| 11558329 | CV260902 | single nucleotide variant | NM_024715.4(TXNDC15):c.103+1G>A | Meckel syndrome 14 [RCV002248499]|Meckel-Gruber syndrome [RCV000256449] | pathogenic|likely pathogenic | 5 | 134874531 | 134874531 | Human | 2 | name |
| 405072897 | CV3145462 | single nucleotide variant | NM_024715.4(TXNDC15):c.756-4G>T | not provided [RCV003851047] | likely benign | 5 | 134896290 | 134896290 | Human | | name |
| 156275911 | CV2133072 | deletion | NM_024715.4(TXNDC15):c.104-10del | not provided [RCV003009428] | benign | 5 | 134887685 | 134887685 | Human | | name |
| 401917853 | CV2828007 | deletion | NM_024715.4(TXNDC15):c.103+836del | not provided [RCV003429771] | benign | 5 | 134875366 | 134875366 | Human | | name |
| 401915059 | CV2828008 | single nucleotide variant | NM_024715.4(TXNDC15):c.103+837G>T | not provided [RCV003428611] | benign | 5 | 134875367 | 134875367 | Human | | name |
| 156415160 | CV1983219 | single nucleotide variant | NM_024715.4(TXNDC15):c.6C>T (p.Val2=) | not provided [RCV002609540] | likely benign | 5 | 134874433 | 134874433 | Human | | name |
| 405262422 | CV3200267 | single nucleotide variant | NM_024715.4(TXNDC15):c.27G>T (p.Pro9=) | TXNDC15-related disorder [RCV003967298] | likely benign | 5 | 134874454 | 134874454 | Human | | name , trait , alternate_id |
| 405228513 | CV3153345 | single nucleotide variant | NM_024715.4(TXNDC15):c.42G>A (p.Arg14=) | not provided [RCV003848409] | likely benign | 5 | 134874469 | 134874469 | Human | | name |
| 152065772 | CV1583526 | single nucleotide variant | NM_024715.4(TXNDC15):c.240G>A (p.Ala80=) | not provided [RCV002110768] | benign | 5 | 134887831 | 134887831 | Human | | name |
| 156143361 | CV2002862 | single nucleotide variant | NM_024715.4(TXNDC15):c.264C>T (p.Gly88=) | not provided [RCV002663649] | likely benign | 5 | 134887855 | 134887855 | Human | | name |
| 152157895 | CV1542117 | single nucleotide variant | NM_024715.4(TXNDC15):c.312A>G (p.Lys104=) | not provided [RCV002202915] | benign | 5 | 134887903 | 134887903 | Human | 1 | name |
| 152982143 | CV1679123 | duplication | NM_024715.4(TXNDC15):c.211dup (p.Gln71fs) | Meckel syndrome 14 [RCV002248458]|not provided [RCV005095842] | pathogenic | 5 | 134887800 | 134887801 | Human | 1 | name |
| 405147253 | CV3024084 | single nucleotide variant | NM_024715.4(TXNDC15):c.963T>C (p.Ser321=) | not provided [RCV003703023] | likely benign | 5 | 134899565 | 134899565 | Human | | name |
| 405227477 | CV3069624 | single nucleotide variant | NM_024715.4(TXNDC15):c.405C>T (p.Gly135=) | not provided [RCV003734302] | likely benign | 5 | 134887996 | 134887996 | Human | | name |
| 405270315 | CV3215485 | single nucleotide variant | NM_024715.4(TXNDC15):c.85C>G (p.Pro29Ala) | TXNDC15-related disorder [RCV003949224] | likely benign | 5 | 134874512 | 134874512 | Human | | name , trait , alternate_id |
| 597635675 | CV3628878 | single nucleotide variant | NM_024715.4(TXNDC15):c.39G>T (p.Met13Ile) | Inborn genetic diseases [RCV004969679] | uncertain significance | 5 | 134874466 | 134874466 | Human | 1 | name |
| 152982142 | CV1679122 | duplication | NM_024715.4(TXNDC15):c.956dup (p.Ser321fs) | Meckel syndrome 14 [RCV002248457] | pathogenic | 5 | 134899557 | 134899558 | Human | 1 | name |
| 156318362 | CV2200302 | single nucleotide variant | NM_024715.4(TXNDC15):c.104T>C (p.Val35Ala) | Inborn genetic diseases [RCV002648910] | uncertain significance | 5 | 134887695 | 134887695 | Human | 1 | name |
| 329388798 | CV2447882 | single nucleotide variant | NM_024715.4(TXNDC15):c.203C>T (p.Pro68Leu) | Inborn genetic diseases [RCV003190799] | uncertain significance | 5 | 134887794 | 134887794 | Human | 1 | name |
| 407522270 | CV3493146 | single nucleotide variant | NM_024715.4(TXNDC15):c.197A>G (p.His66Arg) | Inborn genetic diseases [RCV004677615] | uncertain significance | 5 | 134887788 | 134887788 | Human | 1 | name |
| 597635666 | CV3628876 | single nucleotide variant | NM_024715.4(TXNDC15):c.122G>A (p.Arg41His) | Inborn genetic diseases [RCV004969677] | likely benign | 5 | 134887713 | 134887713 | Human | 1 | name |
| 152168733 | CV1545532 | single nucleotide variant | NM_024715.4(TXNDC15):c.523G>C (p.Val175Leu) | TXNDC15-related disorder [RCV003958855]|not provided [RCV002142548] | benign | 5 | 134888114 | 134888114 | Human | 1 | name , trait , alternate_id |
| 152040327 | CV1608953 | single nucleotide variant | NM_024715.4(TXNDC15):c.376G>A (p.Val126Ile) | Inborn genetic diseases [RCV004045860]|not provided [RCV002107644] | benign|uncertain significance | 5 | 134887967 | 134887967 | Human | 1 | name |
| 152982144 | CV1679124 | single nucleotide variant | NM_024715.4(TXNDC15):c.635T>C (p.Leu212Pro) | Meckel syndrome 14 [RCV002248459] | pathogenic | 5 | 134893535 | 134893535 | Human | 1 | name |
| 155799918 | CV1862700 | single nucleotide variant | NM_024715.4(TXNDC15):c.304G>C (p.Glu102Gln) | Meckel-Gruber syndrome [RCV002472107] | uncertain significance | 5 | 134887895 | 134887895 | Human | 1 | name |
| 156369206 | CV1919979 | single nucleotide variant | NM_024715.4(TXNDC15):c.317G>C (p.Ser106Thr) | Inborn genetic diseases [RCV004068923]|not provided [RCV002603044] | uncertain significance | 5 | 134887908 | 134887908 | Human | 1 | name |
| 156295190 | CV2073445 | single nucleotide variant | NM_024715.4(TXNDC15):c.489C>G (p.Asp163Glu) | not provided [RCV002833368] | uncertain significance | 5 | 134888080 | 134888080 | Human | | name |
| 156115959 | CV2221604 | single nucleotide variant | NM_024715.4(TXNDC15):c.841G>T (p.Asp281Tyr) | Inborn genetic diseases [RCV002761983] | uncertain significance | 5 | 134896379 | 134896379 | Human | 1 | name |
| 156206229 | CV2297943 | single nucleotide variant | NM_024715.4(TXNDC15):c.800T>C (p.Leu267Ser) | Inborn genetic diseases [RCV002875159] | uncertain significance | 5 | 134896338 | 134896338 | Human | 1 | name |
| 156044777 | CV2305968 | single nucleotide variant | NM_024715.4(TXNDC15):c.622A>G (p.Ser208Gly) | Inborn genetic diseases [RCV002924106] | uncertain significance | 5 | 134893522 | 134893522 | Human | 1 | name |
| 329355190 | CV2449274 | single nucleotide variant | NM_024715.4(TXNDC15):c.331G>A (p.Gly111Ser) | Inborn genetic diseases [RCV003202765] | uncertain significance | 5 | 134887922 | 134887922 | Human | 1 | name |
| 329397789 | CV2466339 | single nucleotide variant | NM_024715.4(TXNDC15):c.925G>C (p.Asp309His) | Inborn genetic diseases [RCV003195751] | uncertain significance | 5 | 134899527 | 134899527 | Human | 1 | name |
| 329846393 | CV2524720 | single nucleotide variant | NM_024715.4(TXNDC15):c.703C>T (p.Arg235Trp) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV003228200] | uncertain significance | 5 | 134893603 | 134893603 | Human | 1 | name |
| 401771832 | CV2693540 | single nucleotide variant | NM_024715.4(TXNDC15):c.661C>T (p.Arg221Cys) | Inborn genetic diseases [RCV003284845] | uncertain significance | 5 | 134893561 | 134893561 | Human | 1 | name |
| 401750341 | CV2701167 | single nucleotide variant | NM_024715.4(TXNDC15):c.535G>A (p.Glu179Lys) | Inborn genetic diseases [RCV003276719] | uncertain significance | 5 | 134888126 | 134888126 | Human | 1 | name |
| 401884358 | CV2765899 | single nucleotide variant | NM_024715.4(TXNDC15):c.932T>C (p.Ile311Thr) | Inborn genetic diseases [RCV003351151] | uncertain significance | 5 | 134899534 | 134899534 | Human | 1 | name |
| 401859755 | CV2771823 | single nucleotide variant | NM_024715.4(TXNDC15):c.334G>A (p.Val112Ile) | Inborn genetic diseases [RCV003357211] | uncertain significance | 5 | 134887925 | 134887925 | Human | 1 | name |
| 405088393 | CV3047871 | single nucleotide variant | NM_024715.4(TXNDC15):c.383A>G (p.Glu128Gly) | Inborn genetic diseases [RCV004676259]|not provided [RCV003717561] | likely benign|uncertain significance | 5 | 134887974 | 134887974 | Human | 1 | name |
| 405813749 | CV3344873 | single nucleotide variant | NM_024715.4(TXNDC15):c.356C>T (p.Ala119Val) | Inborn genetic diseases [RCV004484006] | uncertain significance | 5 | 134887947 | 134887947 | Human | 1 | name |
| 405813751 | CV3344874 | single nucleotide variant | NM_024715.4(TXNDC15):c.424G>T (p.Asp142Tyr) | Inborn genetic diseases [RCV004484007] | uncertain significance | 5 | 134888015 | 134888015 | Human | 1 | name |
| 405813753 | CV3344875 | single nucleotide variant | NM_024715.4(TXNDC15):c.482C>T (p.Thr161Ile) | Inborn genetic diseases [RCV004484008] | uncertain significance | 5 | 134888073 | 134888073 | Human | 1 | name |
| 405813755 | CV3344876 | single nucleotide variant | NM_024715.4(TXNDC15):c.653C>T (p.Pro218Leu) | Inborn genetic diseases [RCV004484009] | uncertain significance | 5 | 134893553 | 134893553 | Human | 1 | name |
| 407522266 | CV3493144 | single nucleotide variant | NM_024715.4(TXNDC15):c.445A>G (p.Thr149Ala) | Inborn genetic diseases [RCV004677613] | uncertain significance | 5 | 134888036 | 134888036 | Human | 1 | name |
| 407522269 | CV3493145 | single nucleotide variant | NM_024715.4(TXNDC15):c.657G>C (p.Trp219Cys) | Inborn genetic diseases [RCV004677614] | uncertain significance | 5 | 134893557 | 134893557 | Human | 1 | name |
| 597635671 | CV3628877 | single nucleotide variant | NM_024715.4(TXNDC15):c.544A>G (p.Ile182Val) | Inborn genetic diseases [RCV004969678] | likely benign | 5 | 134888135 | 134888135 | Human | 1 | name |
| 597635679 | CV3628879 | single nucleotide variant | NM_024715.4(TXNDC15):c.500C>T (p.Thr167Ile) | Inborn genetic diseases [RCV004969680] | uncertain significance | 5 | 134888091 | 134888091 | Human | 1 | name |
| 597915398 | CV3814579 | single nucleotide variant | NM_024715.4(TXNDC15):c.682C>T (p.Pro228Ser) | not provided [RCV005154894] | uncertain significance | 5 | 134893582 | 134893582 | Human | | name |
| 598264187 | CV3932411 | single nucleotide variant | NM_024715.4(TXNDC15):c.430G>A (p.Glu144Lys) | Inborn genetic diseases [RCV005301489] | uncertain significance | 5 | 134888021 | 134888021 | Human | 1 | name |
| 21405312 | CV672018 | single nucleotide variant | NM_024715.4(TXNDC15):c.844C>T (p.Arg282Ter) | Meckel syndrome 14 [RCV002249537]|Meckel-Gruber syndrome [RCV001000089] | pathogenic | 5 | 134896382 | 134896382 | Human | 2 | name |
| 38466553 | CV920726 | single nucleotide variant | NM_024715.4(TXNDC15):c.379C>T (p.Arg127Ter) | not provided [RCV001200172] | pathogenic | 5 | 134887970 | 134887970 | Human | | name |
| 11558321 | CV260903 | deletion | NM_024715.4(TXNDC15):c.673_687del (p.Ser225_His229del) | Meckel syndrome 14 [RCV002248498]|Meckel-Gruber syndrome [RCV000256431] | pathogenic|likely pathogenic | 5 | 134893572 | 134893586 | Human | 2 | name |
| 156202550 | CV2021291 | duplication | NM_024715.4(TXNDC15):c.691_726dup (p.Phe242_Leu243insAsnSerLeuProArgAlaPheProAlaLeuHisPhe) | not provided [RCV002711452] | uncertain significance | 5 | 134893583 | 134893584 | Human | | name |
