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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
+1 more
GConflicting classifications of pathogenicity
LOC108021846, SOX9
(K106E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC108021846, SOX9
(A119E)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
+1 more
GUncertain significance
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