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_001159699.2(FHL1):c.497G>A (p.Cys166Tyr)	FHL1	Pathogenic	X	135290068	135290068	G	A	criteria provided, single submitter	ClinGen:CA121552,UniProtKB:Q13642#VAR_075356,OMIM:300163.0008
single nucleotide variant	NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg)	FHL1	Likely pathogenic	X	135290076	135290076	T	C	criteria provided, single submitter	ClinGen:CA121548,UniProtKB:Q13642#VAR_046001,OMIM:300163.0006
Deletion	NM_001159699.2(FHL1):c.525del (p.Lys176fs)	FHL1	Likely pathogenic	X	135290095	135290095	GC	G	criteria provided, single submitter	ClinGen:CA16621206
single nucleotide variant	NM_001159699.2(FHL1):c.550-2A>G	FHL1	Pathogenic	X	135290612	135290612	A	G	criteria provided, single submitter	ClinGen:CA414608683,OMIM:300163.0018
single nucleotide variant	NM_001159699.2(FHL1):c.576C>A (p.Tyr192Ter)	FHL1	Likely pathogenic	X	135290640	135290640	C	A	criteria provided, single submitter	-
Duplication	NM_001159699.2(FHL1):c.661dup (p.Asp221fs)	FHL1	Pathogenic/Likely pathogenic	X	135290723	135290724	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799874
Duplication	NM_001159699.2(FHL1):c.670_671dup (p.Cys225fs)	FHL1	Likely pathogenic	X	135290733	135290734	T	TTA	criteria provided, single submitter	-
single nucleotide variant	NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)	FHL1	Pathogenic/Likely pathogenic	X	135290784	135290784	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA255927,UniProtKB:Q13642#VAR_042605,OMIM:300163.0002
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	NC_000006.12:g.(?_152122416)_(153426916_?)del	SYNE1	Pathogenic	6	152443551	153748051	na	na	criteria provided, single submitter	-