Variants from Laboratory of Genetics and Molecular Cardiology, University of São Paulo

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
87	122	137	7	22	375

Gene and significance breakdown #

Total genes and gene combinations: 27

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
LDLR	79	41	72	3	6	201
APOB	5	3	40	3	8	59
MYBPC3	0	29	1	1	0	31
MYH7	0	26	0	0	0	26
PCSK9	1	0	11	0	5	17
LOC126861898, MYH7	0	8	0	0	0	8
APOB, LOC106560211	2	0	1	0	1	4
LDLR, MIR6886	0	0	1	0	2	3
TNNT2	0	3	0	0	0	3
ACTC1, GJD2-DT	0	2	0	0	0	2
CSRP3	0	1	1	0	0	2
LOC126861897, MHRT, MYH7	0	2	0	0	0	2
MHRT, MYH7	0	2	0	0	0	2
SCN5A	0	0	2	0	0	2
ACTN2	0	0	1	0	0	1
FLNC	0	0	1	0	0	1
MYH6	0	0	1	0	0	1
MYL2	0	1	0	0	0	1
MYL3	0	0	1	0	0	1
MYLK2	0	0	1	0	0	1
RBM20	0	0	1	0	0	1
SYNE1	0	0	1	0	0	1
TCAP	0	1	0	0	0	1
TMEM43	0	1	0	0	0	1
TNNI3	0	0	1	0	0	1
TPM1	0	1	0	0	0	1
VCL	0	1	0	0	0	1

Condition and significance breakdown #

Total conditions: 16

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Hypercholesterolemia, familial, 1	87	44	125	6	22	284
Hypertrophic cardiomyopathy 1	0	38	1	0	0	39
Hypertrophic cardiomyopathy 4	0	29	1	0	0	30
Cardiomyopathy	0	1	5	0	0	6
Hypertrophic cardiomyopathy 2	0	3	0	0	0	3
Hypertrophic cardiomyopathy 11	0	2	0	0	0	2
Hypertrophic cardiomyopathy 12	0	1	1	0	0	2
Dilated cardiomyopathy 1AA	0	0	1	0	0	1
Hypertrophic cardiomyopathy 10	0	1	0	0	0	1
Hypertrophic cardiomyopathy 14	0	0	1	0	0	1
Hypertrophic cardiomyopathy 15	0	1	0	0	0	1
Hypertrophic cardiomyopathy 25	0	1	0	0	0	1
Hypertrophic cardiomyopathy 3	0	1	0	0	0	1
Hypertrophic cardiomyopathy 7	0	0	1	0	0	1
Hypertrophic cardiomyopathy 8	0	0	1	0	0	1
not specified	0	0	0	1	0	1

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