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_000256.3(MYBPC3):c.2526C>A (p.Tyr842Ter)	MYBPC3	Pathogenic	11	47359018	47359018	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA380318189
single nucleotide variant	NM_000256.3(MYBPC3):c.2067+1G>A	MYBPC3	Pathogenic	11	47361201	47361201	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA380321286
single nucleotide variant	NM_000335.5(SCN5A):c.2527A>G (p.Thr843Ala)	SCN5A	Pathogenic	3	38627442	38627442	T	C	criteria provided, single submitter	ClinGen:CA016243
single nucleotide variant	NM_000335.5(SCN5A):c.2632C>T (p.Arg878Cys)	SCN5A	Pathogenic/Likely pathogenic	3	38627337	38627337	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016333,UniProtKB:Q14524#VAR_055183
single nucleotide variant	NM_000257.4(MYH7):c.1052A>C (p.Lys351Thr)	MYH7	Likely pathogenic	14	23899070	23899070	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA389051463
Deletion	NM_001943.5(DSG2):c.307_308del (p.Val103fs)	DSG2	Likely pathogenic	18	29100855	29100856	TTG	T	criteria provided, single submitter	ClinGen:CA658658730
single nucleotide variant	NM_001943.5(DSG2):c.1027G>T (p.Glu343Ter)	DSG2	Pathogenic/Likely pathogenic	18	29110962	29110962	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA402137937
single nucleotide variant	NM_004006.3(DMD):c.8575G>T (p.Glu2859Ter)	DMD	Pathogenic	X	31497193	31497193	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412654627
single nucleotide variant	NM_004006.3(DMD):c.6317G>A (p.Trp2106Ter)	DMD	Pathogenic	X	32235154	32235154	C	T	criteria provided, single submitter	ClinGen:CA412660744
single nucleotide variant	NM_004006.3(DMD):c.4675-11A>G	DMD	Pathogenic/Likely pathogenic	X	32398808	32398808	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658965