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.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
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.417C>G (p.His139Gln)	FHL1	Pathogenic	X	135289988	135289988	C	G	criteria provided, single submitter	ClinGen:CA121571,UniProtKB:Q13642#VAR_075354,OMIM:300163.0016
single nucleotide variant	NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter)	LAMA2	Pathogenic/Likely pathogenic	6	129636783	129636783	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220762,OMIM:156225.0002
single nucleotide variant	NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter)	LAMA2	Likely pathogenic	6	129837376	129837376	C	T	criteria provided, single submitter	ClinGen:CA257204,OMIM:156225.0005,ClinVar:424826
single nucleotide variant	NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)	LAMA2	Pathogenic	6	129802567	129802567	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220807,OMIM:156225.0008
single nucleotide variant	NM_000426.4(LAMA2):c.4645C>T (p.Arg1549Ter)	LAMA2	Pathogenic	6	129674430	129674430	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA123848,OMIM:156225.0011
single nucleotide variant	NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)	LAMA2	Pathogenic	6	129785589	129785589	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA123851,OMIM:156225.0012