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	NC_000017.11:g.(?_7454277)_(7454540_?)del	CHRNB1	Pathogenic	17	7357596	7357859	na	na	criteria provided, single submitter	-
Deletion	NM_000080.4(CHRNE):c.1072_1091del (p.Pro358fs)	CHRNE	Pathogenic	17	4802621	4802640	CCGGGGGGCCTCGGGCGGCGG	C	criteria provided, single submitter	ClinGen:CA287180227
single nucleotide variant	NM_000080.4(CHRNE):c.1380G>A (p.Trp460Ter)	CHRNE	Pathogenic	17	4802133	4802133	C	T	criteria provided, single submitter	ClinGen:CA397297687
single nucleotide variant	NM_000334.4(SCN4A):c.692C>T (p.Thr231Met)	SCN4A	Likely pathogenic	17	62048533	62048533	G	A	criteria provided, single submitter	ClinGen:CA292972551
Deletion	NM_000080.4(CHRNE):c.1244_1257del (p.Ala415fs)	CHRNE	Likely pathogenic	17	4802365	4802378	CCTCGGGGGCGGCGG	C	criteria provided, single submitter	ClinGen:CA658798679
single nucleotide variant	NM_000080.4(CHRNE):c.1326+1G>A	CHRNE	Pathogenic/Likely pathogenic	17	4802295	4802295	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA397298067
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
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_000080.4(CHRNE):c.764C>T (p.Ser255Leu)	CHRNE	Pathogenic	17	4804323	4804323	G	A	criteria provided, single submitter	ClinGen:CA397304818
Duplication	NM_000080.4(CHRNE):c.1077_1098dup (p.Ser367fs)	CHRNE	Pathogenic	17	4802613	4802614	A	AGGCGGCCCGGGGGGCCTCGGGC	criteria provided, single submitter	ClinGen:CA658658525