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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
ABR, ALOX15
+115 more
Copy number gain
Chromosome 17P13.3, telomeric, duplication syndrome
GPathogenic