ClinVar for MedGen (Select 431606) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2637905	NM_001844.5(COL2A1):c.3437G>C (p.Gly1146Ala)	COL2A1 (G1077A +1 more)	Single nucleotide variant (missense variant)	Type II Collagenopathies	GLikely pathogenic
Select item 883689	NM_001844.5(COL2A1):c.711T>A (p.Gly237=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 883688	NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser)	COL2A1 (P191S +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 883499	NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 883498	NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser)	COL2A1 (Y1238S +1 more)	Single nucleotide variant (missense variant)	Type II Collagenopathies +3 more	GConflicting classifications of pathogenicity
Select item 883404	NM_001844.5(COL2A1):c.*331G>A	COL2A1	Single nucleotide variant (3 prime UTR variant)	Stickler syndrome type 1 +1 more	GUncertain significance
Select item 883403	NM_001844.5(COL2A1):c.*373G>C	COL2A1	Single nucleotide variant (3 prime UTR variant)	Stickler syndrome type 1 +1 more	GUncertain significance
Select item 882943	NM_001844.5(COL2A1):c.511G>C (p.Gly171Arg)	COL2A1 (G102R +1 more)	Single nucleotide variant (missense variant)	Type II Collagenopathies +1 more	GUncertain significance
Select item 882890	NM_001844.5(COL2A1):c.924+14A>C	COL2A1	Single nucleotide variant (intron variant)	Type II Collagenopathies +1 more	GUncertain significance
Select item 882808	NM_001844.5(COL2A1):c.2410-13T>G	COL2A1	Single nucleotide variant (intron variant)	Stickler syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 882674	NM_001844.5(COL2A1):c.4317+9G>C	COL2A1	Single nucleotide variant (intron variant)	Type II Collagenopathies +1 more	GUncertain significance
Select item 882673	NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=)	COL2A1	Single nucleotide variant (synonymous variant)	Type II Collagenopathies +2 more	GConflicting classifications of pathogenicity
Select item 881793	NM_001844.5(COL2A1):c.512G>T (p.Gly171Val)	COL2A1 (G102V +1 more)	Single nucleotide variant (missense variant)	Type II Collagenopathies +2 more	GUncertain significance
Select item 881739	NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala)	COL2A1 (T380A +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 881694	NM_001844.5(COL2A1):c.1995+5G>A	COL2A1	Single nucleotide variant (intron variant)	Stickler syndrome type 1 +2 more	GUncertain significance
Select item 881648	NM_001844.5(COL2A1):c.2633C>T (p.Thr878Ile)	COL2A1 (T878I +1 more)	Single nucleotide variant (missense variant)	Type II Collagenopathies +1 more	GUncertain significance
Select item 881602	NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly)	COL2A1 (A1034G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 881561	NM_001844.5(COL2A1):c.4074+12G>T	COL2A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 881508	NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu)	COL2A1 (P1483L +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 881347	NM_001844.5(COL2A1):c.708+14C>T	COL2A1	Single nucleotide variant (intron variant)	Stickler syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 881179	NM_001844.5(COL2A1):c.2805C>T (p.Ser935=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 881132	NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile)	COL2A1 (V1100I +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 881094	NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr)	COL2A1 (N1365Y +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 839628	NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu)	COL2A1 (P970L +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 751462	NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr)	COL2A1 (P952T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 596738	NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=)	COL2A1	Single nucleotide variant (synonymous variant)	Type II Collagenopathies +3 more	GBenign/Likely benign
Select item 594357	NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 593094	NM_001844.5(COL2A1):c.798G>A (p.Arg266=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 547262	NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 547247	NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr)	COL2A1 (A184T +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 516324	NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler syndrome type 1 +19 more	GBenign/Likely benign
Select item 515646	NM_001844.5(COL2A1):c.2130C>T (p.Pro710=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler syndrome type 1 +2 more	GBenign/Likely benign
Select item 511979	NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 509996	NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 508645	NM_001844.5(COL2A1):c.2163C>T (p.Leu721=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 508511	NM_001844.5(COL2A1):c.3534T>C (p.Asn1178=)	COL2A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 508187	NM_001844.5(COL2A1):c.1023+3G>A	COL2A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 449001	NM_001844.5(COL2A1):c.905C>T (p.Ala302Val)	COL2A1 (A302V +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita +18 more	GPathogenic/Likely pathogenic
Select item 424568	NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser)	COL2A1 (P434S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 380468	NM_001844.5(COL2A1):c.3102T>C (p.Pro1034=)	COL2A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 369017	NM_001844.4(COL2A1):c.-187G>A	COL2A1	Single nucleotide variant (genic upstream transcript variant)	Stickler Syndrome, Dominant +2 more	GBenign/Likely benign
Select item 308941	NM_001844.5(COL2A1):c.-119C>T	COL2A1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 308940	NM_001844.5(COL2A1):c.-15G>T	COL2A1	Single nucleotide variant (5 prime UTR variant)	Type II Collagenopathies +1 more	GUncertain significance
Select item 308939	NM_001844.5(COL2A1):c.12C>T (p.Leu4=)	COL2A1	Single nucleotide variant (synonymous variant)	Type II Collagenopathies +1 more	GUncertain significance
Select item 308938	NM_001844.5(COL2A1):c.17C>A (p.Ala6Asp)	COL2A1 (A6D)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +3 more	GBenign/Likely benign
Select item 308937	NM_001844.5(COL2A1):c.85+10C>G	COL2A1	Single nucleotide variant (intron variant)	Type II Collagenopathies +4 more	GConflicting classifications of pathogenicity
Select item 308936	NM_001844.5(COL2A1):c.246C>T (p.Phe82=)	COL2A1	Single nucleotide variant (synonymous variant +1 more)	Stickler syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 308935	NM_001844.5(COL2A1):c.507C>T (p.Pro169=)	COL2A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 308934	NM_001844.5(COL2A1):c.532-3C>A	COL2A1	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 308933	NM_001844.5(COL2A1):c.610-7G>A	COL2A1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 308932	NM_001844.5(COL2A1):c.709-8G>T	COL2A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 308931	NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)	COL2A1 (P268L +1 more)	Single nucleotide variant (missense variant)	not provided +15 more	GConflicting classifications of pathogenicity
Select item 308930	NM_001844.5(COL2A1):c.1004C>G (p.Thr335Ser)	COL2A1 (T335S +1 more)	Single nucleotide variant (missense variant)	Type II Collagenopathies +2 more	GConflicting classifications of pathogenicity
Select item 308929	NM_001844.5(COL2A1):c.1049C>T (p.Pro350Leu)	COL2A1 (P350L +1 more)	Single nucleotide variant (missense variant)	Type II Collagenopathies +1 more	GUncertain significance
Select item 308928	NM_001844.5(COL2A1):c.1077C>G (p.Val359=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 308927	NM_001844.5(COL2A1):c.1366-13C>A	COL2A1	Single nucleotide variant (intron variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 308926	NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile)	COL2A1 (V500I +1 more)	Single nucleotide variant (missense variant)	Type II Collagenopathies +2 more	GConflicting classifications of pathogenicity
Select item 308925	NM_001844.5(COL2A1):c.1659A>G (p.Glu553=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 308924	NM_001844.5(COL2A1):c.1680+8G>T	COL2A1	Single nucleotide variant (intron variant)	Stickler syndrome type 1 +1 more	GConflicting classifications of pathogenicity
Select item 308923	NM_001844.5(COL2A1):c.1680+9C>A	COL2A1	Single nucleotide variant (intron variant)	Stickler syndrome type 1 +1 more	GConflicting classifications of pathogenicity
Select item 308922	NM_001844.5(COL2A1):c.1938T>C (p.Pro646=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 308921	NM_001844.5(COL2A1):c.2046C>T (p.Asp682=)	COL2A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 308920	NM_001844.5(COL2A1):c.2095-4G>A	COL2A1	Single nucleotide variant (intron variant)	not provided +19 more	GBenign/Likely benign
Select item 308919	NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr)	COL2A1 (A761T +1 more)	Single nucleotide variant (missense variant)	Type II Collagenopathies +2 more	GConflicting classifications of pathogenicity
Select item 308918	NM_001844.5(COL2A1):c.2410-11C>T	COL2A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 308917	NM_001844.5(COL2A1):c.2484G>C (p.Gly828=)	COL2A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 308916	NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln)	COL2A1 (R940Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 308915	NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys)	COL2A1 (R1016K +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 308914	NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr)	COL2A1 (A1051T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 308913	NM_001844.5(COL2A1):c.3244A>G (p.Thr1082Ala)	COL2A1 (T1082A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 308912	NM_001844.5(COL2A1):c.3327+3G>A	COL2A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 308911	NM_001844.5(COL2A1):c.3494C>T (p.Pro1165Leu)	COL2A1 (P1165L +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 308910	NM_001844.5(COL2A1):c.3561T>G (p.Pro1187=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler Syndrome, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 308909	NM_001844.5(COL2A1):c.3659T>C (p.Met1220Thr)	COL2A1 (M1220T +1 more)	Single nucleotide variant (missense variant)	Type II Collagenopathies +1 more	GUncertain significance
Select item 308908	NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser)	COL2A1 (G1246S +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 308907	NM_001844.5(COL2A1):c.3808C>T (p.Arg1270Cys)	COL2A1 (R1270C +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +2 more	GUncertain significance
Select item 308906	NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile)	COL2A1 (V1373I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 308905	NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser)	COL2A1 (N1417S +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 308904	NM_001844.5(COL2A1):c.4264C>T (p.Arg1422Trp)	COL2A1 (R1422W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 308903	NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys)	COL2A1 (R1459C +1 more)	Single nucleotide variant (missense variant)	Type II Collagenopathies +2 more	GConflicting classifications of pathogenicity
Select item 308902	NM_001844.5(COL2A1):c.*4C>T	COL2A1	Single nucleotide variant (3 prime UTR variant)	Connective tissue disorder +4 more	GBenign
Select item 308901	NM_001844.5(COL2A1):c.*28C>T	COL2A1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 308900	NM_001844.5(COL2A1):c.*120C>G	COL2A1	Single nucleotide variant (3 prime UTR variant)	Type II Collagenopathies +1 more	GUncertain significance
Select item 308899	NM_001844.5(COL2A1):c.*131C>T	COL2A1	Single nucleotide variant (3 prime UTR variant)	Type II Collagenopathies +1 more	GUncertain significance
Select item 308898	NM_001844.5(COL2A1):c.*136C>T	COL2A1	Single nucleotide variant (3 prime UTR variant)	Type II Collagenopathies +2 more	GBenign
Select item 308897	NM_001844.5(COL2A1):c.*158C>A	COL2A1	Single nucleotide variant (3 prime UTR variant)	Type II Collagenopathies +1 more	GUncertain significance
Select item 308896	NM_001844.5(COL2A1):c.*295C>T	COL2A1	Single nucleotide variant (3 prime UTR variant)	Stickler syndrome type 1 +2 more	GBenign
Select item 308895	NM_001844.5(COL2A1):c.*305G>A	COL2A1	Single nucleotide variant (3 prime UTR variant)	Type II Collagenopathies +2 more	GConflicting classifications of pathogenicity
Select item 308894	NM_001844.5(COL2A1):c.*406A>G	COL2A1	Single nucleotide variant (3 prime UTR variant)	Stickler syndrome type 1 +1 more	GUncertain significance
Select item 287751	NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 284988	NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser)	COL2A1 (N545S +1 more)	Single nucleotide variant (missense variant)	Type II Collagenopathies +2 more	GConflicting classifications of pathogenicity
Select item 284038	NM_001844.5(COL2A1):c.195C>T (p.Asp65=)	COL2A1	Single nucleotide variant (synonymous variant +1 more)	Stickler syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 283607	NM_001844.5(COL2A1):c.3003+9G>A	COL2A1	Single nucleotide variant (intron variant)	Type II Collagenopathies +3 more	GBenign/Likely benign
Select item 283567	NM_001844.5(COL2A1):c.708+8C>T	COL2A1	Single nucleotide variant (intron variant)	Stickler syndrome type 1 +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 258239	NM_001844.5(COL2A1):c.426A>T (p.Glu142Asp)	COL2A1 (E142D +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
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 258236	NM_001844.5(COL2A1):c.4075-14C>G	COL2A1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 258235	NM_001844.5(COL2A1):c.4068C>T (p.Gly1356=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign

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