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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC108021846, SOX9
Deletion
(inframe_deletion)
Camptomelic dysplasia
GLikely pathogenic
SOX9
(P170S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic