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.1968+5G>A	LMNA	Pathogenic	1	156108553	156108553	G	A	criteria provided, single submitter	ClinGen:CA347068,OMIM:150330.0056
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.1824C>T (p.Gly608=)	LMNA	Pathogenic	1	156108404	156108404	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015291,OMIM:150330.0022
Duplication	NM_170707.4(LMNA):c.1657dup (p.Asp553fs)	LMNA	Pathogenic	1	156107492	156107493	C	CG	criteria provided, single submitter	-
Deletion	NM_170707.4(LMNA):c.1629_1636del (p.Val544fs)	LMNA	Pathogenic	1	156107462	156107469	AGCTGGTGC	A	criteria provided, single submitter	ClinGen:CA16617002
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.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.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.1621C>T (p.Arg541Cys)	LMNA	Pathogenic/Likely pathogenic	1	156107457	156107457	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017615,UniProtKB:P02545#VAR_039786
single nucleotide variant	NM_170707.4(LMNA):c.1620G>A (p.Met540Ile)	LMNA	Pathogenic	1	156107456	156107456	G	A	criteria provided, single submitter	ClinGen:CA017595