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Links from MedGen

Items: 1 to 100 of 404

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FZD4, PRSS23
(R247K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Exudative vitreoretinopathy 1
GLikely pathogenic
FZD4, PRSS23
(G492D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Exudative vitreoretinopathy 1
GUncertain significance
FZD4
(Y58C)
Single nucleotide variant
(missense variant)
Exudative vitreoretinopathy 1
GPathogenic
FZD4
(F82fs)
Indel
(frameshift variant)
Exudative vitreoretinopathy 1
GPathogenic
FZD4, PRSS23
(T425fs)
Deletion
(non-coding transcript variant +1 more)
Exudative vitreoretinopathy 1
GPathogenic
FZD4
(G68V)
Single nucleotide variant
(missense variant)
Exudative vitreoretinopathy 1
GUncertain significance
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
(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
(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
FZD4, PRSS23
(G336D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Exudative vitreoretinopathy 1
GUncertain significance
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
(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
LRP5
Single nucleotide variant
(intron variant)
Exudative vitreoretinopathy 4
+8 more
GLikely benign
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