エメリー・ドレイフス型筋ジストロフィー

小児・神経疾患

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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.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
single nucleotide variant	NM_170707.4(LMNA):c.244G>A (p.Glu82Lys)	LMNA	Pathogenic	1	156084953	156084953	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017794
single nucleotide variant	NM_170707.4(LMNA):c.266G>T (p.Arg89Leu)	LMNA	Pathogenic	1	156084975	156084975	G	T	criteria provided, single submitter	ClinGen:CA017839,UniProtKB:P02545#VAR_039758
single nucleotide variant	NM_170707.4(LMNA):c.274C>T (p.Leu92Phe)	LMNA	Likely pathogenic	1	156084983	156084983	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017846,UniProtKB:P02545#VAR_067257