先天性筋無力症候群

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_005984.5(SLC25A1):c.821C>T (p.Ala274Val)	SLC25A1	Likely pathogenic	22	19163934	19163934	G	A	criteria provided, single submitter	ClinGen:CA130984,OMIM:190315.0005
Deletion	NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs)	SLC25A1	Pathogenic/Likely pathogenic	22	19164633	19164642	CCTTGTTCCCG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA130986,OMIM:190315.0006
single nucleotide variant	NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe)	DPAGT1	Pathogenic/Likely pathogenic	11	118972281	118972281	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA264783,OMIM:191350.0010
single nucleotide variant	NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe)	AGRN	Likely pathogenic	1	986143	986143	G	T	criteria provided, single submitter	ClinGen:CA151196,OMIM:103320.0002
single nucleotide variant	NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)	SCN4A	Pathogenic/Likely pathogenic	17	62048561	62048561	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345718,UniProtKB:P35499#VAR_054935
single nucleotide variant	NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)	SCN4A	Pathogenic	17	62024442	62024442	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA345720,UniProtKB:P35499#VAR_054944
single nucleotide variant	NM_000080.4(CHRNE):c.1033-2A>T	CHRNE	Pathogenic/Likely pathogenic	17	4802681	4802681	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274489
single nucleotide variant	NM_000079.4(CHRNA1):c.687C>T (p.Arg229=)	CHRNA1	Likely pathogenic	2	175618322	175618322	G	A	criteria provided, single submitter	ClinGen:CA199695
single nucleotide variant	NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr)	MUSK	Pathogenic/Likely pathogenic	9	113547944	113547944	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA5184434,UniProtKB:O15146#VAR_072787,OMIM:601296.0006
single nucleotide variant	NM_020549.5(CHAT):c.418C>T (p.Gln140Ter)	CHAT	Pathogenic	10	50827801	50827801	C	T	criteria provided, single submitter	ClinGen:CA275188