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_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_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.1477C>T (p.Gln493Ter)	LMNA	Pathogenic	1	156106808	156106808	C	T	criteria provided, single submitter	ClinGen:CA017298,OMIM:150330.0038
single nucleotide variant	NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)	LMNA	Pathogenic/Likely pathogenic	1	156104701	156104701	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018559,UniProtKB:P02545#VAR_063589,OMIM:150330.0048
single nucleotide variant	NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)	LMNA	Pathogenic	1	156105827	156105827	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016555,UniProtKB:P02545#VAR_009985,OMIM:150330.0049
single nucleotide variant	NM_001943.5(DSG2):c.146G>A (p.Arg49His)	DSG2	Pathogenic/Likely pathogenic	18	29099830	29099830	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021393,UniProtKB:Q14126#VAR_029366,OMIM:125671.0001
single nucleotide variant	NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)	DSG2	Pathogenic/Likely pathogenic	18	29104755	29104755	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA022354,OMIM:125671.0002
single nucleotide variant	NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)	DSG2	Pathogenic/Likely pathogenic	18	29099821	29099821	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA021364,UniProtKB:Q14126#VAR_029365,OMIM:125671.0003
single nucleotide variant	NM_001943.5(DSG2):c.1880-2A>G	DSG2	Pathogenic/Likely pathogenic	18	29121154	29121154	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA021604,OMIM:125671.0008
single nucleotide variant	NM_001927.4(DES):c.1009G>C (p.Ala337Pro)	DES	Pathogenic	2	220285661	220285661	G	C	criteria provided, single submitter	ClinGen:CA216997,UniProtKB:P17661#VAR_007900,OMIM:125660.0001