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.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.1247C>T (p.Thr416Ile)	GCDH	Likely pathogenic	19	13010285	13010285	C	T	criteria provided, single submitter	ClinGen:CA252096,UniProtKB:Q92947#VAR_000418,OMIM:608801.0003
single nucleotide variant	NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)	GCDH	Pathogenic/Likely pathogenic	19	13008638	13008638	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252097,UniProtKB:Q92947#VAR_000412,OMIM:608801.0004
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
single nucleotide variant	NM_000159.4(GCDH):c.636-1G>A	GCDH	Pathogenic/Likely pathogenic	19	13007018	13007018	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220440
single nucleotide variant	NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys)	GCDH	Pathogenic	19	13008674	13008674	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA234086,UniProtKB:Q92947#VAR_000417