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.1583C>G (p.Thr528Arg)	LMNA	Pathogenic/Likely pathogenic	1	156106998	156106998	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA017510,UniProtKB:P02545#VAR_039785
single nucleotide variant	NM_170707.4(LMNA):c.1608+1G>A	LMNA	Pathogenic	1	156107024	156107024	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017556
single nucleotide variant	NM_170707.4(LMNA):c.1608+5G>C	LMNA	Pathogenic	1	156107028	156107028	G	C	criteria provided, single submitter	ClinGen:CA017561,OMIM:150330.0019
single nucleotide variant	NM_170707.4(LMNA):c.1609-3C>G	LMNA	Pathogenic/Likely pathogenic	1	156107442	156107442	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA017576
single nucleotide variant	NM_170707.4(LMNA):c.1619T>C (p.Met540Thr)	LMNA	Pathogenic	1	156107455	156107455	T	C	criteria provided, single submitter	ClinGen:CA017588
single nucleotide variant	NM_170707.4(LMNA):c.1621C>A (p.Arg541Ser)	LMNA	Pathogenic	1	156107457	156107457	C	A	criteria provided, single submitter	ClinGen:CA017601,UniProtKB:P02545#VAR_039788
single nucleotide variant	NM_170707.4(LMNA):c.1622G>A (p.Arg541His)	LMNA	Pathogenic/Likely pathogenic	1	156107458	156107458	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017621,UniProtKB:P02545#VAR_039787
single nucleotide variant	NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro)	LMNA	Pathogenic/Likely pathogenic	1	156107458	156107458	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017630,UniProtKB:P02545#VAR_064975
single nucleotide variant	NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)	LMNA	Pathogenic	1	156084893	156084893	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA017741,UniProtKB:P02545#VAR_039755
Duplication	NM_170707.4(LMNA):c.1961dup (p.Thr655fs)	LMNA	Pathogenic	1	156108541	156108541	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA020498