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.438G>T (p.Met146Ile)	PSEN1	Pathogenic	14	73640373	73640373	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA225023,UniProtKB:P49768#VAR_006425
single nucleotide variant	NM_000021.4(PSEN1):c.505T>C (p.Ser169Pro)	PSEN1	Likely pathogenic	14	73653585	73653585	T	C	criteria provided, single submitter	UniProtKB:P49768#VAR_006431,ClinGen:CA225044
single nucleotide variant	NM_000021.4(PSEN1):c.506C>T (p.Ser169Leu)	PSEN1	Pathogenic	14	73653586	73653586	C	T	criteria provided, single submitter	ClinGen:CA225045,UniProtKB:P49768#VAR_006430
single nucleotide variant	NM_000021.4(PSEN1):c.512T>C (p.Leu171Pro)	PSEN1	Pathogenic	14	73653592	73653592	T	C	criteria provided, single submitter	ClinGen:CA225048,UniProtKB:P49768#VAR_006432
single nucleotide variant	NM_000021.4(PSEN1):c.530T>C (p.Phe177Ser)	PSEN1	Pathogenic	14	73653610	73653610	T	C	criteria provided, single submitter	ClinGen:CA225057,UniProtKB:P49768#VAR_075264
single nucleotide variant	NM_000021.4(PSEN1):c.552A>C (p.Glu184Asp)	PSEN1	Pathogenic	14	73659355	73659355	A	C	criteria provided, single submitter	ClinGen:CA225063
single nucleotide variant	NM_000021.4(PSEN1):c.617G>T (p.Gly206Val)	PSEN1	Pathogenic	14	73659420	73659420	G	T	criteria provided, single submitter	ClinGen:CA225067
single nucleotide variant	NM_000021.4(PSEN1):c.626G>T (p.Gly209Val)	PSEN1	Pathogenic	14	73659429	73659429	G	T	criteria provided, single submitter	ClinGen:CA225070,UniProtKB:P49768#VAR_006433
single nucleotide variant	NM_000021.4(PSEN1):c.656T>C (p.Leu219Pro)	PSEN1	Pathogenic	14	73659459	73659459	T	C	criteria provided, single submitter	ClinGen:CA225079,UniProtKB:P49768#VAR_010126
single nucleotide variant	NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr)	PSEN1	Likely pathogenic	14	73659494	73659494	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA225090,UniProtKB:P49768#VAR_006435