U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DGUOK
Microsatellite
(intron variant +1 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
GLikely pathogenic
DGUOK
(K129fs +1 more)
Microsatellite
(non-coding transcript variant +1 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
GLikely pathogenic
DGUOK
(L58P)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
GLikely pathogenic
DGUOK, LOC129934096
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
GLikely pathogenic
DGUOK
(L58fs)
Deletion
(frameshift variant +1 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
GPathogenic
DGUOK
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DGUOK, LOC129934096
(R5C)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
DGUOK, DGUOK-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
GBenign
DGUOK, DGUOK-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
GUncertain significance
DGUOK
Single nucleotide variant
(synonymous variant +2 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
GUncertain significance
DGUOK
Single nucleotide variant
(synonymous variant +2 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
+1 more
GConflicting classifications of pathogenicity
DGUOK
(A89T)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
DGUOK, LOC129934096
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DGUOK
Microsatellite
(splice donor variant +1 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
+1 more
GPathogenic
DGUOK
Single nucleotide variant
(splice donor variant +1 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
GLikely pathogenic
DGUOK
Single nucleotide variant
(synonymous variant +2 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
+1 more
GConflicting classifications of pathogenicity
DGUOK, LOC129934096
(P22L)
Single nucleotide variant
(missense variant +2 more)
Migraine with aura
+8 more
GUncertain significance
DGUOK
(G93E)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
+7 more
GUncertain significance
DGUOK, DGUOK-AS1
(L250S +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic
DGUOK
(S52F)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
+1 more
GConflicting classifications of pathogenicity
DGUOK
(K51R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DGUOK, DGUOK-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
GUncertain significance
DGUOK
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
DGUOK
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DGUOK
(I190F +2 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
GUncertain significance
DGUOK
(Q122H +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
+1 more
GConflicting classifications of pathogenicity
DGUOK, LOC129934096
Single nucleotide variant
(splice donor variant)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
GUncertain significance
DGUOK
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DGUOK
Single nucleotide variant
(5 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
GUncertain significance
DGUOK
Single nucleotide variant
(5 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
GUncertain significance
DGUOK
(F113L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DGUOK
(R118H +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
+1 more
GLikely pathogenic
DGUOK, DGUOK-AS1
(L266R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
DGUOK, LOC129934096
(N46S)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic/Likely pathogenic
DGUOK
(R105fs +2 more)
Microsatellite
(frameshift variant +2 more)
not provided
+1 more
GPathogenic
DGUOK
Single nucleotide variant
(synonymous variant +2 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
+4 more
GPathogenic
DGUOK
(N154K +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
DGUOK, LOC129934096
Single nucleotide variant
(synonymous variant +2 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
+2 more
GBenign/Likely benign
DGUOK, DGUOK-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
DGUOK
(P71A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GUncertain significance
DGUOK
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DGUOK, LOC129934096
(A2S)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DGUOK, DGUOK-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+4 more
GBenign
DGUOK
(Q170R +2 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
+4 more
GBenign/Likely benign
DGUOK
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
+2 more
GBenign/Likely benign
DGUOK
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
DGUOK
(L96P)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
GLikely pathogenic
DGUOK, DGUOK-AS1
(D255Y +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
GPathogenic
DGUOK
(E227K +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GPathogenic
DGUOK
(R142K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
DGUOK
(Y204fs +2 more)
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
DGUOK, DGUOK-AS1
(F162* +4 more)
Duplication
(non-coding transcript variant +1 more)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
+2 more
GPathogenic/Likely pathogenic
DGUOK
(R105* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
DGUOK
(A86fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
Format
Items per page
Sort by
Choose Destination