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_182961.4(SYNE1):c.23995C>T (p.Arg7999Ter)	SYNE1	Likely pathogenic	6	152476161	152476161	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.24127G>T (p.Glu8043Ter)	SYNE1	Pathogenic	6	152476029	152476029	C	A	criteria provided, single submitter	ClinGen:CA16604879
single nucleotide variant	NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter)	SYNE1	Pathogenic	6	152473185	152473185	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter)	SYNE1	Pathogenic	6	152470677	152470677	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA4053145,OMIM:608441.0018
Deletion	NM_001347702.2(SYNE1):c.1455del (p.Glu486fs)	SYNE1	Likely pathogenic	6	152466677	152466677	CG	C	criteria provided, single submitter	ClinGen:CA658796842
Deletion	NM_182961.2(SYNE1):c.24979del	SYNE1	Pathogenic	6	152464898	152464898	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter)	SYNE1	Pathogenic	6	152464868	152464868	G	A	criteria provided, single submitter	ClinGen:CA277296
single nucleotide variant	NM_182961.4(SYNE1):c.26236C>T (p.Arg8746Ter)	SYNE1	Pathogenic	6	152443729	152443729	G	A	criteria provided, single submitter	OMIM:608441.0019
Deletion	NC_000006.12:g.(?_152122416)_(153426916_?)del	SYNE1	Pathogenic	6	152443551	153748051	na	na	criteria provided, single submitter	-
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	-