Variants from Genetics and Genomics Program, Sidra Medicine

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
6	17	171	76	0	269

Gene and significance breakdown #

Total genes and gene combinations: 86

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	total
TTN	1	4	62	42	108
MYBPC3	2	2	6	3	13
LAMA2	0	0	6	0	6
MYH7	0	1	5	0	6
DSP	0	0	2	3	5
MYH6	0	0	5	0	5
RBM20	0	0	4	1	5
SCN5A	0	1	4	0	5
VCL	0	0	4	1	5
DMD	0	0	0	4	4
JUP	0	0	3	1	4
LOC126861897, MHRT, MYH7	0	0	4	0	4
RYR2	0	0	4	0	4
LOC101927055, TTN	0	0	3	0	3
LOC126806424, TTN	0	0	0	3	3
MYPN	0	0	2	1	3
NEXN	0	0	2	1	3
SGCB	0	0	1	2	3
TNNT2	0	1	2	0	3
ABCC9	0	0	2	0	2
ANKRD1	0	0	2	0	2
LOC126806422, TTN	0	0	1	1	2
LOC126806433, TTN	0	0	1	1	2
MHRT, MYH7	0	0	1	1	2
PKP2	0	0	1	1	2
PRDM16	0	0	1	1	2
SGCD	0	0	1	1	2
TPM1	0	0	2	0	2
TRIM63	1	0	1	0	2
BCL9	0	0	1	0	1
BRAF	0	0	1	0	1
CACNA1D	0	0	1	0	1
CACNA1I	0	0	1	0	1
CAVIN4	0	0	1	0	1
CCND1	0	0	1	0	1
CELSR3	0	0	1	0	1
CEP85L, PLN	0	0	1	0	1
CSRP3	0	0	0	1	1
DES	0	0	1	0	1
DOLK	0	0	1	0	1
DSC2	0	0	1	0	1
DSG2	0	0	1	0	1
ETFDH	0	1	0	0	1
FKTN	0	0	1	0	1
GPR149	0	0	1	0	1
ITPR3	0	1	0	0	1
JPH2	0	0	1	0	1
KCNA10	0	0	1	0	1
KCNQ1	0	1	0	0	1
KLHL8	0	0	1	0	1
LAMA4	0	0	0	1	1
LAMP2	0	0	1	0	1
LOC126806067, RYR2	0	0	1	0	1
LOC126806421, TTN	0	0	1	0	1
LOC126806423, TTN	0	0	0	1	1
LOC126806425, TTN	0	0	0	1	1
LOC126806426, TTN	0	0	1	0	1
LOC126806428, TTN	0	0	1	0	1
LOC126806429, TTN	0	0	1	0	1
LOC126806430, TTN	0	0	1	0	1
LOC126806431, TTN	0	0	0	1	1
LOC126861897, MYH7	0	0	1	0	1
LOC126861898, MYH7	0	0	1	0	1
LOC129992585, SGCB	0	0	1	0	1
MASP1	0	0	1	0	1
MBLAC1	0	1	0	0	1
MIDN	0	0	1	0	1
MUC16	0	0	1	0	1
MYL2	0	0	1	0	1
MYL3	0	0	1	0	1
MYLK2	0	0	0	1	1
NKX2-5	0	0	1	0	1
PTPN11	0	1	0	0	1
PTPN13	0	0	1	0	1
RNF123	0	0	1	0	1
SCN10A	0	0	1	0	1
SLC2A2	1	0	0	0	1
TBX20	0	0	0	1	1
TBX5	0	0	0	1	1
TECRL	1	0	0	0	1
UFM1	0	1	0	0	1
UQCRC1	0	1	0	0	1
VEPH1	0	0	1	0	1
VPS13B	0	1	0	0	1
VSX1	0	0	1	0	1
ZBTB17	0	0	1	0	1

Condition and significance breakdown #

Total conditions: 5

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Primary dilated cardiomyopathy	0	4	94	47	145
Hypertrophic cardiomyopathy	4	6	60	31	101
Congenital long QT syndrome	1	7	15	0	23
Catecholaminergic polymorphic ventricular tachycardia	1	0	2	0	3
Brugada syndrome	0	0	1	0	1

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