"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258408	NM_001853.4(COL9A3):c.1402-9C>T	COL9A3, LOC126863084	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 258409	NM_001853.4(COL9A3):c.1427C>G (p.Pro476Arg)	LOC126863084, COL9A3 (P476R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 339293	NM_001853.4(COL9A3):c.1449C>T (p.Asn483=)	COL9A3, LOC126863084	Single nucleotide variant (synonymous variant)	Connective tissue disorder +1 more	GBenign/Likely benign
Select item 258410	NM_001853.4(COL9A3):c.1476C>T (p.Pro492=)	COL9A3, LOC126863084	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 258414	NM_001853.4(COL9A3):c.1549-4C>A	COL9A3, LOC126863084	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 339296	NM_001853.4(COL9A3):c.1561A>G (p.Ser521Gly)	COL9A3, LOC126863084 (S521G)	Single nucleotide variant (missense variant)	Connective tissue disorder +1 more	GBenign/Likely benign

ClinVar