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.339T>G (p.Tyr113Ter)	GCDH	Likely pathogenic	19	13004301	13004301	T	G	criteria provided, single submitter	ClinGen:CA16041967
single nucleotide variant	NM_000159.4(GCDH):c.382C>T (p.Arg128Ter)	GCDH	Pathogenic	19	13004344	13004344	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234380
single nucleotide variant	NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)	GCDH	Pathogenic/Likely pathogenic	19	13004345	13004345	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274331
single nucleotide variant	NM_000159.4(GCDH):c.386A>C (p.Glu129Ala)	GCDH	Pathogenic	19	13004348	13004348	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.395G>A (p.Arg132Gln)	GCDH	Pathogenic/Likely pathogenic	19	13004357	13004357	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608038
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.482G>A (p.Arg161Gln)	GCDH	Pathogenic/Likely pathogenic	19	13004444	13004444	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273961,UniProtKB:Q92947#VAR_000375
Deletion	NM_000159.4(GCDH):c.505+1_505+8del	GCDH	Likely pathogenic	19	13004465	13004472	CTGGGTGAG	C	criteria provided, single submitter	ClinGen:CA16041968
single nucleotide variant	NM_000159.4(GCDH):c.514G>T (p.Glu172Ter)	GCDH	Pathogenic/Likely pathogenic	19	13006814	13006814	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041969
single nucleotide variant	NM_000159.4(GCDH):c.532G>A (p.Gly178Arg)	GCDH	Pathogenic/Likely pathogenic	19	13006832	13006832	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234423