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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL2A1
Deletion
(splice donor variant)
Stickler syndrome type 1
GLikely pathogenic
COL2A1
(K679* +1 more)
Single nucleotide variant
(nonsense)
Stickler syndrome type 1
GPathogenic