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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GP1BA
(C225R)
Single nucleotide variant
(missense variant)
Bernard Soulier syndrome
+1 more
GUncertain significance
GP1BB, SEPT5-GP1BB
(P72L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GUncertain significance