Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_022124.5(CDH23):c.146-2A>G | -1 | - | Pathogenic | 794727649 | RCV000178332; | N | MedGen:C1832845,OMIM:601067 | 10 | 73269837 | 73269837 | NM_022124.5:c.146-2A>G | | NC_000010.10:g.73269837A>G | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.193delC (p.Leu65Trpfs) | -1 | - | Pathogenic | 796051861 | RCV000005207; RCV000005208; RCV000215123; | N | MedGen:C1568247,OMIM:276900; MedGen:C1832845,OMIM:601067; MedGen:C3276419 | 10 | 73269886 | 73269886 | NM_022124.5:c.193delC | NP_071407.4:p.Leu65Trpfs | NC_000010.10:g.73269886delC | OMIM Allelic Variant:605516.0011 | C1568247 276900 Usher syndrome, type 1; C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.3481C>T (p.Arg1161Ter) | -1 | - | Pathogenic | 397517323 | RCV000039153; | N | MedGen:C1832845,OMIM:601067 | 10 | 73485179 | 73485179 | NM_022124.5:c.3481C>T | NP_071407.4:p.Arg1161Ter | NC_000010.10:g.73485179C>T | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.3625A>G (p.Thr1209Ala) | -1 | - | Benign;Pathogenic;Uncertain significance | 41281314 | RCV000005210; RCV000217147; RCV000086973; RCV000039159; | N | MedGen:C1568247,OMIM:276900; MedGen:C1832845,OMIM:601067; MedGen:CN169374; MedGen:CN221809 | 10 | 73490271 | 73490271 | NM_022124.5:c.3625A>G | NP_071407.4:p.Thr1209Ala | NC_000010.10:g.73490271A>G | OMIM Allelic Variant:605516.0013 | CN221809 not provided; CN169374 not specified; C1568247 276900 Usher syndrome, type 1; C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.3628C>T (p.Gln1210Ter) | -1 | - | Pathogenic | 397517326 | RCV000039160; | N | MedGen:C1832845,OMIM:601067 | 10 | 73490274 | 73490274 | NM_022124.5:c.3628C>T | NP_071407.4:p.Gln1210Ter | NC_000010.10:g.73490274C>T | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.3706C>T (p.Arg1236Ter) | -1 | - | Pathogenic | 397517327 | RCV000039163; | N | MedGen:C1832845,OMIM:601067 | 10 | 73490352 | 73490352 | NM_022124.5:c.3706C>T | NP_071407.4:p.Arg1236Ter | NC_000010.10:g.73490352C>T | - | C1832845 601067 Usher syndrome, type 1D | | |
NC_000010.11:g.(?_71731987)_(71734281_?)del | -1 | - | Pathogenic | -1 | RCV000156137; | N | MedGen:C1832845,OMIM:601067 | 10 | 73491744 | 73494038 | - | - | | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.3842_3844delTGA (p.Met1281del) | -1 | - | Pathogenic | 796051860 | RCV000005199; | N | MedGen:C1832845,OMIM:601067 | 10 | 73491870 | 73491872 | NM_022124.5:c.3842_3844delTGA | NP_071407.4:p.Met1281del | NC_000010.10:g.73491870_73491872delTGA | OMIM Allelic Variant:605516.0003 | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.3880C>T (p.Gln1294Ter) | -1 | - | Pathogenic | 121908350 | RCV000005203; | N | MedGen:C1832845,OMIM:601067 | 10 | 73491908 | 73491908 | NM_022124.5:c.3880C>T | NP_071407.4:p.Gln1294Ter | NC_000010.10:g.73491908C>T | OMIM Allelic Variant:605516.0007 | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.3929C>A (p.Ala1310Asp) | -1 | - | Uncertain significance | 483353051 | RCV000119815; | N | MedGen:C1832845,OMIM:601067 | 10 | 73491957 | 73491957 | NM_022124.5:c.3929C>A | NP_071407.4:p.Ala1310Asp | NC_000010.10:g.73491957C>A | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.4104+4A>T | -1 | - | Uncertain significance | 483353052 | RCV000119816; | N | MedGen:C1832845,OMIM:601067 | 10 | 73492136 | 73492136 | NM_022124.5:c.4104+4A>T | | NC_000010.10:g.73492136A>T | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.4209+1G>T | -1 | - | Pathogenic | 727503841 | RCV000177808; RCV000152948; | N | MedGen:C1832845,OMIM:601067; MedGen:CN221809 | 10 | 73494416 | 73494416 | NM_022124.5:c.4209+1G>T | | NC_000010.10:g.73494416G>T | - | CN221809 not provided; C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.46delG (p.Val16Cysfs) | 64072 | CDH23 | Pathogenic | 397517331 | RCV000039188; | N | MedGen:C1832845,OMIM:601067 | 10 | 73199634 | 73199634 | NM_022124.5:c.46delG | NP_071407.4:p.Val16Cysfs | NC_000010.10:g.73199634delG | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.945+1G>T | 64072 | CDH23 | Pathogenic | 727502919 | RCV000150272; | N | MedGen:C1832845,OMIM:601067 | 10 | 73375374 | 73375374 | NM_022124.5:c.945+1G>T | | NC_000010.10:g.73375374G>T | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.1369C>T (p.Arg457Trp) | 64072 | CDH23 | Likely pathogenic | 727504455 | RCV000155432; | N | MedGen:C1832845,OMIM:601067 | 10 | 73406294 | 73406294 | NM_022124.5:c.1369C>T | NP_071407.4:p.Arg457Trp | NC_000010.10:g.73406294C>T | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_052836.3(CDH23):c.1450G>T (p.Val484Leu) | 64072 | CDH23 | Pathogenic | -1 | RCV000215736; | N | MedGen:C1832845,OMIM:601067 | 10 | 73406375 | 73406375 | NM_052836.3:c.1450G>T | NP_443068.1:p.Val484Leu | | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.1949dupC (p.Leu651Serfs) | 64072 | CDH23 | Pathogenic | -1 | RCV000218031; | N | MedGen:C1832845,OMIM:601067 | 10 | 73442292 | 73442292 | NM_022124.5:c.1949dupC | NP_071407.4:p.Leu651Serfs | | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.2012delT (p.Phe671Serfs) | 64072 | CDH23 | Pathogenic | 397517313 | RCV000039119; | N | MedGen:C1832845,OMIM:601067 | 10 | 73447429 | 73447429 | NM_022124.5:c.2012delT | NP_071407.4:p.Phe671Serfs | NC_000010.10:g.73447429delT | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.2701G>A (p.Glu901Lys) | 64072 | CDH23 | Likely pathogenic | -1 | RCV000220607; | N | MedGen:C1832845,OMIM:601067 | 10 | 73462419 | 73462419 | NM_022124.5:c.2701G>A | NP_071407.4:p.Glu901Lys | | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.4309C>T (p.Arg1437Ter) | 64072 | CDH23 | Pathogenic | 397517329 | RCV000039177; | N | MedGen:C1832845,OMIM:601067 | 10 | 73498354 | 73498354 | NM_022124.5:c.4309C>T | NP_071407.4:p.Arg1437Ter | NC_000010.10:g.73498354C>T | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.4488G>C (p.Gln1496His) | 64072 | CDH23 | Pathogenic | 121908347 | RCV000005197; | N | MedGen:C1832845,OMIM:601067 | 10 | 73499529 | 73499529 | NM_022124.5:c.4488G>C | NP_071407.4:p.Gln1496His | NC_000010.10:g.73499529G>C | OMIM Allelic Variant:605516.0001 | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.5237G>A (p.Arg1746Gln) | 64072 | CDH23 | Pathogenic | 111033270 | RCV000005198; | N | MedGen:C1832845,OMIM:601067 | 10 | 73539073 | 73539073 | NM_022124.5:c.5237G>A | NP_071407.4:p.Arg1746Gln | NC_000010.10:g.73539073G>A | OMIM Allelic Variant:605516.0002 | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.5272C>T (p.Gln1758Ter) | 64072 | CDH23 | Pathogenic | 397517337 | RCV000039207; | N | MedGen:C1832845,OMIM:601067 | 10 | 73539108 | 73539108 | NM_022124.5:c.5272C>T | NP_071407.4:p.Gln1758Ter | NC_000010.10:g.73539108C>T | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.5712G>A (p.Thr1904=) | 64072 | CDH23 | Pathogenic | 397517342 | RCV000039224; | N | MedGen:C1832845,OMIM:601067 | 10 | 73544857 | 73544857 | NM_022124.5:c.5712G>A | NP_071407.4:p.Thr1904= | NC_000010.10:g.73544857G>A | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.5712+1G>A | 64072 | CDH23 | Pathogenic | 397517341 | RCV000039223; | N | MedGen:C1832845,OMIM:601067 | 10 | 73544858 | 73544858 | NM_022124.5:c.5712+1G>A | | NC_000010.10:g.73544858G>A | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.5923+1G>A | 64072 | CDH23 | Pathogenic | 397517346 | RCV000039230; | N | MedGen:C1832845,OMIM:601067 | 10 | 73548800 | 73548800 | NM_022124.5:c.5923+1G>A | | NC_000010.10:g.73548800G>A | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.6049G>A (p.Gly2017Ser) | 64072 | CDH23 | Likely pathogenic | 183431253 | RCV000039235; | N | MedGen:C1832845,OMIM:601067 | 10 | 73550170 | 73550170 | NM_022124.5:c.6049G>A | NP_071407.4:p.Gly2017Ser | NC_000010.10:g.73550170G>A | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.6049+1G>A | 64072 | CDH23 | Pathogenic | 111033247 | RCV000039234; | N | MedGen:C1832845,OMIM:601067 | 10 | 73550171 | 73550171 | NM_022124.5:c.6049+1G>A | | NC_000010.10:g.73550171G>A | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.6050-9G>A | 64072 | CDH23 | Pathogenic | 367928692 | RCV000039236; | N | MedGen:C1832845,OMIM:601067 | 10 | 73550880 | 73550880 | NM_022124.5:c.6050-9G>A | | NC_000010.10:g.73550880G>A | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.6412delG (p.Glu2138Serfs) | 64072 | CDH23 | Likely pathogenic | 111033473 | RCV000039244; | N | MedGen:C1832845,OMIM:601067 | 10 | 73553097 | 73553097 | NM_022124.5:c.6412delG | NP_071407.4:p.Glu2138Serfs | NC_000010.10:g.73553097delG | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.6968delC (p.Pro2323Leufs) | 64072 | CDH23 | Pathogenic | 397517350 | RCV000039259; | N | MedGen:C1832845,OMIM:601067 | 10 | 73558249 | 73558249 | NM_022124.5:c.6968delC | NP_071407.4:p.Pro2323Leufs | NC_000010.10:g.73558249delC | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.7362G>A (p.Thr2454=) | 64072 | CDH23 | Likely pathogenic | 370983472 | RCV000039265; | N | MedGen:C1832845,OMIM:601067 | 10 | 73559386 | 73559386 | NM_022124.5:c.7362G>A | NP_071407.4:p.Thr2454= | NC_000010.10:g.73559386G>A | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.7362+5G>A | 64072 | CDH23 | Pathogenic | 727502931 | RCV000005200; | N | MedGen:C1832845,OMIM:601067 | 10 | 73559391 | 73559391 | NM_022124.5:c.7362+5G>A | | NC_000010.10:g.73559391G>A | OMIM Allelic Variant:605516.0004 | C1832845 601067 Usher syndrome, type 1D | | |
NG_008835.1:g.410951G>C | 64072 | CDH23 | Pathogenic | -1 | RCV000221407; | N | MedGen:C1832845,OMIM:601067 | 10 | 73562654 | 73562654 | NM_022124.5:c.7483-1G>C | | | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.7776G>A (p.Trp2592Ter) | 64072 | CDH23 | Pathogenic | 397517353 | RCV000039275; | N | MedGen:C1832845,OMIM:601067 | 10 | 73563081 | 73563081 | NM_022124.5:c.7776G>A | NP_071407.4:p.Trp2592Ter | NC_000010.10:g.73563081G>A | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.7873-2A>T | 64072 | CDH23 | Pathogenic | 727502933 | RCV000150322; | N | MedGen:C1832845,OMIM:601067 | 10 | 73565561 | 73565561 | NM_022124.5:c.7873-2A>T | | NC_000010.10:g.73565561A>T | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.7921G>C (p.Asp2641His) | 64072 | CDH23 | Likely pathogenic | 397517354 | RCV000039277; | N | MedGen:C1832845,OMIM:601067 | 10 | 73565611 | 73565611 | NM_022124.5:c.7921G>C | NP_071407.4:p.Asp2641His | NC_000010.10:g.73565611G>C | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.7979_7986delACTGGGAG (p.Asp2660Valfs) | 64072 | CDH23 | Pathogenic | 727504761 | RCV000156071; | N | MedGen:C1832845,OMIM:601067 | 10 | 73565669 | 73565676 | NM_022124.5:c.7979_7986delACTGGGAG | NP_071407.4:p.Asp2660Valfs | NC_000010.10:g.73565669_73565676delACTGGGAG | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.8781C>A (p.Tyr2927Ter) | 64072 | CDH23 | Pathogenic | 397517362 | RCV000039289; | N | MedGen:C1832845,OMIM:601067 | 10 | 73569635 | 73569635 | NM_022124.5:c.8781C>A | NP_071407.4:p.Tyr2927Ter | NC_000010.10:g.73569635C>A | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.9510+19_9510+25delGGCATCA | 64072 | CDH23 | Uncertain significance | 483353053 | RCV000119817; | N | MedGen:C1832845,OMIM:601067 | 10 | 73572385 | 73572391 | NM_022124.5:c.9510+19_9510+25delGGCATCA | | NC_000010.10:g.73572385_73572391delGGCATCA | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.9556C>T (p.Arg3186Ter) | 64072 | CDH23 | Pathogenic | 773464867 | RCV000214408; | N | MedGen:C1832845,OMIM:601067 | 10 | 73572570 | 73572570 | NM_022124.5:c.9556C>T | NP_071407.4:p.Arg3186Ter | NC_000010.10:g.73572570C>T | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_022124.5(CDH23):c.9629_9632delTCAA (p.Ile3210Argfs) | 64072 | CDH23 | Pathogenic | 397517367 | RCV000039314; | N | MedGen:C1832845,OMIM:601067 | 10 | 73572643 | 73572646 | NM_022124.5:c.9629_9632delTCAA | NP_071407.4:p.Ile3210Argfs | NC_000010.10:g.73572643_73572646delTCAA | - | C1832845 601067 Usher syndrome, type 1D | | |
NM_001142763.1(PCDH15):c.2986C>T (p.Arg996Ter) | 65217 | PCDH15 | Pathogenic | 754391973 | RCV000210315; | N | MedGen:C1832845,OMIM:601067 | 10 | 55721550 | 55721550 | NM_001142763.1:c.2986C>T | NP_001136235.1:p.Arg996Ter | NC_000010.10:g.55721550G>A | - | C1832845 601067 Usher syndrome, type 1D | | |