ClinVar Miner

Variants from UCLA Clinical Genomics Center, UCLA

Location: United States  Primary collection method: clinical testing
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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: 178
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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
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
TUBB2A 0 2 2
USH2A 0 2 2
ZEB2 0 2 2
ABCA4 1 0 1
ACAD9, CFAP92 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, LOC126806659 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
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, LOC130000622 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, SLC35D2-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
KAT6B 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
LOC112840921, OTOF 0 1 1
LOC126806424, TTN 0 1 1
LOC126807619, NSD1 0 1 1
LOC126860971, POLR3A 0 1 1
LOC126862264, MEFV 0 1 1
LOC129935183, TTN 0 1 1
MAP2K2 0 1 1
MAP3K1 0 1 1
MED12 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
NSD1 0 1 1
OPA1 0 1 1
PCDH19 0 1 1
PDE6C 0 1 1
PIK3CA 0 1 1
PIK3R1 1 0 1
PLA2G6 1 0 1
POLG, POLGARF 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
DYRK1A-related intellectual disability syndrome 8 3 11
Wiedemann-Steiner syndrome 2 2 4
Autosomal recessive ataxia, Beauce type 0 3 3
Developmental and epileptic encephalopathy, 11 0 3 3
46,XY sex reversal 3 2 0 2
Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 1 1 2
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D; Roussy-Lévy syndrome; Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4E 1 1 2
Complex cortical dysplasia with other brain malformations 5 0 2 2
Hereditary spastic paraplegia 4 1 1 2
Hereditary spastic paraplegia 7 0 2 2
Intellectual developmental disorder with autism and macrocephaly 0 2 2
Joubert syndrome 3 0 2 2
KAT6A syndrome 2 0 2
Leigh syndrome 0 2 2
Lymphatic malformation 6 0 2 2
Mowat-Wilson syndrome 0 2 2
Neuronal ceroid lipofuscinosis 8 0 2 2
Nicolaides-Baraitser syndrome 0 2 2
Noonan syndrome 1 1 1 2
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III 0 2 2
Pitt-Hopkins syndrome 1 1 2
Severe early-childhood-onset retinal dystrophy 2 0 2
2-aminoadipic 2-oxoadipic aciduria 0 1 1
46,XY sex reversal 6 0 1 1
ALDH18A1-related de Barsy syndrome 0 1 1
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 0 1 1
Acyl-CoA dehydrogenase 9 deficiency 0 1 1
Acyl-CoA oxidase deficiency 0 1 1
Alzheimer disease 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 disease 1 0 1 1
Ataxia-telangiectasia-like disorder 1 0 1 1
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 1 0 1
Autosomal dominant optic atrophy classic form 0 1 1
Autosomal recessive distal spinal muscular atrophy 1 0 1 1
Autosomal recessive limb-girdle muscular dystrophy type 2A 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 1 1
Autosomal recessive limb-girdle muscular dystrophy type 2G 0 1 1
Autosomal recessive limb-girdle muscular dystrophy type 2J; Early-onset myopathy with fatal cardiomyopathy 0 1 1
Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3 0 1 1
Autosomal recessive nonsyndromic hearing loss 1A 0 1 1
Autosomal recessive nonsyndromic hearing loss 9 0 1 1
Bartter disease type 1 1 0 1
Bartter disease type 3 0 1 1
Beckwith-Wiedemann syndrome; Sotos syndrome 0 1 1
Bethlem myopathy 1A 0 1 1
Birt-Hogg-Dube syndrome 1 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 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; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; Atrial fibrillation, familial, 10 0 1 1
CHARGE association 1 0 1
Cardiofaciocutaneous syndrome 1 0 1 1
Cardiomyopathy, familial restrictive, 1; Dilated cardiomyopathy 1FF; Hypertrophic cardiomyopathy 7 0 1 1
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 0 1 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 1 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 1 0 1
Charcot-Marie-Tooth disease axonal 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 2D; Neuronopathy, distal hereditary motor, type 5A 0 1 1
Charcot-Marie-Tooth disease type 4C 1 0 1
Charlevoix-Saguenay spastic ataxia 0 1 1
Chromosome 2q32-q33 deletion syndrome 0 1 1
Cold-induced sweating syndrome 1 1 0 1
Combined oxidative phosphorylation defect type 15 0 1 1
Cone dystrophy 4 0 1 1
Cone-rod dystrophy 13 0 1 1
Congenital myasthenic syndrome 10 0 1 1
Cornelia de Lange syndrome 4 0 1 1
Cornelia de Lange syndrome 5 0 1 1
DOORS syndrome; Familial infantile myoclonic epilepsy; Developmental and epileptic encephalopathy, 16 0 1 1
Deafness-lymphedema-leukemia syndrome 1 0 1
Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 0 1 1
Developmental and epileptic encephalopathy, 13 0 1 1
Developmental and epileptic encephalopathy, 14 1 0 1
Developmental and epileptic encephalopathy, 7 1 0 1
Developmental and epileptic encephalopathy, 9 0 1 1
Dilated cardiomyopathy 1A; Hypertrophic cardiomyopathy 4 0 1 1
Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 0 1 1
Duchenne muscular dystrophy 0 1 1
Dyskeratosis congenita, autosomal recessive 5 0 1 1
Ehlers-Danlos syndrome, type 3 0 1 1
Ehlers-Danlos syndrome, type 4; Ehlers-Danlos syndrome, type 3 0 1 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Congenital muscular dystrophy due to LMNA mutation 1 0 1
Episodic ataxia type 2; Spinocerebellar ataxia type 6 0 1 1
FADD-related immunodeficiency 0 1 1
Familial Mediterranean fever 0 1 1
Familial hemophagocytic lymphohistiocytosis 2 0 1 1
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome 0 1 1
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 0 1 1
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 4C 0 1 1
Floating-Harbor syndrome 1 0 1
Generalized epilepsy-paroxysmal dyskinesia syndrome 0 1 1
Glanzmann thrombasthenia 1 0 1
Hereditary factor IX deficiency disease 1 0 1
Hereditary factor VIII deficiency disease 0 1 1
Hereditary sensory neuropathy-deafness-dementia syndrome 0 1 1
Hereditary spastic paraplegia 13 0 1 1
Hereditary spastic paraplegia 35 0 1 1
Hypertrophic cardiomyopathy 1; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 0 1 1
Hypomyelinating leukodystrophy 6 0 1 1
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 1 1
Immunodeficiency, common variable, 2 0 1 1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 0 1 1
Infantile GM1 gangliosidosis 1 0 1
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 0 1 1
Infantile neuroaxonal dystrophy 1 0 1
Intellectual disability, X-linked 93 0 1 1
Intellectual disability, X-linked syndromic, Turner type 0 1 1
Intellectual disability, autosomal dominant 13 0 1 1
Intellectual disability, autosomal dominant 5 1 0 1
Intellectual disability, autosomal dominant 6 1 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 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
Leukocyte adhesion deficiency type II 0 1 1
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 0 1 1
Li-Fraumeni syndrome 1 1 0 1
Lipoyl transferase 1 deficiency 1 0 1
Lissencephaly due to TUBA1A mutation 0 1 1
Loeys-Dietz syndrome 2 0 1 1
Macrocephaly-autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1 0 1 1
Mandibulofacial dysostosis-microcephaly syndrome 0 1 1
Medulloblastoma 1 0 1
Megalencephaly-capillary malformation-polymicrogyria syndrome 0 1 1
Merosin deficient congenital muscular dystrophy 1 0 1
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 0 1
Microcephaly 3, primary, autosomal recessive 0 1 1
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) 0 1 1
Mitochondrial DNA depletion syndrome 8a 0 1 1
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 0 1 1
Multiple acyl-CoA dehydrogenase deficiency 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14; Autosomal recessive limb-girdle muscular dystrophy type 2T 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 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, autosomal dominant, susceptibility to 0 1 1
Partial androgen insensitivity syndrome 1 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0 1 1
Progressive myoclonic epilepsy type 6 0 1 1
Progressive myositis ossificans 0 1 1
Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C 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, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 0 1 1
Severe intellectual disability-progressive spastic diplegia syndrome 0 1 1
Sotos syndrome 0 1 1
Spinocerebellar ataxia type 29 0 1 1
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 1 1
Symmetrical dyschromatosis of extremities 0 1 1
Syndromic X-linked intellectual disability Najm type 1 0 1
TNF receptor-associated periodic fever syndrome (TRAPS) 1 0 1
Testosterone 17-beta-dehydrogenase deficiency 0 1 1
Usher syndrome type 2A 0 1 1
Wilson disease 1 0 1
Woodhouse-Sakati syndrome 1 0 1
X-linked cone-rod dystrophy 1 0 1 1
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type 0 1 1
X-linked severe combined immunodeficiency 1 0 1

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