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.856C>T (p.Pro286Ser)	GCDH	Likely pathogenic	19	13007727	13007727	C	T	criteria provided, single submitter	ClinGen:CA274776
single nucleotide variant	NM_000159.4(GCDH):c.1247C>T (p.Thr416Ile)	GCDH	Likely pathogenic	19	13010285	13010285	C	T	criteria provided, single submitter	ClinGen:CA252096,UniProtKB:Q92947#VAR_000418,OMIM:608801.0003