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Links from MedGen

Items: 1 to 100 of 557

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTS10
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ADAMTS10
(G163S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADAMTS10
(R169Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ADAMTS10
(E173K)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
(E173G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADAMTS10
(R43G +1 more)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(intron variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(5 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
(R186L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADAMTS10
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ADAMTS10
(R210W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADAMTS10
(P215L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADAMTS10
(R239H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADAMTS10
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ADAMTS10
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10, LOC130063441
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(5 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GLikely benign
ADAMTS10
Single nucleotide variant
(5 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(intron variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
ADAMTS10
Single nucleotide variant
(synonymous variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
(H49R)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
ADAMTS10
Single nucleotide variant
(synonymous variant)
Weill-Marchesani syndrome
+1 more
GConflicting classifications of pathogenicity
ADAMTS10
Single nucleotide variant
(synonymous variant)
Weill-Marchesani syndrome
+1 more
GConflicting classifications of pathogenicity
ADAMTS10
(N429D)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(intron variant)
Weill-Marchesani syndrome
+1 more
GConflicting classifications of pathogenicity
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GLikely benign
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+1 more
GBenign/Likely benign
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(synonymous variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(synonymous variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
(L112P)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(synonymous variant)
Weill-Marchesani syndrome
+1 more
GConflicting classifications of pathogenicity
ADAMTS10
Single nucleotide variant
(synonymous variant)
Weill-Marchesani syndrome
+1 more
GConflicting classifications of pathogenicity
ADAMTS10
(P17S)
Single nucleotide variant
(missense variant +1 more)
Weill-Marchesani syndrome
+1 more
GBenign/Likely benign
ADAMTS10
Single nucleotide variant
(intron variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(synonymous variant)
Weill-Marchesani syndrome
+1 more
GConflicting classifications of pathogenicity
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
ADAMTS10
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Stiff skin syndrome
+6 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+5 more
GUncertain significance
LTBP2
Single nucleotide variant
(synonymous variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Weill-Marchesani syndrome
+5 more
GUncertain significance
LTBP2
Single nucleotide variant
(synonymous variant)
Weill-Marchesani syndrome
+2 more
GConflicting classifications of pathogenicity
LTBP2
(A330V)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome
+2 more
GUncertain significance
LTBP2
(R538W)
Single nucleotide variant
(missense variant)
Glaucoma 3, primary congenital, D
+2 more
GUncertain significance
LTBP2
(R538Q)
Single nucleotide variant
(missense variant)
Glaucoma 3, primary congenital, D
+2 more
GUncertain significance
FBN1
(D1810Y)
Single nucleotide variant
(missense variant)
Stiff skin syndrome
+5 more
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Stiff skin syndrome
+5 more
GUncertain significance
LTBP2
(A733T)
Single nucleotide variant
(missense variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
(V776I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
LTBP2
Single nucleotide variant
(intron variant)
Weill-Marchesani syndrome
+1 more
GUncertain significance
LTBP2
(G1106R)
Single nucleotide variant
(missense variant)
Glaucoma 3, primary infantile, B
+4 more
GUncertain significance
LTBP2
(G1272D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LTBP2
(L1512R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LTBP2
(V1686I)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome
+2 more
GConflicting classifications of pathogenicity
LTBP2
(V1719M)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome
+2 more
GUncertain significance
LTBP2
Single nucleotide variant
(synonymous variant)
Glaucoma 3, primary congenital, D
+2 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(3 prime UTR variant)
Stiff skin syndrome
+5 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
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)
Glaucoma 3, primary congenital, D
+2 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)
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
GConflicting classifications of pathogenicity
FBN1
(R1075H)
Single nucleotide variant
(missense variant)
Marfan syndrome
+6 more
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Geleophysic dysplasia
+6 more
GConflicting classifications of pathogenicity
LTBP2
Single nucleotide variant
(5 prime UTR variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
LTBP2
(G161E)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome
+2 more
GUncertain significance
LTBP2
(P189S)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome
+2 more
GUncertain significance
LTBP2
(V190I)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome
+2 more
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Stiff skin syndrome
+5 more
GUncertain significance
LTBP2
(C400S)
Single nucleotide variant
(missense variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
FBN1
(D1810V)
Single nucleotide variant
(missense variant)
Stiff skin syndrome
+5 more
GUncertain significance
LTBP2
Single nucleotide variant
(intron variant)
Glaucoma 3, primary congenital, D
+5 more
GConflicting classifications of pathogenicity
LTBP2
(M817V)
Single nucleotide variant
(missense variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
FBN1
(E2097K)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome
+6 more
GUncertain significance
LTBP2
(G1171S)
Single nucleotide variant
(missense variant)
Glaucoma 3, primary congenital, D
+1 more
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Stiff skin syndrome
+5 more
GUncertain significance
FBN1
Single nucleotide variant
(3 prime UTR variant)
Stiff skin syndrome
+5 more
GUncertain significance
LTBP2
Single nucleotide variant
(synonymous variant)
Glaucoma 3, primary congenital, D
+2 more
GConflicting classifications of pathogenicity
LTBP2
(A1359T)
Single nucleotide variant
(missense variant)
Glaucoma 3, primary congenital, D
+2 more
GUncertain significance
LTBP2
Single nucleotide variant
(synonymous variant)
Glaucoma 3, primary congenital, D
+2 more
GConflicting classifications of pathogenicity
FBN1
(R2355K)
Single nucleotide variant
(missense variant)
Marfan syndrome
+10 more
GConflicting classifications of pathogenicity
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