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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL11A2
(R1667H +2 more)
Single nucleotide variant
(missense variant)
Stickler Syndrome, Dominant
+7 more
GConflicting classifications of pathogenicity
COL11A2
(D1410G +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance