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Links from MedGen

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITGB3
(L599fs)
Indel
(frameshift variant)
Glanzmann thrombasthenia 2
GLikely pathogenic
ITGB3
(C575R)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia 2
GPathogenic
ITGB3
Single nucleotide variant
(splice acceptor variant)
Glanzmann thrombasthenia 2
GPathogenic
ITGB3
(G27R)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia 2
GLikely pathogenic
ITGB3
(L20R)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGB3
(R659C)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia 2
GUncertain significance
ITGB3
(D677fs)
Deletion
(frameshift variant)
Glanzmann thrombasthenia
GPathogenic
ITGB3
(C568Y)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia 2
GUncertain significance
ITGB3
(N331S)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia 2
GUncertain significance
ITGB3
(E468*)
Single nucleotide variant
(nonsense)
Glanzmann thrombasthenia
GPathogenic
ITGB3, LOC130061043
(Y216C)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GLikely pathogenic
ITGB3
(M144R)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GPathogenic
ITGB3
(M150V)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GLikely pathogenic
ITGB3
(R487C)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGB3, LOC130061044
Single nucleotide variant
(splice donor variant)
Glanzmann thrombasthenia
GPathogenic
ITGB3
(G247D)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGB3, LOC130061045
(K279M)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGB3
(L143W)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GLikely pathogenic
ITGB3
(E642*)
Single nucleotide variant
(nonsense)
Glanzmann thrombasthenia
GPathogenic
EFCAB13-DT, ITGB3
(R750*)
Single nucleotide variant
(nonsense)
Glanzmann thrombasthenia
GPathogenic
ITGB3
Deletion
Glanzmann thrombasthenia 2
GPathogenic
ITGB3
(C400Y)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GLikely pathogenic
ITGB3
Single nucleotide variant
(splice donor variant)
Glanzmann thrombasthenia 2
GPathogenic
EFCAB13-DT, ITGB3
(S778P)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GUncertain significance
ITGB3
(R240W)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GLikely pathogenic
ITGB3
(D145Y)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GPathogenic
ITGB3
(R240Q)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GPathogenic
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