List of variants in gene COL11A1 reported as pathogenic for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 102

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.1245+1G>A	rs766849561	0.00005
NM_001854.4(COL11A1):c.1003G>T (p.Glu335Ter)	rs776004614	0.00001
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)	rs372419698	0.00001
NC_000001.10:g.(?_103343575)_(103388965_?)del
NC_000001.10:g.(?_103343575)_(103573734_?)del
NC_000001.10:g.(?_103345219)_(103356080_?)del
NC_000001.10:g.(?_103377695)_(103379266_?)del
NC_000001.10:g.(?_103377695)_(103381260_?)del
NC_000001.10:g.(?_103377695)_(103412532_?)del
NC_000001.10:g.(?_103380260)_(103548528_?)del
NC_000001.10:g.(?_103385847)_(103496820_?)del
NC_000001.10:g.(?_103388872)_(103388965_?)del
NC_000001.10:g.(?_103412385)_(103449767_?)del
NC_000001.10:g.(?_103427402)_(103573734_?)del
NC_000001.10:g.(?_103444244)_(103444489_?)del
NC_000001.10:g.(?_103444631)_(103448784_?)del
NC_000001.10:g.(?_103477949)_(103496820_?)del
NC_000001.11:g.103008517dup
NM_001854.4(COL11A1):c.1026T>A (p.Tyr342Ter)
NM_001854.4(COL11A1):c.1162G>T (p.Glu388Ter)
NM_001854.4(COL11A1):c.1190dup (p.Pro397_Asn398insTer)	rs1343199316
NM_001854.4(COL11A1):c.1191del (p.Asn398fs)
NM_001854.4(COL11A1):c.1630-1G>C	rs2101869722
NM_001854.4(COL11A1):c.1630-1G>T
NM_001854.4(COL11A1):c.1630-2A>T
NM_001854.4(COL11A1):c.1630-2del	rs1057517989
NM_001854.4(COL11A1):c.1685G>A (p.Gly562Asp)	rs886039743
NM_001854.4(COL11A1):c.1737+2T>G
NM_001854.4(COL11A1):c.1752_1780del (p.Asp585fs)
NM_001854.4(COL11A1):c.1791+1del
NM_001854.4(COL11A1):c.1852C>T (p.Arg618Ter)	rs1469521034
NM_001854.4(COL11A1):c.1856del (p.Gly619fs)
NM_001854.4(COL11A1):c.1883dup (p.Gly628_Asp629insTer)
NM_001854.4(COL11A1):c.1900-2A>G
NM_001854.4(COL11A1):c.1951C>T (p.Arg651Ter)
NM_001854.4(COL11A1):c.2024del (p.Pro675fs)
NM_001854.4(COL11A1):c.2149C>T (p.Gln717Ter)
NM_001854.4(COL11A1):c.2156_2157insT (p.Lys719fs)	rs1274185001
NM_001854.4(COL11A1):c.2193_2194dup (p.Pro732fs)	rs745956910
NM_001854.4(COL11A1):c.2241+5G>T	rs2101800665
NM_001854.4(COL11A1):c.2292_2295dup (p.Gly766fs)
NM_001854.4(COL11A1):c.2311del (p.Arg771fs)
NM_001854.4(COL11A1):c.2324G>A (p.Gly775Glu)
NM_001854.4(COL11A1):c.2335G>T (p.Glu779Ter)
NM_001854.4(COL11A1):c.2452C>T (p.Arg818Ter)
NM_001854.4(COL11A1):c.254del (p.Pro85fs)
NM_001854.4(COL11A1):c.2580del (p.Pro861fs)
NM_001854.4(COL11A1):c.2603G>A (p.Gly868Asp)	rs2101683875
NM_001854.4(COL11A1):c.2611-2A>T
NM_001854.4(COL11A1):c.2662C>T (p.Arg888Ter)	rs748815162
NM_001854.4(COL11A1):c.2707A>T (p.Lys903Ter)
NM_001854.4(COL11A1):c.2754+5G>A	rs1057518666
NM_001854.4(COL11A1):c.2755-2A>G	rs2101653580
NM_001854.4(COL11A1):c.2808+1G>A	rs1553223152
NM_001854.4(COL11A1):c.2808+1G>C
NM_001854.4(COL11A1):c.2808+3_2808+6del	rs2101652956
NM_001854.4(COL11A1):c.2809-1G>A
NM_001854.4(COL11A1):c.2809-2A>C
NM_001854.4(COL11A1):c.2809-2A>G	rs1661835277
NM_001854.4(COL11A1):c.2809-3C>G
NM_001854.4(COL11A1):c.2831dup (p.Pro945fs)
NM_001854.4(COL11A1):c.2916+1G>A	rs2101595036
NM_001854.4(COL11A1):c.3168+1G>A	rs886042653
NM_001854.4(COL11A1):c.3168+1G>T	rs886042653
NM_001854.4(COL11A1):c.3168+5G>C
NM_001854.4(COL11A1):c.3292C>T (p.Gln1098Ter)	rs2101305801
NM_001854.4(COL11A1):c.3546dup (p.Gly1183fs)
NM_001854.4(COL11A1):c.3569_3590del (p.Gly1189_Phe1190insTer)
NM_001854.4(COL11A1):c.3709-1G>A	rs727503881
NM_001854.4(COL11A1):c.3717del (p.Gly1240fs)	rs2101066868
NM_001854.4(COL11A1):c.3740C>G (p.Ser1247Ter)	rs1655833195
NM_001854.4(COL11A1):c.3762+2T>G
NM_001854.4(COL11A1):c.3762G>A (p.Lys1254=)
NM_001854.4(COL11A1):c.3763-2A>C
NM_001854.4(COL11A1):c.3816+1G>A	rs398122828
NM_001854.4(COL11A1):c.3816+1G>C	rs398122828
NM_001854.4(COL11A1):c.3816+1G>T
NM_001854.4(COL11A1):c.3816+2dup	rs1469787406
NM_001854.4(COL11A1):c.3939del (p.Pro1314fs)
NM_001854.4(COL11A1):c.3943G>T (p.Gly1315Ter)	rs1557812993
NM_001854.4(COL11A1):c.3978+4_3978+7del
NM_001854.4(COL11A1):c.4032+1G>A	rs1553200868
NM_001854.4(COL11A1):c.4067_4068del (p.Pro1356fs)
NM_001854.4(COL11A1):c.4084C>T (p.Arg1362Ter)	rs755987732
NM_001854.4(COL11A1):c.4131del (p.Gly1378fs)	rs2100925460
NM_001854.4(COL11A1):c.4417C>T (p.Arg1473Ter)
NM_001854.4(COL11A1):c.4519-2A>G	rs2100852410
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)	rs1553193910
NM_001854.4(COL11A1):c.4554+1G>C	rs886044244
NM_001854.4(COL11A1):c.4565G>A (p.Gly1522Asp)
NM_001854.4(COL11A1):c.4813C>T (p.Arg1605Ter)
NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg)	rs1672165764
NM_001854.4(COL11A1):c.4882C>T (p.Gln1628Ter)
NM_001854.4(COL11A1):c.4962del (p.Lys1654fs)
NM_001854.4(COL11A1):c.4985C>G (p.Ser1662Ter)	rs956233074
NM_001854.4(COL11A1):c.5009_5013del (p.Ser1670fs)	rs2101017789
NM_001854.4(COL11A1):c.5033dup (p.Leu1680fs)
NM_001854.4(COL11A1):c.729_730del (p.Cys243_Asp244delinsTer)
NM_001854.4(COL11A1):c.802G>T (p.Glu268Ter)
NM_001854.4(COL11A1):c.830_831dup (p.Tyr278fs)
NM_001854.4(COL11A1):c.874G>T (p.Glu292Ter)
NM_080629.2(COL11A1):c.2796_2813delTCAAGGACCTCAGGGTCC

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.