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.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_170707.4(LMNA):c.1003C>T (p.Arg335Trp)	LMNA	Pathogenic/Likely pathogenic	1	156105758	156105758	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016426,OMIM:150330.0058
single nucleotide variant	NM_170707.4(LMNA):c.1412G>A (p.Arg471His)	LMNA	Pathogenic/Likely pathogenic	1	156106743	156106743	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017220,UniProtKB:P02545#VAR_070182
single nucleotide variant	NM_001276345.2(TNNT2):c.294T>G (p.Asp98Glu)	TNNT2	Likely pathogenic	1	201334738	201334738	A	C	criteria provided, single submitter	ClinGen:CA004247
single nucleotide variant	NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala)	TNNT2	Pathogenic/Likely pathogenic	1	201334745	201334745	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA004228
single nucleotide variant	NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)	TNNT2	Pathogenic	1	201334426	201334426	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004266,UniProtKB:P45379#VAR_016196
single nucleotide variant	NM_001276345.2(TNNT2):c.311G>A (p.Arg104His)	TNNT2	Pathogenic	1	201334419	201334419	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004294