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Links from MedGen

Items: 1 to 100 of 911

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITGA2B
Deletion
Glanzmann thrombasthenia
GPathogenic
ITGB3
(S188L)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GLikely pathogenic
ITGB3
(S471I)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(A4T)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(C161fs)
Deletion
(frameshift variant)
Glanzmann thrombasthenia
GPathogenic
ITGA2B
(V552fs)
Deletion
(frameshift variant)
Glanzmann thrombasthenia
GPathogenic
ITGB3
(C483Y)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GLikely pathogenic
ITGA2B
(Q475*)
Single nucleotide variant
(nonsense)
Glanzmann thrombasthenia
GPathogenic
ITGA2B
(G418C)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
EFCAB13-DT, ITGB3
(W741*)
Single nucleotide variant
(nonsense)
Glanzmann thrombasthenia
GPathogenic
ITGA2B
(P943L)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GLikely pathogenic
ITGB3
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GPathogenic
ITGB3
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GPathogenic
ITGB3
(L143S)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GLikely pathogenic
ITGA2B
(F202C)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GPathogenic
ITGA2B
(I892fs)
Deletion
(frameshift variant)
Glanzmann thrombasthenia
GPathogenic
ITGA2B
Deletion
(splice acceptor variant)
Glanzmann thrombasthenia
GPathogenic
ITGA2B
(Y197*)
Single nucleotide variant
(nonsense)
Glanzmann thrombasthenia
GLikely pathogenic
ITGB3
(Y695*)
Single nucleotide variant
(nonsense)
Glanzmann thrombasthenia
GLikely pathogenic
ITGA2B
Single nucleotide variant
(splice acceptor variant)
Glanzmann thrombasthenia
GLikely pathogenic
ITGA2B
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
(A31T)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(P809L)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Deletion
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
(A70V)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
Duplication
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
(L598P)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
(S764K)
Indel
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
Deletion
(intron variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(Q837R)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
(E148D)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B, LOC130060983
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
(N670K)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
+1 more
GUncertain significance
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(V213M)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
(A229T)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
(R799T)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(D667N)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GBenign
ITGA2B
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
(G169S)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(D404Y)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(R977Q)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(N864K)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(I405S)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(G296E)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(M734K)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Deletion
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
(G219S)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(R386*)
Single nucleotide variant
(nonsense)
Glanzmann thrombasthenia
GPathogenic
ITGA2B
(Q49L)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B, LOC130060983
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(P685T)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(L654F)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
(G783R)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(V1021F)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(T525I)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(V779A)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(C916Y)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
(K726del)
Microsatellite
(inframe_deletion)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(E586K)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(Q165H)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
+1 more
GUncertain significance
ITGA2B
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GLikely benign
ITGA2B
(A793T)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(V771M)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
Single nucleotide variant
(synonymous variant)
Glanzmann thrombasthenia
GLikely benign
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