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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL2A1
(G1128S +1 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+7 more
GPathogenic/Likely pathogenic
COL2A1
(G288fs +1 more)
Duplication
(frameshift variant)
Stickler syndrome type 1
GLikely pathogenic