"COL2A1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1646685	NM_001844.5(COL2A1):c.4422G>A (p.Glu1474=)	COL2A1	Single nucleotide variant (synonymous variant)	COL2A1-related disorder +1 more	GLikely benign
Select item 1125241	NM_001844.5(COL2A1):c.4419C>T (p.Pro1473=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +17 more	GLikely benign
Select item 2630900	NM_001844.5(COL2A1):c.4400C>A (p.Pro1467His)	COL2A1 (P1398H +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder	GUncertain significance
Select item 882673	NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=)	COL2A1	Single nucleotide variant (synonymous variant)	Type II Collagenopathies +3 more	GConflicting classifications of pathogenicity
Select item 507351	NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=)	COL2A1	Single nucleotide variant (synonymous variant)	COL2A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2744773	NM_001844.5(COL2A1):c.4317+10G>A	COL2A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 29637	NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met)	COL2A1 (T1383M +1 more)	Single nucleotide variant (missense variant)	Avascular necrosis of femoral head, primary, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1927415	NM_001844.5(COL2A1):c.4015AGCAAG[1] (p.1339SK[1])	COL2A1	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 390559	NM_001844.5(COL2A1):c.3969C>T (p.Cys1323=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2630079	NM_001844.5(COL2A1):c.3925G>A (p.Asp1309Asn)	COL2A1 (D1240N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3029566	NM_001844.5(COL2A1):c.3912A>G (p.Gln1304=)	COL2A1	Single nucleotide variant (synonymous variant)	COL2A1-related disorder	GLikely benign
Select item 1213981	NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter)	COL2A1 (W1230* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 723336	NM_001844.5(COL2A1):c.3887-6del	COL2A1	Deletion (intron variant)	COL2A1-related disorder +1 more	GBenign
Select item 284083	NM_001844.5(COL2A1):c.3886G>C (p.Gly1296Arg)	COL2A1 (G1296R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1458145	NM_001844.5(COL2A1):c.3864_3865del (p.Cys1289fs)	COL2A1 (C1220fs +1 more)	Microsatellite (frameshift variant)	COL2A1-related disorder +1 more	GPathogenic
Select item 957243	NM_001844.5(COL2A1):c.3827G>A (p.Arg1276His)	COL2A1 (R1276H +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 287751	NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=)	COL2A1	Single nucleotide variant (synonymous variant)	COL2A1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1053804	NM_001844.5(COL2A1):c.3756C>A (p.Asp1252Glu)	COL2A1 (D1183E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1160590	NM_001844.5(COL2A1):c.3706C>T (p.Leu1236=)	COL2A1	Single nucleotide variant (synonymous variant)	COL2A1-related disorder +1 more	GLikely benign
Select item 1352837	NM_001844.5(COL2A1):c.3637C>T (p.Pro1213Ser)	COL2A1 (P1213S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 503695	NM_001844.5(COL2A1):c.3624del (p.Gly1209fs)	COL2A1 (G1209fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1453644	NM_001844.5(COL2A1):c.3597+1G>C	COL2A1	Single nucleotide variant (splice donor variant)	COL2A1-related disorder +1 more	GPathogenic
Select item 1301285	NM_001844.5(COL2A1):c.3568C>T (p.Arg1190Cys)	COL2A1 (R1121C +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder +1 more	GUncertain significance
Select item 2633691	NM_001844.5(COL2A1):c.3536G>A (p.Gly1179Glu)	COL2A1 (G1110E +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder	GLikely pathogenic
Select item 2116098	NM_001844.5(COL2A1):c.3504C>A (p.Pro1168=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1333360	NM_001844.5(COL2A1):c.3491G>A (p.Gly1164Asp)	COL2A1 (G1095D +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder +2 more	GLikely pathogenic
Select item 1023544	NM_001844.5(COL2A1):c.3439C>G (p.Pro1147Ala)	COL2A1 (P1078A +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1338881	NM_001844.5(COL2A1):c.3427G>A (p.Gly1143Ser)	COL2A1 (G1074S +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder +1 more	GPathogenic
Select item 1151875	NM_001844.5(COL2A1):c.3426C>T (p.Pro1142=)	COL2A1	Single nucleotide variant (synonymous variant)	COL2A1-related disorder +1 more	GLikely benign
Select item 509996	NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=)	COL2A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 596738	NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 2735840	NM_001844.5(COL2A1):c.3264_3265del (p.Gly1089fs)	COL2A1 (G1020fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1094469	NM_001844.5(COL2A1):c.3235G>A (p.Ala1079Thr)	COL2A1 (A1010T +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder +1 more	GBenign/Likely benign
Select item 1041678	NM_001844.5(COL2A1):c.3165+4_3165+7del	COL2A1	Deletion (splice donor variant)	COL2A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 511979	NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 954877	NM_001844.5(COL2A1):c.3064G>A (p.Val1022Met)	COL2A1 (V1022M +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder +1 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 +3 more	GConflicting classifications of pathogenicity
Select item 2786116	NM_001844.5(COL2A1):c.3003+7G>T	COL2A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2030618	NM_001844.5(COL2A1):c.3003+6T>A	COL2A1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 682149	NM_001844.5(COL2A1):c.2961G>A (p.Gly987=)	COL2A1	Single nucleotide variant (synonymous variant)	COL2A1-related disorder +1 more	GLikely benign
Select item 439512	NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu)	COL2A1 (P944L +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 391509	NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter)	COL2A1 (R940* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 265430	NM_001844.5(COL2A1):c.2813del (p.Pro938fs)	COL2A1 (P869fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 515600	NM_001844.5(COL2A1):c.2712C>T (p.Arg904=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 197431	NM_001844.5(COL2A1):c.2680-9C>T	COL2A1	Single nucleotide variant (intron variant)	Stickler syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 2631494	NM_001844.5(COL2A1):c.2679+1G>T	COL2A1	Single nucleotide variant (splice donor variant)	COL2A1-related disorder	GLikely pathogenic
Select item 1134645	NM_001844.5(COL2A1):c.2457C>T (p.Gly819=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3031967	NM_001844.5(COL2A1):c.2448T>C (p.Gly816=)	COL2A1	Single nucleotide variant (synonymous variant)	COL2A1-related disorder	GLikely benign
Select item 2632366	NM_001844.5(COL2A1):c.2409+1G>A	COL2A1	Single nucleotide variant (splice donor variant)	COL2A1-related disorder	GLikely pathogenic
Select item 1383662	NM_001844.5(COL2A1):c.2382T>A (p.Pro794=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 166926	NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)	COL2A1	Single nucleotide variant (synonymous variant)	COL2A1-related disorder +20 more	GBenign/Likely benign
Select item 3029542	NM_001844.5(COL2A1):c.2181T>C (p.Thr727=)	COL2A1	Single nucleotide variant (synonymous variant)	COL2A1-related disorder	GLikely benign
Select item 508645	NM_001844.5(COL2A1):c.2163C>T (p.Leu721=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler syndrome type 1 +3 more	GBenign/Likely benign
Select item 3033661	NM_001844.5(COL2A1):c.2050-6C>T	COL2A1	Single nucleotide variant (intron variant)	COL2A1-related disorder	GLikely benign
Select item 1051692	NM_001844.5(COL2A1):c.2018C>T (p.Pro673Leu)	COL2A1 (P604L +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder +1 more	GUncertain significance
Select item 2818771	NM_001844.5(COL2A1):c.1996-3T>C	COL2A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1067210	NM_001844.5(COL2A1):c.1996-9G>A	COL2A1	Single nucleotide variant (intron variant)	not specified +2 more	GPathogenic/Likely pathogenic
Select item 765601	NM_001844.5(COL2A1):c.1996-10C>T	COL2A1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1451223	NM_001844.5(COL2A1):c.1995+1G>T	COL2A1	Single nucleotide variant (splice donor variant)	COL2A1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2635264	NM_001844.5(COL2A1):c.1988G>A (p.Gly663Glu)	COL2A1 (G594E +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder	GUncertain significance
Select item 2632503	NM_001844.5(COL2A1):c.1987G>A (p.Gly663Arg)	COL2A1 (G594R +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder	GLikely pathogenic
Select item 3031245	NM_001844.5(COL2A1):c.1911G>T (p.Glu637Asp)	COL2A1 (E568D +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder	GUncertain significance
Select item 3029847	NM_001844.5(COL2A1):c.1854T>C (p.Gly618=)	COL2A1	Single nucleotide variant (synonymous variant)	COL2A1-related disorder	GLikely benign
Select item 2636251	NM_001844.5(COL2A1):c.1834-1G>A	COL2A1	Single nucleotide variant (splice acceptor variant)	COL2A1-related disorder	GLikely pathogenic
Select item 287533	NM_001844.5(COL2A1):c.1743T>C (p.Pro581=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1982524	NM_001844.5(COL2A1):c.1735-7C>G	COL2A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 308923	NM_001844.5(COL2A1):c.1680+9C>A	COL2A1	Single nucleotide variant (intron variant)	Stickler syndrome type 1 +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 +2 more	GConflicting classifications of pathogenicity
Select item 546132	NM_001844.5(COL2A1):c.1648C>T (p.Arg550Cys)	COL2A1 (R550C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1190901	NM_001844.5(COL2A1):c.1586C>A (p.Ala529Asp)	COL2A1 (A460D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3051645	NM_001844.5(COL2A1):c.1527+133G>A	COL2A1	Single nucleotide variant (intron variant)	COL2A1-related disorder	GLikely benign
Select item 2636570	NM_001844.5(COL2A1):c.1524_1527del (p.Arg509fs)	COL2A1 (R440fs +1 more)	Deletion (frameshift variant)	COL2A1-related disorder	GLikely pathogenic
Select item 2629553	NM_001844.5(COL2A1):c.1488G>T (p.Glu496Asp)	COL2A1 (E427D +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder	GUncertain significance
Select item 1297653	NM_001844.5(COL2A1):c.1435C>T (p.Gln479Ter)	COL2A1 (Q410* +1 more)	Single nucleotide variant (nonsense)	COL2A1-related disorder	GLikely pathogenic
Select item 3044752	NM_001844.5(COL2A1):c.1419+25G>C	COL2A1	Single nucleotide variant (intron variant)	COL2A1-related disorder	GLikely benign
Select item 2630544	NM_001844.5(COL2A1):c.1358G>T (p.Gly453Val)	COL2A1 (G384V +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder	GPathogenic
Select item 424568	NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser)	COL2A1 (P434S +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +4 more	GConflicting classifications of pathogenicity
Select item 2632940	NM_001844.5(COL2A1):c.1286G>A (p.Gly429Asp)	COL2A1 (G360D +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder	GLikely pathogenic
Select item 1345423	NM_001844.5(COL2A1):c.1258G>A (p.Gly420Arg)	COL2A1 (G351R +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder +1 more	GLikely pathogenic
Select item 498313	NM_001844.5(COL2A1):c.1077C>T (p.Val359=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1923686	NM_001844.5(COL2A1):c.1069-15G>A	COL2A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1561912	NM_001844.5(COL2A1):c.1069-16C>T	COL2A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 281546	NM_001844.5(COL2A1):c.1068G>A (p.Pro356=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1003871	NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr)	COL2A1 (A284T +1 more)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Beighton type +17 more	GConflicting classifications of pathogenicity
Select item 1158580	NM_001844.5(COL2A1):c.1056C>T (p.Pro352=)	COL2A1	Single nucleotide variant (synonymous variant)	COL2A1-related disorder +1 more	GLikely benign
Select item 1965031	NM_001844.5(COL2A1):c.969+10G>A	COL2A1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 510457	NM_001844.5(COL2A1):c.969+6T>C	COL2A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1124585	NM_001844.5(COL2A1):c.960G>A (p.Pro320=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 194199	NM_001844.5(COL2A1):c.870+5G>A	COL2A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3032258	NM_001844.5(COL2A1):c.870+2T>C	COL2A1	Single nucleotide variant (splice donor variant)	COL2A1-related disorder	GLikely pathogenic
Select item 1474371	NM_001844.5(COL2A1):c.816+6C>T	COL2A1	Single nucleotide variant (intron variant)	COL2A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 308931	NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)	COL2A1 (P268L +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +16 more	GConflicting classifications of pathogenicity
Select item 708146	NM_001844.5(COL2A1):c.763-19TC[5]	COL2A1	Microsatellite (intron variant)	COL2A1-related disorder +1 more	GBenign/Likely benign
Select item 430186	NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg)	COL2A1 (G219R +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +2 more	GPathogenic
Select item 391053	NM_001844.5(COL2A1):c.610-8C>T	COL2A1	Single nucleotide variant (intron variant)	COL2A1-related disorder +1 more	GLikely benign
Select item 1166443	NM_001844.5(COL2A1):c.528T>A (p.Gly176=)	COL2A1	Single nucleotide variant (synonymous variant)	COL2A1-related disorder +1 more	GBenign/Likely benign
Select item 3041072	NM_001844.5(COL2A1):c.516C>T (p.Pro172=)	COL2A1	Single nucleotide variant (synonymous variant)	COL2A1-related disorder	GLikely benign
Select item 2631877	NM_001844.5(COL2A1):c.494G>C (p.Gly165Ala)	COL2A1 (G165A +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder	GUncertain significance
Select item 3029909	NM_001844.5(COL2A1):c.371C>G (p.Pro124Arg)	COL2A1 (P124R +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorder	GUncertain significance
Select item 2631370	NM_001844.5(COL2A1):c.309+1G>A	COL2A1	Single nucleotide variant (splice donor variant)	COL2A1-related disorder	GLikely pathogenic

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