脊髄性筋萎縮症

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	NM_002180.3(IGHMBP2):c.133del (p.Val45fs)	IGHMBP2	Pathogenic	11	68673583	68673583	CG	C	criteria provided, single submitter	-
Deletion	NC_000005.10:g.(?_70951931)_(70952001_?)del	SMN1	Pathogenic	5	70247758	70247828	na	na	criteria provided, single submitter	-
Deletion	NM_002180.3(IGHMBP2):c.729del (p.Ser244fs)	IGHMBP2	Likely pathogenic	11	68682304	68682304	GC	G	criteria provided, single submitter	-