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.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.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.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.1A>C (p.Met1Leu)	GCDH	Likely pathogenic	19	13002119	13002119	A	C	criteria provided, multiple submitters, no conflicts	-
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.881G>T (p.Arg294Leu)	GCDH	Likely pathogenic	19	13007752	13007752	G	T	criteria provided, single submitter	ClinGen:CA404319365
Deletion	NM_000159.4(GCDH):c.636-3_639del	GCDH	Likely pathogenic	19	13007015	13007021	CCCAGGAT	C	criteria provided, single submitter	ClinGen:CA658684223