| Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_001195794.1(CLRN1):c.567T>G (p.Tyr189Ter) | 7401 | CLRN1 | Pathogenic | 121908140 | RCV000004642; | Y | MedGen:C1568248,OMIM:276902,ORPHA:231183 | 3 | 150645894 | 150645894 | NM_001195794.1:c.567T>G | NP_001182723.1:p.Tyr189Ter | NC_000003.11:g.150645894A>C | OMIM Allelic Variant:606397.0001 | C1568248 276902 Usher syndrome, type 3A | | |
| NM_174878.2(CLRN1):c.502dupA (p.Ile168Asnfs) | 7401 | CLRN1 | Likely pathogenic | 746523071 | RCV000169229; | N | MedGen:C1568248,OMIM:276902,ORPHA:231183 | 3 | 150645920 | 150645920 | NM_174878.2:c.502dupA | NP_777367.1:p.Ile168Asnfs | NC_000003.11:g.150645920dupT | - | C1568248 276902 Usher syndrome, type 3A | | |
| NM_001195794.1(CLRN1):c.488T>C (p.Leu163Pro) | 7401 | CLRN1 | Pathogenic | 121908142 | RCV000004646; | N | MedGen:C1568248,OMIM:276902,ORPHA:231183 | 3 | 150645973 | 150645973 | NM_001195794.1:c.488T>C | NP_001182723.1:p.Leu163Pro | NC_000003.11:g.150645973A>G | OMIM Allelic Variant:606397.0005 | C1568248 276902 Usher syndrome, type 3A | | |
| NM_174878.2(CLRN1):c.368C>A (p.Ala123Asp) | 7401 | CLRN1 | Likely pathogenic;Pathogenic | 374963432 | RCV000041436; | N | MedGen:C1568248,OMIM:276902,ORPHA:231183 | 3 | 150659434 | 150659434 | NM_174878.2:c.368C>A | NP_777367.1:p.Ala123Asp | NC_000003.11:g.150659434G>T | - | C1568248 276902 Usher syndrome, type 3A | | |
| NM_001195794.1(CLRN1):c.359T>A (p.Met120Lys) | 7401 | CLRN1 | Pathogenic | 121908141 | RCV000004643; | N | MedGen:C1568248,OMIM:276902,ORPHA:231183 | 3 | 150659443 | 150659443 | NM_001195794.1:c.359T>A | NP_001182723.1:p.Met120Lys | NC_000003.11:g.150659443A>T | OMIM Allelic Variant:606397.0002 | C1568248 276902 Usher syndrome, type 3A | | |
| NM_001195794.1(CLRN1):c.301_305delGTCAT (p.Val101Serfs) | 7401 | CLRN1 | Likely pathogenic;Pathogenic | 397517932 | RCV000041435; | N | MedGen:C1568248,OMIM:276902,ORPHA:231183 | 3 | 150659497 | 150659501 | NM_001195794.1:c.301_305delGTCAT | NP_001182723.1:p.Val101Serfs | NC_000003.11:g.150659497_150659501delATGAC | - | C1568248 276902 Usher syndrome, type 3A | | |
| NM_001195794.1(CLRN1):c.189C>A (p.Tyr63Ter) | 7401 | CLRN1 | Pathogenic | 111033267 | RCV000004647; | N | MedGen:C1568248,OMIM:276902,ORPHA:231183 | 3 | 150690307 | 150690307 | NM_001195794.1:c.189C>A | NP_001182723.1:p.Tyr63Ter | NC_000003.11:g.150690307G>T | OMIM Allelic Variant:606397.0006 | C1568248 276902 Usher syndrome, type 3A | | |
| NM_174878.2(CLRN1):c.149_152delCAGGinsTGTCCAAT (p.Ser50Leufs) | 7401 | CLRN1 | Likely pathogenic;Pathogenic | 786204428 | RCV000169027; | N | MedGen:C1568248,OMIM:276902,ORPHA:231183 | 3 | 150690344 | 150690347 | NM_174878.2:c.149_152delCAGGinsTGTCCAAT | NP_777367.1:p.Ser50Leufs | NC_000003.11:g.150690344_150690347delCCTGinsATTGGACA | - | C1568248 276902 Usher syndrome, type 3A | | |
| NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) | 7401 | CLRN1 | Pathogenic | 111033258 | RCV000004645; | Y | MedGen:C1568248,OMIM:276902,ORPHA:231183 | 3 | 150690352 | 150690352 | NM_001195794.1:c.144T>G | NP_001182723.1:p.Asn48Lys | NC_000003.11:g.150690352A>C | OMIM Allelic Variant:606397.0004 | C1568248 276902 Usher syndrome, type 3A | | |
| NM_001195794.1(CLRN1):c.127G>A (p.Gly43Arg) | 7401 | CLRN1 | Likely pathogenic | 111033434 | RCV000041430; | N | MedGen:C1568248,OMIM:276902,ORPHA:231183 | 3 | 150690369 | 150690369 | NM_001195794.1:c.127G>A | NP_001182723.1:p.Gly43Arg | NC_000003.11:g.150690369C>T | - | C1568248 276902 Usher syndrome, type 3A | | |
| NM_001195794.1(CLRN1):c.118T>G (p.Cys40Gly) | 7401 | CLRN1 | Pathogenic | 121908143 | RCV000004649; | N | MedGen:C1568248,OMIM:276902,ORPHA:231183 | 3 | 150690378 | 150690378 | NM_001195794.1:c.118T>G | NP_001182723.1:p.Cys40Gly | NC_000003.11:g.150690378A>C | OMIM Allelic Variant:606397.0008 | C1568248 276902 Usher syndrome, type 3A | | |
USHER SYNDROME, TYPE IIIA