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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MED12L, P2RY12
(R265P)
Single nucleotide variant
(missense variant +1 more)
Platelet-type bleeding disorder 8
+1 more
GPathogenic/Likely pathogenic
MED12L, P2RY12
(R265W)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
MED12L, P2RY12
(R256Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MED12L, P2RY12
(R122H)
Single nucleotide variant
(missense variant +1 more)
not specified
GBenign
MED12L, P2RY12
(R122C)
Single nucleotide variant
(missense variant +1 more)
not specified
GBenign
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