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
Deletion	NM_004168.4(SDHA):c.995_996del (p.Pro332fs)	SDHA	Pathogenic	5	233691	233692	CCT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg)	SDHA	Likely pathogenic	5	251530	251530	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000335.5(SCN5A):c.4910G>C (p.Arg1637Pro)	SCN5A	Likely pathogenic	3	38592950	38592950	C	G	criteria provided, single submitter	ClinGen:CA16604565
single nucleotide variant	NM_000335.5(SCN5A):c.273+1G>A	SCN5A	Likely pathogenic	3	38674525	38674525	C	T	criteria provided, single submitter	ClinGen:CA16604928
single nucleotide variant	NM_000335.5(SCN5A):c.6045G>A (p.Val2015=)	SCN5A	Pathogenic	3	38591815	38591815	C	T	criteria provided, single submitter	ClinGen:CA16609848
Deletion	NM_000335.5(SCN5A):c.2184_2186del (p.Leu729del)	SCN5A	Pathogenic	3	38639296	38639298	GAGT	G	criteria provided, single submitter	ClinGen:CA16609849
Deletion	NC_000003.12:g.(?_38633035)_(38633359_?)del	SCN5A	Pathogenic	3	38674526	38674850	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_38548062)_(38551558_?)del	SCN5A	Likely pathogenic	3	38589553	38593049	na	na	criteria provided, single submitter	-
Duplication	NM_004168.4(SDHA):c.253_256dup (p.Asn86delinsIleTer)	SDHA	Pathogenic	5	224576	224577	G	GTTTA	criteria provided, single submitter	-
single nucleotide variant	NM_004168.4(SDHA):c.880C>T (p.Gln294Ter)	SDHA	Pathogenic	5	231100	231100	C	T	criteria provided, multiple submitters, no conflicts	-