"Laboratory of Inherited Metabolic Diseases, Research centre for medic - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1683454	NM_001853.4(COL9A3):c.183+2T>C	COL9A3	Single nucleotide variant (splice donor variant)	Epiphyseal dysplasia, multiple, 3	GPathogenic
Select item 1683455	NM_001853.4(COL9A3):c.268C>T (p.Arg90Ter)	COL9A3 (R90*)	Single nucleotide variant (nonsense)	Stickler syndrome +1 more	GPathogenic
Select item 1683456	NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter)	COL9A3 (R577*)	Single nucleotide variant (nonsense)	Epiphyseal dysplasia, multiple, 3 +3 more	GPathogenic/Likely pathogenic

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