ClinVar Miner

Variants from Biesecker Lab/Human Development Section,National Institutes of Health

Location: United States — Primary collection method: research
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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
15 7 1227 429 545 2223

Gene and significance breakdown #

Total genes and gene combinations: 109
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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
ANK2 0 0 21 17 13 51
BRCA2 3 0 28 9 11 51
DSP 0 0 20 17 12 49
APC 0 0 38 0 6 44
BRCA1 2 0 20 3 13 38
RYR2 0 0 22 9 7 38
LAMA4 0 0 21 6 10 37
MYBPC3 1 0 19 7 10 37
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 1 16 8 6 31
TMPO 0 0 13 5 9 27
TSC2 0 0 12 11 4 27
PMS2 0 0 13 0 12 25
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
TSC1 0 0 10 4 2 16
HCN4 0 0 11 2 2 15
MSH2 0 0 12 0 3 15
PTCH1 0 0 11 0 4 15
RET 0 0 10 1 4 15
KCNA5 0 0 10 0 4 14
LOC101927055, TTN 0 0 5 1 8 14
MLH1 0 0 8 0 6 14
MSH6 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
KIT 0 0 9 0 1 10
ANKRD1 0 0 5 2 2 9
CDKN2A 0 0 7 0 2 9
KCNQ1 0 0 2 5 1 8
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 3 0 3 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
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
SDHB 0 0 3 0 1 4
KCNE3 0 0 1 1 1 3
LDB3, LOC110121486 0 0 2 0 1 3
LOC110121269, SCN5A 0 0 1 0 2 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
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
CDC73 0 0 1 0 0 1
CEP85L, PLN 1 0 0 0 0 1
LAMA4, LOC101927640 0 0 1 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
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: 41
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 0 1107 367 94 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's disease 0 0 2 1 2 5
Hereditary breast and ovarian cancer syndrome 5 0 0 0 0 5
MYH-associated polyposis 2 2 0 0 0 4
Ventricular tachycardia, polymorphic 0 0 4 0 0 4
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, 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
Atrial fibrillation; Brugada syndrome 0 0 0 1 0 1
Cardiomyopathy, left ventricular noncompaction 1 0 0 0 0 1
Colorectal cancer 0 0 0 0 1 1
Emery-Dreifuss muscular dystrophy 0 0 1 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
Increased left ventricular wall thickness 0 0 0 1 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
Periodic paralysis 0 0 0 0 1 1
Primary pulmonary hypertension 0 0 1 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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