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.172G>T (p.Glu58Ter)	GCDH	Pathogenic/Likely pathogenic	19	13002689	13002689	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041963
Deletion	NM_000159.4(GCDH):c.198del (p.Ile67fs)	GCDH	Pathogenic/Likely pathogenic	19	13002715	13002715	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041964
Deletion	NM_000159.4(GCDH):c.219del (p.Tyr74fs)	GCDH	Pathogenic/Likely pathogenic	19	13002735	13002735	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041965
single nucleotide variant	NM_000159.4(GCDH):c.226C>T (p.Gln76Ter)	GCDH	Pathogenic/Likely pathogenic	19	13002743	13002743	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041966
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
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
Deletion	NM_000159.4(GCDH):c.665_668del (p.Leu221_Phe222insTer)	GCDH	Likely pathogenic	19	13007045	13007048	CTGTT	C	criteria provided, single submitter	ClinGen:CA16041970