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_020549.5(CHAT):c.1669G>A (p.Ala557Thr)	CHAT	Pathogenic/Likely pathogenic	10	50863175	50863175	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5497591
Deletion	NM_020549.5(CHAT):c.669del (p.Gln223fs)	CHAT	Pathogenic	10	50828630	50828630	AG	A	criteria provided, single submitter	ClinGen:CA658657962
single nucleotide variant	NM_005055.5(RAPSN):c.853C>T (p.Gln285Ter)	RAPSN	Pathogenic	11	47463222	47463222	G	A	criteria provided, single submitter	ClinGen:CA380329271
single nucleotide variant	NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)	RAPSN	Pathogenic/Likely pathogenic	11	47469525	47469525	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA380334223
Deletion	NM_000080.4(CHRNE):c.250del (p.Arg84fs)	CHRNE	Pathogenic	17	4805606	4805606	CG	C	criteria provided, single submitter	ClinGen:CA658658529
Duplication	NM_000080.4(CHRNE):c.1181_1187dup (p.Glu396delinsAspValTer)	CHRNE	Pathogenic	17	4802524	4802525	C	CTCAAACA	criteria provided, multiple submitters, no conflicts	ClinGen:CA624855850
Duplication	NM_000080.4(CHRNE):c.1077_1098dup (p.Ser367fs)	CHRNE	Pathogenic	17	4802613	4802614	A	AGGCGGCCCGGGGGGCCTCGGGC	criteria provided, single submitter	ClinGen:CA658658525
single nucleotide variant	NM_000080.4(CHRNE):c.764C>T (p.Ser255Leu)	CHRNE	Pathogenic	17	4804323	4804323	G	A	criteria provided, single submitter	ClinGen:CA397304818
single nucleotide variant	NM_000080.3(CHRNE):c.-95G>A	CHRNE	Pathogenic/Likely pathogenic	17	4806453	4806453	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA287187618
single nucleotide variant	NM_000334.4(SCN4A):c.3425G>A (p.Arg1142Gln)	SCN4A	Pathogenic	17	62024421	62024421	C	T	criteria provided, single submitter	ClinGen:CA8709288,OMIM:603967.0040