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Links from MedGen

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB11
(A523G)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis
+1 more
GLikely pathogenic
GP1BA
Deletion
(inframe_deletion)
Bernard-Soulier syndrome, type A2, autosomal dominant
GUncertain significance
GP1BA
(V31E)
Single nucleotide variant
(missense variant)
Bernard-Soulier syndrome, type A2, autosomal dominant
+1 more
GUncertain significance
GP1BA
(F232I)
Single nucleotide variant
(missense variant)
Bernard-Soulier syndrome, type A2, autosomal dominant
GUncertain significance
GP1BA
(L213P)
Single nucleotide variant
(missense variant)
Bernard-Soulier syndrome, type A2, autosomal dominant
GUncertain significance
GP1BA
(G112R)
Single nucleotide variant
(missense variant)
Bernard-Soulier syndrome, type A2, autosomal dominant
GUncertain significance
GP1BA
(I370V)
Single nucleotide variant
(missense variant)
Bernard-Soulier syndrome, type A2, autosomal dominant
GUncertain significance
GP1BA
(N174D)
Single nucleotide variant
(missense variant)
Bernard-Soulier syndrome, type A2, autosomal dominant
GUncertain significance
GP1BA
(T494fs)
Deletion
(frameshift variant)
Bernard-Soulier syndrome, type A2, autosomal dominant
GLikely pathogenic
GP1BA
(C33Y)
Single nucleotide variant
(missense variant)
Bernard-Soulier syndrome, type A2, autosomal dominant
GLikely pathogenic
GP1BA
(L145P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
GP1BA
(L64P)
Single nucleotide variant
(missense variant)
Bernard-Soulier syndrome, type A2, autosomal dominant
GUncertain significance
GP1BA
(P46L)
Single nucleotide variant
(missense variant)
Bernard-Soulier syndrome, type A2, autosomal dominant
+1 more
GConflicting classifications of pathogenicity
GP1BA
(L83F)
Single nucleotide variant
(missense variant)
Bernard-Soulier syndrome, type A2, autosomal dominant
GLikely pathogenic
GP1BA
(L155V)
Single nucleotide variant
(missense variant)
Bernard-Soulier syndrome, type A2, autosomal dominant
+1 more
GUncertain significance
GP1BA
(C20G)
Single nucleotide variant
(missense variant)
Bernard-Soulier syndrome, type A2, autosomal dominant
+1 more
GPathogenic
GP1BA
(N57D)
Single nucleotide variant
(missense variant)
Bernard-Soulier syndrome, type A2, autosomal dominant
+1 more
GLikely pathogenic
GP1BA, LOC130060044
(N616fs)
Deletion
(frameshift variant)
Bernard Soulier syndrome
+6 more
GUncertain significance
GP1BA
(P69L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GP1BA
(E425fs)
Deletion
(frameshift variant)
Bernard-Soulier syndrome, type A2, autosomal dominant
GPathogenic
GP1BA
(Y534fs)
Deletion
(frameshift variant)
Bernard Soulier syndrome
+3 more
GPathogenic/Likely pathogenic
LOC130060044, GP1BA
(Q587H)
Single nucleotide variant
(missense variant)
Nonarteritic anterior ischemic optic neuropathy, susceptibility to
+4 more
GUncertain significance
GP1BA
(N150S)
Single nucleotide variant
(missense variant)
Thrombocytopenia
+2 more
GLikely pathogenic
GP1BA
(L115P)
Single nucleotide variant
(missense variant)
Thrombocytopenia
+1 more
GPathogenic/Likely pathogenic
GP1BA
(V31A)
Single nucleotide variant
(missense variant)
Pseudo von Willebrand disease
+2 more
Gnot provided
GP1BA
(C225S)
Single nucleotide variant
(missense variant)
Bernard-Soulier syndrome, type A1
+3 more
GPathogenic/Likely pathogenic
GP1BA
(S441fs)
Deletion
(frameshift variant)
Pseudo von Willebrand disease
+5 more
GBenign/Likely benign
GP1BA
(L86F)
Single nucleotide variant
(missense variant)
GP1BA-related disorder
+1 more
GBenign/Likely benign
GP1BA
(R36G)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
GP1BA
(A172V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GP1BA
(L73F)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia
GLikely pathogenic
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