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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB3GAP1
(T159fs)
Deletion
(frameshift variant)
not provided
GPathogenic
RAB3GAP1
(L205fs)
Deletion
(frameshift variant)
not provided
GPathogenic
RAB3GAP1
(P275S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RAB3GAP1
(L324fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
RAB3GAP1
(A538T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RAB3GAP1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
RAB3GAP1
(P782fs)
Deletion
(frameshift variant)
not provided
GPathogenic
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