"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LOC1268630 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 546902	NM_001853.4(COL9A3):c.1378G>A (p.Gly460Ser)	COL9A3, LOC126863084 (G460S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258409	NM_001853.4(COL9A3):c.1427C>G (p.Pro476Arg)	COL9A3, LOC126863084 (P476R)	Single nucleotide variant (missense variant)	not provided +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 1170248	NM_001853.4(COL9A3):c.1548+4C>T	COL9A3, LOC126863084	Single nucleotide variant (intron variant)	not provided	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 1298873	NM_001853.4(COL9A3):c.1563C>T (p.Ser521=)	COL9A3, LOC126863084	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity

ClinVar