ClinVar Miner

Variants from HudsonAlpha Institute for Biotechnology

Location: United States — Primary collection method: research
Minimum submission review status: Collection method:
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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
202 78 99 19 0 398

Gene and significance breakdown #

Total genes and gene combinations: 248
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
BRCA2 7 1 0 0 8
CFTR 5 1 0 0 6
MTOR 3 0 2 0 5
ANKRD11 3 1 0 0 4
ARID1B 4 0 0 0 4
BRSK2 0 0 4 0 4
HEXA 4 0 0 0 4
KCNQ1 4 0 0 0 4
LOC102724058, SCN1A 2 0 1 1 4
MYBPC3 4 0 0 0 4
SLC2A1 1 2 1 0 4
TCF4 3 0 1 0 4
ARX 1 0 1 1 3
BRCA1 3 0 0 0 3
CACNA1A 0 2 1 0 3
CREBBP 1 2 0 0 3
FOXG1 2 1 0 0 3
GRIN2B 1 2 0 0 3
HBB, LOC106099062, LOC107133510 3 0 0 0 3
ITPR1 1 0 2 0 3
MECP2 3 0 0 0 3
MED13L 3 0 0 0 3
PKP2 3 0 0 0 3
SCN8A 1 1 1 0 3
SLC22A5 3 0 0 0 3
SPG11 3 0 0 0 3
ULK4 0 0 0 3 3
ZEB2 2 1 0 0 3
ACTN1 1 1 0 0 2
ADA2 2 0 0 0 2
ALG1 0 2 0 0 2
ANK2 0 1 1 0 2
ASPM 0 0 0 2 2
ASXL3 1 0 1 0 2
ATP7B 0 2 0 0 2
ATRX 0 0 2 0 2
BARD1 2 0 0 0 2
BRPF1 0 2 0 0 2
CAPN3 0 1 1 0 2
CEP120 0 1 1 0 2
CFTR, LOC111674475 2 0 0 0 2
CHAT 0 0 2 0 2
CHD2 2 0 0 0 2
CHD7 1 0 1 0 2
CLPB 2 0 0 0 2
CTNND2 0 0 2 0 2
DCHS1 0 0 0 2 2
DDX3X 2 0 0 0 2
DENND5A 0 2 0 0 2
DHCR7 2 0 0 0 2
DNMT3A 0 1 1 0 2
DSG2 1 1 0 0 2
DYRK1A 2 0 0 0 2
EBF3 2 0 0 0 2
EHMT1 1 1 0 0 2
EVC 1 1 0 0 2
FYCO1 2 0 0 0 2
GLB1 2 0 0 0 2
GMPPB 2 0 0 0 2
GRIA3 0 0 0 2 2
HCFC1 1 0 1 0 2
HDAC8 1 1 0 0 2
KCNQ2 2 0 0 0 2
KCNT1 0 0 0 2 2
KDM5B 0 0 2 0 2
KIF1A 2 0 0 0 2
LDLR 1 1 0 0 2
MAGEL2 2 0 0 0 2
MME 0 0 2 0 2
MMUT 0 0 2 0 2
MYH7 1 0 1 0 2
NAA15 2 0 0 0 2
NBEA 0 2 0 0 2
NF1 1 0 1 0 2
NOTCH2 2 0 0 0 2
NRXN1 0 0 0 2 2
OCA2 2 0 0 0 2
PCNX2 0 0 2 0 2
PIGO 0 1 1 0 2
PLEC 0 0 2 0 2
PMS2 2 0 0 0 2
PREX2 0 0 2 0 2
PUF60 2 0 0 0 2
RALA 1 0 1 0 2
RASGRF1 0 0 2 0 2
RYR1 2 0 0 0 2
SATB2 2 0 0 0 2
SCN2A 2 0 0 0 2
SCN5A 1 1 0 0 2
SLC1A4 2 0 0 0 2
SMARCA2 1 1 0 0 2
SNX14 2 0 0 0 2
SYNGAP1 1 0 1 0 2
TELO2 1 1 0 0 2
TPP1 2 0 0 0 2
TRAPPC9 0 0 2 0 2
UNC80 0 2 0 0 2
WARS2 0 2 0 0 2
WDFY3 0 0 2 0 2
WDR26 0 2 0 0 2
WDR45 1 1 0 0 2
ZBTB18 0 2 0 0 2
ZMIZ1 1 0 1 0 2
ACTC1, LOC101928174 0 1 0 0 1
ACTL6B 0 0 1 0 1
ADNP 1 0 0 0 1
AFDN 0 0 1 0 1
AFF3 1 0 0 0 1
AHDC1 1 0 0 0 1
ALDH18A1 0 0 1 0 1
APC 1 0 0 0 1
APOB 1 0 0 0 1
ARID1A 1 0 0 0 1
ARID2 1 0 0 0 1
ATP7A 0 0 1 0 1
AUTS2 0 1 0 0 1
BAZ2B 0 0 1 0 1
BICD2 0 1 0 0 1
BRAF 1 0 0 0 1
CACNA1E 0 0 1 0 1
CBL 0 1 0 0 1
CDK13 1 0 0 0 1
CDKL5 0 1 0 0 1
CHD3 0 0 1 0 1
CHEK2 0 0 1 0 1
CIZ1, DNM1 1 0 0 0 1
CLCN1 1 0 0 0 1
CLCNKB 1 0 0 0 1
CLCNKB, LOC106501713 0 0 1 0 1
COL6A3 0 0 1 0 1
CSMD1 0 0 0 1 1
CSTB 1 0 0 0 1
CTR9 0 0 1 0 1
CTSA 0 0 0 1 1
CUL4B 0 0 1 0 1
CYFIP2 0 0 1 0 1
DDX41 1 0 0 0 1
DEAF1 1 0 0 0 1
DHX30 1 0 0 0 1
DLG3 0 1 0 0 1
DNAJC28 0 0 1 0 1
DYNC1H1 1 0 0 0 1
EP300 1 0 0 0 1
FBLN5 0 1 0 0 1
FBN1 1 0 0 0 1
FGF12 1 0 0 0 1
FOXP4 0 0 1 0 1
GABRA1 0 0 1 0 1
GATA6 1 0 0 0 1
GH-LCR, SCN4A 1 0 0 0 1
GJB2 1 0 0 0 1
GLI3 0 0 1 0 1
GNAO1 0 0 1 0 1
GRIK4 0 1 0 0 1
GRIK4, LOC101929208 0 1 0 0 1
GRIN2A 0 1 0 0 1
GRIPAP1 0 0 0 1 1
HARS1 1 0 0 0 1
HECTD4 0 0 1 0 1
HNRNPK 0 1 0 0 1
HNRNPU 0 1 0 0 1
IQGAP1 0 0 1 0 1
IRAK1BP1, PHIP 1 0 0 0 1
JMJD1C 0 0 1 0 1
KAT2B 0 0 1 0 1
KCNMA1 0 1 0 0 1
KCNQ3 1 0 0 0 1
KDM1A 0 0 1 0 1
KDM5C 1 0 0 0 1
KIDINS220 0 0 1 0 1
KMT2A 1 0 0 0 1
KMT2C 0 1 0 0 1
KMT5B 0 1 0 0 1
LAMA2 0 1 0 0 1
MACF1 0 0 1 0 1
MAPK8IP3 0 0 1 0 1
MAST1 0 1 0 0 1
MC4R 1 0 0 0 1
MEA1, PPP2R5D 1 0 0 0 1
MED12 0 1 0 0 1
MED12L 0 0 1 0 1
MED13 1 0 0 0 1
MEF2C 1 0 0 0 1
MFF 1 0 0 0 1
MFN2 1 0 0 0 1
MID2 0 0 1 0 1
MLH1 1 0 0 0 1
MSH2 1 0 0 0 1
MSH6 1 0 0 0 1
MUTYH 1 0 0 0 1
MYH6 0 0 1 0 1
MYRF 0 1 0 0 1
MYT1L 0 1 0 0 1
NALCN 0 0 1 0 1
NDP 1 0 0 0 1
NET1 0 0 1 0 1
NEXMIF 1 0 0 0 1
NTRK2 1 0 0 0 1
OPHN1 0 1 0 0 1
PACS1 1 0 0 0 1
PAX5 0 0 1 0 1
PAX6 1 0 0 0 1
PDHA1 0 1 0 0 1
PEX26 1 0 0 0 1
PHF6 1 0 0 0 1
PIGA 0 1 0 0 1
PKD2 1 0 0 0 1
POGZ 0 1 0 0 1
PPP2R1A 0 1 0 0 1
PRKAG2 1 0 0 0 1
PTEN 0 0 1 0 1
PTPN11 0 0 0 1 1
PURA 0 1 0 0 1
RERE 0 0 1 0 1
RET 1 0 0 0 1
RIT1 1 0 0 0 1
ROCK2 0 0 1 0 1
RPH3A 0 0 1 0 1
RUFY3 0 0 1 0 1
SCN1A 1 0 0 0 1
SDHA 1 0 0 0 1
SETD5 0 0 1 0 1
SHANK2 1 0 0 0 1
SHANK3 0 0 1 0 1
SHOC2 1 0 0 0 1
SLC4A1 1 0 0 0 1
SLC6A1 0 0 1 0 1
SMARCA4 1 0 0 0 1
SMC1A 0 0 1 0 1
SMC3 0 1 0 0 1
SOX5 1 0 0 0 1
SPR 0 0 1 0 1
STXBP1 1 0 0 0 1
SYNJ2 0 0 1 0 1
SYT1 0 1 0 0 1
TBL1XR1 1 0 0 0 1
TBR1 0 1 0 0 1
TCF20 1 0 0 0 1
TOR1A 0 1 0 0 1
TPM3 0 0 1 0 1
TRIO 1 0 0 0 1
TTPA 0 1 0 0 1
TUBB 1 0 0 0 1
TUBB2B 0 0 1 0 1
YWHAZ 0 0 1 0 1
ZDHHC9 0 0 1 0 1
ZMYND11 1 0 0 0 1
ZNF462 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 205
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
not specified 1 2 35 1 39
not provided 9 9 8 1 27
Breast-ovarian cancer, familial 2 7 1 0 0 8
Cystic fibrosis 7 1 0 0 8
Severe myoclonic epilepsy in infancy 3 0 1 1 5
Smith-Kingsmore syndrome 3 0 2 0 5
Coffin-Siris syndrome 1 4 0 0 0 4
Familial hypertrophic cardiomyopathy 4 4 0 0 0 4
KBG syndrome 3 1 0 0 4
Long QT syndrome 1 4 0 0 0 4
Pitt-Hopkins syndrome 3 0 1 0 4
Tay-Sachs disease 4 0 0 0 4
Arrhythmogenic right ventricular cardiomyopathy, type 9 3 0 0 0 3
Breast-ovarian cancer, familial 1 3 0 0 0 3
Early infantile epileptic encephalopathy 13 1 1 1 0 3
Familial cancer of breast 2 0 1 0 3
Intellectual disability, moderate 0 0 0 3 3
Mental retardation and distinctive facial features with or without cardiac defects 3 0 0 0 3
Mowat-Wilson syndrome 2 1 0 0 3
Renal carnitine transport defect 3 0 0 0 3
Rett syndrome 3 0 0 0 3
Rett syndrome, congenital variant 2 1 0 0 3
Rubinstein-Taybi syndrome 1 1 2 0 0 3
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2 0 0 0 2
Bainbridge-Ropers syndrome 1 0 1 0 2
Bartter syndrome type 3 1 0 1 0 2
CHARGE association 1 0 1 0 2
Cataract, autosomal recessive congenital 2 2 0 0 0 2
Ceroid lipofuscinosis neuronal 2 2 0 0 0 2
Charcot-Marie-Tooth disease, axonal type 2X 2 0 0 0 2
Charcot-Marie-Tooth disease, axonal, type 2T 0 0 2 0 2
Chondroectodermal dysplasia 1 1 0 0 2
Chromosome 2q32-q33 deletion syndrome 2 0 0 0 2
Chromosome 9q deletion syndrome 1 1 0 0 2
Congenital disorder of glycosylation type 1K 0 2 0 0 2
Cornelia de Lange syndrome 5 1 1 0 0 2
Dilated cardiomyopathy 1BB 1 1 0 0 2
Early infantile epileptic encephalopathy 11 2 0 0 0 2
Early infantile epileptic encephalopathy 14 0 0 0 2 2
Early infantile epileptic encephalopathy 7 2 0 0 0 2
Epileptic encephalopathy, childhood-onset 2 0 0 0 2
Epileptic encephalopathy, early infantile, 1 1 0 1 0 2
Epileptic encephalopathy, early infantile, 49 0 2 0 0 2
Episodic ataxia type 2 0 1 1 0 2
Familial hypercholesterolemia 1 1 0 0 2
Familial hypertrophic cardiomyopathy 1 1 0 1 0 2
Familial infantile myasthenia 0 0 2 0 2
GLUT1 deficiency syndrome 1 1 1 0 0 2
GLUT1 deficiency syndrome 2 0 1 1 0 2
GM1 gangliosidosis type 2 2 0 0 0 2
Hajdu-Cheney syndrome 2 0 0 0 2
Hereditary nonpolyposis colorectal cancer type 4 2 0 0 0 2
Hyperphosphatasia with mental retardation syndrome 2 0 1 1 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 2 0 0 2
Intellectual developmental disorder with dysmorphic facies and ptosis 0 2 0 0 2
Limb-girdle muscular dystrophy, type 2A 0 1 1 0 2
Limb-girdle muscular dystrophy, type 2Q 0 0 2 0 2
Long QT syndrome 3 1 1 0 0 2
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 2 0 0 0 2
Mental retardation 3, X-linked 1 0 1 0 2
Mental retardation, X-linked 102 2 0 0 0 2
Mental retardation, X-linked, syndromic, wu type 0 0 0 2 2
Mental retardation, autosomal dominant 22 0 2 0 0 2
Mental retardation, autosomal dominant 5 1 0 1 0 2
Mental retardation, autosomal dominant 7 2 0 0 0 2
Mental retardation, autosomal dominant 9 2 0 0 0 2
Mental retardation, autosomal recessive 13 0 0 2 0 2
Mental retardation-hypotonic facies syndrome X-linked, 1 0 0 2 0 2
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 0 0 2 0 2
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 2 0 0 0 2
Neurodegeneration with brain iron accumulation 5 1 1 0 0 2
Neurofibromatosis, type 1 1 0 1 0 2
Nicolaides-Baraitser syndrome 1 1 0 0 2
Pitt-Hopkins-like syndrome 2 0 0 0 2 2
Platelet-type bleeding disorder 15 1 1 0 0 2
Primary autosomal recessive microcephaly 5 0 0 0 2 2
SKRABAN-DEARDORFF SYNDROME 0 2 0 0 2
Schaaf-yang syndrome 2 0 0 0 2
Short-rib thoracic dysplasia 13 with or without polydactyly 0 1 1 0 2
Smith-Lemli-Opitz syndrome 2 0 0 0 2
Spastic paraplegia 11, autosomal recessive 2 0 0 0 2
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly 2 0 0 0 2
Spinocerebellar ataxia 15 1 0 1 0 2
Spinocerebellar ataxia, autosomal recessive 20 2 0 0 0 2
Tatton-Brown-rahman syndrome 0 1 1 0 2
Tyrosinase-positive oculocutaneous albinism 2 0 0 0 2
Van Maldergem syndrome 1 0 0 0 2 2
Verheij syndrome 2 0 0 0 2
Wilson disease 0 2 0 0 2
You-Hoover-Fong syndrome 1 1 0 0 2
beta Thalassemia 2 0 0 0 2
22q13.3 deletion syndrome 0 0 1 0 1
AU-KLINE SYNDROME 0 1 0 0 1
Age-related macular degeneration 3 0 1 0 0 1
Aniridia 1 1 0 0 0 1
Ataxia with vitamin E deficiency 0 1 0 0 1
Atrial septal defect 3 0 0 1 0 1
Atrophia bulborum hereditaria 1 0 0 0 1
Autism 17 1 0 0 0 1
Benign familial neonatal seizures 2 1 0 0 0 1
Bethlem myopathy 1 0 0 1 0 1
Borjeson-Forssman-Lehmann syndrome 1 0 0 0 1
Cardiac arrhythmia, ankyrin B-related 0 1 0 0 1
Cardiofaciocutaneous syndrome 1 1 0 0 0 1
Charcot-Marie-Tooth disease, axonal, type 2w 1 0 0 0 1
Charcot-Marie-Tooth disease, type 2A2A 1 0 0 0 1
Cleft palate, psychomotor retardation, and distinctive facial features 0 0 1 0 1
Combined deficiency of sialidase AND beta galactosidase 0 0 0 1 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 0 1 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 0 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 0 1 0 1
Congenital myotonia, autosomal dominant form 1 0 0 0 1
Cornelia de Lange syndrome 3 0 1 0 0 1
Cortical dysplasia, complex, with other brain malformations 6 1 0 0 0 1
Deafness, autosomal recessive 1A 1 0 0 0 1
Dilated cardiomyopathy 1R 0 1 0 0 1
Dystonia 1 0 1 0 0 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 1 0 0 0 1
Early infantile epileptic encephalopathy 2 0 1 0 0 1
Early infantile epileptic encephalopathy 4 1 0 0 0 1
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 1 0 0 0 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 1 0 0 1
Epileptic encephalopathy, early infantile, 19 0 0 1 0 1
Epileptic encephalopathy, early infantile, 27 1 0 0 0 1
Epileptic encephalopathy, early infantile, 31 1 0 0 0 1
Epileptic encephalopathy, early infantile, 42 0 1 0 0 1
Epileptic encephalopathy, early infantile, 47 1 0 0 0 1
Epileptic encephalopathy, early infantile, 54 0 1 0 0 1
FG syndrome 0 1 0 0 1
Familial adenomatous polyposis 1 1 0 0 0 1
Familial medullary thyroid carcinoma 1 0 0 0 1
Generalized epilepsy and paroxysmal dyskinesia 0 1 0 0 1
Greig cephalopolysyndactyly syndrome 0 0 1 0 1
Hb SS disease 1 0 0 0 1
Helsmoortel-Van der Aa Syndrome 1 0 0 0 1
Hereditary nonpolyposis colorectal cancer type 5 1 0 0 0 1
Hypercholesterolemia, autosomal dominant, type B 1 0 0 0 1
Hypotonia, ataxia, and delayed development syndrome 1 0 0 0 1
KLEEFSTRA SYNDROME 2 0 1 0 0 1
Lamb-shaffer syndrome 1 0 0 0 1
Leukemia, acute lymphoblastic, susceptibility to, 3 0 0 1 0 1
Lynch syndrome I 1 0 0 0 1
Lynch syndrome II 1 0 0 0 1
Macrocephaly/autism syndrome 0 0 1 0 1
Malignant hyperthermia, susceptibility to, 1 1 0 0 0 1
Marfan syndrome 1 0 0 0 1
Menkes kinky-hair syndrome 0 0 1 0 1
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance 0 1 0 0 1
Mental retardation, X-linked 101 0 0 1 0 1
Mental retardation, X-linked 98 1 0 0 0 1
Mental retardation, X-linked, syndromic, Raymond type 0 0 1 0 1
Mental retardation, autosomal dominant 13 1 0 0 0 1
Mental retardation, autosomal dominant 14 1 0 0 0 1
Mental retardation, autosomal dominant 16 1 0 0 0 1
Mental retardation, autosomal dominant 23 0 0 1 0 1
Mental retardation, autosomal dominant 24 1 0 0 0 1
Mental retardation, autosomal dominant 26 0 1 0 0 1
Mental retardation, autosomal dominant 30 1 0 0 0 1
Mental retardation, autosomal dominant 31 0 1 0 0 1
Mental retardation, autosomal dominant 35 1 0 0 0 1
Mental retardation, autosomal dominant 36 0 1 0 0 1
Mental retardation, autosomal dominant 39 0 1 0 0 1
Mental retardation, autosomal dominant 44 1 0 0 0 1
Mental retardation, autosomal dominant 6 0 1 0 0 1
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 0 1 0 0 1
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 1 0 0 0 1
Mental retardation, syndromic, Claes-Jensen type, X-linked 1 0 0 0 1
Mental retardation, with or without seizures, ARX-related, X-linked 0 0 0 1 1
Merosin deficient congenital muscular dystrophy 0 1 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 1 0 0 1
Muscular hypotonia; Intellectual disability (severe) 1 0 0 0 1
Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to 1 0 0 0 1
Myoclonic-atonic epilepsy 0 0 1 0 1
Myopathy, Central Core 1 0 0 0 1
Nemaline myopathy 1 0 0 1 0 1
Neurodevelopmental disorder with involuntary movements 0 0 1 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 1 0 1
Noonan syndrome 1 0 0 0 1 1
Noonan syndrome 8 1 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 1 1 0 0 0 1
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 0 1 0 0 1
Obesity 1 0 0 0 1
Pancreatic agenesis and congenital heart disease 1 0 0 0 1
Paragangliomas 5 1 0 0 0 1
Paramyotonia congenita of von Eulenburg 1 0 0 0 1
Peroxisome biogenesis disorder 7A 1 0 0 0 1
Pierpont syndrome 1 0 0 0 1
Pilomatrixoma 1 0 0 0 1
Polycystic kidney disease 2 1 0 0 0 1
Polymicrogyria, asymmetric 0 0 1 0 1
Pyruvate dehydrogenase E1-alpha deficiency 0 1 0 0 1
Rubinstein-Taybi syndrome 2 1 0 0 0 1
Schuurs-hoeijmakers syndrome 1 0 0 0 1
Sepiapterin reductase deficiency 0 0 1 0 1
Spastic paraplegia 9 0 0 1 0 1
Spherocytosis type 4 1 0 0 0 1
Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant 0 1 0 0 1
Spinocerebellar ataxia 29 0 0 1 0 1
Syndromic X-linked mental retardation, Cabezas type 0 0 1 0 1
Unverricht-Lundborg syndrome 1 0 0 0 1
White-sutton syndrome 0 1 0 0 1
Wiedemann-Steiner syndrome 1 0 0 0 1
Wolff-Parkinson-White pattern 1 0 0 0 1
X-Linked mental retardation 90 0 1 0 0 1
Xia-Gibbs syndrome 1 0 0 0 1

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