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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GP9
(W4fs)
Microsatellite
(frameshift variant +1 more)
Bernard Soulier syndrome
GPathogenic
GP9
(C24R)
Single nucleotide variant
(missense variant)
Bernard Soulier syndrome
+1 more
GPathogenic
GP9
(G42R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GP9
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
GP9
(F71S)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia
+2 more
GPathogenic
GP9
(T79I)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
GP9
(D81N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GP9
(Y95C)
Single nucleotide variant
(missense variant)
Bernard Soulier syndrome
+1 more
GConflicting classifications of pathogenicity
GP9
(P123L)
Single nucleotide variant
(missense variant)
Bernard Soulier syndrome
+2 more
GUncertain significance
GP9
(V157M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GP9
(V157A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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