マッカードル病

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
Duplication	NM_005609.4(PYGM):c.21_28dup (p.Lys10fs)	PYGM	Pathogenic/Likely pathogenic	11	64527342	64527343	T	TTCTCTTGG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_005609.4(PYGM):c.395_408del (p.Leu132fs)	PYGM	Pathogenic/Likely pathogenic	11	64525925	64525938	GGCCCCCGTTGCCCA	G	criteria provided, multiple submitters, no conflicts	-