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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RABGAP1
(N338fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
RABGAP1
(P568T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RABGAP1
(G650S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RABGAP1
(L874P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
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