ClinVar Miner

Variants from Stanford Center for Inherited Cardiovascular Disease, Stanford University

Location: United States  Primary collection method: provider interpretation
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
120 190 707 21 15 1053

Gene and significance breakdown #

Total genes and gene combinations: 160
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MYBPC3 13 37 58 7 1 116
MYH7 14 24 46 2 0 86
KCNQ1 19 18 10 0 0 47
DSP 1 5 30 1 1 38
RYR2 0 5 31 1 1 38
SCN5A 2 4 27 1 2 36
TTN 0 14 22 0 0 36
KCNH2 6 6 14 1 2 29
TNNT2 7 10 11 0 0 28
LDLR 18 8 1 0 0 27
PKP2 6 3 8 0 1 18
RBM20 1 1 16 0 0 18
ACTN2 0 0 17 0 0 17
ANK2 0 0 16 1 0 17
LMNA 5 6 6 0 0 17
TPM1 1 3 12 0 0 16
PRKAG2 1 0 14 0 0 15
LOC126861898, MYH7 3 2 9 0 0 14
TNNI3 2 7 4 1 0 14
AKAP9 0 0 12 1 0 13
DMD 2 0 10 1 0 13
BAG3 0 3 8 0 0 11
DSC2 0 0 11 0 0 11
LAMA4 0 0 11 0 0 11
ALMS1 0 0 9 0 0 9
CACNA1C 1 1 7 0 0 9
LDB3 0 0 9 0 0 9
MYPN 0 0 8 0 1 9
DSG2 0 1 6 1 0 8
TTR 2 3 3 0 0 8
JPH2 0 0 7 0 0 7
MYH6 0 0 7 0 0 7
NKX2-5 1 2 4 0 0 7
VCL 0 0 7 0 0 7
ABCC9 0 0 6 0 0 6
ELAC2 0 0 6 0 0 6
FLNC 0 0 6 0 0 6
GAA 0 0 5 0 1 6
GLA, RPL36A-HNRNPH2 1 1 4 0 0 6
LAMP2 1 1 3 0 1 6
MHRT, MYH7 0 2 4 0 0 6
MYL3 0 1 5 0 0 6
NEBL 0 0 5 1 0 6
NEXN 0 0 6 0 0 6
ACTC1, GJD2-DT 0 1 4 0 0 5
HCN4 0 0 5 0 0 5
JUP 0 0 5 0 0 5
MT-TI 0 0 5 0 0 5
MYL2 0 2 3 0 0 5
MYOM1 0 0 5 0 0 5
SCN10A 0 0 4 1 0 5
TNNC1 0 0 5 0 0 5
ANKRD1 0 0 4 0 0 4
APOB 1 1 2 0 0 4
CSRP3 0 0 4 0 0 4
DES 0 0 4 0 0 4
FKRP 0 0 4 0 0 4
KCNE1 0 1 3 0 0 4
MT-ND1 0 0 4 0 0 4
PDLIM3 0 0 3 1 0 4
RAF1 0 0 4 0 0 4
TGFBR1 0 2 2 0 0 4
TMEM43 1 0 3 0 0 4
CASQ2 1 0 2 0 0 3
CAV3, OXTR 0 0 3 0 0 3
CEP85L, PLN 2 0 1 0 0 3
EMD 1 0 2 0 0 3
LOC110121269, SCN5A 0 1 2 0 0 3
LOC126806424, TTN 0 1 2 0 0 3
LOC126861897, MHRT, MYH7 0 1 2 0 0 3
MYLK2 0 0 3 0 0 3
PCSK9 0 0 2 0 1 3
TMPO 0 0 2 0 1 3
TRDN 0 1 2 0 0 3
TRPM4 0 0 3 0 0 3
ACTA2 1 1 0 0 0 2
AGL 1 0 1 0 0 2
ANK2, LOC126807137 0 0 2 0 0 2
CACNB2 0 0 2 0 0 2
CTNNA3 0 0 2 0 0 2
DTNA 0 0 2 0 0 2
FKTN 0 0 2 0 0 2
KCNA5 0 0 2 0 0 2
KCNE2, LOC105372791 0 0 2 0 0 2
KCNQ1, KCNQ1OT1 0 1 1 0 0 2
LMNA, LOC126805877 0 1 1 0 0 2
LOC110121288, SCN10A 0 0 2 0 0 2
LOC126806067, RYR2 0 0 2 0 0 2
LOC126861897, MYH7 0 1 1 0 0 2
MYH11, NDE1 0 0 2 0 0 2
MYOZ2 0 0 2 0 0 2
PRDM16 0 0 2 0 0 2
SCN1B 0 1 1 0 0 2
SGCD 0 0 2 0 0 2
SLC22A5 0 0 2 0 0 2
SMAD3 2 0 0 0 0 2
TCAP 0 0 2 0 0 2
A2ML1 0 0 1 0 0 1
ACADVL 0 0 1 0 0 1
ANK2, LOC126807136 0 0 1 0 0 1
CALM2 0 0 1 0 0 1
CALM3 0 1 0 0 0 1
CAV3 0 0 1 0 0 1
CBL 0 0 1 0 0 1
CBS 0 0 1 0 0 1
COL3A1 0 1 0 0 0 1
CRYAB 0 0 1 0 0 1
CSNK2B 0 1 0 0 0 1
DEPDC5 0 0 1 0 0 1
DNAAF3, TNNI3 0 0 0 0 1 1
DOLK 0 0 1 0 0 1
DSG2, LOC130062340 0 0 1 0 0 1
ENG 1 0 0 0 0 1
FLNA 0 0 1 0 0 1
GATA4 0 0 1 0 0 1
GPD1L 0 0 1 0 0 1
ILK, LOC130005201 0 0 1 0 0 1
ILK, TAF10 0 0 1 0 0 1
JAG1 0 0 1 0 0 1
KCND3 0 0 1 0 0 1
KCNE3 0 0 1 0 0 1
KCNE3, LIPT2 0 0 1 0 0 1
KCNJ2 0 0 1 0 0 1
KCNJ5 0 0 1 0 0 1
KCNJ8 0 0 1 0 0 1
KCNK3 0 0 1 0 0 1
KCNT1 0 0 1 0 0 1
LOC114827850, MYL2 0 0 1 0 0 1
LOC114827851, MYH6 0 0 1 0 0 1
LOC126806423, TTN 0 0 1 0 0 1
LOC126806425, TTN 0 1 0 0 0 1
LOC126806427, TTN 0 0 1 0 0 1
LOC126862902, RYR1 0 0 1 0 0 1
LOC129999660, PRKAG2 0 0 1 0 0 1
LOC130004109, VCL 0 0 1 0 0 1
LOC130065680, SNTA1 0 0 1 0 0 1
MT-ND5 0 0 1 0 0 1
MT-ND6 0 1 0 0 0 1
MT-TG 0 0 1 0 0 1
MT-TK 0 0 1 0 0 1
MT-TL1 0 0 1 0 0 1
MT-TQ 0 0 1 0 0 1
MT-TS1 0 0 1 0 0 1
MTO1 0 0 1 0 0 1
MYL4 0 0 1 0 0 1
NOTCH1 0 0 1 0 0 1
PCDH19 0 1 0 0 0 1
PLOD1 0 0 1 0 0 1
PTPN11 0 0 1 0 0 1
RYR1 1 0 0 0 0 1
SCN4B 0 0 0 0 1 1
SDHA 0 0 1 0 0 1
SERPINC1 0 0 1 0 0 1
SHOC2 0 0 1 0 0 1
SLC25A22 0 0 1 0 0 1
SNTA1 0 0 1 0 0 1
SYNE1 0 0 1 0 0 1
TAFAZZIN 1 0 0 0 0 1
TGFB2 0 0 1 0 0 1
TGFB3 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 120 186 393 21 4 724
not specified 0 0 318 0 11 329
Catecholaminergic polymorphic ventricular tachycardia 1 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 9 0 1 0 0 0 1
Dilated cardiomyopathy 1D 0 1 0 0 0 1
Hypertrophic cardiomyopathy 2 0 0 1 0 0 1
Long QT syndrome 1 0 0 0 0 1
PCDH19-related epilepsy 0 1 0 0 0 1
Poirier-Bienvenu neurodevelopmental syndrome 0 1 0 0 0 1

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