"Eurofins Ntd Llc (ga)"[submitter] AND "DGUOK"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 337044	NM_080916.3(DGUOK):c.-1G>A	DGUOK	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 214282	NM_080916.3(DGUOK):c.17T>A (p.Leu6His)	DGUOK, LOC129934096 (L6H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 498112	NM_080916.3(DGUOK):c.60G>A (p.Lys20=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 497803	NM_080916.3(DGUOK):c.80C>T (p.Ser27Phe)	DGUOK, LOC129934096 (S27F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 214283	NM_080916.3(DGUOK):c.123C>G (p.Leu41=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +2 more	GBenign/Likely benign
Select item 593140	NM_080916.3(DGUOK):c.127A>G (p.Ile43Val)	DGUOK, LOC129934096 (I43V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 214284	NM_080916.3(DGUOK):c.142+9C>T	DGUOK, LOC129934096	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 598270	NM_080916.3(DGUOK):c.143-4G>A	DGUOK	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
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 449312	NM_080916.3(DGUOK):c.195G>A (p.Trp65Ter)	DGUOK (W65*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 594276	NM_080916.3(DGUOK):c.198C>A (p.His66Gln)	DGUOK (H66Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 8153	NM_080916.3(DGUOK):c.255del (p.Ala86fs)	DGUOK (A86fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 598562	NM_080916.3(DGUOK):c.254_255delinsT (p.Lys85fs)	DGUOK (K85fs)	Indel (frameshift variant +1 more)	not provided	GPathogenic
Select item 289982	NM_080916.3(DGUOK):c.256-7C>T	DGUOK	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 595486	NM_080916.3(DGUOK):c.256-6C>T	DGUOK	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 289601	NM_080916.3(DGUOK):c.301C>T (p.Arg101Trp)	DGUOK (R101W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 498742	NM_080916.3(DGUOK):c.302G>A (p.Arg101Gln)	DGUOK (R101Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 289872	NM_080916.3(DGUOK):c.337T>C (p.Phe113Leu)	DGUOK (F113L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 286174	NM_080916.3(DGUOK):c.353G>A (p.Arg118His)	DGUOK (R118H +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more	GLikely pathogenic
Select item 502358	NM_080916.3(DGUOK):c.361G>C (p.Val121Leu)	DGUOK (V121L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 501467	NM_080916.3(DGUOK):c.370G>A (p.Glu124Lys)	DGUOK (E124K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 289534	NM_080916.3(DGUOK):c.405G>A (p.Lys135=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 393268	NM_080916.3(DGUOK):c.443+1G>A	DGUOK	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 594225	NM_080916.3(DGUOK):c.444-75TC[9]	DGUOK	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 253069	NM_080916.3(DGUOK):c.444-11C>G	DGUOK	Single nucleotide variant (intron variant)	not provided	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 +2 more	GPathogenic/Likely pathogenic
Select item 595262	NM_080916.3(DGUOK):c.494A>T (p.Glu165Val)	DGUOK (E165V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic/Likely pathogenic
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 597443	NM_080916.3(DGUOK):c.549G>T (p.Arg183=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 595263	NM_080916.3(DGUOK):c.559C>T (p.His187Tyr)	DGUOK (H187Y +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 214286	NM_080916.3(DGUOK):c.591G>A (p.Gln197=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	DGUOK-related disorder +4 more	GPathogenic
Select item 594372	NM_080916.3(DGUOK):c.592G>T (p.Val198Phe)	DGUOK (V198F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 598363	NM_080916.3(DGUOK):c.601A>G (p.Lys201Glu)	DGUOK (K201E +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 197867	NM_080916.3(DGUOK):c.630G>A (p.Glu210=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 500893	NM_080916.3(DGUOK):c.649G>A (p.Ala217Thr)	DGUOK (A217T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 596191	NM_080916.3(DGUOK):c.653A>G (p.Tyr218Cys)	DGUOK (Y218C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 337049	NM_080916.3(DGUOK):c.664C>T (p.Leu222=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 594873	NM_080916.3(DGUOK):c.688C>T (p.Leu230Phe)	DGUOK (L230F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 214278	NM_080916.3(DGUOK):c.697A>G (p.Lys233Glu)	DGUOK (K233E +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 596835	NM_080916.3(DGUOK):c.704C>T (p.Thr235Met)	DGUOK (T235M +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 214279	NM_080916.3(DGUOK):c.708-3T>C	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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
Select item 594070	NM_080916.3(DGUOK):c.808-10C>G	DGUOK, DGUOK-AS1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 137083	NM_080916.3(DGUOK):c.*13A>T	DGUOK, DGUOK-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GBenign

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Items: 47