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
Deletion	NC_000012.12:g.(?_6462812)_(6470551_?)del	VAMP1	Pathogenic	12	6571978	6579717	na	na	criteria provided, single submitter	-
Deletion	NM_014231.5(VAMP1):c.340del (p.Ile114fs)	VAMP1	Pathogenic/Likely pathogenic	12	6574056	6574056	CT	C	criteria provided, multiple submitters, no conflicts	OMIM:185880.0002