ClinVar Miner

Variants from Biesecker Lab/Clinical Genomics Section,National Institutes of Health

Location: United States — Primary collection method: research
Minimum submission review status: Collection method:
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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
26 16 1226 429 546 2243

Gene and significance breakdown #

Total genes and gene combinations: 116
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 0 0 362 175 218 755
RYR1 4 0 60 6 8 78
AKAP9 0 0 17 33 16 66
BRCA2 7 0 28 9 11 55
ANK2 0 0 21 17 13 51
DSP 0 0 20 17 12 49
APC 0 0 38 0 6 44
BRCA1 2 0 20 3 13 38
LAMA4 0 0 22 6 10 38
MYBPC3 2 0 19 7 10 38
RYR2 0 0 22 9 7 38
DSG2 0 0 14 7 12 33
MYH6 0 0 20 6 7 33
MYPN 0 0 16 6 10 32
PKP2 0 1 11 10 10 32
SCN5A 0 2 16 8 6 32
TMPO 0 0 13 5 9 27
TSC2 0 0 12 11 4 27
PMS2 0 1 13 0 12 26
CACNA1C 0 0 12 5 7 24
MET 0 0 20 0 4 24
MYH7 1 1 15 3 2 22
LDB3 0 0 10 3 7 20
ACTN2 0 0 14 3 2 19
MUTYH 2 2 10 0 5 19
VCL 0 0 13 6 0 19
ABCC9 0 0 10 6 2 18
BAG3 0 0 8 4 6 18
DSC2 0 0 9 5 4 18
KCNH2 0 0 7 6 4 17
TMEM43 0 0 9 2 6 17
DTNA 0 0 15 0 1 16
RET 1 0 10 1 4 16
TSC1 0 0 10 4 2 16
HCN4 0 0 11 2 2 15
MSH6 1 0 12 0 2 15
PTCH1 0 0 11 0 4 15
KCNA5 0 0 10 0 4 14
LOC101927055, TTN 0 0 5 1 8 14
MLH1 0 0 8 0 6 14
MSH2 0 0 12 0 2 14
JUP 0 0 10 0 3 13
NF1 0 0 11 0 2 13
PDGFRA 0 0 11 0 2 13
CACNB2, NSUN6 0 0 7 2 3 12
CASQ2 0 0 9 0 3 12
EYA4 0 0 9 1 2 12
PSEN2 0 0 8 3 1 12
SNTA1 0 0 10 1 1 12
MYLK2 0 0 8 2 1 11
FLCN 0 0 8 0 2 10
KCNQ1 1 1 2 5 1 10
KIT 0 0 9 0 1 10
ANKRD1 0 0 5 2 2 9
CDKN2A 0 0 7 0 2 9
SGCD 0 0 5 1 2 8
CACNB2 0 0 4 3 0 7
GPD1L 0 0 4 3 0 7
KCNE1 0 0 4 1 2 7
LMNA 0 0 3 1 3 7
CDH1 0 0 5 0 1 6
DES 0 0 4 0 2 6
LOC114827851, MYH6 0 0 3 0 3 6
MEN1 0 0 4 0 2 6
MYO1A 0 0 0 6 0 6
MYOZ2 0 0 5 1 0 6
SCN1B 0 0 2 0 4 6
TCAP 0 0 3 2 1 6
CALR3 0 0 2 1 2 5
FH 0 0 5 0 0 5
LOC100507346, PTCH1 0 0 5 0 0 5
PSEN1 0 0 3 0 2 5
SCN4B 0 0 4 1 0 5
SDHB 0 1 3 0 1 5
SDHC 1 0 2 0 2 5
TNNT2 0 0 4 0 1 5
BMPR1A 0 0 3 0 1 4
CAV3 0 0 1 2 1 4
EYA4, TARID 0 0 3 1 0 4
JPH2 0 0 3 0 1 4
KCNE2 0 0 2 1 1 4
MHRT, MYH7 0 0 3 0 1 4
MYL2 0 0 4 0 0 4
LDB3, LOC110121486 0 0 2 0 1 3
LOC110121269, SCN5A 0 0 1 0 2 3
NAA10 0 3 0 0 0 3
RB1 0 0 3 0 0 3
SCN2B 0 0 3 0 0 3
SCN3B 0 0 3 0 0 3
SDHD 0 0 2 0 1 3
TGFB3 0 0 2 1 0 3
CLUAP1 0 2 0 0 0 2
CSRP3 0 0 0 1 1 2
KCNE3 0 0 1 1 0 2
KCNJ2 0 0 2 0 0 2
SDHAF2 0 0 2 0 0 2
SMAD4 0 0 2 0 0 2
TP53 0 0 1 0 1 2
TPM1 0 0 2 0 0 2
AKT1 1 0 0 0 0 1
BBS10 0 1 0 0 0 1
CDC73 0 0 1 0 0 1
CEP85L, PLN 1 0 0 0 0 1
CNGB3 1 0 0 0 0 1
KCNE3, LIPT2 0 0 0 0 1 1
KCNK12, MSH2 0 0 0 0 1 1
LDLR 0 1 0 0 0 1
LOC114827850, MYL2 0 0 0 0 1 1
NF2 0 0 1 0 0 1
PTEN 0 0 1 0 0 1
SGCB 1 0 0 0 0 1
SMARCB1 0 0 1 0 0 1
TNNC1 0 0 1 0 0 1
TNNI3 0 0 1 0 0 1
VHL 0 0 1 0 0 1
WT1 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 55
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 0 1106 367 95 1568
not specified 0 0 0 1 398 399
Malignant hyperthermia, susceptibility to, 1 4 0 60 6 8 78
Long QT syndrome 0 0 10 10 4 24
Arrhythmogenic right ventricular cardiomyopathy 0 1 4 9 9 23
Hypertrophic cardiomyopathy 0 0 13 2 6 21
Primary dilated cardiomyopathy 1 0 3 6 5 15
Primary familial hypertrophic cardiomyopathy 1 1 3 4 4 13
Dilated cardiomyopathy 0 0 8 1 0 9
Brugada syndrome 0 0 3 4 1 8
Cardiac arrhythmia 0 0 1 4 3 8
Deafness, autosomal dominant 48 0 0 0 6 0 6
Alzheimer disease 0 0 2 1 2 5
Hereditary breast and ovarian cancer syndrome 5 0 0 0 0 5
Breast-ovarian cancer, familial 2 4 0 0 0 0 4
MYH-associated polyposis 2 2 0 0 0 4
Ventricular tachycardia, polymorphic 0 0 4 0 0 4
Microphthalmia syndromic 4 0 3 0 0 0 3
Atrial fibrillation 0 1 0 0 1 2
Cardiomyopathy, arrhythmogenic right ventricular dysplasia 0 0 1 0 1 2
Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 0 2 0 2
Joubert syndrome 0 2 0 0 0 2
Limb-girdle muscular dystrophy 0 0 0 1 1 2
Long QT syndrome 1 1 1 0 0 0 2
Long QT syndrome, drug-associated 0 0 0 1 1 2
SUDDEN INFANT DEATH SYNDROME 0 0 1 1 0 2
Sudden cardiac death 0 0 0 1 1 2
Achromatopsia 3 1 0 0 0 0 1
Atrial fibrillation; Brugada syndrome 0 0 0 1 0 1
Bardet-Biedl syndrome 10 0 1 0 0 0 1
Cardiomyopathy, left ventricular noncompaction 1 0 0 0 0 1
Colorectal cancer 0 0 0 0 1 1
Dilated cardiomyopathy 1E 0 1 0 0 0 1
Emery-Dreifuss muscular dystrophy 0 0 1 0 0 1
Familial hypercholesterolemia 1 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 4 1 0 0 0 0 1
Familial medullary thyroid carcinoma 1 0 0 0 0 1
Hearing loss, noise-induced, susceptibility to 0 0 0 0 1 1
Heart failure; Dilated cardiomyopathy 0 0 1 0 0 1
Hereditary nonpolyposis colorectal cancer type 4 0 1 0 0 0 1
Hereditary nonpolyposis colorectal cancer type 5 1 0 0 0 0 1
Increased left ventricular wall thickness 0 0 0 1 0 1
Limb-girdle muscular dystrophy, type 2E 1 0 0 0 0 1
Long QT syndrome; Brugada syndrome 0 0 0 0 1 1
Myocardial infarction 0 0 0 0 1 1
Paragangliomas 3 1 0 0 0 0 1
Paragangliomas 4 0 1 0 0 0 1
Periodic paralysis 0 0 0 0 1 1
Primary pulmonary hypertension 0 0 1 0 0 1
Proteus syndrome 1 0 0 0 0 1
SUDDEN INFANT DEATH SYNDROME; Brugada syndrome 0 0 1 0 0 1
Sinus node disease 0 0 1 0 0 1
Torsades de pointes 0 0 0 0 1 1
Ventricular tachycardia 0 0 1 0 0 1
altered potassium channel function 0 0 1 0 0 1

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