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
Duplication	NM_000159.4(GCDH):c.727_730dup (p.Gly244fs)	GCDH	Likely pathogenic	19	13007108	13007109	T	TGCGG	criteria provided, single submitter	-
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	-
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	-
single nucleotide variant	NM_000159.4(GCDH):c.1317A>G (p.Ter439Trp)	GCDH	Likely pathogenic	19	13010355	13010355	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000159.4(GCDH):c.1239C>G (p.Tyr413Ter)	GCDH	Likely pathogenic	19	13008673	13008673	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.1244-2A>G	GCDH	Pathogenic/Likely pathogenic	19	13010280	13010280	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000159.4(GCDH):c.1082+1G>T	GCDH	Likely pathogenic	19	13008243	13008243	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.997C>T (p.Gln333Ter)	GCDH	Likely pathogenic	19	13008157	13008157	C	T	criteria provided, single submitter	-
Duplication	NM_000159.4(GCDH):c.646_649dup (p.Pro217fs)	GCDH	Likely pathogenic	19	13007027	13007028	A	ACTCG	criteria provided, single submitter	-
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	-