U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GP1BA, LOC130060044
(R592Q)
Single nucleotide variant
(missense variant)
Pseudo von Willebrand disease
+1 more
GUncertain significance
GP1BA
(L194F)
Single nucleotide variant
(missense variant)
Pseudo von Willebrand disease
GUncertain significance
GP1BA
(W246L)
Single nucleotide variant
(missense variant)
Pseudo von Willebrand disease
GPathogenic
GP1BA
(R127Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GP1BA
(G249D)
Single nucleotide variant
(missense variant)
Pseudo von Willebrand disease
GPathogenic
GP1BA
(D265Y)
Single nucleotide variant
(missense variant)
Pseudo von Willebrand disease
GPathogenic
GP1BA
Deletion
(inframe_indel)
Pseudo von Willebrand disease
GPathogenic
GP1BA, LOC130060044
(N616fs)
Deletion
(frameshift variant)
not specified
+6 more
GUncertain significance
GP1BA
(P395S)
Single nucleotide variant
(missense variant)
Pseudo von Willebrand disease
GUncertain significance
GP1BA, LOC130060044
(Q587H)
Single nucleotide variant
(missense variant)
Bernard Soulier syndrome
+4 more
GUncertain significance
GP1BA
(V31A)
Single nucleotide variant
(missense variant)
Pseudo von Willebrand disease
+2 more
Gnot provided
GP1BA
(S441fs)
Deletion
(frameshift variant)
Pseudo von Willebrand disease
+5 more
GBenign/Likely benign
GP1BA
(L86F)
Single nucleotide variant
(missense variant)
not specified
GBenign/Likely benign
GP1BA
(R36G)
Single nucleotide variant
(missense variant)
Nonarteritic anterior ischemic optic neuropathy, susceptibility to
+5 more
GBenign/Likely benign
GP1BA
(M255V)
Single nucleotide variant
(missense variant)
Pseudo von Willebrand disease
+3 more
GPathogenic/Likely pathogenic
GP1BA
(G249V)
Single nucleotide variant
(missense variant)
Pseudo von Willebrand disease
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination