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_000021.4(PSEN1):c.811C>G (p.Leu271Val)	PSEN1	Pathogenic	14	73664780	73664780	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA127840,UniProtKB:P49768#VAR_016220,OMIM:104311.0026
single nucleotide variant	NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile)	PSEN1	Pathogenic	14	73664802	73664802	G	T	criteria provided, single submitter	ClinGen:CA225129,OMIM:104311.0030
single nucleotide variant	NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro)	PSEN1	Likely pathogenic	14	73637671	73637671	T	C	criteria provided, single submitter	ClinGen:CA127841,OMIM:104311.0031
single nucleotide variant	NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)	PSEN1	Pathogenic/Likely pathogenic	14	73685885	73685885	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341492,UniProtKB:P49768#VAR_025605,OMIM:104311.0033
single nucleotide variant	NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)	PSEN1	Pathogenic	14	73637653	73637653	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:P49768#VAR_006413,OMIM:104311.0035,ClinGen:CA224983
single nucleotide variant	NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg)	PSEN1	Likely pathogenic	14	73659452	73659452	G	C	criteria provided, single submitter	ClinGen:CA127843,OMIM:104311.0037
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_000021.4(PSEN1):c.1175T>C (p.Leu392Pro)	PSEN1	Pathogenic	14	73683879	73683879	T	C	criteria provided, single submitter	ClinGen:CA225168