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_182914.3(SYNE2):c.4397G>A (p.Arg1466Gln)	SYNE2	Likely pathogenic	14	64470048	64470048	G	A	criteria provided, single submitter	ClinGen:CA16621659
Deletion	NM_001159699.2(FHL1):c.108del (p.Gln37fs)	FHL1	Pathogenic	X	135288651	135288651	TG	T	criteria provided, single submitter	ClinGen:CA16616433
single nucleotide variant	NM_001159699.2(FHL1):c.261C>A (p.Cys87Ter)	FHL1	Pathogenic/Likely pathogenic	X	135289231	135289231	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606517
Duplication	NM_001159699.2(FHL1):c.360dup (p.Phe121fs)	FHL1	Pathogenic	X	135289329	135289330	G	GC	criteria provided, single submitter	ClinGen:CA658799873
Duplication	NM_001159699.2(FHL1):c.406_409dup (p.Val137fs)	FHL1	Pathogenic	X	135289975	135289976	G	GGACC	criteria provided, multiple submitters, no conflicts	-
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.416A>G (p.His139Arg)	FHL1	Pathogenic	X	135289987	135289987	A	G	criteria provided, single submitter	ClinGen:CA414608363
single nucleotide variant	NM_001159699.2(FHL1):c.417C>G (p.His139Gln)	FHL1	Pathogenic	X	135289988	135289988	C	G	criteria provided, single submitter	ClinGen:CA121571,UniProtKB:Q13642#VAR_075354,OMIM:300163.0016
Deletion	NM_001159699.2(FHL1):c.466_470del (p.Ser156fs)	FHL1	Pathogenic	X	135290037	135290041	AAGCTT	A	criteria provided, single submitter	ClinGen:CA658659045