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
single nucleotide variant	NM_005609.4(PYGM):c.1561A>T (p.Lys521Ter)	PYGM	Pathogenic	11	64519934	64519934	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_005609.4(PYGM):c.1240-2A>G	PYGM	Likely pathogenic	11	64521156	64521156	T	C	criteria provided, single submitter	-