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
Indel	NM_000080.4(CHRNE):c.445_458delinsA (p.Ala149fs)	CHRNE	Pathogenic	17	4805269	4805282	GTGACCTCCACTGC	T	criteria provided, single submitter	-
Deletion	NM_000080.4(CHRNE):c.684_687del (p.Asp229fs)	CHRNE	Pathogenic/Likely pathogenic	17	4804400	4804403	CGTCA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln)	CHRNE	Pathogenic/Likely pathogenic	17	4802803	4802803	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000080.4(CHRNE):c.1250_1268dup (p.Val424fs)	CHRNE	Pathogenic	17	4802353	4802354	A	ACAGCAGCGGACCTCGGGGG	criteria provided, single submitter	-
Duplication	NM_000080.4(CHRNE):c.1323dup (p.Glu442fs)	CHRNE	Pathogenic	17	4802298	4802299	C	CG	criteria provided, single submitter	-
Deletion	NM_000080.4(CHRNE):c.1371del (p.Cys458fs)	CHRNE	Pathogenic/Likely pathogenic	17	4802142	4802142	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000334.4(SCN4A):c.2065C>T (p.Leu689Phe)	SCN4A	Likely pathogenic	17	62034833	62034833	G	A	criteria provided, single submitter	-
Deletion	NM_000080.4(CHRNE):c.1081_1099del (p.Glu361fs)	CHRNE	Pathogenic	17	4802613	4802631	GAGGCGGCCCGGGGGGCCTC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000334.4(SCN4A):c.2874T>A (p.Tyr958Ter)	SCN4A	Likely pathogenic	17	62026868	62026868	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000080.4(CHRNE):c.799C>T (p.Gln267Ter)	CHRNE	Pathogenic	17	4804288	4804288	G	A	criteria provided, single submitter	-