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.73C>G (p.Arg25Gly)	LMNA	Pathogenic/Likely pathogenic	1	156084782	156084782	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018531,UniProtKB:P02545#VAR_039746
single nucleotide variant	NM_170707.4(LMNA):c.73C>T (p.Arg25Cys)	LMNA	Likely pathogenic	1	156084782	156084782	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018538
single nucleotide variant	NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)	LMNA	Pathogenic/Likely pathogenic	1	156104702	156104702	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018567,UniProtKB:P02545#VAR_009980
single nucleotide variant	NM_170707.4(LMNA):c.74G>C (p.Arg25Pro)	LMNA	Likely pathogenic	1	156084783	156084783	G	C	criteria provided, single submitter	ClinGen:CA018579,UniProtKB:P02545#VAR_039747
single nucleotide variant	NM_170707.4(LMNA):c.810+1G>A	LMNA	Pathogenic	1	156104767	156104767	G	A	criteria provided, single submitter	ClinGen:CA018696
single nucleotide variant	NM_170707.4(LMNA):c.82C>T (p.Arg28Trp)	LMNA	Pathogenic	1	156084791	156084791	C	T	criteria provided, single submitter	ClinGen:CA018743,UniProtKB:P02545#VAR_039748
single nucleotide variant	NM_170707.4(LMNA):c.898G>A (p.Asp300Asn)	LMNA	Pathogenic/Likely pathogenic	1	156105065	156105065	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018826
single nucleotide variant	NM_170707.4(LMNA):c.937-11C>G	LMNA	Pathogenic	1	156105681	156105681	C	G	criteria provided, single submitter	ClinGen:CA018858
Deletion	NM_170707.4(LMNA):c.94_96del (p.Lys32del)	LMNA	Pathogenic	1	156084801	156084803	GAGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018871,OMIM:150330.0050
single nucleotide variant	NM_170707.4(LMNA):c.98A>G (p.Glu33Gly)	LMNA	Pathogenic	1	156084807	156084807	A	G	criteria provided, single submitter	ClinGen:CA018931,UniProtKB:P02545#VAR_039751