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

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 197002	NM_001851.6(COL9A1):c.2562T>C (p.Pro854=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 1420675	NM_001851.6(COL9A1):c.2333C>T (p.Ala778Val)	COL9A1 (A535V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 166949	NM_001851.6(COL9A1):c.2271G>A (p.Pro757=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1535192	NM_001851.6(COL9A1):c.1946G>C (p.Gly649Ala)	COL9A1 (G406A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 849240	NM_001851.6(COL9A1):c.1939A>C (p.Ser647Arg)	COL9A1 (S404R +2 more)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +2 more	GUncertain significance
Select item 195813	NM_001851.6(COL9A1):c.1656T>C (p.Pro552=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1702382	NM_001851.6(COL9A1):c.1611G>A (p.Thr537=)	COL9A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GUncertain significance
Select item 161449	NM_001851.6(COL9A1):c.1519C>T (p.Arg507Ter)	COL9A1 (R507* +1 more)	Single nucleotide variant (nonsense +1 more)	Connective tissue disorder +1 more	GPathogenic
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 1702381	NM_001851.6(COL9A1):c.1143+4A>T	COL9A1	Single nucleotide variant (intron variant)	Connective tissue disorder	GUncertain significance
Select item 258339	NM_001851.6(COL9A1):c.1089+9C>G	COL9A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
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 1166536	NM_001851.6(COL9A1):c.674A>T (p.Asp225Val)	COL9A1 (D225V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1440290	NM_001851.6(COL9A1):c.9dup (p.Cys4fs)	COL9A1 (C4fs)	Duplication (frameshift variant)	Connective tissue disorder +1 more	GPathogenic/Likely pathogenic