Variants from Klaassen Lab, Charite University Medicine Berlin

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
15	34	56	0	0	104

Gene and significance breakdown #

Total genes and gene combinations: 41

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
MYH7	3	4	2	9
TTN	0	6	2	8
PRDM16	3	0	4	7
PKP2	0	3	3	6
BAG3	1	1	3	5
DSP	0	2	3	5
TNNI3	2	2	1	5
LDB3	0	0	4	4
MYBPC3	2	2	0	4
DMD	0	0	3	3
LAMA4	0	0	3	3
MYPN	0	0	3	3
NEXN	0	1	2	3
TNNT2	1	2	1	3
ACTN2	1	0	1	2
DSG2	0	1	1	2
HCN4	0	2	0	2
LMNA	0	1	1	2
LOC101927055, TTN	0	2	0	2
RBM20	1	0	1	2
SCN5A	0	0	2	2
TBX20	0	0	2	2
TPM1	0	1	1	2
C2orf49, FHL2	0	0	1	1
CBL	0	0	1	1
DNASE1L1, LOC130068869, TAFAZZIN	0	0	1	1
DSC2	0	1	0	1
EYA4	0	0	1	1
FHL2	0	0	1	1
LDB3, LOC110121486	0	0	1	1
LOC126806423, TTN	0	1	0	1
MADD, MYBPC3	1	0	0	1
MHRT, MYH7	0	0	1	1
MYLK2	0	0	1	1
MYOZ2	0	0	1	1
RAF1	0	1	0	1
RYR2	0	0	1	1
SOS1	0	0	1	1
TAFAZZIN	0	1	0	1
TMEM43	0	0	1	1
TNNC1	0	0	1	1

Condition and significance breakdown #

Total conditions: 8

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Condition	pathogenic	likely pathogenic	uncertain significance	total
Left ventricular noncompaction cardiomyopathy	8	20	11	39
Primary dilated cardiomyopathy	1	2	26	29
Primary familial hypertrophic cardiomyopathy	3	0	11	14
Familial restrictive cardiomyopathy	0	2	7	9
Primary dilated cardiomyopathy; Myocarditis	2	5	0	7
Arrhythmogenic right ventricular cardiomyopathy	0	3	1	4
Left ventricular noncompaction 10	1	1	0	2
Myocarditis	0	2	0	2

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