| 405275065 | CV3199992 | single nucleotide variant | NM_001968.5(EIF4E):c.18+10G>T | EIF4E-related disorder [RCV003974003] | likely benign | 4 | 98929085 | 98929085 | Human | | name , trait , alternate_id |
| 15164200 | CV777409 | deletion | NM_001968.5(EIF4E):c.540-8del | not provided [RCV000948279] | benign | 4 | 98881150 | 98881150 | Human | | name |
| 15121958 | CV779043 | duplication | NM_001968.5(EIF4E):c.540-8dup | not provided [RCV000962989] | benign | 4 | 98881149 | 98881150 | Human | | name |
| 405288419 | CV3197430 | single nucleotide variant | NM_001968.5(EIF4E):c.18+120T>C | EIF4E-related disorder [RCV003982526] | benign | 4 | 98928975 | 98928975 | Human | | name , trait , alternate_id |
| 15111733 | CV721125 | single nucleotide variant | NM_001968.5(EIF4E):c.399+548A>G | not provided [RCV000894324] | likely benign | 4 | 98886531 | 98886531 | Human | | name |
| 329387924 | CV2468485 | single nucleotide variant | NM_001968.5(EIF4E):c.13G>A (p.Glu5Lys) | not specified [RCV004278068] | uncertain significance | 4 | 98929100 | 98929100 | Human | | name |
| 156047076 | CV2268726 | single nucleotide variant | NM_001968.5(EIF4E):c.85G>A (p.Ala29Thr) | not specified [RCV004124124] | uncertain significance | 4 | 98901916 | 98901916 | Human | | name |
| 405284317 | CV3196718 | single nucleotide variant | NM_001968.5(EIF4E):c.375C>T (p.Asp125=) | EIF4E-related disorder [RCV003979614] | benign | 4 | 98887103 | 98887103 | Human | | name , trait , alternate_id |
| 405719474 | CV3238631 | single nucleotide variant | NM_001968.5(EIF4E):c.98A>G (p.His33Arg) | not specified [RCV004377826] | uncertain significance | 4 | 98901903 | 98901903 | Human | | name |
| 155970338 | CV2309176 | single nucleotide variant | NM_001968.5(EIF4E):c.187A>G (p.Ile63Val) | not specified [RCV004171526] | uncertain significance | 4 | 98891271 | 98891271 | Human | | name |
| 401727785 | CV2678447 | single nucleotide variant | NM_001968.5(EIF4E):c.326G>T (p.Arg109Leu) | not specified [RCV004292467] | uncertain significance | 4 | 98887152 | 98887152 | Human | | name |
| 401750859 | CV2715787 | single nucleotide variant | NM_001968.5(EIF4E):c.502A>T (p.Thr168Ser) | not specified [RCV004328922] | uncertain significance | 4 | 98884959 | 98884959 | Human | | name |
| 401883630 | CV2785718 | single nucleotide variant | NM_001968.5(EIF4E):c.581T>C (p.Val194Ala) | not specified [RCV004364975] | uncertain significance | 4 | 98881101 | 98881101 | Human | | name |
| 407499029 | CV3438164 | single nucleotide variant | NM_001968.5(EIF4E):c.542G>T (p.Arg181Met) | not specified [RCV004622652] | uncertain significance | 4 | 98881140 | 98881140 | Human | | name |
| 598179421 | CV3961407 | single nucleotide variant | NM_001968.5(EIF4E):c.577A>G (p.Ile193Val) | not specified [RCV005332509] | uncertain significance | 4 | 98881105 | 98881105 | Human | | name |
| 150335507 | CV1166386 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2207-4A>T | not provided [RCV001531545] | uncertain significance | 22 | 31442122 | 31442122 | Human | | name |
| 405719491 | CV3238633 | single nucleotide variant | NM_004846.4(EIF4E2):c.19G>A (p.Ala7Thr) | not specified [RCV004377828] | uncertain significance | 2 | 232550743 | 232550743 | Human | | name |
| 15189732 | CV724042 | single nucleotide variant | NM_004096.5(EIF4EBP2):c.21C>T (p.Ser7=) | not provided [RCV000887903] | benign | 10 | 70404422 | 70404422 | Human | | name |
| 155931699 | CV2293662 | single nucleotide variant | NM_004096.5(EIF4EBP2):c.5C>T (p.Ser2Phe) | not specified [RCV004153166] | uncertain significance | 10 | 70404406 | 70404406 | Human | | name |
| 401881848 | CV2774633 | single nucleotide variant | NM_004846.4(EIF4E2):c.98C>T (p.Thr33Met) | not specified [RCV004350101] | uncertain significance | 2 | 232556493 | 232556493 | Human | | name |
| 156233149 | CV2346173 | single nucleotide variant | NM_004846.4(EIF4E2):c.152C>T (p.Pro51Leu) | not specified [RCV004201631] | uncertain significance | 2 | 232557900 | 232557900 | Human | | name |
| 405096177 | CV3022875 | single nucleotide variant | NM_004095.4(EIF4EBP1):c.237G>A (p.Pro79=) | not provided [RCV003700019] | likely benign | 8 | 38057172 | 38057172 | Human | | name |
| 405719484 | CV3238632 | single nucleotide variant | NM_004846.4(EIF4E2):c.163C>T (p.Pro55Ser) | not specified [RCV004377827] | uncertain significance | 2 | 232557911 | 232557911 | Human | | name |
| 405719496 | CV3238634 | single nucleotide variant | NM_004846.4(EIF4E2):c.208G>A (p.Gly70Ser) | not specified [RCV004377829] | uncertain significance | 2 | 232557956 | 232557956 | Human | | name |
| 405719508 | CV3238635 | single nucleotide variant | NM_004846.4(EIF4E2):c.295A>G (p.Ser99Gly) | not specified [RCV004377830] | uncertain significance | 2 | 232564271 | 232564271 | Human | | name |
| 15190325 | CV700583 | single nucleotide variant | NM_004095.4(EIF4EBP1):c.285G>A (p.Gln95=) | not provided [RCV000954441] | benign | 8 | 38057220 | 38057220 | Human | | name |
| 15097741 | CV701423 | single nucleotide variant | NM_004096.5(EIF4EBP2):c.17G>A (p.Gly6Asp) | not provided [RCV000958383] | likely benign | 10 | 70404418 | 70404418 | Human | | name |
| 150335510 | CV1166387 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.22G>T (p.Glu8Ter) | not provided [RCV001531546] | uncertain significance | 22 | 31488697 | 31488697 | Human | | name |
| 156278584 | CV2227574 | single nucleotide variant | NM_004846.4(EIF4E2):c.376G>A (p.Asp126Asn) | not specified [RCV004092215] | uncertain significance | 2 | 232566829 | 232566829 | Human | | name |
| 156294392 | CV2233638 | single nucleotide variant | NM_004846.4(EIF4E2):c.304G>A (p.Val102Ile) | not specified [RCV004100095] | uncertain significance | 2 | 232564280 | 232564280 | Human | | name |
| 156167405 | CV2237232 | single nucleotide variant | NM_004846.4(EIF4E2):c.691A>G (p.Arg231Gly) | not specified [RCV004114965] | uncertain significance | 2 | 232568970 | 232568970 | Human | | name |
| 155983908 | CV2273128 | single nucleotide variant | NM_004096.5(EIF4EBP2):c.95A>C (p.His32Pro) | not specified [RCV004137767] | uncertain significance | 10 | 70404496 | 70404496 | Human | | name |
| 156075372 | CV2291407 | single nucleotide variant | NM_004846.4(EIF4E2):c.575C>T (p.Thr192Ile) | not specified [RCV004155746] | uncertain significance | 2 | 232567124 | 232567124 | Human | | name |
| 156347434 | CV2315292 | single nucleotide variant | NM_004846.4(EIF4E2):c.308G>A (p.Arg103His) | not specified [RCV004167277] | uncertain significance | 2 | 232564284 | 232564284 | Human | | name |
| 156273865 | CV2319882 | single nucleotide variant | NM_001134651.2(EIF4E3):c.13C>T (p.Pro5Ser) | not specified [RCV004167764] | uncertain significance | 3 | 71725355 | 71725355 | Human | | name |
| 156037085 | CV2374037 | single nucleotide variant | NM_003732.3(EIF4EBP3):c.64A>C (p.Thr22Pro) | not specified [RCV004227162] | uncertain significance | 5 | 140547801 | 140547801 | Human | | name |
| 329360220 | CV2446648 | single nucleotide variant | NM_004846.4(EIF4E2):c.721C>T (p.Arg241Trp) | not specified [RCV004251536] | uncertain significance | 2 | 232569000 | 232569000 | Human | | name |
| 401742559 | CV2677620 | single nucleotide variant | NM_001134651.2(EIF4E3):c.17C>T (p.Ala6Val) | not specified [RCV004291715] | uncertain significance | 3 | 71725351 | 71725351 | Human | | name |
| 401874258 | CV2759142 | single nucleotide variant | NM_004095.4(EIF4EBP1):c.61G>A (p.Val21Met) | not specified [RCV004342440] | uncertain significance | 8 | 38030634 | 38030634 | Human | | name |
| 401886158 | CV2774850 | single nucleotide variant | NM_004846.4(EIF4E2):c.610C>T (p.Leu204Phe) | not specified [RCV004343935] | uncertain significance | 2 | 232567159 | 232567159 | Human | | name |
| 405719522 | CV3238637 | single nucleotide variant | NM_004846.4(EIF4E2):c.590G>A (p.Arg197Gln) | not specified [RCV004377832] | uncertain significance | 2 | 232567139 | 232567139 | Human | | name |
| 405719531 | CV3238638 | single nucleotide variant | NM_004846.4(EIF4E2):c.719C>G (p.Pro240Arg) | not specified [RCV004377833] | uncertain significance | 2 | 232568998 | 232568998 | Human | | name |
| 405719576 | CV3238644 | single nucleotide variant | NM_004095.4(EIF4EBP1):c.37C>T (p.Arg13Trp) | not specified [RCV004377839] | uncertain significance | 8 | 38030610 | 38030610 | Human | | name |
| 405719591 | CV3238646 | single nucleotide variant | NM_004096.5(EIF4EBP2):c.67G>A (p.Ala23Thr) | not specified [RCV004377841] | uncertain significance | 10 | 70404468 | 70404468 | Human | | name |
| 598179435 | CV3961410 | single nucleotide variant | NM_004846.4(EIF4E2):c.722G>A (p.Arg241Gln) | not specified [RCV005332512] | uncertain significance | 2 | 232569001 | 232569001 | Human | | name |
| 598179450 | CV3961413 | single nucleotide variant | NM_001134651.2(EIF4E3):c.11C>T (p.Pro4Leu) | not specified [RCV005332515] | uncertain significance | 3 | 71725357 | 71725357 | Human | | name |
| 155958264 | CV1936385 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.97G>A (p.Glu33Lys) | not provided [RCV002512197] | likely benign | 22 | 31471917 | 31471917 | Human | | name |
| 156258309 | CV2219967 | single nucleotide variant | NM_004096.5(EIF4EBP2):c.212C>T (p.Pro71Leu) | not specified [RCV004095580] | uncertain significance | 10 | 70419980 | 70419980 | Human | | name |
| 156387673 | CV2221575 | single nucleotide variant | NM_003732.3(EIF4EBP3):c.197G>A (p.Gly66Glu) | not specified [RCV004096836] | uncertain significance | 5 | 140548999 | 140548999 | Human | | name |
| 155977936 | CV2226495 | single nucleotide variant | NM_003732.3(EIF4EBP3):c.125G>A (p.Arg42Gln) | not specified [RCV004099695] | uncertain significance | 5 | 140548927 | 140548927 | Human | | name |
| 155980104 | CV2343407 | single nucleotide variant | NM_003732.3(EIF4EBP3):c.251A>T (p.Gln84Leu) | not specified [RCV004197487] | uncertain significance | 5 | 140549053 | 140549053 | Human | | name |
| 329377129 | CV2451745 | single nucleotide variant | NM_003732.3(EIF4EBP3):c.224T>C (p.Leu75Pro) | not specified [RCV004276438] | likely benign | 5 | 140549026 | 140549026 | Human | | name |
| 329396864 | CV2459030 | single nucleotide variant | NM_004095.4(EIF4EBP1):c.289C>T (p.His97Tyr) | not specified [RCV004272506] | uncertain significance | 8 | 38057224 | 38057224 | Human | | name |
| 401742486 | CV2673795 | single nucleotide variant | NM_001134651.2(EIF4E3):c.29C>G (p.Pro10Arg) | not specified [RCV004293179] | uncertain significance | 3 | 71725339 | 71725339 | Human | | name |
| 401782627 | CV2697128 | single nucleotide variant | NM_004096.5(EIF4EBP2):c.284T>G (p.Val95Gly) | not specified [RCV004302124] | uncertain significance | 10 | 70420052 | 70420052 | Human | | name |
| 401882735 | CV2778480 | single nucleotide variant | NM_001134651.2(EIF4E3):c.74C>T (p.Ala25Val) | not specified [RCV004344143] | uncertain significance | 3 | 71725294 | 71725294 | Human | | name |
| 405867538 | CV2842301 | single nucleotide variant | NM_003732.3(EIF4EBP3):c.117C>G (p.Ile39Met) | EBV-positive nodal T- and NK-cell lymphoma [RCV004560250] | likely benign | 5 | 140548919 | 140548919 | Human | | name |
| 405719572 | CV3238643 | single nucleotide variant | NM_004095.4(EIF4EBP1):c.248G>A (p.Ser83Asn) | not specified [RCV004377838] | uncertain significance | 8 | 38057183 | 38057183 | Human | | name |
| 405719584 | CV3238645 | single nucleotide variant | NM_004096.5(EIF4EBP2):c.161A>T (p.Tyr54Phe) | not specified [RCV004377840] | uncertain significance | 10 | 70419929 | 70419929 | Human | | name |
| 407499042 | CV3438167 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.16G>T (p.Val6Leu) | not specified [RCV004622655] | uncertain significance | 5 | 176643082 | 176643082 | Human | | name |
| 407499050 | CV3438169 | single nucleotide variant | NM_001134651.2(EIF4E3):c.41G>T (p.Arg14Leu) | not specified [RCV004622657] | uncertain significance | 3 | 71725327 | 71725327 | Human | | name |
| 407499058 | CV3438171 | single nucleotide variant | NM_001134651.2(EIF4E3):c.64G>A (p.Ala22Thr) | not specified [RCV004622659] | uncertain significance | 3 | 71725304 | 71725304 | Human | | name |
| 407479014 | CV3438173 | single nucleotide variant | NM_003732.3(EIF4EBP3):c.280G>A (p.Ala94Thr) | not specified [RCV004622661] | uncertain significance | 5 | 140549239 | 140549239 | Human | | name |
| 597664544 | CV3670631 | single nucleotide variant | NM_004096.5(EIF4EBP2):c.209C>A (p.Thr70Asn) | not specified [RCV004912338] | uncertain significance | 10 | 70419977 | 70419977 | Human | | name |
| 597746682 | CV3670632 | single nucleotide variant | NM_003732.3(EIF4EBP3):c.125G>T (p.Arg42Leu) | not specified [RCV004922744] | uncertain significance | 5 | 140548927 | 140548927 | Human | | name |
| 598179455 | CV3961414 | single nucleotide variant | NM_001134651.2(EIF4E3):c.53G>C (p.Gly18Ala) | not specified [RCV005332516] | uncertain significance | 3 | 71725315 | 71725315 | Human | | name |
| 598179465 | CV3961416 | single nucleotide variant | NM_001134651.2(EIF4E3):c.89C>A (p.Pro30Gln) | not specified [RCV005332518] | uncertain significance | 3 | 71725279 | 71725279 | Human | | name |
| 598179475 | CV3961418 | single nucleotide variant | NM_004096.5(EIF4EBP2):c.293T>G (p.Leu98Trp) | not specified [RCV005332520] | uncertain significance | 10 | 70420061 | 70420061 | Human | | name |
| 598179478 | CV3961419 | single nucleotide variant | NM_004096.5(EIF4EBP2):c.134C>A (p.Thr45Asn) | not specified [RCV005332521] | uncertain significance | 10 | 70404535 | 70404535 | Human | | name |
| 155913467 | CV2245855 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.256G>C (p.Glu86Gln) | not specified [RCV004111700] | uncertain significance | 22 | 31468217 | 31468217 | Human | | name |
| 156301120 | CV2307036 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.272G>A (p.Arg91Gln) | not specified [RCV004159534] | uncertain significance | 22 | 31468201 | 31468201 | Human | | name |
| 155913879 | CV2341877 | single nucleotide variant | NM_001134651.2(EIF4E3):c.152C>G (p.Ser51Trp) | not specified [RCV004184826] | uncertain significance | 3 | 71725216 | 71725216 | Human | | name |
| 155980560 | CV2343554 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.121C>A (p.Leu41Ile) | not specified [RCV004190588] | uncertain significance | 22 | 31471893 | 31471893 | Human | | name |
| 156281836 | CV2348808 | single nucleotide variant | NM_004096.5(EIF4EBP2):c.308A>G (p.Asn103Ser) | not specified [RCV004203254] | uncertain significance | 10 | 70420076 | 70420076 | Human | | name |
| 156049845 | CV2367396 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.55G>A (p.Glu19Lys) | not specified [RCV004209298] | likely benign | 5 | 176643121 | 176643121 | Human | | name |
| 405719997 | CV3238639 | single nucleotide variant | NM_001134651.2(EIF4E3):c.118C>G (p.Leu40Val) | not specified [RCV004377834] | uncertain significance | 3 | 71725250 | 71725250 | Human | | name |
| 405719546 | CV3238640 | single nucleotide variant | NM_001134651.2(EIF4E3):c.124C>T (p.Pro42Ser) | not specified [RCV004377835] | uncertain significance | 3 | 71725244 | 71725244 | Human | | name |
| 597746677 | CV3670630 | single nucleotide variant | NM_004096.5(EIF4EBP2):c.306C>A (p.Asn102Lys) | not specified [RCV004922743] | uncertain significance | 10 | 70420074 | 70420074 | Human | | name |
| 598179426 | CV3961408 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.489C>T (p.Ile163=) | not specified [RCV005332510] | likely benign | 5 | 176645391 | 176645391 | Human | | name |
| 15104262 | CV705888 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1404C>T (p.Ala468=) | not provided [RCV000959650] | benign | 22 | 31454252 | 31454252 | Human | | name |
| 15138712 | CV786582 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2949C>T (p.Tyr983=) | not provided [RCV000982516] | likely benign | 22 | 31439889 | 31439889 | Human | | name |
| 156371222 | CV2204510 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.201G>T (p.Arg67Ser) | not specified [RCV004079309] | uncertain significance | 5 | 176643639 | 176643639 | Human | | name |
| 156381128 | CV2218576 | single nucleotide variant | NM_001134651.2(EIF4E3):c.523G>A (p.Val175Ile) | not specified [RCV004090842] | uncertain significance | 3 | 71690115 | 71690115 | Human | | name |
| 156347142 | CV2297840 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.973G>T (p.Asp325Tyr) | not specified [RCV004157784] | uncertain significance | 22 | 31455978 | 31455978 | Human | | name |
| 156105545 | CV2307429 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.554G>A (p.Arg185Gln) | not specified [RCV004166099] | uncertain significance | 22 | 31463712 | 31463712 | Human | | name |
| 156163591 | CV2319643 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.883G>A (p.Ala295Thr) | not specified [RCV004185188] | uncertain significance | 22 | 31458555 | 31458555 | Human | | name |
| 156193899 | CV2350634 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.550G>A (p.Asp184Asn) | not specified [RCV004204974] | uncertain significance | 22 | 31463716 | 31463716 | Human | | name |
| 155918573 | CV2362641 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.817G>A (p.Glu273Lys) | not specified [RCV004215292] | uncertain significance | 22 | 31458621 | 31458621 | Human | | name |
| 329361670 | CV2437808 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.201G>C (p.Arg67Ser) | not specified [RCV004261105] | uncertain significance | 5 | 176643639 | 176643639 | Human | | name |
| 401739571 | CV2684108 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.764G>A (p.Arg255Gln) | not specified [RCV004295697] | uncertain significance | 22 | 31462955 | 31462955 | Human | | name |
| 401731146 | CV2707740 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.793G>A (p.Val265Ile) | not specified [RCV004306991] | uncertain significance | 22 | 31458645 | 31458645 | Human | | name |
| 401764670 | CV2728025 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.767G>A (p.Arg256Gln) | not specified [RCV004324150] | uncertain significance | 22 | 31462952 | 31462952 | Human | | name |
| 401877222 | CV2769379 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.152C>T (p.Thr51Met) | not specified [RCV004357368] | likely benign | 5 | 176643218 | 176643218 | Human | | name |
| 401890837 | CV2772222 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.763C>G (p.Arg255Gly) | not specified [RCV004346862] | uncertain significance | 22 | 31462956 | 31462956 | Human | | name |
| 405719561 | CV3238641 | single nucleotide variant | NM_001134651.2(EIF4E3):c.500G>A (p.Ser167Asn) | not specified [RCV004377836] | uncertain significance | 3 | 71690138 | 71690138 | Human | | name |
| 405719565 | CV3238642 | single nucleotide variant | NM_001134651.2(EIF4E3):c.661C>T (p.Arg221Cys) | not specified [RCV004377837] | uncertain significance | 3 | 71684696 | 71684696 | Human | | name |
| 405736573 | CV3238660 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.329T>C (p.Leu110Ser) | not specified [RCV004379929] | uncertain significance | 22 | 31463937 | 31463937 | Human | | name |
| 405737284 | CV3238661 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.403C>A (p.Arg135Ser) | not specified [RCV004379930] | uncertain significance | 22 | 31463863 | 31463863 | Human | | name |
| 405736588 | CV3238662 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.593T>C (p.Phe198Ser) | not specified [RCV004379931] | uncertain significance | 22 | 31463126 | 31463126 | Human | | name |
| 405736594 | CV3238663 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.608G>A (p.Arg203His) | not specified [RCV004379932] | uncertain significance | 22 | 31463111 | 31463111 | Human | | name |
| 405736600 | CV3238664 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.766C>G (p.Arg256Gly) | not specified [RCV004379933] | uncertain significance | 22 | 31462953 | 31462953 | Human | | name |
| 405736606 | CV3238665 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.826G>C (p.Glu276Gln) | not specified [RCV004379934] | uncertain significance | 22 | 31458612 | 31458612 | Human | | name |
| 407499047 | CV3438168 | single nucleotide variant | NM_001134651.2(EIF4E3):c.466G>A (p.Ala156Thr) | not specified [RCV004622656] | uncertain significance | 3 | 71693881 | 71693881 | Human | | name |
| 407499054 | CV3438170 | single nucleotide variant | NM_001134651.2(EIF4E3):c.354G>C (p.Glu118Asp) | not specified [RCV004622658] | uncertain significance | 3 | 71696511 | 71696511 | Human | | name |
| 407499062 | CV3438172 | single nucleotide variant | NM_001134651.2(EIF4E3):c.421G>C (p.Glu141Gln) | not specified [RCV004622660] | uncertain significance | 3 | 71693926 | 71693926 | Human | | name |
| 407499068 | CV3438175 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.404G>A (p.Arg135His) | not specified [RCV004622663] | uncertain significance | 22 | 31463862 | 31463862 | Human | | name |
| 407499083 | CV3438179 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.622C>T (p.Arg208Cys) | not specified [RCV004622667] | uncertain significance | 22 | 31463097 | 31463097 | Human | | name |
| 597665207 | CV3670624 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.102G>T (p.Lys34Asn) | not specified [RCV004912334] | uncertain significance | 5 | 176643168 | 176643168 | Human | | name |
| 597664518 | CV3670626 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.158G>T (p.Gly53Val) | not specified [RCV004912335] | uncertain significance | 5 | 176643224 | 176643224 | Human | | name |
| 597664525 | CV3670627 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.188C>T (p.Pro63Leu) | not specified [RCV004912336] | uncertain significance | 5 | 176643254 | 176643254 | Human | | name |
| 597746672 | CV3670629 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.131C>T (p.Ser44Phe) | not specified [RCV004922742] | uncertain significance | 5 | 176643197 | 176643197 | Human | | name |
| 597664554 | CV3670634 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.607C>T (p.Arg203Cys) | not specified [RCV004912339] | uncertain significance | 22 | 31463112 | 31463112 | Human | | name |
| 597664639 | CV3670646 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.460A>G (p.Arg154Gly) | not specified [RCV004912349] | uncertain significance | 22 | 31463806 | 31463806 | Human | | name |
| 598179440 | CV3961411 | single nucleotide variant | NM_001134651.2(EIF4E3):c.505C>T (p.Arg169Trp) | not specified [RCV005332513] | uncertain significance | 3 | 71690133 | 71690133 | Human | | name |
| 598179460 | CV3961415 | single nucleotide variant | NM_001134651.2(EIF4E3):c.601A>G (p.Ile201Val) | not specified [RCV005332517] | uncertain significance | 3 | 71690037 | 71690037 | Human | | name |
| 598179470 | CV3961417 | single nucleotide variant | NM_001134651.2(EIF4E3):c.499A>G (p.Ser167Gly) | not specified [RCV005332519] | uncertain significance | 3 | 71690139 | 71690139 | Human | | name |
| 598179512 | CV3961425 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.443G>A (p.Arg148His) | not specified [RCV005332527] | uncertain significance | 22 | 31463823 | 31463823 | Human | | name |
| 598179519 | CV3961426 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.601A>G (p.Ser201Gly) | not specified [RCV005332528] | uncertain significance | 22 | 31463118 | 31463118 | Human | | name |
| 150529200 | CV1288753 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2525A>C (p.Gln842Pro) | not provided [RCV001727221] | uncertain significance | 22 | 31441800 | 31441800 | Human | | name |
| 156276366 | CV2209772 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1415A>G (p.Asn472Ser) | not specified [RCV004083086] | uncertain significance | 22 | 31454241 | 31454241 | Human | | name |
| 156135430 | CV2213384 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.490G>C (p.Gly164Arg) | not specified [RCV004087369] | uncertain significance | 5 | 176645392 | 176645392 | Human | | name |
| 156334985 | CV2214849 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2242G>A (p.Asp748Asn) | not specified [RCV004090641] | uncertain significance | 22 | 31442083 | 31442083 | Human | | name |
| 156385017 | CV2231250 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1471A>G (p.Met491Val) | not specified [RCV004094447] | uncertain significance | 22 | 31454185 | 31454185 | Human | | name |
| 155968375 | CV2234281 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.457C>T (p.Arg153Trp) | not specified [RCV004106351] | uncertain significance | 5 | 176645226 | 176645226 | Human | | name |
| 156134630 | CV2235564 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.473C>T (p.Thr158Met) | not specified [RCV004109594] | uncertain significance | 5 | 176645242 | 176645242 | Human | | name |
| 156069578 | CV2237137 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2306C>T (p.Thr769Ile) | not specified [RCV004114887] | uncertain significance | 22 | 31442019 | 31442019 | Human | | name |
| 156172304 | CV2267867 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2795C>T (p.Ser932Leu) | not specified [RCV004136163] | uncertain significance | 22 | 31440043 | 31440043 | Human | | name |
| 156364798 | CV2271996 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1803T>G (p.Asp601Glu) | not specified [RCV004124805] | uncertain significance | 22 | 31448198 | 31448198 | Human | | name |
| 155964474 | CV2282848 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.646C>T (p.Pro216Ser) | not specified [RCV004143505] | uncertain significance | 5 | 176645897 | 176645897 | Human | | name |
| 155926078 | CV2287822 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.677C>T (p.Ala226Val) | not specified [RCV004143264] | uncertain significance | 5 | 176645928 | 176645928 | Human | | name |
| 156198431 | CV2312920 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.514A>G (p.Arg172Gly) | not specified [RCV004159432] | uncertain significance | 5 | 176645416 | 176645416 | Human | | name |
| 156049997 | CV2315899 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.616C>G (p.Arg206Gly) | not specified [RCV004171673] | uncertain significance | 5 | 176645867 | 176645867 | Human | | name |
| 156075166 | CV2331720 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2668G>A (p.Gly890Arg) | not specified [RCV004184347] | uncertain significance | 22 | 31440752 | 31440752 | Human | | name |
| 155916938 | CV2336237 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2564C>T (p.Pro855Leu) | not specified [RCV004191992] | uncertain significance | 22 | 31440856 | 31440856 | Human | | name |
| 156330376 | CV2339464 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.482G>A (p.Cys161Tyr) | not specified [RCV004194134] | uncertain significance | 5 | 176645384 | 176645384 | Human | | name |
| 156184905 | CV2346466 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1853G>A (p.Ser618Asn) | not specified [RCV004206391] | uncertain significance | 22 | 31447561 | 31447561 | Human | | name |
| 155928038 | CV2349938 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2194A>G (p.Lys732Glu) | not specified [RCV004206350] | uncertain significance | 22 | 31442974 | 31442974 | Human | | name |
| 156223545 | CV2355586 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1642A>G (p.Met548Val) | not specified [RCV004205430] | uncertain significance | 22 | 31449474 | 31449474 | Human | | name |
| 155902670 | CV2356506 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.509A>C (p.His170Pro) | not specified [RCV004199422] | uncertain significance | 5 | 176645411 | 176645411 | Human | | name |
| 155988540 | CV2363997 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1511G>A (p.Ser504Asn) | not specified [RCV004218963] | uncertain significance | 22 | 31454145 | 31454145 | Human | | name |
| 156385028 | CV2371674 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1721G>T (p.Arg574Leu) | not specified [RCV004216912] | uncertain significance | 22 | 31449395 | 31449395 | Human | | name |
| 156044594 | CV2381645 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2030G>A (p.Gly677Glu) | not specified [RCV004232116] | uncertain significance | 22 | 31444649 | 31444649 | Human | | name |
| 155929151 | CV2389080 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.584C>T (p.Ala195Val) | not specified [RCV004235418] | uncertain significance | 5 | 176645486 | 176645486 | Human | | name |
| 329357289 | CV2453527 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1258A>G (p.Lys420Glu) | not specified [RCV004269212] | uncertain significance | 22 | 31455157 | 31455157 | Human | | name |
| 401773381 | CV2698193 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1499A>T (p.Gln500Leu) | not specified [RCV004304761] | uncertain significance | 22 | 31454157 | 31454157 | Human | | name |
| 401770687 | CV2707348 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2159A>T (p.Lys720Ile) | not specified [RCV004312746] | uncertain significance | 22 | 31443009 | 31443009 | Human | | name |
| 401757671 | CV2707907 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1877C>G (p.Ala626Gly) | not specified [RCV004309173] | uncertain significance | 22 | 31447537 | 31447537 | Human | | name |
| 401753954 | CV2716944 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1721G>A (p.Arg574Gln) | not specified [RCV004330033] | uncertain significance | 22 | 31449395 | 31449395 | Human | | name |
| 401753969 | CV2719187 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1745G>A (p.Arg582His) | not specified [RCV004324849] | uncertain significance | 22 | 31449371 | 31449371 | Human | | name |
| 401876976 | CV2764249 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2831G>A (p.Arg944His) | not specified [RCV004336785] | uncertain significance | 22 | 31440007 | 31440007 | Human | | name |
| 401860745 | CV2776172 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2017C>A (p.Pro673Thr) | not specified [RCV004353257] | uncertain significance | 22 | 31444662 | 31444662 | Human | | name |
| 401869606 | CV2782423 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.719T>C (p.Phe240Ser) | not specified [RCV004365156] | uncertain significance | 5 | 176645970 | 176645970 | Human | | name |
| 401894462 | CV2788068 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.637G>A (p.Gly213Ser) | not specified [RCV004352701] | uncertain significance | 5 | 176645888 | 176645888 | Human | | name |
| 405719598 | CV3238647 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1072C>T (p.Pro358Ser) | not specified [RCV004377842] | uncertain significance | 22 | 31455879 | 31455879 | Human | | name |
| 405719611 | CV3238649 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1625A>G (p.Asn542Ser) | not specified [RCV004377844] | uncertain significance | 22 | 31449491 | 31449491 | Human | | name |
| 405719623 | CV3238650 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1634G>C (p.Ser545Thr) | not specified [RCV004377845] | uncertain significance | 22 | 31449482 | 31449482 | Human | | name |
| 405719633 | CV3238651 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1648A>G (p.Ser550Gly) | not specified [RCV004377846] | uncertain significance | 22 | 31449468 | 31449468 | Human | | name |
| 405719640 | CV3238652 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1690T>G (p.Ser564Ala) | not specified [RCV004377847] | uncertain significance | 22 | 31449426 | 31449426 | Human | | name |
| 405719648 | CV3238653 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1774A>T (p.Thr592Ser) | not specified [RCV004377848] | uncertain significance | 22 | 31448227 | 31448227 | Human | | name |
| 405719659 | CV3238654 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1931A>T (p.Tyr644Phe) | not specified [RCV004377849] | uncertain significance | 22 | 31447483 | 31447483 | Human | | name |
| 405719665 | CV3238655 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2267A>G (p.Asn756Ser) | not specified [RCV004377850] | uncertain significance | 22 | 31442058 | 31442058 | Human | | name |
| 405719672 | CV3238656 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2416C>T (p.Arg806Cys) | not specified [RCV004377851] | uncertain significance | 22 | 31441909 | 31441909 | Human | | name |
| 405719685 | CV3238657 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2417G>A (p.Arg806His) | not specified [RCV004377852] | uncertain significance | 22 | 31441908 | 31441908 | Human | | name |
| 405736558 | CV3238658 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2648C>T (p.Pro883Leu) | not specified [RCV004379927] | uncertain significance | 22 | 31440772 | 31440772 | Human | | name |
| 405736567 | CV3238659 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2815T>G (p.Ser939Ala) | not specified [RCV004379928] | uncertain significance | 22 | 31440023 | 31440023 | Human | | name |
| 407499034 | CV3438165 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.617G>T (p.Arg206Leu) | not specified [RCV004622653] | uncertain significance | 5 | 176645868 | 176645868 | Human | | name |
| 407499038 | CV3438166 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.659T>C (p.Ile220Thr) | not specified [RCV004622654] | uncertain significance | 5 | 176645910 | 176645910 | Human | | name |
| 407499065 | CV3438174 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1244G>A (p.Ser415Asn) | not specified [RCV004622662] | uncertain significance | 22 | 31455171 | 31455171 | Human | | name |
| 407499073 | CV3438176 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2492T>C (p.Val831Ala) | not specified [RCV004622664] | uncertain significance | 22 | 31441833 | 31441833 | Human | | name |
| 407499076 | CV3438177 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2200A>G (p.Ser734Gly) | not specified [RCV004622665] | uncertain significance | 22 | 31442968 | 31442968 | Human | | name |
| 407499080 | CV3438178 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2435C>T (p.Pro812Leu) | not specified [RCV004622666] | uncertain significance | 22 | 31441890 | 31441890 | Human | | name |
| 407499088 | CV3438180 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1136C>T (p.Ser379Leu) | not specified [RCV004622668] | uncertain significance | 22 | 31455279 | 31455279 | Human | | name |
| 597746667 | CV3670625 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.577A>G (p.Arg193Gly) | not specified [RCV004922741] | uncertain significance | 5 | 176645479 | 176645479 | Human | | name |
| 597664534 | CV3670628 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.579G>T (p.Arg193Ser) | not specified [RCV004912337] | uncertain significance | 5 | 176645481 | 176645481 | Human | | name |
| 597746686 | CV3670633 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1718C>T (p.Thr573Ile) | not specified [RCV004922745] | uncertain significance | 22 | 31449398 | 31449398 | Human | | name |
| 597664562 | CV3670635 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2662C>T (p.Arg888Cys) | not specified [RCV004912340] | uncertain significance | 22 | 31440758 | 31440758 | Human | | name |
| 597664570 | CV3670636 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1418G>A (p.Arg473Gln) | not specified [RCV004912341] | uncertain significance | 22 | 31454238 | 31454238 | Human | | name |
| 597664578 | CV3670637 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1275A>T (p.Glu425Asp) | not specified [RCV004912342] | uncertain significance | 22 | 31455140 | 31455140 | Human | | name |
| 597664587 | CV3670638 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2836A>C (p.Ser946Arg) | not specified [RCV004912343] | uncertain significance | 22 | 31440002 | 31440002 | Human | | name |
| 597664595 | CV3670639 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2689A>G (p.Met897Val) | not specified [RCV004912344] | uncertain significance | 22 | 31440731 | 31440731 | Human | | name |
| 597664604 | CV3670640 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2423T>C (p.Val808Ala) | not specified [RCV004912345] | uncertain significance | 22 | 31441902 | 31441902 | Human | | name |
| 597664612 | CV3670642 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1123C>G (p.Pro375Ala) | not specified [RCV004912346] | uncertain significance | 22 | 31455292 | 31455292 | Human | | name |
| 597746689 | CV3670643 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2761G>C (p.Val921Leu) | not specified [RCV004922746] | uncertain significance | 22 | 31440077 | 31440077 | Human | | name |
| 597664620 | CV3670644 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2431G>A (p.Val811Ile) | not specified [RCV004912347] | uncertain significance | 22 | 31441894 | 31441894 | Human | | name |
| 597664629 | CV3670645 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2372A>G (p.Lys791Arg) | not specified [RCV004912348] | uncertain significance | 22 | 31441953 | 31441953 | Human | | name |
| 597746694 | CV3670647 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2211C>G (p.Asn737Lys) | not specified [RCV004922747] | uncertain significance | 22 | 31442114 | 31442114 | Human | | name |
| 598179431 | CV3961409 | single nucleotide variant | NM_001099408.2(EIF4E1B):c.370C>G (p.Gln124Glu) | not specified [RCV005332511] | likely benign | 5 | 176645139 | 176645139 | Human | | name |
| 598179483 | CV3961420 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2738G>C (p.Gly913Ala) | not specified [RCV005332522] | uncertain significance | 22 | 31440100 | 31440100 | Human | | name |
| 598179494 | CV3961422 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1405G>A (p.Val469Ile) | not specified [RCV005332524] | uncertain significance | 22 | 31454251 | 31454251 | Human | | name |
| 598179500 | CV3961423 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2527C>T (p.His843Tyr) | not specified [RCV005332525] | uncertain significance | 22 | 31441798 | 31441798 | Human | | name |
| 598179506 | CV3961424 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2626C>T (p.Pro876Ser) | not specified [RCV005332526] | uncertain significance | 22 | 31440794 | 31440794 | Human | | name |
| 598179526 | CV3961427 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2312T>C (p.Leu771Pro) | not specified [RCV005332529] | uncertain significance | 22 | 31442013 | 31442013 | Human | | name |
| 598179533 | CV3961428 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1262A>T (p.Glu421Val) | not specified [RCV005332530] | uncertain significance | 22 | 31455153 | 31455153 | Human | | name |
| 598179537 | CV3961429 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.2665C>T (p.Pro889Ser) | not specified [RCV005332531] | uncertain significance | 22 | 31440755 | 31440755 | Human | | name |
| 15106646 | CV758043 | single nucleotide variant | NM_019843.4(EIF4ENIF1):c.1660A>C (p.Thr554Pro) | not provided [RCV000915793] | benign | 22 | 31449456 | 31449456 | Human | | name |
| 401925393 | CV2828035 | single nucleotide variant | NM_020690.6(ANKHD1-EIF4EBP3):c.1590T>C (p.Asp530=) | not provided [RCV003436460] | likely benign | 5 | 140459273 | 140459273 | Human | | name |
| 156285218 | CV2349081 | single nucleotide variant | NM_020690.6(ANKHD1-EIF4EBP3):c.518G>A (p.Arg173Gln) | not specified [RCV004205518] | uncertain significance | 5 | 140438518 | 140438518 | Human | | name |
| 598162633 | CV3984193 | single nucleotide variant | NM_020690.6(ANKHD1-EIF4EBP3):c.2218T>G (p.Ser740Ala) | not specified [RCV005368679] | uncertain significance | 5 | 140487033 | 140487033 | Human | | name |
| 155926800 | CV2208292 | single nucleotide variant | NM_020690.6(ANKHD1-EIF4EBP3):c.4663C>T (p.Pro1555Ser) | not specified [RCV004088732] | uncertain significance | 5 | 140526166 | 140526166 | Human | | name |
| 155924746 | CV2211639 | single nucleotide variant | NM_020690.6(ANKHD1-EIF4EBP3):c.7771C>T (p.Arg2591Trp) | not specified [RCV004084532] | uncertain significance | 5 | 140548997 | 140548997 | Human | | name |
| 156328061 | CV2217408 | single nucleotide variant | NM_020690.6(ANKHD1-EIF4EBP3):c.7651C>T (p.Arg2551Trp) | not specified [RCV004087840] | uncertain significance | 5 | 140542253 | 140542253 | Human | | name |
| 155965001 | CV2308446 | single nucleotide variant | NM_020690.6(ANKHD1-EIF4EBP3):c.6791A>G (p.Asp2264Gly) | not specified [RCV004166741] | uncertain significance | 5 | 140529737 | 140529737 | Human | | name |
| 156176195 | CV2331151 | single nucleotide variant | NM_020690.6(ANKHD1-EIF4EBP3):c.7618C>G (p.Pro2540Ala) | not specified [RCV004181760] | uncertain significance | 5 | 140542220 | 140542220 | Human | | name |
| 155934785 | CV2372537 | single nucleotide variant | NM_020690.6(ANKHD1-EIF4EBP3):c.7583C>T (p.Pro2528Leu) | not specified [RCV004219331] | uncertain significance | 5 | 140542185 | 140542185 | Human | | name |
| 329401812 | CV2457454 | single nucleotide variant | NM_020690.6(ANKHD1-EIF4EBP3):c.7702A>C (p.Lys2568Gln) | not specified [RCV004267276] | uncertain significance | 5 | 140548928 | 140548928 | Human | | name |
| 401752290 | CV2723185 | single nucleotide variant | NM_020690.6(ANKHD1-EIF4EBP3):c.7831G>A (p.Asp2611Asn) | not specified [RCV004329427] | uncertain significance | 5 | 140549057 | 140549057 | Human | | name |
| 405810182 | CV3288120 | single nucleotide variant | NM_020690.6(ANKHD1-EIF4EBP3):c.7618C>A (p.Pro2540Thr) | not specified [RCV004407890] | uncertain significance | 5 | 140542220 | 140542220 | Human | | name |
| 405810186 | CV3288122 | single nucleotide variant | NM_020690.6(ANKHD1-EIF4EBP3):c.7636A>G (p.Lys2546Glu) | not specified [RCV004407892] | uncertain significance | 5 | 140542238 | 140542238 | Human | | name |
| 405810208 | CV3288132 | single nucleotide variant | NM_020690.6(ANKHD1-EIF4EBP3):c.7681C>A (p.His2561Asn) | not specified [RCV004407902] | uncertain significance | 5 | 140548907 | 140548907 | Human | | name |
| 405810219 | CV3288137 | single nucleotide variant | NM_020690.6(ANKHD1-EIF4EBP3):c.7700C>T (p.Pro2567Leu) | not specified [RCV004407907] | uncertain significance | 5 | 140548926 | 140548926 | Human | | name |
| 597623792 | CV3694226 | single nucleotide variant | NM_020690.6(ANKHD1-EIF4EBP3):c.7589T>G (p.Val2530Gly) | not specified [RCV004936812] | uncertain significance | 5 | 140542191 | 140542191 | Human | | name |
| 597623802 | CV3694236 | single nucleotide variant | NM_020690.6(ANKHD1-EIF4EBP3):c.7217A>G (p.Asn2406Ser) | not specified [RCV004936822] | uncertain significance | 5 | 140537578 | 140537578 | Human | | name |
| 597623813 | CV3694247 | single nucleotide variant | NM_020690.6(ANKHD1-EIF4EBP3):c.7628C>G (p.Thr2543Ser) | not specified [RCV004936833] | uncertain significance | 5 | 140542230 | 140542230 | Human | | name |