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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SUCLG1
(V282I)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
+1 more
GUncertain significance
SUCLG1
(E264*)
Single nucleotide variant
(nonsense)
Mitochondrial DNA depletion syndrome 9
GLikely pathogenic
SUCLG1
(I183S)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
GUncertain significance
SUCLG1
(G79D)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SUCLG1
(M14V)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 9
+2 more
GUncertain significance
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