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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCORL1
(R789C)
Single nucleotide variant
(missense variant)
Shukla-Vernon syndrome
GUncertain significance
BCORL1
(P1607S +1 more)
Single nucleotide variant
(missense variant)
Shukla-Vernon syndrome
GUncertain significance