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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GTPBP3
(W6*)
Single nucleotide variant
(nonsense +1 more)
See cases
+1 more
GPathogenic/Likely pathogenic
GTPBP3
(E210K +1 more)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic