先天性筋無力症候群

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_000080.4(CHRNE):c.992G>A (p.Arg331Gln)	CHRNE	Pathogenic/Likely pathogenic	17	4802803	4802803	C	T	criteria provided, multiple submitters, no conflicts	-
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	-
Indel	NM_000080.4(CHRNE):c.445_458delinsA (p.Ala149fs)	CHRNE	Pathogenic	17	4805269	4805282	GTGACCTCCACTGC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000080.4(CHRNE):c.361G>T (p.Gly121Ter)	CHRNE	Pathogenic	17	4805366	4805366	C	A	criteria provided, single submitter	-
Duplication	NM_000080.4(CHRNE):c.115dup (p.Ser39fs)	CHRNE	Pathogenic	17	4805989	4805990	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_000334.4(SCN4A):c.4388G>A (p.Arg1463His)	SCN4A	Pathogenic	17	62019254	62019254	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000334.4(SCN4A):c.4387C>A (p.Arg1463Ser)	SCN4A	Likely pathogenic	17	62019255	62019255	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000334.4(SCN4A):c.4307T>C (p.Leu1436Pro)	SCN4A	Pathogenic	17	62019335	62019335	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000334.4(SCN4A):c.2919del (p.Glu974fs)	SCN4A	Pathogenic	17	62026823	62026823	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000334.4(SCN4A):c.808C>A (p.Gln270Lys)	SCN4A	Pathogenic	17	62045611	62045611	G	T	criteria provided, single submitter	-