グルタル酸血症1型

小児・神経疾患

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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_000159.4(GCDH):c.1182T>G (p.Ile394Met)	GCDH	Pathogenic	19	13008616	13008616	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.1298C>A (p.Ala433Glu)	GCDH	Pathogenic/Likely pathogenic	19	13010336	13010336	C	A	criteria provided, multiple submitters, no conflicts	-