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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL18A1
(G718V +1 more)
Single nucleotide variant
(missense variant)
Knobloch syndrome
GLikely pathogenic
COL18A1
(G1072fs +2 more)
Duplication
(frameshift variant)
Knobloch syndrome 1
+2 more
GPathogenic