Genomic Medicine Lab (University of California San Francisco), UCSF GML

General information

Genomic Medicine Lab, UCSF GML
University of California San Francisco
513 Parnassus Ave
San Francisco
California
United States - 94143

Organization ID: 506696

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 283

Gene

GeneSubmissionsLast Updated
ACAD92Sep 17, 2019
ACO21Sep 17, 2019
ACTA11Mar 31, 2021
ACTB1Mar 31, 2021
ACTG11Mar 31, 2021
ACTG21Mar 31, 2021
ADNP1Sep 17, 2019
AGA1Mar 31, 2021
AHDC11Sep 17, 2019
ALG11Mar 31, 2021
ALS21Mar 31, 2021
AMPD22Mar 31, 2021
ANKRD114Mar 31, 2021
ANKRD171Sep 17, 2019
AQP21Mar 31, 2021
AR1Mar 31, 2021
ARID1A2Mar 31, 2021
ARMC91Sep 17, 2019
ARSL1Sep 17, 2019
ARX1Mar 31, 2021
ASH1L1Mar 31, 2021
BCL11A1May 13, 2020
BCS1L2Mar 31, 2021
BICD21Mar 31, 2021
BIVM-ERCC51Mar 31, 2021
BMP21Sep 17, 2019
BRAF1Sep 17, 2019
BRCA23Sep 17, 2019
BRPF11Mar 31, 2021
CACNA1A1Mar 31, 2021
CC2D2A1Sep 17, 2019
CCDC81Sep 17, 2019
CD961Sep 17, 2019
CEP552Mar 31, 2021
CHAMP11Mar 31, 2021
CHD32Mar 31, 2021
CHD74Mar 31, 2021
CHEK21Sep 17, 2019
COL1A11Mar 31, 2021
COL1A21Mar 31, 2021
COL2A11Mar 31, 2021
COL6A11Mar 31, 2021
COL6A21Mar 31, 2021
CSNK2B1Mar 31, 2021
CTCF2Mar 31, 2021
CYP1B12Mar 31, 2021
DCDC2C1Sep 17, 2019
DDB11Sep 17, 2019
DDX3X2Mar 31, 2021
DELE11Sep 17, 2019
DGAT11Sep 17, 2019
DHCR242Mar 31, 2021
DLL11Mar 31, 2021
DNAH92Mar 31, 2021
DUSP291Mar 31, 2021
DYNC2H12Mar 31, 2021
DYRK1A1Mar 31, 2021
ECEL11Mar 31, 2021
EFL11Sep 17, 2019
EFTUD21Mar 31, 2021
EHMT11Sep 17, 2019
EIF2S31Mar 31, 2021
ELN1Mar 31, 2021
ELP11Sep 17, 2019
EP3003Mar 31, 2021
ERCC51Mar 31, 2021
EXT21Sep 17, 2019
FGD11Mar 31, 2021
FGF81Sep 17, 2019
FGFR21Mar 31, 2021
FGFR31Mar 31, 2021
FLNA2Mar 31, 2021
FLNC1Mar 31, 2021
FOXC21Mar 31, 2021
FOXF11Sep 17, 2019
FOXP21Mar 31, 2021
FOXP31Mar 31, 2021
FREM22Mar 31, 2021
GATAD11Mar 31, 2021
GDF51Sep 17, 2019
GDF5-AS11Sep 17, 2019
GLI22Sep 17, 2019
GLI31Sep 17, 2019
GNAS1Sep 17, 2019
GORAB1Sep 17, 2019
GRIN2A1Mar 31, 2021
GRIN2D1Mar 31, 2021
GTF2H51Mar 31, 2021
HAAO1Mar 31, 2021
HBA21Mar 31, 2021
HEPHL11Mar 31, 2021
HNRNPH21Mar 31, 2021
HRAS4Mar 31, 2021
HSPG22Mar 31, 2021
HUWE11Sep 17, 2019
IDUA1Mar 31, 2021
IFT741Mar 8, 2021
INTS12Sep 17, 2019
IQSEC22Sep 17, 2019
KANSL11Mar 31, 2021
KAT6A2Sep 17, 2019
KAT6B1Mar 31, 2021
KCNA21Sep 17, 2019
KCNJ111Mar 31, 2021
KCNK41Mar 31, 2021
KCNK4-TEX401Mar 31, 2021
KDM3B1Mar 31, 2021
KIF1A1Mar 31, 2021
KMT2A6Mar 31, 2021
KMT2D6Mar 31, 2021
KRAS1Mar 31, 2021
KRIT11Sep 17, 2019
LAMA12Mar 31, 2021
LAMA21Mar 31, 2021
LOC1002895802Mar 31, 2021
LOC1068046121Mar 31, 2021
LOC1125434521Mar 31, 2021
LRP12Sep 17, 2019
LRP61Sep 17, 2019
LRRC564Mar 31, 2021
LZTR12Mar 31, 2021
MAGEL22Mar 31, 2021
MAST11Mar 31, 2021
MBD51Mar 31, 2021
MCPH11Mar 31, 2021
MEA11Mar 31, 2021
MECP23Sep 17, 2019
MED13L1Mar 31, 2021
METTL232Mar 31, 2021
MMACHC1Sep 17, 2019
MN11Sep 17, 2019
MRPS221Mar 31, 2021
MSL31Mar 31, 2021
MTA31Mar 31, 2021
MYH31Mar 31, 2021
MYRF1Mar 31, 2021
NALCN1Sep 17, 2019
NFIB1Mar 31, 2021
NODAL1Mar 31, 2021
NPC11Sep 17, 2019
NR3C21Mar 31, 2021
NSD11Mar 31, 2021
NSD21Mar 31, 2021
OTOG1Sep 17, 2019
PBX11Mar 31, 2021
PCDH121Sep 17, 2019
PDCD101Mar 31, 2021
PDHA12Sep 17, 2019
PEX11Mar 31, 2021
PGAP21Sep 17, 2019
PHF81Mar 31, 2021
PIEZO14Mar 31, 2021
PKHD11Sep 17, 2019
PLEKHA51Sep 17, 2019
PLPBP1Sep 17, 2019
PMM21Mar 31, 2021
POGZ1Sep 17, 2019
POLR1A1Mar 31, 2021
POLR2F1Sep 17, 2019
POLR3H1Sep 17, 2019
POMT21Mar 31, 2021
POR1Sep 17, 2019
PPP2R5D1Mar 31, 2021
PROKR21Sep 17, 2019
PRRT21Sep 17, 2019
PTEN1Sep 17, 2019
PTPN118Mar 31, 2021
PUS72Mar 31, 2021
RAD212Mar 31, 2021
RET1Mar 31, 2021
RIT12Mar 31, 2021
RNF113A1Sep 17, 2019
ROCK22Mar 31, 2021
RPL36A-HNRNPH21Mar 31, 2021
RPS6KA32Mar 31, 2021
SALL11Sep 17, 2019
SATB22Mar 31, 2021
SCN1B1Sep 17, 2019
SCN2A1Sep 17, 2019
SETBP11Sep 17, 2019
SF3B41Mar 31, 2021
SHOC21Mar 31, 2021
SIN3A1Mar 31, 2021
SLC16A21Mar 31, 2021
SLC17A52Mar 31, 2021
SLC19A31Mar 31, 2021
SLC26A11Mar 31, 2021
SLC26A21Sep 17, 2019
SLC6A12Sep 17, 2019
SMAD41Mar 31, 2021
SMAD61Mar 31, 2021
SMC31Sep 17, 2019
SNAP252Mar 31, 2021
SOX101Sep 17, 2019
SOX21Mar 31, 2021
SOX2-OT1Mar 31, 2021
SPTAN11Mar 31, 2021
SRD5A21Sep 17, 2019
SUZ121Mar 31, 2021
SYNGAP11Mar 31, 2021
TANGO21Oct 3, 2018
TBC1D231Mar 31, 2021
TBCEL-TECTA1Sep 17, 2019
TBX51Mar 31, 2021
TCF201Sep 17, 2019
TECTA1Sep 17, 2019
TELO21Mar 31, 2021
TFAP2A1Mar 31, 2021
TFAP2A-AS21Mar 31, 2021
TMEM2372Mar 31, 2021
TPM11Mar 31, 2021
TPP12Mar 31, 2021
TRAF71Sep 17, 2019
TRPV41Mar 31, 2021
TTC371Sep 17, 2019
TTN2Mar 31, 2021
TTN-AS11Mar 31, 2021
TUBA1A2Mar 31, 2021
TUBB2A1Mar 31, 2021
TUBB2B1Mar 31, 2021
USP9X2Mar 31, 2021
UTP231Mar 31, 2021
WDFY31Mar 31, 2021
WDR451Mar 31, 2021
ZC4H22Mar 31, 2021
ZEB21Mar 31, 2021
ZIC31Sep 17, 2019
ZNF3352Sep 17, 2019

Condition

NameSubmissionsLast Updated
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1Sep 17, 2019
4p partial monosomy syndrome1Mar 31, 2021
ALG1-CDG1Mar 31, 2021
Aarskog syndrome1Mar 31, 2021
Achondrogenesis, type IB1Sep 17, 2019
Acrofacial dysostosis, Cincinnati type1Mar 31, 2021
Acromesomelic dysplasia, Hunter-Thompson type1Sep 17, 2019
Acyl-CoA dehydrogenase family, member 9, deficiency of2Sep 17, 2019
Allan-Herndon-Dudley syndrome1Mar 31, 2021
Alveolar capillary dysplasia with pulmonary venous misalignment1Sep 17, 2019
Ambiguous genitalia1Sep 17, 2019
Amyotrophic lateral sclerosis type 2, juvenile1Mar 31, 2021
Androgen resistance syndrome1Mar 31, 2021
Anophthalmia/microphthalmia-esophageal atresia syndrome1Mar 31, 2021
Aortic valve disease 21Mar 31, 2021
Arboleda-Tham syndrome2Sep 17, 2019
Aspartylglucosaminuria1Mar 31, 2021
Atrial septal defect1Sep 17, 2019
Autosomal dominant pseudohypoaldosteronism type 11Mar 31, 2021
Autosomal recessive polycystic kidney disease1Sep 17, 2019
Baraitser-Winter Syndrome 21Mar 31, 2021
Baraitser-Winter syndrome 11Mar 31, 2021
Bardet-Biedl syndrome 201Mar 8, 2021
Basilicata-Akhtar syndrome1Mar 31, 2021
Bilateral cleft lip1Sep 17, 2019
Biotin-responsive basal ganglia disease1Mar 31, 2021
Branchiooculofacial syndrome1Mar 31, 2021
C syndrome1Sep 17, 2019
CHARGE association4Mar 31, 2021
Capillary hemangiomas1Sep 17, 2019
Cardiac, facial, and digital anomalies with developmental delay1Sep 17, 2019
Cardiofaciocutaneous syndrome 11Sep 17, 2019
Cerebral cavernous malformation1Sep 17, 2019
Cerebral cavernous malformations 31Mar 31, 2021
Cerebral palsy1Sep 17, 2019
Cerebrooculofacioskeletal syndrome 31Mar 31, 2021
Ceroid lipofuscinosis neuronal 22Mar 31, 2021
Chromosome 2q32-q33 deletion syndrome2Mar 31, 2021
Ciliary dyskinesia, primary, 401Mar 31, 2021
Cobalamin C disease2Sep 17, 2019
Coffin-Lowry syndrome1Mar 31, 2021
Combined oxidative phosphorylation deficiency 51Mar 31, 2021
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1Mar 31, 2021
Congenital contractures of the limbs and face, hypotonia, and developmental delay1Sep 17, 2019
Congenital diaphragmatic hernia2Sep 17, 2019
Congenital disorder of glycosylation, type Ia1Mar 31, 2021
Congenital heart defects, multiple types, 31Sep 17, 2019
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A21Mar 31, 2021
Congenital omphalocele1Sep 17, 2019
Contractures, pterygia, and variable skeletal fusions syndrome 1A1Mar 31, 2021
Cornelia de Lange syndrome 31Sep 17, 2019
Cornelia de Lange syndrome 42Mar 31, 2021
Coronary artery disease, autosomal dominant 21Sep 17, 2019
Corpus callosum, agenesis of1Sep 17, 2019
Cortical dysplasia, complex, with other brain malformations 51Mar 31, 2021
Costello syndrome1Sep 17, 2019
Culler-Jones syndrome1Sep 17, 2019
Deafness, autosomal recessive 211Sep 17, 2019
Delayed speech and language development1May 13, 2020
Developmental delay with variable intellectual impairment and behavioral abnormalities1Sep 17, 2019
Diabetes mellitus1Sep 17, 2019
Diarrhea 71Sep 17, 2019
Diencephalic-mesencephalic junction dysplasia syndrome 11Sep 17, 2019
Diets-Jongmans syndrome1Mar 31, 2021
Dilated cardiomyopathy 1Y1Mar 31, 2021
Distal arthrogryposis type 5D1Mar 31, 2021
Early infantile epileptic encephalopathy 111Sep 17, 2019
Early infantile epileptic encephalopathy 51Mar 31, 2021
Ehlers-danlos syndrome, arthrochalasia type, 21Mar 31, 2021
Epilepsy, early-onset, vitamin b6-dependent1Sep 17, 2019
Epilepsy, focal, with speech disorder and with or without mental retardation1Mar 31, 2021
Epileptic encephalopathy, early infantile, 461Mar 31, 2021
Episodic ataxia type 21Mar 31, 2021
FG syndrome 21Sep 17, 2019
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome1Mar 31, 2021
Familial dysautonomia1Sep 17, 2019
Familial hypertrophic cardiomyopathy 92Mar 31, 2021
Focal seizures1Sep 17, 2019
Fraser syndrome 22Mar 31, 2021
Generalized epilepsy with febrile seizures plus, type 11Sep 17, 2019
Genitopatellar syndrome1Mar 31, 2021
Geroderma osteodysplastica1Sep 17, 2019
Glaucoma 3, primary congenital, A2Mar 31, 2021
Global developmental delay4Sep 17, 2019
Hearing impairment1Sep 17, 2019
Heart, malformation of1Sep 17, 2019
Helsmoortel-Van der Aa Syndrome1Sep 17, 2019
Heterotaxy, visceral, 1, X-linked1Sep 17, 2019
Hirschsprung disease 11Mar 31, 2021
Hirsutism1Sep 17, 2019
Holt-Oram syndrome1Mar 31, 2021
Hurler syndrome1Mar 31, 2021
Hydranencephaly with renal aplasia-dysplasia3Mar 31, 2021
Hyperinsulinemic hypoglycemia, familial, 21Mar 31, 2021
Hypoplasia of the corpus callosum1Sep 17, 2019
Imagawa-Matsumoto syndrome1Mar 31, 2021
Immunodeficiency2Sep 17, 2019
Infantile cerebellar-retinal degeneration1Sep 17, 2019
Infantile convulsions and choreoathetosis1Sep 17, 2019
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature2Mar 31, 2021
Intellectual developmental disorder with dysmorphic facies and ptosis1Mar 31, 2021
Intellectual disability3Sep 17, 2019
Intellectual disability, autosomal dominant 521Mar 31, 2021
Intellectual disability, autosomal dominant 91Mar 31, 2021
Joubert syndrome 142Mar 31, 2021
KBG syndrome4Mar 31, 2021
Kabuki syndrome 16Mar 31, 2021
Kallmann syndrome 31Sep 17, 2019
Kleefstra syndrome 11Sep 17, 2019
Koolen-de Vries syndrome1Mar 31, 2021
Lissencephaly 2, X-linked1Mar 31, 2021
Lissencephaly 32Mar 31, 2021
MEHMO syndrome1Mar 31, 2021
Macrocephaly, acquired, with impaired intellectual development1Mar 31, 2021
Mandibulofacial dysostosis-microcephaly syndrome1Mar 31, 2021
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations1Mar 31, 2021
Mental retardation and distinctive facial features with or without cardiac defects1Mar 31, 2021
Mental retardation, X-linked 12Sep 17, 2019
Mental retardation, X-linked 1022Mar 31, 2021
Mental retardation, X-linked 991Sep 17, 2019
Mental retardation, X-linked 99, syndromic, female-restricted1Mar 31, 2021
Mental retardation, X-linked, syndromic, Bain type1Mar 31, 2021
Mental retardation, autosomal dominant 11Mar 31, 2021
Mental retardation, autosomal dominant 141Sep 17, 2019
Mental retardation, autosomal dominant 212Mar 31, 2021
Mental retardation, autosomal dominant 291Sep 17, 2019
Mental retardation, autosomal dominant 351Mar 31, 2021
Mental retardation, autosomal dominant 401Mar 31, 2021
Mental retardation, autosomal dominant 51Mar 31, 2021
Mental retardation, autosomal dominant 71Mar 31, 2021
Mental retardation, autosomal recessive 442Mar 31, 2021
Microcephaly 18, primary, autosomal dominant1Mar 31, 2021
Micrognathia1Sep 17, 2019
Mitochondrial complex III deficiency, nuclear type 12Mar 31, 2021
Motor delay1Sep 17, 2019
Mowat-Wilson syndrome1Mar 31, 2021
Muscular dystrophy, limb-girdle, autosomal recessive 231Mar 31, 2021
Myasthenic syndrome, congenital, 182Mar 31, 2021
Myoclonic-atonic epilepsy1Sep 17, 2019
Myopathy, distal, 41Mar 31, 2021
Nager syndrome1Mar 31, 2021
Nephrogenic diabetes insipidus, autosomal1Mar 31, 2021
Neurodegeneration with brain iron accumulation 51Mar 31, 2021
Neurodevelopmental delay4Mar 31, 2021
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures1Mar 31, 2021
Non-immune hydrops fetalis26Mar 31, 2021
Noonan syndrome 15Mar 31, 2021
Osteogenesis imperfecta, recessive perinatal lethal1Mar 31, 2021
Oto-palato-digital syndrome, type II1Mar 31, 2021
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease1Sep 17, 2019
Peroxisome biogenesis disorder 1A (Zellweger)1Mar 31, 2021
Peters plus syndrome1Sep 17, 2019
Pili torti-developmental delay-neurological abnormalities syndrome1Mar 31, 2021
Poirier-Bienvenu neurodevelopmental syndrome1Mar 31, 2021
Polydactyly2Sep 17, 2019
Polymicrogyria, asymmetric1Mar 31, 2021
Pontocerebellar hypoplasia, type 111Mar 31, 2021
Pontocerebellar hypoplasia, type 92Mar 31, 2021
Poretti-Boltshauser syndrome2Mar 31, 2021
Postaxial polydactyly1May 13, 2020
Primary autosomal recessive microcephaly 11Mar 31, 2021
Primary autosomal recessive microcephaly 102Sep 17, 2019
Pseudohypoparathyroidism1Sep 17, 2019
Pyruvate dehydrogenase E1-alpha deficiency2Sep 17, 2019
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome1Oct 3, 2018
Rett syndrome3Sep 17, 2019
Rubinstein-Taybi syndrome 23Mar 31, 2021
Saethre-Chotzen syndrome1Mar 31, 2021
Salla disease2Mar 31, 2021
Schaaf-Yang syndrome2Mar 31, 2021
Schwartz-Jampel syndrome2Mar 31, 2021
Seizures2Sep 17, 2019
Seizures, scoliosis, and macrocephaly syndrome1Sep 17, 2019
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies1Sep 17, 2019
Short-rib thoracic dysplasia 3 with or without polydactyly2Mar 31, 2021
Skeletal dysplasia and progressive central nervous system degeneration, lethal1Mar 31, 2021
Snijders blok-campeau syndrome2Mar 31, 2021
Speech apraxia1Sep 17, 2019
Speech-language disorder 11Mar 31, 2021
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant1Mar 31, 2021
Spondyloperipheral dysplasia-short ulna syndrome1Mar 31, 2021
Supravalvar aortic stenosis1Mar 31, 2021
Syndromic X-linked intellectual disability Siderius type1Mar 31, 2021
Thanatophoric dysplasia type 11Mar 31, 2021
Tooth agenesis, selective, 71Sep 17, 2019
Trichohepatoenteric syndrome 11Sep 17, 2019
Trichothiodystrophy 3, photosensitive1Mar 31, 2021
Trichothiodystrophy 5, nonphotosensitive1Sep 17, 2019
Tricuspid atresia2Sep 17, 2019
Ullrich congenital muscular dystrophy 12Mar 31, 2021
VACTERL association with hydrocephalus1Sep 17, 2019
Ventricular septal defect2Sep 17, 2019
Vertebral, cardiac, renal, and limb defects syndrome 11Mar 31, 2021
Visceral heterotaxy 5, autosomal1Mar 31, 2021
Visceral myopathy1Mar 31, 2021
White-sutton syndrome2Sep 17, 2019
Wieacker-Wolff syndrome2Mar 31, 2021
Wiedemann-Steiner syndrome6Mar 31, 2021
Witteveen-kolk syndrome1Mar 31, 2021
X-linked chondrodysplasia punctata 11Sep 17, 2019
Xia-Gibbs syndrome1Sep 17, 2019
You-Hoover-Fong syndrome1Mar 31, 2021
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