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.1213A>G (p.Met405Val)	GCDH	Pathogenic	19	13008647	13008647	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA274948
single nucleotide variant	NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln)	GCDH	Pathogenic/Likely pathogenic	19	13008639	13008639	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274253,UniProtKB:Q92947#VAR_000413
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.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.1182T>G (p.Ile394Met)	GCDH	Pathogenic	19	13008616	13008616	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000159.4(GCDH):c.1169G>C (p.Gly390Ala)	GCDH	Likely pathogenic	19	13008603	13008603	G	C	criteria provided, single submitter	ClinGen:CA16041974
single nucleotide variant	NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)	GCDH	Pathogenic/Likely pathogenic	19	13008602	13008602	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274950,UniProtKB:Q92947#VAR_000408
Deletion	NM_000159.4(GCDH):c.1173del (p.Asn392fs)	GCDH	Pathogenic/Likely pathogenic	19	13008601	13008601	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA9234625
Duplication	NM_000159.4(GCDH):c.1173dup (p.Asn392fs)	GCDH	Pathogenic/Likely pathogenic	19	13008600	13008601	T	TG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000159.4(GCDH):c.1156C>G (p.Arg386Gly)	GCDH	Pathogenic/Likely pathogenic	19	13008590	13008590	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608043