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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL2A1
(R785* +1 more)
Single nucleotide variant
(nonsense)
Stickler syndrome type 1
+1 more
GPathogenic
COL2A1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic