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.116A>T (p.Asn39Ile)	LMNA	Likely pathogenic	1	156084825	156084825	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.143G>C (p.Arg48Pro)	LMNA	Pathogenic/Likely pathogenic	1	156084852	156084852	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_170707.4(LMNA):c.601A>T (p.Lys201Ter)	LMNA	Pathogenic	1	156104281	156104281	A	T	criteria provided, single submitter	-
Deletion	NM_170707.4(LMNA):c.857_859del (p.Gly286del)	LMNA	Likely pathogenic	1	156105022	156105024	TGGG	T	criteria provided, single submitter	-
Deletion	NM_170707.4(LMNA):c.1030del (p.Glu344fs)	LMNA	Pathogenic	1	156105783	156105783	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1156A>G (p.Arg386Gly)	LMNA	Pathogenic	1	156105911	156105911	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1264G>T (p.Glu422Ter)	LMNA	Pathogenic	1	156106111	156106111	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1541G>A (p.Trp514Ter)	LMNA	Pathogenic	1	156106956	156106956	G	A	criteria provided, single submitter	-
Deletion	NM_170707.4(LMNA):c.1580_1586del (p.Arg527fs)	LMNA	Pathogenic	1	156106993	156106999	TGCGTACG	T	criteria provided, single submitter	-
Duplication	NM_170707.4(LMNA):c.1657dup (p.Asp553fs)	LMNA	Pathogenic	1	156107492	156107493	C	CG	criteria provided, single submitter	-