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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL2A1
(L598F +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome, type I, nonsyndromic ocular
GPathogenic
COL2A1
(R584* +1 more)
Single nucleotide variant
(nonsense)
not provided
+14 more
GPathogenic