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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
P2RY12, MED12L
(R265P)
Single nucleotide variant
(missense variant +1 more)
Impaired ADP-induced platelet aggregation
+1 more
GPathogenic/Likely pathogenic
MED12L, P2RY12
(I200M)
Single nucleotide variant
(missense variant +1 more)
Impaired ADP-induced platelet aggregation
GUncertain significance
MED12L, P2RY12
(C175Y)
Single nucleotide variant
(missense variant +1 more)
Impaired ADP-induced platelet aggregation
GUncertain significance
MED12L, P2RY12
(K174E)
Single nucleotide variant
(missense variant +1 more)
Abnormal platelet function
GLikely pathogenic
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