Gene Validity Curations

Gene Validity Curations

Curation Count: 575 | Download Summary
Gene Disease curated SOP Classification Released
A2ML1 Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/07/2018
A2ML1 cardiofaciocutaneous syndrome SOP5 No Reported Evidence 06/07/2018
A2ML1 Costello syndrome SOP5 No Reported Evidence 06/07/2018
A2ML1 Noonan syndrome SOP5 Disputed 06/07/2018
A2ML1 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 06/07/2018
ABCC9 hypertrichotic osteochondrodysplasia Cantu type SOP4 Definitive 09/27/2017
ABCD1 X-linked cerebral adrenoleukodystrophy SOP4 Definitive 02/07/2018
ABHD12 PHARC syndrome SOP6 Definitive 09/28/2018
ACAT1 beta-ketothiolase deficiency SOP5 Definitive 06/19/2018
ACSL4 non-syndromic X-linked intellectual disability SOP4 Moderate 10/20/2017
ACTA1 hypertrophic cardiomyopathy SOP4 No Reported Evidence
ACTA2 familial thoracic aortic aneurysm and aortic dissection SOP4 Definitive 09/27/2016
ACTC1 hypertrophic cardiomyopathy SOP4 Definitive 10/23/2017
ACTN1 sciatica SOP5 Limited 06/07/2018
ACTN1 acral peeling skin syndrome SOP6 Limited 02/28/2019
ACTN2 intrinsic cardiomyopathy SOP5 Moderate 08/06/2018
ACTN2 night blindness SOP5 Limited 06/25/2018
ADCY1 autosomal recessive nonsyndromic deafness SOP4 Limited 05/10/2017
ADGRV1 Usher syndrome type 2C SOP4 Definitive 02/15/2017
AFF2 FRAXE intellectual disability SOP4 Definitive 10/20/2017
AGTR2 non-syndromic X-linked intellectual disability SOP5 Limited 08/21/2018
AGTR2 non-syndromic X-linked intellectual disability SOP5 Refuted 06/14/2018
AGTR2 non-syndromic X-linked intellectual disability SOP5 Limited 04/30/2018
AKAP9 long QT syndrome 11 SOP4 Limited 12/15/2016
ALMS1 Alstrom syndrome SOP4 Definitive 02/10/2017
ALPK3 hypertrophic cardiomyopathy SOP4 Strong 02/07/2017
ANK2 Brugada syndrome SOP4 Disputed
ANKRD1 hypertrophic cardiomyopathy SOP4 Limited 09/18/2017
AP1S2 non-syndromic X-linked intellectual disability SOP4 Definitive 10/20/2017
APC APC-related attenuated familial adenomatous polyposis SOP4 Definitive 09/11/2017
AQP5 palmoplantar keratoderma, Bothnian type SOP6 Moderate 09/30/2018
ARHGEF6 non-syndromic X-linked intellectual disability SOP5 Limited 06/28/2018
ARHGEF6 non-syndromic X-linked intellectual disability SOP6 Limited 03/26/2019
ARHGEF9 epilepsy SOP5 Strong 06/25/2018
ARL2BP retinitis pigmentosa with or without situs inversus SOP5 Limited 07/06/2018
ATF6 achromatopsia 7 SOP4 Strong 11/16/2016
ATM hereditary nonpolyposis colon cancer SOP4 Moderate 08/28/2017
ATM hereditary breast carcinoma SOP4 Definitive 07/12/2017
ATM familial ovarian cancer SOP4 Limited 07/12/2017
ATP7A Menkes disease SOP4 Definitive 02/07/2018
ATRX X-linked intellectual disability-hypotonic face syndrome SOP4 Definitive 02/07/2018
AXIN2 oligodontia-cancer predisposition syndrome SOP4 Moderate 06/08/2017
BAG3 myofibrillar myopathy (disease) SOP4 Definitive 12/18/2016
BAP1 hereditary pheochromocytoma-paraganglioma SOP4 Limited 07/22/2017
BARD1 familial ovarian cancer SOP4 Limited 08/09/2017
BARD1 hereditary breast carcinoma SOP4 Definitive 08/09/2017
BARD1 hereditary nonpolyposis colon cancer SOP4 Limited 06/08/2017
BCS1L Bjornstad syndrome SOP5 Definitive 07/11/2018
BDNF congenital central hypoventilation syndrome SOP5 Refuted 04/25/2018
BDP1 autosomal recessive nonsyndromic deafness SOP5 Limited 06/13/2018
BGN familial thoracic aortic aneurysm and aortic dissection SOP4 Limited 12/22/2016
BMPR1A generalized juvenile polyposis/juvenile polyposis coli SOP4 Definitive 06/12/2017
BRAF Noonan syndrome SOP5 Moderate 07/24/2018
BRAF cardiofaciocutaneous syndrome SOP5 Definitive 07/24/2018
BRAF Costello syndrome SOP5 Disputed 07/24/2018
BRAF Noonan syndrome with multiple lentigines SOP5 Limited 07/24/2018
BRAF Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 07/25/2018
BRCA1 breast-ovarian cancer, familial, susceptibility to, 1 SOP4 Definitive 09/13/2017
BRCA1 green mud crab allergy SOP5 Strong 06/23/2018
BRCA1 gastrointestinal mucositis SOP4 Limited 01/31/2018
BRCA2 breast-ovarian cancer, familial, susceptibility to, 2 SOP4 Definitive 09/13/2017
BRIP1 hereditary breast carcinoma SOP4 Refuted 05/10/2017
BRIP1 familial ovarian cancer SOP4 Definitive 10/12/2016
BSND Bartter disease type 4a SOP5 Definitive 07/12/2018
C1QB immunodeficiency due to a classical component pathway complement deficiency SOP4 Definitive 01/09/2017
CACNA1C Brugada syndrome SOP4 Disputed
CACNA1H generalised epilepsy SOP5 Disputed 07/31/2018
CACNA1H generalised epilepsy SOP5 Moderate 06/25/2018
CACNA1S malignant hyperthermia, susceptibility to, 5 SOP5 Moderate 06/20/2018
CACNA2D1 Brugada syndrome 1 SOP4 Disputed
CACNB2 hypertrophic cardiomyopathy SOP4 No Reported Evidence
CACNB2 Brugada syndrome 1 SOP4 Disputed
CACNB4 epilepsy SOP5 Disputed 06/22/2018
CALR3 hypertrophic cardiomyopathy SOP5 Limited 08/06/2018
CASQ2 hypertrophic cardiomyopathy SOP4 No Reported Evidence 01/17/2017
CCDC50 autosomal dominant nonsyndromic deafness SOP5 Limited 07/03/2018
CD164 autosomal dominant nonsyndromic deafness 66 SOP4 Limited 03/20/2018
CD164 autosomal dominant nonsyndromic deafness SOP5 Limited 05/23/2018
CD3E severe combined immunodeficiency (disease) SOP4 Definitive 01/09/2017
CD3E T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta SOP5 Limited 06/20/2018
CDH1 hereditary nonpolyposis colon cancer SOP4 Limited 06/08/2017
CDH1 hereditary diffuse gastric adenocarcinoma SOP4 Definitive 01/25/2017
CDH1 familial ovarian cancer SOP4 No Reported Evidence 08/03/2017
CDH23 Usher syndrome type 1 SOP4 Definitive 01/30/2017
CDKL5 CDKL5 disorder SOP5 Definitive 07/02/2018
CDKN1B hereditary nonpolyposis colon cancer SOP4 Limited 06/08/2017
CEACAM16 nonsyndromic genetic deafness SOP6 Moderate 09/30/2018
CEP78 cone-rod dystrophy and hearing loss; CRDHL SOP4 Strong 04/12/2017
CHD1L congenital anomaly of kidney and urinary tract SOP4 Limited 11/18/2016
CHD2 complex neurodevelopmental disorder SOP5 Definitive 07/18/2018
CHD2 arrhythmogenic right ventricular cardiomyopathy SOP6 Limited 12/12/2018
CHD2 early infantile epileptic encephalopathy SOP6 Limited 12/10/2018
CHD7 CHARGE syndrome SOP5 Definitive 06/28/2018
CHD8 autism spectrum disorder SOP5 Definitive 07/16/2018
CHEK1 familial ovarian cancer SOP4 No Reported Evidence 10/12/2016
CHEK1 hereditary breast carcinoma SOP4 No Reported Evidence 10/12/2016
CHEK2 familial ovarian cancer SOP4 Disputed 12/14/2016
CHEK2 hereditary nonpolyposis colon cancer SOP4 Limited 03/13/2017
CHEK2 hereditary breast carcinoma SOP4 Definitive 12/14/2016
CIB2 autosomal recessive nonsyndromic deafness SOP5 Definitive 07/26/2018
CLCN4 non-syndromic X-linked intellectual disability SOP4 Definitive 10/20/2017
CLIC5 autosomal recessive nonsyndromic deafness SOP4 Moderate 11/21/2017
CLRN1 Usher syndrome type 3 SOP4 Definitive 03/02/2017
COCH nonsyndromic genetic deafness SOP6 Definitive 09/28/2018
COL11A2 autosomal recessive nonsyndromic deafness SOP5 Limited 06/12/2018
COL11A2 Stickler syndrome SOP5 Definitive 06/12/2018
COL11A2 autosomal dominant nonsyndromic deafness SOP5 Limited 06/12/2018
COL11A2 Stickler syndrome SOP5 Moderate 06/25/2018
COL2A1 spondyloepiphyseal dysplasia, Stanescu type SOP4 Moderate 12/01/2016
COL3A1 familial thoracic aortic aneurysm and aortic dissection SOP4 Definitive 03/14/2016
COL4A6 deafness, X-linked 6 SOP6 Limited 09/28/2018
COL9A1 Stickler syndrome SOP4 Limited 03/26/2018
COL9A2 Stickler syndrome SOP5 Limited 06/14/2018
COX15 Leigh syndrome SOP4 Strong
CPT2 carnitine palmitoyltransferase II deficiency SOP5 Definitive 05/08/2018
CREBBP Rubinstein-Taybi syndrome due to CREBBP mutations SOP4 Definitive 02/21/2018
CRYM autosomal dominant nonsyndromic deafness 40 SOP4 Limited
CSRP3 hypertrophic cardiomyopathy 12 SOP4 Moderate 12/19/2017
CTCF intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome SOP4 Moderate
CTNNA1 hereditary nonpolyposis colon cancer SOP4 No Reported Evidence 04/24/2017
CUL4B X-linked intellectual disability, Cabezas type SOP5 Definitive 04/27/2018
CUL9 8p inverted duplication/deletion syndrome SOP4 Moderate 07/31/2018
DAO amyotrophic lateral sclerosis SOP5 Limited 06/20/2018
DAO amyotrophic lateral sclerosis SOP5 Limited 06/24/2018
DCDC2 nonsyndromic genetic deafness SOP6 Limited 09/26/2018
DES myofibrillar myopathy 1 SOP4 Definitive 08/25/2017
DIABLO autosomal dominant nonsyndromic deafness 64 SOP5 Limited 07/05/2018
DIAPH1 diaph1-related sensorineural hearing loss-thrombocytopenia syndrome SOP6 Definitive 09/05/2018
DIAPH3 auditory neuropathy SOP6 Moderate 09/28/2018
DICER1 pleuropulmonary blastoma SOP4 Definitive 01/08/2017
DICER1 intellectual disability-myopathy-short stature-endocrine defect syndrome SOP5 Limited 06/10/2018
DICER1 baylisascariasis SOP5 Limited 06/23/2018
DICER1 arrhythmogenic right ventricular cardiomyopathy SOP5 Limited 06/21/2018
DICER1 crustacean allergy SOP6 No Reported Evidence 02/28/2019
DICER1 congenital heart defects, multiple types, 2 SOP6 Limited 02/26/2019
DMXL2 autosomal recessive nonsyndromic deafness SOP4 Moderate 02/06/2017
DNM1 early infantile epileptic encephalopathy SOP4 Definitive 12/13/2016
DNMT1 autosomal dominant cerebellar ataxia, deafness and narcolepsy SOP4 Definitive 02/10/2017
DSP hypertrophic cardiomyopathy SOP4 No Reported Evidence 05/23/2017
EDN3 Waardenburg syndrome type 4B SOP5 Moderate 05/30/2018
EDN3 Waardenburg syndrome type 4B SOP5 Limited 05/30/2018
EFEMP2 familial thoracic aortic aneurysm and aortic dissection SOP4 Moderate 12/22/2016
EFHC1 juvenile myoclonic epilepsy SOP5 Disputed 07/27/2018
EGLN1 hereditary pheochromocytoma-paraganglioma SOP4 Moderate 06/22/2017
EGLN2 hereditary pheochromocytoma-paraganglioma SOP4 Limited 06/22/2017
EHMT1 Kleefstra syndrome SOP5 Definitive 06/11/2018
ELAC2 combined oxidative phosphorylation defect type 17 SOP4 Moderate
ELMOD3 autosomal recessive nonsyndromic deafness 88 SOP4 Limited 05/04/2017
ENG generalized juvenile polyposis/juvenile polyposis coli SOP4 Limited 12/11/2017
EPAS1 hereditary pheochromocytoma-paraganglioma SOP4 Disputed 06/22/2017
EPCAM colorectal cancer, hereditary nonpolyposis, type 8 SOP4 Definitive 09/11/2017
EPCAM hereditary breast carcinoma SOP4 No Reported Evidence 04/12/2017
EPHX1 hereditary nonpolyposis colon cancer SOP4 Limited 11/08/2016
EPS8 autosomal recessive nonsyndromic deafness SOP4 Moderate 04/26/2017
EPS8L2 autosomal recessive nonsyndromic deafness SOP5 Moderate 07/19/2018
ESPN nonsyndromic genetic deafness SOP6 Definitive 09/30/2018
ESRP1 hearing loss disorder SOP6 Limited 03/28/2019
EVC Ellis-van Creveld syndrome SOP4 Definitive 02/06/2018
EVC2 Ellis-van Creveld syndrome SOP4 Definitive 02/06/2018
EXO1 hereditary nonpolyposis colon cancer SOP4 Disputed 06/08/2017
EXT1 exostoses, multiple, type 1 SOP5 Definitive 06/04/2018
EYA4 autosomal dominant nonsyndromic deafness SOP5 Definitive 07/27/2018
FAN1 hereditary nonpolyposis colon cancer SOP4 Limited 10/23/2017
FBN1 familial thoracic aortic aneurysm and aortic dissection SOP4 Definitive 01/23/2017
FBN2 familial thoracic aortic aneurysm and aortic dissection SOP4 Limited 12/22/2016
FGD1 Aarskog-Scott syndrome, X-linked SOP4 Definitive 12/06/2017
FGF3 deafness with labyrinthine aplasia, microtia, and microdontia SOP6 Definitive 03/28/2019
FGFR3 achondroplasia SOP4 Definitive 12/01/2016
FH hereditary pheochromocytoma-paraganglioma SOP4 Moderate 06/22/2017
FLAD1 myopathy with abnormal lipid metabolism SOP5 Strong 06/25/2018
FLCN Birt-Hogg-Dube syndrome SOP5 Definitive 06/04/2018
FLNA familial thoracic aortic aneurysm and aortic dissection SOP4 Limited 12/22/2016
FLNC myofibrillar myopathy 5 SOP4 Definitive 12/12/2017
FOLR1 neurodegenerative syndrome due to cerebral folate transport deficiency SOP5 Definitive 04/27/2018
FOXE3 familial thoracic aortic aneurysm and aortic dissection SOP4 Moderate 06/15/2016
FOXG1 FOXG1 disorder SOP5 Definitive 07/02/2018
FOXI1 horned turban snail allergy SOP6 Limited 01/09/2019
FTSJ1 non-syndromic X-linked intellectual disability SOP5 Moderate 04/27/2018
FXN Friedreich ataxia SOP4 Definitive 12/22/2017
GAA glycogen storage disease II SOP4 Definitive 09/21/2017
GALNT12 colorectal cancer, susceptibility to, 1 SOP4 Limited 06/08/2017
GCH1 dopa-responsive dystonia SOP5 Definitive 06/26/2018
GDI1 non-syndromic X-linked intellectual disability SOP4 Moderate 05/24/2018
GDNF hereditary pheochromocytoma-paraganglioma SOP4 Limited 07/22/2017
GEN1 familial ovarian cancer SOP4 No Reported Evidence 01/11/2017
GEN1 hereditary breast carcinoma SOP4 Disputed 12/13/2017
GIPC3 autosomal recessive nonsyndromic deafness SOP5 Strong 06/08/2018
GJB2 autosomal recessive nonsyndromic deafness SOP4 Limited 09/07/2018
GLA Fabry disease SOP4 Definitive 01/19/2018
GPD1L Brugada syndrome 1 SOP4 Disputed
GREM1 hereditary mixed polyposis syndrome SOP4 Strong 10/11/2016
GRIA3 non-syndromic X-linked intellectual disability SOP4 Limited 10/20/2017
GRIN2D infantile epilepsy syndrome SOP5 Limited 07/06/2018
GRXCR2 autosomal recessive nonsyndromic deafness SOP5 Limited 06/08/2018
GSDME autosomal dominant nonsyndromic deafness SOP5 Definitive 07/19/2018
HARS Usher syndrome type 3 SOP5 Refuted 06/25/2018
HCN4 familial thoracic aortic aneurysm and aortic dissection SOP4 Limited 12/22/2016
HCN4 Brugada syndrome 1 SOP4 Disputed
HGF autosomal recessive nonsyndromic deafness 39 SOP5 Moderate 06/15/2018
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase deficiency SOP5 Definitive 06/19/2018
HNRNPK neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome SOP4 Moderate 11/15/2016
HPRT1 Lesch-Nyhan syndrome SOP4 Definitive 03/07/2018
HRAS Noonan syndrome SOP5 No Reported Evidence 07/24/2018
HRAS cardiofaciocutaneous syndrome SOP5 No Reported Evidence 07/24/2018
HRAS Costello syndrome SOP5 Definitive 07/24/2018
HRAS Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 07/24/2018
HRAS Noonan syndrome-like disorder with loose anagen hair SOP5 Disputed 07/25/2018
HRG thrombophilia SOP5 Strong 06/21/2018
HSD17B4 Perrault syndrome SOP6 Definitive 09/30/2018
HUWE1 non-syndromic X-linked intellectual disability SOP4 Definitive 10/20/2017
IDS mucopolysaccharidosis type 2 SOP5 Moderate 06/11/2018
IL1RAPL1 intellectual disability, X-linked 21 SOP4 Definitive 01/03/2018
ILDR1 autosomal recessive nonsyndromic deafness 42 SOP5 Definitive 08/02/2018
JPH2 hypertrophic cardiomyopathy 17 SOP4 Moderate 07/18/2017
KARS nonsyndromic genetic deafness SOP6 Limited 09/28/2018
KCNA2 undetermined early-onset epileptic encephalopathy SOP4 Strong 10/20/2017
KCND3 Brugada syndrome 1 SOP4 Disputed
KCNE3 Brugada syndrome SOP4 Disputed
KCNE5 Brugada syndrome SOP4 Disputed
KCNH2 Brugada syndrome SOP4 Disputed 11/21/2017
KCNJ8 Brugada syndrome 1 SOP4 Disputed
KCNQ1 hypertrophic cardiomyopathy SOP4 No Reported Evidence 04/04/2017
KCNQ1 hypertrophic cardiomyopathy SOP4 No Reported Evidence 01/31/2017
KCNQ2 undetermined early-onset epileptic encephalopathy SOP5 Definitive 06/14/2018
KCNQ4 autosomal dominant nonsyndromic deafness SOP6 Definitive 09/30/2018
KCNT1 malignant migrating partial seizures of infancy SOP4 Definitive
KIF1B hereditary pheochromocytoma-paraganglioma SOP4 Limited 06/22/2017
KIRREL3 intellectual disability, autosomal dominant 4 SOP6 Limited 09/30/2018
KLF10 hypertrophic cardiomyopathy SOP4 Limited 08/01/2017
KLHL24 epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH SOP4 Strong
KLHL40 nemaline myopathy 8 SOP4 Definitive
KMT2D hereditary pheochromocytoma-paraganglioma SOP4 Limited 06/22/2017
KRAS Costello syndrome SOP5 Disputed 07/24/2018
KRAS Noonan syndrome SOP5 Definitive 07/24/2018
KRAS Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 07/24/2018
KRAS cardiofaciocutaneous syndrome SOP5 Strong 07/24/2018
KRAS Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 07/25/2018
LAMB1 cobblestone lissencephaly without muscular or ocular involvement SOP4 Moderate 11/15/2016
LAMP2 Danon disease SOP4 Definitive 10/11/2017
LARS2 Perrault syndrome SOP5 Strong 06/27/2018
LARS2 Perrault syndrome SOP5 Strong 06/25/2018
LBR regressive spondylometaphyseal dysplasia SOP4 Moderate 12/01/2016
LOX familial thoracic aortic aneurysm and aortic dissection SOP4 Strong 07/25/2016
LRPAP1 myopia 23, autosomal recessive SOP4 Moderate
LRTOMT autosomal recessive nonsyndromic deafness 63 SOP4 Definitive 02/15/2017
LZTR1 cardiofaciocutaneous syndrome SOP5 No Reported Evidence 06/01/2018
LZTR1 Costello syndrome SOP5 No Reported Evidence 06/04/2018
LZTR1 Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/04/2018
LZTR1 Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/06/2018
LZTR1 cardiofaciocutaneous syndrome SOP5 No Reported Evidence 06/06/2018
LZTR1 Noonan syndrome SOP5 Limited 07/24/2018
LZTR1 Costello syndrome SOP5 No Reported Evidence 06/06/2018
LZTR1 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 06/06/2018
LZTR1 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 06/05/2018
LZTR1 Noonan syndrome SOP5 Strong 07/25/2018
MAGI2 infantile epilepsy syndrome SOP5 Disputed 06/26/2018
MAP2K1 Noonan syndrome SOP5 Limited 07/24/2018
MAP2K1 Costello syndrome SOP5 Disputed 07/24/2018
MAP2K1 Noonan syndrome with multiple lentigines SOP5 Limited 05/29/2018
MAP2K1 cardiofaciocutaneous syndrome SOP5 Definitive 05/29/2018
MAP2K1 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 07/25/2018
MAP2K2 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 05/29/2018
MAP2K2 cardiofaciocutaneous syndrome SOP5 Definitive 07/24/2018
MAP2K2 Costello syndrome SOP5 No Reported Evidence 05/29/2018
MAP2K2 Noonan syndrome SOP5 Limited 06/01/2018
MAP2K2 Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 05/29/2018
MARVELD2 nonsyndromic genetic deafness SOP6 Definitive 09/12/2018
MAT2A familial thoracic aortic aneurysm and aortic dissection SOP4 Limited 07/03/2016
MAX hereditary pheochromocytoma-paraganglioma SOP4 Definitive 06/22/2017
MCM2 autosomal dominant nonsyndromic deafness 70 SOP4 Limited 01/04/2018
MCPH1 familial ovarian cancer SOP4 No Reported Evidence 01/11/2017
MCPH1 hereditary breast carcinoma SOP4 Limited 01/11/2017
MDH2 hereditary pheochromocytoma-paraganglioma SOP4 Limited 06/22/2017
MECP2 Rett syndrome SOP5 Definitive 05/02/2018
MED12 MED12-related intellectual disability syndrome SOP5 Definitive 04/27/2018
MEN1 multiple endocrine neoplasia type 1 SOP5 Definitive 06/19/2018
MERTK hereditary pheochromocytoma-paraganglioma SOP4 Limited 06/22/2017
MET hereditary pheochromocytoma-paraganglioma SOP4 Limited 06/02/2017
MET nonsyndromic genetic deafness SOP6 Limited 09/30/2018
MFAP5 familial thoracic aortic aneurysm and aortic dissection SOP4 Moderate 12/22/2016
MID1 X-linked Opitz G/BBB syndrome SOP5 Strong 06/14/2018
MITF hereditary pheochromocytoma-paraganglioma SOP4 Limited 06/22/2017
MITF Waardenburg syndrome type 2 SOP5 Definitive 07/26/2018
MLH1 hereditary breast carcinoma SOP4 Disputed 06/14/2017
MLH1 colorectal cancer, hereditary nonpolyposis, type 2 SOP4 Definitive 07/10/2017
MLH3 hereditary nonpolyposis colon cancer SOP4 Moderate 02/14/2017
MRAS Costello syndrome SOP5 No Reported Evidence 06/06/2018
MRAS Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/06/2018
MRAS cardiofaciocutaneous syndrome SOP5 No Reported Evidence 06/06/2018
MRAS Noonan syndrome SOP5 Limited 06/06/2018
MRAS Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 06/06/2018
MRE11 hereditary breast carcinoma SOP4 Disputed 10/25/2017
MRE11 familial ovarian cancer SOP4 Disputed 10/25/2017
MSH2 Lynch syndrome SOP4 Definitive 09/11/2017
MSH2 hereditary breast carcinoma SOP4 Disputed 10/11/2017
MSH3 MSH3-related attenuated familial adenomatous polyposis SOP4 Moderate 12/13/2016
MSH3 hereditary nonpolyposis colon cancer SOP4 Limited 11/13/2017
MSH6 Lynch syndrome SOP4 Definitive 09/25/2017
MSH6 hereditary breast carcinoma SOP4 Disputed 07/26/2017
MSRB3 autosomal recessive nonsyndromic deafness 74 SOP5 Definitive 06/21/2018
MUTYH hereditary breast carcinoma SOP4 No Reported Evidence 05/24/2017
MUTYH hereditary breast carcinoma SOP4 No Reported Evidence 05/25/2017
MUTYH familial ovarian cancer SOP4 Limited 11/29/2017
MUTYH MUTYH-related attenuated familial adenomatous polyposis SOP4 Moderate 10/09/2017
MUTYH MUTYH-related attenuated familial adenomatous polyposis SOP4 Definitive 06/12/2017
MUTYH familial ovarian cancer SOP4 Limited 11/29/2017
MYBPC3 hypertrophic cardiomyopathy 4 SOP4 Definitive 09/05/2017
MYH11 familial thoracic aortic aneurysm and aortic dissection SOP4 Definitive 07/03/2016
MYH6 hypertrophic cardiomyopathy SOP4 Limited 11/01/2017
MYH7 hypertrophic cardiomyopathy SOP4 Definitive 12/02/2017
MYH9 MYH-9 related disease SOP5 Definitive 07/17/2018
MYL2 hypertrophic cardiomyopathy 10 SOP4 Definitive 02/07/2017
MYL3 hypertrophic cardiomyopathy SOP4 Definitive 10/04/2016
MYL3 arrhythmogenic right ventricular cardiomyopathy SOP6 Limited 03/28/2019
MYLK familial thoracic aortic aneurysm and aortic dissection SOP4 Strong 12/18/2016
MYLK2 hypertrophic cardiomyopathy SOP4 Limited 04/18/2017
MYO1A autosomal dominant nonsyndromic deafness SOP5 Refuted 07/05/2018
MYO1C autosomal dominant nonsyndromic deafness SOP5 Disputed 06/28/2018
MYO6 autosomal dominant nonsyndromic deafness SOP5 Strong 06/18/2018
MYO7A Usher syndrome type 1 SOP5 Definitive 06/29/2018
MYO9A arthrogryposis syndrome SOP4 Limited 11/24/2016
MYOM1 hypertrophic cardiomyopathy SOP5 Limited 08/01/2018
MYOZ2 hypertrophic cardiomyopathy SOP5 Limited 08/01/2018
MYPN hypertrophic cardiomyopathy SOP4 Limited 06/05/2017
NADK2 progressive encephalopathy with leukodystrophy due to DECR deficiency SOP5 Moderate 05/08/2018
NARS2 nonsyndromic genetic deafness SOP6 Limited 09/30/2018
NBN hereditary breast carcinoma SOP4 Limited 09/27/2017
NDP Norrie disease SOP4 Definitive 03/21/2018
NEXN hypertrophic cardiomyopathy 20 SOP4 Limited 11/01/2016
NF1 familial ovarian cancer SOP4 No Reported Evidence 02/22/2017
NF1 hereditary pheochromocytoma-paraganglioma SOP4 Definitive 06/22/2017
NF2 neurofibromatosis type 2 SOP4 Definitive 03/01/2017
NFKBIZ hereditary nonpolyposis colon cancer SOP4 Limited 07/10/2017
NGLY1 endometrial mixed adenocarcinoma SOP5 Moderate 06/20/2018
NGLY1 NGLY1-deficiency SOP5 Moderate 06/10/2018
NHP2 dyskeratosis congenita, autosomal recessive 2 SOP4 Limited 01/25/2017
NHS Nance-Horan syndrome SOP4 Definitive 10/20/2017
NIPBL Cornelia de Lange syndrome SOP5 Definitive 06/20/2018
NLGN4X complex neurodevelopmental disorder SOP5 Definitive 08/13/2018
NLRP12 familial cold autoinflammatory syndrome 2 SOP6 Moderate 03/28/2019
NOTCH1 familial thoracic aortic aneurysm and aortic dissection SOP4 Limited 04/06/2016
NRAS cardiofaciocutaneous syndrome SOP5 Limited 07/24/2018
NRAS Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 05/30/2018
NRAS Costello syndrome SOP5 Limited 07/24/2018
NRAS Noonan syndrome SOP5 Definitive 05/30/2018
NRAS Noonan syndrome with multiple lentigines SOP5 Limited 05/30/2018
NTHL1 NTHL1-related attenuated familial adenomatous polyposis SOP4 Moderate 06/08/2017
OBSCN hypertrophic cardiomyopathy SOP5 Limited 08/06/2018
OFD1 ciliopathy SOP6 Disputed 09/25/2018
OTOF autosomal recessive nonsyndromic deafness 9 SOP4 Definitive 01/30/2017
OTOG autosomal recessive nonsyndromic deafness SOP5 Definitive 06/28/2018
OTOGL autosomal recessive nonsyndromic deafness SOP5 Definitive 07/27/2018
P2RX2 nonsyndromic genetic deafness SOP6 Limited 09/30/2018
PAK3 X-linked syndromic intellectual disability SOP4 Definitive 07/31/2018
PALB2 familial ovarian cancer SOP4 Moderate 11/08/2017
PALB2 hereditary nonpolyposis colon cancer SOP4 Limited 03/12/2018
PALB2 hereditary breast carcinoma SOP4 Definitive 12/01/2016
PALB2 fish allergy SOP6 Strong 03/07/2019
PCBD1 dehydratase deficiency SOP5 Definitive 06/19/2018
PCDH15 Usher syndrome type 1 SOP4 Definitive 02/15/2017
PDLIM3 hypertrophic cardiomyopathy SOP5 Limited 08/06/2018
PDZD7 autosomal recessive nonsyndromic deafness SOP4 Definitive 04/26/2017
PHF6 Borjeson-Forssman-Lehmann syndrome SOP5 Definitive 04/27/2018
PIK3CA hereditary breast carcinoma SOP4 No Reported Evidence 02/08/2017
PIK3CA familial ovarian cancer SOP4 No Reported Evidence 02/08/2017
PIK3R1 SHORT syndrome SOP5 Definitive 07/06/2018
PKD1 polycystic kidney disease 1 SOP4 Definitive 03/24/2018
PKP2 Brugada syndrome 1 SOP4 Disputed
PKP2 arrhythmogenic right ventricular dysplasia 9 SOP4 Definitive 03/08/2017
PLN cardiomyopathy SOP4 Definitive 09/19/2017
PLP1 Pelizaeus-Merzbacher disease SOP4 Definitive 03/07/2018
PMS1 Lynch syndrome SOP4 Refuted 05/22/2017
PMS2 hereditary breast carcinoma SOP4 Disputed 11/08/2017
PMS2 Lynch syndrome SOP4 Definitive 06/26/2017
PNPT1 autosomal recessive nonsyndromic deafness SOP4 Limited 02/23/2017
POLD1 Polymerase proofreading-related adenomatous polyposis SOP4 Definitive 04/10/2017
POLE Polymerase proofreading-related adenomatous polyposis SOP4 Definitive 12/11/2017
POU3F4 nonsyndromic genetic deafness SOP6 Definitive 09/04/2018
POU4F3 nonsyndromic genetic deafness SOP6 Definitive 09/30/2018
PPP1CB cardiofaciocutaneous syndrome SOP5 No Reported Evidence 06/05/2018
PPP1CB Noonan syndrome SOP5 No Reported Evidence 07/24/2018
PPP1CB Costello syndrome SOP5 No Reported Evidence 06/05/2018
PPP1CB Noonan syndrome-like disorder with loose anagen hair SOP5 Strong 07/25/2018
PPP1CB Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/05/2018
PRDM6 patent ductus arteriosus 3 SOP5 Definitive 06/23/2018
PRKAG2 hypertrophic cardiomyopathy SOP4 Definitive 01/30/2017
PRKG1 familial thoracic aortic aneurysm and aortic dissection SOP4 Strong 12/22/2016
PSD3 antecubital pterygium syndrome SOP4 Limited 11/24/2016
PTCH1 nevoid basal cell carcinoma syndrome SOP5 Definitive 06/04/2018
PTCHD1 non-syndromic X-linked intellectual disability SOP6 Definitive 09/30/2018
PTEN PTEN hamartoma tumor syndrome SOP4 Definitive 10/09/2017
PTPN11 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 05/31/2018
PTPN11 Noonan syndrome with multiple lentigines SOP5 Definitive 07/25/2018
PTPN11 Noonan syndrome SOP5 Definitive 07/24/2018
PTPN11 cardiofaciocutaneous syndrome SOP5 Disputed 05/30/2018
PTPN11 Costello syndrome SOP5 Disputed 07/24/2018
PTPRQ autosomal recessive nonsyndromic deafness SOP4 Definitive 02/23/2017
RAB28 cone-rod dystrophy 18 SOP6 Limited 09/30/2018
RAD50 familial ovarian cancer SOP4 Disputed 10/26/2016
RAD50 hereditary breast carcinoma SOP4 Limited 12/14/2016
RAD51C familial ovarian cancer SOP4 Definitive 04/12/2017
RAD51C hereditary breast carcinoma SOP4 Disputed 05/10/2017
RAD51C Fanconi anemia SOP5 Limited 06/21/2018
RAD51D hereditary breast carcinoma SOP4 Limited 11/08/2017
RAD51D familial ovarian cancer SOP4 Definitive 10/11/2017
RAF1 cardiofaciocutaneous syndrome SOP5 Disputed 05/31/2018
RAF1 Noonan syndrome with multiple lentigines SOP5 Limited 07/25/2018
RAF1 Noonan syndrome SOP5 Definitive 07/24/2018
RAF1 Costello syndrome SOP5 Disputed 07/24/2018
RAF1 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 05/31/2018
RANGRF Brugada syndrome SOP4 Disputed
RASA1 Noonan syndrome SOP5 Disputed 06/07/2018
RASA1 cardiofaciocutaneous syndrome SOP5 No Reported Evidence 06/07/2018
RASA1 Costello syndrome SOP5 No Reported Evidence 06/07/2018
RASA1 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 06/07/2018
RASA1 Noonan syndrome-like disorder with loose anagen hair SOP4 No Reported Evidence 04/29/2018
RASA1 Noonan syndrome with multiple lentigines SOP6 No Reported Evidence 09/20/2018
RASA2 Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/07/2018
RASA2 Costello syndrome SOP5 No Reported Evidence 06/07/2018
RASA2 cardiofaciocutaneous syndrome SOP5 No Reported Evidence 06/07/2018
RASA2 Noonan syndrome SOP5 Limited 07/24/2018
RASA2 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 06/07/2018
RDX autosomal recessive nonsyndromic deafness SOP5 Definitive 07/19/2018
RECQL familial ovarian cancer SOP4 No Reported Evidence 09/14/2016
RECQL hereditary breast carcinoma SOP4 Moderate 09/28/2016
RET hereditary pheochromocytoma-paraganglioma SOP4 Definitive 06/22/2017
RET multiple endocrine neoplasia type 2B SOP5 Definitive 06/25/2018
RINT1 hereditary breast carcinoma SOP4 Disputed 09/26/2016
RINT1 familial ovarian cancer SOP4 No Reported Evidence 09/14/2016
RIPOR2 autosomal recessive nonsyndromic deafness SOP5 Strong 06/23/2018
RIT1 Costello syndrome SOP5 No Reported Evidence 07/24/2018
RIT1 Noonan syndrome SOP5 Definitive 07/24/2018
RIT1 cardiofaciocutaneous syndrome SOP5 No Reported Evidence 05/31/2018
RIT1 Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 05/31/2018
RIT1 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 05/31/2018
RNF43 sessile serrated polyposis cancer syndrome; SSPCS SOP4 Limited 10/23/2017
ROR1 autosomal recessive nonsyndromic deafness SOP5 Limited 05/23/2018
RPE65 Leber congenital amaurosis SOP4 Definitive 02/13/2018
RPE65 retinitis pigmentosa SOP4 Moderate 03/05/2018
RPL10 X-linked syndromic intellectual disability SOP5 Limited 04/27/2018
RPS10 Diamond-Blackfan anemia 9 SOP4 Definitive 01/19/2017
RPS20 hereditary nonpolyposis colon cancer SOP4 Limited 06/08/2017
RPS24 Diamond-Blackfan anemia SOP4 Definitive 01/19/2017
RRAS Costello syndrome SOP5 No Reported Evidence 06/06/2018
RRAS Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/06/2018
RRAS cardiofaciocutaneous syndrome SOP5 No Reported Evidence 06/06/2018
RRAS Noonan syndrome SOP5 Limited 07/24/2018
RRAS Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 06/06/2018
RUNX1 hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome SOP5 Definitive 06/04/2018
RYR2 catecholaminergic polymorphic ventricular tachycardia 1 SOP4 Definitive 03/08/2017
RYR2 hypertrophic cardiomyopathy SOP4 Limited 04/02/2018
RYR3 undetermined early-onset epileptic encephalopathy SOP5 Limited 06/28/2018
S1PR2 autosomal recessive nonsyndromic deafness 68 SOP4 Strong 03/02/2017
SCN10A Brugada syndrome 1 SOP4 Disputed
SCN1B Brugada syndrome 1 SOP4 Disputed
SCN2B Brugada syndrome 1 SOP4 Disputed
SCN3B Brugada syndrome 1 SOP4 Disputed
SCN4B familial long QT syndrome SOP4 Limited 12/15/2016
SCN5A Brugada syndrome SOP4 Definitive
SCN5A arrhythmogenic right ventricular cardiomyopathy SOP6 Limited 03/26/2019
SCN8A undetermined early-onset epileptic encephalopathy SOP4 Definitive 10/20/2017
SCN8A complex neurodevelopmental disorder SOP5 Definitive 07/18/2018
SCN9A epilepsy SOP5 Limited 06/18/2018
SDHA hereditary pheochromocytoma-paraganglioma SOP4 Definitive 06/22/2017
SDHAF2 hereditary pheochromocytoma-paraganglioma SOP4 Definitive 06/22/2017
SDHB hereditary pheochromocytoma-paraganglioma SOP4 Definitive 06/22/2017
SDHC hereditary pheochromocytoma-paraganglioma SOP4 Definitive 06/22/2017
SDHD hereditary pheochromocytoma-paraganglioma SOP4 Definitive 06/22/2017
SEMA4A hereditary nonpolyposis colon cancer SOP4 Limited 11/13/2017
SERPINB8 exfoliative ichthyosis SOP5 Limited 07/06/2018
SHOC2 Noonan syndrome SOP5 Disputed 05/31/2018
SHOC2 Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/01/2018
SHOC2 Costello syndrome SOP5 Disputed 07/24/2018
SHOC2 cardiofaciocutaneous syndrome SOP5 Disputed 06/01/2018
SHOC2 Noonan syndrome-like disorder with loose anagen hair SOP5 Definitive 07/25/2018
SIX1 branchio-oto-renal syndrome SOP5 Definitive 07/18/2018
SKI Shprintzen-Goldberg syndrome SOP4 Definitive 12/01/2016
SLC16A2 Allan-Herndon-Dudley syndrome SOP5 Definitive 08/09/2018
SLC25A20 carnitine-acylcarnitine translocase deficiency SOP5 Definitive 06/19/2018
SLC25A4 mitochondrial DNA depletion syndrome 12 SOP4 Definitive
SLC26A1 nephrolithiasis SOP5 Limited 06/14/2018
SLC26A4 Pendred syndrome SOP5 Definitive 08/02/2018
SLC26A5 autosomal recessive nonsyndromic deafness 61 SOP5 Limited 07/25/2018
SLC2A10 familial thoracic aortic aneurysm and aortic dissection SOP4 Limited 04/17/2016
SLC9A6 Christianson syndrome SOP5 Definitive 05/02/2018
SLITRK6 high myopia-sensorineural deafness syndrome SOP5 Strong 05/23/2018
SLMAP Brugada syndrome SOP4 Disputed
SLX4 hereditary breast carcinoma SOP4 Limited 03/08/2017
SLX4 familial ovarian cancer SOP4 No Reported Evidence 03/08/2017
SMAD2 familial thoracic aortic aneurysm and aortic dissection SOP4 Moderate 04/10/2017
SMAD3 familial thoracic aortic aneurysm and aortic dissection SOP4 Definitive 12/22/2016
SMAD3 aneurysm-osteoarthritis syndrome SOP4 Definitive 12/01/2016
SMAD3 Greenberg dysplasia SOP5 Definitive 07/31/2018
SMAD3 brown shrimp allergy SOP5 Limited 06/11/2018
SMAD3 arrhythmogenic right ventricular cardiomyopathy SOP4 Disputed 09/11/2018
SMAD3 brown shrimp allergy SOP5 Strong 06/27/2018
SMAD3 arrhythmogenic right ventricular cardiomyopathy SOP5 Strong 06/22/2018
SMAD3 brown shrimp allergy SOP5 Limited 08/06/2018
SMAD3 arrhythmogenic right ventricular cardiomyopathy SOP6 Limited 09/30/2018
SMAD3 blue color blindness SOP5 Moderate 07/11/2018
SMAD3 familial isolated hypoparathyroidism due to impaired PTH secretion SOP6 Limited 10/31/2018
SMAD3 arrhythmogenic right ventricular cardiomyopathy SOP5 Limited 08/09/2018
SMAD3 arrhythmogenic right ventricular cardiomyopathy SOP5 Moderate 09/28/2018
SMAD4 generalized juvenile polyposis/juvenile polyposis coli SOP4 Definitive 06/26/2017
SMARCA1 Coffin-Siris syndrome SOP4 Moderate 11/15/2016
SMARCA4 hereditary nonpolyposis colon cancer SOP4 Limited 05/08/2017
SMARCA4 rhabdoid tumor predisposition syndrome 2 SOP5 Definitive 06/29/2018
SOS1 Noonan syndrome SOP5 Definitive 07/24/2018
SOS1 Costello syndrome SOP5 Disputed 07/24/2018
SOS1 cardiofaciocutaneous syndrome SOP5 Disputed 06/01/2018
SOS1 Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/01/2018
SOS1 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 06/01/2018
SOS2 cardiofaciocutaneous syndrome SOP5 No Reported Evidence 06/06/2018
SOS2 Noonan syndrome with multiple lentigines SOP5 No Reported Evidence 06/06/2018
SOS2 Costello syndrome SOP5 No Reported Evidence 06/06/2018
SOS2 Noonan syndrome-like disorder with loose anagen hair SOP5 No Reported Evidence 06/06/2018
SOS2 Noonan syndrome SOP5 Moderate 07/25/2018
SRPX2 rolandic epilepsy-speech dyspraxia syndrome SOP5 Disputed 07/19/2018
STK11 Peutz-Jeghers syndrome SOP4 Definitive 02/22/2017
STK11 familial ovarian cancer SOP4 No Reported Evidence 10/26/2016
STXBP1 infantile epilepsy syndrome SOP5 Definitive 06/01/2018
SYP non-syndromic X-linked intellectual disability SOP4 Limited 12/20/2017
TBC1D24 autosomal dominant nonsyndromic deafness SOP5 Limited 05/23/2018
TCAP hypertrophic cardiomyopathy SOP4 Limited 04/10/2017
TCF4 Pitt-Hopkins syndrome SOP5 Definitive 05/02/2018
TGFB2 familial thoracic aortic aneurysm and aortic dissection SOP4 Definitive 05/06/2016
TGFB3 familial thoracic aortic aneurysm and aortic dissection SOP4 Limited 12/22/2016
TGFBR1 familial thoracic aortic aneurysm and aortic dissection SOP4 Definitive 10/12/2016
TGFBR2 familial thoracic aortic aneurysm and aortic dissection SOP4 Definitive 02/15/2016
TMC1 autosomal dominant nonsyndromic deafness 36 SOP5 Definitive 07/16/2018
TMC1 autosomal recessive nonsyndromic deafness 7 SOP4 Definitive 02/15/2017
TMC1 autosomal dominant nonsyndromic deafness 36 SOP5 Strong 06/14/2018
TMEM127 hereditary pheochromocytoma-paraganglioma SOP4 Definitive 06/22/2017
TMEM132E autosomal recessive nonsyndromic deafness SOP4 Limited 11/21/2017
TMPO familial isolated dilated cardiomyopathy SOP4 Refuted 11/30/2016
TMPO hypertrophic cardiomyopathy SOP5 No Reported Evidence 08/01/2018
TNC autosomal dominant nonsyndromic deafness SOP5 Limited 06/18/2018
TNNC1 hypertrophic cardiomyopathy SOP4 Moderate 11/01/2016
TNNC2 hypertrophic cardiomyopathy SOP4 No Reported Evidence 04/04/2017
TNNI3 hypertrophic cardiomyopathy SOP4 Definitive 09/05/2017
TNNT2 hypertrophic cardiomyopathy SOP4 Definitive 11/07/2017
TP53 Li-Fraumeni syndrome SOP4 Definitive 01/10/2018
TP53 familial ovarian cancer SOP4 Limited 01/10/2018
TP53 pseudohypoaldosteronism type 2C SOP4 Limited 07/31/2018
TPM1 hypertrophic cardiomyopathy SOP4 Definitive 12/20/2016
TRIM63 hypertrophic cardiomyopathy SOP5 Limited 08/01/2018
TRIOBP autosomal recessive nonsyndromic deafness SOP4 Definitive 06/06/2017
TRPM4 Brugada syndrome SOP4 Disputed
TSC1 tuberous sclerosis 1 SOP4 Definitive 03/01/2017
TSC2 tuberous sclerosis 1 SOP4 Definitive 03/08/2017
TSPAN7 intellectual disability, X-linked 58 SOP4 Limited 02/08/2018
TTN hypertrophic cardiomyopathy SOP4 Limited 12/14/2017
TTR hereditary ATTR amyloidosis SOP4 Definitive 12/11/2017
UBE2A syndromic X-linked intellectual disability Nascimento type SOP4 Definitive 09/10/2018
UBE3A Angelman syndrome SOP5 Definitive 05/02/2018
UBR1 Johanson-Blizzard syndrome SOP4 Definitive 09/02/2018
USH1C Usher syndrome type 1 SOP4 Definitive 02/15/2017
USH1G Usher syndrome type 1 SOP4 Definitive 02/15/2017
USH2A Usher syndrome type 2 SOP4 Definitive 02/15/2017
VCL hypertrophic cardiomyopathy SOP4 Limited 06/01/2017
VHL hereditary pheochromocytoma-paraganglioma SOP4 Definitive 06/16/2017
VPS13B Cohen syndrome SOP4 Definitive 09/10/2018
VPS8 arthrogryposis multiplex congenita SOP4 Limited 11/24/2016
WFS1 Wolfram syndrome SOP6 Definitive 09/28/2018
WHRN Usher syndrome type 2D SOP4 Definitive 05/10/2017
WHRN autosomal recessive nonsyndromic deafness SOP5 Limited 06/14/2018
WRAP53 dyskeratosis congenita SOP4 Moderate 01/25/2017
WT1 Wilms tumor type 1 SOP5 Definitive 06/23/2018
XRCC2 hereditary breast carcinoma SOP4 Limited 05/10/2017
XRCC2 familial ovarian cancer SOP4 No Reported Evidence 04/26/2017
XRCC4 hereditary nonpolyposis colon cancer SOP4 Limited 05/08/2017
YWHAB hyperthyroxinemia, familial dysalbuminemic SOP6 Limited 09/26/2018
ZEB2 Mowat-Wilson syndrome SOP5 Definitive 05/24/2018
ZNF687 Paget disease of bone 6; PDB6 SOP5 Moderate 06/14/2018
ZNF81 non-syndromic X-linked intellectual disability SOP5 Disputed 06/28/2018