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.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
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.1609-1G>A	LMNA	Pathogenic/Likely pathogenic	1	156107444	156107444	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017570
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.1608+5G>A	LMNA	Likely pathogenic	1	156107028	156107028	G	A	criteria provided, single submitter	ClinGen:CA658795540
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.1608+1G>A	LMNA	Pathogenic	1	156107024	156107024	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017556