"Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aac - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679113	NM_001369268.1(ACAN):c.91G>T (p.Val31Phe)	ACAN (V31F)	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 2628371	NM_001369268.1(ACAN):c.6828dup (p.Ala2277fs)	ACAN (A2277fs)	Duplication (frameshift variant)	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	GLikely pathogenic

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