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_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)	TMEM43	Pathogenic	3	14183165	14183165	C	T	criteria provided, multiple submitters, no conflicts	OMIM:612048.0001,ClinGen:CA024568,UniProtKB:Q9BTV4#VAR_044438
single nucleotide variant	NM_182961.4(SYNE1):c.15918-12A>G	SYNE1	Pathogenic	6	152643033	152643033	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA252215,OMIM:608441.0002
single nucleotide variant	NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter)	SYNE1	Pathogenic	6	152702455	152702455	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252216,OMIM:608441.0003
single nucleotide variant	NM_182961.4(SYNE1):c.23131C>T (p.Gln7711Ter)	SYNE1	Pathogenic	6	152522973	152522973	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252219,OMIM:608441.0005
single nucleotide variant	NM_000117.3(EMD):c.1A>G (p.Met1Val)	EMD	Pathogenic	X	153607845	153607845	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA121381,OMIM:300384.0002
single nucleotide variant	NM_000117.3(EMD):c.130C>T (p.Gln44Ter)	EMD	Pathogenic	X	153608097	153608097	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA121384,OMIM:300384.0006
single nucleotide variant	NM_000117.3(EMD):c.548C>A (p.Pro183His)	EMD	Pathogenic	X	153609340	153609340	C	A	criteria provided, single submitter	ClinGen:CA121387,UniProtKB:P50402#VAR_005199,OMIM:300384.0008
single nucleotide variant	NM_001159699.2(FHL1):c.413G>C (p.Trp138Ser)	FHL1	Pathogenic	X	135289984	135289984	G	C	criteria provided, single submitter	ClinGen:CA210529,UniProtKB:Q13642#VAR_042603,OMIM:300163.0001
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
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