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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPT2
(R10W +1 more)
Single nucleotide variant
(missense variant)
Glutamate pyruvate transaminase 2 deficiency
+1 more
GUncertain significance
GPT2
(K180R +1 more)
Single nucleotide variant
(missense variant)
Glutamate pyruvate transaminase 2 deficiency
GUncertain significance
GPT2
(L196F +1 more)
Single nucleotide variant
(missense variant)
Glutamate pyruvate transaminase 2 deficiency
GUncertain significance
GPT2
Deletion
(intron variant)
Glutamate pyruvate transaminase 2 deficiency
GUncertain significance
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