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Items: 1 to 100 of 1160

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130005622, LOC130005623
+224 more
Copy number loss
See cases
GPathogenic
ACCS, ACCSL
+264 more
Copy number loss
See cases
GPathogenic
ACCS, ACCSL
+258 more
Copy number loss
See cases
GPathogenic
ACCS, ACCSL
+254 more
Copy number gain
See cases
GLikely pathogenic
ACP2, AGBL2
+88 more
Copy number loss
See cases
GPathogenic
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GBenign
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GLikely benign
LRP4, LRP4-AS1
Duplication
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GBenign
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GLikely benign
LRP4, LRP4-AS1
Deletion
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GLikely benign
LRP4-AS1, LRP4
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GBenign
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GBenign
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Duplication
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GBenign
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GBenign
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GLikely benign
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Deletion
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GBenign
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
+1 more
GBenign/Likely benign
LRP4, LRP4-AS1
Single nucleotide variant
(3 prime UTR variant)
Cenani-Lenz syndactyly syndrome
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(synonymous variant)
Cenani-Lenz syndactyly syndrome
+2 more
GLikely benign
LRP4, LRP4-AS1
(S1900P)
Single nucleotide variant
(missense variant)
Sclerosteosis 2
+2 more
GUncertain significance
LRP4, LRP4-AS1
(W1893fs)
Deletion
(frameshift variant)
Cenani-Lenz syndactyly syndrome
+2 more
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(synonymous variant)
LRP4-related disorder
GLikely benign
LRP4, LRP4-AS1
(T1891M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LRP4, LRP4-AS1
(D1890G)
Single nucleotide variant
(missense variant)
Sclerosteosis 2
+2 more
GUncertain significance
LRP4, LRP4-AS1
(L1888fs)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
LRP4, LRP4-AS1
(S1887C)
Single nucleotide variant
(missense variant)
LRP4-related disorder
+4 more
GConflicting classifications of pathogenicity
LRP4, LRP4-AS1
(R1885Q)
Single nucleotide variant
(missense variant)
Cenani-Lenz syndactyly syndrome
+2 more
GUncertain significance
LRP4, LRP4-AS1
(R1885*)
Single nucleotide variant
(nonsense)
not specified
+3 more
GUncertain significance
LRP4, LRP4-AS1
(R1884G)
Single nucleotide variant
(missense variant)
Cenani-Lenz syndactyly syndrome
+2 more
GUncertain significance
LRP4, LRP4-AS1
(T1878I)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 17
+2 more
GUncertain significance
LRP4, LRP4-AS1
(V1876I)
Single nucleotide variant
(missense variant)
Sclerosteosis 2
+2 more
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(synonymous variant)
LRP4-related disorder
GLikely benign
LRP4, LRP4-AS1
(C1873Y)
Single nucleotide variant
(missense variant)
Cenani-Lenz syndactyly syndrome
+2 more
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(synonymous variant)
Cenani-Lenz syndactyly syndrome
+2 more
GLikely benign
LRP4, LRP4-AS1
Single nucleotide variant
(synonymous variant)
Sclerosteosis 2
+2 more
GLikely benign
LRP4, LRP4-AS1
(Q1870*)
Single nucleotide variant
(nonsense)
Cenani-Lenz syndactyly syndrome
+2 more
GUncertain significance
LRP4, LRP4-AS1
(E1869D)
Single nucleotide variant
(missense variant)
Cenani-Lenz syndactyly syndrome
+2 more
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(synonymous variant)
Sclerosteosis 2
+2 more
GLikely benign
LRP4, LRP4-AS1
Single nucleotide variant
(synonymous variant)
Sclerosteosis 2
+2 more
GLikely benign
LRP4, LRP4-AS1
(T1862M)
Single nucleotide variant
(missense variant)
Cenani-Lenz syndactyly syndrome
+2 more
GUncertain significance
LRP4, LRP4-AS1
(D1859E)
Single nucleotide variant
(missense variant)
Cenani-Lenz syndactyly syndrome
+2 more
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(synonymous variant)
Sclerosteosis 2
+2 more
GLikely benign
LRP4, LRP4-AS1
(S1853N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(synonymous variant)
Cenani-Lenz syndactyly syndrome
+2 more
GLikely benign
LRP4, LRP4-AS1
Single nucleotide variant
(synonymous variant)
Sclerosteosis 2
+2 more
GLikely benign
LRP4, LRP4-AS1
Single nucleotide variant
(synonymous variant)
Cenani-Lenz syndactyly syndrome
+2 more
GLikely benign
LRP4-AS1, LRP4
(T1847M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(synonymous variant)
Cenani-Lenz syndactyly syndrome
+2 more
GLikely benign
LRP4, LRP4-AS1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 17
+2 more
GLikely benign
LRP4, LRP4-AS1
(C1842R)
Single nucleotide variant
(missense variant)
Cenani-Lenz syndactyly syndrome
+2 more
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(synonymous variant)
Cenani-Lenz syndactyly syndrome
+3 more
GConflicting classifications of pathogenicity
LRP4, LRP4-AS1
(R1838L)
Single nucleotide variant
(missense variant)
Sclerosteosis 2
+2 more
GUncertain significance
LRP4-AS1, LRP4
(R1838Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
LRP4, LRP4-AS1
(R1838W)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 17
+2 more
GUncertain significance
LRP4-AS1, LRP4
(L1837P)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 17
+2 more
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 17
+3 more
GLikely benign
LRP4, LRP4-AS1
(L1836P)
Single nucleotide variant
(missense variant)
Sclerosteosis 2
+2 more
GUncertain significance
LRP4, LRP4-AS1
(L1836F)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 17
+2 more
GUncertain significance
LRP4, LRP4-AS1
(L1836V)
Single nucleotide variant
(missense variant)
Cenani-Lenz syndactyly syndrome
+2 more
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(synonymous variant)
Cenani-Lenz syndactyly syndrome
+2 more
GLikely benign
LRP4, LRP4-AS1
(L1836fs)
Duplication
(frameshift variant)
not provided
+3 more
GUncertain significance
LRP4, LRP4-AS1
(G1834R)
Single nucleotide variant
(missense variant)
Cenani-Lenz syndactyly syndrome
+2 more
GUncertain significance
LRP4-AS1, LRP4
Single nucleotide variant
(synonymous variant)
Cenani-Lenz syndactyly syndrome
+2 more
GLikely benign
LRP4, LRP4-AS1
(R1833L)
Single nucleotide variant
(missense variant)
Cenani-Lenz syndactyly syndrome
+2 more
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 17
+2 more
GLikely benign
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
(C1814Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRP4-AS1, LRP4
(C1814S)
Single nucleotide variant
(missense variant)
Sclerosteosis 2
+2 more
GUncertain significance
LRP4, LRP4-AS1
(I1813T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRP4, LRP4-AS1
(V1810I)
Single nucleotide variant
(missense variant)
Cenani-Lenz syndactyly syndrome
+2 more
GUncertain significance
LRP4, LRP4-AS1
(I1809N)
Single nucleotide variant
(missense variant)
Cenani-Lenz syndactyly syndrome
+2 more
GUncertain significance
LRP4, LRP4-AS1
Single nucleotide variant
(synonymous variant)
Cenani-Lenz syndactyly syndrome
+2 more
GLikely benign
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