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UCLA Clinical Genomics Center (UCLA)

General information

UCLA Clinical Genomics Center
UCLA
Los Angeles
United States

Organization ID: 505231

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 214

Gene

GeneSubmissionsLast Updated
ABCA41May 14, 2015
ACAD91May 14, 2015
ACOX11May 14, 2015
ACVR11May 14, 2015
ADA1May 14, 2015
ADAR1May 14, 2015
AHI12May 14, 2015
ALDH18A11May 14, 2015
ALDH7A11May 14, 2015
ANO51May 14, 2015
AR1May 14, 2015
ATP1A31May 14, 2015
ATP7B1May 14, 2015
ATRX2May 14, 2015
B3GALNT21May 14, 2015
BCOR1May 14, 2015
BRWD31May 14, 2015
C1QTNF51May 14, 2015
CACNA1A1May 14, 2015
CAMTA11May 14, 2015
CAPN31May 14, 2015
CASK1May 14, 2015
CDK5RAP21May 14, 2015
CERKL1May 14, 2015
CFAP921May 14, 2015
CHD71May 14, 2015
CHD82May 14, 2015
CLCNKB1May 14, 2015
CLN82May 14, 2015
CNGA11May 14, 2015
CNGB31May 14, 2015
COL1A22May 14, 2015
COL3A11May 14, 2015
COL6A21May 14, 2015
CRB11May 14, 2015
CRLF11May 14, 2015
CRX1May 14, 2015
CTNNB11May 14, 2015
CTXN2-AS11May 14, 2015
DCAF171May 14, 2015
DHTKD12May 14, 2015
DMD1May 14, 2015
DNMT11May 14, 2015
DOK71May 14, 2015
DUSP291May 14, 2015
DYNC1H11May 14, 2015
DYRK1A9Dec 2, 2014
DYSF2May 14, 2015
EFTUD21May 14, 2015
ETFDH1May 14, 2015
F81May 14, 2015
F91May 14, 2015
FA2H1May 14, 2015
FADD1May 14, 2015
FGF231May 14, 2015
FLCN1May 14, 2015
FOXP11Sep 25, 2014
G6PD1May 14, 2015
GARS11May 14, 2015
GATA22May 14, 2015
GDAP11May 14, 2015
GIGYF22May 14, 2015
GJB21May 14, 2015
GLB11May 14, 2015
GLDC1May 14, 2015
GMPPB1May 14, 2015
GNAS1May 14, 2015
GOSR21May 14, 2015
GRIN2B1May 14, 2015
HDAC81May 14, 2015
HSD17B31May 14, 2015
HSD17B3-AS11May 14, 2015
HSPD11May 14, 2015
HUWE11May 14, 2015
IGHMBP21May 14, 2015
IL2RG1May 14, 2015
ITGA2B1May 14, 2015
ITPR11May 14, 2015
KAT6A2Jan 16, 2015
KAT6B1May 14, 2015
KCNJ131May 14, 2015
KCNMA11May 14, 2015
KCNQ21May 14, 2015
KCNT11May 14, 2015
KDM6A1May 14, 2015
KMT2A4May 14, 2015
KMT2D1May 14, 2015
KRAS1May 14, 2015
KRT161May 14, 2015
LAMA21May 14, 2015
LIPT11May 14, 2015
LMNA1May 14, 2015
LOC1019271571May 14, 2015
LOC1065017131May 14, 2015
LRRC37A21May 14, 2015
MAP2K21May 14, 2015
MAP3K11May 14, 2015
MED121May 14, 2015
MEFV1May 14, 2015
MERTK1May 14, 2015
MFRP1May 14, 2015
MITD11May 14, 2015
MMUT1May 14, 2015
MPZ2May 14, 2015
MRE111May 14, 2015
MRPL441May 14, 2015
MTFMT1May 14, 2015
MYBPC31May 14, 2015
MYH71May 14, 2015
MYLK1May 14, 2015
NDUFS81May 14, 2015
NF11May 14, 2015
NOTCH11May 14, 2015
NOTCH31May 14, 2015
NPC11May 14, 2015
NR2E31May 14, 2015
NR2F11May 14, 2015
NR5A12May 14, 2015
NSD12May 14, 2015
OPA11May 14, 2015
OTOF1May 14, 2015
PCDH191May 14, 2015
PDE6C1May 14, 2015
PIEZO12Aug 23, 2018
PIK3CA1May 14, 2015
PIK3R11May 14, 2015
PLA2G61May 14, 2015
POLG1May 14, 2015
POLR3A1May 14, 2015
POLR3B1May 14, 2015
PRF11May 14, 2015
PSEN11May 14, 2015
PTEN1May 14, 2015
PTPN112May 14, 2015
RAD211May 14, 2015
RAPSN1May 14, 2015
RLBP11May 14, 2015
RPGR1May 14, 2015
RPGRIP11May 14, 2015
RRM2B1May 14, 2015
RTEL11May 14, 2015
RTEL1-TNFRSF6B1May 14, 2015
SACS1May 14, 2015
SATB21May 14, 2015
SCN2A3May 14, 2015
SCN5A2May 14, 2015
SCN8A1May 14, 2015
SDHB1May 14, 2015
SDHD1May 14, 2015
SETX1May 14, 2015
SH3TC21May 14, 2015
SHOC21May 14, 2015
SLC12A11May 14, 2015
SLC35C11May 14, 2015
SLC45A21May 14, 2015
SMARCA22May 14, 2015
SNHG141May 14, 2015
SPAST2May 14, 2015
SPG72May 14, 2015
SRCAP1May 14, 2015
STAT11May 14, 2015
SUFU1May 14, 2015
SURF11May 14, 2015
SYNE13May 14, 2015
SYNGAP11May 14, 2015
SYNGAP1-AS11May 14, 2015
TBC1D241May 14, 2015
TBCE1May 14, 2015
TCAP1May 14, 2015
TCF42May 14, 2015
TFAM1Jan 27, 2016
TGFBR21May 14, 2015
TNFRSF13B1May 14, 2015
TNFRSF1A1May 14, 2015
TNNI31May 14, 2015
TNXB1May 14, 2015
TP531Jun 8, 2017
TRMU1May 14, 2015
TSFM1May 14, 2015
TTN2May 14, 2015
TTN-AS12May 14, 2015
TUBA1A1May 14, 2015
TUBB2A2May 14, 2015
TUBB4A1May 14, 2015
UBE3A1May 14, 2015
USH2A2May 14, 2015
UTP231May 14, 2015
VCP1May 14, 2015
ZEB22May 14, 2015

Condition

NameSubmissionsLast Updated
2-aminoadipic 2-oxoadipic aciduria1May 14, 2015
46,XY sex reversal 32May 14, 2015
46,XY sex reversal 61May 14, 2015
ALDH18A1-related de Barsy syndrome1May 14, 2015
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1May 14, 2015
Acyl-CoA dehydrogenase 9 deficiency1May 14, 2015
Acyl-CoA oxidase deficiency1May 14, 2015
Alpha thalassemia-X-linked intellectual disability syndrome2May 14, 2015
Alzheimer disease 31May 14, 2015
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1May 14, 2015
Angelman syndrome1May 14, 2015
Aortic aneurysm, familial thoracic 71May 14, 2015
Aortic valve disease 11May 14, 2015
Ataxia-telangiectasia-like disorder 11May 14, 2015
Atrial fibrillation, familial, 101May 14, 2015
Autism, susceptibility to, 182May 14, 2015
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1May 14, 2015
Autosomal dominant optic atrophy classic form1May 14, 2015
Autosomal recessive ataxia, Beauce type3May 14, 2015
Autosomal recessive distal spinal muscular atrophy 11May 14, 2015
Autosomal recessive limb-girdle muscular dystrophy type 2A1May 14, 2015
Autosomal recessive limb-girdle muscular dystrophy type 2B2May 14, 2015
Autosomal recessive limb-girdle muscular dystrophy type 2G1May 14, 2015
Autosomal recessive limb-girdle muscular dystrophy type 2J1May 14, 2015
Autosomal recessive limb-girdle muscular dystrophy type 2L1May 14, 2015
Autosomal recessive limb-girdle muscular dystrophy type 2T1May 14, 2015
Autosomal recessive nonsyndromic hearing loss 1A1May 14, 2015
Autosomal recessive nonsyndromic hearing loss 91May 14, 2015
Bannayan-Riley-Ruvalcaba syndrome1May 14, 2015
Bartter disease type 11May 14, 2015
Bartter disease type 31May 14, 2015
Beckwith-Wiedemann syndrome1May 14, 2015
Benign scapuloperoneal muscular dystrophy with cardiomyopathy1May 14, 2015
Bethlem myopathy 11May 14, 2015
Blepharophimosis - intellectual disability syndrome, MKB type1May 14, 2015
Blepharophimosis - intellectual disability syndrome, SBBYS type1May 14, 2015
Bosch-Boonstra-Schaaf optic atrophy syndrome1May 14, 2015
Bothnia retinal dystrophy1May 14, 2015
Brugada syndrome 12May 14, 2015
CHARGE association1May 14, 2015
Cardiofaciocutaneous syndrome 11May 14, 2015
Cardiomyopathy, familial restrictive, 11May 14, 2015
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1May 14, 2015
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11May 14, 2015
Charcot-Marie-Tooth disease axonal type 2K1May 14, 2015
Charcot-Marie-Tooth disease axonal type 2Q1May 14, 2015
Charcot-Marie-Tooth disease dominant intermediate D2May 14, 2015
Charcot-Marie-Tooth disease recessive intermediate A1May 14, 2015
Charcot-Marie-Tooth disease type 1B2May 14, 2015
Charcot-Marie-Tooth disease type 2D1May 14, 2015
Charcot-Marie-Tooth disease type 2I2May 14, 2015
Charcot-Marie-Tooth disease type 2J2May 14, 2015
Charcot-Marie-Tooth disease type 4A1May 14, 2015
Charcot-Marie-Tooth disease type 4C1May 14, 2015
Charcot-Marie-Tooth disease type 4E2May 14, 2015
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive1May 14, 2015
Charlevoix-Saguenay spastic ataxia1May 14, 2015
Chromosome 2q32-q33 deletion syndrome1May 14, 2015
Cold-induced sweating syndrome 11May 14, 2015
Combined oxidative phosphorylation defect type 151May 14, 2015
Complex cortical dysplasia with other brain malformations 52May 14, 2015
Cone dystrophy 41May 14, 2015
Cone-rod dystrophy 131May 14, 2015
Congenital muscular dystrophy due to LMNA mutation1May 14, 2015
Congenital myasthenic syndrome 101May 14, 2015
Congenital myasthenic syndrome 4C1May 14, 2015
Cornelia de Lange syndrome 41May 14, 2015
Cornelia de Lange syndrome 51May 14, 2015
Cowden syndrome 11May 14, 2015
DOORS syndrome1May 14, 2015
DYRK1A-related intellectual disability syndrome11Dec 2, 2014
Deafness-lymphedema-leukemia syndrome2May 14, 2015
Dejerine-Sottas disease2May 14, 2015
Developmental and epileptic encephalopathy, 113May 14, 2015
Developmental and epileptic encephalopathy, 131May 14, 2015
Developmental and epileptic encephalopathy, 141May 14, 2015
Developmental and epileptic encephalopathy, 161May 14, 2015
Developmental and epileptic encephalopathy, 71May 14, 2015
Developmental and epileptic encephalopathy, 91May 14, 2015
Dilated cardiomyopathy 1A1May 14, 2015
Dilated cardiomyopathy 1E1May 14, 2015
Dilated cardiomyopathy 1FF1May 14, 2015
Dilated cardiomyopathy 1G1May 14, 2015
Dilated cardiomyopathy 1S1May 14, 2015
Distal myopathy with anterior tibial onset1May 14, 2015
Duchenne muscular dystrophy1May 14, 2015
Dyskeratosis congenita, autosomal recessive 51May 14, 2015
Early-onset myopathy with fatal cardiomyopathy1May 14, 2015
Ehlers-Danlos syndrome, type 32May 14, 2015
Ehlers-Danlos syndrome, type 41May 14, 2015
Episodic ataxia type 21May 14, 2015
FADD-related immunodeficiency1May 14, 2015
FG syndrome 11May 14, 2015
Familial Mediterranean fever1May 14, 2015
Familial hemophagocytic lymphohistiocytosis 21May 14, 2015
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome1May 14, 2015
Familial infantile myoclonic epilepsy1May 14, 2015
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31May 14, 2015
Fetal akinesia deformation sequence 11May 14, 2015
Floating-Harbor syndrome1May 14, 2015
Generalized epilepsy-paroxysmal dyskinesia syndrome1May 14, 2015
Glanzmann thrombasthenia1May 14, 2015
Hereditary factor IX deficiency disease1May 14, 2015
Hereditary factor VIII deficiency disease1May 14, 2015
Hereditary sensory neuropathy-deafness-dementia syndrome1May 14, 2015
Hereditary spastic paraplegia 131May 14, 2015
Hereditary spastic paraplegia 351May 14, 2015
Hereditary spastic paraplegia 42May 14, 2015
Hereditary spastic paraplegia 72May 14, 2015
Hypertrophic cardiomyopathy 11May 14, 2015
Hypertrophic cardiomyopathy 41May 14, 2015
Hypertrophic cardiomyopathy 71May 14, 2015
Hypertrophic cardiomyopathy 91May 14, 2015
Hypomyelinating leukodystrophy 61May 14, 2015
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism1May 14, 2015
Immunodeficiency, common variable, 21May 14, 2015
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11May 14, 2015
Infantile GM1 gangliosidosis1May 14, 2015
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency1May 14, 2015
Infantile neuroaxonal dystrophy1May 14, 2015
Intellectual disability, X-linked 931May 14, 2015
Intellectual disability, X-linked syndromic, Turner type1May 14, 2015
Intellectual disability, autosomal dominant 131May 14, 2015
Intellectual disability, autosomal dominant 51May 14, 2015
Intellectual disability, autosomal dominant 61May 14, 2015
Intellectual disability-severe speech delay-mild dysmorphism syndrome1Sep 25, 2014
Joubert syndrome 32May 14, 2015
KAT6A syndrome2Jan 16, 2015
Kabuki syndrome 11May 14, 2015
Kabuki syndrome 21May 14, 2015
Late-onset retinal degeneration1May 14, 2015
Leber congenital amaurosis 161May 14, 2015
Leber congenital amaurosis 71May 14, 2015
Leigh syndrome2May 14, 2015
Leukocyte adhesion deficiency type II1May 14, 2015
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome1May 14, 2015
Li-Fraumeni syndrome 11Jun 8, 2017
Lipoyl transferase 1 deficiency1May 14, 2015
Lissencephaly due to TUBA1A mutation1May 14, 2015
Loeys-Dietz syndrome 21May 14, 2015
Long QT syndrome 31May 14, 2015
Lymphatic malformation 62Aug 23, 2018
MYH7-related late-onset scapuloperoneal muscular dystrophy1May 14, 2015
MYH7-related skeletal myopathy1May 14, 2015
Macrocephaly-autism syndrome1May 14, 2015
Mandibulofacial dysostosis-microcephaly syndrome1May 14, 2015
Medulloblastoma1May 14, 2015
Megalencephaly-capillary malformation-polymicrogyria syndrome1May 14, 2015
Merosin deficient congenital muscular dystrophy1May 14, 2015
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1May 14, 2015
Microcephaly 3, primary, autosomal recessive1May 14, 2015
Mitochondrial DNA depletion syndrome 8a1May 14, 2015
Mitochondrial DNA depletion syndrome, hepatocerebral form1Jan 27, 2016
Miyoshi muscular dystrophy 11May 14, 2015
Miyoshi muscular dystrophy 31May 14, 2015
Monocytopenia with susceptibility to infections1May 14, 2015
Mowat-Wilson syndrome2May 14, 2015
Multiple acyl-CoA dehydrogenase deficiency1May 14, 2015
Multiple fibrofolliculomas1May 14, 2015
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A141May 14, 2015
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111May 14, 2015
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B141May 14, 2015
Myosin storage myopathy1May 14, 2015
Neurofibromatosis, type 11May 14, 2015
Neuronal ceroid lipofuscinosis 82May 14, 2015
Neuronopathy, distal hereditary motor, type 5A1May 14, 2015
Nicolaides-Baraitser syndrome2May 14, 2015
Niemann-Pick disease, type C11May 14, 2015
Non-ketotic hyperglycinemia1May 14, 2015
Nonprogressive cerebellar atxia with intellectual disability1May 14, 2015
Noonan syndrome 12May 14, 2015
Noonan syndrome 31May 14, 2015
Noonan syndrome-like disorder with loose anagen hair 11May 14, 2015
Oculocutaneous albinism type 41May 14, 2015
Oculofaciocardiodental syndrome1May 14, 2015
Osteogenesis imperfecta type III2May 14, 2015
Osteogenesis imperfecta with normal sclerae, dominant form2May 14, 2015
Osteogenesis imperfecta, recessive perinatal lethal2May 14, 2015
Pachyonychia congenita 11May 14, 2015
Paragangliomas 11May 14, 2015
Paragangliomas 41May 14, 2015
Parkinson disease 11, autosomal dominant, susceptibility to1May 14, 2015
Partial androgen insensitivity syndrome1May 14, 2015
Pitt-Hopkins syndrome2May 14, 2015
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11May 14, 2015
Progressive familial heart block, type 1A1May 14, 2015
Progressive myoclonic epilepsy type 61May 14, 2015
Progressive myositis ossificans1May 14, 2015
Pseudohypoparathyroidism1May 14, 2015
Pseudohypoparathyroidism type 1C1May 14, 2015
Pyridoxine-dependent epilepsy1May 14, 2015
Retinitis pigmentosa 121May 14, 2015
Retinitis pigmentosa 261May 14, 2015
Retinitis pigmentosa 371May 14, 2015
Retinitis pigmentosa 381May 14, 2015
Retinitis pigmentosa 391May 14, 2015
Retinitis pigmentosa 491May 14, 2015
Roussy-Lévy syndrome2May 14, 2015
SHORT syndrome1May 14, 2015
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1May 14, 2015
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1May 14, 2015
Severe early-childhood-onset retinal dystrophy2May 14, 2015
Severe intellectual disability-progressive spastic diplegia syndrome1May 14, 2015
Sotos syndrome 12May 14, 2015
Spinocerebellar ataxia type 291May 14, 2015
Spinocerebellar ataxia type 61May 14, 2015
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21May 14, 2015
Symmetrical dyschromatosis of extremities1May 14, 2015
Syndromic X-linked intellectual disability Najm type1May 14, 2015
TNF receptor-associated periodic fever syndrome (TRAPS)1May 14, 2015
Testosterone 17-beta-dehydrogenase deficiency1May 14, 2015
Usher syndrome type 2A1May 14, 2015
Ventricular fibrillation, paroxysmal familial, type 11May 14, 2015
Wiedemann-Steiner syndrome4May 14, 2015
Wilson disease1May 14, 2015
Woodhouse-Sakati syndrome1May 14, 2015
X-linked cone-rod dystrophy 11May 14, 2015
X-linked intellectual disability with marfanoid habitus1May 14, 2015
X-linked intellectual disability-hypotonic face syndrome2May 14, 2015
X-linked severe combined immunodeficiency1May 14, 2015
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