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_000335.5(SCN5A):c.2633G>A (p.Arg878His)	SCN5A	Pathogenic/Likely pathogenic	3	38627336	38627336	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016340,UniProtKB:Q14524#VAR_074388
single nucleotide variant	NM_000335.5(SCN5A):c.2657A>C (p.His886Pro)	SCN5A	Likely pathogenic	3	38627312	38627312	T	G	criteria provided, single submitter	ClinGen:CA016358,UniProtKB:Q14524#VAR_074389
single nucleotide variant	NM_000335.5(SCN5A):c.2674T>A (p.Phe892Ile)	SCN5A	Likely pathogenic	3	38627295	38627295	A	T	criteria provided, single submitter	ClinGen:CA016384,UniProtKB:Q14524#VAR_026363
single nucleotide variant	NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu)	SCN5A	Pathogenic/Likely pathogenic	3	38627240	38627240	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016445,UniProtKB:Q14524#VAR_026365
single nucleotide variant	NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp)	SCN5A	Pathogenic/Likely pathogenic	3	38671884	38671884	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016827,UniProtKB:Q14524#VAR_074319
single nucleotide variant	NM_000335.5(SCN5A):c.311G>A (p.Arg104Gln)	SCN5A	Pathogenic/Likely pathogenic	3	38671883	38671883	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016849,UniProtKB:Q14524#VAR_074318
Deletion	NM_004168.4(SDHA):c.688del (p.Glu230fs)	SDHA	Pathogenic/Likely pathogenic	5	228363	228363	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657421
single nucleotide variant	NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter)	SDHA	Pathogenic/Likely pathogenic	5	240508	240508	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA359014231
single nucleotide variant	NM_004168.4(SDHA):c.562C>T (p.Arg188Trp)	SDHA	Likely pathogenic	5	226103	226103	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3172879
single nucleotide variant	NM_004168.4(SDHA):c.1064+2T>A	SDHA	Likely pathogenic	5	233762	233762	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA359013038