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
Deletion	NM_000080.4(CHRNE):c.1093del (p.Ala365fs)	CHRNE	Pathogenic/Likely pathogenic	17	4802619	4802619	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605279
single nucleotide variant	NM_005677.4(COLQ):c.529-2A>G	COLQ	Pathogenic/Likely pathogenic	3	15516460	15516460	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA2276113
single nucleotide variant	NM_005055.4(RAPSN):c.-199C>G	RAPSN	Pathogenic/Likely pathogenic	11	47470715	47470715	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587996
Deletion	NM_173660.5(DOK7):c.1263del (p.Ser422fs)	DOK7	Pathogenic/Likely pathogenic	4	3494970	3494970	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA351335,ClinVar:424773
Deletion	NM_173660.5(DOK7):c.596del (p.Ile199fs)	DOK7	Pathogenic/Likely pathogenic	4	3487329	3487329	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA277304
Duplication	NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs)	DOK7	Pathogenic/Likely pathogenic	4	3495188	3495189	G	GTCCAGTCTGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA276139
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_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_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_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