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
Indel	NM_000335.5(SCN5A):c.2821_2822delinsAA (p.Ser941Asn)	SCN5A	Likely pathogenic	3	38622828	38622829	GA	TT	criteria provided, single submitter	ClinGen:CA016545,OMIM:600163.0015
single nucleotide variant	NM_000335.5(SCN5A):c.4780G>A (p.Asp1594Asn)	SCN5A	Pathogenic/Likely pathogenic	3	38595800	38595800	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018551,UniProtKB:Q14524#VAR_017683,OMIM:600163.0017
single nucleotide variant	NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser)	SCN5A	Pathogenic/Likely pathogenic	3	38622661	38622661	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016718,UniProtKB:Q14524#VAR_017676,OMIM:600163.0019
single nucleotide variant	NM_000335.5(SCN5A):c.1100G>A (p.Arg367His)	SCN5A	Pathogenic	3	38648200	38648200	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014314,UniProtKB:Q14524#VAR_017672,OMIM:600163.0021
single nucleotide variant	NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val)	SCN5A	Likely pathogenic	3	38639278	38639278	G	A	criteria provided, single submitter	ClinGen:CA015951,UniProtKB:Q14524#VAR_017674,OMIM:600163.0022
single nucleotide variant	NM_001276345.2(TNNT2):c.847A>G (p.Lys283Glu)	TNNT2	Pathogenic	1	201328755	201328755	T	C	criteria provided, single submitter	ClinGen:CA344202333
single nucleotide variant	NM_001267550.2(TTN):c.100927C>T (p.Gln33643Ter)	TTN	Likely pathogenic	2	179400415	179400415	G	A	criteria provided, single submitter	ClinGen:CA349422395
single nucleotide variant	NM_001267550.2(TTN):c.93781C>T (p.Arg31261Ter)	TTN	Likely pathogenic	2	179412572	179412572	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349480887
Deletion	NM_001267550.2(TTN):c.77933_77951del (p.Glu25978fs)	TTN	Likely pathogenic	2	179432908	179432926	AGCTACAATTGGATCAGACT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372700
single nucleotide variant	NM_001267550.2(TTN):c.75469C>T (p.Arg25157Ter)	TTN	Pathogenic/Likely pathogenic	2	179435390	179435390	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349625004