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.3G>A (p.Met1Ile)	GCDH	Likely pathogenic	19	13002121	13002121	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.1A>C (p.Met1Leu)	GCDH	Likely pathogenic	19	13002119	13002119	A	C	criteria provided, multiple submitters, no conflicts	-