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
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.1399T>C (p.Trp467Arg)	LMNA	Likely pathogenic	1	156106730	156106730	T	C	criteria provided, single submitter	ClinGen:CA017177,UniProtKB:P02545#VAR_064974
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.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.1488+5G>C	LMNA	Pathogenic	1	156106824	156106824	G	C	criteria provided, single submitter	ClinGen:CA017326,OMIM:150330.0039
single nucleotide variant	NM_170707.4(LMNA):c.1494G>T (p.Trp498Cys)	LMNA	Likely pathogenic	1	156106909	156106909	G	T	criteria provided, single submitter	ClinGen:CA017364
single nucleotide variant	NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)	LMNA	Pathogenic/Likely pathogenic	1	156106998	156106998	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017504,UniProtKB:P02545#VAR_009996
single nucleotide variant	NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)	LMNA	Pathogenic/Likely pathogenic	1	156106998	156106998	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA017510,UniProtKB:P02545#VAR_039785
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
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