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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB3GAP2
(G1052C)
Single nucleotide variant
(missense variant)
Martsolf syndrome 1
GPathogenic
RAB3GAP2
(R426C)
Single nucleotide variant
(missense variant)
Martsolf syndrome
+1 more
GPathogenic/Likely pathogenic
RAB3GAP2
Deletion
(inframe_deletion)
Warburg micro syndrome 2
GPathogenic
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