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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB3GAP1
(R347*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
RAB3GAP1
(T409I)
Single nucleotide variant
(missense variant)
Martsolf syndrome 2
+2 more
GUncertain significance
RAB3GAP1
Single nucleotide variant
(stop lost)
not provided
+3 more
GUncertain significance
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