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.18012+1G>T	SYNE1	Pathogenic	6	152614722	152614722	C	A	criteria provided, single submitter	-
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
single nucleotide variant	NM_170707.4(LMNA):c.810G>C (p.Lys270Asn)	LMNA	Likely pathogenic	1	156104766	156104766	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.618C>A (p.Phe206Leu)	LMNA	Likely pathogenic	1	156104298	156104298	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_170707.4(LMNA):c.1262_1263del (p.Leu421fs)	LMNA	Likely pathogenic	1	156106109	156106110	CTG	C	criteria provided, single submitter	-
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_001159699.2(FHL1):c.576C>A (p.Tyr192Ter)	FHL1	Likely pathogenic	X	135290640	135290640	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.23461-1G>A	SYNE1	Pathogenic	6	152497696	152497696	C	T	criteria provided, single submitter	-
Duplication	NM_170707.4(LMNA):c.11dup (p.Ser5fs)	LMNA	Pathogenic	1	156084716	156084717	A	AC	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.94A>T (p.Lys32Ter)	LMNA	Pathogenic	1	156084803	156084803	A	T	criteria provided, single submitter	-