP5 No Reported Evidence 05/30/2018
NRAS Costello syndrome AD RASopathy SOP5 Limited 07/24/2018
NRAS Noonan syndrome AD RASopathy SOP5 Definitive 05/30/2018
NRAS Noonan syndrome with multiple lentigines AD RASopathy SOP5 Limited 05/30/2018
NRXN1 complex neurodevelopmental disorder AD Intellectual Disability and Autism SOP6 Definitive 07/10/2019
NSD1 Sotos syndrome AD Intellectual Disability and Autism SOP6 Definitive 10/26/2018
NSDHL CK syndrome XL Intellectual Disability and Autism SOP6 Limited 12/19/2019
NSUN2 intellectual disability AR Intellectual Disability and Autism SOP6 Moderate 02/06/2019
NSUN2 RASopathy AR RASopathy SOP6 Disputed 02/04/2019
NUBPL Leigh syndrome AR Mitochondrial Diseases SOP7 Moderate 03/19/2020
OAT gyrate atrophy AR Aminoacidopathy SOP7 Definitive 07/10/2019
OBSCN hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP5 Limited 08/06/2018
OCRL oculocerebrorenal syndrome XL Intellectual Disability and Autism SOP7 Definitive 07/10/2020
OFD1 ciliopathy XL Intellectual Disability and Autism SOP5 Definitive 04/27/2018
ORAI1 tubular aggregate myopathy AD Congenital Myopathies SOP7 Definitive 07/13/2020
OSBPL2 nonsyndromic genetic deafness AD Hearing Loss SOP7 Moderate 02/06/2020
OTC ornithine carbamoyltransferase deficiency XL Aminoacidopathy SOP6 Definitive 10/29/2019
OTOA nonsyndromic genetic deafness AR Hearing Loss SOP6 Definitive 05/01/2018
OTOF autosomal recessive nonsyndromic deafness 9 AR Hearing Loss SOP4 Definitive 01/30/2017
OTOG nonsyndromic genetic deafness AR Hearing Loss SOP6 Definitive 06/28/2018
OTOGL nonsyndromic genetic deafness AR Hearing Loss SOP6 Definitive 01/05/2018
P2RX2 nonsyndromic genetic deafness AD Hearing Loss SOP6 Moderate 02/20/2018
PACS1 intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome AD Intellectual Disability and Autism SOP7 Definitive 06/26/2020
PAH phenylketonuria AR Aminoacidopathy SOP7 Definitive 04/24/2020
PAK3 X-linked syndromic intellectual disability XL Intellectual Disability and Autism SOP5 Definitive 08/15/2018
PALB2 hereditary nonpolyposis colon cancer AD Colon Cancer SOP4 Limited 03/12/2018
PALB2 hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 Definitive 12/01/2016
PALB2 familial ovarian cancer AD Breast/Ovarian Cancer SOP4 Moderate 11/08/2017
PALB2 Fanconi anemia complementation group N AR Hereditary Cancer SOP6 Definitive 08/18/2019
PAX3 Waardenburg syndrome AD Hearing Loss SOP6 Definitive 11/15/2017
PCCA propionic acidemia AR Aminoacidopathy SOP7 Definitive 12/13/2018
PCCB propionic acidemia AR Aminoacidopathy SOP7 Definitive 12/13/2018
PCDH15 Usher syndrome type 1 AR Hearing Loss SOP4 Definitive 02/15/2017
PCDH15 nonsyndromic genetic deafness AR Hearing Loss SOP6 Limited 06/19/2018
PCDH19 epilepsy XL Epilepsy SOP7 Definitive 09/04/2018
PCSK9 hypercholesterolemia, autosomal dominant, 3 AD General Gene Curation SOP7 Definitive 11/14/2018
PDGFRA gastrointestinal stromal tumor AD Hereditary Cancer SOP7 Definitive 01/13/2020
PDHA1 Leigh syndrome XL Mitochondrial Diseases SOP6 Definitive 04/08/2019
PDLIM3 hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP5 Limited 08/06/2018
PDLIM3 dilated cardiomyopathy AD Dilated Cardiomyopathy SOP7 Disputed 09/16/2020
PDZD7 autosomal recessive nonsyndromic deafness AR Hearing Loss SOP4 Definitive 04/26/2017
PET100 Leigh syndrome AR Mitochondrial Diseases SOP6 Moderate 05/20/2019
PET117 Leigh syndrome AR Mitochondrial Diseases SOP6 Limited 05/20/2019
PEX1 peroxisome biogenesis disorder AR Peroxisomal Disorders SOP7 Definitive 05/17/2019
PEX10 peroxisome biogenesis disorder AR Peroxisomal Disorders SOP7 Definitive 12/06/2019
PEX11B peroxisome biogenesis disorder AR Peroxisomal Disorders SOP7 Definitive 01/17/2020
PEX12 peroxisome biogenesis disorder AR Peroxisomal Disorders SOP7 Definitive 12/06/2019
PEX13 peroxisome biogenesis disorder AR Peroxisomal Disorders SOP7 Definitive 10/04/2019
PEX14 peroxisome biogenesis disorder AR Peroxisomal Disorders SOP7 Definitive 09/20/2019
PEX16 peroxisome biogenesis disorder AR Peroxisomal Disorders SOP7 Definitive 01/13/2020
PEX19 peroxisome biogenesis disorder AR Peroxisomal Disorders SOP7 Definitive 01/17/2020
PEX2 peroxisome biogenesis disorder AR Peroxisomal Disorders SOP7 Definitive 02/07/2020
PEX26 peroxisome biogenesis disorder AR Peroxisomal Disorders SOP7 Definitive 02/07/2020
PEX3 peroxisome biogenesis disorder AR Peroxisomal Disorders SOP7 Definitive 11/01/2019
PEX5 peroxisome biogenesis disorder AR Peroxisomal Disorders SOP7 Definitive 01/17/2020
PEX6 peroxisome biogenesis disorder AR Peroxisomal Disorders SOP7 Definitive 09/06/2019
PEX7 peroxisome biogenesis disorder AR Peroxisomal Disorders SOP7 Definitive 02/14/2020
PHF6 Borjeson-Forssman-Lehmann syndrome XL Intellectual Disability and Autism SOP4 Definitive 02/21/2018
PHF8 syndromic X-linked intellectual disability Siderius type XL Intellectual Disability and Autism SOP6 Definitive 11/07/2018
PHGDH neurometabolic disorder due to serine deficiency AR Aminoacidopathy SOP7 Definitive 06/29/2020
PHYKPL phosphohydroxylysinuria AR Aminoacidopathy SOP7 Limited 09/25/2020
PIGA undetermined early-onset epileptic encephalopathy XL Epilepsy SOP7 Moderate 08/13/2020
PIK3CA familial ovarian cancer AD Breast/Ovarian Cancer SOP4 No Reported Evidence 02/08/2017
PIK3CA hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 No Reported Evidence 02/08/2017
PIK3R1 SHORT syndrome AD UNC Biocuration Core SOP5 Definitive 07/06/2018
PJVK nonsyndromic genetic deafness AR Hearing Loss SOP6 Definitive 12/19/2017
PKD1 autosomal dominant polycystic kidney disease AD Harvard/Geisinger Biocuration Core SOP6 Definitive 05/22/2019
PKD2 autosomal dominant polycystic kidney disease AD Harvard/Geisinger Biocuration Core SOP6 Definitive 05/22/2019
PKP2 Brugada syndrome 1 AD Brugada Syndrome SOP4 Disputed 11/21/2017
PKP2 arrhythmogenic right ventricular cardiomyopathy AD Arrythmogenic Right Ventricular Cardiomyopathy SOP7 Definitive 03/08/2018
PLA2G4A cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder AR Hemostasis Thrombosis SOP7 Moderate 03/25/2020
PLCB1 epileptic encephalopathy, early infantile, 12 AR Epilepsy SOP7 Definitive 09/19/2020
PLG hypoplasminogenemia AR Hemostasis Thrombosis SOP6 Definitive 10/23/2019
PLN cardiomyopathy AD Hypertrophic Cardiomyopathy SOP4 Definitive 09/19/2017
PLP1 Pelizaeus-Merzbacher disease XL Intellectual Disability and Autism SOP4 Definitive 03/07/2018
PMS1 Lynch syndrome AD Colon Cancer SOP4 Refuted 05/22/2017
PMS2 hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 Disputed 11/08/2017
PMS2 Lynch syndrome AD Colon Cancer SOP4 Definitive 06/26/2017
PMS2 constitutional mismatch repair deficiency syndrome AR Hereditary Cancer SOP6 Definitive 10/09/2018
PNKP microcephaly, seizures, and developmental delay AR Epilepsy SOP7 Definitive 04/17/2020
PNPT1 autosomal recessive nonsyndromic deafness AR Hearing Loss SOP4 Limited 02/23/2017
PNPT1 Leigh syndrome AR Mitochondrial Diseases SOP7 Moderate 03/19/2020
POGZ intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome AD Intellectual Disability and Autism SOP7 Definitive 03/09/2020
POLD1 Polymerase proofreading-related adenomatous polyposis AD Colon Cancer SOP4 Definitive 04/10/2017
POLE Polymerase proofreading-related adenomatous polyposis AD Colon Cancer SOP4 Definitive 12/11/2017
POLH xeroderma pigmentosum variant type AR Hereditary Cancer SOP6 Definitive 11/02/2018
POMGNT1 muscular dystrophy-dystroglycanopathy AR Limb Girdle Muscular Dystrophy SOP7 Definitive 09/09/2020
POMGNT2 muscular dystrophy-dystroglycanopathy AR Limb Girdle Muscular Dystrophy SOP7 Definitive 09/10/2020
PORCN focal dermal hypoplasia XL Intellectual Disability and Autism SOP7 Definitive 08/05/2020
POU3F4 nonsyndromic genetic deafness XL Hearing Loss SOP6 Definitive 01/05/2018
POU4F3 nonsyndromic genetic deafness AD Hearing Loss SOP6 Definitive 11/21/2017
PPM1K maple syrup urine disease, mild variant AR Aminoacidopathy SOP7 Limited 09/25/2020
PPP1CB cardiofaciocutaneous syndrome AD RASopathy SOP5 No Reported Evidence 06/05/2018
PPP1CB Noonan syndrome AD RASopathy SOP5 No Reported Evidence 07/24/2018
PPP1CB Costello syndrome AD RASopathy SOP5 No Reported Evidence 06/05/2018
PPP1CB Noonan syndrome with multiple lentigines AD RASopathy SOP5 No Reported Evidence 06/05/2018
PPP1CB Noonan syndrome-like disorder with loose anagen hair AD RASopathy SOP7 Definitive 04/23/2020
PQBP1 Renpenning syndrome XL Intellectual Disability and Autism SOP6 Definitive 11/09/2018
PRDM16 dilated cardiomyopathy AD Dilated Cardiomyopathy SOP7 Limited 08/12/2020
PRICKLE1 progressive myoclonic epilepsy AR Epilepsy SOP7 Limited 08/18/2020
PRICKLE1 progressive myoclonic epilepsy AD Epilepsy SOP7 Disputed 09/01/2020
PRKAG2 hypertrophic cardiomyopathy AD Hypertrophic Cardiomyopathy SOP4 Definitive 01/30/2017
PRKAR1A Carney complex, type 1 AD Hereditary Cancer SOP6 Definitive 12/21/2018
PRKCSH isolated polycystic liver disease AD Cystic/Tubulointerstitial SOP7 Definitive 08/03/2020
PRKG1 familial thoracic aortic aneurysm and aortic dissection AD Familial Thoracic Aortic Aneurysm and Dissection SOP4 Strong 12/22/2016
PROC hereditary thrombophilia due to congenital protein C deficiency SD Hemostasis Thrombosis SOP7 Definitive 01/22/2020
PRODH2 hydroxyprolinemia (disease) AR Aminoacidopathy SOP6 Limited 09/13/2019
PROS1 hereditary thrombophilia due to congenital protein S deficiency SD Hemostasis Thrombosis SOP7 Definitive 01/22/2020
PRPS1 PRPS1 deficiency disorder XL Hearing Loss SOP7 Definitive 02/14/2020
PRPS1 phosphoribosylpyrophosphate synthetase superactivity XL Hearing Loss SOP7 Limited 02/14/2020
PRRT2 infantile convulsions and choreoathetosis AD Epilepsy SOP7 Definitive 01/21/2020
PRSS1 hereditary chronic pancreatitis AD Hereditary Cancer SOP7 Definitive 07/30/2020
PSAT1 neurometabolic disorder due to serine deficiency AR Aminoacidopathy SOP7 Definitive 06/29/2020
PSD3 antecubital pterygium syndrome AD General Gene Curation SOP4 Limited 11/24/2016
PSEN2 dilated cardiomyopathy AD Dilated Cardiomyopathy SOP7 Limited 09/04/2020
PSPH neurometabolic disorder due to serine deficiency AR Aminoacidopathy SOP7 Moderate 06/29/2020
PTCD3 Leigh syndrome AR Mitochondrial Diseases SOP6 Limited 06/20/2019
PTCH1 nevoid basal cell carcinoma syndrome AD Hereditary Cancer SOP5 Definitive 06/04/2018
PTCH2 nevoid basal cell carcinoma syndrome AD Hereditary Cancer SOP6 Limited 10/12/2018
PTCHD1 non-syndromic X-linked intellectual disability XL Intellectual Disability and Autism SOP5 Definitive 09/19/2018
PTEN PTEN hamartoma tumor syndrome AD PTEN SOP4 Definitive 10/09/2017
PTPN11 Noonan syndrome-like disorder with loose anagen hair AD RASopathy SOP5 No Reported Evidence 05/31/2018
PTPN11 Noonan syndrome with multiple lentigines AD RASopathy SOP5 Definitive 07/25/2018
PTPN11 Noonan syndrome AD RASopathy SOP5 Definitive 07/24/2018
PTPN11 cardiofaciocutaneous syndrome AD RASopathy SOP5 Disputed 05/30/2018
PTPN11 Costello syndrome AD RASopathy SOP5 Disputed 07/24/2018
PTPRJ hereditary nonpolyposis colon cancer AD Hereditary Cancer SOP6 Limited 10/12/2018
PTPRQ autosomal recessive nonsyndromic deafness AR Hearing Loss SOP4 Definitive 02/23/2017
PTS BH4-deficient hyperphenylalaninemia A AR Aminoacidopathy SOP7 Definitive 12/22/2017
PURA complex neurodevelopmental disorder AD Epilepsy SOP6 Definitive 12/18/2018
PYCR1 autosomal recessive cutis laxa type 2B AR Aminoacidopathy SOP7 Definitive 05/21/2020
PYROXD1 myofibrillar myopathy 8 AR Congenital Myopathies SOP6 Definitive 11/05/2019
QDPR dihydropteridine reductase deficiency AR Aminoacidopathy SOP7 Definitive 06/18/2018
RAB28 cone-rod dystrophy 18 AR UNC Biocuration Core SOP5 Limited 07/06/2018
RAB39B early-onset parkinsonism-intellectual disability syndrome XL Intellectual Disability and Autism SOP5 Definitive 06/04/2018
RAD21 Cornelia de Lange syndrome AD Intellectual Disability and Autism SOP7 Definitive 01/08/2020
RAD50 familial ovarian cancer AD Breast/Ovarian Cancer SOP4 Disputed 10/26/2016
RAD50 hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 Limited 12/14/2016
RAD51C hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 Disputed 05/10/2017
RAD51C Fanconi anemia AR General Gene Curation SOP4 Moderate 01/05/2017
RAD51C familial ovarian cancer AD Breast/Ovarian Cancer SOP4 Definitive 04/12/2017
RAD51D hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 Limited 11/08/2017
RAD51D familial ovarian cancer AD Breast/Ovarian Cancer SOP4 Definitive 10/11/2017
RAF1 cardiofaciocutaneous syndrome AD RASopathy SOP5 Disputed 05/31/2018
RAF1 Noonan syndrome with multiple lentigines AD RASopathy SOP5 Limited 07/25/2018
RAF1 Noonan syndrome AD RASopathy SOP5 Definitive 07/24/2018
RAF1 Costello syndrome AD RASopathy SOP5 Disputed 07/24/2018
RAF1 Noonan syndrome-like disorder with loose anagen hair AD RASopathy SOP5 No Reported Evidence 05/31/2018
RAI1 Smith-Magenis syndrome AD Intellectual Disability and Autism SOP5 Definitive 09/27/2018
RANGRF Brugada syndrome AD Brugada Syndrome SOP4 Disputed 11/21/2017
RASA1 Noonan syndrome AD RASopathy SOP5 Disputed 06/07/2018
RASA1 cardiofaciocutaneous syndrome AD RASopathy SOP5 No Reported Evidence 06/07/2018
RASA1 Noonan syndrome with multiple lentigines AD RASopathy SOP5 No Reported Evidence 06/07/2018
RASA1 Costello syndrome AD RASopathy SOP5 No Reported Evidence 06/07/2018
RASA1 Noonan syndrome-like disorder with loose anagen hair AD RASopathy SOP5 No Reported Evidence 06/07/2018
RASA2 Noonan syndrome with multiple lentigines AD RASopathy SOP5 No Reported Evidence 06/07/2018
RASA2 Costello syndrome AD RASopathy SOP5 No Reported Evidence 06/07/2018
RASA2 cardiofaciocutaneous syndrome AD RASopathy SOP5 No Reported Evidence 06/07/2018
RASA2 Noonan syndrome AD RASopathy SOP5 Limited 07/24/2018
RASA2 Noonan syndrome-like disorder with loose anagen hair AD RASopathy SOP5 No Reported Evidence 06/07/2018
RASGRP2 platelet-type bleeding disorder 18 AR Hemostasis Thrombosis SOP6 Definitive 09/27/2019
RB1 retinoblastoma AD Hereditary Cancer SOP7 Definitive 07/30/2020
RBM20 dilated cardiomyopathy AD Dilated Cardiomyopathy SOP7 Definitive 08/20/2020
RBM8A thrombocytopenia-absent radius syndrome AR Hemostasis Thrombosis SOP7 Definitive 05/15/2020
RDX nonsyndromic genetic deafness AR Hearing Loss SOP6 Definitive 01/02/2018
RECQL hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 Moderate 09/28/2016
RECQL familial ovarian cancer AD Breast/Ovarian Cancer SOP4 No Reported Evidence 09/14/2016
RECQL4 Rothmund-Thomson syndrome AR Hereditary Cancer SOP6 Definitive 10/11/2018
RELN complex neurodevelopmental disorder AD Intellectual Disability and Autism SOP6 Disputed 05/01/2019
RET multiple endocrine neoplasia type 2A AD Hereditary Cancer SOP7 Definitive 05/14/2020
RET multiple endocrine neoplasia type 2B AD Hereditary Cancer SOP7 Definitive 05/14/2020
RHBDF2 palmoplantar keratoderma-esophageal carcinoma syndrome AD Hereditary Cancer SOP7 Definitive 07/30/2020
RINT1 familial ovarian cancer AD Breast/Ovarian Cancer SOP4 No Reported Evidence 09/14/2016
RINT1 hereditary breast carcinoma AD Breast/Ovarian Cancer SOP4 Disputed 09/26/2016
RIPOR2 nonsyndromic genetic deafness AR Hearing Loss SOP6 Moderate 09/18/2018
RIT1 Costello syndrome AD RASopathy SOP5 No Reported Evidence 07/24/2018
RIT1 Noonan syndrome AD RASopathy SOP5 Definitive 07/24/2018
RIT1 cardiofaciocutaneous syndrome AD RASopathy SOP5 No Reported Evidence 05/31/2018
RIT1 Noonan syndrome with multiple lentigines AD RASopathy SOP5 No Reported Evidence 05/31/2018
RIT1 Noonan syndrome-like disorder with loose anagen hair AD RASopathy SOP5 No Reported Evidence 05/31/2018
RNF43 sessile serrated polyposis cancer syndrome; SSPCS AD Colon Cancer SOP4 Limited 10/23/2017
ROR1 nonsyndromic genetic deafness AR Hearing Loss SOP6 Limited 03/20/2018
RPE65 Leber congenital amaurosis AR Harvard/Geisinger Biocuration Core SOP4 Definitive 02/13/2018
RPE65 retinitis pigmentosa AD Harvard/Geisinger Biocuration Core SOP4 Moderate 03/05/2018
RPL10 X-linked syndromic intellectual disability XL Intellectual Disability and Autism SOP5 Limited 04/27/2018
RPS10 Diamond-Blackfan anemia AD General Gene Curation SOP4 Definitive 01/19/2017
RPS20 hereditary nonpolyposis colon cancer AD Colon Cancer SOP4 Limited 06/08/2017
RPS24 Diamond-Blackfan anemia AD General Gene Curation SOP4 Definitive 01/19/2017
RPS6KA3 Coffin-Lowry syndrome XL Intellectual Disability and Autism SOP6