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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EXT1
(L490fs)
Duplication
(frameshift variant)
Exostoses, multiple, type 1
+3 more
GPathogenic
EXT1
(C312*)
Single nucleotide variant
(nonsense)
Multiple congenital exostosis
GLikely pathogenic