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Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DGUOK
Single nucleotide variant
(5 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
+1 more
GConflicting classifications of pathogenicity
DGUOK, LOC129934096
(A2S)
Single nucleotide variant
(missense variant +2 more)
DGUOK-related condition
+2 more
GConflicting classifications of pathogenicity
DGUOK, LOC129934096
(L6H)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
DGUOK, LOC129934096
Single nucleotide variant
(synonymous variant +2 more)
DGUOK-related condition
+1 more
GConflicting classifications of pathogenicity
DGUOK, LOC129934096
(S27F)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DGUOK, LOC129934096
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GBenign/Likely benign
DGUOK, LOC129934096
(I43V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
LOC129934096, DGUOK
Single nucleotide variant
(intron variant)
DGUOK-related condition
+2 more
GBenign/Likely benign
DGUOK
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
DGUOK
(T59R)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
DGUOK
(W65*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
DGUOK
(H66Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DGUOK
(P71A)
Single nucleotide variant
(missense variant +1 more)
DGUOK-related condition
+6 more
GConflicting classifications of pathogenicity
DGUOK
(A86fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
DGUOK
(K85fs)
Indel
(frameshift variant +1 more)
not provided
GPathogenic
DGUOK
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DGUOK
Single nucleotide variant
(intron variant)
DGUOK-related condition
+1 more
GConflicting classifications of pathogenicity
DGUOK
(R101W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DGUOK
(R101Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DGUOK
(F113L +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
+1 more
GUncertain significance
DGUOK
(R118H +1 more)
Single nucleotide variant
(missense variant +1 more)
DGUOK-related condition
+1 more
GLikely pathogenic
DGUOK
(V121L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DGUOK
(Q122H +1 more)
Single nucleotide variant
(missense variant +1 more)
DGUOK-related condition
+2 more
GConflicting classifications of pathogenicity
DGUOK
(E124K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DGUOK
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
DGUOK
Single nucleotide variant
(splice donor variant +1 more)
not provided
GPathogenic
DGUOK
Microsatellite
(intron variant)
not provided
GUncertain significance
DGUOK
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
DGUOK
(N154K +2 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
+3 more
GConflicting classifications of pathogenicity
DGUOK
(E165V +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic/Likely pathogenic
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
DGUOK
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
DGUOK
(H187Y +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DGUOK
Single nucleotide variant
(synonymous variant +2 more)
DGUOK-Related Disorders
+4 more
GPathogenic
DGUOK
(V198F +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DGUOK
(K201E +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DGUOK
Single nucleotide variant
(synonymous variant +2 more)
DGUOK-related condition
+2 more
GConflicting classifications of pathogenicity
DGUOK
(A217T +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DGUOK
(Y218C +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
DGUOK
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
DGUOK
(L230F +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DGUOK
(K233E +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DGUOK
(T235M +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
DGUOK, DGUOK-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
DGUOK, DGUOK-AS1
(N253S +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
DGUOK, DGUOK-AS1
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
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
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