"Baylor Genetics"[submitter] AND "ACAN"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1034407	NM_001369268.1(ACAN):c.1015G>A (p.Asp339Asn)	ACAN (D339N)	Single nucleotide variant (missense variant)	Osteochondritis dissecans +1 more	GUncertain significance
Select item 1027792	NM_001369268.1(ACAN):c.1575C>G (p.Asp525Glu)	ACAN (D525E)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, aggrecan type +1 more	GConflicting classifications of pathogenicity
Select item 1034408	NM_001369268.1(ACAN):c.5434G>A (p.Val1812Ile)	ACAN (V1812I)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, aggrecan type	GUncertain significance
Select item 287741	NM_001369268.1(ACAN):c.6113C>T (p.Thr2038Ile)	ACAN (T2038I)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, aggrecan type +1 more	GUncertain significance
Select item 1034409	NM_001369268.1(ACAN):c.6308C>T (p.Thr2103Met)	ACAN (T2103M)	Single nucleotide variant (missense variant)	Osteochondritis dissecans +1 more	GUncertain significance
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic

ClinVar