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.1262C>T (p.Ala421Val)	GCDH	Pathogenic	19	13010300	13010300	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:Q92947#VAR_000420,OMIM:608801.0002,ClinGen:CA252095
single nucleotide variant	NM_000159.4(GCDH):c.883T>C (p.Tyr295His)	GCDH	Pathogenic	19	13007754	13007754	T	C	criteria provided, single submitter	ClinGen:CA252094,UniProtKB:Q92947#VAR_000389,OMIM:608801.0001