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Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WNT1
(L86fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type 15
GPathogenic
WNT1
(H111fs)
Duplication
(frameshift variant)
Osteogenesis imperfecta type 15
GLikely pathogenic
WNT1
(F298C)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 15
GLikely pathogenic
WNT1
(H287fs)
Duplication
(frameshift variant)
Osteogenesis imperfecta type 15
GLikely pathogenic
WNT1
(C170fs)
Duplication
(frameshift variant)
Osteogenesis imperfecta
+2 more
GPathogenic
GBE1
(A615P)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 15
GLikely pathogenic
WNT1
(G206D)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 15
GLikely pathogenic
WNT1
(H354fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type 15
GUncertain significance
WNT1
(R364G)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 15
GUncertain significance
WNT1
Deletion
(intron variant)
Osteogenesis imperfecta type 15
GLikely pathogenic
WNT1
(S88R)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
WNT1
(E343fs)
Deletion
(frameshift variant)
not provided
GPathogenic
WNT1
(V355F)
Single nucleotide variant
(missense variant)
Keratoconus
+1 more
GConflicting classifications of pathogenicity
WNT1
(S317fs)
Duplication
(frameshift variant)
Osteogenesis imperfecta type 15
GPathogenic
WNT1
(S295*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+1 more
GPathogenic
WNT1
(E189*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type 15
GPathogenic
WNT1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 15
GPathogenic
WNT1
(H287fs)
Duplication
(frameshift variant)
Osteogenesis imperfecta type 15
+1 more
GPathogenic; risk factor
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