Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_194248.2(OTOF):c.5960C>G (p.Pro1987Arg) | 9381 | OTOF | Pathogenic | 80356606 | RCV000021075; | N | MedGen:C1832828,OMIM:601071 | 2 | 26682927 | 26682927 | NM_194248.2:c.5960C>G | NP_919224.1:p.Pro1987Arg | NC_000002.11:g.26682927G>C | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.5816G>A (p.Arg1939Gln) | 9381 | OTOF | Pathogenic | 80356605 | RCV000021073; RCV000006510; | N | MedGen:C1832828,OMIM:601071; MedGen:CN043167 | 2 | 26683071 | 26683071 | NM_194248.2:c.5816G>A | NP_919224.1:p.Arg1939Gln | NC_000002.11:g.26683071C>T | OMIM Allelic Variant:603681.0007,OMIM Allelic Variant:603681.0012 | CN043167 Auditory neuropathy, autosomal recessive, 1; C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.5815C>T (p.Arg1939Trp) | 9381 | OTOF | Pathogenic | 368790049 | RCV000056053; | N | MedGen:C1832828,OMIM:601071 | 2 | 26683072 | 26683072 | NM_194248.2:c.5815C>T | NP_919224.1:p.Arg1939Trp | NC_000002.11:g.26683072G>A | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.5800dupC (p.Leu1934Profs) | 9381 | OTOF | Pathogenic | 397515609 | RCV000056052; | N | MedGen:C1832828,OMIM:601071 | 2 | 26683528 | 26683528 | NM_194248.2:c.5800dupC | NP_919224.1:p.Leu1934Profs | NC_000002.11:g.26683528dupG | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.5712+1G>A | 9381 | OTOF | Pathogenic | 80356604 | RCV000021072; | N | MedGen:C1832828,OMIM:601071 | 2 | 26683719 | 26683719 | NM_194248.2:c.5712+1G>A | | NC_000002.11:g.26683719C>T | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.5663G>A (p.Gly1888Asp) | 9381 | OTOF | Benign | 80356583 | RCV000021071; | N | MedGen:C1832828,OMIM:601071 | 2 | 26683769 | 26683769 | NM_194248.2:c.5663G>A | NP_919224.1:p.Gly1888Asp | NC_000002.11:g.26683769C>T | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.5655C>T (p.Arg1885=) | 9381 | OTOF | Benign | 45442103 | RCV000021070; RCV000041579; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26683777 | 26683777 | NM_194248.2:c.5655C>T | NP_919224.1:p.Arg1885= | NC_000002.11:g.26683777G>A | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.5567G>A (p.Arg1856Gln) | 9381 | OTOF | Pathogenic | 397515608 | RCV000056051; | N | MedGen:C1832828,OMIM:601071 | 2 | 26683865 | 26683865 | NM_194248.2:c.5567G>A | NP_919224.1:p.Arg1856Gln | NC_000002.11:g.26683865C>T | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.5473C>G (p.Pro1825Ala) | 9381 | OTOF | Pathogenic | 28937591 | RCV000006512; | N | MedGen:C1832828,OMIM:601071 | 2 | 26684624 | 26684624 | NM_194248.2:c.5473C>G | NP_919224.1:p.Pro1825Ala | NC_000002.11:g.26684624G>C | OMIM Allelic Variant:603681.0005 | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.5410_5412delGAG (p.Glu1804del) | 9381 | OTOF | Likely pathogenic;association | 397515607 | RCV000056050; RCV000211735; | N | MedGen:C1832828,OMIM:601071; MedGen:CN043648, Orphanet:ORPHA87884 | 2 | 26684685 | 26684687 | NM_194248.2:c.5410_5412delGAG | NP_919224.1:p.Glu1804del | NC_000002.11:g.26684685_26684687delCTC | - | C1832828 601071 Deafness, autosomal recessive 9; CN043648 Non-syndromic genetic deafness | | |
NM_194248.2(OTOF):c.5391C>T (p.Phe1797=) | 9381 | OTOF | Benign | 61747275 | RCV000021069; RCV000041572; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26684706 | 26684706 | NM_194248.2:c.5391C>T | NP_919224.1:p.Phe1797= | NC_000002.11:g.26684706G>A | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.5384T>G (p.Phe1795Cys) | 9381 | OTOF | Pathogenic | 397515606 | RCV000056049; | N | MedGen:C1832828,OMIM:601071 | 2 | 26684713 | 26684713 | NM_194248.2:c.5384T>G | NP_919224.1:p.Phe1795Cys | NC_000002.11:g.26684713A>C | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.5197G>A (p.Glu1733Lys) | 9381 | OTOF | Pathogenic | 397515605 | RCV000056048; | N | MedGen:C1832828,OMIM:601071 | 2 | 26685045 | 26685045 | NM_194248.2:c.5197G>A | NP_919224.1:p.Glu1733Lys | NC_000002.11:g.26685045C>T | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.5098G>C (p.Glu1700Gln) | 9381 | OTOF | Likely pathogenic;Pathogenic | 199766465 | RCV000056047; RCV000211734; RCV000195955; | N | MedGen:C1832828,OMIM:601071; MedGen:CN043648, Orphanet:ORPHA87884 | 2 | 26686837 | 26686837 | NM_194248.2:c.5098G>C | NP_919224.1:p.Glu1700Gln | NC_000002.11:g.26686837C>G | - | C1832828 601071 Deafness, autosomal recessive 9; CN043648 Non-syndromic genetic deafness | | |
NM_194248.2(OTOF):c.5098G>C (p.Glu1700Gln) | 9381 | OTOF | Likely pathogenic;Pathogenic | 199766465 | RCV000056047; RCV000211734; RCV000195955; | N | MedGen:C1832828,OMIM:601071; MedGen:CN043648, Orphanet:ORPHA87884 | 2 | 26686837 | 26686837 | NM_194248.2:c.5098G>C | NP_919224.1:p.Glu1700Gln | NC_000002.11:g.26686837C>G | - | C1832828 601071 Deafness, autosomal recessive 9; CN043648 Non-syndromic genetic deafness; CN169374 not specified | | |
NM_194248.2(OTOF):c.5011dupT (p.Trp1671Leufs) | 9381 | OTOF | Pathogenic | 397515604 | RCV000056046; | N | MedGen:C1832828,OMIM:601071 | 2 | 26686924 | 26686924 | NM_194248.2:c.5011dupT | NP_919224.1:p.Trp1671Leufs | NC_000002.11:g.26686924dupA | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.4960+1G>C | 9381 | OTOF | Pathogenic | 80356602 | RCV000021068; RCV000006514; | N | MedGen:C1832828,OMIM:601071; MedGen:CN043167 | 2 | 26687736 | 26687736 | NM_194248.2:c.4960+1G>C | | NC_000002.11:g.26687736C>G | OMIM Allelic Variant:603681.0008 | CN043167 Auditory neuropathy, autosomal recessive, 1; C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.4936C>T (p.Pro1646Ser) | 9381 | OTOF | Benign | 17005371 | RCV000021067; RCV000041556; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26687761 | 26687761 | NM_194248.2:c.4936C>T | NP_919224.1:p.Pro1646Ser | NC_000002.11:g.26687761G>A | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.4873G>A (p.Val1625Met) | 9381 | OTOF | Benign | 80356579 | RCV000021066; | N | MedGen:C1832828,OMIM:601071 | 2 | 26687824 | 26687824 | NM_194248.2:c.4873G>A | NP_919224.1:p.Val1625Met | NC_000002.11:g.26687824C>T | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.4819C>T (p.Arg1607Trp) | 9381 | OTOF | association | 397515603 | RCV000056045; | N | MedGen:C1832828,OMIM:601071 | 2 | 26687878 | 26687878 | NM_194248.2:c.4819C>T | NP_919224.1:p.Arg1607Trp | NC_000002.11:g.26687878G>A | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.4809C>A (p.Tyr1603Ter) | 9381 | OTOF | Pathogenic | 143939430 | RCV000056044; | N | MedGen:C1832828,OMIM:601071 | 2 | 26687888 | 26687888 | NM_194248.2:c.4809C>A | NP_919224.1:p.Tyr1603Ter | NC_000002.11:g.26687888G>T | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.4767C>T (p.Arg1589=) | 9381 | OTOF | Benign | 80356578 | RCV000021065; RCV000041551; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26688572 | 26688572 | NM_194248.2:c.4767C>T | NP_919224.1:p.Arg1589= | NC_000002.11:g.26688572G>A | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.4718T>C (p.Ile1573Thr) | 9381 | OTOF | Likely pathogenic;association | 111033405 | RCV000041550; RCV000211733; | N | MedGen:C1832828,OMIM:601071; MedGen:CN043648, Orphanet:ORPHA87884 | 2 | 26688621 | 26688621 | NM_194248.2:c.4718T>C | NP_919224.1:p.Ile1573Thr | NC_000002.11:g.26688621A>G | - | C1832828 601071 Deafness, autosomal recessive 9; CN043648 Non-syndromic genetic deafness | | |
NM_194248.2(OTOF):c.4677G>A (p.Val1559=) | 9381 | OTOF | Benign | 2272071 | RCV000021064; RCV000041549; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26688662 | 26688662 | NM_194248.2:c.4677G>A | NP_919224.1:p.Val1559= | NC_000002.11:g.26688662C>T | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.4559G>A (p.Arg1520Gln) | 9381 | OTOF | Pathogenic | 80356601 | RCV000021063; | N | MedGen:C1832828,OMIM:601071 | 2 | 26688886 | 26688886 | NM_194248.2:c.4559G>A | NP_919224.1:p.Arg1520Gln | NC_000002.11:g.26688886C>T | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.4500+2T>G | 9381 | OTOF | Pathogenic | 80356599 | RCV000021062; | N | MedGen:C1832828,OMIM:601071 | 2 | 26689580 | 26689580 | NM_194248.2:c.4500+2T>G | | NC_000002.11:g.26689580A>C | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.4491T>A (p.Tyr1497Ter) | 9381 | OTOF | Pathogenic | 80356600 | RCV000006507; RCV000219111; | N | MedGen:C1832828,OMIM:601071; MedGen:CN043648, Orphanet:ORPHA87884 | 2 | 26689591 | 26689591 | NM_194248.2:c.4491T>A | NP_919224.1:p.Tyr1497Ter | NC_000002.11:g.26689591A>T | OMIM Allelic Variant:603681.0001 | C1832828 601071 Deafness, autosomal recessive 9; CN043648 Non-syndromic genetic deafness | | |
NM_194248.2(OTOF):c.4483C>T (p.Arg1495Ter) | 9381 | OTOF | Pathogenic | 147321712 | RCV000056043; | N | MedGen:C1832828,OMIM:601071 | 2 | 26689599 | 26689599 | NM_194248.2:c.4483C>T | NP_919224.1:p.Arg1495Ter | NC_000002.11:g.26689599G>A,NC_000002.11:g.26689599G>T | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.4467dupC (p.Ile1490Hisfs) | 9381 | OTOF | association | 797044816 | RCV000192298; | N | MedGen:C1832828,OMIM:601071 | 2 | 26689615 | 26689615 | NM_194248.2:c.4467dupC | NP_919224.1:p.Ile1490Hisfs | NC_000002.11:g.26689615dupG | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.4351G>T (p.Gly1451Ter) | 9381 | OTOF | Pathogenic | 397515602 | RCV000056042; | N | MedGen:C1832828,OMIM:601071 | 2 | 26689978 | 26689978 | NM_194248.2:c.4351G>T | NP_919224.1:p.Gly1451Ter | NC_000002.11:g.26689978C>A | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.4275G>A (p.Trp1425Ter) | 9381 | OTOF | Pathogenic | 80356598 | RCV000021061; | N | MedGen:C1832828,OMIM:601071 | 2 | 26690054 | 26690054 | NM_194248.2:c.4275G>A | NP_919224.1:p.Trp1425Ter | NC_000002.11:g.26690054C>T | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.4227+1G>T | 9381 | OTOF | Pathogenic | 397515601 | RCV000056041; | N | MedGen:C1832828,OMIM:601071 | 2 | 26690232 | 26690232 | NM_194248.2:c.4227+1G>T | | NC_000002.11:g.26690232C>A | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.4157C>T (p.Thr1386Ile) | 9381 | OTOF | Pathogenic | 397515600 | RCV000056040; | N | MedGen:C1832828,OMIM:601071 | 2 | 26690303 | 26690303 | NM_194248.2:c.4157C>T | NP_919224.1:p.Thr1386Ile | NC_000002.11:g.26690303G>A | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.3966C>G (p.Asp1322Glu) | 9381 | OTOF | Benign;Uncertain significance | 80356576 | RCV000021060; RCV000041537; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26693518 | 26693518 | NM_194248.2:c.3966C>G | NP_919224.1:p.Asp1322Glu | NC_000002.11:g.26693518G>C | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.3928_3930dupAAG (p.Lys1310_Gly1311insLys) | 9381 | OTOF | Likely pathogenic;Uncertain significance | 768338261 | RCV000195955; RCV000214082; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26693554 | 26693556 | NM_194248.2:c.3928_3930dupAAG | NP_919224.1:p.Lys1310_Gly1311insLys | NC_000002.11:g.26693554_26693556dupCTT | - | C1832828 601071 Deafness, autosomal recessive 9; CN043648 Non-syndromic genetic deafness; CN169374 not specified | | |
NM_194248.2(OTOF):c.3928_3930dupAAG (p.Lys1310_Gly1311insLys) | 9381 | OTOF | Likely pathogenic;Uncertain significance | 768338261 | RCV000195955; RCV000214082; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26693554 | 26693556 | NM_194248.2:c.3928_3930dupAAG | NP_919224.1:p.Lys1310_Gly1311insLys | NC_000002.11:g.26693554_26693556dupCTT | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.3571-2A>C | 9381 | OTOF | Pathogenic | 80356597 | RCV000021058; | N | MedGen:C1832828,OMIM:601071 | 2 | 26696164 | 26696164 | NM_194248.2:c.3571-2A>C | | NC_000002.11:g.26696164T>G | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.3470G>A (p.Arg1157Gln) | 9381 | OTOF | Benign | 56054534 | RCV000021057; RCV000041522; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26696374 | 26696374 | NM_194248.2:c.3470G>A | NP_919224.1:p.Arg1157Gln | NC_000002.11:g.26696374C>T | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.3413T>C (p.Leu1138Pro) | 9381 | OTOF | Pathogenic | 397515599 | RCV000056038; | N | MedGen:C1832828,OMIM:601071 | 2 | 26696431 | 26696431 | NM_194248.2:c.3413T>C | NP_919224.1:p.Leu1138Pro | NC_000002.11:g.26696431A>G | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.3400C>T (p.Arg1134Ter) | 9381 | OTOF | Pathogenic | 199848801 | RCV000056037; | N | MedGen:C1832828,OMIM:601071 | 2 | 26696867 | 26696867 | NM_194248.2:c.3400C>T | NP_919224.1:p.Arg1134Ter | NC_000002.11:g.26696867G>A | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.3269C>A (p.Ala1090Glu) | 9381 | OTOF | Pathogenic | 370609551 | RCV000056036; | N | MedGen:C1832828,OMIM:601071 | 2 | 26697400 | 26697400 | NM_194248.2:c.3269C>A | NP_919224.1:p.Ala1090Glu | NC_000002.11:g.26697400G>T | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.3247G>C (p.Ala1083Pro) | 9381 | OTOF | Benign | 80356574 | RCV000021056; RCV000041520; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26697422 | 26697422 | NM_194248.2:c.3247G>C | NP_919224.1:p.Ala1083Pro | NC_000002.11:g.26697422C>G | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.3239G>C (p.Arg1080Pro) | 9381 | OTOF | Pathogenic | 397515598 | RCV000056035; | N | MedGen:C1832828,OMIM:601071 | 2 | 26697430 | 26697430 | NM_194248.2:c.3239G>C | NP_919224.1:p.Arg1080Pro | NC_000002.11:g.26697430C>G | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.3189G>A (p.Ala1063=) | 9381 | OTOF | Benign | 80356573 | RCV000021055; RCV000041519; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26697480 | 26697480 | NM_194248.2:c.3189G>A | NP_919224.1:p.Ala1063= | NC_000002.11:g.26697480C>T | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.3032T>C (p.Leu1011Pro) | 9381 | OTOF | Pathogenic | 80356596 | RCV000021054; RCV000006516; | N | MedGen:C1832828,OMIM:601071; MedGen:CN043167 | 2 | 26698321 | 26698321 | NM_194248.2:c.3032T>C | NP_919224.1:p.Leu1011Pro | NC_000002.11:g.26698321A>G | OMIM Allelic Variant:603681.0010 | CN043167 Auditory neuropathy, autosomal recessive, 1; C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.2991+1G>A | 9381 | OTOF | Pathogenic | 80356594 | RCV000021053; | N | MedGen:C1832828,OMIM:601071 | 2 | 26698781 | 26698781 | NM_194248.2:c.2991+1G>A | | NC_000002.11:g.26698781C>T | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.2977_2978delAG (p.Gln994Valfs) | 9381 | OTOF | Pathogenic;association | 397515597 | RCV000156627; RCV000211839; | N | MedGen:C1832828,OMIM:601071; MedGen:CN043648, Orphanet:ORPHA87884 | 2 | 26698795 | 26698796 | NM_194248.2:c.2977_2978delAG | NP_919224.1:p.Gln994Valfs | NC_000002.11:g.26698795_26698796delCT | - | C1832828 601071 Deafness, autosomal recessive 9; CN043648 Non-syndromic genetic deafness | | |
NM_194248.2(OTOF):c.2905_2923del19insCTCCGAGCGCA (p.Ala969Leufs) | 9381 | OTOF | Pathogenic | 397515596 | RCV000056033; | N | MedGen:C1832828,OMIM:601071 | 2 | 26698850 | 26698868 | NM_194248.2:c.2905_2923del19insCTCCGAGCGCA | NP_919224.1:p.Ala969Leufs | NC_000002.11:g.26698850_26698868del19insTGCGCTCGGAG | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.2891C>A (p.Ala964Glu) | 9381 | OTOF | Pathogenic | 201329629 | RCV000056032; | N | MedGen:C1832828,OMIM:601071 | 2 | 26698882 | 26698882 | NM_194248.2:c.2891C>A | NP_919224.1:p.Ala964Glu | NC_000002.11:g.26698882G>T | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.2887C>T (p.Arg963Ter) | 9381 | OTOF | Pathogenic | 80356595 | RCV000021052; | N | MedGen:C1832828,OMIM:601071 | 2 | 26698886 | 26698886 | NM_194248.2:c.2887C>T | NP_919224.1:p.Arg963Ter | NC_000002.11:g.26698886G>A | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.2736G>C (p.Leu912=) | 9381 | OTOF | Benign | 4335905 | RCV000021051; RCV000041509; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26699126 | 26699126 | NM_194248.2:c.2736G>C | NP_919224.1:p.Leu912= | NC_000002.11:g.26699126C>G | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.2732_2735dupAGCT (p.Tyr913Alafs) | 9381 | OTOF | Pathogenic | 397515595 | RCV000056031; | N | MedGen:C1832828,OMIM:601071 | 2 | 26699127 | 26699130 | NM_194248.2:c.2732_2735dupAGCT | NP_919224.1:p.Tyr913Alafs | NC_000002.11:g.26699127_26699130dupAGCT | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.2684_2685delGG (p.Gly895Glufs) | 9381 | OTOF | Pathogenic | 397515594 | RCV000056030; | N | MedGen:C1832828,OMIM:601071 | 2 | 26699177 | 26699178 | NM_194248.2:c.2684_2685delGG | NP_919224.1:p.Gly895Glufs | NC_000002.11:g.26699177_26699178delCC | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.2649C>A (p.Cys883Ter) | 9381 | OTOF | Pathogenic | 397515593 | RCV000056029; | N | MedGen:C1832828,OMIM:601071 | 2 | 26699786 | 26699786 | NM_194248.2:c.2649C>A | NP_919224.1:p.Cys883Ter | NC_000002.11:g.26699786G>T | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.2580C>G (p.Val860=) | 9381 | OTOF | Benign | 2272069 | RCV000021050; RCV000041505; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26699855 | 26699855 | NM_194248.2:c.2580C>G | NP_919224.1:p.Val860= | NC_000002.11:g.26699855G>C | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.2485C>T (p.Gln829Ter) | 9381 | OTOF | Pathogenic;association | 80356593 | RCV000006511; RCV000211838; | N | MedGen:C1832828,OMIM:601071; MedGen:CN043648, Orphanet:ORPHA87884 | 2 | 26700078 | 26700078 | NM_194248.2:c.2485C>T | NP_919224.1:p.Gln829Ter | NC_000002.11:g.26700078G>A | OMIM Allelic Variant:603681.0004 | C1832828 601071 Deafness, autosomal recessive 9; CN043648 Non-syndromic genetic deafness | | |
NM_194248.2(OTOF):c.2464C>T (p.Arg822Trp) | 9381 | OTOF | Benign | 80356570 | RCV000021049; RCV000041500; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26700099 | 26700099 | NM_194248.2:c.2464C>T | NP_919224.1:p.Arg822Trp | NC_000002.11:g.26700099G>A | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.2381G>A (p.Arg794His) | 9381 | OTOF | Likely benign;Pathogenic | 80356592 | RCV000021047; RCV000041494; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26700309 | 26700309 | NM_194248.2:c.2381G>A | NP_919224.1:p.Arg794His | NC_000002.11:g.26700309C>T | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.2348delG (p.Gly783Alafs) | 9381 | OTOF | Pathogenic | 80356591 | RCV000021046; RCV000211837; | N | MedGen:C1832828,OMIM:601071; MedGen:CN043648, Orphanet:ORPHA87884 | 2 | 26700342 | 26700342 | NM_194248.2:c.2348delG | NP_919224.1:p.Gly783Alafs | NC_000002.11:g.26700342delC | - | C1832828 601071 Deafness, autosomal recessive 9; CN043648 Non-syndromic genetic deafness | | |
NM_194248.2(OTOF):c.2317C>T (p.Arg773Cys) | 9381 | OTOF | Benign | 80356569 | RCV000021045; RCV000041489; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26700373 | 26700373 | NM_194248.2:c.2317C>T | NP_919224.1:p.Arg773Cys | NC_000002.11:g.26700373G>A | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.2316C>A (p.Cys772Ter) | 9381 | OTOF | Pathogenic | 397515592 | RCV000056028; | N | MedGen:C1832828,OMIM:601071 | 2 | 26700374 | 26700374 | NM_194248.2:c.2316C>A | NP_919224.1:p.Cys772Ter | NC_000002.11:g.26700374G>T | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.2239G>T (p.Glu747Ter) | 9381 | OTOF | Pathogenic | 397515591 | RCV000056026; RCV000211840; | N | MedGen:C1832828,OMIM:601071; MedGen:CN043648, Orphanet:ORPHA87884 | 2 | 26700593 | 26700593 | NM_194248.2:c.2239G>T | NP_919224.1:p.Glu747Ter | NC_000002.11:g.26700593C>A | - | C1832828 601071 Deafness, autosomal recessive 9; CN043648 Non-syndromic genetic deafness | | |
NM_194248.2(OTOF):c.2214+1G>T | 9381 | OTOF | Pathogenic | 80356589 | RCV000021044; | N | MedGen:C1832828,OMIM:601071 | 2 | 26702131 | 26702131 | NM_194248.2:c.2214+1G>T | | NC_000002.11:g.26702131C>A | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.2122C>T (p.Arg708Ter) | 9381 | OTOF | Pathogenic | 80356590 | RCV000021043; RCV000211836; | N | MedGen:C1832828,OMIM:601071; MedGen:CN043648, Orphanet:ORPHA87884 | 2 | 26702224 | 26702224 | NM_194248.2:c.2122C>T | NP_919224.1:p.Arg708Ter | NC_000002.11:g.26702224G>A | - | C1832828 601071 Deafness, autosomal recessive 9; CN043648 Non-syndromic genetic deafness | | |
NM_194248.2(OTOF):c.2034_2042dupTGCCGGGGA (p.Asp681_Leu682insAlaGlyAsp) | 9381 | OTOF | Uncertain significance | 794729640 | RCV000185541; | N | MedGen:C1832828,OMIM:601071 | 2 | 26702392 | 26702400 | NM_194248.2:c.2034_2042dupTGCCGGGGA | NP_919224.1:p.Asp681_Leu682insAlaGlyAsp | NC_000002.11:g.26702392_26702400dupTCCCCGGCA | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.2025G>A (p.Glu675=) | 9381 | OTOF | Benign | 61746988 | RCV000021042; RCV000041478; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26702409 | 26702409 | NM_194248.2:c.2025G>A | NP_919224.1:p.Glu675= | NC_000002.11:g.26702409C>T | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.2022C>T (p.Asp674=) | 9381 | OTOF | Benign | 13004993 | RCV000021041; RCV000041477; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26702412 | 26702412 | NM_194248.2:c.2022C>T | NP_919224.1:p.Asp674= | NC_000002.11:g.26702412G>A | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.1966delC (p.Arg656Glyfs) | 9381 | OTOF | Pathogenic | 397515590 | RCV000056025; | N | MedGen:C1832828,OMIM:601071 | 2 | 26702468 | 26702468 | NM_194248.2:c.1966delC | NP_919224.1:p.Arg656Glyfs | NC_000002.11:g.26702468delG | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.1926C>T (p.Asn642=) | 9381 | OTOF | Benign | 72853741 | RCV000021040; RCV000041473; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26702508 | 26702508 | NM_194248.2:c.1926C>T | NP_919224.1:p.Asn642= | NC_000002.11:g.26702508G>A | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.1886dupA (p.Pro630Alafs) | 9381 | OTOF | Pathogenic | 80356588 | RCV000021039; | N | MedGen:C1832828,OMIM:601071 | 2 | 26703097 | 26703097 | NM_194248.2:c.1886dupA | NP_919224.1:p.Pro630Alafs | NC_000002.11:g.26703097dupT | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.1841G>A (p.Gly614Glu) | 9381 | OTOF | Pathogenic | 397515589 | RCV000056023; | N | MedGen:C1832828,OMIM:601071 | 2 | 26703142 | 26703142 | NM_194248.2:c.1841G>A | NP_919224.1:p.Gly614Glu | NC_000002.11:g.26703142C>T | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.1780G>A (p.Glu594Lys) | 9381 | OTOF | Pathogenic | 397515588 | RCV000056022; | N | MedGen:C1832828,OMIM:601071 | 2 | 26703677 | 26703677 | NM_194248.2:c.1780G>A | NP_919224.1:p.Glu594Lys | NC_000002.11:g.26703677C>T | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.1740delC (p.Ser581Profs) | 9381 | OTOF | Pathogenic | 397515587 | RCV000056021; | N | MedGen:C1832828,OMIM:601071 | 2 | 26703717 | 26703717 | NM_194248.2:c.1740delC | NP_919224.1:p.Ser581Profs | NC_000002.11:g.26703717delG | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.1723G>A (p.Val575Met) | 9381 | OTOF | Benign | 55676840 | RCV000021038; RCV000041470; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26703734 | 26703734 | NM_194248.2:c.1723G>A | NP_919224.1:p.Val575Met | NC_000002.11:g.26703734C>T | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.1718T>G (p.Leu573Arg) | 9381 | OTOF | Pathogenic | 397515586 | RCV000056020; | N | MedGen:C1832828,OMIM:601071 | 2 | 26703739 | 26703739 | NM_194248.2:c.1718T>G | NP_919224.1:p.Leu573Arg | NC_000002.11:g.26703739A>C | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.1651delG (p.Glu551Serfs) | 9381 | OTOF | Pathogenic | 80356587 | RCV000021037; | N | MedGen:C1832828,OMIM:601071 | 2 | 26703806 | 26703806 | NM_194248.2:c.1651delG | NP_919224.1:p.Glu551Serfs | NC_000002.11:g.26703806delC | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.1621G>A (p.Gly541Ser) | 9381 | OTOF | Pathogenic | 397515435 | RCV000033199; | N | MedGen:C1832828,OMIM:601071 | 2 | 26703836 | 26703836 | NM_194248.2:c.1621G>A | NP_919224.1:p.Gly541Ser | NC_000002.11:g.26703836C>T | OMIM Allelic Variant:603681.0013 | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.1609delG (p.Val537Terfs) | 9381 | OTOF | Pathogenic | 397515585 | RCV000056019; | N | MedGen:C1832828,OMIM:601071 | 2 | 26703848 | 26703848 | NM_194248.2:c.1609delG | NP_919224.1:p.Val537Terfs | NC_000002.11:g.26703848delC | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.1607G>A (p.Trp536Ter) | 9381 | OTOF | Pathogenic | 397515584 | RCV000056018; | N | MedGen:C1832828,OMIM:601071 | 2 | 26703850 | 26703850 | NM_194248.2:c.1607G>A | NP_919224.1:p.Trp536Ter | NC_000002.11:g.26703850C>T | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.1601delC (p.Pro534Glnfs) | 9381 | OTOF | Pathogenic | 397515583 | RCV000056017; | N | MedGen:C1832828,OMIM:601071 | 2 | 26703856 | 26703856 | NM_194248.2:c.1601delC | NP_919224.1:p.Pro534Glnfs | NC_000002.11:g.26703856delG | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.1544T>C (p.Ile515Thr) | 9381 | OTOF | Pathogenic;association | 80356586 | RCV000021035; RCV000006517; | N | MedGen:C1832828,OMIM:601071; MedGen:CN043167 | 2 | 26705309 | 26705309 | NM_194248.2:c.1544T>C | NP_919224.1:p.Ile515Thr | NC_000002.11:g.26705309A>G | OMIM Allelic Variant:603681.0011 | CN043167 Auditory neuropathy, autosomal recessive, 1; C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.1469C>A (p.Pro490Gln) | 9381 | OTOF | Pathogenic | 80356585 | RCV000021034; | N | MedGen:C1832828,OMIM:601071 | 2 | 26705384 | 26705384 | NM_194248.2:c.1469C>A | NP_919224.1:p.Pro490Gln | NC_000002.11:g.26705384G>C,NC_000002.11:g.26705384G>T | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.1273C>T (p.Arg425Ter) | 9381 | OTOF | Pathogenic | 397515582 | RCV000056015; | N | MedGen:C1832828,OMIM:601071 | 2 | 26706449 | 26706449 | NM_194248.2:c.1273C>T | NP_919224.1:p.Arg425Ter | NC_000002.11:g.26706449G>A | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.1236delC (p.Glu413Asnfs) | 9381 | OTOF | Pathogenic | 397515581 | RCV000056014; | N | MedGen:C1832828,OMIM:601071 | 2 | 26706486 | 26706486 | NM_194248.2:c.1236delC | NP_919224.1:p.Glu413Asnfs | NC_000002.11:g.26706486delG | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.1194T>A (p.Asp398Glu) | 9381 | OTOF | Likely benign;Pathogenic | 181805996 | RCV000056013; RCV000041456; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26707353 | 26707353 | NM_194248.2:c.1194T>A | NP_919224.1:p.Asp398Glu | NC_000002.11:g.26707353A>T | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.1180dupG (p.Glu394Glyfs) | 9381 | OTOF | Pathogenic | 397515580 | RCV000056012; | N | MedGen:C1832828,OMIM:601071 | 2 | 26707367 | 26707367 | NM_194248.2:c.1180dupG | NP_919224.1:p.Glu394Glyfs | NC_000002.11:g.26707367dupC | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.1172delA (p.Lys391Argfs) | 9381 | OTOF | Likely pathogenic | 483353050 | RCV000119820; | N | MedGen:C1832828,OMIM:601071 | 2 | 26707375 | 26707375 | NM_194248.2:c.1172delA | NP_919224.1:p.Lys391Argfs | NC_000002.11:g.26707375delT | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.1103_1104delGGinsC (p.Gly368Alafs) | 9381 | OTOF | Pathogenic | 397515579 | RCV000056011; | N | MedGen:C1832828,OMIM:601071 | 2 | 26707443 | 26707444 | NM_194248.2:c.1103_1104delGGinsC | NP_919224.1:p.Gly368Alafs | NC_000002.11:g.26707443_26707444delCCinsG | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.945G>A (p.Lys315=) | 9381 | OTOF | Benign | 41288779 | RCV000021076; RCV000041591; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26712561 | 26712561 | NM_194248.2:c.945G>A | NP_919224.1:p.Lys315= | NC_000002.11:g.26712561C>T | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.897+1G>T | 9381 | OTOF | Likely pathogenic | 483353049 | RCV000119821; | N | MedGen:C1832828,OMIM:601071 | 2 | 26717809 | 26717809 | NM_194248.2:c.897+1G>T | | NC_000002.11:g.26717809C>A | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.766-2A>G | 9381 | OTOF | Pathogenic | 80356584 | RCV000006508; | N | MedGen:C1832828,OMIM:601071 | 2 | 26717943 | 26717943 | NM_194248.2:c.766-2A>G | | NC_000002.11:g.26717943T>C | OMIM Allelic Variant:603681.0002 | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.765G>C (p.Gln255His) | 9381 | OTOF | Pathogenic | 397515611 | RCV000056055; | N | MedGen:C1832828,OMIM:601071 | 2 | 26724622 | 26724622 | NM_194248.2:c.765G>C | NP_919224.1:p.Gln255His | NC_000002.11:g.26724622C>G | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.709C>T (p.Arg237Ter) | 9381 | OTOF | Pathogenic | 397515610 | RCV000056054; | N | MedGen:C1832828,OMIM:601071 | 2 | 26725169 | 26725169 | NM_194248.2:c.709C>T | NP_919224.1:p.Arg237Ter | NC_000002.11:g.26725169G>A | - | C1832828 601071 Deafness, autosomal recessive 9 | | |
NM_194248.2(OTOF):c.372A>G (p.Thr124=) | 9381 | OTOF | Benign | 11687696 | RCV000021059; RCV000041530; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26739423 | 26739423 | NM_194248.2:c.372A>G | NP_919224.1:p.Thr124= | NC_000002.11:g.26739423T>C | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.244C>T (p.Arg82Cys) | 9381 | OTOF | Benign | 13031859 | RCV000021048; RCV000041497; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26741961 | 26741961 | NM_194248.2:c.244C>T | NP_919224.1:p.Arg82Cys | NC_000002.11:g.26741961G>A | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.158C>T (p.Ala53Val) | 9381 | OTOF | Benign | 1879761 | RCV000021036; RCV000041465; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26750769 | 26750769 | NM_194248.2:c.158C>T | NP_919224.1:p.Ala53Val | NC_000002.11:g.26750769G>A | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |
NM_194248.2(OTOF):c.154G>A (p.Val52Met) | 9381 | OTOF | Uncertain significance | 199992845 | RCV000185572; RCV000151617; | N | MedGen:C1832828,OMIM:601071; MedGen:CN169374 | 2 | 26750773 | 26750773 | NM_194248.2:c.154G>A | NP_919224.1:p.Val52Met | NC_000002.11:g.26750773C>T | - | C1832828 601071 Deafness, autosomal recessive 9; CN169374 not specified | | |