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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GP1BA
(R36G)
Single nucleotide variant
(missense variant)
Bernard-Soulier syndrome, type A2, autosomal dominant
+5 more
GBenign/Likely benign
GP1BA
(S441fs)
Deletion
(frameshift variant)
Pseudo von Willebrand disease
+5 more
GBenign/Likely benign
GP1BA, LOC130060044
(Q587H)
Single nucleotide variant
(missense variant)
Pseudo von Willebrand disease
+4 more
GUncertain significance
LOC130060044, GP1BA
(N616fs)
Deletion
(frameshift variant)
GP1BA-related condition
+6 more
GUncertain significance
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