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_020297.4(ABCC9):c.3637T>G (p.Ser1213Ala)	ABCC9	Likely pathogenic	12	21981924	21981924	A	C	criteria provided, single submitter	ClinGen:CA16619502
single nucleotide variant	NM_020297.4(ABCC9):c.1385T>C (p.Val462Ala)	ABCC9	Likely pathogenic	12	22061081	22061081	A	G	criteria provided, single submitter	ClinGen:CA16619503
single nucleotide variant	NM_020297.4(ABCC9):c.3796G>A (p.Val1266Met)	ABCC9	Pathogenic/Likely pathogenic	12	21970217	21970217	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384136638
single nucleotide variant	NM_020297.4(ABCC9):c.3650G>A (p.Arg1217Lys)	ABCC9	Likely pathogenic	12	21981911	21981911	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_020297.4(ABCC9):c.1703C>T (p.Pro568Leu)	ABCC9	Likely pathogenic	12	22047065	22047065	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_005159.5(ACTC1):c.889G>T (p.Ala297Ser)	ACTC1	Pathogenic	15	35083416	35083416	C	A	criteria provided, single submitter	ClinGen:CA019982,UniProtKB:P68032#VAR_012859,OMIM:102540.0003
single nucleotide variant	NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro)	ACTC1	Pathogenic	15	35082750	35082750	C	G	criteria provided, single submitter	ClinGen:CA020027,UniProtKB:P68032#VAR_012861,OMIM:102540.0007
single nucleotide variant	NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)	ACTC1	Pathogenic/Likely pathogenic	15	35085599	35085599	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA019743,UniProtKB:P68032#VAR_012857,OMIM:102540.0009
single nucleotide variant	NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp)	ACTC1	Likely pathogenic	15	35084672	35084672	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA019824
single nucleotide variant	NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr)	ACTC1	Likely pathogenic	15	35083439	35083439	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA019967