特発性拡張型心筋症

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_004168.4(SDHA):c.1261-2A>G	SDHA	Likely pathogenic	5	236541	236541	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000006.12:g.(?_118548061)_(118559090_?)del	PLN	Pathogenic	6	118869224	118880253	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys)	SCN5A	Likely pathogenic	3	38597226	38597226	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001079802.2(FKTN):c.780+2T>C	FKTN	Likely pathogenic	9	108370234	108370234	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.1066G>T (p.Asp356Tyr)	SCN5A	Likely pathogenic	3	38648234	38648234	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.3570G>A (p.Trp1190Ter)	SCN5A	Pathogenic/Likely pathogenic	3	38616881	38616881	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000256.3(MYBPC3):c.3627+2T>G	MYBPC3	Pathogenic	11	47354115	47354115	A	C	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_47348566)_(47351515_?)del	MYBPC3	Pathogenic	11	47370117	47373066	na	na	criteria provided, single submitter	-
Deletion	NC_000010.11:g.(?_119676454)_(119677500_?)del	BAG3	Pathogenic	10	121435966	121437012	na	na	criteria provided, single submitter	-
Duplication	NM_000335.5(SCN5A):c.2298dup (p.Lys767fs)	SCN5A	Pathogenic	3	38629028	38629029	T	TG	criteria provided, single submitter	-