U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MED12L, P2RY12
(K174E)
Single nucleotide variant
(missense variant +1 more)
Abnormal platelet function
GLikely pathogenic
ACTN1
(N756S)
Single nucleotide variant
(missense variant)
Abnormal platelet function
GUncertain significance
ITGA2B
Single nucleotide variant
(splice donor variant)
Glanzmann thrombasthenia
GPathogenic
RUNX1, RUNX1-AS1
(R162G +1 more)
Single nucleotide variant
(missense variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GPathogenic
MYH9
(D1424G)
Single nucleotide variant
(missense variant)
MYH9-related disorder
+10 more
GLikely pathogenic
Format
Sort by
Choose Destination