ClinVar Miner

Variants in gene COL2A1 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 33
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HGVS dbSNP
NM_001844.5(COL2A1):c.1023+3G>A rs374570848
NM_001844.5(COL2A1):c.1068G>A (p.Pro356=) rs147202936
NM_001844.5(COL2A1):c.1077C>T (p.Val359=) rs202002349
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=) rs201575114
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser) rs145042175
NM_001844.5(COL2A1):c.1680+8G>T rs754310324
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=) rs371835359
NM_001844.5(COL2A1):c.2307C>T (p.Asp769=) rs145023922
NM_001844.5(COL2A1):c.2410-11C>T rs886049447
NM_001844.5(COL2A1):c.2410-7C>T rs767041085
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593
NM_001844.5(COL2A1):c.2680-9C>T rs369022247
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=)
NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu) rs140368756
NM_001844.5(COL2A1):c.2949C>T (p.Val983=) rs201719788
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=) rs367982631
NM_001844.5(COL2A1):c.3375C>T (p.Gly1125=) rs543083152
NM_001844.5(COL2A1):c.3561T>G (p.Pro1187=) rs536885536
NM_001844.5(COL2A1):c.3699C>T (p.Pro1233=) rs141944722
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser)
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=) rs139114389
NM_001844.5(COL2A1):c.3952G>A (p.Glu1318Lys) rs781229123
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) rs201646745
NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr)
NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=) rs367625071
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416
NM_001844.5(COL2A1):c.4290G>A (p.Thr1430=) rs554488169
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=) rs201223454
NM_001844.5(COL2A1):c.708+14C>T
NM_001844.5(COL2A1):c.798G>A (p.Arg266=) rs376753701
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) rs142770543

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