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Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTS2
(R1182Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADAMTS2
(E1173fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
ADAMTS2
(N1150S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+1 more
GUncertain significance
ADAMTS2
(R1133W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADAMTS2
(V1102M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+1 more
GConflicting classifications of pathogenicity
ADAMTS2
(P1048L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS2
(G1010S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+1 more
GUncertain significance
ADAMTS2
(A956T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADAMTS2
(N949T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+1 more
GUncertain significance
ADAMTS2
(V940M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ADAMTS2
(T933A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+2 more
GUncertain significance
ADAMTS2
(R932W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADAMTS2
(C926R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS2
(K888R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS2
Microsatellite
(inframe insertion)
not provided
GUncertain significance
ADAMTS2
(D845del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GUncertain significance
ADAMTS2
(R803W)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+2 more
GUncertain significance
ADAMTS2
(A758T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+1 more
GUncertain significance
ADAMTS2
(I744V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+2 more
GUncertain significance
ADAMTS2
(A639T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS2
(G637S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+1 more
GUncertain significance
ADAMTS2
(E635K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ADAMTS2
(P593L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADAMTS2
(N590T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ADAMTS2
(A566T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+1 more
GUncertain significance
ADAMTS2
(G562S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+1 more
GUncertain significance
ADAMTS2
(A540V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+1 more
GUncertain significance
ADAMTS2
(R507Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADAMTS2
(R507W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADAMTS2
(T504M)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+2 more
GUncertain significance
ADAMTS2
(R430W)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+2 more
GUncertain significance
ADAMTS2
(R344C)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+1 more
GUncertain significance
ADAMTS2
(D264N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADAMTS2
(A242T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+2 more
GConflicting classifications of pathogenicity
ADAMTS2
(D237A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+3 more
GUncertain significance
ADAMTS2
(Q225*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ADAMTS2
(G223R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS2
(E188Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ADAMTS2
(R183W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADAMTS2
(R56H)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+2 more
GUncertain significance
ADAMTS2
Microsatellite
(inframe_insertion)
Ehlers-Danlos syndrome, dermatosparaxis type
+1 more
GUncertain significance
ADAMTS2
(A15V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS2
(P14S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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