| 8568521 | CV39658 | deletion | FANCL, 3-BP DEL, 1007TAT | Fanconi anemia complementation group L [RCV000023679] | pathogenic | | | | Human | | name |
| 8568522 | CV39659 | duplication | FANCL, 4-BP DUP, 1095AATT | Fanconi anemia complementation group L [RCV000023680] | pathogenic | | | | Human | | name |
| 126735988 | CV1019674 | single nucleotide variant | NM_018062.4(FANCL):c.-3G>C | Fanconi anemia complementation group L [RCV001334975]|not specified [RCV001820029] | uncertain significance | 2 | 58241316 | 58241316 | Human | 1 | name |
| 151354006 | CV1327558 | single nucleotide variant | NM_018062.4(FANCL):c.-5G>C | not specified [RCV001817502] | uncertain significance | 2 | 58241318 | 58241318 | Human | | name |
| 28891922 | CV885239 | single nucleotide variant | NM_018062.4(FANCL):c.*95A>G | Fanconi anemia complementation group L [RCV001139584]|not provided [RCV001537367] | benign|likely benign | 2 | 58159670 | 58159670 | Human | 1 | name |
| 28891926 | CV885240 | single nucleotide variant | NM_018062.4(FANCL):c.*89C>T | Fanconi anemia complementation group L [RCV001139585] | uncertain significance | 2 | 58159676 | 58159676 | Human | 1 | name |
| 151842447 | CV1359334 | single nucleotide variant | NM_018062.4(FANCL):c.96+4C>A | Fanconi anemia [RCV002015502] | uncertain significance | 2 | 58241214 | 58241214 | Human | 1 | name |
| 152089644 | CV1580695 | single nucleotide variant | NM_018062.4(FANCL):c.97-4A>T | Fanconi anemia [RCV002093992] | likely benign | 2 | 58232116 | 58232116 | Human | 1 | name |
| 156440626 | CV1943679 | single nucleotide variant | NM_018062.4(FANCL):c.97-7T>C | Fanconi anemia [RCV003110662]|not provided [RCV003329472] | likely benign|uncertain significance | 2 | 58232119 | 58232119 | Human | 1 | name |
| 11590276 | CV290403 | single nucleotide variant | NM_018062.4(FANCL):c.*165A>G | Fanconi anemia complementation group L [RCV000317720] | uncertain significance | 2 | 58159600 | 58159600 | Human | 1 | name |
| 402490181 | CV2906740 | single nucleotide variant | NM_018062.4(FANCL):c.96+8C>T | Fanconi anemia [RCV003523606] | likely benign | 2 | 58241210 | 58241210 | Human | 1 | name |
| 402489616 | CV2926177 | single nucleotide variant | NM_018062.4(FANCL):c.96+2T>A | Fanconi anemia [RCV003522639] | likely pathogenic | 2 | 58241216 | 58241216 | Human | 1 | name |
| 405039462 | CV3020177 | single nucleotide variant | NM_018062.4(FANCL):c.96+2T>C | Fanconi anemia [RCV003635544] | likely pathogenic | 2 | 58241216 | 58241216 | Human | 1 | name |
| 405252059 | CV3177581 | single nucleotide variant | NM_018062.4(FANCL):c.96+8C>G | Fanconi anemia [RCV003870539] | likely benign | 2 | 58241210 | 58241210 | Human | 1 | name |
| 597922463 | CV3775701 | single nucleotide variant | NM_018062.4(FANCL):c.96+9C>G | Fanconi anemia [RCV005115416] | likely benign | 2 | 58241209 | 58241209 | Human | 1 | name |
| 28884847 | CV885234 | single nucleotide variant | NM_018062.4(FANCL):c.*515A>C | Fanconi anemia complementation group L [RCV001137353] | uncertain significance | 2 | 58159250 | 58159250 | Human | 1 | name |
| 28884851 | CV885235 | single nucleotide variant | NM_018062.4(FANCL):c.*434A>G | Fanconi anemia complementation group L [RCV001137354] | uncertain significance | 2 | 58159331 | 58159331 | Human | 1 | name |
| 28891908 | CV885236 | single nucleotide variant | NM_018062.4(FANCL):c.*281C>G | Fanconi anemia complementation group L [RCV001139581] | uncertain significance | 2 | 58159484 | 58159484 | Human | 1 | name |
| 28891912 | CV885237 | single nucleotide variant | NM_018062.4(FANCL):c.*165A>C | Fanconi anemia complementation group L [RCV001139582] | uncertain significance | 2 | 58159600 | 58159600 | Human | 1 | name |
| 28891916 | CV885238 | single nucleotide variant | NM_018062.4(FANCL):c.*128G>A | Fanconi anemia complementation group L [RCV001139583] | uncertain significance | 2 | 58159637 | 58159637 | Human | 1 | name |
| 38482914 | CV939906 | single nucleotide variant | NM_018062.4(FANCL):c.96+3A>T | Fanconi anemia [RCV001207450]|not provided [RCV002281168] | uncertain significance | 2 | 58241215 | 58241215 | Human | 1 | name |
| 126759456 | CV988917 | single nucleotide variant | NM_018062.4(FANCL):c.96+6C>T | Fanconi anemia [RCV001309024] | uncertain significance | 2 | 58241212 | 58241212 | Human | 1 | name |
| 126763423 | CV1004186 | single nucleotide variant | NM_018062.4(FANCL):c.374+3A>G | Fanconi anemia [RCV001319238]|Fanconi anemia complementation group L [RCV005023032] | uncertain significance | 2 | 58221939 | 58221939 | Human | 2 | name |
| 126917980 | CV1041620 | single nucleotide variant | NM_018062.4(FANCL):c.775+3A>T | Fanconi anemia [RCV001372389] | uncertain significance | 2 | 58163431 | 58163431 | Human | 1 | name |
| 127248540 | CV1055256 | single nucleotide variant | NM_018062.4(FANCL):c.472-1G>C | Fanconi anemia [RCV001377977]|Fanconi anemia complementation group L [RCV003462954]|not provided [RCV001838514] | pathogenic|likely pathogenic | 2 | 58198663 | 58198663 | Human | 2 | name |
| 127335926 | CV1133905 | single nucleotide variant | NM_018062.4(FANCL):c.155+9G>C | Fanconi anemia [RCV001491801]|Fanconi anemia complementation group L [RCV005023175] | likely benign | 2 | 58232045 | 58232045 | Human | 2 | name |
| 127305573 | CV1154184 | duplication | NM_018062.4(FANCL):c.541-6dup | Fanconi anemia [RCV001516325] | benign | 2 | 58165879 | 58165880 | Human | 1 | name |
| 151235999 | CV1319429 | single nucleotide variant | NM_018062.4(FANCL):c.156-8A>G | not provided [RCV001797374] | uncertain significance | 2 | 58229882 | 58229882 | Human | | name |
| 151782148 | CV1369791 | single nucleotide variant | NM_018062.4(FANCL):c.155+4A>G | Fanconi anemia [RCV001930541] | uncertain significance | 2 | 58232050 | 58232050 | Human | 1 | name |
| 151719121 | CV1373646 | single nucleotide variant | NM_018062.4(FANCL):c.691+3A>G | Fanconi anemia [RCV001890807] | uncertain significance | 2 | 58165721 | 58165721 | Human | 1 | name |
| 151851072 | CV1378079 | deletion | NM_018062.4(FANCL):c.904-9del | Fanconi anemia [RCV002016592] | likely benign|uncertain significance | 2 | 58161647 | 58161647 | Human | 1 | name |
| 151763776 | CV1403057 | single nucleotide variant | NM_018062.4(FANCL):c.541-3C>T | Fanconi anemia [RCV001914288] | uncertain significance | 2 | 58165877 | 58165877 | Human | 1 | name |
| 151867325 | CV1422595 | single nucleotide variant | NM_018062.4(FANCL):c.776-6C>G | Fanconi anemia [RCV001884697] | uncertain significance | 2 | 58163080 | 58163080 | Human | 1 | name |
| 151780474 | CV1442853 | single nucleotide variant | NM_018062.4(FANCL):c.904-1G>A | Fanconi anemia [RCV002009693] | likely pathogenic | 2 | 58161639 | 58161639 | Human | 1 | name |
| 151755645 | CV1498922 | single nucleotide variant | NM_018062.4(FANCL):c.273+1G>C | Fanconi anemia [RCV002023826]|Fanconi anemia complementation group L [RCV002498060] | likely pathogenic|conflicting interpretations of pathogenicity | 2 | 58226727 | 58226727 | Human | 2 | name |
| 151718812 | CV1505742 | single nucleotide variant | NM_018062.4(FANCL):c.217-4C>A | Fanconi anemia [RCV002039755] | likely benign|uncertain significance | 2 | 58226788 | 58226788 | Human | 1 | name |
| 152027606 | CV1520914 | single nucleotide variant | NM_018062.4(FANCL):c.904-7T>G | Fanconi anemia [RCV002085185] | likely benign | 2 | 58161645 | 58161645 | Human | 1 | name |
| 152091622 | CV1528798 | single nucleotide variant | NM_018062.4(FANCL):c.97-11A>G | Fanconi anemia [RCV002094262]|Fanconi anemia complementation group L [RCV002500146] | likely benign | 2 | 58232123 | 58232123 | Human | 2 | name |
| 152171302 | CV1552688 | single nucleotide variant | NM_018062.4(FANCL):c.97-15C>T | Fanconi anemia [RCV002143403] | likely benign | 2 | 58232127 | 58232127 | Human | 1 | name |
| 152139020 | CV1562747 | single nucleotide variant | NM_018062.4(FANCL):c.471+9C>G | Fanconi anemia [RCV002100510] | likely benign | 2 | 58204121 | 58204121 | Human | 1 | name |
| 152088389 | CV1562920 | single nucleotide variant | NM_018062.4(FANCL):c.691+8C>T | Fanconi anemia [RCV002113733] | likely benign | 2 | 58165716 | 58165716 | Human | 1 | name |
| 152175228 | CV1586256 | deletion | NM_018062.4(FANCL):c.541-5del | Fanconi anemia [RCV002184790] | likely benign | 2 | 58165879 | 58165879 | Human | 1 | name |
| 152082616 | CV1589610 | single nucleotide variant | NM_018062.4(FANCL):c.776-9A>T | Fanconi anemia [RCV002112959] | likely benign | 2 | 58163083 | 58163083 | Human | 1 | name |
| 152058778 | CV1597289 | single nucleotide variant | NM_018062.4(FANCL):c.375-6C>T | Fanconi anemia [RCV002128097] | likely benign | 2 | 58204232 | 58204232 | Human | 1 | name |
| 152172364 | CV1599093 | single nucleotide variant | NM_018062.4(FANCL):c.375-5A>T | Fanconi anemia [RCV002143753] | likely benign | 2 | 58204231 | 58204231 | Human | 1 | name |
| 152043405 | CV1624396 | single nucleotide variant | NM_018062.4(FANCL):c.692-6T>C | Fanconi anemia [RCV002126380] | likely benign | 2 | 58163523 | 58163523 | Human | 1 | name |
| 152126127 | CV1630382 | single nucleotide variant | NM_018062.4(FANCL):c.822-4T>G | Fanconi anemia [RCV002154898] | likely benign | 2 | 58162951 | 58162951 | Human | 1 | name |
| 152151345 | CV1631360 | single nucleotide variant | NM_018062.4(FANCL):c.904-8T>G | Fanconi anemia [RCV002179498] | likely benign | 2 | 58161646 | 58161646 | Human | 1 | name |
| 156419254 | CV1923112 | deletion | NM_018062.4(FANCL):c.903+1del | Fanconi anemia [RCV002612477]|Fanconi anemia complementation group L [RCV003459763] | likely pathogenic | 2 | 58162865 | 58162865 | Human | 2 | name |
| 156231161 | CV1956006 | single nucleotide variant | NM_018062.4(FANCL):c.216+8C>G | Fanconi anemia [RCV002575877] | likely benign | 2 | 58229806 | 58229806 | Human | 1 | name |
| 156375915 | CV1960300 | single nucleotide variant | NM_018062.4(FANCL):c.903+6T>A | Fanconi anemia [RCV002582797] | uncertain significance | 2 | 58162860 | 58162860 | Human | 1 | name |
| 155904708 | CV1975915 | single nucleotide variant | NM_018062.4(FANCL):c.96+11A>G | Fanconi anemia [RCV002613604] | likely benign | 2 | 58241207 | 58241207 | Human | 1 | name |
| 156345513 | CV1989075 | single nucleotide variant | NM_018062.4(FANCL):c.692-4C>A | Fanconi anemia [RCV002631659] | likely benign | 2 | 58163521 | 58163521 | Human | 1 | name |
| 156327781 | CV1990680 | single nucleotide variant | NM_018062.4(FANCL):c.541-4A>G | Fanconi anemia [RCV002630752] | likely benign | 2 | 58165878 | 58165878 | Human | 1 | name |
| 156221495 | CV2037710 | single nucleotide variant | NM_018062.4(FANCL):c.156-3T>G | Fanconi anemia [RCV002790643] | uncertain significance | 2 | 58229877 | 58229877 | Human | 1 | name |
| 156133604 | CV2081234 | single nucleotide variant | NM_018062.4(FANCL):c.541-2A>C | Fanconi anemia [RCV002871725] | likely pathogenic | 2 | 58165876 | 58165876 | Human | 1 | name |
| 156112328 | CV2088247 | duplication | NM_018062.4(FANCL):c.273+7dup | Fanconi anemia [RCV002889239] | likely benign | 2 | 58226720 | 58226721 | Human | 1 | name |
| 156044318 | CV2094278 | single nucleotide variant | NM_018062.4(FANCL):c.904-4G>C | Fanconi anemia [RCV002885935] | likely benign | 2 | 58161642 | 58161642 | Human | 1 | name |
| 11349337 | CV238968 | single nucleotide variant | NM_018062.4(FANCL):c.156-8A>C | Fanconi anemia [RCV001446490] | likely benign | 2 | 58229882 | 58229882 | Human | 1 | name |
| 401940572 | CV2835780 | single nucleotide variant | NM_018062.4(FANCL):c.217-2A>G | Fanconi anemia [RCV003523181]|Fanconi anemia complementation group L [RCV003466080]|not provided [RCV003457068] | pathogenic|likely pathogenic|uncertain significance | 2 | 58226786 | 58226786 | Human | 2 | name |
| 402490053 | CV2854764 | single nucleotide variant | NM_018062.4(FANCL):c.97-20C>G | Fanconi anemia [RCV003523357] | likely benign | 2 | 58232132 | 58232132 | Human | 1 | name |
| 402490339 | CV2860336 | single nucleotide variant | NM_018062.4(FANCL):c.541-5C>T | Fanconi anemia [RCV003524104] | likely benign | 2 | 58165879 | 58165879 | Human | 1 | name |
| 402489426 | CV2873086 | single nucleotide variant | NM_018062.4(FANCL):c.691+9A>G | Fanconi anemia [RCV003522214] | likely benign | 2 | 58165715 | 58165715 | Human | 1 | name |
| 402490409 | CV2875295 | single nucleotide variant | NM_018062.4(FANCL):c.471+2T>C | Fanconi anemia [RCV003524285]|Fanconi anemia complementation group L [RCV004574067] | likely pathogenic | 2 | 58204128 | 58204128 | Human | 2 | name |
| 402490604 | CV2882574 | single nucleotide variant | NM_018062.4(FANCL):c.216+9T>C | Fanconi anemia [RCV003524906] | likely benign | 2 | 58229805 | 58229805 | Human | 1 | name |
| 402490654 | CV2883137 | single nucleotide variant | NM_018062.4(FANCL):c.471+1G>A | Fanconi anemia [RCV003525005] | likely pathogenic | 2 | 58204129 | 58204129 | Human | 1 | name |
| 402490687 | CV2893518 | duplication | NM_018062.4(FANCL):c.776-8dup | Fanconi anemia [RCV003525095] | likely benign | 2 | 58163081 | 58163082 | Human | 1 | name |
| 402490476 | CV2919831 | single nucleotide variant | NM_018062.4(FANCL):c.216+7C>G | Fanconi anemia [RCV003524482] | likely benign | 2 | 58229807 | 58229807 | Human | 1 | name |
| 405041097 | CV2971071 | single nucleotide variant | NM_018062.4(FANCL):c.96+12G>A | Fanconi anemia [RCV003636976] | likely benign | 2 | 58241206 | 58241206 | Human | 1 | name |
| 405041059 | CV2971923 | single nucleotide variant | NM_018062.4(FANCL):c.155+8G>A | Fanconi anemia [RCV003637028] | likely benign | 2 | 58232046 | 58232046 | Human | 1 | name |
| 405040478 | CV3007973 | single nucleotide variant | NM_018062.4(FANCL):c.692-4C>G | Fanconi anemia [RCV003637857] | likely benign | 2 | 58163521 | 58163521 | Human | 1 | name |
| 405039599 | CV3033934 | single nucleotide variant | NM_018062.4(FANCL):c.96+14G>A | Fanconi anemia [RCV003635747] | likely benign | 2 | 58241204 | 58241204 | Human | 1 | name |
| 405039586 | CV3036758 | single nucleotide variant | NM_018062.4(FANCL):c.775+2T>C | Fanconi anemia [RCV003635738] | likely pathogenic | 2 | 58163432 | 58163432 | Human | 1 | name |
| 405039502 | CV3040142 | single nucleotide variant | NM_018062.4(FANCL):c.821+1G>A | Fanconi anemia [RCV003635604] | likely pathogenic | 2 | 58163028 | 58163028 | Human | 1 | name |
| 405039613 | CV3043123 | single nucleotide variant | NM_018062.4(FANCL):c.97-14A>G | Fanconi anemia [RCV003635774] | likely benign | 2 | 58232126 | 58232126 | Human | 1 | name |
| 405039626 | CV3046401 | single nucleotide variant | NM_018062.4(FANCL):c.97-13A>T | Fanconi anemia [RCV003635799] | likely benign | 2 | 58232125 | 58232125 | Human | 1 | name |
| 405040023 | CV3056844 | single nucleotide variant | NM_018062.4(FANCL):c.96+12G>C | Fanconi anemia [RCV003636570] | likely benign | 2 | 58241206 | 58241206 | Human | 1 | name |
| 405040156 | CV3058767 | single nucleotide variant | NM_018062.4(FANCL):c.472-6T>A | Fanconi anemia [RCV003636704] | likely benign|uncertain significance | 2 | 58198668 | 58198668 | Human | 1 | name |
| 405040313 | CV3070430 | single nucleotide variant | NM_018062.4(FANCL):c.903+1G>T | Fanconi anemia [RCV003636848] | likely pathogenic | 2 | 58162865 | 58162865 | Human | 1 | name |
| 405040382 | CV3075032 | single nucleotide variant | NM_018062.4(FANCL):c.775+6A>G | Fanconi anemia [RCV003637585] | uncertain significance | 2 | 58163428 | 58163428 | Human | 1 | name |
| 405208026 | CV3117110 | single nucleotide variant | NM_018062.4(FANCL):c.472-5A>G | Fanconi anemia [RCV003822897] | likely benign | 2 | 58198667 | 58198667 | Human | 1 | name |
| 405095620 | CV3135010 | single nucleotide variant | NM_018062.4(FANCL):c.273+7A>T | Fanconi anemia [RCV003835162] | likely benign | 2 | 58226721 | 58226721 | Human | 1 | name |
| 405146119 | CV3141772 | single nucleotide variant | NM_018062.4(FANCL):c.97-14A>C | Fanconi anemia [RCV003839694] | likely benign | 2 | 58232126 | 58232126 | Human | 1 | name |
| 405205438 | CV3165674 | single nucleotide variant | NM_018062.4(FANCL):c.96+15G>A | Fanconi anemia [RCV003861340] | likely benign | 2 | 58241203 | 58241203 | Human | 1 | name |
| 405239656 | CV3165981 | single nucleotide variant | NM_018062.4(FANCL):c.96+18G>A | Fanconi anemia [RCV003866993] | likely benign | 2 | 58241200 | 58241200 | Human | 1 | name |
| 404994068 | CV3176516 | single nucleotide variant | NM_018062.4(FANCL):c.374+7C>T | Fanconi anemia [RCV003881948] | likely benign | 2 | 58221935 | 58221935 | Human | 1 | name |
| 597742905 | CV3713562 | single nucleotide variant | NM_018062.4(FANCL):c.775+5G>T | Fanconi anemia complementation group L [RCV005038993] | uncertain significance | 2 | 58163429 | 58163429 | Human | 1 | name |
| 597649342 | CV3713574 | single nucleotide variant | NM_018062.4(FANCL):c.374+1G>A | Fanconi anemia complementation group L [RCV005026663] | likely pathogenic | 2 | 58221941 | 58221941 | Human | 1 | name |
| 597689429 | CV3713579 | single nucleotide variant | NM_018062.4(FANCL):c.156-2A>T | Fanconi anemia complementation group L [RCV005032366] | likely pathogenic | 2 | 58229876 | 58229876 | Human | 1 | name |
| 597832337 | CV3751337 | single nucleotide variant | NM_018062.4(FANCL):c.274-7T>G | Fanconi anemia [RCV005084883] | likely benign | 2 | 58222049 | 58222049 | Human | 1 | name |
| 597833942 | CV3760493 | single nucleotide variant | NM_018062.4(FANCL):c.904-2A>G | Fanconi anemia [RCV005085236] | likely pathogenic | 2 | 58161640 | 58161640 | Human | 1 | name |
| 598125278 | CV3881526 | single nucleotide variant | NM_018062.4(FANCL):c.274-2A>G | not provided [RCV005232432] | likely pathogenic | 2 | 58222044 | 58222044 | Human | | name |
| 12885118 | CV393064 | single nucleotide variant | NM_018062.4(FANCL):c.155+7T>C | Fanconi anemia [RCV001413892] | likely benign | 2 | 58232047 | 58232047 | Human | 1 | name |
| 12885771 | CV393070 | single nucleotide variant | NM_018062.4(FANCL):c.273+7A>C | Fanconi anemia [RCV000466009]|Fanconi anemia complementation group L [RCV001137462] | likely benign|uncertain significance | 2 | 58226721 | 58226721 | Human | 2 | name |
| 13494422 | CV451721 | single nucleotide variant | NM_018062.4(FANCL):c.96+10C>T | Fanconi anemia [RCV000558896] | likely benign | 2 | 58241208 | 58241208 | Human | 1 | name |
| 13813744 | CV558247 | single nucleotide variant | NM_018062.4(FANCL):c.692-2A>G | Fanconi anemia [RCV000690372] | likely pathogenic | 2 | 58163519 | 58163519 | Human | 1 | name |
| 13806124 | CV558622 | single nucleotide variant | NM_018062.4(FANCL):c.273+1G>A | Fanconi anemia [RCV000686056]|Fanconi anemia complementation group L [RCV003459665] | likely pathogenic | 2 | 58226727 | 58226727 | Human | 2 | name |
| 13815869 | CV560885 | single nucleotide variant | NM_018062.4(FANCL):c.216+1G>T | Fanconi anemia [RCV000705984] | likely pathogenic | 2 | 58229813 | 58229813 | Human | 1 | name |
| 15148836 | CV743880 | single nucleotide variant | NM_018062.4(FANCL):c.776-8A>T | Fanconi anemia [RCV000900805] | likely benign | 2 | 58163082 | 58163082 | Human | 1 | name |
| 21067057 | CV790286 | single nucleotide variant | NM_018062.4(FANCL):c.775+3A>G | Fanconi anemia [RCV001360229]|Fanconi anemia complementation group A [RCV000986763] | uncertain significance | 2 | 58163431 | 58163431 | Human | 2 | name |
| 42722782 | CV985189 | single nucleotide variant | NM_018062.4(FANCL):c.904-4G>T | Fanconi anemia [RCV003523091]|Fanconi anemia complementation group L [RCV001292702] | likely benign|uncertain significance | 2 | 58161642 | 58161642 | Human | 2 | name |
| 126763403 | CV1004185 | single nucleotide variant | NM_018062.4(FANCL):c.775+10C>G | Fanconi anemia [RCV001319230] | uncertain significance | 2 | 58163424 | 58163424 | Human | 1 | name |
| 127328602 | CV1112991 | single nucleotide variant | NM_018062.4(FANCL):c.903+10A>G | Fanconi anemia [RCV001469633]|Fanconi anemia complementation group L [RCV002495695] | likely benign | 2 | 58162856 | 58162856 | Human | 2 | name |
| 127308888 | CV1154182 | duplication | NM_018062.4(FANCL):c.822-15dup | Fanconi anemia [RCV001517666]|not specified [RCV001844297] | benign | 2 | 58162961 | 58162962 | Human | 1 | name |
| 127316038 | CV1154183 | deletion | NM_018062.4(FANCL):c.776-10del | Fanconi anemia [RCV001520266] | benign|likely benign | 2 | 58163084 | 58163084 | Human | 1 | name |
| 150425482 | CV1183215 | single nucleotide variant | NM_018062.4(FANCL):c.903+32C>G | not provided [RCV001558047] | likely benign | 2 | 58162834 | 58162834 | Human | | name |
| 150469437 | CV1207571 | single nucleotide variant | NM_018062.4(FANCL):c.97-256C>G | not provided [RCV001588260] | likely benign | 2 | 58232368 | 58232368 | Human | | name |
| 150513498 | CV1211951 | single nucleotide variant | NM_018062.4(FANCL):c.775+22C>T | not provided [RCV001598472] | benign | 2 | 58163412 | 58163412 | Human | | name |
| 150501749 | CV1224274 | single nucleotide variant | NM_018062.4(FANCL):c.775+31A>G | not provided [RCV001620915] | benign | 2 | 58163403 | 58163403 | Human | | name |
| 150492855 | CV1225552 | single nucleotide variant | NM_018062.4(FANCL):c.375-85A>G | not provided [RCV001619068] | benign | 2 | 58204311 | 58204311 | Human | | name |
| 150517002 | CV1227441 | deletion | NM_018062.4(FANCL):c.374+35del | not provided [RCV001639542] | benign | 2 | 58221907 | 58221907 | Human | | name |
| 150430248 | CV1232081 | duplication | NM_018062.4(FANCL):c.273+19dup | Fanconi anemia complementation group L [RCV002501984]|not provided [RCV001641343] | benign | 2 | 58226708 | 58226709 | Human | 1 | name |
| 150481282 | CV1239752 | single nucleotide variant | NM_018062.4(FANCL):c.775+55G>C | not provided [RCV001652915] | benign | 2 | 58163379 | 58163379 | Human | | name |
| 150446581 | CV1250686 | single nucleotide variant | NM_018062.4(FANCL):c.471+97A>G | not provided [RCV001667191] | benign | 2 | 58204033 | 58204033 | Human | | name |
| 150467791 | CV1255964 | single nucleotide variant | NM_018062.4(FANCL):c.691+70A>G | not provided [RCV001670598] | benign | 2 | 58165654 | 58165654 | Human | | name |
| 150441548 | CV1265801 | single nucleotide variant | NM_018062.4(FANCL):c.692-27A>C | not provided [RCV001690526] | benign | 2 | 58163544 | 58163544 | Human | | name |
| 151832571 | CV1396175 | single nucleotide variant | NM_018062.4(FANCL):c.471+16A>G | Fanconi anemia [RCV001901954] | likely benign|uncertain significance | 2 | 58204114 | 58204114 | Human | 1 | name |
| 152065255 | CV1525942 | single nucleotide variant | NM_018062.4(FANCL):c.822-13C>T | Fanconi anemia [RCV002128883] | likely benign | 2 | 58162960 | 58162960 | Human | 1 | name |
| 152050541 | CV1527784 | single nucleotide variant | NM_018062.4(FANCL):c.472-14T>C | Fanconi anemia [RCV002089098] | likely benign | 2 | 58198676 | 58198676 | Human | 1 | name |
| 152062225 | CV1532987 | single nucleotide variant | NM_018062.4(FANCL):c.471+12G>A | Fanconi anemia [RCV002090390]|Fanconi anemia complementation group L [RCV002486805] | likely benign | 2 | 58204118 | 58204118 | Human | 2 | name |
| 152105313 | CV1536702 | single nucleotide variant | NM_018062.4(FANCL):c.156-15T>C | Fanconi anemia [RCV002173634] | likely benign | 2 | 58229889 | 58229889 | Human | 1 | name |
| 152026611 | CV1540054 | single nucleotide variant | NM_018062.4(FANCL):c.692-17A>G | Fanconi anemia [RCV002104613] | likely benign | 2 | 58163534 | 58163534 | Human | 1 | name |
| 152088714 | CV1541410 | single nucleotide variant | NM_018062.4(FANCL):c.472-15A>G | Fanconi anemia [RCV002171543]|Fanconi anemia complementation group L [RCV002486982] | likely benign | 2 | 58198677 | 58198677 | Human | 2 | name |
| 152032236 | CV1546232 | deletion | NM_018062.4(FANCL):c.216+13del | Fanconi anemia [RCV002124708] | benign | 2 | 58229801 | 58229801 | Human | 1 | name |
| 152066033 | CV1556900 | single nucleotide variant | NM_018062.4(FANCL):c.472-15A>T | Fanconi anemia [RCV002191182] | likely benign | 2 | 58198677 | 58198677 | Human | 1 | name |
| 152079549 | CV1557909 | single nucleotide variant | NM_018062.4(FANCL):c.541-14C>A | Fanconi anemia [RCV002170358] | likely benign | 2 | 58165888 | 58165888 | Human | 1 | name |
| 152130155 | CV1584433 | single nucleotide variant | NM_018062.4(FANCL):c.822-15T>C | Fanconi anemia [RCV002082755]|not provided [RCV004711741] | likely benign | 2 | 58162962 | 58162962 | Human | 1 | name |
| 152037825 | CV1596510 | single nucleotide variant | NM_018062.4(FANCL):c.155+18T>A | Fanconi anemia [RCV002125634] | likely benign | 2 | 58232036 | 58232036 | Human | 1 | name |
| 152160832 | CV1601806 | single nucleotide variant | NM_018062.4(FANCL):c.541-11T>A | Fanconi anemia [RCV002180904] | likely benign | 2 | 58165885 | 58165885 | Human | 1 | name |
| 152082190 | CV1607962 | single nucleotide variant | NM_018062.4(FANCL):c.471+11C>T | Fanconi anemia [RCV002193166] | likely benign | 2 | 58204119 | 58204119 | Human | 1 | name |
| 152082594 | CV1608077 | single nucleotide variant | NM_018062.4(FANCL):c.375-13C>T | Fanconi anemia [RCV002193217] | benign | 2 | 58204239 | 58204239 | Human | 1 | name |
| 152094316 | CV1609315 | single nucleotide variant | NM_018062.4(FANCL):c.541-15T>C | Fanconi anemia [RCV002172245] | likely benign | 2 | 58165889 | 58165889 | Human | 1 | name |
| 152097569 | CV1611560 | single nucleotide variant | NM_018062.4(FANCL):c.374+13T>C | Fanconi anemia [RCV002172669]|Fanconi anemia complementation group L [RCV005232798]|not provided [RCV005256842] | benign|likely benign | 2 | 58221929 | 58221929 | Human | 2 | name |
| 152096280 | CV1627881 | single nucleotide variant | NM_018062.4(FANCL):c.540+13C>T | Fanconi anemia [RCV002194961] | likely benign | 2 | 58198581 | 58198581 | Human | 1 | name |
| 152157635 | CV1630597 | single nucleotide variant | NM_018062.4(FANCL):c.375-15T>C | Fanconi anemia [RCV002122646]|Fanconi anemia complementation group L [RCV002500012] | benign|likely benign | 2 | 58204241 | 58204241 | Human | 2 | name |
| 152110417 | CV1638194 | single nucleotide variant | NM_018062.4(FANCL):c.692-15C>G | Fanconi anemia [RCV002196694] | likely benign | 2 | 58163532 | 58163532 | Human | 1 | name |
| 152073129 | CV1650636 | single nucleotide variant | NM_018062.4(FANCL):c.775+13A>C | Fanconi anemia [RCV002169552] | likely benign | 2 | 58163421 | 58163421 | Human | 1 | name |
| 152172883 | CV1652765 | single nucleotide variant | NM_018062.4(FANCL):c.375-14C>G | Fanconi anemia [RCV002143925] | likely benign | 2 | 58204240 | 58204240 | Human | 1 | name |
| 152068840 | CV1662429 | single nucleotide variant | NM_018062.4(FANCL):c.1092+8A>G | Fanconi anemia [RCV002111171] | likely benign | 2 | 58160100 | 58160100 | Human | 1 | name |
| 155974574 | CV1885895 | single nucleotide variant | NM_018062.4(FANCL):c.775+11T>G | Fanconi anemia [RCV003075347] | likely benign | 2 | 58163423 | 58163423 | Human | 1 | name |
| 156180737 | CV1888394 | single nucleotide variant | NM_018062.4(FANCL):c.541-18C>G | Fanconi anemia [RCV003083549] | likely benign | 2 | 58165892 | 58165892 | Human | 1 | name |
| 156223517 | CV1934397 | single nucleotide variant | NM_018062.4(FANCL):c.156-14C>T | Fanconi anemia [RCV002644506] | likely benign | 2 | 58229888 | 58229888 | Human | 1 | name |
| 155901161 | CV2010158 | single nucleotide variant | NM_018062.4(FANCL):c.274-19G>A | Fanconi anemia [RCV002726187] | likely benign | 2 | 58222061 | 58222061 | Human | 1 | name |
| 155910033 | CV2017591 | single nucleotide variant | NM_018062.4(FANCL):c.540+18A>G | Fanconi anemia [RCV002681645] | likely benign | 2 | 58198576 | 58198576 | Human | 1 | name |
| 156372156 | CV2028165 | single nucleotide variant | NM_018062.4(FANCL):c.1021-7T>C | Fanconi anemia [RCV002721607] | likely benign | 2 | 58160186 | 58160186 | Human | 1 | name |
| 156091069 | CV2080275 | single nucleotide variant | NM_018062.4(FANCL):c.903+12C>T | Fanconi anemia [RCV002847718] | likely benign | 2 | 58162854 | 58162854 | Human | 1 | name |
| 156141287 | CV2090664 | single nucleotide variant | NM_018062.4(FANCL):c.904-20T>A | Fanconi anemia [RCV002890315] | likely benign | 2 | 58161658 | 58161658 | Human | 1 | name |
| 155981293 | CV2098009 | single nucleotide variant | NM_018062.4(FANCL):c.375-17T>G | Fanconi anemia [RCV002907718] | likely benign | 2 | 58204243 | 58204243 | Human | 1 | name |
| 156361156 | CV2119480 | single nucleotide variant | NM_018062.4(FANCL):c.903+17T>A | Fanconi anemia [RCV002966990] | likely benign | 2 | 58162849 | 58162849 | Human | 1 | name |
| 156083708 | CV2138368 | single nucleotide variant | NM_018062.4(FANCL):c.472-11T>C | Fanconi anemia [RCV002979349] | likely benign|uncertain significance | 2 | 58198673 | 58198673 | Human | 1 | name |
| 156198554 | CV2169571 | single nucleotide variant | NM_018062.4(FANCL):c.541-10T>G | Fanconi anemia [RCV003041889] | likely benign | 2 | 58165884 | 58165884 | Human | 1 | name |
| 11548229 | CV250751 | single nucleotide variant | NM_018062.4(FANCL):c.375-49C>G | Fanconi anemia complementation group L [RCV003316380]|not provided [RCV001594900]|not specified [RCV000248809] | benign | 2 | 58204275 | 58204275 | Human | 1 | name |
| 11545527 | CV250752 | single nucleotide variant | NM_018062.4(FANCL):c.217-11T>C | Fanconi anemia complementation group L [RCV000308555]|not provided [RCV001651152]|not specified [RCV000245258] | benign|likely benign | 2 | 58226795 | 58226795 | Human | 1 | name |
| 11551759 | CV250753 | single nucleotide variant | NM_001114636.1(FANCL):c.-39A>G | Fanconi anemia complementation group L [RCV000401037]|not provided [RCV001582816]|not specified [RCV000253455] | benign|likely benign|uncertain significance | 2 | 58241352 | 58241352 | Human | 1 | name |
| 401941236 | CV2835782 | single nucleotide variant | NM_018062.4(FANCL):c.1092+1G>C | Fanconi anemia complementation group L [RCV003461552] | likely pathogenic | 2 | 58160107 | 58160107 | Human | 1 | name |
| 402490059 | CV2864773 | single nucleotide variant | NM_018062.4(FANCL):c.375-11C>T | Fanconi anemia [RCV003523363] | likely benign | 2 | 58204237 | 58204237 | Human | 1 | name |
| 11588410 | CV286883 | single nucleotide variant | NM_001114636.1(FANCL):c.-39A>C | FANCL-related disorder [RCV003932338]|Fanconi anemia complementation group L [RCV000302641]|not provided [RCV004694578] | likely benign|uncertain significance | 2 | 58241352 | 58241352 | Human | 1 | name , trait , alternate_id |
| 402490429 | CV2875655 | single nucleotide variant | NM_018062.4(FANCL):c.216+14A>G | Fanconi anemia [RCV003524341] | likely benign | 2 | 58229800 | 58229800 | Human | 1 | name |
| 11594473 | CV287624 | single nucleotide variant | NM_001114636.1(FANCL):c.-40C>A | Fanconi anemia complementation group L [RCV000359574] | uncertain significance | 2 | 58241353 | 58241353 | Human | 1 | name |
| 11583519 | CV287626 | single nucleotide variant | NM_001114636.1(FANCL):c.-44C>T | FANCL-related disorder [RCV003950164]|Fanconi anemia complementation group L [RCV000267177] | likely benign|uncertain significance | 2 | 58241357 | 58241357 | Human | 1 | name , trait , alternate_id |
| 402490370 | CV2877424 | single nucleotide variant | NM_018062.4(FANCL):c.156-11T>A | Fanconi anemia [RCV003524121] | likely benign | 2 | 58229885 | 58229885 | Human | 1 | name |
| 402489550 | CV2881530 | single nucleotide variant | NM_018062.4(FANCL):c.471+13T>C | Fanconi anemia [RCV003522479] | likely benign | 2 | 58204117 | 58204117 | Human | 1 | name |
| 402490643 | CV2883100 | single nucleotide variant | NM_018062.4(FANCL):c.156-12T>C | Fanconi anemia [RCV003524998] | likely benign | 2 | 58229886 | 58229886 | Human | 1 | name |
| 402490758 | CV2893994 | single nucleotide variant | NM_018062.4(FANCL):c.903+14G>T | Fanconi anemia [RCV003525184] | likely benign | 2 | 58162852 | 58162852 | Human | 1 | name |
| 402490164 | CV2900368 | single nucleotide variant | NM_018062.4(FANCL):c.904-19A>G | Fanconi anemia [RCV003523572] | likely benign | 2 | 58161657 | 58161657 | Human | 1 | name |
| 11634958 | CV290414 | duplication | NM_018062.4(FANCL):c.776-10dup | Fanconi anemia [RCV000295593]|not provided [RCV001636943]|not specified [RCV000508309] | benign|conflicting interpretations of pathogenicity|uncertain significance | 2 | 58163083 | 58163084 | Human | 1 | name |
| 11593239 | CV290416 | single nucleotide variant | NM_001114636.1(FANCL):c.-13C>T | Fanconi anemia complementation group L [RCV000347013] | uncertain significance | 2 | 58241326 | 58241326 | Human | 1 | name |
| 402490445 | CV2919362 | single nucleotide variant | NM_018062.4(FANCL):c.374+13T>G | Fanconi anemia [RCV003524432] | likely benign | 2 | 58221929 | 58221929 | Human | 1 | name |
| 405039814 | CV2938419 | single nucleotide variant | NM_018062.4(FANCL):c.375-14C>T | Fanconi anemia [RCV003636158] | likely benign | 2 | 58204240 | 58204240 | Human | 1 | name |
| 405041048 | CV2969504 | single nucleotide variant | NM_018062.4(FANCL):c.156-11T>C | Fanconi anemia [RCV003637102] | likely benign | 2 | 58229885 | 58229885 | Human | 1 | name |
| 405040957 | CV2987141 | single nucleotide variant | NM_018062.4(FANCL):c.1021-2A>G | Fanconi anemia [RCV003637348]|Fanconi anemia complementation group L [RCV004574283] | likely pathogenic | 2 | 58160181 | 58160181 | Human | 2 | name |
| 405040972 | CV2988760 | single nucleotide variant | NM_018062.4(FANCL):c.374+20T>A | Fanconi anemia [RCV003637248] | likely benign | 2 | 58221922 | 58221922 | Human | 1 | name |
| 405040442 | CV2999509 | single nucleotide variant | NM_018062.4(FANCL):c.375-20T>A | Fanconi anemia [RCV003637734] | likely benign | 2 | 58204246 | 58204246 | Human | 1 | name |
| 405040539 | CV3009415 | single nucleotide variant | NM_018062.4(FANCL):c.274-14C>G | Fanconi anemia [RCV003637970] | likely benign | 2 | 58222056 | 58222056 | Human | 1 | name |
| 405040612 | CV3017578 | single nucleotide variant | NM_018062.4(FANCL):c.692-11T>C | Fanconi anemia [RCV003638105] | likely benign | 2 | 58163528 | 58163528 | Human | 1 | name |
| 405039414 | CV3017995 | single nucleotide variant | NM_018062.4(FANCL):c.903+14G>A | Fanconi anemia [RCV003635417]|Fanconi anemia complementation group L [RCV005030195] | likely benign|uncertain significance | 2 | 58162852 | 58162852 | Human | 2 | name |
| 405039487 | CV3024313 | single nucleotide variant | NM_018062.4(FANCL):c.540+16G>T | Fanconi anemia [RCV003635580]|Fanconi anemia complementation group L [RCV005030201] | likely pathogenic|likely benign | 2 | 58198578 | 58198578 | Human | 2 | name |
| 405039474 | CV3027392 | single nucleotide variant | NM_018062.4(FANCL):c.541-14C>T | Fanconi anemia [RCV003635561] | likely benign | 2 | 58165888 | 58165888 | Human | 1 | name |
| 405039547 | CV3035224 | single nucleotide variant | NM_018062.4(FANCL):c.156-16C>T | Fanconi anemia [RCV003635654] | likely benign | 2 | 58229890 | 58229890 | Human | 1 | name |
| 405039561 | CV3035329 | single nucleotide variant | NM_018062.4(FANCL):c.822-13C>G | Fanconi anemia [RCV003635660] | likely benign | 2 | 58162960 | 58162960 | Human | 1 | name |
| 405039971 | CV3045336 | single nucleotide variant | NM_018062.4(FANCL):c.375-19A>C | Fanconi anemia [RCV003636477] | likely benign | 2 | 58204245 | 58204245 | Human | 1 | name |
| 405039946 | CV3051607 | single nucleotide variant | NM_018062.4(FANCL):c.775+10C>T | Fanconi anemia [RCV003636430] | likely benign | 2 | 58163424 | 58163424 | Human | 1 | name |
| 405039684 | CV3054523 | single nucleotide variant | NM_018062.4(FANCL):c.216+17A>G | Fanconi anemia [RCV003635900] | likely benign | 2 | 58229797 | 58229797 | Human | 1 | name |
| 405040008 | CV3060197 | single nucleotide variant | NM_018062.4(FANCL):c.692-15C>A | Fanconi anemia [RCV003636569] | likely benign | 2 | 58163532 | 58163532 | Human | 1 | name |
| 405040239 | CV3062801 | single nucleotide variant | NM_018062.4(FANCL):c.375-16C>T | Fanconi anemia [RCV003636792] | likely benign | 2 | 58204242 | 58204242 | Human | 1 | name |
| 405040171 | CV3069248 | single nucleotide variant | NM_018062.4(FANCL):c.156-13A>T | Fanconi anemia [RCV003636718] | likely benign | 2 | 58229887 | 58229887 | Human | 1 | name |
| 405040214 | CV3069591 | single nucleotide variant | NM_018062.4(FANCL):c.541-15T>G | Fanconi anemia [RCV003636752] | likely benign | 2 | 58165889 | 58165889 | Human | 1 | name |
| 405040862 | CV3071319 | single nucleotide variant | NM_018062.4(FANCL):c.472-18G>A | Fanconi anemia [RCV003637444] | likely benign | 2 | 58198680 | 58198680 | Human | 1 | name |
| 405040366 | CV3072139 | single nucleotide variant | NM_018062.4(FANCL):c.822-12C>T | Fanconi anemia [RCV003637561] | likely benign | 2 | 58162959 | 58162959 | Human | 1 | name |
| 405040394 | CV3072351 | single nucleotide variant | NM_018062.4(FANCL):c.155+19A>T | Fanconi anemia [RCV003637590] | likely benign | 2 | 58232035 | 58232035 | Human | 1 | name |
| 405040918 | CV3073573 | duplication | NM_018062.4(FANCL):c.1020+8dup | Fanconi anemia [RCV003637385] | benign | 2 | 58161513 | 58161514 | Human | 1 | name |
| 405244924 | CV3161544 | single nucleotide variant | NM_018062.4(FANCL):c.692-18A>C | Fanconi anemia [RCV003868256] | likely benign | 2 | 58163535 | 58163535 | Human | 1 | name |
| 402467069 | CV3177744 | single nucleotide variant | NM_018062.4(FANCL):c.904-14T>C | Fanconi anemia [RCV003873182] | likely benign | 2 | 58161652 | 58161652 | Human | 1 | name |
| 404979991 | CV3183180 | single nucleotide variant | NM_018062.4(FANCL):c.156-13A>C | Fanconi anemia [RCV003880203] | likely benign | 2 | 58229887 | 58229887 | Human | 1 | name |
| 405870035 | CV3400594 | single nucleotide variant | NM_018062.4(FANCL):c.1092+1G>T | Fanconi anemia complementation group L [RCV004576597] | likely pathogenic | 2 | 58160107 | 58160107 | Human | 1 | name |
| 597649206 | CV3713553 | single nucleotide variant | NM_018062.4(FANCL):c.1021-2A>T | Fanconi anemia complementation group L [RCV005026647] | likely pathogenic | 2 | 58160181 | 58160181 | Human | 1 | name |
| 597890004 | CV3762816 | single nucleotide variant | NM_018062.4(FANCL):c.274-14C>T | Fanconi anemia [RCV005110589] | likely benign | 2 | 58222056 | 58222056 | Human | 1 | name |
| 597872666 | CV3769753 | single nucleotide variant | NM_018062.4(FANCL):c.374+19A>G | Fanconi anemia [RCV005108011] | likely benign | 2 | 58221923 | 58221923 | Human | 1 | name |
| 597938912 | CV3775202 | single nucleotide variant | NM_018062.4(FANCL):c.903+19T>C | Fanconi anemia [RCV005118028] | likely benign | 2 | 58162847 | 58162847 | Human | 1 | name |
| 597955821 | CV3796325 | single nucleotide variant | NM_018062.4(FANCL):c.822-19T>G | Fanconi anemia [RCV005137142] | likely benign | 2 | 58162966 | 58162966 | Human | 1 | name |
| 597864111 | CV3823103 | single nucleotide variant | NM_018062.4(FANCL):c.374+17A>G | Fanconi anemia [RCV005175453] | uncertain significance | 2 | 58221925 | 58221925 | Human | 1 | name |
| 597864451 | CV3861059 | single nucleotide variant | NM_018062.4(FANCL):c.155+11G>C | Fanconi anemia [RCV005196407] | likely benign | 2 | 58232043 | 58232043 | Human | 1 | name |
| 12887365 | CV393226 | single nucleotide variant | NM_018062.4(FANCL):c.1021-6T>C | Fanconi anemia [RCV000468930]|Fanconi anemia complementation group A [RCV000986761]|Fanconi anemia complementation group L [RCV002496824]|not specified [RCV001821348] | likely benign | 2 | 58160185 | 58160185 | Human | 3 | name |
| 28892193 | CV885249 | single nucleotide variant | NM_001114636.1(FANCL):c.-26T>A | Fanconi anemia complementation group L [RCV001139682] | uncertain significance | 2 | 58241339 | 58241339 | Human | 1 | name |
| 28892196 | CV885250 | single nucleotide variant | NM_001114636.1(FANCL):c.-34T>C | Fanconi anemia complementation group L [RCV001139683] | uncertain significance | 2 | 58241347 | 58241347 | Human | 1 | name |
| 28892200 | CV885251 | single nucleotide variant | NM_001114636.1(FANCL):c.-35C>T | Fanconi anemia complementation group L [RCV001139684] | uncertain significance | 2 | 58241348 | 58241348 | Human | 1 | name |
| 150424590 | CV1183216 | single nucleotide variant | NM_018062.4(FANCL):c.471+135A>G | not provided [RCV001556864] | likely benign | 2 | 58203995 | 58203995 | Human | | name |
| 150426896 | CV1186468 | single nucleotide variant | NM_018062.4(FANCL):c.274-258A>G | not provided [RCV001560190] | likely benign | 2 | 58222300 | 58222300 | Human | | name |
| 150408818 | CV1189922 | single nucleotide variant | NM_018062.4(FANCL):c.156-218A>C | not provided [RCV001565454] | likely benign | 2 | 58230092 | 58230092 | Human | | name |
| 150447920 | CV1201956 | single nucleotide variant | NM_018062.4(FANCL):c.217-141G>A | not provided [RCV001584825] | likely benign | 2 | 58226925 | 58226925 | Human | | name |
| 150476542 | CV1203053 | single nucleotide variant | NM_018062.4(FANCL):c.904-234A>T | not provided [RCV001589647] | likely benign | 2 | 58161872 | 58161872 | Human | | name |
| 150481285 | CV1209763 | duplication | NM_018062.4(FANCL):c.274-285dup | not provided [RCV001590460] | likely benign | 2 | 58222326 | 58222327 | Human | | name |
| 150510454 | CV1211695 | single nucleotide variant | NM_018062.4(FANCL):c.904-291A>G | not provided [RCV001597590] | benign | 2 | 58161929 | 58161929 | Human | | name |
| 150509626 | CV1229943 | single nucleotide variant | NM_018062.4(FANCL):c.471+136A>G | not provided [RCV001636523] | benign | 2 | 58203994 | 58203994 | Human | | name |
| 150477393 | CV1240023 | single nucleotide variant | NM_018062.4(FANCL):c.216+194T>C | not provided [RCV001652201] | benign | 2 | 58229620 | 58229620 | Human | | name |
| 150506293 | CV1242179 | single nucleotide variant | NM_018062.4(FANCL):c.273+278A>G | not provided [RCV001658532] | benign | 2 | 58226450 | 58226450 | Human | | name |
| 150484466 | CV1250029 | single nucleotide variant | NM_018062.4(FANCL):c.274-122G>A | not provided [RCV001673642] | benign | 2 | 58222164 | 58222164 | Human | | name |
| 150447752 | CV1253449 | single nucleotide variant | NM_018062.4(FANCL):c.1092+58T>C | not provided [RCV001667377] | benign | 2 | 58160050 | 58160050 | Human | | name |
| 150469144 | CV1259608 | single nucleotide variant | NM_018062.4(FANCL):c.273+243G>C | not provided [RCV001683909] | benign | 2 | 58226485 | 58226485 | Human | | name |
| 150487956 | CV1262816 | single nucleotide variant | NM_018062.4(FANCL):c.1093-65G>A | not provided [RCV001687214] | benign | 2 | 58159865 | 58159865 | Human | | name |
| 150496116 | CV1272802 | single nucleotide variant | NM_018062.4(FANCL):c.273+268C>T | not provided [RCV001688725] | benign | 2 | 58226460 | 58226460 | Human | | name |
| 150482808 | CV1280066 | single nucleotide variant | NM_018062.4(FANCL):c.903+189G>T | not provided [RCV001715082] | benign | 2 | 58162677 | 58162677 | Human | | name |
| 150441743 | CV1287616 | duplication | NM_018062.4(FANCL):c.274-275dup | not provided [RCV001725336] | benign | 2 | 58222316 | 58222317 | Human | | name |
| 152064053 | CV1535725 | single nucleotide variant | NM_018062.4(FANCL):c.1020+15T>C | Fanconi anemia [RCV002168379] | likely benign | 2 | 58161507 | 58161507 | Human | 1 | name |
| 152167959 | CV1577584 | single nucleotide variant | NM_018062.4(FANCL):c.1092+18C>A | Fanconi anemia [RCV002204845] | likely benign | 2 | 58160090 | 58160090 | Human | 1 | name |
| 152128939 | CV1639004 | single nucleotide variant | NM_018062.4(FANCL):c.1093-15G>T | Fanconi anemia [RCV002155261] | likely benign | 2 | 58159815 | 58159815 | Human | 1 | name |
| 156004538 | CV1869727 | single nucleotide variant | NM_018062.4(FANCL):c.1093-13T>A | Fanconi anemia [RCV003076753] | uncertain significance | 2 | 58159813 | 58159813 | Human | 1 | name |
| 156448462 | CV1950743 | single nucleotide variant | NM_018062.4(FANCL):c.1020+18T>C | Fanconi anemia [RCV003120024] | likely benign | 2 | 58161504 | 58161504 | Human | 1 | name |
| 156141950 | CV2090696 | single nucleotide variant | NM_018062.4(FANCL):c.1020+17T>C | Fanconi anemia [RCV002890340] | likely benign | 2 | 58161505 | 58161505 | Human | 1 | name |
| 156136085 | CV2105735 | single nucleotide variant | NM_018062.4(FANCL):c.1093-15G>A | Fanconi anemia [RCV002914730] | likely benign | 2 | 58159815 | 58159815 | Human | 1 | name |
| 156016858 | CV2114509 | single nucleotide variant | NM_018062.4(FANCL):c.1020+14A>G | Fanconi anemia [RCV002909412] | likely benign | 2 | 58161508 | 58161508 | Human | 1 | name |
| 155949641 | CV2123402 | single nucleotide variant | NM_018062.4(FANCL):c.1093-11T>A | Fanconi anemia [RCV002971788]|Fanconi anemia complementation group L [RCV005028079] | likely benign|uncertain significance | 2 | 58159811 | 58159811 | Human | 2 | name |
| 402490257 | CV2858824 | single nucleotide variant | NM_018062.4(FANCL):c.1093-17A>T | Fanconi anemia [RCV003523928] | likely benign | 2 | 58159817 | 58159817 | Human | 1 | name |
| 402490316 | CV2866493 | deletion | NM_018062.4(FANCL):c.1020+14del | Fanconi anemia [RCV003524057] | benign | 2 | 58161508 | 58161508 | Human | 1 | name |
| 402489473 | CV2880472 | single nucleotide variant | NM_018062.4(FANCL):c.1092+15A>G | Fanconi anemia [RCV003522259] | likely benign | 2 | 58160093 | 58160093 | Human | 1 | name |
| 402489485 | CV2880490 | single nucleotide variant | NM_018062.4(FANCL):c.1092+14T>G | Fanconi anemia [RCV003522261] | likely benign | 2 | 58160094 | 58160094 | Human | 1 | name |
| 402489529 | CV2891078 | single nucleotide variant | NM_018062.4(FANCL):c.1093-13T>C | Fanconi anemia [RCV003522351] | likely benign | 2 | 58159813 | 58159813 | Human | 1 | name |
| 402490621 | CV2892996 | single nucleotide variant | NM_018062.4(FANCL):c.1021-18A>C | Fanconi anemia [RCV003524927] | likely benign | 2 | 58160197 | 58160197 | Human | 1 | name |
| 405039826 | CV2946008 | single nucleotide variant | NM_018062.4(FANCL):c.1093-12C>G | Fanconi anemia [RCV003636202] | likely benign | 2 | 58159812 | 58159812 | Human | 1 | name |
| 405041072 | CV2964748 | single nucleotide variant | NM_018062.4(FANCL):c.1093-18T>G | Fanconi anemia [RCV003637010] | likely benign | 2 | 58159818 | 58159818 | Human | 1 | name |
| 405040930 | CV2990468 | single nucleotide variant | NM_018062.4(FANCL):c.1092+17T>C | Fanconi anemia [RCV003637371] | likely benign | 2 | 58160091 | 58160091 | Human | 1 | name |
| 405040468 | CV2994125 | single nucleotide variant | NM_018062.4(FANCL):c.1093-10C>A | Fanconi anemia [RCV003637841] | likely benign | 2 | 58159810 | 58159810 | Human | 1 | name |
| 405039516 | CV3037856 | single nucleotide variant | NM_018062.4(FANCL):c.1021-16C>G | Fanconi anemia [RCV003635614] | likely benign | 2 | 58160195 | 58160195 | Human | 1 | name |
| 405040251 | CV3078238 | single nucleotide variant | NM_018062.4(FANCL):c.1020+20T>G | Fanconi anemia [RCV003636806] | likely benign | 2 | 58161502 | 58161502 | Human | 1 | name |
| 405040266 | CV3078408 | single nucleotide variant | NM_018062.4(FANCL):c.1092+18C>G | Fanconi anemia [RCV003636810] | likely benign | 2 | 58160090 | 58160090 | Human | 1 | name |
| 597967958 | CV3752144 | single nucleotide variant | NM_018062.4(FANCL):c.1092+16A>G | Fanconi anemia [RCV005083338] | likely benign | 2 | 58160092 | 58160092 | Human | 1 | name |
| 597946575 | CV3817729 | single nucleotide variant | NM_018062.4(FANCL):c.1021-16C>T | Fanconi anemia [RCV005160195] | likely benign | 2 | 58160195 | 58160195 | Human | 1 | name |
| 597850119 | CV3824543 | single nucleotide variant | NM_018062.4(FANCL):c.1021-11A>C | Fanconi anemia [RCV005173582] | likely benign | 2 | 58160190 | 58160190 | Human | 1 | name |
| 150425491 | CV1183214 | single nucleotide variant | NM_018062.4(FANCL):c.1020+338C>T | not provided [RCV001558060] | likely benign | 2 | 58161184 | 58161184 | Human | | name |
| 150487463 | CV1262744 | duplication | NM_018062.4(FANCL):c.375-2279dup | not provided [RCV001687142] | benign | 2 | 58206504 | 58206505 | Human | | name |
| 150474847 | CV1278943 | single nucleotide variant | NM_018062.4(FANCL):c.375-2272C>A | not provided [RCV001713756] | benign | 2 | 58206498 | 58206498 | Human | | name |
| 155641717 | CV1709916 | single nucleotide variant | NM_018062.4(FANCL):c.540+4347G>A | not provided [RCV002293016] | likely benign | 2 | 58194247 | 58194247 | Human | | name |
| 402490742 | CV2893948 | single nucleotide variant | NM_018062.4(FANCL):c.375-2033C>T | Fanconi anemia [RCV003525182] | likely benign | 2 | 58206259 | 58206259 | Human | 1 | name |
| 617152262 | CV4020658 | single nucleotide variant | NM_018062.4(FANCL):c.540+9614G>T | not provided [RCV005427915] | benign | 2 | 58188980 | 58188980 | Human | | name |
| 617149621 | CV4021344 | single nucleotide variant | NM_018062.4(FANCL):c.540+9895A>G | not provided [RCV005425313] | likely benign | 2 | 58188699 | 58188699 | Human | | name |
| 617149342 | CV4021455 | single nucleotide variant | NM_018062.4(FANCL):c.374+8284G>C | not provided [RCV005425424] | likely benign | 2 | 58213658 | 58213658 | Human | | name |
| 617151066 | CV4021890 | single nucleotide variant | NM_018062.4(FANCL):c.540+9600T>G | not provided [RCV005426851] | likely benign | 2 | 58188994 | 58188994 | Human | | name |
| 13436758 | CV433551 | single nucleotide variant | NM_018062.4(FANCL):c.375-2014T>C | not provided [RCV001712569]|not specified [RCV000507709] | benign | 2 | 58206240 | 58206240 | Human | | name |
| 34889442 | CV918141 | single nucleotide variant | NM_018062.4(FANCL):c.375-2033C>G | Fanconi anemia [RCV001863081]|Fanconi anemia complementation group L [RCV001195064] | pathogenic|likely pathogenic|uncertain significance | 2 | 58206259 | 58206259 | Human | 2 | name |
| 329847042 | CV2524124 | duplication | NM_018062.4(FANCL):c.*102_*105dup | not specified [RCV003226830] | uncertain significance | 2 | 58159659 | 58159660 | Human | | name |
| 11590842 | CV286872 | deletion | NM_018062.4(FANCL):c.*447_*450del | Fanconi anemia [RCV000322806] | uncertain significance | 2 | 58159315 | 58159318 | Human | 1 | name |
| 127275309 | CV1091498 | single nucleotide variant | NM_018062.4(FANCL):c.6G>A (p.Ala2=) | Fanconi anemia [RCV001432279] | likely benign | 2 | 58241308 | 58241308 | Human | 1 | name |
| 152130232 | CV1519603 | inversion | NM_018062.4(FANCL):c.96+14_96+15inv | Fanconi anemia [RCV002155430] | likely benign | 2 | 58241203 | 58241204 | Human | | name |
| 155945567 | CV2072595 | deletion | NM_018062.4(FANCL):c.903+1_903+2del | Fanconi anemia [RCV002862042]|Fanconi anemia complementation group L [RCV005027986] | likely pathogenic | 2 | 58162864 | 58162865 | Human | 2 | name |
| 156280837 | CV2133796 | deletion | NM_018062.4(FANCL):c.97-15_97-11del | Fanconi anemia [RCV003009594] | likely benign | 2 | 58232123 | 58232127 | Human | 1 | name |
| 401941248 | CV2835799 | microsatellite | NM_018062.4(FANCL):c.691+2_691+5del | Fanconi anemia complementation group L [RCV003461564] | likely pathogenic | 2 | 58165719 | 58165722 | Human | | name |
| 13816922 | CV561856 | deletion | NM_018062.4(FANCL):c.904-9_904-7del | Fanconi anemia [RCV000692656] | uncertain significance | 2 | 58161645 | 58161647 | Human | 1 | name |
| 127311088 | CV1112993 | microsatellite | NM_018062.4(FANCL):c.274-11_274-9del | Fanconi anemia [RCV001456767] | likely benign | 2 | 58222051 | 58222053 | Human | | name |
| 152140618 | CV1660891 | single nucleotide variant | NM_018062.4(FANCL):c.18G>C (p.Ala6=) | Fanconi anemia [RCV002120317] | likely benign | 2 | 58241296 | 58241296 | Human | 1 | name |
| 156376603 | CV2000348 | single nucleotide variant | NM_018062.4(FANCL):c.24G>A (p.Leu8=) | Fanconi anemia [RCV002653344] | likely benign | 2 | 58241290 | 58241290 | Human | 1 | name |
| 401937575 | CV2815817 | single nucleotide variant | NM_018062.4(FANCL):c.22C>T (p.Leu8=) | Fanconi anemia [RCV005100052]|not provided [RCV003415586] | likely benign | 2 | 58241292 | 58241292 | Human | 1 | name |
| 405053854 | CV2884834 | single nucleotide variant | NM_018062.4(FANCL):c.12G>C (p.Thr4=) | Fanconi anemia [RCV003522405] | likely benign | 2 | 58241302 | 58241302 | Human | 1 | name |
| 405140913 | CV3053528 | single nucleotide variant | NM_018062.4(FANCL):c.24G>T (p.Leu8=) | Fanconi anemia [RCV003635826] | likely benign | 2 | 58241290 | 58241290 | Human | 1 | name |
| 405183129 | CV3124035 | single nucleotide variant | NM_018062.4(FANCL):c.27G>A (p.Leu9=) | Fanconi anemia [RCV003820231] | likely benign | 2 | 58241287 | 58241287 | Human | 1 | name |
| 597921282 | CV3839424 | single nucleotide variant | NM_018062.4(FANCL):c.24G>C (p.Leu8=) | Fanconi anemia [RCV005184356] | likely benign | 2 | 58241290 | 58241290 | Human | 1 | name |
| 127231252 | CV1069764 | microsatellite | NM_018062.4(FANCL):c.540+10_540+24del | Fanconi anemia [RCV001412975] | likely benign | 2 | 58198570 | 58198584 | Human | | name |
| 150441660 | CV1246771 | deletion | NM_018062.4(FANCL):c.691+59_691+61del | not provided [RCV001666425] | benign | 2 | 58165663 | 58165665 | Human | | name |
| 151352950 | CV1326364 | single nucleotide variant | NM_018062.4(FANCL):c.1A>T (p.Met1Leu) | Fanconi anemia [RCV003635974]|not provided [RCV001815885] | pathogenic|likely pathogenic | 2 | 58241313 | 58241313 | Human | 1 | name |
| 151763092 | CV1447462 | deletion | NM_018062.4(FANCL):c.374+18_374+29del | Fanconi anemia [RCV001895562]|not specified [RCV002300615] | likely benign|uncertain significance | 2 | 58221913 | 58221924 | Human | 1 | name |
| 151731436 | CV1489801 | deletion | NM_018062.4(FANCL):c.776-13_776-10del | Fanconi anemia [RCV001910910] | uncertain significance | 2 | 58163084 | 58163087 | Human | 1 | name |
| 152110590 | CV1537015 | single nucleotide variant | NM_018062.4(FANCL):c.36C>T (p.Cys12=) | Fanconi anemia [RCV002215430]|not provided [RCV003456515] | likely benign | 2 | 58241278 | 58241278 | Human | 1 | name |
| 152114348 | CV1573645 | duplication | NM_018062.4(FANCL):c.776-11_776-10dup | Fanconi anemia [RCV002215925] | benign | 2 | 58163083 | 58163084 | Human | 1 | name |
| 152133279 | CV1585219 | single nucleotide variant | NM_018062.4(FANCL):c.39C>T (p.Pro13=) | Fanconi anemia [RCV002083160] | likely benign | 2 | 58241275 | 58241275 | Human | 1 | name |
| 152044970 | CV1588689 | microsatellite | NM_018062.4(FANCL):c.374+19_374+20del | Fanconi anemia [RCV002188728] | likely benign | 2 | 58221922 | 58221923 | Human | | name |
| 152126687 | CV1596281 | microsatellite | NM_018062.4(FANCL):c.375-13_375-11del | Fanconi anemia [RCV002118550] | likely benign | 2 | 58204237 | 58204239 | Human | | name |
| 152148393 | CV1640306 | single nucleotide variant | NM_018062.4(FANCL):c.39C>G (p.Pro13=) | Fanconi anemia [RCV002157787] | likely benign | 2 | 58241275 | 58241275 | Human | 1 | name |
| 153001505 | CV1684329 | single nucleotide variant | NM_018062.4(FANCL):c.1A>G (p.Met1Val) | Fanconi anemia [RCV002256968]|Fanconi anemia complementation group L [RCV005032201] | pathogenic|likely pathogenic | 2 | 58241313 | 58241313 | Human | 2 | name |
| 156191866 | CV1915986 | single nucleotide variant | NM_018062.4(FANCL):c.51C>T (p.Pro17=) | Fanconi anemia [RCV002595402] | likely benign | 2 | 58241263 | 58241263 | Human | 1 | name |
| 156418870 | CV1918878 | single nucleotide variant | NM_018062.4(FANCL):c.57C>T (p.Asn19=) | Fanconi anemia [RCV002612080] | likely benign | 2 | 58241257 | 58241257 | Human | 1 | name |
| 156200366 | CV1928949 | deletion | NM_018062.4(FANCL):c.904-18_904-15del | Fanconi anemia [RCV002643612] | likely benign | 2 | 58161653 | 58161656 | Human | 1 | name |
| 156214689 | CV2047466 | single nucleotide variant | NM_018062.4(FANCL):c.1A>C (p.Met1Leu) | Fanconi anemia [RCV002790386] | pathogenic|likely pathogenic | 2 | 58241313 | 58241313 | Human | 1 | name |
| 156114754 | CV2084797 | deletion | NM_018062.4(FANCL):c.374+16_374+20del | Fanconi anemia [RCV002889329] | likely benign | 2 | 58221922 | 58221926 | Human | 1 | name |
| 156363499 | CV2180663 | single nucleotide variant | NM_018062.4(FANCL):c.4G>A (p.Ala2Thr) | Fanconi anemia [RCV003049185] | uncertain significance | 2 | 58241310 | 58241310 | Human | 1 | name |
| 11345820 | CV238969 | single nucleotide variant | NM_018062.4(FANCL):c.4G>T (p.Ala2Ser) | Fanconi anemia [RCV000226400]|Fanconi anemia complementation group L [RCV001137468] | uncertain significance | 2 | 58241310 | 58241310 | Human | 2 | name |
| 401929573 | CV2815816 | single nucleotide variant | NM_018062.4(FANCL):c.42G>C (p.Leu14=) | not provided [RCV003407239] | likely benign | 2 | 58241272 | 58241272 | Human | | name |
| 402489460 | CV2880369 | microsatellite | NM_018062.4(FANCL):c.903+16_903+17del | Fanconi anemia [RCV003522252] | likely benign | 2 | 58162849 | 58162850 | Human | | name |
| 404989484 | CV2892880 | single nucleotide variant | NM_018062.4(FANCL):c.30C>T (p.Arg10=) | Fanconi anemia [RCV003524924] | likely benign | 2 | 58241284 | 58241284 | Human | 1 | name |
| 405069592 | CV2897356 | single nucleotide variant | NM_018062.4(FANCL):c.75T>C (p.Tyr25=) | Fanconi anemia [RCV003523725] | likely benign | 2 | 58241239 | 58241239 | Human | 1 | name |
| 405142923 | CV2946538 | single nucleotide variant | NM_018062.4(FANCL):c.90G>T (p.Ser30=) | Fanconi anemia [RCV003636072] | likely benign | 2 | 58241224 | 58241224 | Human | 1 | name |
| 405143240 | CV2947699 | single nucleotide variant | NM_018062.4(FANCL):c.60G>A (p.Arg20=) | Fanconi anemia [RCV003636127] | likely benign | 2 | 58241254 | 58241254 | Human | 1 | name |
| 404997569 | CV3123885 | single nucleotide variant | NM_018062.4(FANCL):c.46C>T (p.Leu16=) | Fanconi anemia [RCV003827792] | likely benign | 2 | 58241268 | 58241268 | Human | 1 | name |
| 405184820 | CV3152838 | deletion | NM_018062.4(FANCL):c.13del (p.Glu5fs) | Fanconi anemia [RCV003842829]|Fanconi anemia complementation group L [RCV004573356] | pathogenic|likely pathogenic | 2 | 58241301 | 58241301 | Human | 2 | name |
| 597689470 | CV3713586 | single nucleotide variant | NM_018062.4(FANCL):c.5C>G (p.Ala2Gly) | Fanconi anemia complementation group L [RCV005032370] | uncertain significance | 2 | 58241309 | 58241309 | Human | 1 | name |
| 597943826 | CV3754892 | single nucleotide variant | NM_018062.4(FANCL):c.33G>A (p.Gln11=) | Fanconi anemia [RCV005078081] | likely benign | 2 | 58241281 | 58241281 | Human | 1 | name |
| 597876998 | CV3813304 | microsatellite | NM_018062.4(FANCL):c.691+14_691+16del | Fanconi anemia [RCV005149240] | likely benign | 2 | 58165708 | 58165710 | Human | | name |
| 13495733 | CV451737 | single nucleotide variant | NM_018062.4(FANCL):c.51C>G (p.Pro17=) | Fanconi anemia [RCV000559837] | likely benign | 2 | 58241263 | 58241263 | Human | 1 | name |
| 13613309 | CV518581 | single nucleotide variant | NM_018062.4(FANCL):c.81A>C (p.Gly27=) | Fanconi anemia [RCV000631019] | likely benign | 2 | 58241233 | 58241233 | Human | 1 | name |
| 13819125 | CV561853 | microsatellite | NM_018062.4(FANCL):c.1092+1_1092+5del | Fanconi anemia [RCV000694144] | likely pathogenic | 2 | 58160103 | 58160107 | Human | | name |
| 13807509 | CV561859 | single nucleotide variant | NM_018062.4(FANCL):c.2T>C (p.Met1Thr) | Fanconi anemia [RCV000686799]|Fanconi anemia complementation group L [RCV001729683]|not provided [RCV001090968]|not specified [RCV001816699] | pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records | 2 | 58241312 | 58241312 | Human | 2 | name |
| 15130605 | CV747722 | single nucleotide variant | NM_018062.4(FANCL):c.39C>A (p.Pro13=) | Fanconi anemia [RCV001482370] | likely benign | 2 | 58241275 | 58241275 | Human | 1 | name |
| 15136319 | CV781408 | single nucleotide variant | NM_018062.4(FANCL):c.93T>C (p.Ala31=) | Fanconi anemia [RCV001517077] | benign | 2 | 58241221 | 58241221 | Human | 1 | name |
| 26893973 | CV826861 | single nucleotide variant | NM_018062.4(FANCL):c.2T>G (p.Met1Arg) | Fanconi anemia [RCV001069191] | pathogenic|likely pathogenic | 2 | 58241312 | 58241312 | Human | 1 | name |
| 28885266 | CV885248 | single nucleotide variant | NM_018062.4(FANCL):c.5C>T (p.Ala2Val) | Fanconi anemia [RCV005093609]|Fanconi anemia complementation group L [RCV001137467]|not specified [RCV001819842] | uncertain significance | 2 | 58241309 | 58241309 | Human | 2 | name |
| 38478814 | CV931535 | single nucleotide variant | NM_018062.4(FANCL):c.3G>A (p.Met1Ile) | Fanconi anemia [RCV001205714] | pathogenic|likely pathogenic | 2 | 58241311 | 58241311 | Human | 1 | name |
| 126726691 | CV1024656 | single nucleotide variant | NM_018062.4(FANCL):c.27G>C (p.Leu9Phe) | Fanconi anemia [RCV001348529]|Fanconi anemia complementation group L [RCV002476605] | uncertain significance | 2 | 58241287 | 58241287 | Human | 2 | name |
| 126763544 | CV1024657 | single nucleotide variant | NM_018062.4(FANCL):c.22C>A (p.Leu8Met) | Fanconi anemia [RCV001341317]|Fanconi anemia complementation group L [RCV002499676] | uncertain significance | 2 | 58241292 | 58241292 | Human | 2 | name |
| 126922972 | CV1041622 | single nucleotide variant | NM_018062.4(FANCL):c.20G>T (p.Ser7Ile) | Fanconi anemia [RCV001365311]|Fanconi anemia complementation group L [RCV002493866] | uncertain significance | 2 | 58241294 | 58241294 | Human | 2 | name |
| 127281143 | CV1091497 | single nucleotide variant | NM_018062.4(FANCL):c.261G>A (p.Leu87=) | Fanconi anemia [RCV001446917] | likely benign | 2 | 58226740 | 58226740 | Human | 1 | name |
| 127305227 | CV1112994 | single nucleotide variant | NM_018062.4(FANCL):c.129T>G (p.Pro43=) | Fanconi anemia [RCV001455212] | likely benign | 2 | 58232080 | 58232080 | Human | 1 | name |
| 151776002 | CV1439467 | single nucleotide variant | NM_018062.4(FANCL):c.20G>C (p.Ser7Thr) | Fanconi anemia [RCV002009295]|Fanconi anemia complementation group L [RCV005025636] | uncertain significance | 2 | 58241294 | 58241294 | Human | 2 | name |
| 152059201 | CV1559007 | single nucleotide variant | NM_018062.4(FANCL):c.153A>G (p.Ala51=) | Fanconi anemia [RCV002167794] | likely benign | 2 | 58232056 | 58232056 | Human | 1 | name |
| 152090489 | CV1563282 | duplication | NM_018062.4(FANCL):c.1093-19_1093-9dup | Fanconi anemia [RCV002114011]|Fanconi anemia complementation group L [RCV002494372] | likely benign | 2 | 58159808 | 58159809 | Human | 2 | name |
| 152079715 | CV1579906 | single nucleotide variant | NM_018062.4(FANCL):c.102A>G (p.Arg34=) | Fanconi anemia [RCV002076205] | likely benign | 2 | 58232107 | 58232107 | Human | 1 | name |
| 156359124 | CV1873962 | single nucleotide variant | NM_018062.4(FANCL):c.213A>G (p.Gln71=) | Fanconi anemia [RCV003065483] | likely benign | 2 | 58229817 | 58229817 | Human | 1 | name |
| 156353085 | CV1879913 | single nucleotide variant | NM_018062.4(FANCL):c.147G>A (p.Lys49=) | Fanconi anemia [RCV003065020] | likely benign | 2 | 58232062 | 58232062 | Human | 1 | name |
| 155960469 | CV1912090 | single nucleotide variant | NM_018062.4(FANCL):c.27G>T (p.Leu9Phe) | Fanconi anemia [RCV002616707] | uncertain significance | 2 | 58241287 | 58241287 | Human | 1 | name |
| 156097531 | CV1920508 | single nucleotide variant | NM_018062.4(FANCL):c.105C>T (p.Asp35=) | Fanconi anemia [RCV002592148] | likely benign | 2 | 58232104 | 58232104 | Human | 1 | name |
| 156083618 | CV1992899 | single nucleotide variant | NM_018062.4(FANCL):c.210A>G (p.Val70=) | Fanconi anemia [RCV002638980] | likely benign | 2 | 58229820 | 58229820 | Human | 1 | name |
| 156366216 | CV2010758 | deletion | NM_018062.4(FANCL):c.28del (p.Arg10fs) | Fanconi anemia [RCV002676578]|Fanconi anemia complementation group L [RCV003465815] | pathogenic|likely pathogenic | 2 | 58241286 | 58241286 | Human | 2 | name |
| 156020432 | CV2109518 | deletion | NM_018062.4(FANCL):c.1093-10_1093-8del | Fanconi anemia [RCV002923035] | likely benign | 2 | 58159808 | 58159810 | Human | 1 | name |
| 401941247 | CV2835797 | deletion | NM_018062.4(FANCL):c.70del (p.Val24fs) | Fanconi anemia complementation group L [RCV003461563] | likely pathogenic | 2 | 58241244 | 58241244 | Human | 1 | name |
| 402490708 | CV2887114 | deletion | NM_018062.4(FANCL):c.1020+9_1020+11del | Fanconi anemia [RCV003525151] | likely benign | 2 | 58161511 | 58161513 | Human | 1 | name |
| 404990823 | CV2889895 | single nucleotide variant | NM_018062.4(FANCL):c.138A>G (p.Leu46=) | Fanconi anemia [RCV003525040] | likely benign | 2 | 58232071 | 58232071 | Human | 1 | name |
| 404991702 | CV2890311 | single nucleotide variant | NM_018062.4(FANCL):c.291T>C (p.Asn97=) | Fanconi anemia [RCV003525130] | likely benign | 2 | 58222025 | 58222025 | Human | 1 | name |
| 405066791 | CV2902730 | single nucleotide variant | NM_018062.4(FANCL):c.141A>G (p.Gln47=) | Fanconi anemia [RCV003523552] | likely benign | 2 | 58232068 | 58232068 | Human | 1 | name |
| 405057640 | CV2922864 | single nucleotide variant | NM_018062.4(FANCL):c.129T>C (p.Pro43=) | Fanconi anemia [RCV003522704] | likely benign | 2 | 58232080 | 58232080 | Human | 1 | name |
| 405152230 | CV2952781 | single nucleotide variant | NM_018062.4(FANCL):c.150T>C (p.Asn50=) | Fanconi anemia [RCV003636918] | likely benign | 2 | 58232059 | 58232059 | Human | 1 | name |
| 405145160 | CV2953882 | single nucleotide variant | NM_018062.4(FANCL):c.240A>C (p.Leu80=) | Fanconi anemia [RCV003636286] | likely benign | 2 | 58226761 | 58226761 | Human | 1 | name |
| 405166377 | CV3017432 | single nucleotide variant | NM_018062.4(FANCL):c.276A>G (p.Glu92=) | Fanconi anemia [RCV003638098] | likely benign | 2 | 58222040 | 58222040 | Human | 1 | name |
| 405149368 | CV3068617 | single nucleotide variant | NM_018062.4(FANCL):c.234T>C (p.Pro78=) | Fanconi anemia [RCV003636679] | likely benign | 2 | 58226767 | 58226767 | Human | 1 | name |
| 405042467 | CV3141226 | single nucleotide variant | NM_018062.4(FANCL):c.202C>A (p.Arg68=) | Fanconi anemia [RCV003831519] | likely benign | 2 | 58229828 | 58229828 | Human | 1 | name |
| 402495180 | CV3183066 | single nucleotide variant | NM_018062.4(FANCL):c.282C>T (p.Ala94=) | Fanconi anemia [RCV003877374] | likely benign | 2 | 58222034 | 58222034 | Human | 1 | name |
| 407492463 | CV3432089 | single nucleotide variant | NM_018062.4(FANCL):c.17C>T (p.Ala6Val) | Inborn genetic diseases [RCV004620787] | uncertain significance | 2 | 58241297 | 58241297 | Human | 1 | name |
| 597649379 | CV3713584 | deletion | NM_018062.4(FANCL):c.52del (p.Gln18fs) | Fanconi anemia complementation group L [RCV005026667] | likely pathogenic | 2 | 58241262 | 58241262 | Human | 1 | name |
| 597956497 | CV3838233 | single nucleotide variant | NM_018062.4(FANCL):c.22C>G (p.Leu8Val) | Fanconi anemia [RCV005191608] | uncertain significance | 2 | 58241292 | 58241292 | Human | 1 | name |
| 13801486 | CV558249 | duplication | NM_018062.4(FANCL):c.40dup (p.Leu14fs) | Fanconi anemia [RCV000697873] | pathogenic | 2 | 58241273 | 58241274 | Human | 1 | name |
| 15128998 | CV691186 | single nucleotide variant | NM_018062.4(FANCL):c.117G>A (p.Arg39=) | Fanconi anemia [RCV001391723] | likely benign | 2 | 58232092 | 58232092 | Human | 1 | name |
| 26900653 | CV826860 | single nucleotide variant | NM_018062.4(FANCL):c.21C>G (p.Ser7Arg) | Fanconi anemia [RCV001035382] | uncertain significance | 2 | 58241293 | 58241293 | Human | 1 | name |
| 38488463 | CV931534 | single nucleotide variant | NM_018062.4(FANCL):c.20G>A (p.Ser7Asn) | Fanconi anemia [RCV001209758]|Fanconi anemia complementation group L [RCV002491640] | uncertain significance | 2 | 58241294 | 58241294 | Human | 2 | name |
| 38473885 | CV943055 | deletion | NM_018062.4(FANCL):c.40del (p.Leu14fs) | Fanconi anemia [RCV001231987]|Fanconi anemia complementation group L [RCV002480759] | pathogenic|likely pathogenic | 2 | 58241274 | 58241274 | Human | 2 | name |
| 127294526 | CV1112990 | single nucleotide variant | NM_018062.4(FANCL):c.948C>T (p.Asp316=) | Fanconi anemia [RCV001476843] | likely benign | 2 | 58161594 | 58161594 | Human | 1 | name |
| 127288038 | CV1112992 | single nucleotide variant | NM_018062.4(FANCL):c.873T>C (p.Asp291=) | Fanconi anemia [RCV001450343] | likely benign | 2 | 58162896 | 58162896 | Human | 1 | name |
| 150412494 | CV1176196 | microsatellite | NM_018062.4(FANCL):c.540+178_540+179del | not provided [RCV001547537] | likely benign | 2 | 58198415 | 58198416 | Human | | name |
| 150419430 | CV1193181 | deletion | NM_018062.4(FANCL):c.156-263_156-262del | not provided [RCV001569685] | likely benign | 2 | 58230136 | 58230137 | Human | | name |
| 150451514 | CV1207221 | single nucleotide variant | NM_018062.4(FANCL):c.50C>G (p.Pro17Arg) | Fanconi anemia [RCV002573350]|Fanconi anemia complementation group L [RCV002477857]|not specified [RCV001582350] | uncertain significance | 2 | 58241264 | 58241264 | Human | 2 | name |
| 150481063 | CV1222091 | duplication | NM_018062.4(FANCL):c.541-292_541-290dup | not provided [RCV001616888] | benign | 2 | 58166163 | 58166164 | Human | | name |
| 151355302 | CV1328369 | single nucleotide variant | NM_018062.4(FANCL):c.35G>A (p.Cys12Tyr) | Fanconi anemia [RCV002542614]|not specified [RCV001820374] | uncertain significance | 2 | 58241279 | 58241279 | Human | 1 | name |
| 151729563 | CV1335387 | single nucleotide variant | NM_018062.4(FANCL):c.49C>T (p.Pro17Ser) | not specified [RCV001844705] | uncertain significance | 2 | 58241265 | 58241265 | Human | | name |
| 151892244 | CV1337501 | single nucleotide variant | NM_018062.4(FANCL):c.942A>G (p.Gln314=) | Fanconi anemia [RCV001943911] | likely benign|uncertain significance | 2 | 58161600 | 58161600 | Human | 1 | name |
| 151860165 | CV1389799 | single nucleotide variant | NM_018062.4(FANCL):c.57C>G (p.Asn19Lys) | Fanconi anemia [RCV001905173] | uncertain significance | 2 | 58241257 | 58241257 | Human | 1 | name |
| 151799658 | CV1396576 | single nucleotide variant | NM_018062.4(FANCL):c.28C>G (p.Arg10Gly) | Fanconi anemia [RCV001917595]|Fanconi anemia complementation group L [RCV002503507] | uncertain significance | 2 | 58241286 | 58241286 | Human | 2 | name |
| 151775669 | CV1413647 | single nucleotide variant | NM_018062.4(FANCL):c.894G>T (p.Leu298=) | Fanconi anemia [RCV001971604] | likely benign | 2 | 58162875 | 58162875 | Human | 1 | name |
| 151784072 | CV1474546 | single nucleotide variant | NM_018062.4(FANCL):c.44T>A (p.Leu15His) | Fanconi anemia [RCV001930715] | uncertain significance | 2 | 58241270 | 58241270 | Human | 1 | name |
| 151757615 | CV1509035 | single nucleotide variant | NM_018062.4(FANCL):c.727A>C (p.Arg243=) | Fanconi anemia [RCV002024013] | likely benign | 2 | 58163482 | 58163482 | Human | 1 | name |
| 152130416 | CV1519686 | deletion | NM_018062.4(FANCL):c.1093-34_1093-16del | Fanconi anemia [RCV002155453] | likely benign | 2 | 58159816 | 58159834 | Human | 1 | name |
| 152117230 | CV1524062 | single nucleotide variant | NM_018062.4(FANCL):c.588A>T (p.Ser196=) | Fanconi anemia [RCV002135251] | likely benign | 2 | 58165827 | 58165827 | Human | 1 | name |
| 152089663 | CV1535627 | single nucleotide variant | NM_018062.4(FANCL):c.381G>T (p.Val127=) | Fanconi anemia [RCV002150425] | likely benign | 2 | 58204220 | 58204220 | Human | 1 | name |
| 152077111 | CV1536332 | single nucleotide variant | NM_018062.4(FANCL):c.528C>T (p.Ser176=) | Fanconi anemia [RCV002148830] | likely benign | 2 | 58198606 | 58198606 | Human | 1 | name |
| 152081856 | CV1548339 | single nucleotide variant | NM_018062.4(FANCL):c.921T>C (p.Cys307=) | Fanconi anemia [RCV002076474] | likely benign | 2 | 58161621 | 58161621 | Human | 1 | name |
| 152077338 | CV1564661 | single nucleotide variant | NM_018062.4(FANCL):c.750G>A (p.Glu250=) | Fanconi anemia [RCV002192587] | likely benign | 2 | 58163459 | 58163459 | Human | 1 | name |
| 152136744 | CV1580305 | single nucleotide variant | NM_018062.4(FANCL):c.435T>G (p.Gly145=) | Fanconi anemia [RCV002156235] | likely benign | 2 | 58204166 | 58204166 | Human | 1 | name |
| 152056376 | CV1588214 | single nucleotide variant | NM_018062.4(FANCL):c.561T>C (p.Tyr187=) | Fanconi anemia [RCV002190014] | likely benign | 2 | 58165854 | 58165854 | Human | 1 | name |
| 152093205 | CV1593347 | single nucleotide variant | NM_018062.4(FANCL):c.507T>C (p.Phe169=) | Fanconi anemia [RCV002094478] | likely benign | 2 | 58198627 | 58198627 | Human | 1 | name |
| 152066974 | CV1601817 | single nucleotide variant | NM_018062.4(FANCL):c.589C>T (p.Leu197=) | Fanconi anemia [RCV002168798] | likely benign | 2 | 58165826 | 58165826 | Human | 1 | name |
| 152113707 | CV1605974 | single nucleotide variant | NM_018062.4(FANCL):c.310C>T (p.Leu104=) | Fanconi anemia [RCV002116897] | likely benign | 2 | 58222006 | 58222006 | Human | 1 | name |
| 152155832 | CV1620660 | single nucleotide variant | NM_018062.4(FANCL):c.525C>T (p.Ala175=) | Fanconi anemia [RCV002122404]|Fanconi anemia complementation group L [RCV002499976] | likely benign | 2 | 58198609 | 58198609 | Human | 2 | name |
| 152139705 | CV1625017 | single nucleotide variant | NM_018062.4(FANCL):c.384T>C (p.Tyr128=) | Fanconi anemia [RCV002219210] | likely benign | 2 | 58204217 | 58204217 | Human | 1 | name |
| 152141810 | CV1626051 | single nucleotide variant | NM_018062.4(FANCL):c.591A>G (p.Leu197=) | Fanconi anemia [RCV002138271] | likely benign | 2 | 58165824 | 58165824 | Human | 1 | name |
| 152076440 | CV1632709 | single nucleotide variant | NM_018062.4(FANCL):c.804C>T (p.Ser268=) | Fanconi anemia [RCV002169978] | likely benign | 2 | 58163046 | 58163046 | Human | 1 | name |
| 152029480 | CV1653259 | single nucleotide variant | NM_018062.4(FANCL):c.879A>T (p.Pro293=) | Fanconi anemia [RCV002085817] | likely benign | 2 | 58162890 | 58162890 | Human | 1 | name |
| 152091647 | CV1655059 | single nucleotide variant | NM_018062.4(FANCL):c.417A>G (p.Lys139=) | Fanconi anemia [RCV002212808] | likely benign | 2 | 58204184 | 58204184 | Human | 1 | name |
| 153001077 | CV1684331 | single nucleotide variant | NM_018062.4(FANCL):c.624T>C (p.Asp208=) | Fanconi anemia [RCV002255790] | likely benign | 2 | 58165791 | 58165791 | Human | 1 | name |
| 155266767 | CV1699305 | single nucleotide variant | NM_018062.4(FANCL):c.37C>G (p.Pro13Ala) | not provided [RCV002283100] | uncertain significance | 2 | 58241277 | 58241277 | Human | | name |
| 155268250 | CV1701684 | duplication | NM_018062.4(FANCL):c.1_22dup (p.Leu8fs) | Fanconi anemia complementation group L [RCV002283914] | likely pathogenic | 2 | 58241291 | 58241292 | Human | 1 | name |
| 156396641 | CV1870872 | deletion | NM_018062.4(FANCL):c.1021-22_1021-20del | Fanconi anemia [RCV003068673] | likely benign | 2 | 58160199 | 58160201 | Human | 1 | name |
| 156117871 | CV1877518 | single nucleotide variant | NM_018062.4(FANCL):c.46C>A (p.Leu16Met) | Fanconi anemia [RCV003081310]|Inborn genetic diseases [RCV004978538] | uncertain significance | 2 | 58241268 | 58241268 | Human | 2 | name |
| 156412661 | CV1886827 | single nucleotide variant | NM_018062.4(FANCL):c.68C>T (p.Thr23Ile) | Fanconi anemia [RCV003072986]|Fanconi anemia complementation group L [RCV005028207] | uncertain significance | 2 | 58241246 | 58241246 | Human | 2 | name |
| 156043527 | CV1887299 | single nucleotide variant | NM_018062.4(FANCL):c.324C>G (p.Pro108=) | Fanconi anemia [RCV003078612] | likely benign | 2 | 58221992 | 58221992 | Human | 1 | name |
| 156406816 | CV1917876 | single nucleotide variant | NM_018062.4(FANCL):c.951T>G (p.Gly317=) | Fanconi anemia [RCV002606711] | likely benign | 2 | 58161591 | 58161591 | Human | 1 | name |
| 156162992 | CV1934732 | single nucleotide variant | NM_018062.4(FANCL):c.62C>G (p.Ser21Trp) | Fanconi anemia [RCV002664320] | uncertain significance | 2 | 58241252 | 58241252 | Human | 1 | name |
| 156236215 | CV1952793 | single nucleotide variant | NM_018062.4(FANCL):c.699T>C (p.Asn233=) | Fanconi anemia [RCV002576062] | likely benign | 2 | 58163510 | 58163510 | Human | 1 | name |
| 156094686 | CV1980840 | single nucleotide variant | NM_018062.4(FANCL):c.35G>C (p.Cys12Ser) | Fanconi anemia [RCV002621986] | uncertain significance | 2 | 58241279 | 58241279 | Human | 1 | name |
| 155904806 | CV2007267 | single nucleotide variant | NM_018062.4(FANCL):c.405C>G (p.Thr135=) | Fanconi anemia [RCV002681327] | likely benign | 2 | 58204196 | 58204196 | Human | 1 | name |
| 10404682 | CV205671 | deletion | NM_018062.4(FANCL):c.268del (p.Leu90fs) | Fanconi anemia [RCV001388973]|Fanconi anemia complementation group L [RCV000191022]|VATER association [RCV001195063] | pathogenic | 2 | 58226733 | 58226733 | Human | 3 | name |
| 156128809 | CV2125039 | single nucleotide variant | NM_018062.4(FANCL):c.456C>G (p.Leu152=) | Fanconi anemia [RCV002953798] | likely benign | 2 | 58204145 | 58204145 | Human | 1 | name |
| 10767359 | CV221318 | single nucleotide variant | NM_018062.4(FANCL):c.693T>G (p.Gly231=) | Fanconi anemia [RCV002515516] | likely benign | 2 | 58163516 | 58163516 | Human | 1 | name |
| 243058931 | CV2410006 | single nucleotide variant | NM_018062.4(FANCL):c.56A>G (p.Asn19Ser) | Fanconi anemia complementation group L [RCV003147180] | uncertain significance | 2 | 58241258 | 58241258 | Human | 1 | name |
| 11551831 | CV250750 | single nucleotide variant | NM_018062.4(FANCL):c.981T>C (p.Ser327=) | Fanconi anemia [RCV000282580]|Fanconi anemia complementation group L [RCV001094693]|not provided [RCV001706324]|not specified [RCV000253562] | benign | 2 | 58161561 | 58161561 | Human | 3 | name |
| 11551831 | CV250750 | single nucleotide variant | NM_018062.4(FANCL):c.981T>C (p.Ser327=) | Fanconi anemia [RCV000282580]|Fanconi anemia complementation group L [RCV001094693]|not provided [RCV001706324]|not specified [RCV000253562] | benign | 2 | 58161561 | 58161562 | Human | 3 | name |
| 401941240 | CV2835787 | single nucleotide variant | NM_018062.4(FANCL):c.89C>A (p.Ser30Ter) | Fanconi anemia [RCV003636036]|Fanconi anemia complementation group L [RCV003461556] | pathogenic|likely pathogenic | 2 | 58241225 | 58241225 | Human | 2 | name |
| 401941244 | CV2835794 | single nucleotide variant | NM_018062.4(FANCL):c.64A>T (p.Lys22Ter) | Fanconi anemia complementation group L [RCV003461560] | likely pathogenic | 2 | 58241250 | 58241250 | Human | 1 | name |
| 405074197 | CV2856161 | single nucleotide variant | NM_018062.4(FANCL):c.805A>C (p.Arg269=) | Fanconi anemia [RCV003524041] | uncertain significance | 2 | 58163045 | 58163045 | Human | 1 | name |
| 11593452 | CV287621 | single nucleotide variant | NM_018062.4(FANCL):c.969G>A (p.Val323=) | Fanconi anemia [RCV001450124]|Fanconi anemia complementation group L [RCV000349182] | likely benign|uncertain significance | 2 | 58161573 | 58161573 | Human | 2 | name |
| 405077507 | CV2878693 | single nucleotide variant | NM_018062.4(FANCL):c.666T>C (p.Ser222=) | Fanconi anemia [RCV003524270] | likely benign | 2 | 58165749 | 58165749 | Human | 1 | name |
| 405053715 | CV2884558 | single nucleotide variant | NM_018062.4(FANCL):c.480A>G (p.Ala160=) | Fanconi anemia [RCV003522392] | likely benign | 2 | 58198654 | 58198654 | Human | 1 | name |
| 404989515 | CV2893001 | single nucleotide variant | NM_018062.4(FANCL):c.528C>G (p.Ser176=) | Fanconi anemia [RCV003524928] | likely benign | 2 | 58198606 | 58198606 | Human | 1 | name |
| 404992196 | CV2894085 | deletion | NM_018062.4(FANCL):c.235del (p.Asp79fs) | Fanconi anemia [RCV003525191] | pathogenic | 2 | 58226766 | 58226766 | Human | 1 | name |
| 402490776 | CV2894158 | duplication | NM_018062.4(FANCL):c.1021-18_1021-14dup | Fanconi anemia [RCV003525194] | likely benign | 2 | 58160192 | 58160193 | Human | 1 | name |
| 405069410 | CV2896973 | single nucleotide variant | NM_018062.4(FANCL):c.654A>G (p.Lys218=) | Fanconi anemia [RCV003523712] | likely benign | 2 | 58165761 | 58165761 | Human | 1 | name |
| 405079181 | CV2913287 | single nucleotide variant | NM_018062.4(FANCL):c.954C>T (p.Thr318=) | Fanconi anemia [RCV003524413] | likely benign | 2 | 58161588 | 58161588 | Human | 1 | name |
| 405079424 | CV2919487 | single nucleotide variant | NM_018062.4(FANCL):c.80G>T (p.Gly27Val) | Fanconi anemia [RCV003524437] | uncertain significance | 2 | 58241234 | 58241234 | Human | 1 | name |
| 404986599 | CV2920962 | single nucleotide variant | NM_018062.4(FANCL):c.642T>C (p.Leu214=) | Fanconi anemia [RCV003524608] | likely benign | 2 | 58165773 | 58165773 | Human | 1 | name |
| 405058709 | CV2923251 | single nucleotide variant | NM_018062.4(FANCL):c.330C>T (p.Phe110=) | Fanconi anemia [RCV003522767] | likely benign | 2 | 58221986 | 58221986 | Human | 1 | name |
| 405056682 | CV2928624 | single nucleotide variant | NM_018062.4(FANCL):c.768T>C (p.Ala256=) | Fanconi anemia [RCV003522623] | likely benign | 2 | 58163441 | 58163441 | Human | 1 | name |
| 404988574 | CV2931236 | single nucleotide variant | NM_018062.4(FANCL):c.702T>C (p.Val234=) | Fanconi anemia [RCV003524805] | likely benign | 2 | 58163507 | 58163507 | Human | 1 | name |
| 405142673 | CV2946187 | single nucleotide variant | NM_018062.4(FANCL):c.924A>T (p.Gly308=) | Fanconi anemia [RCV003636049] | likely benign | 2 | 58161618 | 58161618 | Human | 1 | name |
| 405153956 | CV2965334 | single nucleotide variant | NM_018062.4(FANCL):c.933T>C (p.Tyr311=) | Fanconi anemia [RCV003637051] | likely benign | 2 | 58161609 | 58161609 | Human | 1 | name |
| 405153197 | CV2974789 | single nucleotide variant | NM_018062.4(FANCL):c.336A>G (p.Ser112=) | Fanconi anemia [RCV003636993] | likely benign | 2 | 58221980 | 58221980 | Human | 1 | name |
| 405155511 | CV2984632 | single nucleotide variant | NM_018062.4(FANCL):c.819G>A (p.Leu273=) | Fanconi anemia [RCV003637172] | likely benign | 2 | 58163031 | 58163031 | Human | 1 | name |
| 405155538 | CV2984673 | single nucleotide variant | NM_018062.4(FANCL):c.858T>C (p.Asp286=) | Fanconi anemia [RCV003637174] | likely benign | 2 | 58162911 | 58162911 | Human | 1 | name |
| 405156090 | CV2988307 | single nucleotide variant | NM_018062.4(FANCL):c.786C>T (p.Pro262=) | Fanconi anemia [RCV003637222] | likely benign | 2 | 58163064 | 58163064 | Human | 1 | name |
| 405161877 | CV3002019 | single nucleotide variant | NM_018062.4(FANCL):c.513T>C (p.Val171=) | Fanconi anemia [RCV003637690] | likely benign | 2 | 58198621 | 58198621 | Human | 1 | name |
| 405164109 | CV3011848 | single nucleotide variant | NM_018062.4(FANCL):c.345T>A (p.Ile115=) | Fanconi anemia [RCV003637892] | likely benign | 2 | 58221971 | 58221971 | Human | 1 | name |
| 405040527 | CV3015344 | deletion | NM_018062.4(FANCL):c.1021-23_1021-15del | Fanconi anemia [RCV003637946] | likely benign | 2 | 58160194 | 58160202 | Human | 1 | name |
| 405166513 | CV3017724 | single nucleotide variant | NM_018062.4(FANCL):c.543C>T (p.Ser181=) | Fanconi anemia [RCV003638111] | likely benign | 2 | 58165872 | 58165872 | Human | 1 | name |
| 405136912 | CV3022454 | single nucleotide variant | NM_018062.4(FANCL):c.450C>A (p.Ile150=) | Fanconi anemia [RCV003635461] | likely benign | 2 | 58204151 | 58204151 | Human | 1 | name |
| 405138148 | CV3027084 | single nucleotide variant | NM_018062.4(FANCL):c.309A>G (p.Ala103=) | Fanconi anemia [RCV003635557] | likely benign | 2 | 58222007 | 58222007 | Human | 1 | name |
| 405140652 | CV3046495 | single nucleotide variant | NM_018062.4(FANCL):c.62C>A (p.Ser21Ter) | Fanconi anemia [RCV003635803] | pathogenic | 2 | 58241252 | 58241252 | Human | 1 | name |
| 405140983 | CV3050211 | single nucleotide variant | NM_018062.4(FANCL):c.834T>C (p.Asn278=) | Fanconi anemia [RCV003635833] | likely benign | 2 | 58162935 | 58162935 | Human | 1 | name |
| 405147671 | CV3052291 | single nucleotide variant | NM_018062.4(FANCL):c.318T>C (p.Pro106=) | Fanconi anemia [RCV003636524] | likely benign | 2 | 58221998 | 58221998 | Human | 1 | name |
| 405140380 | CV3053011 | single nucleotide variant | NM_018062.4(FANCL):c.663G>T (p.Arg221=) | Fanconi anemia [RCV003635779] | likely benign | 2 | 58165752 | 58165752 | Human | 1 | name |
| 405141274 | CV3053877 | single nucleotide variant | NM_018062.4(FANCL):c.801G>A (p.Leu267=) | Fanconi anemia [RCV003635861] | likely benign|uncertain significance | 2 | 58163049 | 58163049 | Human | 1 | name |
| 405150990 | CV3066542 | single nucleotide variant | NM_018062.4(FANCL):c.31C>T (p.Gln11Ter) | Fanconi anemia [RCV003636821] | pathogenic | 2 | 58241283 | 58241283 | Human | 1 | name |
| 405158739 | CV3071202 | single nucleotide variant | NM_018062.4(FANCL):c.312A>G (p.Leu104=) | Fanconi anemia [RCV003637438] | likely benign | 2 | 58222004 | 58222004 | Human | 1 | name |
| 405151808 | CV3073502 | single nucleotide variant | NM_018062.4(FANCL):c.693T>C (p.Gly231=) | Fanconi anemia [RCV003636885] | likely benign | 2 | 58163516 | 58163516 | Human | 1 | name |
| 405158578 | CV3073832 | single nucleotide variant | NM_018062.4(FANCL):c.936T>G (p.Ala312=) | Fanconi anemia [RCV003637425] | likely benign | 2 | 58161606 | 58161606 | Human | 1 | name |
| 405181185 | CV3119929 | single nucleotide variant | NM_018062.4(FANCL):c.726C>A (p.Pro242=) | Fanconi anemia [RCV003820022] | likely benign | 2 | 58163483 | 58163483 | Human | 1 | name |
| 405197498 | CV3132055 | duplication | NM_018062.4(FANCL):c.1021-18_1021-15dup | Fanconi anemia [RCV003821648] | likely benign | 2 | 58160193 | 58160194 | Human | 1 | name |
| 404993149 | CV3132352 | single nucleotide variant | NM_018062.4(FANCL):c.663G>C (p.Arg221=) | Fanconi anemia [RCV003827290] | likely benign | 2 | 58165752 | 58165752 | Human | 1 | name |
| 405218526 | CV3143859 | single nucleotide variant | NM_018062.4(FANCL):c.333C>T (p.Tyr111=) | Fanconi anemia [RCV003846829] | likely benign | 2 | 58221983 | 58221983 | Human | 1 | name |
| 405204164 | CV3165505 | single nucleotide variant | NM_018062.4(FANCL):c.47T>G (p.Leu16Arg) | Fanconi anemia [RCV003861171] | uncertain significance | 2 | 58241267 | 58241267 | Human | 1 | name |
| 405195659 | CV3168063 | single nucleotide variant | NM_018062.4(FANCL):c.429T>C (p.Ala143=) | Fanconi anemia [RCV003860195] | likely benign | 2 | 58204172 | 58204172 | Human | 1 | name |
| 405254239 | CV3175050 | single nucleotide variant | NM_018062.4(FANCL):c.363T>C (p.Leu121=) | Fanconi anemia [RCV003871502] | likely benign | 2 | 58221953 | 58221953 | Human | 1 | name |
| 405254501 | CV3175169 | single nucleotide variant | NM_018062.4(FANCL):c.390T>C (p.Asp130=) | Fanconi anemia [RCV003871621] | likely benign | 2 | 58204211 | 58204211 | Human | 1 | name |
| 405762491 | CV3253027 | single nucleotide variant | NM_018062.4(FANCL):c.28C>A (p.Arg10Ser) | Inborn genetic diseases [RCV004383743] | uncertain significance | 2 | 58241286 | 58241286 | Human | 1 | name |
| 597649325 | CV3713572 | single nucleotide variant | NM_018062.4(FANCL):c.375A>G (p.Lys125=) | Fanconi anemia complementation group L [RCV005026661] | uncertain significance | 2 | 58204226 | 58204226 | Human | 1 | name |
| 597689460 | CV3713582 | single nucleotide variant | NM_018062.4(FANCL):c.87C>G (p.Ile29Met) | Fanconi anemia complementation group L [RCV005032369] | uncertain significance | 2 | 58241227 | 58241227 | Human | 1 | name |
| 597649369 | CV3713583 | single nucleotide variant | NM_018062.4(FANCL):c.58C>T (p.Arg20Trp) | Fanconi anemia complementation group L [RCV005026666]|Inborn genetic diseases [RCV005336043] | uncertain significance | 2 | 58241256 | 58241256 | Human | 2 | name |
| 597649387 | CV3713585 | single nucleotide variant | NM_018062.4(FANCL):c.36C>G (p.Cys12Trp) | Fanconi anemia complementation group L [RCV005026668] | uncertain significance | 2 | 58241278 | 58241278 | Human | 1 | name |
| 597940392 | CV3772032 | single nucleotide variant | NM_018062.4(FANCL):c.309A>C (p.Ala103=) | Fanconi anemia [RCV005118287] | likely benign | 2 | 58222007 | 58222007 | Human | 1 | name |
| 597926729 | CV3778533 | single nucleotide variant | NM_018062.4(FANCL):c.444T>C (p.His148=) | Fanconi anemia [RCV005131056] | likely benign | 2 | 58204157 | 58204157 | Human | 1 | name |
| 597927717 | CV3783508 | single nucleotide variant | NM_018062.4(FANCL):c.672A>G (p.Thr224=) | Fanconi anemia [RCV005116196] | likely benign | 2 | 58165743 | 58165743 | Human | 1 | name |
| 597876759 | CV3813270 | single nucleotide variant | NM_018062.4(FANCL):c.351G>A (p.Glu117=) | Fanconi anemia [RCV005149206] | likely benign | 2 | 58221965 | 58221965 | Human | 1 | name |
| 597868117 | CV3858246 | single nucleotide variant | NM_018062.4(FANCL):c.405C>T (p.Thr135=) | Fanconi anemia [RCV005196989] | likely benign | 2 | 58204196 | 58204196 | Human | 1 | name |
| 12890206 | CV393035 | single nucleotide variant | NM_018062.4(FANCL):c.817T>C (p.Leu273=) | Fanconi anemia [RCV000474184]|Fanconi anemia complementation group L [RCV001140350]|not specified [RCV000502034] | benign|likely benign | 2 | 58163033 | 58163033 | Human | 2 | name |
| 12880699 | CV393038 | single nucleotide variant | NM_018062.4(FANCL):c.387G>A (p.Ala129=) | Fanconi anemia [RCV000456498]|not specified [RCV003151070] | likely benign | 2 | 58204214 | 58204214 | Human | 1 | name |
| 12889620 | CV393231 | single nucleotide variant | NM_018062.4(FANCL):c.534A>G (p.Thr178=) | Fanconi anemia [RCV000473068]|Fanconi anemia complementation group L [RCV001142206]|not provided [RCV002469161]|not specified [RCV001821349] | likely benign|uncertain significance | 2 | 58198600 | 58198600 | Human | 2 | name |
| 12890161 | CV393423 | single nucleotide variant | NM_018062.4(FANCL):c.918T>C (p.Asp306=) | Fanconi anemia [RCV000474108] | likely benign | 2 | 58161624 | 58161624 | Human | 1 | name |
| 12882499 | CV393424 | single nucleotide variant | NM_018062.4(FANCL):c.846A>G (p.Gln282=) | FANCL-related disorder [RCV003932745]|Fanconi anemia [RCV000459783] | likely benign | 2 | 58162923 | 58162923 | Human | 2 | name , trait , alternate_id |
| 13213009 | CV428080 | single nucleotide variant | NM_018062.4(FANCL):c.402T>C (p.Ser134=) | Fanconi anemia [RCV000546166]|not provided [RCV004711132]|not specified [RCV000499501] | benign|likely benign | 2 | 58204199 | 58204199 | Human | 1 | name |
| 13481997 | CV451534 | single nucleotide variant | NM_018062.4(FANCL):c.705C>T (p.Ser235=) | Fanconi anemia [RCV000529205] | likely benign | 2 | 58163504 | 58163504 | Human | 1 | name |
| 15155226 | CV686228 | single nucleotide variant | NM_018062.4(FANCL):c.621C>T (p.Ile207=) | Fanconi anemia [RCV000868003]|Fanconi anemia complementation group L [RCV002495276]|not provided [RCV005427327] | likely benign | 2 | 58165794 | 58165794 | Human | 2 | name |
| 15149781 | CV686229 | single nucleotide variant | NM_018062.4(FANCL):c.546C>T (p.Ser182=) | FANCL-related disorder [RCV003908229]|Fanconi anemia [RCV000866923]|not provided [RCV003413686] | likely benign | 2 | 58165869 | 58165869 | Human | 2 | name , trait , alternate_id |
| 15111289 | CV691185 | single nucleotide variant | NM_018062.4(FANCL):c.420A>G (p.Ala140=) | Fanconi anemia [RCV000872284] | likely benign | 2 | 58204181 | 58204181 | Human | 1 | name |
| 15168385 | CV697608 | single nucleotide variant | NM_018062.4(FANCL):c.993A>G (p.Gln331=) | Fanconi anemia [RCV003635933] | likely benign | 2 | 58161549 | 58161549 | Human | 1 | name |
| 26908303 | CV826856 | single nucleotide variant | NM_018062.4(FANCL):c.378T>A (p.Leu126=) | Fanconi anemia [RCV001038280]|Fanconi anemia complementation group L [RCV001142211] | likely benign|uncertain significance | 2 | 58204223 | 58204223 | Human | 2 | name |
| 26899544 | CV826857 | single nucleotide variant | NM_018062.4(FANCL):c.89C>G (p.Ser30Trp) | Fanconi anemia [RCV001049262] | uncertain significance | 2 | 58241225 | 58241225 | Human | 1 | name |
| 26902195 | CV826858 | single nucleotide variant | NM_018062.4(FANCL):c.76G>C (p.Glu26Gln) | Fanconi anemia [RCV001035896]|Fanconi anemia complementation group L [RCV002481853] | uncertain significance | 2 | 58241238 | 58241238 | Human | 2 | name |
| 26886162 | CV826859 | single nucleotide variant | NM_018062.4(FANCL):c.36C>A (p.Cys12Ter) | Fanconi anemia [RCV001044015] | pathogenic | 2 | 58241278 | 58241278 | Human | 1 | name |
| 28894003 | CV885242 | single nucleotide variant | NM_018062.4(FANCL):c.795T>C (p.Ile265=) | Fanconi anemia complementation group L [RCV001140351] | uncertain significance | 2 | 58163055 | 58163055 | Human | 1 | name |
| 38496645 | CV943054 | single nucleotide variant | NM_018062.4(FANCL):c.44T>C (p.Leu15Pro) | Fanconi anemia [RCV001226529] | uncertain significance | 2 | 58241270 | 58241270 | Human | 1 | name |
| 126748794 | CV1004187 | single nucleotide variant | NM_018062.4(FANCL):c.203G>A (p.Arg68Gln) | Fanconi anemia [RCV001326408]|Fanconi anemia complementation group L [RCV002493704] | uncertain significance | 2 | 58229827 | 58229827 | Human | 2 | name |
| 127273348 | CV1059424 | single nucleotide variant | NM_018062.4(FANCL):c.202C>T (p.Arg68Ter) | Fanconi anemia [RCV001390762]|Fanconi anemia complementation group L [RCV004570975] | pathogenic|likely pathogenic | 2 | 58229828 | 58229828 | Human | 2 | name |
| 151355412 | CV1328479 | single nucleotide variant | NM_018062.4(FANCL):c.110A>T (p.His37Leu) | not specified [RCV001820484] | uncertain significance | 2 | 58232099 | 58232099 | Human | | name |
| 151805691 | CV1340110 | single nucleotide variant | NM_018062.4(FANCL):c.274G>A (p.Glu92Lys) | Fanconi anemia [RCV001867533] | uncertain significance | 2 | 58222042 | 58222042 | Human | 1 | name |
| 151782656 | CV1347384 | single nucleotide variant | NM_018062.4(FANCL):c.224A>G (p.Gln75Arg) | Fanconi anemia [RCV002046313] | uncertain significance | 2 | 58226777 | 58226777 | Human | 1 | name |
| 151824702 | CV1350986 | single nucleotide variant | NM_018062.4(FANCL):c.295C>T (p.Gln99Ter) | Fanconi anemia [RCV001919910] | pathogenic | 2 | 58222021 | 58222021 | Human | 1 | name |
| 151792563 | CV1351119 | single nucleotide variant | NM_018062.4(FANCL):c.173A>G (p.Gln58Arg) | Fanconi anemia [RCV001990216] | uncertain significance | 2 | 58229857 | 58229857 | Human | 1 | name |
| 151802888 | CV1352163 | single nucleotide variant | NM_018062.4(FANCL):c.155G>A (p.Arg52Lys) | Fanconi anemia [RCV002048142]|Fanconi anemia complementation group L [RCV005232771] | uncertain significance | 2 | 58232054 | 58232054 | Human | 2 | name |
| 151751380 | CV1385368 | single nucleotide variant | NM_018062.4(FANCL):c.197A>G (p.Tyr66Cys) | Fanconi anemia [RCV001969222] | uncertain significance | 2 | 58229833 | 58229833 | Human | 1 | name |
| 151874781 | CV1388223 | single nucleotide variant | NM_018062.4(FANCL):c.167G>C (p.Ser56Thr) | Fanconi anemia [RCV001981761] | uncertain significance | 2 | 58229863 | 58229863 | Human | 1 | name |
| 151790041 | CV1399758 | single nucleotide variant | NM_018062.4(FANCL):c.1005A>G (p.Gln335=) | Fanconi anemia [RCV001916729] | likely benign|uncertain significance | 2 | 58161537 | 58161537 | Human | 1 | name |
| 151796845 | CV1400972 | single nucleotide variant | NM_018062.4(FANCL):c.121G>T (p.Val41Leu) | Fanconi anemia [RCV002011204]|Fanconi anemia complementation group L [RCV005025630] | uncertain significance | 2 | 58232088 | 58232088 | Human | 2 | name |
| 151879853 | CV1412748 | single nucleotide variant | NM_018062.4(FANCL):c.241A>G (p.Met81Val) | Fanconi anemia [RCV001926286]|Fanconi anemia complementation group L [RCV002507589] | uncertain significance | 2 | 58226760 | 58226760 | Human | 2 | name |
| 151861984 | CV1420098 | single nucleotide variant | NM_018062.4(FANCL):c.191G>A (p.Ser64Asn) | Fanconi anemia [RCV001980235] | uncertain significance | 2 | 58229839 | 58229839 | Human | 1 | name |
| 151773286 | CV1427772 | single nucleotide variant | NM_018062.4(FANCL):c.208G>A (p.Val70Ile) | Fanconi anemia [RCV001915188] | uncertain significance | 2 | 58229822 | 58229822 | Human | 1 | name |
| 151823239 | CV1466255 | single nucleotide variant | NM_018062.4(FANCL):c.136T>A (p.Leu46Ile) | Fanconi anemia [RCV001879419] | uncertain significance | 2 | 58232073 | 58232073 | Human | 1 | name |
| 151735410 | CV1494295 | single nucleotide variant | NM_018062.4(FANCL):c.295C>A (p.Gln99Lys) | Fanconi anemia [RCV001984649] | uncertain significance | 2 | 58222021 | 58222021 | Human | 1 | name |
| 152142515 | CV1636442 | single nucleotide variant | NM_018062.4(FANCL):c.1033C>T (p.Leu345=) | Fanconi anemia [RCV002120571] | likely benign | 2 | 58160167 | 58160167 | Human | 1 | name |
| 155266546 | CV1699115 | single nucleotide variant | NM_018062.4(FANCL):c.223C>T (p.Gln75Ter) | Fanconi anemia [RCV002282910]|Fanconi anemia complementation group L [RCV003464431] | pathogenic|likely pathogenic | 2 | 58226778 | 58226778 | Human | 2 | name |
| 156390960 | CV1869930 | single nucleotide variant | NM_018062.4(FANCL):c.1080A>G (p.Pro360=) | Fanconi anemia [RCV003068014] | likely benign | 2 | 58160120 | 58160120 | Human | 1 | name |
| 156296786 | CV1923311 | deletion | NM_018062.4(FANCL):c.659del (p.Pro220fs) | Fanconi anemia [RCV002647442] | pathogenic | 2 | 58165756 | 58165756 | Human | 1 | name |
| 156295156 | CV1926725 | single nucleotide variant | NM_018062.4(FANCL):c.200A>G (p.His67Arg) | Fanconi anemia [RCV002628980] | uncertain significance | 2 | 58229830 | 58229830 | Human | 1 | name |
| 156379682 | CV1927433 | single nucleotide variant | NM_018062.4(FANCL):c.233C>G (p.Pro78Arg) | Fanconi anemia [RCV002634170] | uncertain significance | 2 | 58226768 | 58226768 | Human | 1 | name |
| 156310955 | CV1934244 | single nucleotide variant | NM_018062.4(FANCL):c.244A>C (p.Ser82Arg) | Fanconi anemia [RCV002629765] | uncertain significance | 2 | 58226757 | 58226757 | Human | 1 | name |
| 156095313 | CV2010553 | single nucleotide variant | NM_018062.4(FANCL):c.181A>G (p.Thr61Ala) | Fanconi anemia [RCV002695094] | uncertain significance | 2 | 58229849 | 58229849 | Human | 1 | name |
| 156371744 | CV2048465 | deletion | NM_018062.4(FANCL):c.320del (p.Pro107fs) | Fanconi anemia [RCV002814331] | pathogenic | 2 | 58221996 | 58221996 | Human | 1 | name |
| 10404683 | CV205672 | deletion | NM_018062.4(FANCL):c.430del (p.Ser144fs) | Fanconi anemia [RCV001857678]|Fanconi anemia complementation group L [RCV000191023]|VACTERL association, X-linked, with or without hydrocephalus [RCV001195065]|not provided [RCV001530171] | pathogenic|likely pathogenic | 2 | 58204171 | 58204171 | Human | 3 | name |
| 156025853 | CV2112527 | single nucleotide variant | NM_018062.4(FANCL):c.252G>A (p.Met84Ile) | Fanconi anemia [RCV002909834] | uncertain significance | 2 | 58226749 | 58226749 | Human | 1 | name |
| 156210294 | CV2114380 | single nucleotide variant | NM_018062.4(FANCL):c.259T>A (p.Leu87Met) | Fanconi anemia [RCV002932034] | uncertain significance | 2 | 58226742 | 58226742 | Human | 1 | name |
| 155960487 | CV2138329 | single nucleotide variant | NM_018062.4(FANCL):c.121G>A (p.Val41Met) | Fanconi anemia [RCV002972360] | uncertain significance | 2 | 58232088 | 58232088 | Human | 1 | name |
| 156190276 | CV2160808 | single nucleotide variant | NM_018062.4(FANCL):c.163T>A (p.Cys55Ser) | Fanconi anemia [RCV003024107] | uncertain significance | 2 | 58229867 | 58229867 | Human | 1 | name |
| 156211043 | CV2170849 | single nucleotide variant | NM_018062.4(FANCL):c.159A>C (p.Leu53Phe) | Fanconi anemia [RCV003042332] | uncertain significance | 2 | 58229871 | 58229871 | Human | 1 | name |
| 10767933 | CV221315 | single nucleotide variant | NM_018062.4(FANCL):c.1077T>C (p.Cys359=) | Fanconi anemia [RCV000205562]|Fanconi anemia complementation group L [RCV001139586]|not provided [RCV001574127] | benign|likely benign | 2 | 58160123 | 58160123 | Human | 2 | name |
| 10768358 | CV221319 | single nucleotide variant | NM_018062.4(FANCL):c.112C>T (p.Leu38Phe) | FANCL-related disorder [RCV003937791]|Fanconi anemia [RCV001082870]|Fanconi anemia complementation group L [RCV001137465]|not provided [RCV000515051]|not specified [RCV000420428] | benign|likely benign|conflicting interpretations of pathogenicity | 2 | 58232097 | 58232097 | Human | 2 | name , trait , alternate_id |
| 401927330 | CV2796948 | duplication | NM_018062.4(FANCL):c.809dup (p.Asn270fs) | FANCL-related disorder [RCV003406179] | likely pathogenic | 2 | 58163040 | 58163041 | Human | | name , trait , alternate_id |
| 401941238 | CV2835784 | duplication | NM_018062.4(FANCL):c.738dup (p.Met247fs) | Fanconi anemia complementation group L [RCV003461554] | likely pathogenic | 2 | 58163470 | 58163471 | Human | 1 | name |
| 401941239 | CV2835785 | deletion | NM_018062.4(FANCL):c.590del (p.Leu197fs) | Fanconi anemia complementation group L [RCV003461555] | likely pathogenic | 2 | 58165825 | 58165825 | Human | 1 | name |
| 401942587 | CV2835786 | single nucleotide variant | NM_018062.4(FANCL):c.158T>G (p.Leu53Ter) | Fanconi anemia complementation group L [RCV003468185] | likely pathogenic | 2 | 58229872 | 58229872 | Human | 1 | name |
| 405072759 | CV2865907 | deletion | NM_018062.4(FANCL):c.472del (p.Tyr158fs) | Fanconi anemia [RCV003523967] | pathogenic | 2 | 58198662 | 58198662 | Human | 1 | name |
| 405076367 | CV2874248 | single nucleotide variant | NM_018062.4(FANCL):c.105C>A (p.Asp35Glu) | Fanconi anemia [RCV003524185] | uncertain significance | 2 | 58232104 | 58232104 | Human | 1 | name |
| 405065876 | CV2899675 | single nucleotide variant | NM_018062.4(FANCL):c.1014A>G (p.Leu338=) | Fanconi anemia [RCV003523490] | likely benign | 2 | 58161528 | 58161528 | Human | 1 | name |
| 405059637 | CV2923874 | single nucleotide variant | NM_018062.4(FANCL):c.287A>G (p.Lys96Arg) | Fanconi anemia [RCV003522833] | uncertain significance | 2 | 58222029 | 58222029 | Human | 1 | name |
| 405058188 | CV2926196 | single nucleotide variant | NM_018062.4(FANCL):c.229T>C (p.Ser77Pro) | Fanconi anemia [RCV003522640] | uncertain significance | 2 | 58226772 | 58226772 | Human | 1 | name |
| 405163770 | CV3004421 | deletion | NM_018062.4(FANCL):c.682del (p.Ile228fs) | Fanconi anemia [RCV003637863] | pathogenic | 2 | 58165733 | 58165733 | Human | 1 | name |
| 405148065 | CV3059851 | deletion | NM_018062.4(FANCL):c.378del (p.Val127fs) | Fanconi anemia [RCV003636561]|Fanconi anemia complementation group L [RCV004573265] | pathogenic|likely pathogenic | 2 | 58204223 | 58204223 | Human | 2 | name |
| 405151754 | CV3073348 | single nucleotide variant | NM_018062.4(FANCL):c.1017T>C (p.Tyr339=) | Fanconi anemia [RCV003636881] | likely benign | 2 | 58161525 | 58161525 | Human | 1 | name |
| 405158923 | CV3076463 | single nucleotide variant | NM_018062.4(FANCL):c.136T>G (p.Leu46Val) | Fanconi anemia [RCV003637453] | uncertain significance | 2 | 58232073 | 58232073 | Human | 1 | name |
| 405868761 | CV3400592 | deletion | NM_018062.4(FANCL):c.442del (p.His148fs) | Fanconi anemia complementation group L [RCV004576595] | likely pathogenic | 2 | 58204159 | 58204159 | Human | 1 | name |
| 596945920 | CV3550297 | duplication | NM_018062.4(FANCL):c.900dup (p.Ser301fs) | Fanconi anemia complementation group L [RCV004818836] | likely pathogenic | 2 | 58162868 | 58162869 | Human | 1 | name |
| 597661910 | CV3671925 | single nucleotide variant | NM_018062.4(FANCL):c.225G>T (p.Gln75His) | Inborn genetic diseases [RCV004977681] | uncertain significance | 2 | 58226776 | 58226776 | Human | 1 | name |
| 597649257 | CV3713559 | deletion | NM_018062.4(FANCL):c.901del (p.Ser301fs) | Fanconi anemia complementation group L [RCV005026653] | likely pathogenic | 2 | 58162868 | 58162868 | Human | 1 | name |
| 597649349 | CV3713577 | single nucleotide variant | NM_018062.4(FANCL):c.284T>A (p.Leu95Ter) | Fanconi anemia complementation group L [RCV005026664] | likely pathogenic | 2 | 58222032 | 58222032 | Human | 1 | name |
| 597689437 | CV3713580 | single nucleotide variant | NM_018062.4(FANCL):c.139C>T (p.Gln47Ter) | Fanconi anemia complementation group L [RCV005032367] | likely pathogenic | 2 | 58232070 | 58232070 | Human | 1 | name |
| 597689449 | CV3713581 | single nucleotide variant | NM_018062.4(FANCL):c.119T>A (p.Ile40Lys) | Fanconi anemia complementation group L [RCV005032368] | uncertain significance | 2 | 58232090 | 58232090 | Human | 1 | name |
| 597927496 | CV3749021 | single nucleotide variant | NM_018062.4(FANCL):c.1101C>T (p.Thr367=) | Fanconi anemia [RCV005075477] | likely benign | 2 | 58159792 | 58159792 | Human | 1 | name |
| 597959582 | CV3797585 | single nucleotide variant | NM_018062.4(FANCL):c.104A>G (p.Asp35Gly) | Fanconi anemia [RCV005138272] | uncertain significance | 2 | 58232105 | 58232105 | Human | 1 | name |
| 597835673 | CV3828268 | single nucleotide variant | NM_018062.4(FANCL):c.1041T>C (p.Thr347=) | Fanconi anemia [RCV005171160] | likely benign | 2 | 58160159 | 58160159 | Human | 1 | name |
| 597888785 | CV3859557 | single nucleotide variant | NM_018062.4(FANCL):c.193G>A (p.Gly65Arg) | Fanconi anemia [RCV005200213] | uncertain significance | 2 | 58229837 | 58229837 | Human | 1 | name |
| 12883097 | CV393059 | single nucleotide variant | NM_018062.4(FANCL):c.288G>T (p.Lys96Asn) | Fanconi anemia [RCV000460926]|Fanconi anemia complementation group L [RCV002506121] | uncertain significance | 2 | 58222028 | 58222028 | Human | 2 | name |
| 12886713 | CV393060 | single nucleotide variant | NM_018062.4(FANCL):c.238C>G (p.Leu80Val) | Fanconi anemia [RCV000467748]|Fanconi anemia complementation group L [RCV001137463]|See cases [RCV002252132]|not specified [RCV001821269] | uncertain significance | 2 | 58226763 | 58226763 | Human | 2 | name |
| 12883321 | CV393432 | single nucleotide variant | NM_018062.4(FANCL):c.108C>G (p.Phe36Leu) | FANCL-related disorder [RCV003970326]|Fanconi anemia [RCV000461386]|Fanconi anemia complementation group L [RCV001137466]|not provided [RCV003409644]|not specified [RCV000503224] | benign|likely benign | 2 | 58232101 | 58232101 | Human | 2 | name , trait , alternate_id |
| 598195587 | CV3955193 | single nucleotide variant | NM_018062.4(FANCL):c.222G>A (p.Met74Ile) | Inborn genetic diseases [RCV005335605] | uncertain significance | 2 | 58226779 | 58226779 | Human | 1 | name |
| 13216757 | CV428081 | single nucleotide variant | NM_018062.4(FANCL):c.235G>A (p.Asp79Asn) | not specified [RCV000504156] | uncertain significance | 2 | 58226766 | 58226766 | Human | | name |
| 13446221 | CV438138 | single nucleotide variant | NM_018062.4(FANCL):c.245G>A (p.Ser82Asn) | not provided [RCV000513436] | uncertain significance | 2 | 58226756 | 58226756 | Human | | name |
| 13484396 | CV451729 | single nucleotide variant | NM_018062.4(FANCL):c.203G>C (p.Arg68Pro) | FANCL-related disorder [RCV003925582]|Fanconi anemia [RCV000552744]|Fanconi anemia complementation group L [RCV001137464]|not specified [RCV001821482] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 2 | 58229827 | 58229827 | Human | 2 | name , trait , alternate_id |
| 13464948 | CV451731 | single nucleotide variant | NM_018062.4(FANCL):c.142C>G (p.Leu48Val) | FANCL-related disorder [RCV004752936]|Fanconi anemia [RCV000542534]|Fanconi anemia complementation group L [RCV002483357] | uncertain significance | 2 | 58232067 | 58232067 | Human | 2 | name , trait , alternate_id |
| 13612792 | CV518505 | single nucleotide variant | NM_018062.4(FANCL):c.211C>T (p.Gln71Ter) | Fanconi anemia [RCV000630868] | pathogenic | 2 | 58229819 | 58229819 | Human | 1 | name |
| 13613048 | CV518579 | single nucleotide variant | NM_018062.4(FANCL):c.182C>G (p.Thr61Arg) | Fanconi anemia [RCV000630949] | uncertain significance | 2 | 58229848 | 58229848 | Human | 1 | name |
| 14735920 | CV630404 | single nucleotide variant | NM_018062.4(FANCL):c.246C>G (p.Ser82Arg) | Fanconi anemia [RCV000803392]|Fanconi anemia complementation group L [RCV002477841] | uncertain significance | 2 | 58226755 | 58226755 | Human | 2 | name |
| 14726770 | CV630405 | single nucleotide variant | NM_018062.4(FANCL):c.134A>T (p.Asp45Val) | Fanconi anemia [RCV000815780] | uncertain significance | 2 | 58232075 | 58232075 | Human | 1 | name |
| 21405324 | CV799094 | duplication | NM_018062.4(FANCL):c.739dup (p.Met247fs) | Fanconi anemia complementation group L [RCV001000102]|not provided [RCV001195066] | pathogenic|likely pathogenic | 2 | 58163469 | 58163470 | Human | 1 | name |
| 34889448 | CV918140 | single nucleotide variant | NM_018062.4(FANCL):c.1092G>A (p.Lys364=) | Fanconi anemia [RCV001381353]|Fanconi anemia complementation group L [RCV001195068] | pathogenic | 2 | 58160108 | 58160108 | Human | 2 | name |
| 38491340 | CV922889 | single nucleotide variant | NM_018062.4(FANCL):c.267G>T (p.Met89Ile) | Fanconi anemia [RCV001222772] | uncertain significance | 2 | 58226734 | 58226734 | Human | 1 | name |
| 38476505 | CV943053 | single nucleotide variant | NM_018062.4(FANCL):c.226C>T (p.His76Tyr) | Fanconi anemia [RCV001233113] | uncertain significance | 2 | 58226775 | 58226775 | Human | 1 | name |
| 126735992 | CV1019673 | single nucleotide variant | NM_018062.4(FANCL):c.992A>C (p.Gln331Pro) | Fanconi anemia complementation group L [RCV001334976] | uncertain significance | 2 | 58161550 | 58161550 | Human | 1 | name |
| 126751273 | CV1024648 | single nucleotide variant | NM_018062.4(FANCL):c.902C>G (p.Ser301Cys) | Fanconi anemia [RCV001352407]|Fanconi anemia complementation group L [RCV005038114] | uncertain significance | 2 | 58162867 | 58162867 | Human | 2 | name |
| 126753053 | CV1024649 | single nucleotide variant | NM_018062.4(FANCL):c.842T>C (p.Leu281Ser) | Fanconi anemia [RCV001338533]|Fanconi anemia complementation group L [RCV002486353] | uncertain significance | 2 | 58162927 | 58162927 | Human | 2 | name |
| 126763668 | CV1024651 | single nucleotide variant | NM_018062.4(FANCL):c.608T>C (p.Val203Ala) | Fanconi anemia [RCV001341368] | uncertain significance | 2 | 58165807 | 58165807 | Human | 1 | name |
| 126764971 | CV1024652 | single nucleotide variant | NM_018062.4(FANCL):c.556A>G (p.Ile186Val) | Fanconi anemia [RCV001341856]|Fanconi anemia complementation group L [RCV005023064] | uncertain significance | 2 | 58165859 | 58165859 | Human | 2 | name |
| 126770462 | CV1024653 | single nucleotide variant | NM_018062.4(FANCL):c.500T>C (p.Val167Ala) | Fanconi anemia [RCV001344488]|Fanconi anemia complementation group L [RCV001831107] | uncertain significance | 2 | 58198634 | 58198634 | Human | 2 | name |
| 126770261 | CV1024654 | single nucleotide variant | NM_018062.4(FANCL):c.408C>G (p.Ile136Met) | Fanconi anemia [RCV001344377] | uncertain significance | 2 | 58204193 | 58204193 | Human | 1 | name |
| 126761467 | CV1024655 | single nucleotide variant | NM_018062.4(FANCL):c.317C>T (p.Pro106Leu) | Fanconi anemia [RCV001340698] | uncertain significance | 2 | 58221999 | 58221999 | Human | 1 | name |
| 126914048 | CV1041621 | single nucleotide variant | NM_018062.4(FANCL):c.339C>A (p.Ser113Arg) | Fanconi anemia [RCV001370331] | uncertain significance | 2 | 58221977 | 58221977 | Human | 1 | name |
| 150473800 | CV1272230 | deletion | NM_018062.4(FANCL):c.375-2103_375-2100del | not provided [RCV001695768] | benign | 2 | 58206326 | 58206329 | Human | | name |
| 150543582 | CV1309576 | single nucleotide variant | NM_018062.4(FANCL):c.641T>C (p.Leu214Pro) | Fanconi anemia complementation group L [RCV003388043]|not provided [RCV003238622] | likely benign|uncertain significance | 2 | 58165774 | 58165774 | Human | 1 | name |
| 150543584 | CV1309577 | single nucleotide variant | NM_018062.4(FANCL):c.565C>T (p.Gln189Ter) | Fanconi anemia [RCV003635972]|not provided [RCV003238623] | pathogenic | 2 | 58165850 | 58165850 | Human | 1 | name |
| 151232509 | CV1316815 | single nucleotide variant | NM_018062.4(FANCL):c.554G>C (p.Ser185Thr) | Fanconi anemia [RCV001868880]|not provided [RCV001786635] | uncertain significance | 2 | 58165861 | 58165861 | Human | 1 | name |
| 151354793 | CV1327860 | single nucleotide variant | NM_018062.4(FANCL):c.392C>T (p.Thr131Ile) | Fanconi anemia [RCV001869685]|Fanconi anemia complementation group L [RCV002489874]|not specified [RCV001819335] | uncertain significance | 2 | 58204209 | 58204209 | Human | 2 | name |
| 151356039 | CV1328803 | single nucleotide variant | NM_018062.4(FANCL):c.824A>T (p.Asp275Val) | not specified [RCV001822392] | uncertain significance | 2 | 58162945 | 58162945 | Human | | name |
| 151841195 | CV1342340 | single nucleotide variant | NM_018062.4(FANCL):c.911C>T (p.Thr304Ile) | Fanconi anemia [RCV001956769] | uncertain significance | 2 | 58161631 | 58161631 | Human | 1 | name |
| 151760049 | CV1343158 | single nucleotide variant | NM_018062.4(FANCL):c.742C>T (p.Leu248Phe) | Fanconi anemia [RCV002024254]|Fanconi anemia complementation group L [RCV005032127] | uncertain significance | 2 | 58163467 | 58163467 | Human | 2 | name |
| 151761537 | CV1349758 | single nucleotide variant | NM_018062.4(FANCL):c.671C>A (p.Thr224Lys) | Fanconi anemia [RCV001949201] | uncertain significance | 2 | 58165744 | 58165744 | Human | 1 | name |
| 151709876 | CV1361068 | single nucleotide variant | NM_018062.4(FANCL):c.754T>C (p.Phe252Leu) | Fanconi anemia [RCV001889144] | uncertain significance | 2 | 58163455 | 58163455 | Human | 1 | name |
| 151886016 | CV1367193 | single nucleotide variant | NM_018062.4(FANCL):c.814C>G (p.His272Asp) | Fanconi anemia [RCV002000600] | uncertain significance | 2 | 58163036 | 58163036 | Human | 1 | name |
| 151747977 | CV1367479 | single nucleotide variant | NM_018062.4(FANCL):c.386C>T (p.Ala129Val) | Fanconi anemia [RCV001894012] | uncertain significance | 2 | 58204215 | 58204215 | Human | 1 | name |
| 151747575 | CV1371567 | single nucleotide variant | NM_018062.4(FANCL):c.608T>G (p.Val203Gly) | Fanconi anemia [RCV001947776] | uncertain significance | 2 | 58165807 | 58165807 | Human | 1 | name |
| 151852545 | CV1376094 | single nucleotide variant | NM_018062.4(FANCL):c.883C>T (p.Arg295Cys) | Fanconi anemia [RCV001996149] | uncertain significance | 2 | 58162886 | 58162886 | Human | 1 | name |
| 151875572 | CV1376201 | single nucleotide variant | NM_018062.4(FANCL):c.923G>A (p.Gly308Glu) | Fanconi anemia [RCV002019494] | uncertain significance | 2 | 58161619 | 58161619 | Human | 1 | name |
| 151802626 | CV1378964 | single nucleotide variant | NM_018062.4(FANCL):c.494A>G (p.Tyr165Cys) | Fanconi anemia [RCV001877510] | uncertain significance | 2 | 58198640 | 58198640 | Human | 1 | name |
| 151776621 | CV1381648 | single nucleotide variant | NM_018062.4(FANCL):c.611T>C (p.Met204Thr) | Fanconi anemia [RCV001950672]|Fanconi anemia complementation group L [RCV002484716] | uncertain significance | 2 | 58165804 | 58165804 | Human | 2 | name |
| 151667704 | CV1385008 | single nucleotide variant | NM_018062.4(FANCL):c.934G>T (p.Ala312Ser) | Fanconi anemia [RCV001982653] | uncertain significance | 2 | 58161608 | 58161608 | Human | 1 | name |
| 151737079 | CV1388075 | single nucleotide variant | NM_018062.4(FANCL):c.737C>T (p.Thr246Ile) | Fanconi anemia [RCV002005422] | uncertain significance | 2 | 58163472 | 58163472 | Human | 1 | name |
| 151745420 | CV1401042 | single nucleotide variant | NM_018062.4(FANCL):c.810C>A (p.Asn270Lys) | Fanconi anemia [RCV002022763] | uncertain significance | 2 | 58163040 | 58163040 | Human | 1 | name |
| 151780165 | CV1408418 | single nucleotide variant | NM_018062.4(FANCL):c.428C>G (p.Ala143Gly) | Fanconi anemia [RCV001915802] | uncertain significance | 2 | 58204173 | 58204173 | Human | 1 | name |
| 151834962 | CV1408526 | single nucleotide variant | NM_018062.4(FANCL):c.845A>G (p.Gln282Arg) | Fanconi anemia [RCV001935451]|Fanconi anemia complementation group L [RCV002507016] | uncertain significance | 2 | 58162924 | 58162924 | Human | 2 | name |
| 151822789 | CV1415067 | single nucleotide variant | NM_018062.4(FANCL):c.703T>C (p.Ser235Pro) | Fanconi anemia [RCV001954927]|Inborn genetic diseases [RCV003264279] | uncertain significance | 2 | 58163506 | 58163506 | Human | 2 | name |
| 151873666 | CV1429880 | single nucleotide variant | NM_018062.4(FANCL):c.719T>C (p.Val240Ala) | Fanconi anemia [RCV001998668] | uncertain significance | 2 | 58163490 | 58163490 | Human | 1 | name |
| 151750611 | CV1430487 | single nucleotide variant | NM_018062.4(FANCL):c.598T>A (p.Phe200Ile) | Fanconi anemia [RCV002006826] | uncertain significance | 2 | 58165817 | 58165817 | Human | 1 | name |
| 151846980 | CV1439582 | single nucleotide variant | NM_018062.4(FANCL):c.550A>G (p.Ile184Val) | Fanconi anemia [RCV002016054] | uncertain significance | 2 | 58165865 | 58165865 | Human | 1 | name |
| 151726737 | CV1445734 | single nucleotide variant | NM_018062.4(FANCL):c.365G>T (p.Gly122Val) | Fanconi anemia [RCV002040776] | uncertain significance | 2 | 58221951 | 58221951 | Human | 1 | name |
| 151770620 | CV1464983 | single nucleotide variant | NM_018062.4(FANCL):c.760C>T (p.Leu254Phe) | Fanconi anemia [RCV002025322] | uncertain significance | 2 | 58163449 | 58163449 | Human | 1 | name |
| 151736132 | CV1465944 | single nucleotide variant | NM_018062.4(FANCL):c.967G>A (p.Val323Met) | Fanconi anemia [RCV002041734] | uncertain significance | 2 | 58161575 | 58161575 | Human | 1 | name |
| 151791606 | CV1486250 | single nucleotide variant | NM_018062.4(FANCL):c.971G>C (p.Cys324Ser) | Fanconi anemia [RCV002047163] | uncertain significance | 2 | 58161571 | 58161571 | Human | 1 | name |
| 151730739 | CV1489566 | single nucleotide variant | NM_018062.4(FANCL):c.763G>A (p.Gly255Arg) | Fanconi anemia [RCV001910845] | uncertain significance | 2 | 58163446 | 58163446 | Human | 1 | name |
| 151867513 | CV1493619 | single nucleotide variant | NM_018062.4(FANCL):c.308C>A (p.Ala103Glu) | Fanconi anemia [RCV001960007]|Fanconi anemia complementation group L [RCV002484643] | uncertain significance | 2 | 58222008 | 58222008 | Human | 2 | name |
| 151881663 | CV1500050 | single nucleotide variant | NM_018062.4(FANCL):c.913A>T (p.Met305Leu) | Fanconi anemia [RCV001886580]|Fanconi anemia complementation group L [RCV002503471]|not provided [RCV004693858] | uncertain significance | 2 | 58161629 | 58161629 | Human | 2 | name |
| 151720813 | CV1504396 | single nucleotide variant | NM_018062.4(FANCL):c.933T>A (p.Tyr311Ter) | Fanconi anemia [RCV001983048] | pathogenic | 2 | 58161609 | 58161609 | Human | 1 | name |
| 151743378 | CV1507563 | single nucleotide variant | NM_018062.4(FANCL):c.662G>T (p.Arg221Leu) | Fanconi anemia [RCV001968368] | uncertain significance | 2 | 58165753 | 58165753 | Human | 1 | name |
| 151753393 | CV1508667 | single nucleotide variant | NM_018062.4(FANCL):c.372T>A (p.Asp124Glu) | Fanconi anemia [RCV001986520] | uncertain significance | 2 | 58221944 | 58221944 | Human | 1 | name |
| 151788098 | CV1510167 | single nucleotide variant | NM_018062.4(FANCL):c.308C>T (p.Ala103Val) | Fanconi anemia [RCV001916541] | uncertain significance | 2 | 58222008 | 58222008 | Human | 1 | name |
| 151860940 | CV1511056 | single nucleotide variant | NM_018062.4(FANCL):c.430T>A (p.Ser144Thr) | Fanconi anemia [RCV001959217] | uncertain significance | 2 | 58204171 | 58204171 | Human | 1 | name |
| 151790106 | CV1512817 | single nucleotide variant | NM_018062.4(FANCL):c.428C>T (p.Ala143Val) | Fanconi anemia [RCV001876431]|Fanconi anemia complementation group L [RCV002506886]|Inborn genetic diseases [RCV003247055] | uncertain significance | 2 | 58204173 | 58204173 | Human | 3 | name |
| 151785669 | CV1513433 | single nucleotide variant | NM_018062.4(FANCL):c.350A>C (p.Glu117Ala) | Fanconi anemia [RCV001916293] | uncertain significance | 2 | 58221966 | 58221966 | Human | 1 | name |
| 151889785 | CV1516403 | single nucleotide variant | NM_018062.4(FANCL):c.354A>G (p.Ile118Met) | Fanconi anemia [RCV002038670] | uncertain significance | 2 | 58221962 | 58221962 | Human | 1 | name |
| 151811486 | CV1516875 | single nucleotide variant | NM_018062.4(FANCL):c.578C>T (p.Ala193Val) | Fanconi anemia [RCV002012481] | uncertain significance | 2 | 58165837 | 58165837 | Human | 1 | name |
| 153002432 | CV1684330 | single nucleotide variant | NM_018062.4(FANCL):c.478G>A (p.Ala160Thr) | Fanconi anemia [RCV002259174] | uncertain significance | 2 | 58198656 | 58198656 | Human | 1 | name |
| 153001507 | CV1684332 | single nucleotide variant | NM_018062.4(FANCL):c.637G>C (p.Val213Leu) | Fanconi anemia [RCV002256969]|Inborn genetic diseases [RCV003101400] | uncertain significance | 2 | 58165778 | 58165778 | Human | 2 | name |
| 153001078 | CV1684333 | single nucleotide variant | NM_018062.4(FANCL):c.640C>T (p.Leu214Phe) | Fanconi anemia [RCV002255791]|Fanconi anemia complementation group L [RCV002502062] | uncertain significance | 2 | 58165775 | 58165775 | Human | 2 | name |
| 155749008 | CV1779060 | single nucleotide variant | NM_018062.4(FANCL):c.677G>T (p.Arg226Leu) | Fanconi anemia [RCV002304158] | uncertain significance | 2 | 58165738 | 58165738 | Human | 1 | name |
| 156321088 | CV1873112 | single nucleotide variant | NM_018062.4(FANCL):c.614A>G (p.Asp205Gly) | Fanconi anemia [RCV003063070] | uncertain significance | 2 | 58165801 | 58165801 | Human | 1 | name |
| 156411027 | CV1892858 | single nucleotide variant | NM_018062.4(FANCL):c.439G>A (p.Glu147Lys) | Fanconi anemia [RCV003072304] | uncertain significance | 2 | 58204162 | 58204162 | Human | 1 | name |
| 156405407 | CV1893817 | single nucleotide variant | NM_018062.4(FANCL):c.361C>T (p.Leu121Phe) | Fanconi anemia [RCV003070013] | uncertain significance | 2 | 58221955 | 58221955 | Human | 1 | name |
| 156317755 | CV1897587 | single nucleotide variant | NM_018062.4(FANCL):c.676C>T (p.Arg226Cys) | Fanconi anemia [RCV002579050] | uncertain significance | 2 | 58165739 | 58165739 | Human | 1 | name |
| 156413877 | CV1901130 | single nucleotide variant | NM_018062.4(FANCL):c.984G>T (p.Gln328His) | Fanconi anemia [RCV002588305] | uncertain significance | 2 | 58161558 | 58161558 | Human | 1 | name |
| 156076135 | CV1912405 | single nucleotide variant | NM_018062.4(FANCL):c.914T>C (p.Met305Thr) | Fanconi anemia [RCV002591424] | uncertain significance | 2 | 58161628 | 58161628 | Human | 1 | name |
| 156446158 | CV1951192 | single nucleotide variant | NM_018062.4(FANCL):c.369G>A (p.Trp123Ter) | Fanconi anemia [RCV003117124] | pathogenic | 2 | 58221947 | 58221947 | Human | 1 | name |
| 156145905 | CV1954275 | single nucleotide variant | NM_018062.4(FANCL):c.680G>C (p.Arg227Thr) | Fanconi anemia [RCV002572739]|Fanconi anemia complementation group L [RCV005032308]|Inborn genetic diseases [RCV005343425] | uncertain significance | 2 | 58165735 | 58165735 | Human | 3 | name |
| 156024001 | CV2025587 | single nucleotide variant | NM_018062.4(FANCL):c.476C>T (p.Pro159Leu) | Fanconi anemia [RCV002735508]|Fanconi anemia complementation group L [RCV005027933] | uncertain significance | 2 | 58198658 | 58198658 | Human | 2 | name |
| 156348194 | CV2052050 | single nucleotide variant | NM_018062.4(FANCL):c.750G>C (p.Glu250Asp) | Fanconi anemia [RCV002811586] | uncertain significance | 2 | 58163459 | 58163459 | Human | 1 | name |
| 156075975 | CV2053375 | single nucleotide variant | NM_018062.4(FANCL):c.454C>T (p.Leu152Phe) | Fanconi anemia [RCV002823698] | uncertain significance | 2 | 58204147 | 58204147 | Human | 1 | name |
| 155941824 | CV2068248 | single nucleotide variant | NM_018062.4(FANCL):c.869T>C (p.Ile290Thr) | Fanconi anemia [RCV002839460] | uncertain significance | 2 | 58162900 | 58162900 | Human | 1 | name |
| 156058004 | CV2102160 | single nucleotide variant | NM_018062.4(FANCL):c.659C>T (p.Pro220Leu) | Fanconi anemia [RCV002886400] | uncertain significance | 2 | 58165756 | 58165756 | Human | 1 | name |
| 156167535 | CV2102307 | single nucleotide variant | NM_018062.4(FANCL):c.902C>A (p.Ser301Tyr) | Fanconi anemia [RCV002891222] | uncertain significance | 2 | 58162867 | 58162867 | Human | 1 | name |
| 10405659 | CV212271 | single nucleotide variant | NM_018062.4(FANCL):c.884G>A (p.Arg295His) | Fanconi anemia [RCV000196730]|Fanconi anemia complementation group L [RCV002492918] | uncertain significance | 2 | 58162885 | 58162885 | Human | 2 | name |
| 156123946 | CV2124797 | single nucleotide variant | NM_018062.4(FANCL):c.526T>G (p.Ser176Ala) | Fanconi anemia [RCV002953609] | uncertain significance | 2 | 58198608 | 58198608 | Human | 1 | name |
| 156270106 | CV2135263 | single nucleotide variant | NM_018062.4(FANCL):c.614A>C (p.Asp205Ala) | Fanconi anemia [RCV002988791]|Inborn genetic diseases [RCV005343563] | uncertain significance | 2 | 58165801 | 58165801 | Human | 2 | name |
| 156032876 | CV2156559 | single nucleotide variant | NM_018062.4(FANCL):c.908T>G (p.Phe303Cys) | Fanconi anemia [RCV003018748] | uncertain significance | 2 | 58161634 | 58161634 | Human | 1 | name |
| 156204963 | CV2160044 | duplication | NM_018062.4(FANCL):c.1049dup (p.Ser351fs) | Fanconi anemia [RCV003042113] | likely pathogenic | 2 | 58160150 | 58160151 | Human | 1 | name |
| 156342880 | CV2176030 | single nucleotide variant | NM_018062.4(FANCL):c.803G>A (p.Ser268Asn) | Fanconi anemia [RCV003030381] | uncertain significance | 2 | 58163047 | 58163047 | Human | 1 | name |
| 10767709 | CV221316 | single nucleotide variant | NM_018062.4(FANCL):c.755T>G (p.Phe252Cys) | FANCL-related disorder [RCV003937785]|Fanconi anemia [RCV000205182]|Fanconi anemia complementation group L [RCV001094694]|not specified [RCV000504132] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 2 | 58163454 | 58163454 | Human | 2 | name , trait , alternate_id |
| 10768035 | CV221317 | single nucleotide variant | NM_018062.4(FANCL):c.706A>G (p.Ile236Val) | Fanconi anemia [RCV000205732]|Fanconi anemia complementation group L [RCV002485339]|Inborn genetic diseases [RCV004020509] | uncertain significance | 2 | 58163503 | 58163503 | Human | 3 | name |
| 156182510 | CV2243064 | single nucleotide variant | NM_018062.4(FANCL):c.731A>G (p.His244Arg) | Inborn genetic diseases [RCV002802366] | uncertain significance | 2 | 58163478 | 58163478 | Human | 1 | name |
| 156299560 | CV2244769 | single nucleotide variant | NM_018062.4(FANCL):c.473A>G (p.Tyr158Cys) | Inborn genetic diseases [RCV002748422] | uncertain significance | 2 | 58198661 | 58198661 | Human | 1 | name |
| 156118532 | CV2279064 | single nucleotide variant | NM_018062.4(FANCL):c.867A>C (p.Glu289Asp) | Inborn genetic diseases [RCV002848907] | uncertain significance | 2 | 58162902 | 58162902 | Human | 1 | name |
| 155956597 | CV2304054 | single nucleotide variant | NM_018062.4(FANCL):c.700G>C (p.Val234Leu) | Inborn genetic diseases [RCV002905619] | uncertain significance | 2 | 58163509 | 58163509 | Human | 1 | name |
| 155969389 | CV2309064 | single nucleotide variant | NM_018062.4(FANCL):c.950G>T (p.Gly317Val) | Inborn genetic diseases [RCV002906786] | uncertain significance | 2 | 58161592 | 58161592 | Human | 1 | name |
| 156123242 | CV2350005 | single nucleotide variant | NM_018062.4(FANCL):c.980C>T (p.Ser327Phe) | Fanconi anemia complementation group L [RCV005036607]|Inborn genetic diseases [RCV002981368] | uncertain significance | 2 | 58161562 | 58161562 | Human | 2 | name |
| 11350059 | CV238965 | single nucleotide variant | NM_018062.4(FANCL):c.963T>A (p.Asp321Glu) | FANCL-related disorder [RCV003955361]|Fanconi anemia [RCV000233098]|Fanconi anemia complementation group L [RCV003316291]|not specified [RCV001820756] | benign|likely benign|uncertain significance | 2 | 58161579 | 58161579 | Human | 2 | name , trait , alternate_id |
| 11349103 | CV238966 | single nucleotide variant | NM_018062.4(FANCL):c.670A>G (p.Thr224Ala) | Fanconi anemia [RCV000229244]|Fanconi anemia complementation group L [RCV001094732]|not provided [RCV000515081]|not specified [RCV000502532] | benign|likely benign|conflicting interpretations of pathogenicity | 2 | 58165745 | 58165745 | Human | 2 | name |
| 243058932 | CV2410007 | single nucleotide variant | NM_018062.4(FANCL):c.730C>T (p.His244Tyr) | Fanconi anemia complementation group L [RCV003147181] | uncertain significance | 2 | 58163479 | 58163479 | Human | 1 | name |
| 401926947 | CV2796787 | single nucleotide variant | NM_018062.4(FANCL):c.451A>C (p.Thr151Pro) | FANCL-related disorder [RCV003406110] | uncertain significance | 2 | 58204150 | 58204150 | Human | | name , trait , alternate_id |
| 401912039 | CV2815815 | deletion | NM_018062.4(FANCL):c.1108del (p.Met370fs) | not provided [RCV003426979] | uncertain significance | 2 | 58159785 | 58159785 | Human | | name |
| 401941235 | CV2835781 | single nucleotide variant | NM_018062.4(FANCL):c.822G>A (p.Trp274Ter) | Fanconi anemia [RCV003636035]|Fanconi anemia complementation group L [RCV003461551] | pathogenic|likely pathogenic | 2 | 58162947 | 58162947 | Human | 2 | name |
| 401941241 | CV2835788 | single nucleotide variant | NM_018062.4(FANCL):c.335C>G (p.Ser112Ter) | Fanconi anemia complementation group L [RCV003461557] | likely pathogenic | 2 | 58221981 | 58221981 | Human | 1 | name |
| 401941242 | CV2835789 | single nucleotide variant | NM_018062.4(FANCL):c.964C>T (p.Gln322Ter) | Fanconi anemia complementation group L [RCV003461558] | likely pathogenic | 2 | 58161578 | 58161578 | Human | 1 | name |
| 401941243 | CV2835790 | duplication | NM_018062.4(FANCL):c.1029dup (p.Gly344fs) | Fanconi anemia [RCV005100166]|Fanconi anemia complementation group L [RCV003461559] | pathogenic|likely pathogenic | 2 | 58160170 | 58160171 | Human | 2 | name |
| 401942599 | CV2835793 | deletion | NM_018062.4(FANCL):c.1007del (p.Ile336fs) | Fanconi anemia complementation group L [RCV003468188] | likely pathogenic | 2 | 58161535 | 58161535 | Human | 1 | name |
| 401942607 | CV2835800 | single nucleotide variant | NM_018062.4(FANCL):c.636G>A (p.Trp212Ter) | Fanconi anemia [RCV003636038]|Fanconi anemia complementation group L [RCV003468190] | pathogenic|likely pathogenic | 2 | 58165779 | 58165779 | Human | 2 | name |
| 405074613 | CV2863066 | single nucleotide variant | NM_018062.4(FANCL):c.965A>G (p.Gln322Arg) | Fanconi anemia [RCV003524071] | uncertain significance | 2 | 58161577 | 58161577 | Human | 1 | name |
| 405078568 | CV2868684 | single nucleotide variant | NM_018062.4(FANCL):c.626A>G (p.Glu209Gly) | Fanconi anemia [RCV003524363] | uncertain significance | 2 | 58165789 | 58165789 | Human | 1 | name |
| 11635715 | CV287622 | duplication | NM_018062.4(FANCL):c.932dup (p.Tyr311Ter) | Fanconi anemia [RCV003635910]|Fanconi anemia complementation group L [RCV000387483]|not provided [RCV004721335] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 2 | 58161609 | 58161610 | Human | 2 | name |
| 405051549 | CV2879777 | single nucleotide variant | NM_018062.4(FANCL):c.933T>G (p.Tyr311Ter) | Fanconi anemia [RCV003522183]|Fanconi anemia complementation group L [RCV004574072] | pathogenic|likely pathogenic | 2 | 58161609 | 58161609 | Human | 2 | name |
| 404991212 | CV2883404 | single nucleotide variant | NM_018062.4(FANCL):c.940C>T (p.Gln314Ter) | Fanconi anemia [RCV003525080] | pathogenic | 2 | 58161602 | 58161602 | Human | 1 | name |
| 405067166 | CV2896318 | single nucleotide variant | NM_018062.4(FANCL):c.563G>C (p.Ser188Thr) | Fanconi anemia [RCV003523582] | uncertain significance | 2 | 58165852 | 58165852 | Human | 1 | name |
| 405069797 | CV2903940 | single nucleotide variant | NM_018062.4(FANCL):c.384T>G (p.Tyr128Ter) | Fanconi anemia [RCV003523738] | pathogenic | 2 | 58204217 | 58204217 | Human | 1 | name |
| 404988333 | CV2911306 | single nucleotide variant | NM_018062.4(FANCL):c.953C>T (p.Thr318Ile) | Fanconi anemia [RCV003524781] | uncertain significance | 2 | 58161589 | 58161589 | Human | 1 | name |
| 405079134 | CV2913163 | single nucleotide variant | NM_018062.4(FANCL):c.862T>A (p.Leu288Ile) | Fanconi anemia [RCV003524409] | uncertain significance | 2 | 58162907 | 58162907 | Human | 1 | name |
| 405152749 | CV2967265 | single nucleotide variant | NM_018062.4(FANCL):c.955A>C (p.Ile319Leu) | Fanconi anemia [RCV003636956] | uncertain significance | 2 | 58161587 | 58161587 | Human | 1 | name |
| 405154105 | CV2972561 | single nucleotide variant | NM_018062.4(FANCL):c.385G>T (p.Ala129Ser) | Fanconi anemia [RCV003637062] | uncertain significance | 2 | 58204216 | 58204216 | Human | 1 | name |
| 405156239 | CV2985465 | single nucleotide variant | NM_018062.4(FANCL):c.842T>G (p.Leu281Ter) | Fanconi anemia [RCV003637234] | pathogenic | 2 | 58162927 | 58162927 | Human | 1 | name |
| 405164220 | CV3008577 | single nucleotide variant | NM_018062.4(FANCL):c.548T>A (p.Leu183Ter) | Fanconi anemia [RCV003637901] | pathogenic | 2 | 58165867 | 58165867 | Human | 1 | name |
| 405138709 | CV3034778 | single nucleotide variant | NM_018062.4(FANCL):c.325C>T (p.Gln109Ter) | Fanconi anemia [RCV003635618] | pathogenic | 2 | 58221991 | 58221991 | Human | 1 | name |
| 405146736 | CV3048134 | single nucleotide variant | NM_018062.4(FANCL):c.974A>T (p.Asp325Val) | Fanconi anemia [RCV003636440] | uncertain significance | 2 | 58161568 | 58161568 | Human | 1 | name |
| 405150150 | CV3069374 | single nucleotide variant | NM_018062.4(FANCL):c.612G>A (p.Met204Ile) | Fanconi anemia [RCV003636746] | uncertain significance | 2 | 58165803 | 58165803 | Human | 1 | name |
| 405160106 | CV3071851 | single nucleotide variant | NM_018062.4(FANCL):c.594G>C (p.Lys198Asn) | Fanconi anemia [RCV003637547]|Fanconi anemia complementation group L [RCV005038501]|Inborn genetic diseases [RCV004621891] | uncertain significance | 2 | 58165821 | 58165821 | Human | 3 | name |
| 405159633 | CV3079980 | single nucleotide variant | NM_018062.4(FANCL):c.736A>G (p.Thr246Ala) | Fanconi anemia [RCV003637509] | uncertain significance | 2 | 58163473 | 58163473 | Human | 1 | name |
| 405173441 | CV3151890 | single nucleotide variant | NM_018062.4(FANCL):c.616G>T (p.Glu206Ter) | Fanconi anemia [RCV003858041] | pathogenic | 2 | 58165799 | 58165799 | Human | 1 | name |
| 405762497 | CV3253028 | single nucleotide variant | NM_018062.4(FANCL):c.844C>G (p.Gln282Glu) | Inborn genetic diseases [RCV004383744] | uncertain significance | 2 | 58162925 | 58162925 | Human | 1 | name |
| 405762511 | CV3253030 | single nucleotide variant | NM_018062.4(FANCL):c.964C>G (p.Gln322Glu) | Inborn genetic diseases [RCV004383746] | uncertain significance | 2 | 58161578 | 58161578 | Human | 1 | name |
| 405868765 | CV3400595 | duplication | NM_018062.4(FANCL):c.1064dup (p.Phe356fs) | Fanconi anemia complementation group L [RCV004576598] | likely pathogenic | 2 | 58160135 | 58160136 | Human | 1 | name |
| 407492473 | CV3432092 | single nucleotide variant | NM_018062.4(FANCL):c.871G>A (p.Asp291Asn) | Inborn genetic diseases [RCV004620790] | uncertain significance | 2 | 58162898 | 58162898 | Human | 1 | name |
| 597661904 | CV3671924 | single nucleotide variant | NM_018062.4(FANCL):c.433G>C (p.Gly145Arg) | Inborn genetic diseases [RCV004977680] | uncertain significance | 2 | 58204168 | 58204168 | Human | 1 | name |
| 597661898 | CV3675813 | single nucleotide variant | NM_018062.4(FANCL):c.887C>G (p.Ala296Gly) | Inborn genetic diseases [RCV004977679] | uncertain significance | 2 | 58162882 | 58162882 | Human | 1 | name |
| 597649229 | CV3713556 | single nucleotide variant | NM_018062.4(FANCL):c.992A>G (p.Gln331Arg) | Fanconi anemia complementation group L [RCV005026650] | uncertain significance | 2 | 58161550 | 58161550 | Human | 1 | name |
| 597649248 | CV3713557 | single nucleotide variant | NM_018062.4(FANCL):c.956T>G (p.Ile319Ser) | Fanconi anemia complementation group L [RCV005026652] | uncertain significance | 2 | 58161586 | 58161586 | Human | 1 | name |
| 597649264 | CV3713560 | single nucleotide variant | NM_018062.4(FANCL):c.901T>G (p.Ser301Ala) | Fanconi anemia complementation group L [RCV005026654] | uncertain significance | 2 | 58162868 | 58162868 | Human | 1 | name |
| 597742898 | CV3713561 | single nucleotide variant | NM_018062.4(FANCL):c.787C>G (p.Leu263Val) | Fanconi anemia complementation group L [RCV005038992] | uncertain significance | 2 | 58163063 | 58163063 | Human | 1 | name |
| 597649273 | CV3713563 | single nucleotide variant | NM_018062.4(FANCL):c.748G>A (p.Glu250Lys) | Fanconi anemia complementation group L [RCV005026655] | uncertain significance | 2 | 58163461 | 58163461 | Human | 1 | name |
| 597742912 | CV3713564 | single nucleotide variant | NM_018062.4(FANCL):c.740T>C (p.Met247Thr) | Fanconi anemia complementation group L [RCV005038994] | uncertain significance | 2 | 58163469 | 58163469 | Human | 1 | name |
| 597649282 | CV3713565 | single nucleotide variant | NM_018062.4(FANCL):c.703T>G (p.Ser235Ala) | Fanconi anemia complementation group L [RCV005026656] | uncertain significance | 2 | 58163506 | 58163506 | Human | 1 | name |
| 597649291 | CV3713566 | single nucleotide variant | NM_018062.4(FANCL):c.582A>G (p.Ile194Met) | Fanconi anemia complementation group L [RCV005026657] | uncertain significance | 2 | 58165833 | 58165833 | Human | 1 | name |
| 597649300 | CV3713567 | single nucleotide variant | NM_018062.4(FANCL):c.518T>A (p.Phe173Tyr) | Fanconi anemia complementation group L [RCV005026658] | uncertain significance | 2 | 58198616 | 58198616 | Human | 1 | name |
| 597649308 | CV3713568 | single nucleotide variant | NM_018062.4(FANCL):c.491A>G (p.Asp164Gly) | Fanconi anemia complementation group L [RCV005026659] | uncertain significance | 2 | 58198643 | 58198643 | Human | 1 | name |
| 597742919 | CV3713570 | single nucleotide variant | NM_018062.4(FANCL):c.437G>A (p.Arg146Lys) | Fanconi anemia complementation group L [RCV005038995] | uncertain significance | 2 | 58204164 | 58204164 | Human | 1 | name |
| 597649318 | CV3713571 | single nucleotide variant | NM_018062.4(FANCL):c.380T>C (p.Val127Ala) | Fanconi anemia complementation group L [RCV005026660] | uncertain significance | 2 | 58204221 | 58204221 | Human | 1 | name |
| 597689416 | CV3713576 | single nucleotide variant | NM_018062.4(FANCL):c.352A>G (p.Ile118Val) | Fanconi anemia complementation group L [RCV005032365] | uncertain significance | 2 | 58221964 | 58221964 | Human | 1 | name |
| 597942882 | CV3757888 | single nucleotide variant | NM_018062.4(FANCL):c.542G>A (p.Ser181Asn) | Fanconi anemia [RCV005077887] | uncertain significance | 2 | 58165873 | 58165873 | Human | 1 | name |
| 597874082 | CV3775443 | duplication | NM_018062.4(FANCL):c.1046dup (p.Gln350fs) | Fanconi anemia [RCV005123173] | likely pathogenic | 2 | 58160153 | 58160154 | Human | 1 | name |
| 597975997 | CV3792755 | single nucleotide variant | NM_018062.4(FANCL):c.574G>T (p.Ala192Ser) | Fanconi anemia [RCV005144891] | uncertain significance | 2 | 58165841 | 58165841 | Human | 1 | name |
| 597931899 | CV3837936 | single nucleotide variant | NM_018062.4(FANCL):c.652A>G (p.Lys218Glu) | Fanconi anemia [RCV005185905] | uncertain significance | 2 | 58165763 | 58165763 | Human | 1 | name |
| 597945743 | CV3844937 | single nucleotide variant | NM_018062.4(FANCL):c.527C>G (p.Ser176Cys) | Fanconi anemia [RCV005188923] | uncertain significance | 2 | 58198607 | 58198607 | Human | 1 | name |
| 597916379 | CV3845741 | single nucleotide variant | NM_018062.4(FANCL):c.772C>T (p.His258Tyr) | Fanconi anemia [RCV005183536] | uncertain significance | 2 | 58163437 | 58163437 | Human | 1 | name |
| 597903820 | CV3846038 | single nucleotide variant | NM_018062.4(FANCL):c.760C>G (p.Leu254Val) | Fanconi anemia [RCV005181660] | uncertain significance | 2 | 58163449 | 58163449 | Human | 1 | name |
| 597931034 | CV3862433 | single nucleotide variant | NM_018062.4(FANCL):c.694A>G (p.Asn232Asp) | Fanconi anemia [RCV005206678] | uncertain significance | 2 | 58163515 | 58163515 | Human | 1 | name |
| 12892528 | CV393030 | single nucleotide variant | NM_018062.4(FANCL):c.967G>T (p.Val323Leu) | Fanconi anemia [RCV000474740] | uncertain significance | 2 | 58161575 | 58161575 | Human | 1 | name |
| 12882613 | CV393050 | single nucleotide variant | NM_018062.4(FANCL):c.344T>C (p.Ile115Thr) | Fanconi anemia [RCV000460001] | uncertain significance | 2 | 58221972 | 58221972 | Human | 1 | name |
| 12891547 | CV393421 | single nucleotide variant | NM_018062.4(FANCL):c.949G>A (p.Gly317Ser) | Fanconi anemia [RCV000476793]|Fanconi anemia complementation group L [RCV002480397] | uncertain significance | 2 | 58161593 | 58161593 | Human | 2 | name |
| 598198845 | CV3955192 | single nucleotide variant | NM_018062.4(FANCL):c.330C>G (p.Phe110Leu) | Inborn genetic diseases [RCV005336370] | uncertain significance | 2 | 58221986 | 58221986 | Human | 1 | name |
| 617149284 | CV4021494 | microsatellite | NM_018062.4(FANCL):c.692-1081_692-1079del | not provided [RCV005425463] | benign | 2 | 58164596 | 58164598 | Human | | name |
| 13214292 | CV428079 | single nucleotide variant | NM_018062.4(FANCL):c.712A>G (p.Ile238Val) | not specified [RCV000501081] | uncertain significance | 2 | 58163497 | 58163497 | Human | | name |
| 13486484 | CV451711 | single nucleotide variant | NM_018062.4(FANCL):c.319C>G (p.Pro107Ala) | Fanconi anemia [RCV000531284] | uncertain significance | 2 | 58221997 | 58221997 | Human | 1 | name |
| 13613026 | CV518564 | single nucleotide variant | NM_018062.4(FANCL):c.343A>G (p.Ile115Val) | Fanconi anemia [RCV000630937] | uncertain significance | 2 | 58221973 | 58221973 | Human | 1 | name |
| 13613028 | CV518565 | single nucleotide variant | NM_018062.4(FANCL):c.332A>G (p.Tyr111Cys) | Fanconi anemia [RCV000630938]|Fanconi anemia complementation group L [RCV005034206] | uncertain significance | 2 | 58221984 | 58221984 | Human | 2 | name |
| 13612776 | CV518630 | single nucleotide variant | NM_018062.4(FANCL):c.846A>T (p.Gln282His) | Fanconi anemia [RCV000630859]|Inborn genetic diseases [RCV005338268] | likely benign|uncertain significance | 2 | 58162923 | 58162923 | Human | 2 | name |
| 13612752 | CV518635 | single nucleotide variant | NM_018062.4(FANCL):c.622G>A (p.Asp208Asn) | Fanconi anemia [RCV000630848]|Fanconi anemia complementation group L [RCV001142205]|not provided [RCV005411508] | uncertain significance | 2 | 58165793 | 58165793 | Human | 2 | name |
| 13816810 | CV558245 | single nucleotide variant | NM_018062.4(FANCL):c.692G>A (p.Gly231Asp) | Fanconi anemia [RCV000692574]|Fanconi anemia complementation group L [RCV002499235]|Inborn genetic diseases [RCV004025122] | uncertain significance | 2 | 58163517 | 58163517 | Human | 3 | name |
| 13821549 | CV560871 | single nucleotide variant | NM_018062.4(FANCL):c.881C>T (p.Ala294Val) | Fanconi anemia [RCV000696050]|Fanconi anemia complementation group L [RCV002485689] | uncertain significance | 2 | 58162888 | 58162888 | Human | 2 | name |
| 13815368 | CV561857 | single nucleotide variant | NM_018062.4(FANCL):c.335C>T (p.Ser112Leu) | Fanconi anemia [RCV000691544]|not provided [RCV004692115] | uncertain significance | 2 | 58221981 | 58221981 | Human | 1 | name |
| 13831777 | CV582274 | duplication | NM_018062.4(FANCL):c.1076dup (p.Cys359fs) | not provided [RCV000722459] | uncertain significance | 2 | 58160123 | 58160124 | Human | | name |
| 13832534 | CV583029 | single nucleotide variant | NM_018062.4(FANCL):c.622G>T (p.Asp208Tyr) | not provided [RCV000723225] | uncertain significance | 2 | 58165793 | 58165793 | Human | | name |
| 14396189 | CV611572 | single nucleotide variant | NM_018062.4(FANCL):c.583G>T (p.Glu195Ter) | not provided [RCV000760927] | likely pathogenic | 2 | 58165832 | 58165832 | Human | | name |
| 14719911 | CV630401 | single nucleotide variant | NM_018062.4(FANCL):c.863T>C (p.Leu288Ser) | Fanconi anemia [RCV000812808] | uncertain significance | 2 | 58162906 | 58162906 | Human | 1 | name |
| 14736264 | CV630402 | single nucleotide variant | NM_018062.4(FANCL):c.394T>C (p.Cys132Arg) | Fanconi anemia [RCV000819949] | uncertain significance | 2 | 58204207 | 58204207 | Human | 1 | name |
| 14709211 | CV630403 | single nucleotide variant | NM_018062.4(FANCL):c.355G>A (p.Gly119Arg) | Fanconi anemia [RCV000809267]|Fanconi anemia complementation group L [RCV005029491] | uncertain significance | 2 | 58221961 | 58221961 | Human | 2 | name |
| 15147668 | CV686227 | single nucleotide variant | NM_018062.4(FANCL):c.739A>G (p.Met247Val) | FANCL-related disorder [RCV003975409]|Fanconi anemia [RCV000866504] | benign | 2 | 58163470 | 58163470 | Human | 2 | name , trait , alternate_id |
| 21067053 | CV790285 | single nucleotide variant | NM_018062.4(FANCL):c.778G>C (p.Val260Leu) | Fanconi anemia complementation group A [RCV000986762] | uncertain significance | 2 | 58163072 | 58163072 | Human | 1 | name |
| 26899523 | CV826851 | single nucleotide variant | NM_018062.4(FANCL):c.767C>G (p.Ala256Gly) | Fanconi anemia [RCV001070986] | uncertain significance | 2 | 58163442 | 58163442 | Human | 1 | name |
| 26904908 | CV826852 | single nucleotide variant | NM_018062.4(FANCL):c.662G>A (p.Arg221Gln) | Fanconi anemia [RCV001051070]|Fanconi anemia complementation group L [RCV002489617] | uncertain significance | 2 | 58165753 | 58165753 | Human | 2 | name |
| 26913029 | CV826853 | single nucleotide variant | NM_018062.4(FANCL):c.661C>T (p.Arg221Trp) | Fanconi anemia [RCV001039772]|Fanconi anemia complementation group L [RCV005029593] | uncertain significance | 2 | 58165754 | 58165754 | Human | 2 | name |
| 26900601 | CV826854 | single nucleotide variant | NM_018062.4(FANCL):c.649G>C (p.Glu217Gln) | Fanconi anemia [RCV001071324]|Fanconi anemia complementation group L [RCV002480444] | uncertain significance | 2 | 58165766 | 58165766 | Human | 2 | name |
| 26916373 | CV826855 | single nucleotide variant | NM_018062.4(FANCL):c.580A>G (p.Ile194Val) | Fanconi anemia [RCV001041926]|Fanconi anemia complementation group L [RCV002479267] | uncertain significance | 2 | 58165835 | 58165835 | Human | 2 | name |
| 28893997 | CV885241 | single nucleotide variant | NM_018062.4(FANCL):c.856G>T (p.Asp286Tyr) | Fanconi anemia complementation group L [RCV001140349] | uncertain significance | 2 | 58162913 | 58162913 | Human | 1 | name |
| 28894004 | CV885243 | single nucleotide variant | NM_018062.4(FANCL):c.677G>A (p.Arg226His) | Fanconi anemia [RCV001858916]|Fanconi anemia complementation group L [RCV001140352] | uncertain significance | 2 | 58165738 | 58165738 | Human | 2 | name |
| 28899014 | CV885244 | single nucleotide variant | NM_018062.4(FANCL):c.533C>A (p.Thr178Lys) | Fanconi anemia [RCV002557026]|Fanconi anemia complementation group L [RCV001142207] | uncertain significance | 2 | 58198601 | 58198601 | Human | 2 | name |
| 28899018 | CV885245 | single nucleotide variant | NM_018062.4(FANCL):c.524C>T (p.Ala175Val) | Fanconi anemia [RCV001366414]|Fanconi anemia complementation group L [RCV001142208]|Inborn genetic diseases [RCV004619523] | likely benign|uncertain significance | 2 | 58198610 | 58198610 | Human | 3 | name |
| 28899020 | CV885246 | single nucleotide variant | NM_018062.4(FANCL):c.493T>G (p.Tyr165Asp) | Fanconi anemia [RCV001231830]|Fanconi anemia complementation group L [RCV001142209] | uncertain significance | 2 | 58198641 | 58198641 | Human | 2 | name |
| 28899022 | CV885247 | single nucleotide variant | NM_018062.4(FANCL):c.436A>G (p.Arg146Gly) | Fanconi anemia complementation group L [RCV001142210] | uncertain significance | 2 | 58204165 | 58204165 | Human | 1 | name |
| 38482550 | CV922886 | single nucleotide variant | NM_018062.4(FANCL):c.650A>G (p.Glu217Gly) | Fanconi anemia [RCV001218515] | uncertain significance | 2 | 58165765 | 58165765 | Human | 1 | name |
| 38490505 | CV922887 | single nucleotide variant | NM_018062.4(FANCL):c.472T>G (p.Tyr158Asp) | Fanconi anemia [RCV001222186] | uncertain significance | 2 | 58198662 | 58198662 | Human | 1 | name |
| 38476919 | CV922888 | single nucleotide variant | NM_018062.4(FANCL):c.401G>T (p.Ser134Ile) | Fanconi anemia [RCV001215886]|Fanconi anemia complementation group L [RCV002484176] | uncertain significance | 2 | 58204200 | 58204200 | Human | 2 | name |
| 38470346 | CV931533 | single nucleotide variant | NM_018062.4(FANCL):c.474T>A (p.Tyr158Ter) | Fanconi anemia [RCV001202568] | pathogenic | 2 | 58198660 | 58198660 | Human | 1 | name |
| 38471409 | CV943050 | single nucleotide variant | NM_018062.4(FANCL):c.913A>G (p.Met305Val) | Fanconi anemia [RCV001231212]|Fanconi anemia complementation group L [RCV005029799]|not specified [RCV001819931] | uncertain significance | 2 | 58161629 | 58161629 | Human | 2 | name |
| 38457922 | CV943051 | single nucleotide variant | NM_018062.4(FANCL):c.860T>G (p.Val287Gly) | FANCL-related disorder [RCV003918789]|Fanconi anemia [RCV001228760]|Fanconi anemia complementation group L [RCV002484247] | uncertain significance | 2 | 58162909 | 58162909 | Human | 2 | name , trait , alternate_id |
| 38488017 | CV943052 | single nucleotide variant | NM_018062.4(FANCL):c.388G>T (p.Asp130Tyr) | Fanconi anemia [RCV001237849] | uncertain significance | 2 | 58204213 | 58204213 | Human | 1 | name |
| 42722910 | CV985190 | single nucleotide variant | NM_018062.4(FANCL):c.488C>G (p.Pro163Arg) | Fanconi anemia [RCV001863174]|Fanconi anemia complementation group L [RCV001292915] | uncertain significance | 2 | 58198646 | 58198646 | Human | 2 | name |
| 126745495 | CV988915 | single nucleotide variant | NM_018062.4(FANCL):c.679A>G (p.Arg227Gly) | Fanconi anemia [RCV001296465]|Fanconi anemia complementation group L [RCV002486128] | uncertain significance | 2 | 58165736 | 58165736 | Human | 2 | name |
| 126761929 | CV988916 | single nucleotide variant | NM_018062.4(FANCL):c.319C>T (p.Pro107Ser) | Fanconi anemia [RCV001309744] | uncertain significance | 2 | 58221997 | 58221997 | Human | 1 | name |
| 126749407 | CV1024647 | single nucleotide variant | NM_018062.4(FANCL):c.1021T>A (p.Trp341Arg) | Fanconi anemia [RCV001337845] | uncertain significance | 2 | 58160179 | 58160179 | Human | 1 | name |
| 127271175 | CV1091496 | single nucleotide variant | NM_018062.4(FANCL):c.1124A>C (p.His375Pro) | Fanconi anemia [RCV001441728] | likely benign | 2 | 58159769 | 58159769 | Human | 1 | name |
| 150554165 | CV1296558 | single nucleotide variant | NM_018062.4(FANCL):c.1065A>G (p.Ile355Met) | Fanconi anemia [RCV001861103]|not provided [RCV001770795] | uncertain significance | 2 | 58160135 | 58160135 | Human | 1 | name |
| 151748764 | CV1422552 | single nucleotide variant | NM_018062.4(FANCL):c.1024C>G (p.Leu342Val) | Fanconi anemia [RCV001927295]|Fanconi anemia complementation group L [RCV005023391] | uncertain significance | 2 | 58160176 | 58160176 | Human | 2 | name |
| 151875274 | CV1461217 | single nucleotide variant | NM_018062.4(FANCL):c.1121A>G (p.Lys374Arg) | Fanconi anemia [RCV001925734] | uncertain significance | 2 | 58159772 | 58159772 | Human | 1 | name |
| 151850695 | CV1461868 | single nucleotide variant | NM_018062.4(FANCL):c.1078C>A (p.Pro360Thr) | Fanconi anemia [RCV001978892]|Inborn genetic diseases [RCV002562783] | uncertain significance | 2 | 58160122 | 58160122 | Human | 2 | name |
| 151892345 | CV1480909 | single nucleotide variant | NM_018062.4(FANCL):c.1109T>C (p.Met370Thr) | Fanconi anemia [RCV001944016] | uncertain significance | 2 | 58159784 | 58159784 | Human | 1 | name |
| 151715228 | CV1493048 | single nucleotide variant | NM_018062.4(FANCL):c.1078C>G (p.Pro360Ala) | Fanconi anemia [RCV001890201] | uncertain significance | 2 | 58160122 | 58160122 | Human | 1 | name |
| 8556875 | CV17574 | indel | NM_018062.3(FANCL):c.822-15_822-9delins177 | Fanconi anemia complementation group L [RCV000002644] | pathogenic | 2 | 58162956 | 58162962 | Human | | name |
| 156141400 | CV1959726 | single nucleotide variant | NM_018062.4(FANCL):c.1123C>G (p.His375Asp) | Fanconi anemia [RCV002572585] | uncertain significance | 2 | 58159770 | 58159770 | Human | 1 | name |
| 156146866 | CV1970738 | single nucleotide variant | NM_018062.4(FANCL):c.1060A>G (p.Ile354Val) | Fanconi anemia [RCV002594019] | uncertain significance | 2 | 58160140 | 58160140 | Human | 1 | name |
| 156131067 | CV2125143 | single nucleotide variant | NM_018062.4(FANCL):c.1118G>C (p.Arg373Thr) | Fanconi anemia [RCV002953880] | uncertain significance | 2 | 58159775 | 58159775 | Human | 1 | name |
| 11345883 | CV238962 | single nucleotide variant | NM_018062.4(FANCL):c.1115G>C (p.Gly372Ala) | Fanconi anemia [RCV000226623]|Fanconi anemia complementation group L [RCV002494656]|not specified [RCV000500570] | likely benign | 2 | 58159778 | 58159778 | Human | 2 | name |
| 11349905 | CV238963 | single nucleotide variant | NM_018062.4(FANCL):c.1067T>G (p.Phe356Cys) | Fanconi anemia [RCV000232464] | uncertain significance | 2 | 58160133 | 58160133 | Human | 1 | name |
| 243049567 | CV2416850 | single nucleotide variant | NM_018062.4(FANCL):c.1096A>T (p.Ile366Phe) | not specified [RCV003151522] | uncertain significance | 2 | 58159797 | 58159797 | Human | | name |
| 401941245 | CV2835795 | single nucleotide variant | NM_018062.4(FANCL):c.1072G>T (p.Glu358Ter) | Fanconi anemia [RCV003779033]|Fanconi anemia complementation group L [RCV003461561] | likely pathogenic | 2 | 58160128 | 58160128 | Human | 2 | name |
| 405056388 | CV2882301 | single nucleotide variant | NM_018062.4(FANCL):c.1096A>G (p.Ile366Val) | Fanconi anemia [RCV003522576]|Fanconi anemia complementation group L [RCV005055221] | uncertain significance | 2 | 58159797 | 58159797 | Human | 2 | name |
| 404988513 | CV2930883 | single nucleotide variant | NM_018062.4(FANCL):c.1048C>T (p.Gln350Ter) | Fanconi anemia [RCV003524799] | likely pathogenic | 2 | 58160152 | 58160152 | Human | 1 | name |
| 405145503 | CV2958261 | single nucleotide variant | NM_018062.4(FANCL):c.1042A>G (p.Ser348Gly) | Fanconi anemia [RCV003636326] | uncertain significance | 2 | 58160158 | 58160158 | Human | 1 | name |
| 597649197 | CV3713552 | single nucleotide variant | NM_018062.4(FANCL):c.1040C>T (p.Thr347Ile) | Fanconi anemia complementation group L [RCV005026646] | uncertain significance | 2 | 58160160 | 58160160 | Human | 1 | name |
| 597649222 | CV3713555 | single nucleotide variant | NM_018062.4(FANCL):c.1016A>T (p.Tyr339Phe) | Fanconi anemia complementation group L [RCV005026649] | uncertain significance | 2 | 58161526 | 58161526 | Human | 1 | name |
| 597649334 | CV3713573 | indel | NM_018062.4(FANCL):c.375-20_375-18delinsAA | Fanconi anemia complementation group L [RCV005026662] | uncertain significance | 2 | 58204244 | 58204246 | Human | | name |
| 597857975 | CV3755787 | single nucleotide variant | NM_018062.4(FANCL):c.1018G>A (p.Glu340Lys) | Fanconi anemia [RCV005088938] | uncertain significance | 2 | 58161524 | 58161524 | Human | 1 | name |
| 597903787 | CV3793161 | single nucleotide variant | NM_018062.4(FANCL):c.1099A>C (p.Thr367Pro) | Fanconi anemia [RCV005153129] | uncertain significance | 2 | 58159794 | 58159794 | Human | 1 | name |
| 14716026 | CV630399 | single nucleotide variant | NM_018062.4(FANCL):c.1088G>A (p.Ser363Asn) | Fanconi anemia [RCV000794987] | uncertain significance | 2 | 58160112 | 58160112 | Human | 1 | name |
| 14730140 | CV630400 | single nucleotide variant | NM_018062.4(FANCL):c.1052G>A (p.Ser351Asn) | Fanconi anemia [RCV000817249]|Fanconi anemia complementation group L [RCV005029503] | uncertain significance | 2 | 58160148 | 58160148 | Human | 2 | name |
| 38483300 | CV922885 | single nucleotide variant | NM_018062.4(FANCL):c.1050G>T (p.Gln350His) | Fanconi anemia [RCV001218885]|Fanconi anemia complementation group L [RCV005029779]|Inborn genetic diseases [RCV003163681] | uncertain significance | 2 | 58160150 | 58160150 | Human | 3 | name |
| 150499355 | CV1254345 | insertion | NM_018062.4(FANCL):c.375-117_375-116insATTA | not provided [RCV001676519] | benign | 2 | 58204342 | 58204343 | Human | | name |
| 21067060 | CV790287 | deletion | NM_018062.4(FANCL):c.296_297del (p.Gln99fs) | Fanconi anemia [RCV001858651]|Fanconi anemia complementation group A [RCV000986764]|Fanconi anemia complementation group L [RCV003467543]|not provided [RCV002284451] | pathogenic|likely pathogenic|uncertain significance | 2 | 58222019 | 58222020 | Human | 3 | name |
| 127243472 | CV1059423 | microsatellite | NM_018062.4(FANCL):c.813_816del (p.His272fs) | Fanconi anemia [RCV001384023] | pathogenic | 2 | 58163034 | 58163037 | Human | | name |
| 151351415 | CV1323438 | deletion | NM_018062.4(FANCL):c.746_756del (p.Pro249fs) | Fanconi anemia complementation group L [RCV001806294] | pathogenic | 2 | 58163453 | 58163463 | Human | 1 | name |
| 151712787 | CV1479599 | deletion | NM_018062.4(FANCL):c.385_397del (p.Ala129fs) | Fanconi anemia [RCV001889720] | pathogenic | 2 | 58204204 | 58204216 | Human | 1 | name |
| 152093420 | CV1631950 | microsatellite | NM_018062.4(FANCL):c.694AAT[1] (p.Asn233del) | Fanconi anemia [RCV002132325] | benign | 2 | 58163510 | 58163512 | Human | | name |
| 152978589 | CV1671789 | deletion | NM_018062.4(FANCL):c.761_771del (p.Leu254fs) | Fanconi anemia complementation group A [RCV002227888] | pathogenic | 2 | 58163438 | 58163448 | Human | 1 | name |
| 11347693 | CV238967 | deletion | NM_018062.4(FANCL):c.426_438del (p.Asp142fs) | Fanconi anemia [RCV000232991] | pathogenic | 2 | 58204163 | 58204175 | Human | 1 | name |
| 329846362 | CV2524685 | indel | NM_018062.4(FANCL):c.148delinsTT (p.Asn50fs) | Fanconi anemia complementation group L [RCV003228168] | uncertain significance | 2 | 58232061 | 58232061 | Human | | name |
| 401942603 | CV2835798 | deletion | NM_018062.4(FANCL):c.716_728del (p.Glu239fs) | Fanconi anemia complementation group L [RCV003468189] | likely pathogenic | 2 | 58163481 | 58163493 | Human | 1 | name |
| 405156781 | CV2982717 | microsatellite | NM_018062.4(FANCL):c.455_456del (p.Leu152fs) | Fanconi anemia [RCV003637280] | pathogenic | 2 | 58204145 | 58204146 | Human | | name |
| 405868763 | CV3400593 | duplication | NM_018062.4(FANCL):c.328_335dup (p.Leu114fs) | Fanconi anemia complementation group L [RCV004576596] | likely pathogenic | 2 | 58221980 | 58221981 | Human | 1 | name |
| 597926270 | CV3840666 | deletion | NM_018062.4(FANCL):c.786_787del (p.Leu263fs) | Fanconi anemia [RCV005185137] | pathogenic | 2 | 58163063 | 58163064 | Human | 1 | name |
| 13467735 | CV451725 | microsatellite | NM_018062.4(FANCL):c.759_762del (p.Phe253fs) | Fanconi anemia [RCV000544104]|Fanconi anemia complementation group L [RCV003470721] | pathogenic|likely pathogenic | 2 | 58163447 | 58163450 | Human | | name |
| 14398975 | CV614248 | microsatellite | NM_018062.4(FANCL):c.548TAA[1] (p.Ile184del) | Fanconi anemia complementation group L [RCV000767962] | uncertain significance | 2 | 58165862 | 58165864 | Human | | name |
| 28880587 | CV859181 | duplication | NM_018062.4(FANCL):c.739_740dup (p.Met247fs) | Fanconi anemia [RCV001862686]|Fanconi anemia complementation group L [RCV005029685]|not provided [RCV001090967] | pathogenic | 2 | 58163468 | 58163469 | Human | 2 | name |
| 126762836 | CV1024650 | deletion | NM_018062.4(FANCL):c.625_627del (p.Glu209del) | Fanconi anemia [RCV001341087] | uncertain significance | 2 | 58165788 | 58165790 | Human | 1 | name |
| 155983176 | CV2098310 | microsatellite | NM_018062.4(FANCL):c.1033CTA[1] (p.Leu346del) | Fanconi anemia [RCV002907801] | uncertain significance | 2 | 58160162 | 58160164 | Human | | name |
| 156180150 | CV2155407 | insertion | NM_018062.4(FANCL):c.885_886insA (p.Ala296fs) | Fanconi anemia [RCV003005679] | pathogenic | 2 | 58162883 | 58162884 | Human | 1 | name |
| 126746291 | CV1015355 | microsatellite | NM_018062.4(FANCL):c.1051_1052dup (p.Ser351fs) | Fanconi anemia [RCV005408836]|Fanconi anemia complementation group L [RCV002504517] | likely pathogenic|uncertain significance | 2 | 58160147 | 58160148 | Human | | name |
| 12887672 | CV393419 | microsatellite | NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs) | Fanconi anemia [RCV000469469]|Fanconi anemia complementation group L [RCV003470446]|Inborn genetic diseases [RCV000624824] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 2 | 58160148 | 58160149 | Human | | name |
| 21405323 | CV799093 | deletion | NM_018062.4(FANCL):c.1048_1051del (p.Gln350fs) | Fanconi anemia complementation group L [RCV001000101]|not provided [RCV001195067] | pathogenic|likely pathogenic | 2 | 58160149 | 58160152 | Human | 1 | name |
| 405868758 | CV3400591 | insertion | NM_018062.4(FANCL):c.1017_1018insA (p.Glu340fs) | Fanconi anemia [RCV005101929]|Fanconi anemia complementation group L [RCV004576594] | pathogenic|likely pathogenic | 2 | 58161524 | 58161525 | Human | 2 | name |
| 156267188 | CV1919001 | indel | NM_018062.4(FANCL):c.280_281delinsTT (p.Ala94Phe) | Fanconi anemia [RCV002627970] | uncertain significance | 2 | 58222035 | 58222036 | Human | | name |
| 405136624 | CV3025199 | deletion | NM_018062.4(FANCL):c.863del (p.Val287_Leu288insTer) | Fanconi anemia [RCV003635435] | pathogenic | 2 | 58162906 | 58162906 | Human | 1 | name |
| 597649213 | CV3713554 | indel | NM_018062.4(FANCL):c.1016_1017delinsTTA (p.Tyr339fs) | Fanconi anemia complementation group L [RCV005026648] | likely pathogenic | 2 | 58161525 | 58161526 | Human | | name |
| 405057629 | CV2922863 | microsatellite | NM_018062.4(FANCL):c.231_232del (p.Ser77_Pro78insTer) | Fanconi anemia [RCV003522703] | pathogenic | 2 | 58226769 | 58226770 | Human | | name |
| 155931866 | CV2129202 | duplication | NM_018062.4(FANCL):c.558_561dup (p.Ser188delinsLeuTer) | Fanconi anemia [RCV002970673] | pathogenic | 2 | 58165853 | 58165854 | Human | 1 | name |
| 405163202 | CV2996737 | duplication | NM_018062.4(FANCL):c.639_642dup (p.Glu215delinsThrTer) | Fanconi anemia [RCV003637794] | pathogenic | 2 | 58165772 | 58165773 | Human | 1 | name |
| 597922905 | CV3775788 | deletion | NM_018062.4(FANCL):c.633_640del (p.Thr211_Trp212insTer) | Fanconi anemia [RCV005115503] | pathogenic | 2 | 58165775 | 58165782 | Human | 1 | name |
| 401942589 | CV2835791 | microsatellite | NM_018062.4(FANCL):c.1039_1042dup (p.Ser348delinsAsnTer) | Fanconi anemia [RCV003523190]|Fanconi anemia complementation group L [RCV003468186] | likely pathogenic | 2 | 58160157 | 58160158 | Human | | name |
| 11346400 | CV238964 | deletion | NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) | FANCL-related disorder [RCV003955360]|Fanconi anemia [RCV000228349]|Fanconi anemia complementation group L [RCV000500979]|Premature ovarian insufficiency [RCV000766177]|not provided [RCV000479284]|not specified [RCV002298549] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 2 | 58161533 | 58161535 | Human | 5 | name , trait , alternate_id |
| 401941246 | CV2835796 | deletion | NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer) | Fanconi anemia [RCV003636037]|Fanconi anemia complementation group L [RCV003461562] | pathogenic|likely pathogenic | 2 | 58160169 | 58160177 | Human | 2 | name |
| 14398976 | CV614249 | indel | NM_018062.4(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr) | Fanconi anemia [RCV001855968]|Fanconi anemia complementation group L [RCV000767963] | uncertain significance | 2 | 58232061 | 58232062 | Human | | name |
| 10407083 | CV207011 | duplication | NM_006296.7(VRK2):c.*102_*105dup | FANCL-related disorder [RCV003401051]|Fanconi anemia [RCV000226300]|Fanconi anemia complementation group L [RCV001195069]|Hereditary cancer [RCV005235093]|not provided [RCV000513086]|not specified [RCV000192919] | pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 2 | 58159793 | 58159794 | Human | 3 | trait , alternate_id |