"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 975885	NM_001369268.1(ACAN):c.130G>A (p.Gly44Arg)	ACAN (G44R)	Single nucleotide variant (missense variant)	Osteochondritis dissecans	GUncertain significance
Select item 976161	NM_001369268.1(ACAN):c.221dup (p.Trp75fs)	ACAN (W75fs)	Duplication (frameshift variant)	Osteochondritis dissecans	GLikely pathogenic
Select item 975931	NM_001369268.1(ACAN):c.262G>A (p.Val88Met)	ACAN (V88M)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia, Kimberley type	GUncertain significance
Select item 976069	NM_001369268.1(ACAN):c.962A>G (p.Asn321Ser)	ACAN (N321S)	Single nucleotide variant (missense variant)	Osteochondritis dissecans	GUncertain significance
Select item 873431	NM_001369268.1(ACAN):c.1955C>T (p.Thr652Met)	ACAN (T652M)	Single nucleotide variant (missense variant)	Osteochondritis dissecans +2 more	GUncertain significance
Select item 976016	NM_001369268.1(ACAN):c.2153C>A (p.Thr718Lys)	ACAN (T718K)	Single nucleotide variant (missense variant)	Osteochondritis dissecans	GUncertain significance
Select item 975866	NM_001369268.1(ACAN):c.7327C>A (p.Gln2443Lys)	ACAN (Q2367K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic

ClinVar