"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258238	NM_001844.5(COL2A1):c.4213G>A (p.Gly1405Ser)	COL2A1 (G1405S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 93787	NM_001844.5(COL2A1):c.2400T>C (p.Asn800=)	COL2A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 258225	NM_001844.5(COL2A1):c.2295C>T (p.Gly765=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 195742	NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser)	COL2A1 (G504S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 258210	NM_001844.5(COL2A1):c.1366-11C>T	COL2A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 258244	NM_001844.5(COL2A1):c.762+15G>A	COL2A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 258243	NM_001844.5(COL2A1):c.654+15T>G	COL2A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 198471	NM_001844.5(COL2A1):c.504C>A (p.Gly168=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler syndrome type 1 +3 more	GBenign
Select item 17401	NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter)	COL2A1 (C64*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 93791	NM_001844.5(COL2A1):c.85+18C>G	COL2A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 93788	NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser)	COL2A1 (T9S)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +3 more	GBenign