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.1458G>T (p.Lys486Asn)	LMNA	Pathogenic	1	156106789	156106789	G	T	criteria provided, single submitter	ClinGen:CA017283,UniProtKB:P02545#VAR_009994
single nucleotide variant	NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)	LMNA	Pathogenic	1	156106775	156106775	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017258,UniProtKB:P02545#VAR_009993,OMIM:150330.0011
Deletion	NM_170707.4(LMNA):c.1436del (p.Leu479fs)	LMNA	Pathogenic/Likely pathogenic	1	156106767	156106767	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656966
single nucleotide variant	NM_170707.4(LMNA):c.1412G>A (p.Arg471His)	LMNA	Pathogenic/Likely pathogenic	1	156106743	156106743	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017220,UniProtKB:P02545#VAR_070182
single nucleotide variant	NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly)	LMNA	Likely pathogenic	1	156106742	156106742	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA017206
single nucleotide variant	NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter)	LMNA	Pathogenic	1	156106732	156106732	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017193
single nucleotide variant	NM_170707.4(LMNA):c.1399T>C (p.Trp467Arg)	LMNA	Likely pathogenic	1	156106730	156106730	T	C	criteria provided, single submitter	ClinGen:CA017177,UniProtKB:P02545#VAR_064974
Deletion	NM_170707.4(LMNA):c.1397del (p.Asn466fs)	LMNA	Pathogenic	1	156106727	156106727	CA	C	criteria provided, single submitter	ClinGen:CA017170
single nucleotide variant	NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp)	LMNA	Pathogenic/Likely pathogenic	1	156106725	156106725	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017164,UniProtKB:P02545#VAR_009989,OMIM:150330.0015
single nucleotide variant	NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro)	LMNA	Likely pathogenic	1	156106716	156106716	A	C	criteria provided, single submitter	ClinGen:CA342822406