| 28870693 | CV889103 | single nucleotide variant | NM_147196.3(TMIE):c.-8G>T | Autosomal recessive nonsyndromic hearing loss 6 [RCV001145474] | uncertain significance | 3 | 46701480 | 46701480 | Human | 1 | name |
| 11594377 | CV294815 | single nucleotide variant | NM_147196.3(TMIE):c.-37C>A | Autosomal recessive nonsyndromic hearing loss 6 [RCV000358521]|not provided [RCV004710951]|not specified [RCV000605156] | benign|likely benign|uncertain significance | 3 | 46701451 | 46701451 | Human | 1 | name |
| 11584424 | CV294823 | single nucleotide variant | NM_147196.3(TMIE):c.*51C>T | Autosomal recessive nonsyndromic hearing loss 6 [RCV000273608]|not provided [RCV001683377] | benign|likely benign | 3 | 46709739 | 46709739 | Human | 1 | name |
| 28870689 | CV889102 | single nucleotide variant | NM_147196.3(TMIE):c.-73C>T | Autosomal recessive nonsyndromic hearing loss 6 [RCV001145473] | uncertain significance | 3 | 46701415 | 46701415 | Human | 1 | name |
| 28877459 | CV889107 | single nucleotide variant | NM_147196.3(TMIE):c.*47T>A | Autosomal recessive nonsyndromic hearing loss 6 [RCV001148348] | uncertain significance | 3 | 46709735 | 46709735 | Human | 1 | name |
| 28877464 | CV889108 | single nucleotide variant | NM_147196.3(TMIE):c.*94A>C | Autosomal recessive nonsyndromic hearing loss 6 [RCV001148349] | uncertain significance | 3 | 46709782 | 46709782 | Human | 1 | name |
| 11591658 | CV290706 | single nucleotide variant | NM_147196.3(TMIE):c.*313C>T | Autosomal recessive nonsyndromic hearing loss 6 [RCV000331009] | uncertain significance | 3 | 46710001 | 46710001 | Human | 1 | name |
| 11595667 | CV290708 | single nucleotide variant | NM_147196.3(TMIE):c.*695G>A | Autosomal recessive nonsyndromic hearing loss 6 [RCV000372968] | likely benign | 3 | 46710383 | 46710383 | Human | 1 | name |
| 11592533 | CV290712 | single nucleotide variant | NM_147196.3(TMIE):c.*829G>T | Autosomal recessive nonsyndromic hearing loss 6 [RCV000339588] | uncertain significance | 3 | 46710517 | 46710517 | Human | 1 | name |
| 11645030 | CV291620 | single nucleotide variant | NM_147196.3(TMIE):c.*687C>T | Autosomal recessive nonsyndromic hearing loss 6 [RCV000263088] | uncertain significance | 3 | 46710375 | 46710375 | Human | 1 | name |
| 11590090 | CV291622 | single nucleotide variant | NM_147196.3(TMIE):c.*691G>A | Autosomal recessive nonsyndromic hearing loss 6 [RCV000315981] | uncertain significance | 3 | 46710379 | 46710379 | Human | 1 | name |
| 11588847 | CV294814 | single nucleotide variant | NM_147196.2(TMIE):c.-154G>A | Autosomal recessive nonsyndromic hearing loss 6 [RCV000306050]|not provided [RCV004694751] | uncertain significance | 3 | 46701334 | 46701334 | Human | 1 | name |
| 11586177 | CV294825 | single nucleotide variant | NM_147196.3(TMIE):c.*975G>A | Autosomal recessive nonsyndromic hearing loss 6 [RCV000285724]|not provided [RCV004708787] | benign|likely benign | 3 | 46710663 | 46710663 | Human | 1 | name |
| 11595758 | CV295225 | single nucleotide variant | NM_147196.3(TMIE):c.*612C>T | Autosomal recessive nonsyndromic hearing loss 6 [RCV000374073] | uncertain significance | 3 | 46710300 | 46710300 | Human | 1 | name |
| 11585995 | CV295228 | single nucleotide variant | NM_147196.3(TMIE):c.*767G>A | Autosomal recessive nonsyndromic hearing loss 6 [RCV000284612] | uncertain significance | 3 | 46710455 | 46710455 | Human | 1 | name |
| 11661833 | CV295242 | single nucleotide variant | NM_147196.3(TMIE):c.*905G>A | Autosomal recessive nonsyndromic hearing loss 6 [RCV000380142] | uncertain significance | 3 | 46710593 | 46710593 | Human | 1 | name |
| 597860711 | CV3748704 | single nucleotide variant | NM_147196.3(TMIE):c.93+8C>A | not provided [RCV005067336] | likely benign | 3 | 46701588 | 46701588 | Human | | name |
| 28877469 | CV889109 | single nucleotide variant | NM_147196.3(TMIE):c.*148A>G | Autosomal recessive nonsyndromic hearing loss 6 [RCV001148350] | uncertain significance | 3 | 46709836 | 46709836 | Human | 1 | name |
| 28877474 | CV889110 | single nucleotide variant | NM_147196.3(TMIE):c.*253G>A | Autosomal recessive nonsyndromic hearing loss 6 [RCV001148351]|not provided [RCV004694923] | uncertain significance | 3 | 46709941 | 46709941 | Human | 1 | name |
| 28877477 | CV889111 | single nucleotide variant | NM_147196.3(TMIE):c.*260C>A | Autosomal recessive nonsyndromic hearing loss 6 [RCV001148352]|not provided [RCV001696230] | benign|uncertain significance | 3 | 46709948 | 46709948 | Human | 1 | name |
| 28882331 | CV889112 | single nucleotide variant | NM_147196.3(TMIE):c.*642C>T | Autosomal recessive nonsyndromic hearing loss 6 [RCV001149913] | uncertain significance | 3 | 46710330 | 46710330 | Human | 1 | name |
| 28882336 | CV889113 | single nucleotide variant | NM_147196.3(TMIE):c.*671G>A | Autosomal recessive nonsyndromic hearing loss 6 [RCV001149914] | uncertain significance | 3 | 46710359 | 46710359 | Human | 1 | name |
| 28882339 | CV889114 | single nucleotide variant | NM_147196.3(TMIE):c.*719G>A | Autosomal recessive nonsyndromic hearing loss 6 [RCV001149915] | uncertain significance | 3 | 46710407 | 46710407 | Human | 1 | name |
| 28882345 | CV889115 | single nucleotide variant | NM_147196.3(TMIE):c.*803C>T | Autosomal recessive nonsyndromic hearing loss 6 [RCV001149916] | uncertain significance | 3 | 46710491 | 46710491 | Human | 1 | name |
| 28870890 | CV889116 | single nucleotide variant | NM_147196.3(TMIE):c.*974C>T | Autosomal recessive nonsyndromic hearing loss 6 [RCV001145580] | uncertain significance | 3 | 46710662 | 46710662 | Human | 1 | name |
| 150331913 | CV1171126 | single nucleotide variant | NM_147196.3(TMIE):c.94-88T>G | not provided [RCV001538829] | benign | 3 | 46705702 | 46705702 | Human | | name |
| 150442206 | CV1204669 | single nucleotide variant | NM_147196.3(TMIE):c.93+70G>C | not provided [RCV001583776] | likely benign | 3 | 46701650 | 46701650 | Human | | name |
| 150459794 | CV1236145 | single nucleotide variant | NM_147196.3(TMIE):c.94-31C>G | not provided [RCV001649116] | benign | 3 | 46705759 | 46705759 | Human | | name |
| 150469157 | CV1243111 | single nucleotide variant | NM_147196.3(TMIE):c.94-25C>T | not provided [RCV001650630] | benign | 3 | 46705765 | 46705765 | Human | | name |
| 152040206 | CV1644093 | single nucleotide variant | NM_147196.3(TMIE):c.93+11G>A | not provided [RCV002125978] | likely benign | 3 | 46701591 | 46701591 | Human | | name |
| 156446874 | CV1948237 | single nucleotide variant | NM_147196.3(TMIE):c.362-2A>G | not provided [RCV003118393] | pathogenic|uncertain significance | 3 | 46709577 | 46709577 | Human | | name |
| 156232342 | CV2024515 | single nucleotide variant | NM_147196.3(TMIE):c.94-12C>T | not provided [RCV002745354] | likely benign | 3 | 46705778 | 46705778 | Human | | name |
| 401722469 | CV2737689 | single nucleotide variant | NM_147196.3(TMIE):c.211+1G>C | TMIE-related disorder [RCV003420655]|not provided [RCV003314861] | pathogenic|uncertain significance | 3 | 46705908 | 46705908 | Human | 1 | name , trait , alternate_id |
| 11657951 | CV294829 | single nucleotide variant | NM_147196.3(TMIE):c.*1000C>T | Hearing loss, autosomal recessive [RCV004577855] | uncertain significance | 3 | 46710688 | 46710688 | Human | 2 | name |
| 598204556 | CV3896681 | single nucleotide variant | NM_147196.3(TMIE):c.361+1G>A | Autosomal recessive nonsyndromic hearing loss 6 [RCV005356882] | likely pathogenic | 3 | 46709276 | 46709276 | Human | 1 | name |
| 13529403 | CV496361 | single nucleotide variant | NM_147196.3(TMIE):c.211+5G>A | not provided [RCV001565176]|not specified [RCV000605722] | likely pathogenic|uncertain significance | 3 | 46705912 | 46705912 | Human | | name |
| 8610823 | CV57121 | single nucleotide variant | NM_147196.3(TMIE):c.211+3G>C | Rare genetic deafness [RCV000041229] | likely pathogenic | 3 | 46705910 | 46705910 | Human | | name |
| 150331998 | CV1171125 | single nucleotide variant | NM_147196.3(TMIE):c.94-123A>T | not provided [RCV001538864] | benign | 3 | 46705667 | 46705667 | Human | | name |
| 150438066 | CV1201352 | single nucleotide variant | NM_147196.3(TMIE):c.211+60C>T | not provided [RCV001583164] | likely benign | 3 | 46705967 | 46705967 | Human | | name |
| 150503487 | CV1241816 | single nucleotide variant | NM_147196.3(TMIE):c.94-291T>C | not provided [RCV001657407] | benign | 3 | 46705499 | 46705499 | Human | | name |
| 150476618 | CV1263670 | single nucleotide variant | NM_147196.3(TMIE):c.94-305G>A | not provided [RCV001685193] | benign | 3 | 46705485 | 46705485 | Human | | name |
| 150451456 | CV1276598 | single nucleotide variant | NM_147196.3(TMIE):c.212-63G>A | not provided [RCV001708387] | benign | 3 | 46709063 | 46709063 | Human | | name |
| 156081218 | CV1975943 | single nucleotide variant | NM_147196.3(TMIE):c.212-17C>T | not provided [RCV002621550] | likely benign | 3 | 46709109 | 46709109 | Human | | name |
| 13538340 | CV496737 | single nucleotide variant | NM_147196.3(TMIE):c.361+11C>T | not specified [RCV000611686] | likely benign | 3 | 46709286 | 46709286 | Human | | name |
| 150439803 | CV1266825 | single nucleotide variant | NM_147196.3(TMIE):c.212-160T>C | not provided [RCV001690260] | benign | 3 | 46708966 | 46708966 | Human | | name |
| 150467564 | CV1240900 | deletion | NM_147196.3(TMIE):c.*261_*269del | not provided [RCV001650358] | benign | 3 | 46709949 | 46709957 | Human | | name |
| 150496841 | CV1256000 | deletion | NM_147196.3(TMIE):c.*275_*279del | not provided [RCV001676095] | benign | 3 | 46709962 | 46709966 | Human | | name |
| 150417076 | CV1179722 | deletion | NM_001370524.1(TMIE):c.-66-4749del | not provided [RCV001549958] | likely benign | 3 | 46701032 | 46701032 | Human | | name |
| 150477101 | CV1203139 | single nucleotide variant | NM_001370524.1(TMIE):c.-66-4751C>G | not provided [RCV001589733] | likely benign | 3 | 46701039 | 46701039 | Human | | name |
| 150508193 | CV1229582 | duplication | NM_001370524.1(TMIE):c.-66-4749dup | not provided [RCV001636160] | benign | 3 | 46701031 | 46701032 | Human | | name |
| 150502638 | CV1241610 | insertion | NM_147196.3(TMIE):c.*278_*279insGG | not provided [RCV001657201] | benign | 3 | 46709966 | 46709967 | Human | | name |
| 150483621 | CV1248262 | single nucleotide variant | NM_001370524.1(TMIE):c.-66-4757C>A | not provided [RCV001673477] | benign | 3 | 46701033 | 46701033 | Human | | name |
| 150446623 | CV1250692 | single nucleotide variant | NM_001370524.1(TMIE):c.-66-4532C>A | not provided [RCV001667197] | benign | 3 | 46701258 | 46701258 | Human | | name |
| 150452936 | CV1255028 | single nucleotide variant | NM_001370524.1(TMIE):c.-66-4533G>A | not provided [RCV001668087] | benign | 3 | 46701257 | 46701257 | Human | | name |
| 150437912 | CV1262384 | single nucleotide variant | NM_001370524.1(TMIE):c.-66-4531A>T | not provided [RCV001678743] | benign | 3 | 46701259 | 46701259 | Human | | name |
| 8557395 | CV18432 | indel | NM_147196.3(TMIE):c.94-2_98delinsC | Autosomal recessive nonsyndromic hearing loss 6 [RCV000003560] | pathogenic | 3 | 46705788 | 46705794 | Human | | name |
| 151767676 | CV1341600 | single nucleotide variant | NM_147196.3(TMIE):c.5C>T (p.Ala2Val) | Inborn genetic diseases [RCV003164064]|not provided [RCV001874133] | uncertain significance | 3 | 46701492 | 46701492 | Human | 1 | name |
| 156416735 | CV1898056 | single nucleotide variant | NM_147196.3(TMIE):c.30C>T (p.Leu10=) | not provided [RCV002610335] | likely benign | 3 | 46701517 | 46701517 | Human | | name |
| 156134887 | CV1914549 | single nucleotide variant | NM_147196.3(TMIE):c.5C>G (p.Ala2Gly) | Inborn genetic diseases [RCV002623450]|not provided [RCV002611373] | uncertain significance | 3 | 46701492 | 46701492 | Human | 1 | name |
| 156420090 | CV1975578 | single nucleotide variant | NM_147196.3(TMIE):c.54C>T (p.Leu18=) | not provided [RCV002613343] | likely benign | 3 | 46701541 | 46701541 | Human | | name |
| 151816806 | CV1441061 | single nucleotide variant | NM_147196.3(TMIE):c.14C>G (p.Pro5Arg) | not provided [RCV001933753] | uncertain significance | 3 | 46701501 | 46701501 | Human | | name |
| 9692264 | CV173795 | single nucleotide variant | NM_147196.3(TMIE):c.174C>T (p.His58=) | Autosomal recessive nonsyndromic hearing loss 6 [RCV001147420]|not provided [RCV001697077]|not specified [RCV000152051] | likely benign|uncertain significance | 3 | 46705870 | 46705870 | Human | 1 | name |
| 156364521 | CV1897223 | single nucleotide variant | NM_147196.3(TMIE):c.261G>A (p.Lys87=) | not provided [RCV002581965] | likely benign | 3 | 46709175 | 46709175 | Human | | name |
| 11088449 | CV229093 | single nucleotide variant | NM_147196.3(TMIE):c.219G>A (p.Thr73=) | Autosomal recessive nonsyndromic hearing loss 6 [RCV001147422]|TMIE-related disorder [RCV004751377]|not provided [RCV000731531]|not specified [RCV000213588] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 46709133 | 46709133 | Human | 1 | name , trait , alternate_id |
| 11653268 | CV294816 | single nucleotide variant | NM_147196.3(TMIE):c.144A>G (p.Thr48=) | Autosomal recessive nonsyndromic hearing loss 6 [RCV000309816] | uncertain significance | 3 | 46705840 | 46705840 | Human | 1 | name |
| 407527099 | CV3482902 | single nucleotide variant | NM_147196.3(TMIE):c.22G>A (p.Gly8Ser) | Inborn genetic diseases [RCV004679882] | uncertain significance | 3 | 46701509 | 46701509 | Human | 1 | name |
| 597861097 | CV3748744 | single nucleotide variant | NM_147196.3(TMIE):c.280C>T (p.Leu94=) | not provided [RCV005067376] | likely benign | 3 | 46709194 | 46709194 | Human | | name |
| 13526630 | CV496736 | single nucleotide variant | NM_147196.3(TMIE):c.123G>A (p.Pro41=) | not provided [RCV002528782]|not specified [RCV000604382] | likely benign | 3 | 46705819 | 46705819 | Human | | name |
| 8610822 | CV57120 | single nucleotide variant | NM_147196.3(TMIE):c.102G>A (p.Thr34=) | Autosomal recessive nonsyndromic hearing loss 6 [RCV001145476]|TMIE-related disorder [RCV003944952]|not provided [RCV000902784]|not specified [RCV000041228] | likely benign|uncertain significance | 3 | 46705798 | 46705798 | Human | 1 | name , trait , alternate_id |
| 25318253 | CV805352 | deletion | NM_147196.3(TMIE):c.58del (p.Val20fs) | not provided [RCV001008501] | pathogenic|likely pathogenic | 3 | 46701542 | 46701542 | Human | | name |
| 28874935 | CV889105 | single nucleotide variant | NM_147196.3(TMIE):c.192G>A (p.Ser64=) | Autosomal recessive nonsyndromic hearing loss 6 [RCV001147421]|not provided [RCV001560947] | likely benign|uncertain significance | 3 | 46705888 | 46705888 | Human | 1 | name |
| 150441039 | CV1204493 | single nucleotide variant | NM_147196.3(TMIE):c.59T>A (p.Val20Glu) | not provided [RCV001583599] | likely benign | 3 | 46701546 | 46701546 | Human | | name |
| 152063448 | CV1554383 | single nucleotide variant | NM_147196.3(TMIE):c.393G>A (p.Lys131=) | not provided [RCV002190811] | likely benign | 3 | 46709610 | 46709610 | Human | | name |
| 156179386 | CV2298374 | single nucleotide variant | NM_147196.3(TMIE):c.49G>A (p.Ala17Thr) | Inborn genetic diseases [RCV002891882]|not provided [RCV003332413] | uncertain significance | 3 | 46701536 | 46701536 | Human | 1 | name |
| 156385250 | CV2368228 | single nucleotide variant | NM_147196.3(TMIE):c.31T>C (p.Cys11Arg) | Inborn genetic diseases [RCV002679595]|not provided [RCV005412506] | uncertain significance | 3 | 46701518 | 46701518 | Human | 1 | name |
| 405191781 | CV3157125 | single nucleotide variant | NM_147196.3(TMIE):c.378G>A (p.Lys126=) | not provided [RCV003859813] | likely benign | 3 | 46709595 | 46709595 | Human | | name |
| 407527092 | CV3482899 | single nucleotide variant | NM_147196.3(TMIE):c.58G>C (p.Val20Leu) | Inborn genetic diseases [RCV004679879] | uncertain significance | 3 | 46701545 | 46701545 | Human | 1 | name |
| 12742868 | CV359531 | single nucleotide variant | NM_147196.3(TMIE):c.92A>G (p.Glu31Gly) | Autosomal recessive nonsyndromic hearing loss 6 [RCV002510572]|not provided [RCV000414718] | pathogenic|likely pathogenic | 3 | 46701579 | 46701579 | Human | 1 | name |
| 617150613 | CV4017682 | single nucleotide variant | NM_147196.3(TMIE):c.28C>T (p.Leu10Phe) | not provided [RCV005417340] | uncertain significance | 3 | 46701515 | 46701515 | Human | | name |
| 13530961 | CV496738 | single nucleotide variant | NM_147196.3(TMIE):c.390G>A (p.Lys130=) | not specified [RCV000606314] | likely benign | 3 | 46709607 | 46709607 | Human | | name |
| 8610825 | CV57123 | single nucleotide variant | NM_147196.3(TMIE):c.34G>T (p.Val12Leu) | Autosomal recessive nonsyndromic hearing loss 6 [RCV000400167]|Inborn genetic diseases [RCV002513576]|not provided [RCV001852836]|not specified [RCV000041231] | uncertain significance | 3 | 46701521 | 46701521 | Human | 2 | name |
| 8610829 | CV57127 | single nucleotide variant | NM_147196.3(TMIE):c.40G>A (p.Gly14Ser) | Inborn genetic diseases [RCV002513577]|not provided [RCV001570667]|not specified [RCV000041235] | likely benign|uncertain significance | 3 | 46701527 | 46701527 | Human | 1 | name |
| 28870694 | CV889104 | single nucleotide variant | NM_147196.3(TMIE):c.64C>T (p.Leu22Phe) | Autosomal recessive nonsyndromic hearing loss 6 [RCV001145475]|not provided [RCV004761939] | uncertain significance | 3 | 46701551 | 46701551 | Human | 1 | name |
| 126736995 | CV1016259 | deletion | NM_147196.3(TMIE):c.390del (p.Lys131fs) | Deafness, autosomal recessive 6 [RCV001328657] | pathogenic | 3 | 46709607 | 46709607 | Human | | name |
| 150336184 | CV1164909 | single nucleotide variant | NM_147196.3(TMIE):c.148G>T (p.Val50Leu) | Autosomal recessive nonsyndromic hearing loss 6 [RCV003136098]|TMIE-related disorder [RCV003921188]|not provided [RCV001530729] | likely benign|uncertain significance | 3 | 46705844 | 46705844 | Human | 1 | name , trait , alternate_id |
| 153000390 | CV1333886 | deletion | NM_001370524.1(TMIE):c.-507_-66-2329del | Autosomal recessive nonsyndromic hearing loss 6 [RCV002259404] | pathogenic | 3 | 46694176 | 46703459 | Human | 1 | name |
| 151881409 | CV1384894 | single nucleotide variant | NM_147196.3(TMIE):c.128C>T (p.Pro43Leu) | not provided [RCV001982604] | uncertain significance | 3 | 46705824 | 46705824 | Human | | name |
| 151785250 | CV1397106 | single nucleotide variant | NM_147196.3(TMIE):c.122C>T (p.Pro41Leu) | Inborn genetic diseases [RCV002560396]|not provided [RCV001930829] | uncertain significance | 3 | 46705818 | 46705818 | Human | 1 | name |
| 151892287 | CV1480798 | single nucleotide variant | NM_147196.3(TMIE):c.208A>G (p.Ile70Val) | not provided [RCV001943954] | uncertain significance | 3 | 46705904 | 46705904 | Human | | name |
| 151759797 | CV1499877 | single nucleotide variant | NM_147196.3(TMIE):c.143C>G (p.Thr48Arg) | Inborn genetic diseases [RCV004970386]|not provided [RCV001895172] | uncertain significance | 3 | 46705839 | 46705839 | Human | 1 | name |
| 9688176 | CV173936 | single nucleotide variant | NM_147196.3(TMIE):c.191C>T (p.Ser64Leu) | Autosomal recessive nonsyndromic hearing loss 6 [RCV000999882]|not provided [RCV000724726]|not specified [RCV000152052] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 46705887 | 46705887 | Human | 1 | name |
| 8596108 | CV18429 | single nucleotide variant | NM_147196.3(TMIE):c.241C>T (p.Arg81Cys) | Autosomal recessive nonsyndromic hearing loss 6 [RCV000003557]|Hearing loss, autosomal recessive [RCV001291482]|Sensorineural hearing loss disorder [RCV005420503]|not provided [RCV001753398] | pathogenic|likely pathogenic|uncertain significance | 3 | 46709155 | 46709155 | Human | 5 | name |
| 8596109 | CV18430 | single nucleotide variant | NM_147196.3(TMIE):c.250C>T (p.Arg84Trp) | Autosomal recessive nonsyndromic hearing loss 6 [RCV000003558]|Hearing impairment [RCV001375180]|Hearing loss, autosomal recessive [RCV001291483]|Sensorineural hearing loss disorder [RCV001353204]|not provided [RCV001093068] | pathogenic|likely pathogenic | 3 | 46709164 | 46709164 | Human | 6 | name |
| 8596110 | CV18431 | single nucleotide variant | NM_147196.3(TMIE):c.274C>T (p.Arg92Trp) | Autosomal recessive nonsyndromic hearing loss 6 [RCV000003559] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 3 | 46709188 | 46709188 | Human | 1 | name |
| 8596111 | CV18433 | single nucleotide variant | NM_147196.3(TMIE):c.170G>A (p.Trp57Ter) | Autosomal recessive nonsyndromic hearing loss 6 [RCV000003561] | pathogenic | 3 | 46705866 | 46705866 | Human | 1 | name |
| 156355720 | CV1962385 | single nucleotide variant | NM_147196.3(TMIE):c.163C>T (p.Arg55Cys) | Inborn genetic diseases [RCV002581375]|not provided [RCV002581374] | likely pathogenic|uncertain significance | 3 | 46705859 | 46705859 | Human | 1 | name |
| 11096435 | CV229094 | single nucleotide variant | NM_147196.3(TMIE):c.247C>T (p.Pro83Ser) | not specified [RCV000223576] | uncertain significance | 3 | 46709161 | 46709161 | Human | | name |
| 155964928 | CV2395894 | single nucleotide variant | NM_147196.3(TMIE):c.227G>A (p.Cys76Tyr) | Inborn genetic diseases [RCV002754356] | uncertain significance | 3 | 46709141 | 46709141 | Human | 1 | name |
| 243050944 | CV2419719 | single nucleotide variant | NM_147196.3(TMIE):c.162G>A (p.Met54Ile) | not provided [RCV003156651] | uncertain significance | 3 | 46705858 | 46705858 | Human | | name |
| 401732348 | CV2678075 | single nucleotide variant | NM_147196.3(TMIE):c.275G>A (p.Arg92Gln) | Inborn genetic diseases [RCV003248871] | uncertain significance | 3 | 46709189 | 46709189 | Human | 1 | name |
| 11581237 | CV271879 | single nucleotide variant | NM_147196.3(TMIE):c.206C>T (p.Ser69Phe) | Autosomal recessive nonsyndromic hearing loss 6 [RCV000362154]|not provided [RCV000336777] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 46705902 | 46705902 | Human | 1 | name |
| 405154140 | CV3135164 | single nucleotide variant | NM_147196.3(TMIE):c.251G>A (p.Arg84Gln) | not provided [RCV003840276] | uncertain significance | 3 | 46709165 | 46709165 | Human | | name |
| 408384252 | CV3520056 | single nucleotide variant | NM_147196.3(TMIE):c.256C>T (p.Arg86Trp) | not provided [RCV004759877] | uncertain significance | 3 | 46709170 | 46709170 | Human | | name |
| 597628912 | CV3610811 | single nucleotide variant | NM_147196.3(TMIE):c.175G>A (p.Val59Met) | Inborn genetic diseases [RCV004966957] | uncertain significance | 3 | 46705871 | 46705871 | Human | 1 | name |
| 597724748 | CV3734540 | single nucleotide variant | NM_147196.3(TMIE):c.286C>T (p.Arg96Ter) | Autosomal recessive nonsyndromic hearing loss 6 [RCV005053847] | pathogenic | 3 | 46709200 | 46709200 | Human | 1 | name |
| 597834488 | CV3760762 | single nucleotide variant | NM_147196.3(TMIE):c.242G>A (p.Arg81His) | not provided [RCV005085313] | uncertain significance | 3 | 46709156 | 46709156 | Human | | name |
| 598252866 | CV3914129 | single nucleotide variant | NM_147196.3(TMIE):c.184A>G (p.Ile62Val) | Inborn genetic diseases [RCV005278154] | uncertain significance | 3 | 46705880 | 46705880 | Human | 1 | name |
| 13538882 | CV496360 | single nucleotide variant | NM_147196.3(TMIE):c.101C>T (p.Thr34Met) | not specified [RCV000612491] | uncertain significance | 3 | 46705797 | 46705797 | Human | | name |
| 13526641 | CV496775 | single nucleotide variant | NM_147196.3(TMIE):c.218C>T (p.Thr73Met) | not provided [RCV002305512]|not specified [RCV000604397] | uncertain significance | 3 | 46709132 | 46709132 | Human | | name |
| 8610824 | CV57122 | single nucleotide variant | NM_147196.3(TMIE):c.251G>T (p.Arg84Leu) | Rare genetic deafness [RCV000041230] | likely pathogenic | 3 | 46709165 | 46709165 | Human | | name |
| 151349122 | CV1170191 | single nucleotide variant | NM_147196.3(TMIE):c.349G>T (p.Glu117Ter) | Ear malformation [RCV001814433] | likely pathogenic | 3 | 46709263 | 46709263 | Human | 1 | name |
| 151862228 | CV1408997 | single nucleotide variant | NM_147196.3(TMIE):c.332C>A (p.Pro111His) | Inborn genetic diseases [RCV004968384]|not provided [RCV001905433] | uncertain significance | 3 | 46709246 | 46709246 | Human | 1 | name |
| 156404865 | CV1919075 | single nucleotide variant | NM_147196.3(TMIE):c.338A>G (p.Asn113Ser) | not provided [RCV002585517] | uncertain significance | 3 | 46709252 | 46709252 | Human | | name |
| 407527095 | CV3482900 | single nucleotide variant | NM_147196.3(TMIE):c.388A>G (p.Lys130Glu) | Inborn genetic diseases [RCV004679880] | uncertain significance | 3 | 46709605 | 46709605 | Human | 1 | name |
| 407527097 | CV3482901 | single nucleotide variant | NM_147196.3(TMIE):c.390G>C (p.Lys130Asn) | Inborn genetic diseases [RCV004679881] | uncertain significance | 3 | 46709607 | 46709607 | Human | 1 | name |
| 408392930 | CV3528308 | single nucleotide variant | NM_147196.3(TMIE):c.440A>G (p.Asn147Ser) | not provided [RCV004776076] | uncertain significance | 3 | 46709657 | 46709657 | Human | | name |
| 597628917 | CV3610813 | single nucleotide variant | NM_147196.3(TMIE):c.407C>T (p.Thr136Ile) | Inborn genetic diseases [RCV004966958] | uncertain significance | 3 | 46709624 | 46709624 | Human | 1 | name |
| 8610826 | CV57124 | single nucleotide variant | NM_147196.3(TMIE):c.366T>G (p.Asp122Glu) | Autosomal recessive nonsyndromic hearing loss 6 [RCV000313445]|not provided [RCV001852837]|not specified [RCV000041232] | likely benign|uncertain significance | 3 | 46709583 | 46709583 | Human | 1 | name |
| 14703931 | CV654329 | single nucleotide variant | NM_147196.3(TMIE):c.419A>G (p.Lys140Arg) | not specified [RCV000825472] | uncertain significance | 3 | 46709636 | 46709636 | Human | | name |
| 8630851 | CV86006 | single nucleotide variant | NM_147196.2(TMIE):c.331C>T (p.Pro111Ser) | Malignant melanoma [RCV000066090] | not provided | 3 | 46709245 | 46709245 | Human | | name |
| 28874942 | CV889106 | single nucleotide variant | NM_147196.3(TMIE):c.413C>T (p.Ala138Val) | Autosomal recessive nonsyndromic hearing loss 6 [RCV001147423] | uncertain significance | 3 | 46709630 | 46709630 | Human | 1 | name |
| 597724750 | CV3734541 | insertion | NM_147196.3(TMIE):c.87_88insT (p.Val30fs) | Autosomal recessive nonsyndromic hearing loss 6 [RCV005053848] | likely pathogenic | 3 | 46701574 | 46701575 | Human | 1 | name |
| 13540579 | CV496722 | duplication | NM_147196.2(TMIE):c.(?_-216)_*(1276_?)dup | not specified [RCV000614893] | uncertain significance | 3 | 46701272 | 46710964 | Human | | name |
| 151661537 | CV1175585 | deletion | NM_147196.3(TMIE):c.144_145del (p.Val49fs) | Autosomal recessive nonsyndromic hearing loss 6 [RCV001823285] | pathogenic | 3 | 46705840 | 46705841 | Human | 1 | name |
| 8557394 | CV18428 | deletion | NM_147196.3(TMIE):c.122_125del (p.Pro41fs) | Autosomal recessive nonsyndromic hearing loss 6 [RCV000003556] | pathogenic | 3 | 46705817 | 46705820 | Human | 1 | name |
| 126909473 | CV972460 | duplication | NM_147196.3(TMIE):c.122_125dup (p.Pro43fs) | Autosomal recessive nonsyndromic hearing loss 6 [RCV003447583]|Sensorineural hearing loss disorder [RCV001353203] | pathogenic|likely pathogenic | 3 | 46705816 | 46705817 | Human | 3 | name |
| 126737002 | CV1016260 | deletion | NM_147196.3(TMIE):c.392_393del (p.Lys131fs) | Deafness, autosomal recessive 6 [RCV001328658] | pathogenic | 3 | 46709609 | 46709610 | Human | | name |
| 151764458 | CV1462404 | duplication | NM_147196.3(TMIE):c.367_368dup (p.Lys124fs) | not provided [RCV001970552] | uncertain significance | 3 | 46709583 | 46709584 | Human | | name |
| 8610828 | CV57126 | microsatellite | NM_147196.3(TMIE):c.367AAG[8] (p.Lys131del) | Autosomal recessive nonsyndromic hearing loss 6 [RCV000755405]|not provided [RCV001668170]|not specified [RCV000041234] | benign | 3 | 46709584 | 46709586 | Human | | name |
| 9690418 | CV173796 | microsatellite | NM_147196.3(TMIE):c.367AAG[10] (p.Lys131dup) | Hearing loss, autosomal recessive [RCV004577728]|not provided [RCV001533536]|not specified [RCV000156096] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 46709583 | 46709584 | Human | | name |
| 9688177 | CV176918 | indel | NM_147196.3(TMIE):c.367_393= (p.Lys123_Lys131=) | not specified [RCV000152053] | benign | 3 | 46709584 | 46709610 | Human | | name |
| 13436987 | CV433973 | deletion | NM_147196.2(TMIE):c.367_369delAAG (p.Lys131del) | not specified [RCV000508102] | benign | 3 | 46709584 | 46709586 | Human | | name |
| 11096068 | CV229095 | microsatellite | NM_147196.3(TMIE):c.367AAG[6] (p.Lys129_Lys131del) | TMIE-related disorder [RCV003929881]|not provided [RCV000727294]|not specified [RCV000223108] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 46709584 | 46709592 | Human | | name , trait , alternate_id |
| 11552055 | CV251169 | microsatellite | NM_147196.3(TMIE):c.367AAG[7] (p.Lys130_Lys131del) | not provided [RCV001552669]|not specified [RCV000253873] | benign|likely benign | 3 | 46709584 | 46709589 | Human | | name |
| 13526675 | CV500836 | microsatellite | NM_147196.3(TMIE):c.367AAG[11] (p.Lys130_Lys131dup) | TMIE-related disorder [RCV003953070]|not provided [RCV001698041] | likely benign | 3 | 46709583 | 46709584 | Human | | name , trait , alternate_id |
| 11646288 | CV294822 | deletion | NM_147196.3(TMIE):c.366_368del (p.Asp122_Lys123delinsGlu) | Hearing loss, autosomal recessive [RCV004577854]|not provided [RCV002523260] | uncertain significance | 3 | 46709582 | 46709584 | Human | 2 | name |
