"Revvity Omics, Revvity"[submitter] AND "DGUOK"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440751	NM_080916.3(DGUOK):c.7G>C (p.Ala3Pro)	DGUOK, LOC129934096 (A3P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2440750	NM_080916.3(DGUOK):c.52A>G (p.Met18Val)	DGUOK, LOC129934096 (M18V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 253066	NM_080916.3(DGUOK):c.130G>A (p.Glu44Lys)	DGUOK, LOC129934096 (E44K)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic/Likely pathogenic
Select item 214277	NM_080916.3(DGUOK):c.176C>G (p.Thr59Arg)	DGUOK (T59R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1324226	NM_080916.3(DGUOK):c.352C>T (p.Arg118Cys)	DGUOK (R118C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 214285	NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)	DGUOK (N154K +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2440752	NM_080916.3(DGUOK):c.545G>C (p.Ser182Thr)	DGUOK (S182T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 8155	NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter)	DGUOK, DGUOK-AS1 (F162* +4 more)	Duplication (non-coding transcript variant +1 more)	DGUOK-related disorder +2 more	GPathogenic/Likely pathogenic