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.839A>C (p.Glu280Ala)	PSEN1	Pathogenic	14	73664808	73664808	A	C	criteria provided, single submitter	ClinGen:CA341491,UniProtKB:P49768#VAR_006450,OMIM:104311.0009
single nucleotide variant	NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly)	PSEN1	Pathogenic	14	73664808	73664808	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA127837,UniProtKB:P49768#VAR_006451,OMIM:104311.0010
single nucleotide variant	NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser)	PSEN1	Likely pathogenic	14	73664768	73664768	C	T	criteria provided, single submitter	ClinGen:CA225118,UniProtKB:P49768#VAR_006445,OMIM:104311.0011
single nucleotide variant	NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro)	PSEN1	Likely pathogenic	14	73685869	73685869	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA225181,UniProtKB:P49768#VAR_006459,OMIM:104311.0014
single nucleotide variant	NM_000021.4(PSEN1):c.833G>C (p.Arg278Thr)	PSEN1	Pathogenic	14	73664802	73664802	G	C	criteria provided, single submitter	ClinGen:CA127838,UniProtKB:P49768#VAR_006449,OMIM:104311.0017
Indel	NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys)	PSEN1	Pathogenic	14	73685893	73685894	GC	TG	criteria provided, single submitter	ClinGen:CA225525,OMIM:104311.0019
single nucleotide variant	NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)	PSEN1	Pathogenic	14	73659420	73659420	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA258122,UniProtKB:P49768#VAR_016218,OMIM:104311.0021
single nucleotide variant	NM_000021.4(PSEN1):c.796G>A (p.Gly266Ser)	PSEN1	Likely pathogenic	14	73664765	73664765	G	A	criteria provided, single submitter	ClinGen:CA127839,UniProtKB:P49768#VAR_016219,OMIM:104311.0022
single nucleotide variant	NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)	PSEN1	Likely pathogenic	14	73637755	73637755	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224998,UniProtKB:P49768#VAR_016215,OMIM:104311.0023
single nucleotide variant	NM_000021.4(PSEN1):c.497T>C (p.Leu166Pro)	PSEN1	Pathogenic	14	73653577	73653577	T	C	criteria provided, single submitter	ClinGen:CA258123,UniProtKB:P49768#VAR_016216,OMIM:104311.0024