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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAN
(S98fs)
Deletion
(frameshift variant)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
GLikely pathogenic
ACAN
Single nucleotide variant
(splice acceptor variant)
See cases
GLikely pathogenic
ACAN
(S2145F)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
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