"Athena Diagnostics"[submitter] AND "COL9A1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258359	NM_001851.6(COL9A1):c.2470C>A (p.Pro824Thr)	COL9A1 (P824T +3 more)	Single nucleotide variant (missense variant +1 more)	Epiphyseal dysplasia, multiple, 6 +4 more	GBenign/Likely benign
Select item 258358	NM_001851.6(COL9A1):c.2299A>G (p.Met767Val)	COL9A1 (M767V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 507610	NM_001851.6(COL9A1):c.1368C>T (p.Leu456=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 194938	NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly)	COL9A1 (E450G +1 more)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 489264	NM_001851.6(COL9A1):c.1120G>T (p.Glu374Ter)	COL9A1 (E374* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 258338	NM_001851.6(COL9A1):c.1071T>C (p.Arg357=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 258337	NM_001851.6(COL9A1):c.1066-3T>C	COL9A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 357811	NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu)	COL9A1 (P301L +1 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome, type 4 +4 more	GConflicting classifications of pathogenicity
Select item 391136	NM_001851.6(COL9A1):c.876+6T>C	COL9A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 967351	NM_001851.6(COL9A1):c.166+5G>A	COL9A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance