"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "DGUOK"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193482	NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser)	DGUOK, LOC129934096 (A2S)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more	GConflicting classifications of pathogenicity
Select item 214281	NM_080916.3(DGUOK):c.8C>G (p.Ala3Gly)	DGUOK, LOC129934096 (A3G)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1693816	NM_080916.3(DGUOK):c.70G>C (p.Glu24Gln)	DGUOK, LOC129934096 (E24Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3380824	NM_080916.3(DGUOK):c.129C>G (p.Ile43Met)	DGUOK, LOC129934096 (I43M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 137080	NM_080916.3(DGUOK):c.159G>A (p.Thr53=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 214277	NM_080916.3(DGUOK):c.176C>G (p.Thr59Arg)	DGUOK (T59R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 208752	NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)	DGUOK (P71A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GUncertain significance
Select item 337046	NM_080916.3(DGUOK):c.366G>C (p.Gln122His)	DGUOK (Q122H +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more	GConflicting classifications of pathogenicity
Select item 137081	NM_080916.3(DGUOK):c.423G>A (p.Glu141=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
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 +2 more	GPathogenic/Likely pathogenic
Select item 559368	NM_080916.3(DGUOK):c.492C>T (p.Ile164=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more	GConflicting classifications of pathogenicity
Select item 137082	NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg)	DGUOK (Q170R +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 +4 more	GBenign/Likely benign
Select item 214289	NM_080916.3(DGUOK):c.758A>G (p.Asn253Ser)	DGUOK, DGUOK-AS1 (N253S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity