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
Deletion	NM_000159.4(GCDH):c.636-3_639del	GCDH	Likely pathogenic	19	13007015	13007021	CCCAGGAT	C	criteria provided, single submitter	ClinGen:CA658684223
Deletion	NM_000159.4(GCDH):c.636-4_639del	GCDH	Pathogenic/Likely pathogenic	19	13007014	13007021	CCCCAGGAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234457
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.1064G>A (p.Arg355His)	GCDH	Pathogenic	19	13008224	13008224	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234590
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.737C>T (p.Ser246Leu)	GCDH	Likely pathogenic	19	13007120	13007120	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234477
single nucleotide variant	NM_000159.4(GCDH):c.397G>A (p.Val133Met)	GCDH	Pathogenic	19	13004359	13004359	G	A	criteria provided, single submitter	ClinGen:CA404317460
single nucleotide variant	NM_000159.4(GCDH):c.881G>C (p.Arg294Pro)	GCDH	Pathogenic	19	13007752	13007752	G	C	criteria provided, single submitter	ClinGen:CA404319364
single nucleotide variant	NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys)	GCDH	Pathogenic/Likely pathogenic	19	13008223	13008223	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234589
single nucleotide variant	NM_000159.4(GCDH):c.956+5G>A	GCDH	Likely pathogenic	19	13007832	13007832	G	A	criteria provided, single submitter	ClinGen:CA645369741