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
Duplication	NM_004168.4(SDHA):c.210dup (p.Gly71fs)	SDHA	Likely pathogenic	5	224533	224534	G	GA	criteria provided, single submitter	-
single nucleotide variant	NM_000337.6(SGCD):c.192+1G>A	SGCD	Likely pathogenic	5	155771688	155771688	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000337.6(SGCD):c.69C>A (p.Tyr23Ter)	SGCD	Likely pathogenic	5	155771564	155771564	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000337.6(SGCD):c.699+1G>T	SGCD	Likely pathogenic	5	156184716	156184716	G	T	criteria provided, single submitter	-
Deletion	NM_000337.6(SGCD):c.618del (p.Gly207fs)	SGCD	Likely pathogenic	5	156184631	156184631	CA	C	criteria provided, single submitter	-
Deletion	NM_001079802.2(FKTN):c.1099del (p.Val367fs)	FKTN	Pathogenic/Likely pathogenic	9	108382269	108382269	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001079802.2(FKTN):c.1173-2A>G	FKTN	Likely pathogenic	9	108397330	108397330	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001079802.2(FKTN):c.106-2A>G	FKTN	Likely pathogenic	9	108358877	108358877	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001079802.2(FKTN):c.370-2A>G	FKTN	Likely pathogenic	9	108366494	108366494	A	G	criteria provided, single submitter	-
Deletion	NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs)	FKTN	Likely pathogenic	9	108382299	108382300	CAT	C	criteria provided, multiple submitters, no conflicts	-