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Clinical Genomics Program (Stanford Medicine), CGP

General information

Clinical Genomics Program, CGP
Stanford Medicine
900 Welch Road Suite 15, Ground Floor
Palo Alto
California
United States - 94305

Organization ID: 507411

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 206

Gene

GeneSubmissionsLast Updated
ABCA32Aug 7, 2020
ACADVL1Mar 7, 2024
ACSF31Jan 25, 2024
ACTB1Jan 9, 2024
ADSL1Aug 10, 2020
AGL2Mar 26, 2024
AHDC11Aug 7, 2020
AKAP91Apr 11, 2024
ALDH5A11Oct 25, 2023
ALMS14Apr 9, 2024
ALPK33Mar 26, 2024
AMPD14Nov 3, 2023
ANK21Mar 15, 2024
ARID1A1Aug 19, 2020
ARID1B2Dec 12, 2023
ATRX1Jan 19, 2024
BPTF1Aug 10, 2020
BRCA21Aug 10, 2020
BTD2Jan 25, 2024
CACNA1A1Aug 7, 2020
CACNA1D1Apr 10, 2024
CAP21Mar 28, 2024
CBL1Aug 7, 2020
CDH232Dec 12, 2023
CEP1042Jan 25, 2024
CLCN41Aug 10, 2020
CNOT11Nov 8, 2023
COL3A11Aug 10, 2020
COL4A11Oct 25, 2023
COL4A51Nov 8, 2023
CPT21Mar 26, 2024
CSNK2A11Nov 2, 2023
CTCF1Nov 3, 2023
CTNNB11Jan 9, 2024
DDX3X1Aug 10, 2020
DEAF11Aug 7, 2020
DSP3Apr 10, 2024
DYRK1A1Aug 10, 2020
EARS21Nov 2, 2023
ELAC21Apr 10, 2024
FANCA2Oct 25, 2023
FGFR21Aug 10, 2020
FGFR31Aug 7, 2020
FHOD32Mar 15, 2024
FKRP1Mar 18, 2024
FLNA2Jan 19, 2024
FLNC2Mar 26, 2024
GALT1Nov 8, 2023
GINS12Aug 10, 2020
GJB22Jan 18, 2024
GLA1Aug 10, 2020
GNB12Aug 10, 2020
GRIA21Jan 4, 2024
GRIN12Nov 13, 2023
GRIN2B2Nov 13, 2023
HDAC21Aug 27, 2020
HFE2Mar 26, 2024
HFE-AS11Mar 18, 2024
IQSEC21Nov 8, 2023
IRF2BPL1Aug 11, 2020
JPH21Apr 9, 2024
KANSL11Aug 10, 2020
KAT6A1Aug 10, 2020
KCNA21Aug 7, 2020
KCNH21Apr 11, 2024
KCNJ21Mar 28, 2024
KDM5B1Jan 25, 2024
KMT2A3Nov 13, 2023
KMT2D4Nov 13, 2023
LDLR2Jan 19, 2024
LIX1L-AS11Jan 25, 2024
LMNA1Mar 26, 2024
LOC1079880321Jan 19, 2024
LOC1082811771Aug 7, 2020
LOC1124862231Oct 25, 2023
LOC1148278501Mar 28, 2024
LOC1268058511Jan 25, 2024
LOC1268066591Jan 9, 2024
LOC1299305611Mar 26, 2024
LOC1299967451Aug 10, 2020
LOC1299987881Apr 11, 2024
LOC1300655871Aug 10, 2020
LRBA2Nov 8, 2023
LZTR11Feb 7, 2024
MAB21L21Aug 7, 2020
MAP2K11Apr 9, 2024
MAPK8IP31Aug 10, 2020
MAST11Aug 10, 2020
MBD51Nov 3, 2023
MEA11Aug 10, 2020
MECP21Aug 10, 2020
MED12L1Jan 25, 2024
MED13L1Jan 25, 2024
MEF2C1Aug 7, 2020
MMACHC1Nov 13, 2023
MTOR1Aug 10, 2020
MYBPC33Mar 18, 2024
MYH73Apr 11, 2024
MYL21Mar 28, 2024
MYLK21Apr 9, 2024
MYO61Aug 10, 2020
NBAS1Aug 19, 2020
NCAPH21Feb 5, 2024
NFASC2Aug 10, 2020
NOG1Aug 19, 2020
NR2F11Jan 4, 2024
NR2F1-AS11Jan 4, 2024
NSD21Aug 10, 2020
OFD11Aug 7, 2020
P2RY121Jan 25, 2024
PHIP1Aug 10, 2020
PKP21Apr 10, 2024
POGZ1Aug 7, 2020
PPA21Mar 4, 2024
PPOX1Aug 10, 2020
PPP2R5D1Aug 10, 2020
PRDM161Apr 10, 2024
PSAP1Aug 27, 2020
PSAT12Aug 10, 2020
PTCHD11Jan 25, 2024
PUF601Aug 10, 2020
PURA1Aug 10, 2020
RBM203Mar 28, 2024
RBM8A1Jan 25, 2024
RELN1Oct 25, 2023
RET1Nov 2, 2023
RNASEH2B1Aug 10, 2020
RPL36A-HNRNPH21Aug 10, 2020
RPS71Aug 10, 2020
SAMD9L1Aug 7, 2020
SCN10A1Apr 9, 2024
SCN3A2Jan 19, 2024
SCO21Feb 5, 2024
SDHA1Mar 27, 2024
SETD51Aug 10, 2020
SLC22A54Mar 27, 2024
SLC6A82Aug 10, 2020
SMAD21Aug 7, 2020
SMARCA41Aug 10, 2020
SMC1A1Aug 10, 2020
SNRPB1Aug 11, 2020
SOS11Mar 26, 2024
SOS22Apr 9, 2024
SOX21Aug 7, 2020
SOX2-OT1Aug 7, 2020
SPG71Aug 11, 2020
STAT31Aug 10, 2020
TAF11Aug 11, 2020
TBC1D242Aug 27, 2020
TBCK1Aug 10, 2020
TBX191Aug 10, 2020
TCF121Jan 17, 2024
TCF41Aug 10, 2020
TCOF12Dec 13, 2023
TGFB31Mar 15, 2024
THPO1Aug 7, 2020
TMEM701Mar 7, 2024
TNFRSF13B1Aug 10, 2020
TRIM631Feb 15, 2024
TRIO1Aug 10, 2020
TRPM41Apr 10, 2024
TRPS11Nov 2, 2023
TSC21Aug 10, 2020
TTN2Mar 26, 2024
TTN-AS12Mar 26, 2024
TUBB31Jan 5, 2024
TYMP1Feb 5, 2024
UBE2A1Aug 17, 2020
UBE4A1Aug 27, 2020
UPF3B1Aug 10, 2020
USP71Jan 5, 2024
USP7-AS11Jan 5, 2024
USP9X2Nov 13, 2023
WAC1Aug 27, 2020
WASHC41Oct 19, 2023
WDR451Aug 10, 2020
ZNF2761Oct 25, 2023
ZNF4621Aug 11, 2020

Condition

NameSubmissionsLast Updated
8q24.3 microdeletion syndrome1Aug 10, 2020
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Aug 7, 2020
Acrocephalosyndactyly type I1Aug 10, 2020
Adenylosuccinate lyase deficiency1Aug 10, 2020
Aicardi-Goutieres syndrome 21Aug 10, 2020
Aldosterone-producing adenoma with seizures and neurological abnormalities1Apr 10, 2024
Alstrom syndrome4Apr 9, 2024
Andersen Tawil syndrome1Mar 28, 2024
Anophthalmia/microphthalmia-esophageal atresia syndrome1Aug 7, 2020
Arrhythmogenic right ventricular dysplasia 11Mar 15, 2024
Arrhythmogenic right ventricular dysplasia 83Apr 10, 2024
Arrhythmogenic right ventricular dysplasia 91Apr 10, 2024
Ataxia-pancytopenia syndrome1Aug 7, 2020
Autism, susceptibility to, X-linked 41Jan 25, 2024
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Aug 10, 2020
Autosomal dominant nonsyndromic hearing loss 221Aug 10, 2020
Autosomal recessive nonsyndromic hearing loss 1A2Jan 18, 2024
Baraitser-Winter syndrome 11Jan 9, 2024
Biotinidase deficiency2Jan 25, 2024
Bosch-Boonstra-Schaaf optic atrophy syndrome1Jan 4, 2024
Brachydactyly type B21Aug 19, 2020
Brain small vessel disease 1 with or without ocular anomalies1Oct 25, 2023
Breast-ovarian cancer, familial, susceptibility to, 21Aug 10, 2020
CACNA1A-associated disorders1Aug 7, 2020
CBL-related disorder1Aug 7, 2020
Cardiac anomalies - developmental delay - facial dysmorphism syndrome1Jan 25, 2024
Cardiac arrhythmia, ankyrin-B-related1Mar 15, 2024
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 11Feb 5, 2024
Cardiofaciocutaneous syndrome 31Apr 9, 2024
Cardiomyopathy, dilated, 2E1Apr 9, 2024
Cardiomyopathy, dilated, 2I1Mar 28, 2024
Cardiomyopathy, familial hypertrophic 273Mar 26, 2024
Cardiomyopathy, familial hypertrophic, 282Mar 15, 2024
Carnitine palmitoyl transferase II deficiency, myopathic form1Mar 26, 2024
Cerebro-costo-mandibular syndrome1Aug 11, 2020
Cobalamin C disease1Nov 13, 2023
Coffin-Siris syndrome 12Dec 12, 2023
Colobomatous microphthalmia-rhizomelic dysplasia syndrome1Aug 7, 2020
Combined immunodeficiency due to GINS1 deficiency2Aug 10, 2020
Combined immunodeficiency due to LRBA deficiency1Nov 8, 2023
Combined malonic and methylmalonic acidemia1Jan 25, 2024
Complex cortical dysplasia with other brain malformations 11Jan 5, 2024
Congenital isolated adrenocorticotropic hormone deficiency1Aug 10, 2020
Congenital muscular hypertrophy-cerebral syndrome1Aug 10, 2020
Creatine transporter deficiency2Aug 10, 2020
Crouzon syndrome1Aug 10, 2020
DYRK1A-related intellectual disability syndrome1Aug 10, 2020
DeSanto-Shinawi syndrome due to WAC point mutation1Aug 27, 2020
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Nov 8, 2023
Developmental and epileptic encephalopathy, 321Aug 7, 2020
Developmental and epileptic encephalopathy, 621Jan 19, 2024
Diamond-Blackfan anemia 81Aug 10, 2020
Dilated cardiomyopathy 1A1Mar 26, 2024
Dilated cardiomyopathy 1DD3Mar 28, 2024
Dilated cardiomyopathy 1G2Mar 26, 2024
Dilated cardiomyopathy 1S2Apr 9, 2024
Ehlers-Danlos syndrome, type 41Aug 10, 2020
Epilepsy, familial focal, with variable foci 41Nov 13, 2023
Episodic pain syndrome, familial, 21Apr 9, 2024
FLNC-associated cardiomyopathy1Aug 10, 2020
Fabry disease1Aug 10, 2020
Familial temporal lobe epilepsy 71Oct 25, 2023
Fanconi anemia complementation group A2Oct 25, 2023
Fibromatosis, gingival, 11Mar 26, 2024
Glycogen storage disease type III2Mar 26, 2024
Hao-Fountain syndrome1Jan 5, 2024
Hemochromatosis type 12Mar 26, 2024
Hereditary spastic paraplegia 71Aug 11, 2020
Heterotopia, periventricular, X-linked dominant2Jan 19, 2024
Hogue-Janssens syndrome 11Aug 10, 2020
Hypercholesterolemia, familial, 12Jan 19, 2024
Hypertrophic cardiomyopathy 12Apr 11, 2024
Hypertrophic cardiomyopathy 101Mar 28, 2024
Hypertrophic cardiomyopathy 261Mar 26, 2024
Hypertrophic cardiomyopathy 43Mar 18, 2024
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Aug 10, 2020
Immunodeficiency, common variable, 21Aug 10, 2020
Infantile liver failure syndrome 21Aug 19, 2020
Intellectual disability, X-linked 11Nov 8, 2023
Intellectual disability, X-linked 1021Aug 10, 2020
Intellectual disability, X-linked 491Aug 10, 2020
Intellectual disability, X-linked 991Oct 9, 2023
Intellectual disability, X-linked 99, syndromic, female-restricted1Nov 13, 2023
Intellectual disability, X-linked, syndromic 331Aug 11, 2020
Intellectual disability, autosomal dominant 11Nov 3, 2023
Intellectual disability, autosomal dominant 141Aug 19, 2020
Intellectual disability, autosomal dominant 161Aug 10, 2020
Intellectual disability, autosomal dominant 201Aug 7, 2020
Intellectual disability, autosomal dominant 241Aug 7, 2020
Intellectual disability, autosomal dominant 422Aug 10, 2020
Intellectual disability, autosomal dominant 62Nov 13, 2023
Intellectual disability, autosomal dominant 82Nov 13, 2023
Intellectual disability, autosomal recessive 431Oct 19, 2023
Intellectual disability, autosomal recessive 651Jan 25, 2024
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Aug 10, 2020
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1Nov 3, 2023
Intellectual disability-hypotonic facies syndrome, X-linked, 11Jan 19, 2024
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1Aug 7, 2020
Interstitial lung disease due to ABCA3 deficiency2Aug 7, 2020
Joubert syndrome 101Aug 7, 2020
Joubert syndrome 252Jan 25, 2024
Kabuki syndrome 14Nov 13, 2023
Koolen-de Vries syndrome1Aug 10, 2020
Left ventricular noncompaction 81Apr 10, 2024
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome1Nov 2, 2023
Long QT syndrome 111Apr 11, 2024
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA1Nov 2, 2023
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1Aug 10, 2020
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations1Aug 10, 2020
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1Aug 10, 2020
Mitochondrial complex II deficiency, nuclear type 11Mar 27, 2024
Mitochondrial complex V (ATP synthase) deficiency nuclear type 21Mar 7, 2024
Muenke syndrome1Aug 7, 2020
Muscle AMP deaminase deficiency4Nov 3, 2023
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A51Mar 18, 2024
NSD2-associated disorder1Aug 10, 2020
Neu-Laxova syndrome 22Aug 10, 2020
Neurodegeneration with brain iron accumulation 51Aug 10, 2020
Neurodevelopmental disorder with central and peripheral motor dysfunction2Aug 10, 2020
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1Aug 10, 2020
Neurodevelopmental disorder with language impairment and behavioral abnormalities1Jan 4, 2024
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA1Aug 10, 2020
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1Aug 11, 2020
Nizon-Isidor syndrome1Jan 25, 2024
Noonan syndrome 92Apr 9, 2024
Okur-Chung neurodevelopmental syndrome1Nov 2, 2023
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Aug 10, 2020
PSAT deficiency2Aug 10, 2020
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Aug 10, 2020
Pfeiffer syndrome1Aug 10, 2020
Pitt-Hopkins syndrome1Aug 10, 2020
Primary familial hypertrophic cardiomyopathy1Feb 15, 2024
Progressive familial heart block type IB1Apr 10, 2024
Prostate cancer, hereditary, 21Apr 10, 2024
Proximal symphalangism 1A1Aug 19, 2020
Radial aplasia-thrombocytopenia syndrome1Jan 25, 2024
Renal carnitine transport defect4Mar 27, 2024
Rett syndrome1Aug 10, 2020
SMAD2-congenital heart disease and multiple congenital anomaly disorder1Aug 7, 2020
STAT3-related early-onset multisystem autoimmune disease1Aug 10, 2020
Schwannomatosis 21Feb 7, 2024
Severe intellectual disability-progressive spastic diplegia syndrome1Jan 9, 2024
Short QT syndrome type 11Apr 11, 2024
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome1Aug 19, 2020
Stapes ankylosis with broad thumbs and toes1Aug 19, 2020
Succinate-semialdehyde dehydrogenase deficiency1Oct 25, 2023
Sudden cardiac failure, alcohol-induced1Mar 4, 2024
Symphalangism-brachydactyly syndrome1Aug 19, 2020
Syndromic X-linked intellectual disability 141Aug 10, 2020
Syndromic X-linked intellectual disability Nascimento type1Aug 17, 2020
TCF12-related craniosynostosis1Jan 17, 2024
Tarsal-carpal coalition syndrome1Aug 19, 2020
Thrombocythemia 11Aug 7, 2020
Treacher Collins syndrome 12Dec 13, 2023
Trichorhinophalangeal dysplasia type I1Nov 2, 2023
Tuberous sclerosis 21Aug 10, 2020
Usher syndrome type 1D2Dec 12, 2023
Variegate porphyria1Aug 10, 2020
Very long chain acyl-CoA dehydrogenase deficiency1Mar 7, 2024
Vissers-Bodmer syndrome1Nov 8, 2023
Weiss-kruszka syndrome1Aug 11, 2020
Wiedemann-Steiner syndrome3Nov 13, 2023
X-linked Alport syndrome1Nov 8, 2023
atypical Wolf-Hirschhorn syndrome1Aug 10, 2020
not provided3Aug 27, 2020
not specified2Aug 27, 2020