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Items: 82

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRP5
Deletion
(5 prime UTR variant)
not provided
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
(P5L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
(P6T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+2 more
GBenign/Likely benign
LRP5
Microsatellite
(5 prime UTR variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
LRP5
Microsatellite
(5 prime UTR variant +1 more)
not specified
+2 more
GBenign
LRP5
Microsatellite
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LRP5
Microsatellite
(5 prime UTR variant +1 more)
not specified
+3 more
GBenign/Likely benign
LRP5
(L20del)
Microsatellite
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LRP5
(L62fs)
Deletion
(5 prime UTR variant +1 more)
not provided
GPathogenic
LRP5
(K88R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity
LRP5
(Q89R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GBenign
LRP5
(T95P)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
(V99M)
Single nucleotide variant
(5 prime UTR variant +1 more)
Worth disease
+8 more
GUncertain significance
LRP5
(N136T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Exudative vitreoretinopathy 4
+9 more
GUncertain significance
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
LRP5
(T238M)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LRP5
Microsatellite
(splice donor variant)
not provided
GLikely pathogenic
LRP5
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LRP5
(A400V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+10 more
GUncertain significance
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+10 more
GBenign/Likely benign
LRP5
Single nucleotide variant
(5 prime UTR variant +1 more)
Polycystic liver disease 4 with or without kidney cysts
+9 more
GBenign/Likely benign
LRP5
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LRP5
(V532L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+8 more
GUncertain significance
LRP5
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(synonymous variant)
Polycystic liver disease 4 with or without kidney cysts
+9 more
GBenign/Likely benign
LRP5
(P670L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(synonymous variant)
Autosomal dominant osteopetrosis 1
+10 more
GBenign/Likely benign
LRP5
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
LRP5
(R746W +1 more)
Single nucleotide variant
(missense variant)
Exudative vitreoretinopathy 1
+8 more
GUncertain significance
LRP5
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
LRP5
(G773S +1 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
LRP5
(I775T +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(synonymous variant)
Exudative vitreoretinopathy 1
+9 more
GBenign/Likely benign
LRP5
(M326fs +1 more)
Deletion
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
LRP5
(C332fs +1 more)
Duplication
(frameshift variant)
Autosomal dominant osteopetrosis 1
+8 more
GPathogenic
LRP5
(G927S +1 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
LRP5
Single nucleotide variant
(intron variant)
not provided
+9 more
GUncertain significance
LRP5
(Y984C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+10 more
GUncertain significance
LRP5
(R1036Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant osteopetrosis 1
+11 more
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LRP5
(M1086V +1 more)
Single nucleotide variant
(missense variant)
not specified
+10 more
GLikely benign
LRP5
(R1135C +1 more)
Single nucleotide variant
(missense variant)
LRP5-related condition
+9 more
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
LRP5
(G1185R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(synonymous variant)
not specified
+10 more
GBenign/Likely benign
LRP5
(A1330V +1 more)
Single nucleotide variant
(missense variant)
Increased bone mineral density
+4 more
GBenign
LRP5
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
LRP5
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
LRP5
(V1399I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
LRP5
(R1409C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LRP5
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(synonymous variant)
not specified
+9 more
GBenign/Likely benign
LRP5
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(synonymous variant)
Exudative vitreoretinopathy 4
+10 more
GBenign/Likely benign
LRP5
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
LRP5
(P1495L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRP5
(P1522L +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
LRP5
(A1525V +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
LRP5
(C1548F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LRP5
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LRP5
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
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