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.1239C>G (p.Tyr413Ter)	GCDH	Likely pathogenic	19	13008673	13008673	C	G	criteria provided, single submitter	-
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	-
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.1118A>G (p.Asn373Ser)	GCDH	Likely pathogenic	19	13008552	13008552	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.883T>C (p.Tyr295His)	GCDH	Pathogenic	19	13007754	13007754	T	C	criteria provided, single submitter	ClinGen:CA252094,UniProtKB:Q92947#VAR_000389,OMIM:608801.0001
single nucleotide variant	NM_000159.4(GCDH):c.1262C>T (p.Ala421Val)	GCDH	Pathogenic	19	13010300	13010300	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:Q92947#VAR_000420,OMIM:608801.0002,ClinGen:CA252095
single nucleotide variant	NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys)	GCDH	Pathogenic	19	13008527	13008527	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:Q92947#VAR_000402,OMIM:608801.0005,ClinGen:CA252098
single nucleotide variant	NM_000159.4(GCDH):c.1198G>A (p.Val400Met)	GCDH	Pathogenic	19	13008632	13008632	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252099,UniProtKB:Q92947#VAR_000411,OMIM:608801.0008
single nucleotide variant	NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)	GCDH	Pathogenic	19	13007063	13007063	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA220441,UniProtKB:Q92947#VAR_000380,OMIM:608801.0009
single nucleotide variant	NM_000159.4(GCDH):c.542A>G (p.Glu181Gly)	GCDH	Pathogenic	19	13006842	13006842	A	G	criteria provided, single submitter	ClinGen:CA220438