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_198576.4(AGRN):c.226G>A (p.Gly76Ser)	AGRN	Likely pathogenic	1	957605	957605	G	A	criteria provided, single submitter	ClinGen:CA507784
Deletion	NC_000001.11:g.(?_1020153)_(1313808_?)del	AGRN	Pathogenic	1	955533	1249188	na	na	criteria provided, single submitter	-