Clinical Validity Classification Summaries

 

 

HGNC Gene Symbol Disease curated Orphanet ID OMIM ID Clinical Validity Classification
ABCC9 Cantu syndrome ORPHA:1517 239850 Definitive - 09/27/2017
ABCC9 Brugada Syndrome ORPHA:130 601144 Contradictory (disputed) -
ABCD1 X-linked Adrenoleukodystrophy 139396 300100 Definitive - 02/07/2018
ACSL4 X-Linked Intellectual Disability 777 300157 Moderate - 10/20/2017
ACTA1 Hypertrophic cardiomyopathy ORPHA217569 N/A No Reported Evidence -
ACTA2 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 102620 Definitive - 09/27/2016
ACTC1 Hypertrophic cardiomyopathy ORPHA 217569 OMIM: 612098 Definitive - 10/23/2017
ACTN2 Intrinsic cardiomyopathy N/A N/A Moderate - 11/06/2017
ADCY1 Nonsyndromic sensorineural hearing loss ORPHA90636 610154 Limited - 05/10/2017
ADGRV1 Usher syndrome type 2 ORPHA231178 605472 Definitive - 02/15/2017
AFF2 Non-Syndromic X-Linked Intellectual Disability 777 309548 Definitive - 10/20/2017
AGTR2 X-linked non-syndromic intellectual disability ORPHA777 N/A Contradictory (disputed) - 11/16/2016
AKAP9 Long QT syndrome ORPHA101016 611820 Limited - 12/15/2016
ALMS1 Alstrom syndrome ORPHA64 203800 Definitive - 02/10/2017
ALPK3 Hypertrophic cardiomyopathy (recessive) ORPHA217569 617608 Strong* - 02/07/2017
ANK2 Brugada Syndrome ORPHA:130 601144 Contradictory (disputed) -
ANKRD1 Hypertrophic cardiomyopathy ORPHA 217569 609599 Limited - 09/18/2017
AP1S2 X-Linked Intellectual Disability 777 300629 Definitive - 10/20/2017
APC Familial Adenomatous Polyposis ORPHA247806 175100 Definitive - 09/11/2017
ARSD Chondrodysplasia punctata N/A N/A No Reported Evidence - 11/15/2016
ATF6 Achromatopsia ORPHA49382 616517 Strong - 11/16/2016
ATM Familial ovarian cancer ORPHA213517 N/A Limited - 07/12/2017
ATM Colorectal cancer Susceptibility 443909 N/A Moderate - 08/28/2017
ATM Hereditary breast cancer ORPHA227353 114480 Definitive - 07/12/2017
ATP7A Menkes Disease 565 309400 Definitive - 02/07/2018
ATRX ATRX-Related Syndrome N/A 309580 Definitive - 02/07/2018
AXIN2 Oligodontia-colorectal cancer syndrome ORPHA401911 608615 Moderate - 06/08/2017
BAG3 Myofibrillar Myopathy ORPHA593 612954 Definitive - 12/18/2016
BAP1 Hereditary pheochromocytoma-paraganglioma 29072 603089 Limited - 07/22/2017
BARD1 Hereditary breast cancer ORPHA227535 114480 Definitive - 08/09/2017
BARD1 Colorectal cancer Susceptibility ORPHA443909 N/A Limited - 06/08/2017
BARD1 Familial ovarian cancer ORPHA213517 N/A Limited - 08/09/2017
BGN Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 301870 Limited - 12/22/2016
BLM Colorectal cancer/Polyposis Susceptibility N/A N/A Definitive - 01/22/2018
BMPR1A Juvenile Polyposis Syndrome ORPHA329971 174900 Definitive - 06/12/2017
BRAF Costello Syndrome ORPHA3071 218040 No Reported Evidence - 11/27/2017
BRAF Cardiofaciocutaneous syndrome ORPHA1340 115150 Definitive - 06/13/2017
BRCA1 Familial breast-ovarian cancer susceptibility ORPHA145 604370 Definitive - 09/13/2017
BRCA2 Familial breast-ovarian cancer susceptibility ORPHA145 612555 Definitive - 09/13/2017
BRIP1 Hereditary breast cancer 227535 114480 Contradictory (refuted) - 05/10/2017
BRIP1 Familial ovarian cancer ORPHA213517 N/A Definitive - 10/12/2016
C1QB Immunodeficiency due to an early component of complement deficiency ORPHA169147 613652 Definitive - 01/09/2017
CACNA1C Timothy syndrome N/A 601005 Definitive - 12/13/2017
CACNA1C Brugada Syndrome ORPHA:130 601144 Contradictory (disputed) -
CACNA2D1 Brugada Syndrome ORPHA:130 601144 Contradictory (disputed) -
CACNB2 Hypertrophic cardiomyopathy ORPHA 217569 600003 No Reported Evidence -
CACNB2 Brugada Syndrome ORPHA:130 601144 Contradictory (disputed) -
CALR3: Hypertrophic cardiomyopathy N/A 611414 Limited - 02/07/2017
CASQ2 Hypertrophic cardiomyopathy ORPHA:217569 OMIM:114251 No Reported Evidence - 01/17/2017
CD164 Nonsyndromic Sensorineural Hearing Loss N/A 616969 Limited - 03/20/2018
CD3E Severe combined immunodeficiency ORPHA183660 615615 Definitive - 01/09/2017
CDH1 Hereditary colorectal cancer ORPHA443909 192090 Limited - 06/08/2017
CDH1 Hereditary breast cancer ORPHA26106 114480 Definitive - 01/25/2017
CDH1 Familial ovarian cancer ORPHA213517 N/A No Reported Evidence - 08/03/2017
CDH23 Usher syndrome type 1 ORPHA231169 276900 Definitive - 01/30/2017
CDKN1B Colorectal cancer Susceptibility ORPHA443909 N/A Limited - 06/08/2017
CEP78 Cone-rod dystrophy and hearing loss N/A 617236 Strong - 04/12/2017
CHD1L Renal or urinary tract malformation (CAKUT) ORPHA93545 N/A Limited - 11/18/2016
CHEK1 Familial ovarian cancer ORPHA213517 N/A No Reported Evidence - 10/12/2016
CHEK1 Hereditary breast cancer ORPHA227535 N/A No Reported Evidence - 10/12/2016
CHEK2 Hereditary breast cancer ORPHA227535 114480 Definitive - 12/14/2016
CHEK2 Familial ovarian cancer ORPHA213517 N/A Contradictory (disputed) - 12/14/2016
CHEK2 Colorectal cancer Susceptibility ORPHA443909 604373 Limited - 03/13/2017
CLCN4 X-Linked Intellectual Disability 777 302910 Definitive - 10/20/2017
CLIC5 nonsyndromic sensorineural deafness ORPHA90636 616042 Moderate - 11/21/2017
CLRN1 Usher syndrome type 3 231183 606397 Definitive - 03/02/2017
COL2A1 Spondyloepiphyseal dysplasia (Stanescu type) N/A 616583 Moderate - 12/01/2016
COL3A1 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 120180 Definitive - 03/14/2016
COL9A1 Stickler syndrome 828 614134 Limited - 03/26/2018
COX15 Leigh syndrome ORPHA506 256000 Strong -
CREBBP Rubinstein-Taybi Syndrome 783 180849 Definitive - 02/21/2018
CRYAB Alpha-crystallinopathy N/A N/A Definitive - 09/29/2017
CRYM nonsyndromic sensorineural hearing loss ORPHA90635 616357 Limited -
CSRP3 Hypertrophic cardiomyopathy ORPHA: 217569 OMIM: 612124 Moderate - 12/19/2017
CTCF Intellectual disability- feeding difficulties- developmental delay- microcephaly syndrome N/A 615502 Moderate -
CTNNA1 Colorectal cancer Susceptibility ORPHA443909 N/A No Reported Evidence - 04/24/2017
CUL4B X-Linked Intellectual Disability, Cabezas Type 85293 300354 Definitive - 02/21/2018
DES Myofibrillar myopathy ORPHA98909 601419 Definitive - 08/25/2017
DICER1 Pleuropulmonary blastoma ORPHA64742 601200 Definitive - 01/08/2017
DMXL2 Nonsyndromic sensorineural hearing loss ORPHA90636 612186 Moderate - 02/06/2017
DNM1 Infantile Epilepsy Syndrome ORPHA1934 602377 Definitive - 12/13/2016
DNMT1 DNMT1 methylopathy ORPHA314404 604121 Definitive - 02/10/2017
DSP Hypertrophic cardiomyopathy ORPHA:217569 OMIM: 125647 No Reported Evidence - 05/23/2017
EFEMP2 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 604633 Moderate - 12/22/2016
EGLN1 Hereditary pheochromocytoma-paraganglioma 29072 606425 Moderate - 06/22/2017
EGLN2 Hereditary pheochromocytoma-paraganglioma 29072 606424 Limited - 06/22/2017
ELAC2 Combined oxidative phosphorylation deficiency N/A 615440 Moderate -
ELMOD3 Nonsyndromic sensorineural hearing loss 90636 615429 Limited - 05/04/2017
ENG Colorectal cancer/Polyposis Susceptibility ORPHA329971 N/A Limited - 12/11/2017
EPAS1 Hereditary pheochromocytoma-paraganglioma 29072 603349 Contradictory (disputed) - 06/22/2017
EPCAM Hereditary breast cancer ORPHA227535 N/A No Reported Evidence - 04/12/2017
EPCAM Lynch Syndrome ORPHA144 613244 Definitive - 09/11/2017
EPHX1 Colorectal cancer Susceptibility ORPHA443909 N/A Limited - 11/08/2016
EPS8 nonsyndromic sensorineural deafness ORPHA90636 615974 Moderate - 04/26/2017
EVC Ellis-van Creveld syndrome ORPHA:289 225500 Definitive - 02/06/2018
EVC2 Ellis-van Creveld syndrome ORPHA:289 225500 Definitive - 02/06/2018
EXO1 Colorectal cancer Susceptibility ORPHA443909 N/A Contradictory (disputed) - 06/08/2017
FAM65B Nonsyndromic sensorineural hearing loss ORPHA90636 616515 Strong - 02/06/2017
FAN1 Colorectal cancer Susceptibility ORPHA443909 N/A Limited - 10/23/2017
FBN1 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 134797 Definitive - 01/23/2017
FBN2 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 612570 Limited - 12/22/2016
FGD1 Aarskog-Scott Syndrome 915 305400 Definitive - 12/06/2017
FGFR3 Achondroplasia ORPHA15 100800 Definitive - 12/01/2016
FH Hereditary pheochromocytoma-paraganglioma 29072 136850 Moderate - 06/22/2017
FLNA Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 300017 Limited - 12/22/2016
FLNC Myofibrillar myopathy ORPHA171445 609524 Definitive - 12/12/2017
FOLR1 Neurodegeneration Due to Cerebral Folate Transport Deficiency 217382 613068 Definitive - 10/20/2017
FOXE3 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 601094 Moderate - 06/15/2016
FTSJ1 Non-Syndromic X-Linked Intellectual Disability 777 309549 Moderate - 01/17/2018
FXN Friedreich ataxia ORPHA95 229300 Definitive - 12/22/2017
GAA Glycogen storage disease type II ORPHA:365 OMIM:232300 Definitive - 09/21/2017
GALNT12 Colorectal cancer Susceptibility ORPHA443909 608812 Limited - 06/08/2017
GDI1 Non-Syndromic X-Linked Intellectual Disability 777 302910 Moderate - 05/24/2018
GDNF Hereditary pheochromocytoma-paraganglioma 29072 600837 Limited - 07/22/2017
GEN1 Hereditary breast cancer ORPHA227535 N/A Contradictory (disputed) - 12/13/2017
GEN1 Familial ovarian cancer ORPHA213517 N/A No Reported Evidence - 01/11/2017
GJB2 Nonsyndromic sensorineural hearing loss 90636 220290 Definitive - 03/02/2017
GJB2 Hearing Loss with/without Skin Findings N/A N/A Definitive - 06/26/2018
GLA Fabry disease ORPHA:324 OMIM:301500 Definitive - 01/19/2018
GPD1L Brugada Syndrome ORPHA:130 601144 Contradictory (disputed) -
GREM1 Hereditary Mixed Polyposis Syndrome ORPHA157794 601228 Strong - 10/11/2016
GRIA3 X-Linked Syndromic Intellectual Disability 777 300104 Limited - 10/20/2017
HCN4 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 605206 Limited - 12/22/2016
HCN4 Brugada Syndrome ORPHA:130 601144 Contradictory (disputed) -
HNRNPK Au-Kline Syndrome ORPHA453499 616580 Moderate - 11/15/2016
HPRT1 Lesch-Nyhan syndrome 510 300322 Definitive - 03/07/2018
HRAS Costello Syndrome ORPHA:3071 218040 Definitive - 06/13/2017
HUWE1 Syndromic X-Linked Intellectual Disability 777 300849 Definitive - 10/20/2017
IDS Mucopolysaccharidosis Type II 580 309900 Definitive - 02/21/2018
IL1RAPL1 Non-Syndromic X-Linked Intellectual Disability 777 300143 Definitive - 01/03/2018
JPH2 Hypertrophic cardiomyopathy N/A 613873 Moderate - 07/18/2017
KCNA2 Infantile Epilepsy Syndrome 442835 176262 Strong - 10/20/2017
KCND3 Brugada Syndrome ORPHA:130 601144 Contradictory (disputed) -
KCNE3 Brugada Syndrome ORPHA:130 601144 Contradictory (disputed) -
KCNE5 Brugada Syndrome ORPHA:130 601144 Contradictory (disputed) -
KCNH2 Brugada Syndrome ORPHA130 601144 Contradictory (disputed) - 11/21/2017
KCNJ8 Brugada Syndrome ORPHA:130 601144 Contradictory (disputed) -
KCNQ1 Hypertrophic cardiomyopathy ORPHA217569 N/A No Reported Evidence - 01/31/2017
KCNT1 Childhood-Onset Epilepsy Syndrome 293181 608167 Definitive -
KIF1B Hereditary pheochromocytoma-paraganglioma 29072 605995 Limited - 06/22/2017
KLF10 Hypertrophic cardiomyopathy ORPHA217569 N/A Limited - 08/01/2017
KLHL24 Epidermolysis bullosa simplex, generalized, with scarring and hair loss N/A 617294 Strong -
KLHL40 Severe congenital nemaline myopathy N/A 615348 Definitive -
KMT2D Hereditary pheochromocytoma-paraganglioma 29072 602113 Limited - 06/22/2017
KRAS Noonan syndrome ORPHA648 609942 Definitive - 06/20/2017
KRAS Costello syndrome ORPHA3071 218040 No Reported Evidence - 11/27/2017
LAMB1 Lissencephaly ORPHA352682 615191 Moderate - 11/15/2016
LAMP2 Danon disease ORPHA34587 300257 Definitive - 10/11/2017
LBR Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia ORPHA448267 N/A Moderate - 12/01/2016
LOX Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 153455 Strong - 07/25/2016
LRPAP1 Myopia N/A 615431 Moderate -
LRTOMT Nonsyndromic sensorineural hearing loss ORPHA90636 611451 Definitive - 02/15/2017
MAP2K1 Cardiofaciocutaneous syndrome ORPHA1340 615279 Definitive - 11/27/2017
MAP2K1 Costello syndrome ORPHA3071 218040 No Reported Evidence - 11/27/2017
MAP2K2 Noonan syndrome with multiple lentigines (NSML) ORPHA500 151100 No Reported Evidence - 11/27/2017
MAP2K2 Cardiofaciocutaneous syndrome ORPHA1340 615280 Definitive - 11/27/2017
MAT2A Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 601468 Limited - 07/03/2016
MAX Hereditary pheochromocytoma-paraganglioma 29072 154950 Definitive - 06/22/2017
MCM2 nonsyndromic sensorineural deafness 90635 616968 Limited - 01/04/2018
MCPH1 Hereditary breast cancer ORPHA227535 N/A Limited - 01/11/2017
MCPH1 Familial ovarian cancer ORPHA213517 N/A No Reported Evidence - 01/11/2017
MDH2 Hereditary pheochromocytoma-paraganglioma 29072 154100 Limited - 06/22/2017
MED12 MED12-Related Intellectual Disability Syndrome N/A N/A Definitive - 04/18/2018
MEN1 Hereditary pheochromocytoma-paraganglioma 29072 131100 Moderate - 06/22/2017
MERTK Hereditary pheochromocytoma-paraganglioma 29072 604705 Limited - 06/22/2017
MET Hereditary pheochromocytoma-paraganglioma 29072 164860 Limited - 06/02/2017
MFAP5 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 601103 Moderate - 12/22/2016
MID1 X-linked Opitz G/BB syndrome 306597 300000 Definitive - 03/21/2018
MITF Hereditary pheochromocytoma-paraganglioma 29072 156845 Limited - 06/22/2017
MLH1 Hereditary breast cancer ORPHA227535 N/A Contradictory (disputed) - 06/14/2017
MLH1 Lynch Syndrome ORPHA144 609310 Definitive - 07/10/2017
MLH3 Colorectal cancer Susceptibility ORPHA443909 614385 Moderate - 02/14/2017
MRE11A Hereditary breast cancer ORPHA227535 N/A Contradictory (disputed) - 10/25/2017
MRE11A Familial ovarian cancer ORPHA213517 N/A Contradictory (disputed) - 10/25/2017
MSH2 Lynch Syndrome ORPHA144 120435 Definitive - 09/11/2017
MSH2 Hereditary breast cancer ORPHA227535 N/A Contradictory (disputed) - 10/11/2017
MSH3 Polyposis susceptibility ORPHA480536 617100 Moderate - 12/13/2016
MSH3 Colorectal cancer Susceptibility ORPHA443909 N/A Limited - 11/13/2017
MSH6 Hereditary breast cancer ORPHA227535 N/A Contradictory (disputed) - 07/26/2017
MSH6 Lynch Syndrome ORPHA144 614350 Definitive - 09/25/2017
MUTYH (AD) Hereditary breast cancer ORPHA227535 N/A No Reported Evidence - 05/25/2017
MUTYH (AD) Familial ovarian cancer ORPHA213517 N/A Limited - 11/29/2017
MUTYH (AD) Colorectal cancer Susceptibility ORPHA247798 N/A Moderate - 10/09/2017
MUTYH (AR) MUTYH associated Polyposis ORPHA247798 608456 Definitive - 06/12/2017
MUTYH (AR) Hereditary breast cancer ORPHA227535 N/A No Reported Evidence - 05/24/2017
MUTYH (AR) Familial ovarian cancer ORPHA213517 N/A Limited - 11/29/2017
MYBPC3 Hypertrophic cardiomyopathy N/A 115197 Definitive - 09/05/2017
MYH11 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 160745 Definitive - 07/03/2016
MYH6 Hypertrophic cardiomyopathy ORPHA:217569 OMIM:160710 Limited - 11/01/2017
MYH7 Hypertrophic cardiomyopathy ORPHA:217569 OMIM:192600 Definitive - 12/02/2017
MYL2 Hypertrophic cardiomyopathy ORPHA217569 608758 Definitive - 02/07/2017
MYL3 Hypertrophic cardiomyopathy ORPHA217569 608751 Definitive - 10/04/2016
MYLK Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 600922 Strong - 12/18/2016
MYLK2 Hypertrophic cardiomyopathy ORPHA217569 192600 Limited - 04/18/2017
MYO9A Arthrogryposis ORPHA109007 N/A Limited - 11/24/2016
MYOM1 Hypertrophic cardiomyopathy N/A 603508 Limited - 06/20/2017
MYOZ2 Hypertrophic cardiomyopathy N/A 605602 Limited - 06/20/2017
MYPN Hypertrophic cardiomyopathy ORPHA217569 615248 Limited - 06/05/2017
NARS2 nonsyndromic sensorineural hearing loss N/A 607197 Limited - 12/19/2017
NBN Hereditary breast cancer ORPHA227535 N/A Limited - 09/27/2017
NBN Familial ovarian cancer ORPHA2132517 N/A Limited - 09/27/2017
NDP Norrie Disease 649 300658 Definitive - 03/21/2018
NEXN Hypertrophic cardiomyopathy ORPHA217569 613876 Limited - 11/01/2016
NF1 Hereditary pheochromocytoma-paraganglioma 29072 162200 Definitive - 06/22/2017
NF1 Familial ovarian cancer ORPHA213517 N/A No Reported Evidence - 02/22/2017
NF2 Neurofibromatosis, Type 2 N/A 101000 Definitive - 03/01/2017
NFKBIZ Colorectal cancer Susceptibility ORPHA443909 N/A Limited - 07/10/2017
NGLY1 Alacrimia-choreoathetosis-liver dysfunction syndrome ORPHA404454 615273 Definitive - 12/01/2016
NHP2 Dyskeratosis Congenita ORPHA1775 613987 Limited - 01/25/2017
NHS Nance-Horan Syndrome 627 302350 Definitive - 10/20/2017
NOTCH1 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 190198 Limited - 04/06/2016
NRAS Noonan Syndrome ORPHA648 613224 Definitive - 05/26/2017
NTHL1 Colorectal cancer/Polyposis Susceptibility ORPHA454840 616415 Moderate - 06/08/2017
OBSCN Hypertrophic cardiomyopathy N/A 608616 Limited - 02/07/2017
OFD1 Ciliopathy N/A 300170 Definitive - 04/04/2018
OTOF Nonsyndromic sensorineural hearing loss (auditory neuropathy) ORPHA90636 601071 Definitive - 01/30/2017
PALB2 Hereditary breast cancer ORPHA227535 114480 Definitive - 12/01/2016
PALB2 Familial ovarian cancer ORPHA213517 N/A Moderate - 11/08/2017
PALB2 Colorectal cancer Susceptibility ORPHA443909 N/A Limited - 03/12/2018
PCDH15 Usher syndrome type 1 ORPHA231169 602083 Definitive - 02/15/2017
PDLIM3 Hypertrophic cardiomyopathy N/A 605889 Limited - 11/01/2016
PDZD7 Nonsyndromic sensorineural hearing loss ORPHA90636 612971 Definitive - 04/26/2017
PHF6 Borjeson-Forssman-Lehmann syndrome 127 301900 Definitive - 02/21/2018
PIK3CA Hereditary breast cancer ORPHA227535 N/A No Reported Evidence - 02/08/2017
PIK3CA Familial ovarian cancer ORPHA213517 N/A No Reported Evidence - 02/08/2017
PKD1 Autosomal dominant polycystic kidney disease N/A 173900 Definitive - 03/24/2018
PKP2 Arrhythmogenic Right Ventricular Cardiomyopathy N/A 609040 Definitive - 03/08/2017
PKP2 Brugada Syndrome ORPHA:130 601144 Contradictory (disputed) -
PLN Intrinsic cardiomyopathy ORPHA167848 N/A Definitive - 09/19/2017
PLP1 Pelizaeus-Merzbacher disease 280219 312080 Definitive - 03/07/2018
PMS1 Colorectal cancer Susceptibility ORPHA144 N/A Contradictory (refuted) - 05/22/2017
PMS2 Pancreatic cancer N/A N/A No Reported Evidence - 12/01/2016
PMS2 Lynch Syndrome ORPHA144 614337 Definitive - 06/26/2017
PMS2 Hereditary breast cancer ORPHA227535 N/A Contradictory (disputed) - 11/08/2017
PNPT1 Nonsyndromic sensorineural hearing loss ORPHA90636 614934 Limited - 02/23/2017
POLD1 Colorectal cancer/Polyposis Susceptibility ORPHA:447877 612591 Definitive - 04/10/2017
POLE Colorectal cancer/Polyposis Susceptibility ORPHA447877 615083 Definitive - 12/11/2017
PRKAG2 Hypertrophic cardiomyopathy ORPHA217569 600858 Definitive - 01/30/2017
PRKG1 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 176894 Strong - 12/22/2016
PSD3 Antecubital pterygium syndrome ORPHA2987 178200 Limited - 11/24/2016
PTEN PTEN Hamartoma Tumor Syndrome ORPHA306498 601728 Definitive - 10/09/2017
PTEN Familial ovarian cancer ORPHA213217 N/A Contradictory (disputed) - 12/13/2017
PTPN11 Noonan syndrome with multiple lentigines (NSML) ORPHA500 151100 Definitive - 05/25/2017
PTPN11 Noonan syndrome ORPHA648 163950 Definitive - 05/25/2017
PTPRQ Nonsyndromic sensorineural hearing loss ORPHA90636 603317 Definitive - 02/23/2017
RAD50 Hereditary breast cancer ORPHA227535 N/A Limited - 12/14/2016
RAD50 Familial ovarian cancer ORPHA213517 N/A Contradictory (disputed) - 10/26/2016
RAD51C Fanconi anemia ORPHA84 613390 Moderate - 01/05/2017
RAD51C Hereditary breast cancer ORPHA227535 N/A Contradictory (disputed) - 05/10/2017
RAD51C Familial ovarian cancer ORPHA213517 N/A Definitive - 04/12/2017
RAD51D Hereditary breast cancer ORPHA227535 N/A Limited - 11/08/2017
RAD51D Familial ovarian cancer ORPHA213517 N/A Definitive - 10/11/2017
RAF1 Noonan Syndrome ORPHA648 611553 Definitive - 06/20/2017
RANGRF Brugada Syndrome ORPHA:130 601144 Contradictory (disputed) -
RASA1 Noonan Syndrome ORPHA648 163950 No Reported Evidence - 12/04/2017
RECQL Hereditary breast cancer ORPHA227535 N/A Moderate - 09/28/2016
RECQL Familial ovarian cancer ORPHA213517 N/A No Reported Evidence - 09/14/2016
RET Hereditary pheochromocytoma-paraganglioma 29072 164761 Definitive - 06/22/2017
RINT1 Hereditary breast cancer ORPHA227535 N/A Contradictory (disputed) - 09/26/2016
RINT1 Familial ovarian cancer ORPHA213517 N/A No Reported Evidence - 09/14/2016
RIT1 Noonan Syndrome ORPHA648 615355 Definitive - 06/13/2017
RNF43 Sessile Serrated Polyposis Cancer Syndrome ORPHA157798 617108 Limited - 10/23/2017
RPE65 Leber Congenital Amaurosis/Retinitis Pigmentosa ORPHA:65 204100 Definitive - 02/13/2018
RPE65 Retinitis Pigmentosa ORPHA:791 613794 Moderate - 03/05/2018
RPL10 X-linked Syndromic Intellectual Disability N/A 300998 Limited - 04/04/2018
RPS10 Diamond-Blackfan anemia ORPHA124 613308 Definitive - 01/19/2017
RPS20 Colorectal cancer Susceptibility ORPHA443909 N/A Limited - 06/08/2017
RPS24 Diamond-Blackfan anemia ORPHA124 610629 Definitive - 01/19/2017
RYR2 Catecholaminergic Polymorphic Ventricular Tachycardia N/A 604772 Definitive - 03/08/2017
RYR2 Hypertrophic cardiomyopathy ORPHA: 217569 N/A Limited - 04/02/2018
S1PR2 Nonsyndromic sensorineural hearing loss ORPHA90636 610419 Strong - 03/02/2017
SCN10A Brugada Syndrome ORPHA:130 601144 Contradictory (disputed) -
SCN1B Brugada Syndrome ORPHA:130 601144 Contradictory (disputed) -
SCN2B Brugada Syndrome ORPHA:130 601144 Contradictory (disputed) -
SCN3B Brugada Syndrome ORPHA:130 601144 Contradictory (disputed) -
SCN4B Long QT Syndrome ORPHA768 611819 Limited - 12/15/2016
SCN5A Brugada Syndrome ORPHA:130 601144 Definitive -
SDHA Hereditary pheochromocytoma-paraganglioma 29072 600857 Definitive - 06/22/2017
SDHAF2 Hereditary pheochromocytoma-paraganglioma 29072 613019 Definitive - 06/22/2017
SDHB Hereditary pheochromocytoma-paraganglioma 29072 185470 Definitive - 06/22/2017
SDHC Hereditary pheochromocytoma-paraganglioma 29072 602413 Definitive - 06/22/2017
SDHD Hereditary pheochromocytoma-paraganglioma 29072 602690 Definitive - 06/22/2017
SEMA4A Colorectal cancer Susceptibility ORPHA443909 N/A Limited - 11/13/2017
SHOC2 Noonan-like disorder with loose anagen hair ORPHA2701 607721 Definitive - 06/20/2017
SKI Shprintzen-Goldberg syndrome ORPHA2462 182212 Definitive - 12/01/2016
SLC25A4 Mitochondrial syndrome N/A 615418 Definitive -
SLC2A10 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 606145 Limited - 04/17/2016
SLMAP Brugada Syndrome ORPHA:130 601144 Contradictory (disputed) -
SLX4 Hereditary breast cancer ORPHA227535 N/A Limited - 03/08/2017
SLX4 Familial ovarian cancer ORPHA213517 N/A No Reported Evidence - 03/08/2017
SMAD2 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 601366 Moderate - 04/10/2017
SMAD3 Aneurysm-osteoarthritis syndrome ORPHA284984 613795 Definitive - 12/01/2016
SMAD3 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 603109 Definitive - 12/22/2016
SMAD4 Juvenile Polyposis Syndrome ORPHA329971 174900 Definitive - 06/26/2017
SMARCA1 Coffin-Siris syndrome ORPHA:1465 N/A Moderate - 11/15/2016
SMARCA4 Colorectal cancer Susceptibility ORPHA443909 N/A Limited - 05/08/2017
SOS1 Noonan Syndrome ORPHA648 610733 Definitive - 06/20/2017
STK11 Familial ovarian cancer ORPHA213517 N/A No Reported Evidence - 10/26/2016
STK11 Peutz-Jeghers syndrome ORPHA2869 175200 Definitive - 02/22/2017
SYP Non-Syndromic X-Linked Intellectual Disability 777 300802 Limited - 12/20/2017
TCAP Hypertrophic cardiomyopathy ORPHA217569 607487 Limited - 04/10/2017
TGFB2 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 190220 Definitive - 05/06/2016
TGFB3 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 190230 Limited - 12/22/2016
TGFBR1 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 190181 Definitive - 10/12/2016
TGFBR2 Familial thoracic aortic aneurysm and aortic dissection ORPHA91387 190182 Definitive - 02/15/2016
TMC1 Nonsyndromic sensorineural hearing loss ORPHA90636 600974 Definitive - 02/15/2017
TMEM127 Hereditary pheochromocytoma-paraganglioma 29072 613403 Definitive - 06/22/2017
TMEM132E nonsyndromic sensorineural deafness ORPHA90636 N/A Limited - 11/21/2017
TMPO Familial or idiopathic dilated cardiomyopathy ORPHA154 613740 Contradictory (refuted) - 11/30/2016
TMPO Hypertrophic cardiomyopathy ORPHA217569 N/A No Reported Evidence - 04/04/2017
TNNC1 Hypertrophic cardiomyopathy ORPHA217569 613243 Moderate - 11/01/2016
TNNC2 Hypertrophic cardiomyopathy ORPHA217569 191039 No Reported Evidence - 04/04/2017
TNNI3 Hypertrophic cardiomyopathy ORPHA217569 613690 Definitive - 09/05/2017
TNNT2 Hypertrophic cardiomyopathy ORPHA217569 115195 Definitive - 11/07/2017
TP53 Familial ovarian cancer ORPHA213517 N/A Limited - 01/10/2018
TP53 Li-Fraumeni syndrome ORPHA524 151623 Definitive - 01/10/2018
TPM1 Hypertrophic cardiomyopathy ORPHA217569 115196 Definitive - 12/20/2016
TRIM63 Hypertrophic cardiomyopathy N/A 606131 Limited - 12/20/2016
TRIOBP nonsyndromic sensorineural deafness ORPHA90636 609823 Definitive - 06/06/2017
TRPM4 Brugada Syndrome ORPHA:130 601144 Contradictory (disputed) -
TSC1 Tuberous sclerosis N/A 191100 Definitive - 03/01/2017
TSC2 Tuberous sclerosis N/A 191100 Definitive - 03/08/2017
TSPAN7 Non-Syndromic X-Linked Intellectual Disability 777 300210 Limited - 02/08/2018
TTN Hypertrophic cardiomyopathy ORPHA: 217569 OMIM: 191039 Limited - 12/14/2017
TTR Hereditary ATTR amyloidosis ORPHA271861 N/A Definitive - 12/11/2017
USH1C Usher syndrome type 1 ORPHA231169 276904 Definitive - 02/15/2017
USH1G Usher syndrome type 1 ORPHA231169 606943 Definitive - 02/15/2017
USH2A Usher syndrome type 2 ORPHA231178 276901 Definitive - 02/15/2017
VCL Hypertrophic cardiomyopathy ORPHA217569 613255 Limited - 06/01/2017
VHL Hereditary pheochromocytoma-paraganglioma 29072 608537 Definitive - 06/16/2017
VPS8 Arthrogryposis ORPHA1037 108120 Limited - 11/24/2016
WHRN Usher syndrome type 2 ORPHA231178 611383 Definitive - 05/10/2017
WRAP53 Dyskeratosis Congenita ORPHA1775 613988 Moderate - 01/25/2017
XRCC2 Hereditary breast cancer ORPHA227535 N/A Limited - 05/10/2017
XRCC2 Familial ovarian cancer ORPHA213517 N/A No Reported Evidence - 04/26/2017
XRCC4 Colorectal cancer Susceptibility ORPHA443909 N/A Limited - 05/08/2017
*Final classification upgraded after expert review