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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GP1BA
(P69L)
Single nucleotide variant
(missense variant)
Bernard-Soulier syndrome, type A2, autosomal dominant
+1 more
GUncertain significance
GP1BA
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign