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EmVClass

NTD Genetics' Variant Classification Catalog

Please enter the official gene symbol and click Search to see all the variants that have been seen and analyzed by NTD Genetics for that gene.
NTD Genetics classification definitions may be reviewed here.
You may submit a question regarding a variant by clicking the appropriate button on the returned data table.
You may prompt a review of a variant of unknown signifigance (VOUS) reviewed greater than six months ago by clicking the appropriate button on the returned data table.
If a reported variant has changed classification, you may request an amended report by clicking here.
OrderGeneExonNucleotide ChangeProtein ChangeAlias ListingClassificationLast Reviewed  
1IFT122Ex1NM_052985.3:c.41+15G>TNM_001276270.1:c.-553C>A, NM_001276271.1:c.-553C>A, NM_001276272.1:c.-553C>A, NM_001276273.1:c.-553C>A, NM_001280541.1:c.41+15G>T, NM_001280545.1:c.-561+15G>T, NM_001280546.1:c.-331+15G>T, NM_003925.1:c.-553C>A, NM_003925.2:c.-553C>A, NM_018262.2:c.41+15G>T, NM_018262.3:c.41+15G>T, NM_052985.1:c.41+15G>T, NM_052985.2:c.41+15G>T, NM_052985.3:c.41+15G>T, NM_052989.1:c.41+15G>T, NM_052989.2:c.41+15G>T, NM_052990.1:c.41+15G>T, NM_052990.2:c.41+15G>T, XM_005247600.1:c.41+15G>T, XM_005247601.1:c.41+15G>T, XM_005247602.1:c.41+15G>T, XM_005247603.1:c.41+15G>T, XM_005247604.1:c.41+15G>T, XM_005247605.1:c.41+15G>T, XM_005247606.1:c.41+15G>T, XM_005247607.1:c.41+15G>T, XM_005247608.1:c.41+15G>T, XM_005247609.1:c.41+15G>T, XM_005247610.1:c.41+15G>T, XM_005247611.1:c.41+15G>T, XM_005247612.1:c.41+15G>T, XM_005247613.1:c.-333+15G>T, XM_005247614.1:c.41+15G>T, XM_005247615.1:c.-333+15G>TVOUS09/23/2016
2IFT122Ex4NM_052985.3:c.229G>Ap.Val77Ile | p.V77INM_001280541.1:c.229G>A, NM_001280545.1:c.-222G>A, NM_001280546.1:c.-178-2594G>A, NM_018262.2:c.229G>A, NM_018262.3:c.229G>A, NM_052985.1:c.229G>A, NM_052985.2:c.229G>A, NM_052985.3:c.229G>A, NM_052989.1:c.229G>A, NM_052989.2:c.229G>A, NM_052990.1:c.194-4926G>A, NM_052990.2:c.194-4926G>A, XM_005247600.1:c.229G>A, XM_005247601.1:c.229G>A, XM_005247602.1:c.229G>A, XM_005247603.1:c.229G>A, XM_005247604.1:c.229G>A, XM_005247605.1:c.229G>A, XM_005247606.1:c.229G>A, XM_005247607.1:c.194-4926G>A, XM_005247608.1:c.229G>A, XM_005247609.1:c.229G>A, XM_005247610.1:c.229G>A, XM_005247611.1:c.194-4926G>A, XM_005247612.1:c.194-4911G>A, XM_005247613.1:c.-145G>A, XM_005247614.1:c.194-4926G>A, XM_005247615.1:c.-145G>AVOUS09/16/2015
3IFT122Ex5NM_052985.3:c.316C>Ap.Leu106Met | p.L106MNM_001280541.1:c.316C>A, NM_001280545.1:c.-178-331C>A, NM_001280546.1:c.-178-331C>A, NM_018262.2:c.273-331C>A, NM_018262.3:c.273-331C>A, NM_052985.1:c.316C>A, NM_052985.2:c.316C>A, NM_052985.3:c.316C>A, NM_052989.1:c.273-331C>A, NM_052989.2:c.273-331C>A, NM_052990.1:c.194-2663C>A, NM_052990.2:c.194-2663C>A, XM_005247600.1:c.316C>A, XM_005247601.1:c.316C>A, XM_005247602.1:c.316C>A, XM_005247603.1:c.273-331C>A, XM_005247604.1:c.273-331C>A, XM_005247605.1:c.316C>A, XM_005247606.1:c.316C>A, XM_005247607.1:c.194-2663C>A, XM_005247608.1:c.273-331C>A, XM_005247609.1:c.273-331C>A, XM_005247610.1:c.273-331C>A, XM_005247611.1:c.194-2663C>A, XM_005247612.1:c.194-2648C>A, XM_005247613.1:c.-102+2220C>A, XM_005247614.1:c.194-2663C>A, XM_005247615.1:c.-102+2220C>ALikely benign09/06/2019 
4IFT122Ex5NM_052985.3:c.339A>Tp.Arg113Ser | p.R113SNM_001280541.1:c.339A>T, NM_001280545.1:c.-178-308A>T, NM_001280546.1:c.-178-308A>T, NM_018262.2:c.273-308A>T, NM_018262.3:c.273-308A>T, NM_052985.1:c.339A>T, NM_052985.2:c.339A>T, NM_052985.3:c.339A>T, NM_052989.1:c.273-308A>T, NM_052989.2:c.273-308A>T, NM_052990.1:c.194-2640A>T, NM_052990.2:c.194-2640A>T, XM_005247600.1:c.339A>T, XM_005247601.1:c.339A>T, XM_005247602.1:c.339A>T, XM_005247603.1:c.273-308A>T, XM_005247604.1:c.273-308A>T, XM_005247605.1:c.339A>T, XM_005247606.1:c.339A>T, XM_005247607.1:c.194-2640A>T, XM_005247608.1:c.273-308A>T, XM_005247609.1:c.273-308A>T, XM_005247610.1:c.273-308A>T, XM_005247611.1:c.194-2640A>T, XM_005247612.1:c.194-2625A>T, XM_005247613.1:c.-102+2243A>T, XM_005247614.1:c.194-2640A>T, XM_005247615.1:c.-102+2243A>TVOUS11/21/2017
5IFT122Ex6NM_052985.3:c.474A>Gp.Gln158= | p.Q158=NM_001280541.1:c.474A>G, NM_001280545.1:c.-130A>G, NM_001280546.1:c.-130A>G, NM_018262.2:c.321A>G, NM_018262.3:c.321A>G, NM_052985.1:c.474A>G, NM_052985.2:c.474A>G, NM_052985.3:c.474A>G, NM_052989.1:c.321A>G, NM_052989.2:c.321A>G, NM_052990.1:c.194-2284A>G, NM_052990.2:c.194-2284A>G, XM_005247600.1:c.474A>G, XM_005247601.1:c.474A>G, XM_005247602.1:c.474A>G, XM_005247603.1:c.321A>G, XM_005247604.1:c.321A>G, XM_005247605.1:c.474A>G, XM_005247606.1:c.474A>G, XM_005247607.1:c.194-2284A>G, XM_005247608.1:c.321A>G, XM_005247609.1:c.321A>G, XM_005247610.1:c.321A>G, XM_005247611.1:c.194-2284A>G, XM_005247612.1:c.194-2269A>G, XM_005247613.1:c.-101-2284A>G, XM_005247614.1:c.194-2284A>G, XM_005247615.1:c.-101-2284A>GLikely benign10/23/2017 
6IFT122Ex8NM_052985.3:c.597G>Ap.Ala199= | p.A199=NM_001280541.1:c.597G>A, NM_001280545.1:c.-7G>A, NM_001280546.1:c.-7G>A, NM_018262.2:c.444G>A, NM_018262.3:c.444G>A, NM_052985.1:c.597G>A, NM_052985.2:c.597G>A, NM_052985.3:c.597G>A, NM_052989.1:c.444G>A, NM_052989.2:c.444G>A, NM_052990.1:c.288G>A, NM_052990.2:c.288G>A, XM_005247600.1:c.597G>A, XM_005247601.1:c.597G>A, XM_005247602.1:c.597G>A, XM_005247603.1:c.444G>A, XM_005247604.1:c.444G>A, XM_005247605.1:c.597G>A, XM_005247606.1:c.597G>A, XM_005247607.1:c.288G>A, XM_005247608.1:c.444G>A, XM_005247609.1:c.444G>A, XM_005247610.1:c.444G>A, XM_005247611.1:c.288G>A, XM_005247612.1:c.303G>A, XM_005247613.1:c.-7G>A, XM_005247614.1:c.260+1036G>A, XM_005247615.1:c.-7G>AVOUS03/27/2019
7IFT122Ex9NM_052985.3:c.770T>Cp.Ile257Thr | p.I257TNM_001280541.1:c.716+2162T>C, NM_001280545.1:c.167T>C, NM_001280546.1:c.113+2162T>C, NM_018262.2:c.563+2162T>C, NM_018262.3:c.563+2162T>C, NM_052985.1:c.770T>C, NM_052985.2:c.770T>C, NM_052985.3:c.770T>C, NM_052989.1:c.617T>C, NM_052989.2:c.617T>C, NM_052990.1:c.407+2162T>C, NM_052990.2:c.407+2162T>C, XM_005247600.1:c.770T>C, XM_005247601.1:c.770T>C, XM_005247602.1:c.770T>C, XM_005247603.1:c.617T>C, XM_005247604.1:c.617T>C, XM_005247605.1:c.770T>C, XM_005247606.1:c.716+2162T>C, XM_005247607.1:c.461T>C, XM_005247608.1:c.563+2162T>C, XM_005247609.1:c.563+2162T>C, XM_005247610.1:c.563+2162T>C, XM_005247611.1:c.407+2162T>C, XM_005247612.1:c.422+2162T>C, XM_005247613.1:c.167T>C, XM_005247614.1:c.261-2399T>C, XM_005247615.1:c.113+2162T>CLikely benign10/12/2015 
8IFT122Ex9NM_052985.3:c.822C>Tp.Tyr274= | p.Y274=NM_001280541.1:c.716+2214C>T, NM_001280545.1:c.219C>T, NM_001280546.1:c.113+2214C>T, NM_018262.2:c.563+2214C>T, NM_018262.3:c.563+2214C>T, NM_052985.1:c.822C>T, NM_052985.2:c.822C>T, NM_052985.3:c.822C>T, NM_052989.1:c.669C>T, NM_052989.2:c.669C>T, NM_052990.1:c.407+2214C>T, NM_052990.2:c.407+2214C>T, XM_005247600.1:c.822C>T, XM_005247601.1:c.822C>T, XM_005247602.1:c.822C>T, XM_005247603.1:c.669C>T, XM_005247604.1:c.669C>T, XM_005247605.1:c.822C>T, XM_005247606.1:c.716+2214C>T, XM_005247607.1:c.513C>T, XM_005247608.1:c.563+2214C>T, XM_005247609.1:c.563+2214C>T, XM_005247610.1:c.563+2214C>T, XM_005247611.1:c.407+2214C>T, XM_005247612.1:c.422+2214C>T, XM_005247613.1:c.219C>T, XM_005247614.1:c.261-2347C>T, XM_005247615.1:c.113+2214C>TVOUS06/30/2016
9IFT122Ex10NM_052985.3:c.931G>Cp.Gly311Arg | p.G311RNM_001280541.1:c.754G>C, NM_001280545.1:c.328G>C, NM_001280546.1:c.151G>C, NM_018262.2:c.601G>C, NM_018262.3:c.601G>C, NM_052985.1:c.931G>C, NM_052985.2:c.931G>C, NM_052985.3:c.931G>C, NM_052989.1:c.778G>C, NM_052989.2:c.778G>C, NM_052990.1:c.445G>C, NM_052990.2:c.445G>C, XM_005247600.1:c.931G>C, XM_005247601.1:c.931G>C, XM_005247602.1:c.931G>C, XM_005247603.1:c.778G>C, XM_005247604.1:c.778G>C, XM_005247605.1:c.931G>C, XM_005247606.1:c.754G>C, XM_005247607.1:c.622G>C, XM_005247608.1:c.601G>C, XM_005247609.1:c.601G>C, XM_005247610.1:c.601G>C, XM_005247611.1:c.445G>C, XM_005247612.1:c.460G>C, XM_005247613.1:c.328G>C, XM_005247614.1:c.298G>C, XM_005247615.1:c.151G>CVOUS06/15/2018
10IFT122Ex11NM_052985.3:c.1131G>Ap.Thr377= | p.T377=NM_001280541.1:c.954G>A, NM_001280545.1:c.528G>A, NM_001280546.1:c.351G>A, NM_018262.2:c.801G>A, NM_018262.3:c.801G>A, NM_052985.1:c.1131G>A, NM_052985.2:c.1131G>A, NM_052985.3:c.1131G>A, NM_052989.1:c.978G>A, NM_052989.2:c.978G>A, NM_052990.1:c.645G>A, NM_052990.2:c.645G>A, XM_005247600.1:c.1131G>A, XM_005247601.1:c.1131G>A, XM_005247602.1:c.1131G>A, XM_005247603.1:c.978G>A, XM_005247604.1:c.978G>A, XM_005247605.1:c.1131G>A, XM_005247606.1:c.954G>A, XM_005247607.1:c.822G>A, XM_005247608.1:c.801G>A, XM_005247609.1:c.801G>A, XM_005247610.1:c.801G>A, XM_005247611.1:c.645G>A, XM_005247612.1:c.660G>A, XM_005247613.1:c.528G>A, XM_005247614.1:c.498G>A, XM_005247615.1:c.351G>AVOUS09/21/2015
11IFT122Ex12NM_052985.3:c.1179C>Tp.Asp393= | p.D393=NM_001280541.1:c.1002C>T, NM_001280545.1:c.576C>T, NM_001280546.1:c.399C>T, NM_018262.2:c.849C>T, NM_018262.3:c.849C>T, NM_052985.1:c.1179C>T, NM_052985.2:c.1179C>T, NM_052985.3:c.1179C>T, NM_052989.1:c.1026C>T, NM_052989.2:c.1026C>T, NM_052990.1:c.693C>T, NM_052990.2:c.693C>T, XM_005247600.1:c.1179C>T, XM_005247601.1:c.1179C>T, XM_005247602.1:c.1179C>T, XM_005247603.1:c.1026C>T, XM_005247604.1:c.1026C>T, XM_005247605.1:c.1179C>T, XM_005247606.1:c.1002C>T, XM_005247607.1:c.870C>T, XM_005247608.1:c.849C>T, XM_005247609.1:c.849C>T, XM_005247610.1:c.849C>T, XM_005247611.1:c.693C>T, XM_005247612.1:c.708C>T, XM_005247613.1:c.576C>T, XM_005247614.1:c.546C>T, XM_005247615.1:c.399C>TVOUS11/06/2015
12IFT122Ex12NM_052985.3:c.1237C>Gp.Arg413Gly | p.R413GNM_001280541.1:c.1060C>G, NM_001280545.1:c.634C>G, NM_001280546.1:c.457C>G, NM_018262.2:c.907C>G, NM_018262.3:c.907C>G, NM_052985.1:c.1237C>G, NM_052985.2:c.1237C>G, NM_052985.3:c.1237C>G, NM_052989.1:c.1084C>G, NM_052989.2:c.1084C>G, NM_052990.1:c.751C>G, NM_052990.2:c.751C>G, XM_005247600.1:c.1237C>G, XM_005247601.1:c.1237C>G, XM_005247602.1:c.1237C>G, XM_005247603.1:c.1084C>G, XM_005247604.1:c.1084C>G, XM_005247605.1:c.1237C>G, XM_005247606.1:c.1060C>G, XM_005247607.1:c.928C>G, XM_005247608.1:c.907C>G, XM_005247609.1:c.907C>G, XM_005247610.1:c.907C>G, XM_005247611.1:c.751C>G, XM_005247612.1:c.766C>G, XM_005247613.1:c.634C>G, XM_005247614.1:c.604C>G, XM_005247615.1:c.457C>GVOUS10/07/2016
13IFT122Ex12NM_052985.3:c.1256G>Ap.Ser419Asn | p.S419NNM_001280541.1:c.1079G>A, NM_001280545.1:c.653G>A, NM_001280546.1:c.476G>A, NM_018262.2:c.926G>A, NM_018262.3:c.926G>A, NM_052985.1:c.1256G>A, NM_052985.2:c.1256G>A, NM_052985.3:c.1256G>A, NM_052989.1:c.1103G>A, NM_052989.2:c.1103G>A, NM_052990.1:c.770G>A, NM_052990.2:c.770G>A, XM_005247600.1:c.1256G>A, XM_005247601.1:c.1256G>A, XM_005247602.1:c.1256G>A, XM_005247603.1:c.1103G>A, XM_005247604.1:c.1103G>A, XM_005247605.1:c.1256G>A, XM_005247606.1:c.1079G>A, XM_005247607.1:c.947G>A, XM_005247608.1:c.926G>A, XM_005247609.1:c.926G>A, XM_005247610.1:c.926G>A, XM_005247611.1:c.770G>A, XM_005247612.1:c.785G>A, XM_005247613.1:c.653G>A, XM_005247614.1:c.623G>A, XM_005247615.1:c.476G>ABenign12/12/2014 
14IFT122Ex13NM_052985.3:c.1301-7T>CNM_001280541.1:c.1124-7T>C, NM_001280545.1:c.698-7T>C, NM_001280546.1:c.521-7T>C, NM_018262.2:c.971-7T>C, NM_018262.3:c.971-7T>C, NM_052985.1:c.1301-7T>C, NM_052985.2:c.1301-7T>C, NM_052985.3:c.1301-7T>C, NM_052989.1:c.1148-7T>C, NM_052989.2:c.1148-7T>C, NM_052990.1:c.815-7T>C, NM_052990.2:c.815-7T>C, XM_005247600.1:c.1301-7T>C, XM_005247601.1:c.1301-7T>C, XM_005247602.1:c.1301-7T>C, XM_005247603.1:c.1148-7T>C, XM_005247604.1:c.1148-7T>C, XM_005247605.1:c.1301-7T>C, XM_005247606.1:c.1124-7T>C, XM_005247607.1:c.992-7T>C, XM_005247608.1:c.971-7T>C, XM_005247609.1:c.971-7T>C, XM_005247610.1:c.971-7T>C, XM_005247611.1:c.815-7T>C, XM_005247612.1:c.830-7T>C, XM_005247613.1:c.698-7T>C, XM_005247614.1:c.668-7T>C, XM_005247615.1:c.521-7T>CVOUS11/08/2016
15IFT122Ex13NM_052985.3:c.1301-1G>CNM_001280541.1:c.1124-1G>C, NM_001280545.1:c.698-1G>C, NM_001280546.1:c.521-1G>C, NM_018262.2:c.971-1G>C, NM_018262.3:c.971-1G>C, NM_052985.1:c.1301-1G>C, NM_052985.2:c.1301-1G>C, NM_052985.3:c.1301-1G>C, NM_052989.1:c.1148-1G>C, NM_052989.2:c.1148-1G>C, NM_052990.1:c.815-1G>C, NM_052990.2:c.815-1G>C, XM_005247600.1:c.1301-1G>C, XM_005247601.1:c.1301-1G>C, XM_005247602.1:c.1301-1G>C, XM_005247603.1:c.1148-1G>C, XM_005247604.1:c.1148-1G>C, XM_005247605.1:c.1301-1G>C, XM_005247606.1:c.1124-1G>C, XM_005247607.1:c.992-1G>C, XM_005247608.1:c.971-1G>C, XM_005247609.1:c.971-1G>C, XM_005247610.1:c.971-1G>C, XM_005247611.1:c.815-1G>C, XM_005247612.1:c.830-1G>C, XM_005247613.1:c.698-1G>C, XM_005247614.1:c.668-1G>C, XM_005247615.1:c.521-1G>CPathogenic08/09/2017 
16IFT122Ex13NM_052985.3:c.1426C>Tp.Arg476Trp | p.R476WNM_001280541.1:c.1249C>T, NM_001280545.1:c.823C>T, NM_001280546.1:c.646C>T, NM_018262.2:c.1096C>T, NM_018262.3:c.1096C>T, NM_052985.1:c.1426C>T, NM_052985.2:c.1426C>T, NM_052985.3:c.1426C>T, NM_052989.1:c.1273C>T, NM_052989.2:c.1273C>T, NM_052990.1:c.940C>T, NM_052990.2:c.940C>T, XM_005247600.1:c.1426C>T, XM_005247601.1:c.1426C>T, XM_005247602.1:c.1426C>T, XM_005247603.1:c.1273C>T, XM_005247604.1:c.1273C>T, XM_005247605.1:c.1426C>T, XM_005247606.1:c.1249C>T, XM_005247607.1:c.1117C>T, XM_005247608.1:c.1096C>T, XM_005247609.1:c.1096C>T, XM_005247610.1:c.1096C>T, XM_005247611.1:c.940C>T, XM_005247612.1:c.955C>T, XM_005247613.1:c.823C>T, XM_005247614.1:c.793C>T, XM_005247615.1:c.646C>TLikely benign07/05/2016 
17IFT122Ex14NM_052985.3:c.1641+10C>TNM_001280541.1:c.1464+10C>T, NM_001280545.1:c.1038+10C>T, NM_001280546.1:c.861+10C>T, NM_018262.2:c.1311+10C>T, NM_018262.3:c.1311+10C>T, NM_052985.1:c.1641+10C>T, NM_052985.2:c.1641+10C>T, NM_052985.3:c.1641+10C>T, NM_052989.1:c.1488+10C>T, NM_052989.2:c.1488+10C>T, NM_052990.1:c.1155+10C>T, NM_052990.2:c.1155+10C>T, XM_005247600.1:c.1641+10C>T, XM_005247601.1:c.1641+10C>T, XM_005247602.1:c.1641+10C>T, XM_005247603.1:c.1488+10C>T, XM_005247604.1:c.1488+10C>T, XM_005247605.1:c.1641+10C>T, XM_005247606.1:c.1464+10C>T, XM_005247607.1:c.1332+10C>T, XM_005247608.1:c.1311+10C>T, XM_005247609.1:c.1311+10C>T, XM_005247610.1:c.1311+10C>T, XM_005247611.1:c.1155+10C>T, XM_005247612.1:c.1170+10C>T, XM_005247613.1:c.1038+10C>T, XM_005247614.1:c.1008+10C>T, XM_005247615.1:c.861+10C>TVOUS06/15/2018
18IFT122Ex15NM_052985.3:c.1679T>Cp.Val560Ala | p.V560ANM_001280541.1:c.1502T>C, NM_001280545.1:c.1076T>C, NM_001280546.1:c.899T>C, NM_018262.2:c.1349T>C, NM_018262.3:c.1349T>C, NM_052985.1:c.1679T>C, NM_052985.2:c.1679T>C, NM_052985.3:c.1679T>C, NM_052989.1:c.1526T>C, NM_052989.2:c.1526T>C, NM_052990.1:c.1193T>C, NM_052990.2:c.1193T>C, XM_005247600.1:c.1679T>C, XM_005247601.1:c.1679T>C, XM_005247602.1:c.1679T>C, XM_005247603.1:c.1526T>C, XM_005247604.1:c.1526T>C, XM_005247605.1:c.1679T>C, XM_005247606.1:c.1502T>C, XM_005247607.1:c.1370T>C, XM_005247608.1:c.1349T>C, XM_005247609.1:c.1349T>C, XM_005247610.1:c.1349T>C, XM_005247611.1:c.1193T>C, XM_005247612.1:c.1208T>C, XM_005247613.1:c.1076T>C, XM_005247614.1:c.1046T>C, XM_005247615.1:c.899T>CVOUS01/23/2018
19IFT122Ex15NM_052985.3:c.1763C>Tp.Thr588Ile | p.T588INM_001280541.1:c.1586C>T, NM_001280545.1:c.1160C>T, NM_001280546.1:c.983C>T, NM_018262.2:c.1433C>T, NM_018262.3:c.1433C>T, NM_052985.1:c.1763C>T, NM_052985.2:c.1763C>T, NM_052985.3:c.1763C>T, NM_052989.1:c.1610C>T, NM_052989.2:c.1610C>T, NM_052990.1:c.1277C>T, NM_052990.2:c.1277C>T, XM_005247600.1:c.1763C>T, XM_005247601.1:c.1763C>T, XM_005247602.1:c.1763C>T, XM_005247603.1:c.1610C>T, XM_005247604.1:c.1610C>T, XM_005247605.1:c.1763C>T, XM_005247606.1:c.1586C>T, XM_005247607.1:c.1454C>T, XM_005247608.1:c.1433C>T, XM_005247609.1:c.1433C>T, XM_005247610.1:c.1433C>T, XM_005247611.1:c.1277C>T, XM_005247612.1:c.1292C>T, XM_005247613.1:c.1160C>T, XM_005247614.1:c.1130C>T, XM_005247615.1:c.983C>TVOUS07/14/2019
20IFT122Ex17NM_052985.3:c.2129T>Cp.Phe710Ser | p.F710SNM_001280541.1:c.1952T>C, NM_001280545.1:c.1526T>C, NM_001280546.1:c.1349T>C, NM_018262.2:c.1799T>C, NM_018262.3:c.1799T>C, NM_052985.1:c.2129T>C, NM_052985.2:c.2129T>C, NM_052985.3:c.2129T>C, NM_052989.1:c.1976T>C, NM_052989.2:c.1976T>C, NM_052990.1:c.1643T>C, NM_052990.2:c.1643T>C, XM_005247600.1:c.2129T>C, XM_005247601.1:c.2129T>C, XM_005247602.1:c.2129T>C, XM_005247603.1:c.1976T>C, XM_005247604.1:c.1976T>C, XM_005247605.1:c.2129T>C, XM_005247606.1:c.1952T>C, XM_005247607.1:c.1820T>C, XM_005247608.1:c.1799T>C, XM_005247609.1:c.1799T>C, XM_005247610.1:c.1799T>C, XM_005247611.1:c.1643T>C, XM_005247612.1:c.1658T>C, XM_005247613.1:c.1526T>C, XM_005247614.1:c.1496T>C, XM_005247615.1:c.1349T>CVOUS10/07/2016
21IFT122Ex17NM_052985.3:c.2145+7A>GNM_001280541.1:c.1968+7A>G, NM_001280545.1:c.1542+7A>G, NM_001280546.1:c.1365+7A>G, NM_018262.2:c.1815+7A>G, NM_018262.3:c.1815+7A>G, NM_052985.1:c.2145+7A>G, NM_052985.2:c.2145+7A>G, NM_052985.3:c.2145+7A>G, NM_052989.1:c.1992+7A>G, NM_052989.2:c.1992+7A>G, NM_052990.1:c.1659+7A>G, NM_052990.2:c.1659+7A>G, XM_005247600.1:c.2145+7A>G, XM_005247601.1:c.2145+7A>G, XM_005247602.1:c.2145+7A>G, XM_005247603.1:c.1992+7A>G, XM_005247604.1:c.1992+7A>G, XM_005247605.1:c.2145+7A>G, XM_005247606.1:c.1968+7A>G, XM_005247607.1:c.1836+7A>G, XM_005247608.1:c.1815+7A>G, XM_005247609.1:c.1815+7A>G, XM_005247610.1:c.1815+7A>G, XM_005247611.1:c.1659+7A>G, XM_005247612.1:c.1674+7A>G, XM_005247613.1:c.1542+7A>G, XM_005247614.1:c.1512+7A>G, XM_005247615.1:c.1365+7A>GVOUS10/21/2014
22IFT122Ex18NM_052985.3:c.2146-7G>CNM_001280541.1:c.1969-7G>C, NM_001280545.1:c.1543-7G>C, NM_001280546.1:c.1366-7G>C, NM_018262.2:c.1816-7G>C, NM_018262.3:c.1816-7G>C, NM_052985.1:c.2146-7G>C, NM_052985.2:c.2146-7G>C, NM_052985.3:c.2146-7G>C, NM_052989.1:c.1993-7G>C, NM_052989.2:c.1993-7G>C, NM_052990.1:c.1660-7G>C, NM_052990.2:c.1660-7G>C, XM_005247600.1:c.2146-7G>C, XM_005247601.1:c.2146-7G>C, XM_005247602.1:c.2146-3312G>C, XM_005247603.1:c.1993-7G>C, XM_005247604.1:c.1993-7G>C, XM_005247605.1:c.2146-7G>C, XM_005247606.1:c.1969-7G>C, XM_005247607.1:c.1837-7G>C, XM_005247608.1:c.1816-7G>C, XM_005247609.1:c.1816-7G>C, XM_005247610.1:c.1816-7G>C, XM_005247611.1:c.1660-7G>C, XM_005247612.1:c.1675-3312G>C, XM_005247613.1:c.1543-7G>C, XM_005247614.1:c.1513-7G>C, XM_005247615.1:c.1366-7G>CBenign06/09/2015 
23IFT122Ex18NM_052985.3:c.2188delAp.Ser730Alafs*72 | p.S730AfsX72NM_001280541.1:c.2011delA, NM_001280545.1:c.1585delA, NM_001280546.1:c.1408delA, NM_018262.2:c.1858delA, NM_018262.3:c.1858delA, NM_052985.1:c.2188delA, NM_052985.2:c.2188delA, NM_052985.3:c.2188delA, NM_052989.1:c.2035delA, NM_052989.2:c.2035delA, NM_052990.1:c.1702delA, NM_052990.2:c.1702delA, XM_005247600.1:c.2188delA, XM_005247601.1:c.2188delA, XM_005247602.1:c.2146-3263delA, XM_005247603.1:c.2035delA, XM_005247604.1:c.2035delA, XM_005247605.1:c.2188delA, XM_005247606.1:c.2011delA, XM_005247607.1:c.1879delA, XM_005247608.1:c.1858delA, XM_005247609.1:c.1858delA, XM_005247610.1:c.1858delA, XM_005247611.1:c.1702delA, XM_005247612.1:c.1675-3263delA, XM_005247613.1:c.1585delA, XM_005247614.1:c.1555delA, XM_005247615.1:c.1408delAPathogenic11/21/2017 
24IFT122Ex20NM_052985.3:c.2398A>Tp.Met800Leu | p.M800LNM_001280541.1:c.2221A>T, NM_001280545.1:c.1795A>T, NM_001280546.1:c.1618A>T, NM_018262.2:c.2068A>T, NM_018262.3:c.2068A>T, NM_052985.1:c.2398A>T, NM_052985.2:c.2398A>T, NM_052985.3:c.2398A>T, NM_052989.1:c.2245A>T, NM_052989.2:c.2245A>T, NM_052990.1:c.1912A>T, NM_052990.2:c.1912A>T, XM_005247600.1:c.2398A>T, XM_005247601.1:c.2398A>T, XM_005247602.1:c.2344A>T, XM_005247603.1:c.2245A>T, XM_005247604.1:c.2245A>T, XM_005247605.1:c.2236A>T, XM_005247606.1:c.2221A>T, XM_005247607.1:c.2089A>T, XM_005247608.1:c.2068A>T, XM_005247609.1:c.2068A>T, XM_005247610.1:c.2068A>T, XM_005247611.1:c.1912A>T, XM_005247612.1:c.1873A>T, XM_005247613.1:c.1795A>T, XM_005247614.1:c.1765A>T, XM_005247615.1:c.1618A>TVOUS10/29/2014
25IFT122Ex23NM_052985.3:c.2873C>Tp.Ala958Val | p.A958VNM_001280541.1:c.2696C>T, NM_001280545.1:c.2270C>T, NM_001280546.1:c.2093C>T, NM_018262.2:c.2543C>T, NM_018262.3:c.2543C>T, NM_052985.1:c.2873C>T, NM_052985.2:c.2873C>T, NM_052985.3:c.2873C>T, NM_052989.1:c.2720C>T, NM_052989.2:c.2720C>T, NM_052990.1:c.2387C>T, NM_052990.2:c.2387C>T, XM_005247600.1:c.2873C>T, XM_005247601.1:c.2873C>T, XM_005247602.1:c.2819C>T, XM_005247603.1:c.2720C>T, XM_005247604.1:c.2720C>T, XM_005247605.1:c.2711C>T, XM_005247606.1:c.2696C>T, XM_005247607.1:c.2564C>T, XM_005247608.1:c.2543C>T, XM_005247609.1:c.2543C>T, XM_005247610.1:c.2543C>T, XM_005247611.1:c.2387C>T, XM_005247612.1:c.2348C>T, XM_005247613.1:c.2270C>T, XM_005247614.1:c.2240C>T, XM_005247615.1:c.2093C>TVOUS04/22/2015
26IFT122Ex23NM_052985.3:c.2874G>Ap.Ala958= | p.A958=NM_001280541.1:c.2697G>A, NM_001280545.1:c.2271G>A, NM_001280546.1:c.2094G>A, NM_018262.2:c.2544G>A, NM_018262.3:c.2544G>A, NM_052985.1:c.2874G>A, NM_052985.2:c.2874G>A, NM_052985.3:c.2874G>A, NM_052989.1:c.2721G>A, NM_052989.2:c.2721G>A, NM_052990.1:c.2388G>A, NM_052990.2:c.2388G>A, XM_005247600.1:c.2874G>A, XM_005247601.1:c.2874G>A, XM_005247602.1:c.2820G>A, XM_005247603.1:c.2721G>A, XM_005247604.1:c.2721G>A, XM_005247605.1:c.2712G>A, XM_005247606.1:c.2697G>A, XM_005247607.1:c.2565G>A, XM_005247608.1:c.2544G>A, XM_005247609.1:c.2544G>A, XM_005247610.1:c.2544G>A, XM_005247611.1:c.2388G>A, XM_005247612.1:c.2349G>A, XM_005247613.1:c.2271G>A, XM_005247614.1:c.2241G>A, XM_005247615.1:c.2094G>AVOUS04/02/2015
27IFT122Ex23NM_052985.3:c.2902T>Gp.Tyr968Asp | p.Y968DNM_001280541.1:c.2725T>G, NM_001280545.1:c.2299T>G, NM_001280546.1:c.2122T>G, NM_018262.2:c.2572T>G, NM_018262.3:c.2572T>G, NM_052985.1:c.2902T>G, NM_052985.2:c.2902T>G, NM_052985.3:c.2902T>G, NM_052989.1:c.2749T>G, NM_052989.2:c.2749T>G, NM_052990.1:c.2416T>G, NM_052990.2:c.2416T>G, XM_005247600.1:c.2902T>G, XM_005247601.1:c.2902T>G, XM_005247602.1:c.2848T>G, XM_005247603.1:c.2749T>G, XM_005247604.1:c.2749T>G, XM_005247605.1:c.2740T>G, XM_005247606.1:c.2725T>G, XM_005247607.1:c.2593T>G, XM_005247608.1:c.2572T>G, XM_005247609.1:c.2572T>G, XM_005247610.1:c.2572T>G, XM_005247611.1:c.2416T>G, XM_005247612.1:c.2377T>G, XM_005247613.1:c.2299T>G, XM_005247614.1:c.2269T>G, XM_005247615.1:c.2122T>GVOUS01/24/2018
28IFT122Ex25NM_052985.3:c.3094C>Tp.Leu1032= | p.L1032=NM_001280541.1:c.2920C>T, NM_001280545.1:c.2491C>T, NM_001280546.1:c.2314C>T, NM_018262.2:c.2764C>T, NM_018262.3:c.2764C>T, NM_052985.1:c.3094C>T, NM_052985.2:c.3094C>T, NM_052985.3:c.3094C>T, NM_052989.1:c.2941C>T, NM_052989.2:c.2941C>T, NM_052990.1:c.2611C>T, NM_052990.2:c.2611C>T, XM_005247600.1:c.3097C>T, XM_005247601.1:c.3094C>T, XM_005247602.1:c.3043C>T, XM_005247603.1:c.2944C>T, XM_005247604.1:c.2941C>T, XM_005247605.1:c.2932C>T, XM_005247606.1:c.2917C>T, XM_005247607.1:c.2788C>T, XM_005247608.1:c.2767C>T, XM_005247609.1:c.2767C>T, XM_005247610.1:c.2764C>T, XM_005247611.1:c.2611C>T, XM_005247612.1:c.2572C>T, XM_005247613.1:c.2494C>T, XM_005247614.1:c.2464C>T, XM_005247615.1:c.2317C>TVOUS11/01/2018
29IFT122Ex26NM_052985.3:c.3176C>Tp.Ala1059Val | p.A1059VNM_001280541.1:c.3002C>T, NM_001280545.1:c.2573C>T, NM_001280546.1:c.2396C>T, NM_018262.2:c.2846C>T, NM_018262.3:c.2846C>T, NM_052985.1:c.3176C>T, NM_052985.2:c.3176C>T, NM_052985.3:c.3176C>T, NM_052989.1:c.3023C>T, NM_052989.2:c.3023C>T, NM_052990.1:c.2693C>T, NM_052990.2:c.2693C>T, XM_005247600.1:c.3179C>T, XM_005247601.1:c.3179C>T, XM_005247602.1:c.3125C>T, XM_005247603.1:c.3029C>T, XM_005247604.1:c.3026C>T, XM_005247605.1:c.3014C>T, XM_005247606.1:c.2999C>T, XM_005247607.1:c.2873C>T, XM_005247608.1:c.2852C>T, XM_005247609.1:c.2849C>T, XM_005247610.1:c.2849C>T, XM_005247611.1:c.2696C>T, XM_005247612.1:c.2654C>T, XM_005247613.1:c.2579C>T, XM_005247614.1:c.2549C>T, XM_005247615.1:c.2402C>TVOUS01/26/2017
30IFT122Ex26NM_052985.3:c.3282C>Tp.Arg1094= | p.R1094=NM_001280541.1:c.3108C>T, NM_001280545.1:c.2679C>T, NM_001280546.1:c.2502C>T, NM_018262.2:c.2952C>T, NM_018262.3:c.2952C>T, NM_052985.1:c.3282C>T, NM_052985.2:c.3282C>T, NM_052985.3:c.3282C>T, NM_052989.1:c.3129C>T, NM_052989.2:c.3129C>T, NM_052990.1:c.2799C>T, NM_052990.2:c.2799C>T, XM_005247600.1:c.3285C>T, XM_005247601.1:c.3285C>T, XM_005247602.1:c.3231C>T, XM_005247603.1:c.3135C>T, XM_005247604.1:c.3132C>T, XM_005247605.1:c.3120C>T, XM_005247606.1:c.3105C>T, XM_005247607.1:c.2979C>T, XM_005247608.1:c.2958C>T, XM_005247609.1:c.2955C>T, XM_005247610.1:c.2955C>T, XM_005247611.1:c.2802C>T, XM_005247612.1:c.2760C>T, XM_005247613.1:c.2685C>T, XM_005247614.1:c.2655C>T, XM_005247615.1:c.2508C>TLikely benign05/02/2016 
31IFT122Ex27NM_052985.3:c.3397A>Gp.Ile1133Val | p.I1133VNM_001280541.1:c.3223A>G, NM_001280545.1:c.2794A>G, NM_001280546.1:c.2617A>G, NM_018262.2:c.3067A>G, NM_018262.3:c.3067A>G, NM_052985.1:c.3397A>G, NM_052985.2:c.3397A>G, NM_052985.3:c.3397A>G, NM_052989.1:c.3244A>G, NM_052989.2:c.3244A>G, NM_052990.1:c.2914A>G, NM_052990.2:c.2914A>G, XM_005247600.1:c.3400A>G, XM_005247601.1:c.3400A>G, XM_005247602.1:c.3346A>G, XM_005247603.1:c.3250A>G, XM_005247604.1:c.3247A>G, XM_005247605.1:c.3235A>G, XM_005247606.1:c.3220A>G, XM_005247607.1:c.3094A>G, XM_005247608.1:c.3073A>G, XM_005247609.1:c.3070A>G, XM_005247610.1:c.3070A>G, XM_005247611.1:c.2917A>G, XM_005247612.1:c.2875A>G, XM_005247613.1:c.2800A>G, XM_005247614.1:c.2770A>G, XM_005247615.1:c.2623A>GBenign01/17/2015 
32IFT122Ex29NM_052985.3:c.3600G>Ap.Pro1200= | p.P1200=NM_001280541.1:c.3426G>A, NM_001280545.1:c.2997G>A, NM_001280546.1:c.2820G>A, NM_018262.2:c.3270G>A, NM_018262.3:c.3270G>A, NM_052985.1:c.3600G>A, NM_052985.2:c.3600G>A, NM_052985.3:c.3600G>A, NM_052989.1:c.3447G>A, NM_052989.2:c.3447G>A, NM_052990.1:c.3117G>A, NM_052990.2:c.3117G>A, XM_005247600.1:c.3603G>A, XM_005247601.1:c.3603G>A, XM_005247602.1:c.3549G>A, XM_005247603.1:c.3453G>A, XM_005247604.1:c.3450G>A, XM_005247605.1:c.3438G>A, XM_005247606.1:c.3423G>A, XM_005247607.1:c.3297G>A, XM_005247608.1:c.3276G>A, XM_005247609.1:c.3273G>A, XM_005247610.1:c.3273G>A, XM_005247611.1:c.3120G>A, XM_005247612.1:c.3078G>A, XM_005247613.1:c.3003G>A, XM_005247614.1:c.2973G>A, XM_005247615.1:c.2826G>AVOUS10/29/2018
33IFT122Ex30NM_052985.3:c.3640T>Ap.Phe1214Ile | p.F1214INM_001280541.1:c.3466T>A, NM_001280545.1:c.3037T>A, NM_001280546.1:c.2860T>A, NM_018262.2:c.3310T>A, NM_018262.3:c.3310T>A, NM_052985.1:c.3640T>A, NM_052985.2:c.3640T>A, NM_052985.3:c.3640T>A, NM_052989.1:c.3487T>A, NM_052989.2:c.3487T>A, NM_052990.1:c.3157T>A, NM_052990.2:c.3157T>A, XM_005247600.1:c.3643T>A, XM_005247601.1:c.3643T>A, XM_005247602.1:c.3589T>A, XM_005247603.1:c.3493T>A, XM_005247604.1:c.3490T>A, XM_005247605.1:c.3478T>A, XM_005247606.1:c.3463T>A, XM_005247607.1:c.3337T>A, XM_005247608.1:c.3316T>A, XM_005247609.1:c.3313T>A, XM_005247610.1:c.3313T>A, XM_005247611.1:c.3160T>A, XM_005247612.1:c.3118T>A, XM_005247613.1:c.3043T>A, XM_005247614.1:c.3013T>A, XM_005247615.1:c.2866T>AVOUS07/02/2020
34IFT122Ex30NM_052985.3:c.3699C>Tp.Leu1233= | p.L1233=NM_001280541.1:c.3525C>T, NM_001280545.1:c.3096C>T, NM_001280546.1:c.2919C>T, NM_018262.2:c.3369C>T, NM_018262.3:c.3369C>T, NM_052985.1:c.3699C>T, NM_052985.2:c.3699C>T, NM_052985.3:c.3699C>T, NM_052989.1:c.3546C>T, NM_052989.2:c.3546C>T, NM_052990.1:c.3216C>T, NM_052990.2:c.3216C>T, XM_005247600.1:c.3702C>T, XM_005247601.1:c.3702C>T, XM_005247602.1:c.3648C>T, XM_005247603.1:c.3552C>T, XM_005247604.1:c.3549C>T, XM_005247605.1:c.3537C>T, XM_005247606.1:c.3522C>T, XM_005247607.1:c.3396C>T, XM_005247608.1:c.3375C>T, XM_005247609.1:c.3372C>T, XM_005247610.1:c.3372C>T, XM_005247611.1:c.3219C>T, XM_005247612.1:c.3177C>T, XM_005247613.1:c.3102C>T, XM_005247614.1:c.3072C>T, XM_005247615.1:c.2925C>TVOUS11/03/2014
35IFT122Ex30NM_052985.3:c.3706C>Tp.Arg1236* | p.R1236XNM_001280541.1:c.3532C>T, NM_001280545.1:c.3103C>T, NM_001280546.1:c.2926C>T, NM_018262.2:c.3376C>T, NM_018262.3:c.3376C>T, NM_052985.1:c.3706C>T, NM_052985.2:c.3706C>T, NM_052985.3:c.3706C>T, NM_052989.1:c.3553C>T, NM_052989.2:c.3553C>T, NM_052990.1:c.3223C>T, NM_052990.2:c.3223C>T, XM_005247600.1:c.3709C>T, XM_005247601.1:c.3709C>T, XM_005247602.1:c.3655C>T, XM_005247603.1:c.3559C>T, XM_005247604.1:c.3556C>T, XM_005247605.1:c.3544C>T, XM_005247606.1:c.3529C>T, XM_005247607.1:c.3403C>T, XM_005247608.1:c.3382C>T, XM_005247609.1:c.3379C>T, XM_005247610.1:c.3379C>T, XM_005247611.1:c.3226C>T, XM_005247612.1:c.3184C>T, XM_005247613.1:c.3109C>T, XM_005247614.1:c.3079C>T, XM_005247615.1:c.2932C>TLikely pathogenic08/23/2019 

* Review is pending
** Variant has not been reviewed since the launch of this product (6/15/2012)

URL Parameter Syntax

EmVClass may be automatically searched using the argument [approved_symbol] such as in the example link for the gene CFTR: https://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR

Download

EmVClass data for all genes and variants that have been seen and analyzed by NTD Genetics may be downloaded as a CSV plain text file which is designated to be updated quarterly. Data is subject to change and format is subject to modification.

EmVClass.2021-Q4.csv

Disclaimer

The interpretation of nucleotide changes is based on our current understanding of the variant at the time it was observed in a clinical case. Interpretations may not be current. Some data may not be represented. These interpretations may change over time as more information about the genes becomes available. The data presented here are not intended for clinical use outside of the context of an official NTD Genetics clinical report and should be approached with caution. Only variants identified at NTD Genetics are listed in the EmVClass. If you intend to use NTD Genetics' classification for publication purposes please contact the laboratory for permission.