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.268G>A (p.Glu90Lys)	GCDH	Likely pathogenic	19	13002785	13002785	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA305500200
single nucleotide variant	NM_000159.4(GCDH):c.262C>A (p.Arg88Ser)	GCDH	Pathogenic/Likely pathogenic	19	13002779	13002779	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA305500199
single nucleotide variant	NM_000159.4(GCDH):c.262C>T (p.Arg88Cys)	GCDH	Pathogenic	19	13002779	13002779	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274425,UniProtKB:Q92947#VAR_000366
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
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
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
single nucleotide variant	NM_000159.4(GCDH):c.192G>T (p.Glu64Asp)	GCDH	Pathogenic/Likely pathogenic	19	13002709	13002709	G	T	criteria provided, multiple submitters, no conflicts	-
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.80_81del (p.Ala27fs)	GCDH	Likely pathogenic	19	13002197	13002198	GGC	G	criteria provided, single submitter	ClinGen:CA16041962
Deletion	NM_000159.4(GCDH):c.79del (p.Ala27fs)	GCDH	Pathogenic/Likely pathogenic	19	13002196	13002196	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041961