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_001927.4(DES):c.1034T>C (p.Leu345Pro)	DES	Pathogenic/Likely pathogenic	2	220286072	220286072	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA217003,UniProtKB:P17661#VAR_009189,OMIM:125660.0006
single nucleotide variant	NM_001927.4(DES):c.1216C>T (p.Arg406Trp)	DES	Pathogenic/Likely pathogenic	2	220286254	220286254	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA257646,UniProtKB:P17661#VAR_042458,OMIM:125660.0007
single nucleotide variant	NM_001927.4(DES):c.1325C>T (p.Thr442Ile)	DES	Pathogenic	2	220290421	220290421	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA217036,UniProtKB:P17661#VAR_042459,OMIM:125660.0015
single nucleotide variant	NM_001927.4(DES):c.1049G>C (p.Arg350Pro)	DES	Pathogenic	2	220286087	220286087	G	C	criteria provided, multiple submitters, no conflicts	OMIM:125660.0016,ClinGen:CA126906,UniProtKB:P17661#VAR_042454
single nucleotide variant	NM_000021.4(PSEN1):c.436A>C (p.Met146Leu)	PSEN1	Pathogenic	14	73640371	73640371	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA341490,UniProtKB:P49768#VAR_006426,OMIM:104311.0001
single nucleotide variant	NM_000021.4(PSEN1):c.488A>G (p.His163Arg)	PSEN1	Pathogenic	14	73653568	73653568	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA225034,UniProtKB:P49768#VAR_006428,OMIM:104311.0002
single nucleotide variant	NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)	PSEN1	Pathogenic	14	73659540	73659540	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA225104,UniProtKB:P49768#VAR_006439,OMIM:104311.0003
single nucleotide variant	NM_000021.4(PSEN1):c.856C>G (p.Leu286Val)	PSEN1	Pathogenic	14	73664825	73664825	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA225141,UniProtKB:P49768#VAR_006453,OMIM:104311.0004
single nucleotide variant	NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr)	PSEN1	Pathogenic	14	73683933	73683933	G	A	criteria provided, single submitter	ClinGen:CA225174,UniProtKB:P49768#VAR_006458,OMIM:104311.0005
single nucleotide variant	NM_000021.4(PSEN1):c.415A>G (p.Met139Val)	PSEN1	Pathogenic	14	73640350	73640350	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA225015,UniProtKB:P49768#VAR_006422,OMIM:104311.0006