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.608A>T (p.Glu203Val)	LMNA	Likely pathogenic	1	156104288	156104288	A	T	criteria provided, single submitter	ClinGen:CA018303
Deletion	NM_170707.4(LMNA):c.626del (p.Asn209fs)	LMNA	Likely pathogenic	1	156104305	156104305	GA	G	criteria provided, single submitter	ClinGen:CA018329
single nucleotide variant	NM_170707.4(LMNA):c.640-10A>G	LMNA	Pathogenic/Likely pathogenic	1	156104586	156104586	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018347
single nucleotide variant	NM_170707.4(LMNA):c.656A>C (p.Lys219Thr)	LMNA	Likely pathogenic	1	156104612	156104612	A	C	criteria provided, single submitter	ClinGen:CA018400
single nucleotide variant	NM_170707.4(LMNA):c.694G>C (p.Gly232Arg)	LMNA	Likely pathogenic	1	156104650	156104650	G	C	criteria provided, single submitter	ClinGen:CA018465
single nucleotide variant	NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)	LMNA	Pathogenic/Likely pathogenic	1	156104651	156104651	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P02545#VAR_039771,ClinGen:CA018472
single nucleotide variant	NM_170707.4(LMNA):c.736C>T (p.Gln246Ter)	LMNA	Pathogenic	1	156104692	156104692	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018512
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