ClinVar Miner

Variants from UCLA Clinical Genomics Center, UCLA

Location: United States — Primary collection method: clinical testing
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
62 152 0 0 0 214

Gene and significance breakdown #

Total genes and gene combinations: 176
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Gene or gene combination pathogenic likely pathogenic total
DYRK1A 6 3 9
KMT2A 2 2 4
SCN2A 0 3 3
SYNE1 0 3 3
AHI1 0 2 2
ATRX 1 1 2
CHD8 0 2 2
CLN8 0 2 2
COL1A2 0 2 2
DHTKD1 0 2 2
DYSF 0 2 2
GATA2 1 1 2
KAT6A 2 0 2
MPZ 1 1 2
NR5A1 2 0 2
NSD1 0 2 2
PIEZO1 0 2 2
PTPN11 1 1 2
SCN5A 0 2 2
SMARCA2 0 2 2
SPAST 1 1 2
SPG7 0 2 2
TCF4 1 1 2
TTN 0 2 2
TUBB2A 0 2 2
USH2A 0 2 2
ZEB2 0 2 2
ABCA4 1 0 1
ACAD9, KIAA1257 0 1 1
ACOX1 0 1 1
ACVR1 0 1 1
ADA 0 1 1
ADAR 0 1 1
ALDH18A1 0 1 1
ALDH7A1 0 1 1
ANO5 0 1 1
AR 1 0 1
ATP1A3 0 1 1
ATP7B 1 0 1
B3GALNT2, TBCE 0 1 1
B3GALT5, BRWD1, CLDN14, DSCAM, DSCR4, DSCR8, DYRK1A, ERG, ETS2, GET1, HLCS, HMGN1, IGSF5, KCNJ15, KCNJ6, LCA5L, LINC00114, PCP4, PIGP, PSMG1, RIPPLY3, SH3BGR, SIM2, TTC3, VPS26C 1 0 1
BCOR 0 1 1
BRWD3 0 1 1
C1QTNF5, MFRP 0 1 1
CACNA1A 0 1 1
CAMTA1 0 1 1
CAPN3 1 0 1
CASK 1 0 1
CDK5RAP2 0 1 1
CERKL 1 0 1
CHD7 1 0 1
CLCNKB, LOC106501713 0 1 1
CNGA1, LOC101927157 1 0 1
CNGB3 1 0 1
COL3A1 0 1 1
COL6A2 0 1 1
CRB1 0 1 1
CRLF1 1 0 1
CRX 0 1 1
CTNNB1 0 1 1
DCAF17 1 0 1
DMD 0 1 1
DNMT1 0 1 1
DOK7 0 1 1
DSCR4, DSCR8, DYRK1A, ERG, ETS2, KCNJ15, KCNJ6, LINC00114 1 0 1
DUPD1, KAT6B 0 1 1
DYNC1H1 0 1 1
EFTUD2 0 1 1
ETFDH 1 0 1
F8 0 1 1
F9 1 0 1
FA2H 0 1 1
FADD 0 1 1
FGF23 0 1 1
FLCN 1 0 1
FOXP1 0 1 1
G6PD 0 1 1
GARS1 0 1 1
GDAP1 1 0 1
GIGYF2 0 1 1
GIGYF2, KCNJ13 0 1 1
GJB2 0 1 1
GLB1 1 0 1
GLDC 0 1 1
GMPPB 1 0 1
GNAS 0 1 1
GOSR2, LRRC37A2 0 1 1
GRIN2B 1 0 1
HDAC8 0 1 1
HSD17B3 0 1 1
HSPD1 0 1 1
HUWE1 0 1 1
IGHMBP2 0 1 1
IL2RG 1 0 1
ITGA2B 1 0 1
ITPR1 0 1 1
KCNMA1 0 1 1
KCNQ2 1 0 1
KCNT1 1 0 1
KDM6A 0 1 1
KMT2D 1 0 1
KRAS 1 0 1
KRT16 0 1 1
LAMA2 1 0 1
LIPT1, MITD1 1 0 1
LMNA 1 0 1
MAP2K2 0 1 1
MAP3K1 0 1 1
MED12 0 1 1
MEFV 0 1 1
MERTK 0 1 1
MMUT 1 0 1
MRE11 0 1 1
MRPL44 0 1 1
MTFMT 0 1 1
MYBPC3 0 1 1
MYH7 0 1 1
MYLK 0 1 1
NDUFS8 0 1 1
NF1 0 1 1
NOTCH1 0 1 1
NOTCH3 1 0 1
NPC1 0 1 1
NR2E3 0 1 1
NR2F1 0 1 1
OPA1 0 1 1
OTOF 0 1 1
PCDH19 0 1 1
PDE6C 0 1 1
PIK3CA 0 1 1
PIK3R1 1 0 1
PLA2G6 1 0 1
POLG 0 1 1
POLR3A 0 1 1
POLR3B 0 1 1
PRF1 0 1 1
PSEN1 1 0 1
PTEN 0 1 1
RAD21 0 1 1
RAPSN 0 1 1
RLBP1 0 1 1
RPGR 0 1 1
RPGRIP1 0 1 1
RRM2B 0 1 1
RTEL1, RTEL1-TNFRSF6B 0 1 1
SACS 0 1 1
SATB2 0 1 1
SCN8A 0 1 1
SDHB 1 0 1
SDHD 1 0 1
SETX 0 1 1
SH3TC2 1 0 1
SHOC2 0 1 1
SLC12A1 1 0 1
SLC35C1 0 1 1
SLC45A2 0 1 1
SNHG14, UBE3A 0 1 1
SRCAP 1 0 1
STAT1 1 0 1
SUFU 1 0 1
SURF1 0 1 1
SYNGAP1 1 0 1
TBC1D24 0 1 1
TCAP 0 1 1
TFAM 0 1 1
TGFBR2 0 1 1
TNFRSF13B 0 1 1
TNFRSF1A 1 0 1
TNNI3 0 1 1
TNXB 0 1 1
TP53 1 0 1
TRMU 0 1 1
TSFM 0 1 1
TUBA1A 0 1 1
TUBB4A 0 1 1
VCP 0 1 1

Condition and significance breakdown #

Total conditions: 179
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Condition pathogenic likely pathogenic total
Mental retardation, autosomal dominant 7 8 3 11
Wiedemann-Steiner syndrome 2 2 4
Early infantile epileptic encephalopathy 11 0 3 3
Spinocerebellar ataxia, autosomal recessive 8 0 3 3
46,XY sex reversal, type 3 2 0 2
ATR-X syndrome; Mental retardation-hypotonic facies syndrome X-linked, 1 1 1 2
Autism, susceptibility to, 18 0 2 2
Ceroid lipofuscinosis neuronal 8 0 2 2
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease, demyelinating, type 1b; Charcot-Marie-Tooth disease dominant intermediate 3; Roussy-Lévy syndrome; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy 1, autosomal recessive 1 1 2
Cortical dysplasia, complex, with other brain malformations 5 0 2 2
Joubert syndrome 3 0 2 2
KAT6A syndrome 2 0 2
Leigh syndrome 0 2 2
Lymphedema, hereditary, III 0 2 2
Mowat-Wilson syndrome 0 2 2
Nicolaides-Baraitser syndrome 0 2 2
Noonan syndrome 1 1 1 2
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III 0 2 2
Pitt-Hopkins syndrome 1 1 2
Spastic paraplegia 4, autosomal dominant 1 1 2
Spastic paraplegia 7 0 2 2
Stargardt disease 1 2 0 2
2-aminoadipic 2-oxoadipic aciduria 0 1 1
46,XY sex reversal, type 6 0 1 1
Acyl-CoA dehydrogenase family, member 9, deficiency of 0 1 1
Alzheimer disease, type 3 1 0 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0 1 1
Angelman syndrome 0 1 1
Aortic aneurysm, familial thoracic 7 0 1 1
Aortic valve disorder 0 1 1
Ataxia-telangiectasia-like disorder 1 0 1 1
Bartter syndrome type 3 0 1 1
Bartter syndrome, type 1, antenatal 1 0 1
Beckwith-Wiedemann syndrome; Sotos syndrome 1 0 1 1
Benign scapuloperoneal muscular dystrophy with cardiomyopathy; Limb-girdle muscular dystrophy, type 1B; Congenital muscular dystrophy, LMNA-related 1 0 1
Bethlem myopathy 1 0 1 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 1 1
Bothnia retinal dystrophy 0 1 1
Brugada syndrome 1 0 1 1
Brugada syndrome 1; Long QT syndrome 3; Progressive familial heart block type 1A; Paroxysmal familial ventricular fibrillation 1; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10 0 1 1
CHARGE association 1 0 1
Cardiofaciocutaneous syndrome 1 0 1 1
Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0 1 1
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 0 1 1
Cerebellar ataxia, nonprogressive, with mental retardation 0 1 1
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 1 0 1
Charcot-Marie-Tooth disease type 2D; Distal hereditary motor neuronopathy type 5 0 1 1
Charcot-Marie-Tooth disease type 2K; Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease, recessive intermediate A 1 0 1
Charcot-Marie-Tooth disease, axonal, type 2Q 0 1 1
Charcot-Marie-Tooth disease, type 4C 1 0 1
Chromosome 2q32-q33 deletion syndrome 0 1 1
Cold-induced sweating syndrome 1 1 0 1
Combined oxidative phosphorylation deficiency 15 0 1 1
Combined oxidative phosphorylation deficiency 16 0 1 1
Combined oxidative phosphorylation deficiency 3 0 1 1
Common variable immunodeficiency 2 0 1 1
Cone dystrophy 4 0 1 1
Cone-rod dystrophy 13 0 1 1
Cone-rod dystrophy, X-linked 1 0 1 1
Congenital disorder of glycosylation type 2C 0 1 1
Cornelia de Lange syndrome 4 0 1 1
Cornelia de Lange syndrome 5 0 1 1
Cutis laxa-corneal clouding-oligophrenia syndrome 0 1 1
DOORS syndrome; Myoclonic epilepsy, familial infantile; Early infantile epileptic encephalopathy 16 0 1 1
Deafness, autosomal recessive 1A 0 1 1
Deafness, autosomal recessive 9 0 1 1
Dilated cardiomyopathy 1A; Familial hypertrophic cardiomyopathy 4 0 1 1
Dilated cardiomyopathy 1G; Familial hypertrophic cardiomyopathy 9 0 1 1
Dominant hereditary optic atrophy 0 1 1
Duchenne muscular dystrophy 0 1 1
Dyskeratosis congenita, autosomal recessive, 5 0 1 1
Early infantile epileptic encephalopathy 13 0 1 1
Early infantile epileptic encephalopathy 14 1 0 1
Early infantile epileptic encephalopathy 7 1 0 1
Early infantile epileptic encephalopathy 9 0 1 1
Ehlers-Danlos syndrome, type 3 0 1 1
Ehlers-Danlos syndrome, type 4; Ehlers-Danlos syndrome, type 3 0 1 1
Epilepsy, progressive myoclonic 6 0 1 1
Episodic ataxia type 2; Spinocerebellar ataxia 6 0 1 1
Familial Mediterranean fever 0 1 1
Familial hypertrophic cardiomyopathy 1; Myosin storage myopathy; Dilated cardiomyopathy 1S; Myopathy, distal, 1; Scapuloperoneal myopathy, MYH7-related 0 1 1
Familial restrictive cardiomyopathy 1; Dilated cardiomyopathy 1FF; Familial hypertrophic cardiomyopathy 7 0 1 1
Floating-Harbor syndrome 1 0 1
Generalized epilepsy and paroxysmal dyskinesia 0 1 1
Glanzmann thrombasthenia 1 0 1
Glutaric aciduria, type 2 1 0 1
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 0 1 1
Hemophagocytic lymphohistiocytosis, familial, 2 0 1 1
Hereditary factor IX deficiency disease 1 0 1
Hereditary factor VIII deficiency disease 0 1 1
Hereditary sensory neuropathy type IE 0 1 1
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities 1 0 1
Hypomyelinating leukodystrophy 7 0 1 1
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism 0 1 1
Immunodeficiency 31C 1 0 1
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia 0 1 1
Infantile GM1 gangliosidosis 1 0 1
Infantile neuroaxonal dystrophy 1 0 1
Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 0 1 1
Kabuki syndrome 1 1 0 1
Kabuki syndrome 2 0 1 1
Late-onset retinal degeneration 0 1 1
Leber congenital amaurosis 16 0 1 1
Leber congenital amaurosis 7 0 1 1
Leukodystrophy, hypomyelinating, 6 0 1 1
Li-Fraumeni syndrome 1 1 0 1
Limb-girdle muscular dystrophy, type 2A 1 0 1
Limb-girdle muscular dystrophy, type 2B 0 1 1
Limb-girdle muscular dystrophy, type 2G 0 1 1
Limb-girdle muscular dystrophy, type 2J; Myopathy, early-onset, with fatal cardiomyopathy 0 1 1
Limb-girdle muscular dystrophy, type 2L; Miyoshi muscular dystrophy 3 0 1 1
Lipoyltransferase 1 deficiency 1 0 1
Lissencephaly 3 0 1 1
Liver failure acute infantile 0 1 1
Loeys-Dietz syndrome 2 0 1 1
Lymphedema, primary, with myelodysplasia 1 0 1
Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 0 1 1
Macrocephaly/autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1 0 1 1
Medulloblastoma 1 0 1
Megalencephaly cutis marmorata telangiectatica congenita 0 1 1
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 1 0 1
Mental retardation with language impairment and with or without autistic features 0 1 1
Mental retardation, X-linked 93 0 1 1
Mental retardation, X-linked, syndromic, Turner type 0 1 1
Mental retardation, autosomal dominant 13 0 1 1
Mental retardation, autosomal dominant 19 0 1 1
Mental retardation, autosomal dominant 5 1 0 1
Mental retardation, autosomal dominant 6 1 0 1
Merosin deficient congenital muscular dystrophy 1 0 1
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 0 1
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy 0 1 1
Mitochondrial DNA depletion syndrome, hepatocerebral form 0 1 1
Miyoshi muscular dystrophy 1; Limb-girdle muscular dystrophy, type 2B; Myopathy, distal, with anterior tibial onset 0 1 1
Multiple fibrofolliculomas 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 0 1 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 1 0 1
Myasthenia, limb-girdle, familial 0 1 1
Neurofibromatosis, type 1 0 1 1
Niemann-Pick disease type C1 0 1 1
Non-ketotic hyperglycinemia 0 1 1
Noonan syndrome 3 1 0 1
Noonan syndrome-like disorder with loose anagen hair 1 0 1 1
Oculocutaneous albinism type 4 0 1 1
Oculofaciocardiodental syndrome 0 1 1
Pachyonychia congenita 1 0 1 1
Paragangliomas 1 1 0 1
Paragangliomas 4 1 0 1
Parkinson disease 11 0 1 1
Partial androgen insensitivity syndrome 1 0 1
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency 0 1 1
Primary autosomal recessive microcephaly 3 0 1 1
Progressive myositis ossificans 0 1 1
Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C 0 1 1
Pseudoneonatal adrenoleukodystrophy 0 1 1
Pyridoxine-dependent epilepsy 0 1 1
Retinitis pigmentosa 12 0 1 1
Retinitis pigmentosa 26 1 0 1
Retinitis pigmentosa 37 0 1 1
Retinitis pigmentosa 38 0 1 1
Retinitis pigmentosa 39 0 1 1
Retinitis pigmentosa 49 1 0 1
SHORT syndrome 1 0 1
Severe combined immunodeficiency due to ADA deficiency 0 1 1
Sotos syndrome 1 0 1 1
Spastic ataxia Charlevoix-Saguenay type 0 1 1
Spastic paraplegia 13 0 1 1
Spastic paraplegia 35 0 1 1
Spinal muscular atrophy, distal, autosomal recessive, 1 0 1 1
Spinocerebellar ataxia 29 0 1 1
Spinocerebellar ataxia autosomal recessive 1 0 1 1
Symmetrical dyschromatosis of extremities 0 1 1
TNF receptor-associated periodic fever syndrome (TRAPS) 1 0 1
Testosterone 17-beta-dehydrogenase deficiency 0 1 1
Tumoral calcinosis, familial, hyperphosphatemic 0 1 1
Usher syndrome, type 2A 0 1 1
Wilson disease 1 0 1
X-linked mental retardation with marfanoid habitus syndrome; FG syndrome; Ohdo syndrome, X-linked 0 1 1
X-linked severe combined immunodeficiency 1 0 1
Young Simpson syndrome 0 1 1

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