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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC108021846, SOX9
(W115R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LOC108021846, SOX9
(R120L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity