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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTSL2
(R113H)
Single nucleotide variant
(missense variant)
Lethal short-limb skeletal dysplasia, Al Gazali type
GLikely pathogenic
ADAMTSL2
(E114K)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia 1
+1 more
GConflicting classifications of pathogenicity
ADAMTSL2
(P147L)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia 1
GPathogenic
ADAMTSL2
(G811R)
Single nucleotide variant
(missense variant)
Geleophysic dysplasia 1
GPathogenic
ADAMTSL2
(W862*)
Single nucleotide variant
(nonsense)
Geleophysic dysplasia 1
GPathogenic
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