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.262C>A (p.Arg88Ser)	GCDH	Pathogenic/Likely pathogenic	19	13002779	13002779	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA305500199
single nucleotide variant	NM_000159.4(GCDH):c.268G>A (p.Glu90Lys)	GCDH	Likely pathogenic	19	13002785	13002785	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA305500200
single nucleotide variant	NM_000159.4(GCDH):c.271+1G>A	GCDH	Pathogenic/Likely pathogenic	19	13002789	13002789	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274289
single nucleotide variant	NM_000159.4(GCDH):c.272-2A>C	GCDH	Likely pathogenic	19	13002928	13002928	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)	GCDH	Pathogenic/Likely pathogenic	19	13002939	13002939	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234312
single nucleotide variant	NM_000159.4(GCDH):c.281G>T (p.Arg94Leu)	GCDH	Pathogenic/Likely pathogenic	19	13002939	13002939	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404315814
single nucleotide variant	NM_000159.4(GCDH):c.301G>A (p.Gly101Arg)	GCDH	Pathogenic/Likely pathogenic	19	13002959	13002959	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000159.4(GCDH):c.329_332del (p.Ile110fs)	GCDH	Pathogenic/Likely pathogenic	19	13002986	13002989	CATCA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684222
single nucleotide variant	NM_000159.4(GCDH):c.334G>T (p.Gly112Ter)	GCDH	Pathogenic/Likely pathogenic	19	13002992	13002992	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000159.4(GCDH):c.337T>C (p.Tyr113His)	GCDH	Pathogenic/Likely pathogenic	19	13004299	13004299	T	C	criteria provided, multiple submitters, no conflicts	-