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.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.1582A>C (p.Thr528Pro)	LMNA	Pathogenic	1	156106997	156106997	A	C	criteria provided, single submitter	ClinGen:CA342823494
single nucleotide variant	NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)	LMNA	Pathogenic	1	156106995	156106995	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017498,UniProtKB:P02545#VAR_009995,OMIM:150330.0003
Deletion	NM_170707.4(LMNA):c.1579del (p.Arg527fs)	LMNA	Likely pathogenic	1	156106994	156106994	GC	G	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	-
single nucleotide variant	NM_170707.4(LMNA):c.1566C>A (p.Cys522Ter)	LMNA	Pathogenic	1	156106981	156106981	C	A	criteria provided, single submitter	ClinGen:CA10587415
single nucleotide variant	NM_170707.4(LMNA):c.1562G>T (p.Gly521Val)	LMNA	Likely pathogenic	1	156106977	156106977	G	T	criteria provided, single submitter	ClinGen:CA017452
single nucleotide variant	NM_170707.4(LMNA):c.1560G>A (p.Trp520Ter)	LMNA	Pathogenic	1	156106975	156106975	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017446
single nucleotide variant	NM_170707.4(LMNA):c.1559G>A (p.Trp520Ter)	LMNA	Pathogenic	1	156106974	156106974	G	A	criteria provided, single submitter	ClinGen:CA342823348
single nucleotide variant	NM_170707.4(LMNA):c.1558T>C (p.Trp520Arg)	LMNA	Pathogenic	1	156106973	156106973	T	C	criteria provided, single submitter	ClinGen:CA342823343