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
Duplication	NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs)	FHL1	Pathogenic/Likely pathogenic	X	135292130	135292131	C	CTTTG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000117.3(EMD):c.16del (p.Asp6fs)	EMD	Likely pathogenic	X	153607860	153607860	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.994A>T (p.Arg332Ter)	SYNE1	Likely pathogenic	6	152809584	152809584	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.18715C>T (p.Gln6239Ter)	SYNE1	Pathogenic	6	152589291	152589291	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.13420C>T (p.Arg4474Ter)	SYNE1	Likely pathogenic	6	152652400	152652400	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.23995C>T (p.Arg7999Ter)	SYNE1	Likely pathogenic	6	152476161	152476161	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.639+1G>A	LMNA	Likely pathogenic	1	156104320	156104320	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr)	LMNA	Likely pathogenic	1	156104683	156104683	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.5098C>T (p.Gln1700Ter)	SYNE1	Pathogenic	6	152748830	152748830	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.3023G>A (p.Trp1008Ter)	SYNE1	Pathogenic	6	152774725	152774725	C	T	criteria provided, single submitter	-