"Illumina Laboratory Services, Illumina"[submitter] AND "DGUOK"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 337040	NM_080916.2(DGUOK):c.-60_-57dup	DGUOK	Duplication	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 337041	NM_080916.2(DGUOK):c.-54C>A	DGUOK	Single nucleotide variant	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 137084	NM_080916.2(DGUOK):c.-48G>A	DGUOK	Single nucleotide variant	not specified +1 more	GBenign/Likely benign
Select item 337042	NM_080916.3(DGUOK):c.-21G>T	DGUOK	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GUncertain significance
Select item 337043	NM_080916.3(DGUOK):c.-8T>C	DGUOK	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more	GConflicting classifications of pathogenicity
Select item 337044	NM_080916.3(DGUOK):c.-1G>A	DGUOK	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +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)	DGUOK-related condition +2 more	GConflicting classifications of pathogenicity
Select item 895310	NM_080916.3(DGUOK):c.9G>T (p.Ala3=)	DGUOK, LOC129934096	Single nucleotide variant (5 prime UTR variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more	GConflicting classifications of pathogenicity
Select item 214283	NM_080916.3(DGUOK):c.123C>G (p.Leu41=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 337045	NM_080916.3(DGUOK):c.142+1G>T	DGUOK, LOC129934096	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GUncertain significance
Select item 488490	NM_080916.3(DGUOK):c.155C>T (p.Ser52Phe)	DGUOK (S52F)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GConflicting classifications of pathogenicity
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 208752	NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)	DGUOK (P71A)	Single nucleotide variant (missense variant +1 more)	DGUOK-related condition +6 more	GConflicting classifications of pathogenicity
Select item 895311	NM_080916.3(DGUOK):c.265G>A (p.Ala89Thr)	DGUOK (A89T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	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)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 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)	DGUOK-related condition +2 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 +3 more	GBenign/Likely benign
Select item 559368	NM_080916.3(DGUOK):c.492C>T (p.Ile164=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	not provided +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)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +4 more	GBenign/Likely benign
Select item 337047	NM_080916.3(DGUOK):c.568A>T (p.Ile190Phe)	DGUOK (I190F +2 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GUncertain significance
Select item 337048	NM_080916.3(DGUOK):c.592-9del	DGUOK	Deletion (intron variant)	Mitochondrial DNA depletion syndrome +2 more	GConflicting classifications of pathogenicity
Select item 197867	NM_080916.3(DGUOK):c.630G>A (p.Glu210=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	DGUOK-related condition +2 more	GConflicting classifications of pathogenicity
Select item 896732	NM_080916.3(DGUOK):c.655C>T (p.Leu219=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more	GConflicting classifications of pathogenicity
Select item 337049	NM_080916.3(DGUOK):c.664C>T (p.Leu222=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 897203	NM_080916.3(DGUOK):c.684C>G (p.Ala228=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GUncertain significance
Select item 337051	NM_080918.3(DGUOK):c.444-907AAGT[3]	DGUOK	Microsatellite (intron variant)	not provided +1 more	GUncertain significance
Select item 337050	NM_080916.3(DGUOK):c.705G>A (p.Thr235=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214279	NM_080916.3(DGUOK):c.708-3T>C	DGUOK-AS1, DGUOK	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 897204	NM_080916.3(DGUOK):c.*7C>T	DGUOK, DGUOK-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GUncertain significance
Select item 137083	NM_080916.3(DGUOK):c.*13A>T	DGUOK, DGUOK-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 +3 more	GBenign
Select item 897205	NM_080916.3(DGUOK):c.*119C>T	DGUOK, DGUOK-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GBenign
Select item 337052	NM_080916.3(DGUOK):c.*120G>A	DGUOK, DGUOK-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GUncertain significance
Select item 337053	NM_080916.3(DGUOK):c.206_210dup	DGUOK, DGUOK-AS1	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 33