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.698T>C (p.Met233Thr)	PSEN1	Pathogenic/Likely pathogenic	14	73659501	73659501	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA225093,UniProtKB:P49768#VAR_006437
single nucleotide variant	NM_000021.4(PSEN1):c.709T>C (p.Phe237Leu)	PSEN1	Likely pathogenic	14	73659512	73659512	T	C	criteria provided, single submitter	ClinGen:CA225100
single nucleotide variant	NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe)	PSEN1	Likely pathogenic	14	73664755	73664755	G	C	criteria provided, single submitter	ClinGen:CA225113,UniProtKB:P49768#VAR_006442
single nucleotide variant	NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu)	PSEN1	Pathogenic/Likely pathogenic	14	73664760	73664760	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA225117,UniProtKB:P49768#VAR_006444
single nucleotide variant	NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu)	PSEN1	Likely pathogenic	14	73664769	73664769	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA225119
single nucleotide variant	NM_000021.4(PSEN1):c.854C>T (p.Ala285Val)	PSEN1	Pathogenic	14	73664823	73664823	C	T	criteria provided, single submitter	ClinGen:CA225140,UniProtKB:P49768#VAR_006452
single nucleotide variant	NM_000021.4(PSEN1):c.1141C>G (p.Leu381Val)	PSEN1	Pathogenic	14	73683845	73683845	C	G	criteria provided, single submitter	ClinGen:CA225159
single nucleotide variant	NM_000021.4(PSEN1):c.1174C>G (p.Leu392Val)	PSEN1	Pathogenic	14	73683878	73683878	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA225167,UniProtKB:P49768#VAR_006457
single nucleotide variant	NM_000021.4(PSEN1):c.1181G>T (p.Gly394Val)	PSEN1	Pathogenic	14	73683885	73683885	G	T	criteria provided, single submitter	ClinGen:CA225170,UniProtKB:P49768#VAR_075276
single nucleotide variant	NM_000021.4(PSEN1):c.1306C>T (p.Pro436Ser)	PSEN1	Likely pathogenic	14	73685899	73685899	C	T	criteria provided, single submitter	UniProtKB:P49768#VAR_008141,ClinGen:CA225186