Variants from Stanford Center for Inherited Cardiovascular Disease, Stanford University

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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: 163

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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	45	2	0	85
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	17	8	1	0	0	26
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
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
ABCC9	0	0	4	0	0	4
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
ABCC9, KCNJ8	0	0	2	0	0	2
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
LDLR, MIR6886	1	0	0	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
MIR208B, MYH7	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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