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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB3GAP2
Indel
(inframe_indel)
Martsolf syndrome
GPathogenic
RAB3GAP2
(S739G)
Single nucleotide variant
(missense variant)
Martsolf syndrome
+1 more
GUncertain significance
RAB3GAP2
(R426C)
Single nucleotide variant
(missense variant)
Warburg micro syndrome 2
+1 more
GPathogenic/Likely pathogenic
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