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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRAT
(Y110C +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CRAT
(V569M +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A10
(P192S)
Single nucleotide variant
(synonymous variant +2 more)
Mitochondrial complex I deficiency
GLikely pathogenic
SLC25A10
(K102*)
Single nucleotide variant
(nonsense)
Mitochondrial complex I deficiency
+1 more
GLikely pathogenic
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