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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTSL2
(G421S)
Single nucleotide variant
(missense variant)
Connective tissue dysplasia
+3 more
GConflicting classifications of pathogenicity
ADAMTSL2
(C749R)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia 1
GUncertain significance