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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTS2
(S1052A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+2 more
GConflicting classifications of pathogenicity
ADAMTS2
(R1047H)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
(G994S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADAMTS2
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
GUncertain significance
ADAMTS2
(R430W)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+2 more
GUncertain significance
ADAMTS2
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, dermatosparaxis type
+1 more
GConflicting classifications of pathogenicity
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