"Athena Diagnostics"[submitter] AND "COL2A1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 308902	NM_001844.5(COL2A1):c.*4C>T	COL2A1	Single nucleotide variant (3 prime UTR variant)	Type II Collagenopathies +4 more	GBenign
Select item 804571	NM_001844.5(COL2A1):c.3084G>T (p.Thr1028=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 258232	NM_001844.5(COL2A1):c.3000G>A (p.Pro1000=)	COL2A1	Single nucleotide variant (synonymous variant)	Connective tissue disorder +4 more	GBenign
Select item 258231	NM_001844.5(COL2A1):c.2949C>T (p.Val983=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 166926	NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +20 more	GBenign/Likely benign
Select item 258213	NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)	COL2A1 (R550L +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 1 +3 more	GConflicting classifications of pathogenicity
Select item 258211	NM_001844.5(COL2A1):c.1545C>A (p.Arg515=)	COL2A1	Single nucleotide variant (synonymous variant)	Type II Collagenopathies +19 more	GBenign/Likely benign
Select item 585506	NM_001844.5(COL2A1):c.1527+158T>G	COL2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 585505	NM_001844.5(COL2A1):c.1527+155T>C	COL2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 585507	NM_001844.5(COL2A1):c.1527+88T>C	COL2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258209	NM_001844.5(COL2A1):c.1287T>C (p.Gly429=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 258208	NM_001844.5(COL2A1):c.1266+7G>A	COL2A1	Single nucleotide variant (intron variant)	not provided +19 more	GBenign/Likely benign
Select item 585508	NM_001844.5(COL2A1):c.631C>T (p.Pro211Ser)	COL2A1 (P211S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 308933	NM_001844.5(COL2A1):c.610-7G>A	COL2A1	Single nucleotide variant (intron variant)	Type II Collagenopathies +4 more	GBenign
Select item 195149	NM_001844.5(COL2A1):c.213C>T (p.Asp71=)	COL2A1	Single nucleotide variant (synonymous variant +1 more)	Stickler syndrome type 1 +4 more	GBenign/Likely benign