"Clinical Genetics, Academic Medical Center"[submitter] AND "COL9A2"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 508779	NM_001852.4(COL9A2):c.1962G>T (p.Leu654=)	COL9A2	Single nucleotide variant (synonymous variant)	COL9A2-related disorder +1 more	GLikely benign
Select item 1167800	NM_001852.4(COL9A2):c.1604-26CTCC[7]	COL9A2	Microsatellite (intron variant)	not provided +3 more	GBenign
Select item 507612	NM_001852.4(COL9A2):c.562C>A (p.Leu188Met)	COL9A2 (L188M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 258391	NM_001852.4(COL9A2):c.544A>G (p.Met182Val)	COL9A2 (M182V)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +4 more	GBenign
Select item 297311	NM_001852.4(COL9A2):c.250-7T>C	COL9A2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 740959	NM_001852.4(COL9A2):c.151-8T>C	COL9A2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 195153	NM_001852.4(COL9A2):c.95G>A (p.Arg32Gln)	COL9A2, LOC129930261 (R32Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 193217	NM_001852.4(COL9A2):c.31C>T (p.Leu11Phe)	COL9A2 (L11F)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign

ClinVar