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.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.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.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.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.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_170707.4(LMNA):c.777T>A (p.Tyr259Ter)	LMNA	Likely pathogenic	1	156104733	156104733	T	A	criteria provided, single submitter	ClinGen:CA018615,OMIM:150330.0035
single nucleotide variant	NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)	LMNA	Likely pathogenic	1	156100449	156100449	G	C	criteria provided, single submitter	ClinGen:CA018038,UniProtKB:P02545#VAR_017657,OMIM:150330.0032
single nucleotide variant	NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp)	MYH7	Likely pathogenic	14	23884861	23884861	G	A	reviewed by expert panel	UniProtKB:P12883#VAR_042834,OMIM:160760.0032,ClinGen:CA015719
single nucleotide variant	NM_000257.4(MYH7):c.2803G>A (p.Glu935Lys)	MYH7	Likely pathogenic	14	23893235	23893235	C	T	criteria provided, single submitter	UniProtKB:P12883#VAR_004597,OMIM:160760.0019,ClinGen:CA013118
single nucleotide variant	NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)	MYH7	Likely pathogenic	14	23893193	23893193	C	T	reviewed by expert panel	ClinGen:CA013144,UniProtKB:P12883#VAR_004598,OMIM:160760.0007