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Items: 1 to 100 of 1250

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861920, LOC126861921
+3280 more
Copy number gain
See cases
GPathogenic
GSC, GSC-DT
+3275 more
Copy number gain
See cases
GPathogenic
ABCD4, ACOT1
+503 more
Copy number loss
See cases
GPathogenic
ABCD4, ACOT1
+299 more
Copy number loss
See cases
GLikely pathogenic
ESRRB, EVL
+1421 more
Copy number gain
See cases
GPathogenic
ABCD4, ACYP1
+227 more
Copy number loss
See cases
GPathogenic
LTBP2
Single nucleotide variant
not provided
GLikely benign
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+2 more
GConflicting classifications of pathogenicity
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+2 more
GBenign/Likely benign
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GConflicting classifications of pathogenicity
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+2 more
GBenign/Likely benign
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GBenign/Likely benign
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GBenign
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GBenign/Likely benign
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GBenign
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Primary congenital glaucoma
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
Duplication
(3 prime UTR variant)
Primary congenital glaucoma
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+1 more
GConflicting classifications of pathogenicity
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GConflicting classifications of pathogenicity
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+2 more
GBenign
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LTBP2
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
LTBP2
Duplication
(3 prime UTR variant)
Weill-Marchesani syndrome
+5 more
GUncertain significance
LTBP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LTBP2
(E1821D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LTBP2
(H1816fs)
Duplication
(frameshift variant)
Microspherophakia
GPathogenic
LTBP2
(P1814L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LTBP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LTBP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LTBP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LTBP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LTBP2
(P1806L)
Single nucleotide variant
(missense variant)
Glaucoma 3, primary infantile, B
+4 more
GUncertain significance
LTBP2
(C1804R)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome
+2 more
GUncertain significance
LTBP2
(R1801H)
Single nucleotide variant
(missense variant)
Glaucoma 3, primary congenital, D
+2 more
GConflicting classifications of pathogenicity
LTBP2
(E1794K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LTBP2
(C1793fs)
Deletion
(frameshift variant)
Glaucoma 3A
+1 more
GPathogenic
LTBP2
(V1789A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LTBP2
(V1789L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LTBP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LTBP2
(G1783R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LTBP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LTBP2
(L1781F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LTBP2
(D1779E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LTBP2
(N1776fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
LTBP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LTBP2
Single nucleotide variant
(intron variant)
not provided
GBenign
LTBP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LTBP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LTBP2
(A1771V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LTBP2
(A1767V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LTBP2
(D1766Y)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LTBP2
(Q1764K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LTBP2
Deletion
(inframe_deletion)
not provided
GPathogenic
LTBP2
(C1757F)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
LTBP2
(C1757R)
Single nucleotide variant
(missense variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LTBP2
(R1752W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LTBP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LTBP2
(N1745fs)
Deletion
(frameshift variant)
LTBP2-related condition
GLikely pathogenic
LTBP2
(R1747H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LTBP2
(R1747S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LTBP2
(N1745K)
Single nucleotide variant
(missense variant)
not provided
GBenign
LTBP2
(G1742S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LTBP2
(G1742R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LTBP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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