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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRP4, LRP4-AS1
(S1887C)
Single nucleotide variant
(missense variant)
LRP4-related condition
+4 more
GConflicting classifications of pathogenicity
LRP4, LRP4-AS1
(R1830Q)
Single nucleotide variant
(missense variant)
Sclerosteosis 2
+3 more
GUncertain significance
LRP4, LRP4-AS1
(D1819V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRP4, LRP4-AS1
(M1786K)
Single nucleotide variant
(missense variant)
LRP4-related condition
+5 more
GBenign/Likely benign
LRP4, LRP4-AS1
(I1728V)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 17
+4 more
GUncertain significance
LRP4, LRP4-AS1
(R1685Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
LRP4-AS1, LRP4
(A1454V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital myasthenic syndrome 17
+3 more
GConflicting classifications of pathogenicity
LRP4
(S1359T)
Single nucleotide variant
(missense variant)
Cenani-Lenz syndactyly syndrome
+3 more
GUncertain significance
LRP4
(R1327Q)
Single nucleotide variant
(missense variant)
LRP4-related condition
+4 more
GUncertain significance
LRP4
(S1315L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
LRP4
(N1207S)
Single nucleotide variant
(missense variant)
LRP4-related condition
+4 more
GConflicting classifications of pathogenicity
LRP4
(R1136Q)
Single nucleotide variant
(missense variant)
Cenani-Lenz syndactyly syndrome
+3 more
GUncertain significance
LRP4
(I1086V)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
LRP4
(N1022D)
Single nucleotide variant
(missense variant)
Sclerosteosis 2
+4 more
GConflicting classifications of pathogenicity
LRP4
Single nucleotide variant
(intron variant)
LRP4-related condition
+4 more
GConflicting classifications of pathogenicity
LRP4
Single nucleotide variant
(intron variant)
Cenani-Lenz syndactyly syndrome
+3 more
GLikely benign
LRP4
(H596R)
Single nucleotide variant
(missense variant)
Sclerosteosis 2
+3 more
GConflicting classifications of pathogenicity
LRP4
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 17
+4 more
GConflicting classifications of pathogenicity
LRP4
Single nucleotide variant
(synonymous variant)
Cenani-Lenz syndactyly syndrome
+5 more
GBenign/Likely benign
LRP4
Single nucleotide variant
(synonymous variant)
LRP4-related condition
+4 more
GConflicting classifications of pathogenicity
LRP4
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
LRP4
(G333R)
Single nucleotide variant
(missense variant)
Sclerosteosis 2
+4 more
GBenign/Likely benign
LRP4
(C319Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LRP4
(N303K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRP4
Single nucleotide variant
(synonymous variant)
Cenani-Lenz syndactyly syndrome
+3 more
GConflicting classifications of pathogenicity
LRP4
Single nucleotide variant
(synonymous variant)
LRP4-related condition
+4 more
GConflicting classifications of pathogenicity
LRP4
Deletion
(intron variant)
LRP4-related condition
+4 more
GLikely benign
LOC130005663, LRP4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
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