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Links from MedGen

Items: 1 to 100 of 290

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRP5
Single nucleotide variant
(splice acceptor variant)
Osteoporosis with pseudoglioma
GLikely pathogenic
LRP5
(I176N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Osteoporosis with pseudoglioma
GUncertain significance
LRP5
(M210V +1 more)
Single nucleotide variant
(missense variant)
Osteoporosis with pseudoglioma
GLikely pathogenic
LRP5
(C263R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Osteoporosis with pseudoglioma
GUncertain significance
LRP5
(R494W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(intron variant)
Bone mineral density quantitative trait locus 1
+8 more
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
Bone mineral density quantitative trait locus 1
+8 more
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
Exudative vitreoretinopathy 4
+8 more
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
Exudative vitreoretinopathy 4
+8 more
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
Bone mineral density quantitative trait locus 1
+8 more
GLikely benign
LRP5
Single nucleotide variant
(synonymous variant)
Exudative vitreoretinopathy 1
+8 more
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
Osteoporosis
+8 more
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
Osteoporosis
+8 more
GBenign/Likely benign
LRP5
Single nucleotide variant
(synonymous variant)
not provided
+8 more
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
not provided
+8 more
GLikely benign
LRP5
Single nucleotide variant
(synonymous variant)
Exudative vitreoretinopathy 4
+8 more
GLikely benign
LRP5
Duplication
(intron variant)
not provided
+8 more
GLikely benign
LRP5
Single nucleotide variant
(synonymous variant)
Osteoporosis
+8 more
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
Bone mineral density quantitative trait locus 1
+8 more
GBenign/Likely benign
LRP5
Single nucleotide variant
(synonymous variant)
Exudative vitreoretinopathy 4
+8 more
GLikely benign
LRP5
Microsatellite
(intron variant)
Exudative vitreoretinopathy 4
+8 more
GLikely benign
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
Bone mineral density quantitative trait locus 1
+8 more
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
Bone mineral density quantitative trait locus 1
+8 more
GLikely benign
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+8 more
GLikely benign
LRP5
(W504*)
Single nucleotide variant
(nonsense +1 more)
Osteoporosis with pseudoglioma
GPathogenic
LRP5
(V1074I +1 more)
Single nucleotide variant
(missense variant)
Osteoporosis with pseudoglioma
+8 more
GUncertain significance
LRP5
(K74E)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bone mineral density quantitative trait locus 1
+8 more
GUncertain significance
LRP5
(R1036L +1 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
LRP5
Single nucleotide variant
(intron variant)
not provided
+8 more
GUncertain significance
LRP5
Single nucleotide variant
(synonymous variant)
not provided
+8 more
GConflicting classifications of pathogenicity
LRP5
(R1556H +1 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
LRP5
(M819T +1 more)
Single nucleotide variant
(missense variant)
Bone mineral density quantitative trait locus 1
+8 more
GUncertain significance
LRP5
(Y559H)
Single nucleotide variant
(5 prime UTR variant +1 more)
Osteoporosis
+8 more
GUncertain significance
LRP5
(G269S +1 more)
Single nucleotide variant
(missense variant)
Exudative vitreoretinopathy 1
+9 more
GUncertain significance
LRP5
(D1379N +1 more)
Single nucleotide variant
(missense variant)
Osteoporosis with pseudoglioma
+8 more
GUncertain significance
LRP5
(I811V +1 more)
Single nucleotide variant
(missense variant)
Exudative vitreoretinopathy 1
+8 more
GUncertain significance
LRP5
(L12Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+8 more
GUncertain significance
LRP5
(P1574A +1 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
LRP5
(G923S +1 more)
Single nucleotide variant
(missense variant)
Bone mineral density quantitative trait locus 1
+8 more
GUncertain significance
LRP5
(I1136T +1 more)
Single nucleotide variant
(missense variant)
Bone mineral density quantitative trait locus 1
+8 more
GUncertain significance
LRP5
(A48G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bone mineral density quantitative trait locus 1
+8 more
GUncertain significance
LRP5
(G1442S +1 more)
Single nucleotide variant
(missense variant)
Exudative vitreoretinopathy 4
+8 more
GUncertain significance
LRP5
(N531S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bone mineral density quantitative trait locus 1
+8 more
GUncertain significance
LRP5
(P1440L +1 more)
Single nucleotide variant
(missense variant)
Bone mineral density quantitative trait locus 1
+8 more
GUncertain significance
LRP5
(T299N +1 more)
Single nucleotide variant
(missense variant)
Bone mineral density quantitative trait locus 1
+8 more
GUncertain significance
LRP5
Single nucleotide variant
(intron variant)
Polycystic liver disease 4 with or without kidney cysts
+8 more
GUncertain significance
LRP5
(G50R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal dominant osteopetrosis 1
+9 more
GUncertain significance
LRP5
(S901L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant osteopetrosis 1
+8 more
GUncertain significance
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+8 more
GConflicting classifications of pathogenicity
LRP5
(V712M +1 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
LRP5
(G247R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bone mineral density quantitative trait locus 1
+8 more
GUncertain significance
LRP5
(R236C +1 more)
Single nucleotide variant
(missense variant)
Polycystic liver disease 4 with or without kidney cysts
+8 more
GUncertain significance
LRP5
(R761P +1 more)
Single nucleotide variant
(missense variant)
Bone mineral density quantitative trait locus 1
+8 more
GConflicting classifications of pathogenicity
LRP5
(A1076V +1 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
LRP5
(V1245M +1 more)
Single nucleotide variant
(missense variant)
Osteoporosis with pseudoglioma
+8 more
GUncertain significance
LRP5
(E1104K +1 more)
Single nucleotide variant
(missense variant)
Osteoporosis with pseudoglioma
+8 more
GUncertain significance
LRP5
(S356L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LRP5
(P1539L +1 more)
Single nucleotide variant
(missense variant)
Bone mineral density quantitative trait locus 1
+8 more
GUncertain significance
LRP5
(R186W)
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal dominant osteopetrosis 1
+8 more
GUncertain significance
LRP5
Microsatellite
(5 prime UTR variant +1 more)
Autosomal dominant osteopetrosis 1
+8 more
GUncertain significance
LRP5
(P1261L +1 more)
Single nucleotide variant
(missense variant)
Bone mineral density quantitative trait locus 1
+8 more
GUncertain significance
LRP5
(A1005V +1 more)
Single nucleotide variant
(missense variant)
Bone mineral density quantitative trait locus 1
+8 more
GUncertain significance
LRP5
(Y1426C +1 more)
Single nucleotide variant
(missense variant)
Bone mineral density quantitative trait locus 1
+8 more
GUncertain significance
LRP5
(R899C +1 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
LRP5
(R1063C +1 more)
Single nucleotide variant
(missense variant)
Exudative vitreoretinopathy 1
+8 more
GUncertain significance
LRP5
(T359M)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bone mineral density quantitative trait locus 1
+8 more
GUncertain significance
LRP5
(S192L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bone mineral density quantitative trait locus 1
+8 more
GUncertain significance
LRP5
Single nucleotide variant
(intron variant)
Bone mineral density quantitative trait locus 1
+8 more
GConflicting classifications of pathogenicity
LRP5
(N446S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Exudative vitreoretinopathy 4
+8 more
GUncertain significance
LRP5
(P1261R +1 more)
Single nucleotide variant
(missense variant)
Exudative vitreoretinopathy 1
+8 more
GUncertain significance
LRP5
Single nucleotide variant
(intron variant)
Worth disease
+8 more
GUncertain significance
LRP5
(R1219H +1 more)
Single nucleotide variant
(missense variant)
Exudative vitreoretinopathy 1
+8 more
GUncertain significance
LRP5
(R1078Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
LRP5
(R554H +1 more)
Single nucleotide variant
(missense variant)
Bone mineral density quantitative trait locus 1
+8 more
GUncertain significance
LRP5
Single nucleotide variant
(intron variant)
Autosomal dominant osteopetrosis 1
+5 more
Gnot provided
LRP5
(V1433L +1 more)
Single nucleotide variant
(missense variant)
Exudative vitreoretinopathy 4
+8 more
GUncertain significance
LRP5
(R1103C +1 more)
Single nucleotide variant
(missense variant)
Worth disease
+8 more
GUncertain significance
LRP5
(R353Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Osteoporosis with pseudoglioma
+1 more
GPathogenic/Likely pathogenic
LRP5
(G1420R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant osteopetrosis 1
+8 more
GUncertain significance
LRP5
(T271M +1 more)
Single nucleotide variant
(missense variant)
Osteoporosis with pseudoglioma
+9 more
GPathogenic/Likely pathogenic
LRP5
Single nucleotide variant
(intron variant)
Bone mineral density quantitative trait locus 1
+8 more
GBenign
LRP5
Single nucleotide variant
(intron variant)
not provided
+8 more
GBenign/Likely benign
LRP5
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta
+9 more
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(synonymous variant)
Exudative vitreoretinopathy 4
+8 more
GBenign/Likely benign
LRP5
Single nucleotide variant
(intron variant)
Bone mineral density quantitative trait locus 1
+8 more
GBenign/Likely benign
LRP5
Single nucleotide variant
(intron variant)
Osteoporosis with pseudoglioma
+8 more
GBenign/Likely benign
LRP5
Single nucleotide variant
(synonymous variant)
Bone mineral density quantitative trait locus 1
+8 more
GLikely benign
LRP5
Single nucleotide variant
(synonymous variant)
Osteoporosis with pseudoglioma
+8 more
GLikely benign
LRP5
Microsatellite
(intron variant)
Bone mineral density quantitative trait locus 1
+8 more
GLikely benign
LRP5
Single nucleotide variant
(synonymous variant)
not provided
+8 more
GLikely benign
LRP5
Single nucleotide variant
(synonymous variant +1 more)
Bone mineral density quantitative trait locus 1
+8 more
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
Autosomal dominant osteopetrosis 1
+8 more
GLikely benign
LRP5
Single nucleotide variant
(synonymous variant)
Bone mineral density quantitative trait locus 1
+8 more
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
Autosomal dominant osteopetrosis 1
+8 more
GLikely benign
LRP5
Single nucleotide variant
(synonymous variant)
Bone mineral density quantitative trait locus 1
+8 more
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
Bone mineral density quantitative trait locus 1
+8 more
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
Bone mineral density quantitative trait locus 1
+8 more
GLikely benign
LRP5
Single nucleotide variant
(synonymous variant)
Polycystic liver disease 4 with or without kidney cysts
+8 more
GLikely benign
LRP5
Single nucleotide variant
(synonymous variant)
Exudative vitreoretinopathy 4
+8 more
GLikely benign
LRP5
Single nucleotide variant
(intron variant)
not provided
+8 more
GLikely benign
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