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Items: 77

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCO2, LOC130067862
+1 more
(L478fs +1 more)
Duplication
(frameshift variant +1 more)
Mitochondrial DNA depletion syndrome 1
GPathogenic
SCO2, TYMP
+1 more
(S471* +1 more)
Single nucleotide variant
(nonsense +1 more)
Mitochondrial DNA depletion syndrome 1
GPathogenic
LOC130067862, SCO2
+1 more
(S471L +1 more)
Single nucleotide variant
(missense variant +1 more)
Fatal Infantile Cardioencephalomyopathy
+3 more
GBenign
LOC130067862, SCO2
+1 more
Deletion
(inframe_deletion +1 more)
Mitochondrial DNA depletion syndrome 1
GPathogenic
LOC130067862, SCO2
+1 more
(A454P +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 1
GPathogenic
LOC130067862, SCO2
+1 more
(Q451fs +1 more)
Duplication
(frameshift variant +1 more)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP, LOC130067862
+1 more
(D443fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
LOC130067862, SCO2
+1 more
(W437fs +1 more)
Deletion
(frameshift variant +1 more)
Mitochondrial DNA depletion syndrome 1
GPathogenic
LOC130067862, SCO2
+1 more
Single nucleotide variant
(intron variant +1 more)
Mitochondrial DNA depletion syndrome 1
GLikely pathogenic
LOC130067862, SCO2
+1 more
Single nucleotide variant
(intron variant +1 more)
Mitochondrial DNA depletion syndrome 1
GPathogenic
LOC130067862, SCO2
+1 more
Single nucleotide variant
(intron variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
LOC130067862, SCO2
+1 more
Single nucleotide variant
(synonymous variant +2 more)
not specified
+4 more
GBenign
LOC130067862, SCO2
+1 more
(G428S +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
TYMP, LOC130067862
+1 more
(G410fs +1 more)
Duplication
(frameshift variant +2 more)
Mitochondrial DNA depletion syndrome 1
GPathogenic
LOC130067862, SCO2
+1 more
Microsatellite
(inframe_deletion +2 more)
Mitochondrial DNA depletion syndrome 1
GLikely pathogenic
LOC130067862, SCO2
+1 more
(G387D +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LOC130067862, SCO2
+1 more
(G392S)
Single nucleotide variant
(missense variant +3 more)
Mitochondrial DNA depletion syndrome 1
+2 more
GPathogenic
LOC130067862, SCO2
+1 more
(G392R)
Single nucleotide variant
(missense variant +3 more)
Mitochondrial DNA depletion syndrome 1
GPathogenic
LOC130067862, SCO2
+1 more
Single nucleotide variant
(synonymous variant +3 more)
Mitochondrial DNA depletion syndrome 1
GPathogenic
LOC130067862, SCO2
+1 more
Single nucleotide variant
(synonymous variant +3 more)
Mitochondrial DNA depletion syndrome 1
GPathogenic
LOC130067862, SCO2
+1 more
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
SCO2, TYMP
+1 more
(A387T +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 1
GPathogenic
SCO2, LOC130067862
+1 more
(L371P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SCO2, TYMP
+1 more
(G363fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
SCO2, TYMP
+1 more
(L356P)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 1
GPathogenic
SCO2, TYMP
+1 more
(G337fs)
Indel
(frameshift variant +1 more)
Mitochondrial DNA depletion syndrome 1
GPathogenic
LOC130067862, SCO2
+1 more
Duplication
(inframe_insertion +1 more)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP, LOC130067862
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial DNA depletion syndrome 1
GBenign
LOC130067862, TYMP
(L313P)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
LOC130067862, TYMP
(G311C)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
LOC130067862, TYMP
(G311S)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
+1 more
GUncertain significance
LOC130067862, TYMP
(G311R)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
LOC130067862, SCO2
+1 more
Microsatellite
(intron variant)
Fatal Infantile Cardioencephalomyopathy
+4 more
GBenign/Likely benign
LOC130067862, TYMP
Single nucleotide variant
(splice donor variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
(G298D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
TYMP
(E289A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TYMP
(E289K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TYMP
(E286K)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
(L285P)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TYMP
(H283D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TYMP
Deletion
(nonsense)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
(T254P)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
(V241fs)
Deletion
(frameshift variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
(A239T)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
(F236S)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
(K222R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
TYMP
(V208G)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
(V208M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TYMP
(R202K)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
(R202T)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TYMP
(L177P)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
(M173R)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
Single nucleotide variant
(splice donor variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
(S160P)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
(D156G)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
(G153S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TYMP
(G145R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
TYMP
(A134E)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
(L133P)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
(D114N)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GLikely pathogenic
TYMP
(Q110*)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome 1
GPathogenic
LOC130067864, TYMP
(T92N)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
LOC130067864, TYMP
(T88fs)
Deletion
(frameshift variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP, LOC130067864
(E87D)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
LOC130067864, TYMP
(E87D)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
LOC130067864, TYMP
(M76I)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
+1 more
GUncertain significance
LOC130067864, TYMP
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
TYMP
(I54M)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
(L49R)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
(R44Q)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TYMP
(K43T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TYMP
(E38*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
TYMP
(K34fs)
Duplication
(frameshift variant)
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
Variation
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
Single nucleotide variant
Mitochondrial DNA depletion syndrome 1
GPathogenic
TYMP
Variation
Mitochondrial DNA depletion syndrome 1
GBenign
TYMP
Variation
Mitochondrial DNA depletion syndrome 1
GBenign
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