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.357-2A>G	LMNA	Pathogenic	1	156100406	156100406	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.811-1G>A	LMNA	Likely pathogenic	1	156104977	156104977	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.19260+2T>C	SYNE1	Likely pathogenic	6	152576724	152576724	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_182961.4(SYNE1):c.10608+1G>C	SYNE1	Likely pathogenic	6	152679507	152679507	C	G	criteria provided, single submitter	-
Deletion	NM_182961.4(SYNE1):c.4975_4976+8del	SYNE1	Pathogenic	6	152749332	152749341	GCTGCTCACCT	G	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_152990712)_(153650075_?)del	EMD	Pathogenic	X	152990712	153650075	na	na	criteria provided, single submitter	-
Indel	NM_170707.4(LMNA):c.589_593delinsACTTGAAG (p.Leu197_Gln198delinsThrTer)	LMNA	Likely pathogenic	1	156104269	156104273	CTGCA	ACTTGAAG	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.16390-2A>G	SYNE1	Pathogenic/Likely pathogenic	6	152639400	152639400	T	C	criteria provided, multiple submitters, no conflicts	OMIM:608441.0001