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Links from MedGen

Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTS10
(G450D +1 more)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 1
GUncertain significance
ADAMTS10
(G390R +1 more)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 1
GLikely benign
ADAMTS10
(R507Q)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 1
GUncertain significance
ADAMTS10
(V1028G +1 more)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 1
GLikely pathogenic
ADAMTS10
(E242fs)
Microsatellite
(frameshift variant)
Weill-Marchesani syndrome 1
GLikely pathogenic
ADAMTS10
(Y631* +1 more)
Single nucleotide variant
(missense variant +1 more)
Weill-Marchesani syndrome 1
GLikely pathogenic
ADAMTS10
(R483C +1 more)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 1
GLikely pathogenic
ADAMTS10
(R488S)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 1
GLikely pathogenic
ADAMTS10
(R233Q)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 1
GLikely pathogenic
ADAMTS10
(R394H +1 more)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 1
GLikely pathogenic
ADAMTS10
(N407D)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 1
GLikely pathogenic
ADAMTS10
(E393D)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 1
GLikely pathogenic
ADAMTS10
(S274R +1 more)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 1
GUncertain significance
ADAMTS10
Single nucleotide variant
(intron variant)
Weill-Marchesani syndrome 1
GUncertain significance
ADAMTS10
(G44A +1 more)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 1
GUncertain significance
ADAMTS10
(T45A)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 1
GUncertain significance
ADAMTS10
(R210Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADAMTS10
(G395R)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 1
+1 more
GConflicting classifications of pathogenicity
ADAMTS10
(T23M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
ADAMTS10
Single nucleotide variant
(intron variant)
Weill-Marchesani syndrome 1
GBenign
ADAMTS10
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ADAMTS10
(R1001H +1 more)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 1
GUncertain significance
ADAMTS10
(A365T +1 more)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 1
GUncertain significance
ADAMTS10
Single nucleotide variant
(intron variant)
ADAMTS10-related disorder
+3 more
GBenign/Likely benign
ADAMTS10
(P214R)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 1
GUncertain significance
ADAMTS10
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ADAMTS10
(A117V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ADAMTS10
(H1101Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
Weill-Marchesani syndrome 1
GPathogenic
ADAMTS10
Single nucleotide variant
(no sequence alteration)
Weill-Marchesani syndrome 1
+2 more
GBenign
ADAMTS10
(P18R)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
LTBP2
(V1177M)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 3
+1 more
GPathogenic
ADAMTS10
(G700C +1 more)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 1
GPathogenic
ADAMTS10
(G518D)
Single nucleotide variant
(missense variant)
Weill-Marchesani syndrome 1
GPathogenic
ADAMTS10
(Q318*)
Single nucleotide variant
(nonsense)
Weill-Marchesani syndrome 1
GPathogenic
ADAMTS10
(A25T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS10
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
ADAMTS10
Single nucleotide variant
(splice donor variant)
Weill-Marchesani syndrome 1
GPathogenic
ADAMTS10
(R237*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
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