ClinVar Miner

Variants from Clinical Genomics Program, Stanford Medicine

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
69 37 102 0 0 208

Gene and significance breakdown #

Total genes and gene combinations: 159
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ALMS1 0 0 5 5
AMPD1 0 0 4 4
KMT2D 3 1 0 4
SLC22A5 0 1 3 4
ALPK3 0 0 3 3
DSP 0 0 3 3
HFE 2 0 1 3
KMT2A 1 1 1 3
MYBPC3 1 2 0 3
RBM20 0 0 3 3
TTN 0 2 1 3
ABCA3 1 0 1 2
AGL 0 0 2 2
ARID1B 2 0 0 2
BTD 2 0 0 2
CDH23 2 0 0 2
CEP104 0 0 2 2
FHOD3 0 0 2 2
FLNC 0 1 1 2
GJB2 2 0 0 2
GNB1 1 1 0 2
GRIN1 1 0 1 2
GRIN2B 1 0 1 2
LDLR 2 0 0 2
MYH7 0 0 2 2
NFASC 0 2 0 2
PSAT1 0 0 2 2
SCN3A 0 0 2 2
SLC6A8 0 0 2 2
SOS2 0 0 2 2
TBC1D24 2 0 0 2
TCOF1 0 1 1 2
USP9X 1 0 1 2
ACADVL 0 0 1 1
ACSF3 1 0 0 1
ACTB 1 0 0 1
ADSL 0 0 1 1
AHDC1 1 0 0 1
AKAP9, LOC129998788 0 0 1 1
ALDH5A1 1 0 0 1
ANK2 0 0 1 1
ARID1A 0 0 1 1
ATRX 0 0 1 1
BPTF 1 0 0 1
BRCA2 1 0 0 1
CACNA1A 0 1 0 1
CACNA1D 0 0 1 1
CAP2 0 0 1 1
CBL 0 1 0 1
CLCN4 0 1 0 1
CNOT1 0 0 1 1
COL3A1 0 1 0 1
COL4A1 0 0 1 1
COL4A5 1 0 0 1
CPT2, LOC129930561 1 0 0 1
CSNK2A1 1 0 0 1
CTCF 0 0 1 1
CTNNB1, LOC126806659 1 0 0 1
DDX3X 0 1 0 1
DEAF1 0 0 1 1
DYRK1A 1 0 0 1
EARS2 0 1 0 1
ELAC2 0 0 1 1
FANCA, LOC112486223 0 0 1 1
FANCA, ZNF276 0 0 1 1
FGFR2 0 1 0 1
FGFR3 0 0 1 1
FKRP 1 0 0 1
FLNA 0 0 1 1
FLNA, LOC107988032 0 0 1 1
GALT 1 0 0 1
GINS1 0 0 1 1
GINS1, LOC130065587 0 0 1 1
GLA, RPL36A-HNRNPH2 1 0 0 1
GRIA2 0 1 0 1
HDAC2 0 0 1 1
IQSEC2 0 0 1 1
IRF2BPL 1 0 0 1
JPH2 0 0 1 1
KANSL1 1 0 0 1
KAT6A 0 1 0 1
KCNA2 0 1 0 1
KCNH2 0 0 1 1
KCNJ2 0 0 1 1
KDM5B 0 1 0 1
LIX1L, LOC126805851, RBM8A 1 0 0 1
LMNA 0 0 1 1
LOC108281177, SOX2, SOX2-OT 1 0 0 1
LOC114827850, MYL2 0 0 1 1
LOC129996745, PHIP 1 0 0 1
LRBA 0 0 1 1
LRBA, MAB21L2 0 0 1 1
LZTR1 0 0 1 1
MAP2K1 1 0 0 1
MAPK8IP3 1 0 0 1
MAST1 0 0 1 1
MBD5 1 0 0 1
MECP2 1 0 0 1
MED12L, P2RY12 0 0 1 1
MED13L 1 0 0 1
MEF2C 0 1 0 1
MMACHC 1 0 0 1
MTOR 0 1 0 1
MYLK2 0 0 1 1
MYO6 0 1 0 1
NBAS 0 1 0 1
NCAPH2, SCO2 0 1 0 1
NOG 0 1 0 1
NR2F1 1 0 0 1
NSD2 1 0 0 1
OFD1 0 1 0 1
PKP2 0 0 1 1
POGZ 1 0 0 1
PPA2 0 0 1 1
PPOX 0 1 0 1
PPP2R5D 1 0 0 1
PRDM16 0 0 1 1
PSAP 0 1 0 1
PTCHD1 0 0 1 1
PUF60 1 0 0 1
PURA 1 0 0 1
RELN 0 0 1 1
RET 1 0 0 1
RNASEH2B 1 0 0 1
RPS7 1 0 0 1
SAMD9L 0 0 1 1
SCN10A 0 0 1 1
SDHA 0 0 1 1
SETD5 0 1 0 1
SMAD2 0 0 1 1
SMARCA4 0 0 1 1
SMC1A 0 0 1 1
SNRPB 1 0 0 1
SOS1 0 0 1 1
SPG7 1 0 0 1
STAT3 1 0 0 1
TAF1 0 0 1 1
TBCK 1 0 0 1
TBX19 0 0 1 1
TCF12 1 0 0 1
TCF4 1 0 0 1
TGFB3 0 0 1 1
THPO 0 1 0 1
TMEM70 0 0 1 1
TNFRSF13B 0 0 1 1
TRIM63 0 0 1 1
TRIO 0 1 0 1
TRPM4 0 0 1 1
TRPS1 1 0 0 1
TSC2 0 1 0 1
TUBB3 0 0 1 1
UBE2A 0 1 0 1
UBE4A 0 0 1 1
UPF3B 1 0 0 1
USP7 1 0 0 1
WAC 0 0 1 1
WASHC4 0 0 1 1
WDR45 1 0 0 1
ZNF462 1 0 0 1

Condition and significance breakdown #

Total conditions: 157
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Condition pathogenic likely pathogenic uncertain significance total
Alstrom syndrome 0 0 5 5
Kabuki syndrome 1 3 1 0 4
Muscle AMP deaminase deficiency 0 0 4 4
Renal carnitine transport defect 0 1 3 4
Arrhythmogenic right ventricular dysplasia 8 0 0 3 3
Cardiomyopathy, familial hypertrophic 27 0 0 3 3
Dilated cardiomyopathy 1DD 0 0 3 3
Dilated cardiomyopathy 1G 0 2 1 3
Hemochromatosis type 1 2 0 1 3
Hypertrophic cardiomyopathy 4 1 2 0 3
Wiedemann-Steiner syndrome 1 1 1 3
not provided 2 1 0 3
Autosomal recessive nonsyndromic hearing loss 1A 2 0 0 2
Biotinidase deficiency 2 0 0 2
Cardiomyopathy, familial hypertrophic, 28 0 0 2 2
Coffin-Siris syndrome 1 2 0 0 2
Combined immunodeficiency due to GINS1 deficiency 0 0 2 2
Creatine transporter deficiency 0 0 2 2
Dilated cardiomyopathy 1S 0 0 2 2
Fanconi anemia complementation group A 0 0 2 2
Glycogen storage disease type III 0 0 2 2
Heterotopia, periventricular, X-linked dominant 0 0 2 2
Hypercholesterolemia, familial, 1 2 0 0 2
Hypertrophic cardiomyopathy 1 0 0 2 2
Intellectual disability, autosomal dominant 42 1 1 0 2
Intellectual disability, autosomal dominant 6 1 0 1 2
Intellectual disability, autosomal dominant 8 1 0 1 2
Interstitial lung disease due to ABCA3 deficiency 1 0 1 2
Joubert syndrome 25 0 0 2 2
Neurodevelopmental disorder with central and peripheral motor dysfunction 0 2 0 2
Noonan syndrome 9 0 0 2 2
PSAT deficiency; Neu-Laxova syndrome 2 0 0 2 2
Treacher Collins syndrome 1 0 1 1 2
Usher syndrome type 1D 2 0 0 2
not specified 0 0 2 2
8q24.3 microdeletion syndrome 1 0 0 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 1 0 0 1
Acrocephalosyndactyly type I; Pfeiffer syndrome; Crouzon syndrome 0 1 0 1
Adenylosuccinate lyase deficiency 0 0 1 1
Aicardi-Goutieres syndrome 2 1 0 0 1
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 1 1
Andersen Tawil syndrome 0 0 1 1
Anophthalmia/microphthalmia-esophageal atresia syndrome 1 0 0 1
Arrhythmogenic right ventricular dysplasia 1 0 0 1 1
Arrhythmogenic right ventricular dysplasia 9 0 0 1 1
Ataxia-pancytopenia syndrome 0 0 1 1
Autism, susceptibility to, X-linked 4 0 0 1 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 22 0 1 0 1
Baraitser-Winter syndrome 1 1 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 1 0 0 1
Brachydactyly type B2; Symphalangism-brachydactyly syndrome; Tarsal-carpal coalition syndrome; Stapes ankylosis with broad thumbs and toes; Proximal symphalangism 1A 0 1 0 1
Brain small vessel disease 1 with or without ocular anomalies 0 0 1 1
Breast-ovarian cancer, familial, susceptibility to, 2 1 0 0 1
CACNA1A-associated disorders 0 1 0 1
CBL-related disorder 0 1 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 0 0 1
Cardiac arrhythmia, ankyrin-B-related 0 0 1 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 0 1 0 1
Cardiofaciocutaneous syndrome 3 1 0 0 1
Cardiomyopathy, dilated, 2E 0 0 1 1
Cardiomyopathy, dilated, 2I 0 0 1 1
Carnitine palmitoyl transferase II deficiency, myopathic form 1 0 0 1
Cerebro-costo-mandibular syndrome 1 0 0 1
Cobalamin C disease 1 0 0 1
Colobomatous microphthalmia-rhizomelic dysplasia syndrome 0 0 1 1
Combined immunodeficiency due to LRBA deficiency 0 0 1 1
Combined malonic and methylmalonic acidemia 1 0 0 1
Complex cortical dysplasia with other brain malformations 1 0 0 1 1
Congenital isolated adrenocorticotropic hormone deficiency 0 0 1 1
Congenital muscular hypertrophy-cerebral syndrome 0 0 1 1
DYRK1A-related intellectual disability syndrome 1 0 0 1
DeSanto-Shinawi syndrome due to WAC point mutation 0 0 1 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 0 0 1
Developmental and epileptic encephalopathy, 32 0 1 0 1
Developmental and epileptic encephalopathy, 62 0 0 1 1
Diamond-Blackfan anemia 8 1 0 0 1
Dilated cardiomyopathy 1A 0 0 1 1
Ehlers-Danlos syndrome, type 4 0 1 0 1
Epilepsy, familial focal, with variable foci 4 0 0 1 1
Episodic pain syndrome, familial, 2 0 0 1 1
FLNC-associated cardiomyopathy 0 1 0 1
Fabry disease 1 0 0 1
Familial temporal lobe epilepsy 7 0 0 1 1
Fibromatosis, gingival, 1 0 0 1 1
Hao-Fountain syndrome 1 0 0 1
Hereditary spastic paraplegia 7 1 0 0 1
Hogue-Janssens syndrome 1 1 0 0 1
Hypertrophic cardiomyopathy 10 0 0 1 1
Hypertrophic cardiomyopathy 26 0 0 1 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 1 0 0 1
Immunodeficiency, common variable, 2 0 0 1 1
Intellectual disability, X-linked 1 0 0 1 1
Intellectual disability, X-linked 102 0 1 0 1
Intellectual disability, X-linked 49 0 1 0 1
Intellectual disability, X-linked 99 0 0 1 1
Intellectual disability, X-linked 99, syndromic, female-restricted 1 0 0 1
Intellectual disability, X-linked, syndromic 33 0 0 1 1
Intellectual disability, autosomal dominant 1 1 0 0 1
Intellectual disability, autosomal dominant 14 0 0 1 1
Intellectual disability, autosomal dominant 16 0 0 1 1
Intellectual disability, autosomal dominant 20 0 1 0 1
Intellectual disability, autosomal dominant 24 0 0 1 1
Intellectual disability, autosomal recessive 43 0 0 1 1
Intellectual disability, autosomal recessive 65 0 1 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 1 0 1
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 0 0 1 1
Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 1 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 0 1
Joubert syndrome 10 0 1 0 1
Koolen-de Vries syndrome 1 0 0 1
Left ventricular noncompaction 8 0 0 1 1
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 0 1 0 1
Long QT syndrome 11 0 0 1 1
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 1 0 0 1
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 1 0 1
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 0 1 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 1 0 1
Mitochondrial complex II deficiency, nuclear type 1 0 0 1 1
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 0 0 1 1
Muenke syndrome 0 0 1 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 1 0 0 1
NSD2-associated disorder; atypical Wolf-Hirschhorn syndrome 1 0 0 1
Neurodegeneration with brain iron accumulation 5 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 1 0 0 1
Neurodevelopmental disorder with language impairment and behavioral abnormalities 0 1 0 1
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 1 0 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 1 0 0 1
Nizon-Isidor syndrome 0 0 1 1
Okur-Chung neurodevelopmental syndrome 1 0 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 1 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 1 0 0 1
Pitt-Hopkins syndrome 1 0 0 1
Primary familial hypertrophic cardiomyopathy 0 0 1 1
Progressive familial heart block type IB 0 0 1 1
Prostate cancer, hereditary, 2 0 0 1 1
Radial aplasia-thrombocytopenia syndrome 1 0 0 1
Rett syndrome 1 0 0 1
SMAD2-congenital heart disease and multiple congenital anomaly disorder 0 0 1 1
STAT3-related early-onset multisystem autoimmune disease 1 0 0 1
Schwannomatosis 2 0 0 1 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 1
Short QT syndrome type 1 0 0 1 1
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome; Infantile liver failure syndrome 2 0 1 0 1
Succinate-semialdehyde dehydrogenase deficiency 1 0 0 1
Sudden cardiac failure, alcohol-induced 0 0 1 1
Syndromic X-linked intellectual disability 14 1 0 0 1
Syndromic X-linked intellectual disability Nascimento type 0 1 0 1
TCF12-related craniosynostosis 1 0 0 1
Thrombocythemia 1 0 1 0 1
Trichorhinophalangeal dysplasia type I 1 0 0 1
Tuberous sclerosis 2 0 1 0 1
Variegate porphyria 0 1 0 1
Very long chain acyl-CoA dehydrogenase deficiency 0 0 1 1
Vissers-Bodmer syndrome 0 0 1 1
Weiss-kruszka syndrome 1 0 0 1
X-linked Alport syndrome 1 0 0 1

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