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.1298C>A (p.Ala433Glu)	GCDH	Pathogenic/Likely pathogenic	19	13010336	13010336	C	A	criteria provided, multiple submitters, no conflicts	-
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.1249C>G (p.His417Asp)	GCDH	Pathogenic	19	13010287	13010287	C	G	criteria provided, single submitter	ClinGen:CA404322111
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.1244-2A>G	GCDH	Pathogenic/Likely pathogenic	19	13010280	13010280	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000159.4(GCDH):c.1244-2A>C	GCDH	Pathogenic	19	13010280	13010280	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274964
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
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.1239C>A (p.Tyr413Ter)	GCDH	Pathogenic/Likely pathogenic	19	13008673	13008673	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274339