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
Indel	NM_170707.4(LMNA):c.1587_1588delinsCT (p.Leu530Phe)	LMNA	Pathogenic	1	156107002	156107003	TC	CT	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)	LMNA	Pathogenic/Likely pathogenic	1	156107003	156107003	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA342823527
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.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.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	-
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