"MGZ Medical Genetics Center"[submitter] AND "ACAN"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709955	NM_001369268.1(ACAN):c.919G>A (p.Val307Met)	ACAN (V307M)	Single nucleotide variant (missense variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GUncertain significance
Select item 1709437	NM_001369268.1(ACAN):c.5858del (p.Glu1953fs)	ACAN (E1953fs)	Deletion (frameshift variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic

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