C0796173[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17361	NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)	COL2A1 (G1128S +1 more)	Single nucleotide variant (missense variant)	Namaqualand hip dysplasia +7 more	GPathogenic/Likely pathogenic
Select item 286275	NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)	COL2A1 (G1104E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 17366	NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)	COL2A1 (R920C +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia +14 more	GPathogenic/Likely pathogenic
Select item 1068151	NM_001844.5(COL2A1):c.2788G>A (p.Gly930Ser)	COL2A1 (G861S +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia +1 more	GLikely pathogenic
Select item 1333272	NM_001844.5(COL2A1):c.754G>A (p.Gly252Ser)	COL2A1 (G183S +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia	GUncertain significance
Select item 1705640	NM_001844.5(COL2A1):c.626G>A (p.Arg209Gln)	COL2A1 (R140Q +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia +1 more	GUncertain significance

ClinVar