| 11600149 | CV314330 | single nucleotide variant | NM_000037.4(ANK1):c.*4C>T | Hereditary spherocytosis type 1 [RCV000271261]|Spherocytosis [RCV001162508] | uncertain significance | 8 | 41661462 | 41661462 | Human | 3 | name , alternate_id |
| 28868459 | CV899566 | single nucleotide variant | NM_000037.4(ANK1):c.*8C>A | Hereditary spherocytosis type 1 [RCV001162507]|Spherocytosis [RCV001162506] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41661458 | 41661458 | Human | 3 | name , alternate_id |
| 405275606 | CV3196413 | single nucleotide variant | NM_000037.4(ANK1):c.*10G>A | ANK1-related disorder [RCV003974250] | likely benign | 8 | 41661456 | 41661456 | Human | | name , trait , alternate_id |
| 28909814 | CV899562 | single nucleotide variant | NM_000037.4(ANK1):c.*64A>G | Hereditary spherocytosis type 1 [RCV001160899]|Spherocytosis [RCV001160898] | uncertain significance | 8 | 41655726 | 41655726 | Human | 3 | name , alternate_id |
| 28909816 | CV899563 | single nucleotide variant | NM_000037.4(ANK1):c.*48G>A | Hereditary spherocytosis type 1 [RCV001160901]|Spherocytosis [RCV001160900] | uncertain significance | 8 | 41655742 | 41655742 | Human | 3 | name , alternate_id |
| 28868456 | CV899564 | single nucleotide variant | NM_000037.4(ANK1):c.*32G>A | Hereditary spherocytosis type 1 [RCV001162503]|Spherocytosis [RCV001162504] | uncertain significance | 8 | 41661434 | 41661434 | Human | 3 | name , alternate_id |
| 28868458 | CV899565 | single nucleotide variant | NM_000037.4(ANK1):c.*31C>T | Hereditary spherocytosis type 1 [RCV001162505] | uncertain significance | 8 | 41661435 | 41661435 | Human | 1 | name , alternate_id |
| 28908578 | CV899605 | single nucleotide variant | NM_000037.4(ANK1):c.-33G>A | Hereditary spherocytosis type 1 [RCV001160176]|Spherocytosis [RCV001160177] | uncertain significance | 8 | 41797571 | 41797571 | Human | 3 | name , alternate_id |
| 28908581 | CV899606 | single nucleotide variant | NM_000037.4(ANK1):c.-63A>G | Hereditary spherocytosis type 1 [RCV001160179]|Spherocytosis [RCV001160178] | uncertain significance | 8 | 41797601 | 41797601 | Human | 3 | name , alternate_id |
| 127288538 | CV1152320 | single nucleotide variant | NM_000037.4(ANK1):c.*417G>C | not provided [RCV001508607] | uncertain significance | 8 | 41655373 | 41655373 | Human | | name |
| 150548154 | CV1314177 | deletion | NM_000037.4(ANK1):c.28-2del | Hereditary spherocytosis type 1 [RCV001785930] | likely pathogenic | 8 | 41758139 | 41758139 | Human | | name , alternate_id |
| 156160014 | CV1984418 | single nucleotide variant | NM_000037.4(ANK1):c.28-2A>G | not provided [RCV002642372] | likely pathogenic | 8 | 41758139 | 41758139 | Human | | name |
| 11607419 | CV305267 | single nucleotide variant | NM_000037.4(ANK1):c.*774A>G | Hereditary spherocytosis type 1 [RCV000342881]|Spherocytosis [RCV001162405] | benign|likely benign|uncertain significance | 8 | 41655016 | 41655016 | Human | 3 | name , alternate_id |
| 11604150 | CV305268 | deletion | NM_000037.4(ANK1):c.*385del | Hereditary spherocytosis type 1 [RCV002253393]|Spherocytosis, Dominant [RCV000306529]|not provided [RCV001692058] | benign|likely benign | 8 | 41655405 | 41655405 | Human | 2 | name , alternate_id |
| 11601282 | CV309073 | single nucleotide variant | NM_000037.4(ANK1):c.*701C>T | Hereditary spherocytosis type 1 [RCV000280971]|Spherocytosis [RCV001164450] | uncertain significance | 8 | 41655089 | 41655089 | Human | 3 | name , alternate_id |
| 11609076 | CV309075 | single nucleotide variant | NM_000037.4(ANK1):c.*238T>C | Hereditary spherocytosis type 1 [RCV000363501]|Spherocytosis [RCV001160896]|not provided [RCV001692059] | benign|likely benign | 8 | 41655552 | 41655552 | Human | 3 | name , alternate_id |
| 11610155 | CV314329 | single nucleotide variant | NM_000037.4(ANK1):c.*992T>C | Hereditary spherocytosis type 1 [RCV000377724]|Spherocytosis [RCV001160780] | likely benign|uncertain significance | 8 | 41654798 | 41654798 | Human | 3 | name , alternate_id |
| 11660767 | CV314332 | single nucleotide variant | NM_000037.4(ANK1):c.*651A>C | Hereditary spherocytosis type 1 [RCV000369882]|Spherocytosis [RCV001164453] | uncertain significance | 8 | 41655139 | 41655139 | Human | 3 | name , alternate_id |
| 11612209 | CV314333 | duplication | NM_000037.4(ANK1):c.*484dup | Spherocytosis, Dominant [RCV000405198] | likely benign | 8 | 41655305 | 41655306 | Human | 1 | name |
| 597960031 | CV3797933 | single nucleotide variant | NM_000037.4(ANK1):c.27+5G>A | not provided [RCV005138407] | uncertain significance | 8 | 41797507 | 41797507 | Human | | name |
| 597957558 | CV3800444 | single nucleotide variant | NM_000037.4(ANK1):c.27+1G>A | not provided [RCV005137536] | likely pathogenic | 8 | 41797511 | 41797511 | Human | | name |
| 28909652 | CV899549 | single nucleotide variant | NM_000037.4(ANK1):c.*866C>G | Hereditary spherocytosis type 1 [RCV001160782]|Spherocytosis [RCV001160781] | uncertain significance | 8 | 41654924 | 41654924 | Human | 3 | name , alternate_id |
| 28909656 | CV899550 | single nucleotide variant | NM_000037.4(ANK1):c.*857C>A | Hereditary spherocytosis type 1 [RCV001160783]|Spherocytosis [RCV001160784] | likely benign|uncertain significance | 8 | 41654933 | 41654933 | Human | 3 | name , alternate_id |
| 28868292 | CV899551 | single nucleotide variant | NM_000037.4(ANK1):c.*822G>A | Hereditary spherocytosis type 1 [RCV001162400]|Spherocytosis [RCV001162399] | uncertain significance | 8 | 41654968 | 41654968 | Human | 3 | name , alternate_id |
| 28868294 | CV899552 | single nucleotide variant | NM_000037.4(ANK1):c.*821C>T | Hereditary spherocytosis type 1 [RCV001162402]|Spherocytosis [RCV001162401] | likely benign|uncertain significance | 8 | 41654969 | 41654969 | Human | 3 | name , alternate_id |
| 28868298 | CV899553 | single nucleotide variant | NM_000037.4(ANK1):c.*795A>G | Hereditary spherocytosis type 1 [RCV001162404]|Spherocytosis [RCV001162403] | uncertain significance | 8 | 41654995 | 41654995 | Human | 3 | name , alternate_id |
| 28872555 | CV899554 | single nucleotide variant | NM_000037.4(ANK1):c.*665C>T | Hereditary spherocytosis type 1 [RCV001164452]|Spherocytosis [RCV001164451] | uncertain significance | 8 | 41655125 | 41655125 | Human | 3 | name , alternate_id |
| 28872559 | CV899555 | single nucleotide variant | NM_000037.4(ANK1):c.*437A>C | Hereditary spherocytosis type 1 [RCV001164455]|Spherocytosis [RCV001164454] | uncertain significance | 8 | 41655353 | 41655353 | Human | 3 | name , alternate_id |
| 28907410 | CV899556 | single nucleotide variant | NM_000037.4(ANK1):c.*411C>G | Hereditary spherocytosis type 1 [RCV001159514]|Spherocytosis [RCV001159515] | uncertain significance | 8 | 41655379 | 41655379 | Human | 3 | name , alternate_id |
| 28907411 | CV899557 | single nucleotide variant | NM_000037.4(ANK1):c.*395T>A | Hereditary spherocytosis type 1 [RCV001159517]|Spherocytosis [RCV001159516] | likely benign|uncertain significance | 8 | 41655395 | 41655395 | Human | 3 | name , alternate_id |
| 28907415 | CV899558 | single nucleotide variant | NM_000037.4(ANK1):c.*385G>T | Hereditary spherocytosis type 1 [RCV001159518]|not provided [RCV004695016] | uncertain significance | 8 | 41655405 | 41655405 | Human | 1 | name , alternate_id |
| 28907417 | CV899559 | single nucleotide variant | NM_000037.4(ANK1):c.*378T>G | Hereditary spherocytosis type 1 [RCV001159519]|Spherocytosis [RCV001159520] | uncertain significance | 8 | 41655412 | 41655412 | Human | 3 | name , alternate_id |
| 28907420 | CV899560 | single nucleotide variant | NM_000037.4(ANK1):c.*372T>C | Hereditary spherocytosis type 1 [RCV001159521]|Spherocytosis [RCV001160895] | uncertain significance | 8 | 41655418 | 41655418 | Human | 3 | name , alternate_id |
| 28909811 | CV899561 | single nucleotide variant | NM_000037.4(ANK1):c.*117G>A | Hereditary spherocytosis type 1 [RCV001160897] | uncertain significance | 8 | 41655673 | 41655673 | Human | 1 | name , alternate_id |
| 41405155 | CV981648 | single nucleotide variant | NM_000037.4(ANK1):c.-204C>G | Hereditary spherocytosis type 1 [RCV001285464]|not provided [RCV003426026] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41797742 | 41797742 | Human | 1 | name , alternate_id |
| 127288536 | CV1152319 | single nucleotide variant | NM_000037.4(ANK1):c.*2272C>G | not provided [RCV001508606] | uncertain significance | 8 | 41653518 | 41653518 | Human | | name |
| 150533603 | CV1300885 | single nucleotide variant | NM_000037.4(ANK1):c.*36+1G>A | not provided [RCV001754745] | uncertain significance | 8 | 41661429 | 41661429 | Human | | name |
| 150548148 | CV1314171 | single nucleotide variant | NM_000037.4(ANK1):c.712-2A>T | Hereditary spherocytosis type 1 [RCV001785924] | likely pathogenic | 8 | 41723635 | 41723635 | Human | 1 | name , alternate_id |
| 155923762 | CV2148657 | single nucleotide variant | NM_000037.4(ANK1):c.129+1G>A | not provided [RCV003013312] | likely pathogenic | 8 | 41758035 | 41758035 | Human | | name |
| 243057897 | CV2407818 | single nucleotide variant | NM_000037.4(ANK1):c.612+1G>C | Hereditary spherocytosis type 1 [RCV003135640] | likely pathogenic | 8 | 41725760 | 41725760 | Human | 1 | name , alternate_id |
| 243063334 | CV2411674 | single nucleotide variant | NM_000037.4(ANK1):c.711+3A>C | Hereditary spherocytosis type 1 [RCV003141397] | uncertain significance | 8 | 41724453 | 41724453 | Human | 1 | name , alternate_id |
| 11545387 | CV253136 | single nucleotide variant | NM_000037.4(ANK1):c.909+7A>G | Hereditary spherocytosis type 1 [RCV000299497]|Spherocytosis [RCV001165444]|not provided [RCV001610718]|not specified [RCV000245066] | benign|likely benign | 8 | 41723118 | 41723118 | Human | 3 | name , alternate_id |
| 404984182 | CV2851546 | single nucleotide variant | NM_000037.4(ANK1):c.613-1G>A | Hereditary spherocytosis type 1 [RCV003489297] | likely pathogenic | 8 | 41724555 | 41724555 | Human | 1 | name , alternate_id |
| 404984316 | CV2851573 | single nucleotide variant | NM_000037.4(ANK1):c.810+1G>A | Hereditary spherocytosis type 1 [RCV003489324]|not provided [RCV005100325] | likely pathogenic | 8 | 41723534 | 41723534 | Human | 1 | name , alternate_id |
| 404984326 | CV2851575 | single nucleotide variant | NM_000037.4(ANK1):c.910-2A>G | Hereditary spherocytosis type 1 [RCV003489326] | likely pathogenic | 8 | 41719860 | 41719860 | Human | 1 | name , alternate_id |
| 405094532 | CV2947326 | single nucleotide variant | NM_000037.4(ANK1):c.712-2A>G | not provided [RCV003665532] | likely pathogenic | 8 | 41723635 | 41723635 | Human | | name |
| 405197184 | CV2976201 | duplication | NM_000037.4(ANK1):c.129+2dup | not provided [RCV003677791] | uncertain significance | 8 | 41758033 | 41758034 | Human | | name |
| 11609348 | CV305249 | single nucleotide variant | NM_000037.4(ANK1):c.*1899G>A | Hereditary spherocytosis type 1 [RCV000366817]|Spherocytosis [RCV001164226]|not provided [RCV004707200] | benign|likely benign | 8 | 41653891 | 41653891 | Human | 3 | name , alternate_id |
| 11606488 | CV305250 | single nucleotide variant | NM_000037.4(ANK1):c.*1667T>A | Hereditary spherocytosis type 1 [RCV000332051] | likely benign | 8 | 41654123 | 41654123 | Human | 1 | name , alternate_id |
| 11650170 | CV305258 | single nucleotide variant | NM_000037.4(ANK1):c.*1074A>G | Hereditary spherocytosis type 1 [RCV000291254]|Spherocytosis [RCV001159409] | uncertain significance | 8 | 41654716 | 41654716 | Human | 3 | name , alternate_id |
| 11654810 | CV305260 | single nucleotide variant | NM_000037.4(ANK1):c.*1062T>G | Hereditary spherocytosis type 1 [RCV000320809]|Spherocytosis [RCV001159410] | uncertain significance | 8 | 41654728 | 41654728 | Human | 3 | name , alternate_id |
| 11612336 | CV305318 | single nucleotide variant | NM_000037.4(ANK1):c.909+9T>C | Hereditary spherocytosis type 1 [RCV000407144]|Spherocytosis [RCV001165443]|not provided [RCV004696074] | uncertain significance | 8 | 41723116 | 41723116 | Human | 3 | name , alternate_id |
| 405042277 | CV3076810 | single nucleotide variant | NM_000037.4(ANK1):c.810+5G>A | not provided [RCV003740014] | uncertain significance | 8 | 41723530 | 41723530 | Human | | name |
| 405061606 | CV3081652 | single nucleotide variant | NM_000037.4(ANK1):c.427-2A>G | Hereditary spherocytosis type 1 [RCV003741617] | likely pathogenic | 8 | 41725948 | 41725948 | Human | 1 | name , alternate_id |
| 11603152 | CV309065 | single nucleotide variant | NM_000037.4(ANK1):c.*2152T>G | Hereditary spherocytosis type 1 [RCV000297098]|Spherocytosis [RCV001164222]|not provided [RCV004712581] | benign|likely benign | 8 | 41653638 | 41653638 | Human | 3 | name , alternate_id |
| 11598951 | CV309068 | single nucleotide variant | NM_000037.4(ANK1):c.*2022G>A | Hereditary spherocytosis type 1 [RCV000261700]|Spherocytosis [RCV001164224]|not provided [RCV004705466] | benign|likely benign | 8 | 41653768 | 41653768 | Human | 3 | name , alternate_id |
| 11651743 | CV309070 | single nucleotide variant | NM_000037.4(ANK1):c.*1952G>A | Hereditary spherocytosis type 1 [RCV000300555]|Spherocytosis [RCV001164225] | uncertain significance | 8 | 41653838 | 41653838 | Human | 3 | name , alternate_id |
| 405138457 | CV3130798 | single nucleotide variant | NM_000037.4(ANK1):c.28-17G>A | not provided [RCV003839032] | likely benign | 8 | 41758154 | 41758154 | Human | | name |
| 11652198 | CV314271 | single nucleotide variant | NM_000037.4(ANK1):c.*2342C>G | Hereditary spherocytosis type 1 [RCV000303495]|Spherocytosis [RCV001160581] | uncertain significance | 8 | 41653448 | 41653448 | Human | 3 | name , alternate_id |
| 11607329 | CV314274 | single nucleotide variant | NM_000037.4(ANK1):c.*2281C>T | Hereditary spherocytosis type 1 [RCV000342063]|Spherocytosis [RCV001162196] | uncertain significance | 8 | 41653509 | 41653509 | Human | 3 | name , alternate_id |
| 11608386 | CV314286 | single nucleotide variant | NM_000037.4(ANK1):c.*2123G>T | Hereditary spherocytosis type 1 [RCV000354283]|Spherocytosis [RCV001164223] | uncertain significance | 8 | 41653667 | 41653667 | Human | 3 | name , alternate_id |
| 11600531 | CV314288 | single nucleotide variant | NM_000037.4(ANK1):c.*1708G>C | Hereditary spherocytosis type 1 [RCV000274511]|Spherocytosis [RCV001160688]|not provided [RCV003311793] | likely benign|uncertain significance | 8 | 41654082 | 41654082 | Human | 3 | name , alternate_id |
| 11599886 | CV314292 | single nucleotide variant | NM_000037.4(ANK1):c.*1590G>A | Hereditary spherocytosis type 1 [RCV000269090]|Spherocytosis [RCV001162300] | uncertain significance | 8 | 41654200 | 41654200 | Human | 3 | name , alternate_id |
| 11662176 | CV314293 | single nucleotide variant | NM_000037.4(ANK1):c.*1242G>T | Hereditary spherocytosis type 1 [RCV000383515]|Spherocytosis [RCV001159406] | uncertain significance | 8 | 41654548 | 41654548 | Human | 3 | name , alternate_id |
| 11662936 | CV314299 | single nucleotide variant | NM_000037.4(ANK1):c.*2172C>A | Hereditary spherocytosis type 1 [RCV000390555]|Spherocytosis [RCV001162197] | uncertain significance | 8 | 41653618 | 41653618 | Human | 3 | name , alternate_id |
| 11609602 | CV314300 | single nucleotide variant | NM_000037.4(ANK1):c.*1609C>G | Hereditary spherocytosis type 1 [RCV000370331]|Spherocytosis [RCV001162297]|not provided [RCV004707201] | benign|likely benign | 8 | 41654181 | 41654181 | Human | 3 | name , alternate_id |
| 11606046 | CV314328 | single nucleotide variant | NM_000037.4(ANK1):c.*1402G>T | Hereditary spherocytosis type 1 [RCV000326563]|Spherocytosis [RCV001164333] | benign|likely benign|uncertain significance | 8 | 41654388 | 41654388 | Human | 3 | name , alternate_id |
| 405265859 | CV3220891 | single nucleotide variant | NM_000037.4(ANK1):c.327+5T>G | ANK1-related disorder [RCV003969055] | likely benign | 8 | 41727903 | 41727903 | Human | | name , trait , alternate_id |
| 596932374 | CV3538994 | single nucleotide variant | NM_000037.4(ANK1):c.328-9G>A | not provided [RCV004793120] | uncertain significance | 8 | 41727357 | 41727357 | Human | | name |
| 596930221 | CV3540216 | single nucleotide variant | NM_000037.4(ANK1):c.129+2T>G | not provided [RCV004792203] | likely pathogenic | 8 | 41758034 | 41758034 | Human | | name |
| 597921687 | CV3765248 | single nucleotide variant | NM_000037.4(ANK1):c.910-2A>T | not provided [RCV005115265] | likely pathogenic | 8 | 41719860 | 41719860 | Human | | name |
| 597923601 | CV3863002 | single nucleotide variant | NM_000037.4(ANK1):c.810+8C>T | not provided [RCV005205490] | likely benign | 8 | 41723527 | 41723527 | Human | | name |
| 598127495 | CV3882700 | single nucleotide variant | NM_000037.4(ANK1):c.129+5G>C | Hereditary spherocytosis type 1 [RCV005234230] | uncertain significance | 8 | 41758031 | 41758031 | Human | 1 | name , alternate_id |
| 598127570 | CV3882746 | single nucleotide variant | NM_000037.4(ANK1):c.811-2A>G | Hereditary spherocytosis type 1 [RCV005234277] | likely pathogenic | 8 | 41723225 | 41723225 | Human | 1 | name , alternate_id |
| 598215807 | CV3891475 | single nucleotide variant | NM_000037.4(ANK1):c.427-1G>A | Hereditary spherocytosis type 1 [RCV005252317] | pathogenic | 8 | 41725947 | 41725947 | Human | 1 | name , alternate_id |
| 12894153 | CV407382 | single nucleotide variant | NM_000037.4(ANK1):c.328-2A>G | not provided [RCV000481719] | likely pathogenic | 8 | 41727350 | 41727350 | Human | | name |
| 28909385 | CV899535 | single nucleotide variant | NM_000037.4(ANK1):c.*2409C>T | Hereditary spherocytosis type 1 [RCV001160580]|Spherocytosis [RCV001160579] | uncertain significance | 8 | 41653381 | 41653381 | Human | 3 | name , alternate_id |
| 28907100 | CV899536 | single nucleotide variant | NM_000037.4(ANK1):c.*1892G>T | Hereditary spherocytosis type 1 [RCV001159317]|Spherocytosis [RCV001159316] | uncertain significance | 8 | 41653898 | 41653898 | Human | 3 | name , alternate_id |
| 28907103 | CV899537 | single nucleotide variant | NM_000037.4(ANK1):c.*1892G>A | Hereditary spherocytosis type 1 [RCV001159319]|Spherocytosis [RCV001159318] | likely benign|uncertain significance | 8 | 41653898 | 41653898 | Human | 3 | name , alternate_id |
| 28907106 | CV899538 | single nucleotide variant | NM_000037.4(ANK1):c.*1884G>A | Hereditary spherocytosis type 1 [RCV001159320]|Spherocytosis [RCV001159321] | uncertain significance | 8 | 41653906 | 41653906 | Human | 3 | name , alternate_id |
| 28907111 | CV899539 | single nucleotide variant | NM_000037.4(ANK1):c.*1880C>A | Hereditary spherocytosis type 1 [RCV001160683]|Spherocytosis [RCV001159322] | uncertain significance | 8 | 41653910 | 41653910 | Human | 3 | name , alternate_id |
| 28909523 | CV899540 | single nucleotide variant | NM_000037.4(ANK1):c.*1858A>C | Hereditary spherocytosis type 1 [RCV001160684]|Spherocytosis [RCV001160685] | uncertain significance | 8 | 41653932 | 41653932 | Human | 3 | name , alternate_id |
| 28909526 | CV899541 | single nucleotide variant | NM_000037.4(ANK1):c.*1808A>G | Hereditary spherocytosis type 1 [RCV001160687]|Spherocytosis [RCV001160686] | uncertain significance | 8 | 41653982 | 41653982 | Human | 3 | name , alternate_id |
| 28868128 | CV899542 | single nucleotide variant | NM_000037.4(ANK1):c.*1603C>G | Hereditary spherocytosis type 1 [RCV001162298]|Spherocytosis [RCV001162299] | uncertain significance | 8 | 41654187 | 41654187 | Human | 3 | name , alternate_id |
| 28868130 | CV899543 | single nucleotide variant | NM_000037.4(ANK1):c.*1474C>T | Hereditary spherocytosis type 1 [RCV001162302]|Spherocytosis [RCV001162301] | uncertain significance | 8 | 41654316 | 41654316 | Human | 3 | name , alternate_id |
| 28872298 | CV899544 | single nucleotide variant | NM_000037.4(ANK1):c.*1424C>T | Hereditary spherocytosis type 1 [RCV001164329]|Spherocytosis [RCV001164330] | uncertain significance | 8 | 41654366 | 41654366 | Human | 3 | name , alternate_id |
| 28872300 | CV899545 | single nucleotide variant | NM_000037.4(ANK1):c.*1412G>A | Hereditary spherocytosis type 1 [RCV001164331]|Spherocytosis [RCV001164332] | uncertain significance | 8 | 41654378 | 41654378 | Human | 3 | name , alternate_id |
| 28872304 | CV899546 | single nucleotide variant | NM_000037.4(ANK1):c.*1250A>G | Hereditary spherocytosis type 1 [RCV001164335]|Spherocytosis [RCV001164334] | uncertain significance | 8 | 41654540 | 41654540 | Human | 3 | name , alternate_id |
| 28907242 | CV899547 | single nucleotide variant | NM_000037.4(ANK1):c.*1120T>C | Hereditary spherocytosis type 1 [RCV001159407]|Spherocytosis [RCV001159408] | uncertain significance | 8 | 41654670 | 41654670 | Human | 3 | name , alternate_id |
| 28909649 | CV899548 | single nucleotide variant | NM_000037.4(ANK1):c.*1031G>A | Hereditary spherocytosis type 1 [RCV001160778]|Spherocytosis [RCV001160779] | uncertain significance | 8 | 41654759 | 41654759 | Human | 3 | name , alternate_id |
| 28906175 | CV900499 | single nucleotide variant | NM_000037.4(ANK1):c.327+3A>G | Hereditary spherocytosis type 1 [RCV001158830]|Spherocytosis [RCV001158831]|not provided [RCV005093671] | uncertain significance | 8 | 41727905 | 41727905 | Human | 3 | name , alternate_id |
| 127289616 | CV1152331 | single nucleotide variant | NM_000037.4(ANK1):c.2960+1G>A | Hereditary spherocytosis type 1 [RCV003132510]|not provided [RCV001509341] | likely pathogenic | 8 | 41696362 | 41696362 | Human | 1 | name , alternate_id |
| 127289629 | CV1152335 | single nucleotide variant | NM_000037.4(ANK1):c.2098-5T>C | Hereditary spherocytosis type 1 [RCV003490265]|not provided [RCV001509345] | conflicting interpretations of pathogenicity|uncertain significance | 8 | 41704477 | 41704477 | Human | 1 | name , alternate_id |
| 127288050 | CV1152343 | single nucleotide variant | NM_000037.4(ANK1):c.909+24C>T | not provided [RCV001508246] | uncertain significance | 8 | 41723101 | 41723101 | Human | | name |
| 127288055 | CV1152345 | single nucleotide variant | NM_000037.4(ANK1):c.328-17C>T | not provided [RCV001508249] | uncertain significance | 8 | 41727365 | 41727365 | Human | | name |
| 150407493 | CV1182392 | single nucleotide variant | NM_000037.4(ANK1):c.909+36A>G | Hereditary spherocytosis type 1 [RCV001553993]|not provided [RCV001685513] | benign | 8 | 41723089 | 41723089 | Human | 1 | name , alternate_id |
| 150407496 | CV1182393 | single nucleotide variant | NM_000037.4(ANK1):c.229-47G>A | Hereditary spherocytosis type 1 [RCV001553994]|not provided [RCV001713041] | benign | 8 | 41728053 | 41728053 | Human | 1 | name , alternate_id |
| 150459879 | CV1231246 | single nucleotide variant | NM_000037.4(ANK1):c.612+77C>T | not provided [RCV001640810] | benign | 8 | 41725684 | 41725684 | Human | | name |
| 150460806 | CV1234691 | single nucleotide variant | NM_000037.4(ANK1):c.612+64G>A | not provided [RCV001649273] | benign | 8 | 41725697 | 41725697 | Human | | name |
| 150499679 | CV1235770 | single nucleotide variant | NM_000037.4(ANK1):c.327+42A>C | not provided [RCV001656453] | benign | 8 | 41727866 | 41727866 | Human | | name |
| 150470673 | CV1258634 | single nucleotide variant | NM_000037.4(ANK1):c.229-53C>T | not provided [RCV001684179] | benign | 8 | 41728059 | 41728059 | Human | | name |
| 150446385 | CV1261356 | single nucleotide variant | NM_000037.4(ANK1):c.229-55C>T | not provided [RCV001680030] | benign | 8 | 41728061 | 41728061 | Human | | name |
| 150495409 | CV1272624 | single nucleotide variant | NM_000037.4(ANK1):c.130-56G>A | not provided [RCV001688547] | benign | 8 | 41734125 | 41734125 | Human | | name |
| 150495486 | CV1272644 | single nucleotide variant | NM_000037.4(ANK1):c.*36+76C>G | not provided [RCV001688567] | benign | 8 | 41661354 | 41661354 | Human | | name |
| 150529682 | CV1289361 | single nucleotide variant | NM_000037.4(ANK1):c.3629+2T>C | Hereditary spherocytosis type 1 [RCV001728112] | pathogenic | 8 | 41693103 | 41693103 | Human | 1 | name , alternate_id |
| 150520564 | CV1290434 | single nucleotide variant | NM_000037.4(ANK1):c.2098-1G>T | Hereditary spherocytosis type 1 [RCV001731172] | pathogenic | 8 | 41704473 | 41704473 | Human | 1 | name , alternate_id |
| 150531971 | CV1291706 | single nucleotide variant | NM_000037.4(ANK1):c.1801-2A>T | not provided [RCV001733431] | likely pathogenic | 8 | 41708977 | 41708977 | Human | | name |
| 150548149 | CV1314172 | single nucleotide variant | NM_000037.4(ANK1):c.2961-2A>G | Hereditary spherocytosis type 1 [RCV001785925]|not provided [RCV003481128] | pathogenic|likely pathogenic | 8 | 41695333 | 41695333 | Human | 1 | name , alternate_id |
| 150548159 | CV1314181 | single nucleotide variant | NM_000037.4(ANK1):c.2558+2T>C | Hereditary spherocytosis type 1 [RCV001785934] | likely pathogenic | 8 | 41699450 | 41699450 | Human | 1 | name , alternate_id |
| 151349696 | CV1321619 | single nucleotide variant | NM_000037.4(ANK1):c.4538-6A>G | Hereditary spherocytosis type 1 [RCV001802603] | likely benign | 8 | 41672918 | 41672918 | Human | 1 | name , alternate_id |
| 151349802 | CV1321770 | single nucleotide variant | NM_000037.4(ANK1):c.1702-2A>G | Hereditary spherocytosis type 1 [RCV001802754] | pathogenic|likely pathogenic | 8 | 41714256 | 41714256 | Human | 1 | name , alternate_id |
| 151835937 | CV1347162 | single nucleotide variant | NM_000037.4(ANK1):c.4390+1G>A | Hereditary spherocytosis type 1 [RCV003130683]|not provided [RCV002031289] | likely pathogenic | 8 | 41686151 | 41686151 | Human | 1 | name , alternate_id |
| 151758519 | CV1391709 | single nucleotide variant | NM_000037.4(ANK1):c.3116-9T>A | not provided [RCV002043999] | uncertain significance | 8 | 41694812 | 41694812 | Human | | name |
| 151848857 | CV1453035 | single nucleotide variant | NM_000037.4(ANK1):c.2961-1G>A | not provided [RCV002032895] | likely pathogenic | 8 | 41695332 | 41695332 | Human | | name |
| 8555662 | CV15546 | single nucleotide variant | NG_012820.2(ANK1):g.104117T>C | Hereditary spherocytosis type 1 [RCV000988052]|SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE [RCV000000536]|not provided [RCV003482222]|not specified [RCV001777127] | pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41797646 | 41797646 | Human | 1 | name , alternate_id |
| 8555664 | CV15551 | single nucleotide variant | NG_012820.2(ANK1):g.104072G>A | SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE [RCV000000541]|not provided [RCV003430625] | pathogenic|benign|conflicting interpretations of pathogenicity | 8 | 41797691 | 41797691 | Human | 1 | name |
| 152158678 | CV1557248 | single nucleotide variant | NM_000037.4(ANK1):c.1603-6C>T | not provided [RCV002203056] | likely benign | 8 | 41715080 | 41715080 | Human | | name |
| 155644211 | CV1668580 | single nucleotide variant | NM_000037.4(ANK1):c.1305+1G>A | Hereditary spherocytosis type 1 [RCV002291010] | pathogenic | 8 | 41717603 | 41717603 | Human | 1 | name , alternate_id |
| 155644212 | CV1668581 | single nucleotide variant | NM_000037.4(ANK1):c.1405-9G>A | ANK1-related disorder [RCV003916392]|Hereditary spherocytosis type 1 [RCV002291011] | likely pathogenic | 8 | 41715858 | 41715858 | Human | 1 | name , alternate_id |
| 155644213 | CV1668582 | single nucleotide variant | NM_000037.4(ANK1):c.1602+1G>C | Hereditary spherocytosis type 1 [RCV002291012] | pathogenic | 8 | 41715651 | 41715651 | Human | 1 | name , alternate_id |
| 155644214 | CV1668583 | single nucleotide variant | NM_000037.4(ANK1):c.3629+1G>C | Hereditary spherocytosis type 1 [RCV002291013] | pathogenic | 8 | 41693104 | 41693104 | Human | 1 | name , alternate_id |
| 155268351 | CV1701759 | single nucleotide variant | NM_000037.4(ANK1):c.2389-8C>A | Hereditary spherocytosis type 1 [RCV002283990] | uncertain significance | 8 | 41701630 | 41701630 | Human | 1 | name , alternate_id |
| 156061964 | CV1868130 | single nucleotide variant | NM_000037.4(ANK1):c.4105-1G>A | not provided [RCV003037293] | likely pathogenic | 8 | 41688590 | 41688590 | Human | | name |
| 156045270 | CV2026567 | single nucleotide variant | NM_000037.4(ANK1):c.4390+1G>C | not provided [RCV002736329] | likely pathogenic | 8 | 41686151 | 41686151 | Human | | name |
| 156253297 | CV2041156 | single nucleotide variant | NM_000037.4(ANK1):c.130-20C>T | not provided [RCV002806084] | likely benign | 8 | 41734089 | 41734089 | Human | | name |
| 155995104 | CV2063978 | single nucleotide variant | NM_000037.4(ANK1):c.3629+4A>T | not provided [RCV002843144] | uncertain significance | 8 | 41693101 | 41693101 | Human | | name |
| 156034240 | CV2182384 | single nucleotide variant | NM_000037.4(ANK1):c.2098-1G>A | not provided [RCV003036313] | likely pathogenic | 8 | 41704473 | 41704473 | Human | | name |
| 156448734 | CV2402145 | single nucleotide variant | NM_000037.4(ANK1):c.2296-2A>C | Hereditary spherocytosis type 1 [RCV003120304] | likely pathogenic | 8 | 41702146 | 41702146 | Human | 1 | name , alternate_id |
| 243057841 | CV2408083 | single nucleotide variant | NM_000037.4(ANK1):c.5096+2T>G | Hereditary spherocytosis type 1 [RCV003133690] | likely pathogenic | 8 | 41672352 | 41672352 | Human | 1 | name , alternate_id |
| 243052871 | CV2410111 | single nucleotide variant | NM_000037.4(ANK1):c.3859-2A>G | Hereditary spherocytosis type 1 [RCV003143997] | likely pathogenic | 8 | 41690601 | 41690601 | Human | 1 | name , alternate_id |
| 243052031 | CV2412471 | single nucleotide variant | NM_000037.4(ANK1):c.2296-2A>G | Hereditary spherocytosis type 1 [RCV003130948]|not provided [RCV004790482] | pathogenic|likely pathogenic | 8 | 41702146 | 41702146 | Human | 1 | name , alternate_id |
| 243059943 | CV2412888 | single nucleotide variant | NM_000037.4(ANK1):c.3533-2A>G | Hereditary spherocytosis type 1 [RCV003135524]|not provided [RCV005099295] | pathogenic|likely pathogenic | 8 | 41693203 | 41693203 | Human | 1 | name , alternate_id |
| 243058429 | CV2412992 | single nucleotide variant | NM_000037.4(ANK1):c.4184-2A>G | Hereditary spherocytosis type 1 [RCV003134014] | likely pathogenic | 8 | 41688232 | 41688232 | Human | 1 | name , alternate_id |
| 243058739 | CV2413018 | single nucleotide variant | NM_000037.4(ANK1):c.3630-1G>A | Hereditary spherocytosis type 1 [RCV003134029] | likely pathogenic | 8 | 41692877 | 41692877 | Human | 1 | name , alternate_id |
| 243058679 | CV2413129 | single nucleotide variant | NM_000037.4(ANK1):c.4259-1G>T | Hereditary spherocytosis type 1 [RCV003134090]|not provided [RCV003481451] | likely pathogenic|uncertain significance | 8 | 41686284 | 41686284 | Human | 1 | name , alternate_id |
| 11548215 | CV253111 | single nucleotide variant | NM_000037.4(ANK1):c.5479-3T>C | Hereditary spherocytosis type 1 [RCV000605964]|Spherocytosis [RCV001159628]|not provided [RCV001689902]|not specified [RCV000248795] | benign|likely benign | 8 | 41661944 | 41661944 | Human | 4 | name , alternate_id |
| 11548980 | CV253123 | single nucleotide variant | NM_000037.4(ANK1):c.3115+8C>T | not provided [RCV003736682]|not specified [RCV000249812] | likely benign | 8 | 41695169 | 41695169 | Human | | name |
| 11552223 | CV253127 | single nucleotide variant | NM_000037.4(ANK1):c.2196+6G>A | Hereditary spherocytosis type 1 [RCV001158389]|Spherocytosis [RCV001158388]|not provided [RCV000909219]|not specified [RCV000254082] | benign|likely benign|uncertain significance | 8 | 41704368 | 41704368 | Human | 3 | name , alternate_id |
| 11547709 | CV253138 | single nucleotide variant | NM_000037.4(ANK1):c.612+18G>C | Hereditary spherocytosis type 1 [RCV001001840]|not provided [RCV001668571]|not specified [RCV000248117] | benign | 8 | 41725743 | 41725743 | Human | 1 | name , alternate_id |
| 11632557 | CV264367 | single nucleotide variant | NM_000037.4(ANK1):c.2736-1G>A | not provided [RCV000265707] | pathogenic | 8 | 41696588 | 41696588 | Human | | name |
| 401727275 | CV2736269 | single nucleotide variant | NM_000037.4(ANK1):c.2559-1G>A | not provided [RCV003312717] | pathogenic | 8 | 41698122 | 41698122 | Human | | name |
| 401830969 | CV2748617 | single nucleotide variant | NM_000037.4(ANK1):c.5096+1G>A | Hereditary spherocytosis type 1 [RCV003330267] | likely pathogenic | 8 | 41672353 | 41672353 | Human | 1 | name , alternate_id |
| 401912489 | CV2800580 | single nucleotide variant | NM_000037.4(ANK1):c.4104+2T>G | ANK1-related disorder [RCV003399864] | likely pathogenic | 8 | 41690225 | 41690225 | Human | | name , trait , alternate_id |
| 401913496 | CV2801614 | single nucleotide variant | NM_000037.4(ANK1):c.2461+1G>A | ANK1-related disorder [RCV003400079] | likely pathogenic | 8 | 41701549 | 41701549 | Human | | name , trait , alternate_id |
| 401923983 | CV2821056 | single nucleotide variant | NM_000037.4(ANK1):c.3858+6A>C | not provided [RCV003435474] | likely benign | 8 | 41692642 | 41692642 | Human | | name |
| 401961720 | CV2844042 | single nucleotide variant | NM_000037.4(ANK1):c.1107+5G>C | not provided [RCV003481882] | uncertain significance | 8 | 41719656 | 41719656 | Human | | name |
| 404988544 | CV2849602 | single nucleotide variant | NM_000037.4(ANK1):c.1801-3C>G | Hereditary spherocytosis type 1 [RCV003490457] | uncertain significance | 8 | 41708978 | 41708978 | Human | 1 | name , alternate_id |
| 404984202 | CV2851550 | single nucleotide variant | NM_000037.4(ANK1):c.2296-1G>A | Hereditary spherocytosis type 1 [RCV003489301] | likely pathogenic | 8 | 41702145 | 41702145 | Human | 1 | name , alternate_id |
| 404984235 | CV2851557 | single nucleotide variant | NM_000037.4(ANK1):c.2389-2A>G | Hereditary spherocytosis type 1 [RCV003489308] | likely pathogenic | 8 | 41701624 | 41701624 | Human | 1 | name , alternate_id |
| 404984242 | CV2851558 | single nucleotide variant | NM_000037.4(ANK1):c.4391-1G>C | Hereditary spherocytosis type 1 [RCV003489309] | likely pathogenic | 8 | 41684691 | 41684691 | Human | 1 | name , alternate_id |
| 404987420 | CV2916539 | single nucleotide variant | NM_000037.4(ANK1):c.3984+1G>T | Hereditary spherocytosis type 1 [RCV003741360]|not provided [RCV003569146] | pathogenic|likely pathogenic | 8 | 41690473 | 41690473 | Human | 1 | name , alternate_id |
| 402499639 | CV2922908 | single nucleotide variant | NM_000037.4(ANK1):c.5097-9G>A | not provided [RCV003573855] | uncertain significance | 8 | 41668573 | 41668573 | Human | | name |
| 405248086 | CV2983954 | single nucleotide variant | NM_000037.4(ANK1):c.2961-8T>C | not provided [RCV003685885] | likely benign | 8 | 41695339 | 41695339 | Human | | name |
| 405214015 | CV2985132 | single nucleotide variant | NM_000037.4(ANK1):c.3858+1G>A | not provided [RCV003709077] | likely pathogenic | 8 | 41692647 | 41692647 | Human | | name |
| 11606528 | CV305291 | single nucleotide variant | NM_000037.4(ANK1):c.3984+9A>G | Hereditary spherocytosis type 1 [RCV000331979]|Spherocytosis [RCV001161249]|not provided [RCV000897360] | likely benign|uncertain significance | 8 | 41690465 | 41690465 | Human | 3 | name , alternate_id |
| 11612396 | CV305330 | single nucleotide variant | NM_000037.4(ANK1):c.229-11A>G | Hereditary spherocytosis type 1 [RCV000407804]|Spherocytosis [RCV001160174]|not provided [RCV002523683] | likely benign|uncertain significance | 8 | 41728017 | 41728017 | Human | 3 | name , alternate_id |
| 405057007 | CV3081282 | single nucleotide variant | NM_000037.4(ANK1):c.1207-6T>C | Hereditary spherocytosis type 1 [RCV003741135]|not provided [RCV005063157] | likely benign|uncertain significance | 8 | 41717708 | 41717708 | Human | 1 | name , alternate_id |
| 405057049 | CV3081351 | single nucleotide variant | NM_000037.4(ANK1):c.3858+4A>G | Hereditary spherocytosis type 1 [RCV003741140] | uncertain significance | 8 | 41692644 | 41692644 | Human | 1 | name , alternate_id |
| 405057079 | CV3081404 | deletion | NM_000037.4(ANK1):c.1800+1del | Hereditary spherocytosis type 1 [RCV003741144] | pathogenic | 8 | 41714155 | 41714155 | Human | 1 | name , alternate_id |
| 11604639 | CV309110 | single nucleotide variant | NM_000037.4(ANK1):c.3115+9G>A | Hereditary spherocytosis type 1 [RCV000311563]|Spherocytosis [RCV001164984]|not provided [RCV000971000] | benign|likely benign|uncertain significance | 8 | 41695168 | 41695168 | Human | 3 | name , alternate_id |
| 11649144 | CV314297 | microsatellite | NM_000037.4(ANK1):c.*921TC[2] | Spherocytosis, Dominant [RCV000285567] | uncertain significance | 8 | 41654864 | 41654865 | Human | | name |
| 11607361 | CV314411 | single nucleotide variant | NM_000037.4(ANK1):c.2197-9A>G | Hereditary spherocytosis type 1 [RCV000342479]|Spherocytosis [RCV001158387] | uncertain significance | 8 | 41704148 | 41704148 | Human | 3 | name , alternate_id |
| 11598760 | CV314417 | single nucleotide variant | NM_000037.4(ANK1):c.711+13C>T | Hereditary spherocytosis type 1 [RCV000259672]|Spherocytosis [RCV001158720]|not provided [RCV003766090] | likely benign|uncertain significance | 8 | 41724443 | 41724443 | Human | 3 | name , alternate_id |
| 405279483 | CV3217536 | single nucleotide variant | NM_000037.4(ANK1):c.5545-9T>C | ANK1-related disorder [RCV003976926]|Hereditary spherocytosis type 1 [RCV005230610] | likely benign | 8 | 41661573 | 41661573 | Human | 1 | name , alternate_id |
| 407574671 | CV3499685 | single nucleotide variant | NM_000037.4(ANK1):c.1603-3C>A | Hereditary spherocytosis type 1 [RCV004720176] | uncertain significance | 8 | 41715077 | 41715077 | Human | 1 | name , alternate_id |
| 408378140 | CV3505042 | single nucleotide variant | NM_000037.4(ANK1):c.1107+1G>T | ANK1-related disorder [RCV004727834] | likely pathogenic | 8 | 41719660 | 41719660 | Human | | name , trait , alternate_id |
| 408382830 | CV3506076 | single nucleotide variant | NM_000037.4(ANK1):c.5394+8C>T | ANK1-related disorder [RCV004730201] | likely benign | 8 | 41668259 | 41668259 | Human | | name , trait , alternate_id |
| 408374514 | CV3516615 | single nucleotide variant | NM_000037.4(ANK1):c.2559-4G>C | ANK1-related disorder [RCV004746811] | likely benign | 8 | 41698125 | 41698125 | Human | | name , trait , alternate_id |
| 596932365 | CV3538985 | single nucleotide variant | NM_000037.4(ANK1):c.4259-2A>C | not provided [RCV004793111] | uncertain significance | 8 | 41686285 | 41686285 | Human | | name |
| 596932366 | CV3538986 | single nucleotide variant | NM_000037.4(ANK1):c.4104+4A>G | not provided [RCV004793112] | uncertain significance | 8 | 41690223 | 41690223 | Human | | name |
| 596932367 | CV3538987 | single nucleotide variant | NM_000037.4(ANK1):c.3985-3T>G | not provided [RCV004793113] | uncertain significance | 8 | 41690349 | 41690349 | Human | | name |
| 596932368 | CV3538988 | single nucleotide variant | NM_000037.4(ANK1):c.1603-3C>G | not provided [RCV004793114] | uncertain significance | 8 | 41715077 | 41715077 | Human | | name |
| 596930205 | CV3540210 | single nucleotide variant | NM_000037.4(ANK1):c.2637+1G>T | not provided [RCV004792197] | likely pathogenic | 8 | 41698042 | 41698042 | Human | | name |
| 596930208 | CV3540211 | single nucleotide variant | NM_000037.4(ANK1):c.1998+1G>T | not provided [RCV004792198] | likely pathogenic | 8 | 41708777 | 41708777 | Human | | name |
| 597853332 | CV3743377 | single nucleotide variant | NM_000037.4(ANK1):c.129+17C>T | Hereditary spherocytosis type 1 [RCV005230831]|not provided [RCV005060727] | likely benign | 8 | 41758019 | 41758019 | Human | 1 | name , alternate_id |
| 597858160 | CV3748237 | single nucleotide variant | NM_000037.4(ANK1):c.910-11T>C | not provided [RCV005067059] | likely benign | 8 | 41719869 | 41719869 | Human | | name |
| 597857644 | CV3755753 | single nucleotide variant | NM_000037.4(ANK1):c.810+15G>C | not provided [RCV005088904] | likely benign | 8 | 41723520 | 41723520 | Human | | name |
| 597874410 | CV3775488 | single nucleotide variant | NM_000037.4(ANK1):c.2559-1G>T | not provided [RCV005123218] | likely pathogenic | 8 | 41698122 | 41698122 | Human | | name |
| 597869155 | CV3784048 | single nucleotide variant | NM_000037.4(ANK1):c.3984+6G>T | not provided [RCV005122352] | uncertain significance | 8 | 41690468 | 41690468 | Human | | name |
| 597917632 | CV3789602 | single nucleotide variant | NM_000037.4(ANK1):c.4184-1G>C | not provided [RCV005129697] | likely pathogenic | 8 | 41688231 | 41688231 | Human | | name |
| 597951872 | CV3798439 | single nucleotide variant | NM_000037.4(ANK1):c.2559-3C>G | not provided [RCV005136220] | uncertain significance | 8 | 41698124 | 41698124 | Human | | name |
| 597954185 | CV3844362 | single nucleotide variant | NM_000037.4(ANK1):c.3984+5C>T | not provided [RCV005191035] | uncertain significance | 8 | 41690469 | 41690469 | Human | | name |
| 597928232 | CV3851754 | single nucleotide variant | NM_000037.4(ANK1):c.1998+3A>C | not provided [RCV005206222] | uncertain significance | 8 | 41708775 | 41708775 | Human | | name |
| 597869293 | CV3858416 | single nucleotide variant | NM_000037.4(ANK1):c.3858+2T>A | not provided [RCV005197159] | pathogenic | 8 | 41692646 | 41692646 | Human | | name |
| 598125476 | CV3881621 | deletion | NM_000037.4(ANK1):c.2462-2del | not provided [RCV005232527] | pathogenic | 8 | 41699550 | 41699550 | Human | | name |
| 598127435 | CV3882663 | single nucleotide variant | NM_000037.4(ANK1):c.3859-9C>G | Hereditary spherocytosis type 1 [RCV005234193] | likely benign | 8 | 41690608 | 41690608 | Human | 1 | name , alternate_id |
| 598127517 | CV3882713 | single nucleotide variant | NM_000037.4(ANK1):c.2559-5C>T | Hereditary spherocytosis type 1 [RCV005234244] | likely benign | 8 | 41698126 | 41698126 | Human | 1 | name , alternate_id |
| 598127940 | CV3882976 | single nucleotide variant | NM_000037.4(ANK1):c.2296-5C>T | Hereditary spherocytosis type 1 [RCV005234509] | likely benign | 8 | 41702149 | 41702149 | Human | 1 | name , alternate_id |
| 598128049 | CV3883065 | single nucleotide variant | NM_000037.4(ANK1):c.3116-2A>G | Hereditary spherocytosis type 1 [RCV005234598] | likely pathogenic | 8 | 41694805 | 41694805 | Human | 1 | name , alternate_id |
| 598128176 | CV3883196 | single nucleotide variant | NM_000037.4(ANK1):c.4390+4A>G | Hereditary spherocytosis type 1 [RCV005234729] | uncertain significance | 8 | 41686148 | 41686148 | Human | 1 | name , alternate_id |
| 617153034 | CV4021008 | single nucleotide variant | NM_000037.4(ANK1):c.2389-8C>T | not provided [RCV005428761] | uncertain significance | 8 | 41701630 | 41701630 | Human | | name |
| 13608852 | CV535249 | single nucleotide variant | NM_000037.4(ANK1):c.1702-2A>C | Hereditary spherocytosis type 1 [RCV000655897] | pathogenic | 8 | 41714256 | 41714256 | Human | 1 | name , alternate_id |
| 15159915 | CV730572 | single nucleotide variant | NM_000037.4(ANK1):c.3115+9G>C | Hereditary spherocytosis type 1 [RCV005231933]|not provided [RCV000881284] | benign | 8 | 41695168 | 41695168 | Human | 1 | name , alternate_id |
| 15113332 | CV730573 | single nucleotide variant | NM_000037.4(ANK1):c.327+10C>T | not provided [RCV000894645] | likely benign | 8 | 41727898 | 41727898 | Human | | name |
| 15136392 | CV779530 | single nucleotide variant | NM_000037.4(ANK1):c.1702-4G>A | not provided [RCV000965447] | likely benign | 8 | 41714258 | 41714258 | Human | | name |
| 21069749 | CV796172 | single nucleotide variant | NM_000037.4(ANK1):c.1108-1G>T | not provided [RCV000999028] | likely pathogenic | 8 | 41718205 | 41718205 | Human | | name |
| 21405860 | CV799545 | single nucleotide variant | NM_000037.4(ANK1):c.1998+5G>A | Hereditary spherocytosis type 1 [RCV001001291] | uncertain significance | 8 | 41708773 | 41708773 | Human | 1 | name , alternate_id |
| 28910087 | CV900493 | single nucleotide variant | NM_000037.4(ANK1):c.4390+9C>T | Hereditary spherocytosis type 1 [RCV001161137]|Spherocytosis [RCV001161136] | uncertain significance | 8 | 41686143 | 41686143 | Human | 3 | name , alternate_id |
| 28868770 | CV900494 | single nucleotide variant | NM_000037.4(ANK1):c.4183+4C>T | Hereditary spherocytosis type 1 [RCV001162698]|Spherocytosis [RCV001162699] | uncertain significance | 8 | 41688507 | 41688507 | Human | 3 | name , alternate_id |
| 28873161 | CV900495 | single nucleotide variant | NM_000037.4(ANK1):c.4105-5T>G | ANK1-related disorder [RCV003945886]|Hereditary spherocytosis type 1 [RCV001164754]|Spherocytosis [RCV001164755]|not provided [RCV002557409] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41688594 | 41688594 | Human | 3 | name , alternate_id |
| 38463067 | CV959892 | single nucleotide variant | NM_000037.4(ANK1):c.1405-2A>G | not provided [RCV001229794] | likely pathogenic | 8 | 41715851 | 41715851 | Human | | name |
| 41405514 | CV981626 | single nucleotide variant | NM_000037.4(ANK1):c.3984+2T>C | ANK1-related disorder [RCV004727076]|Hereditary spherocytosis type 1 [RCV001286718]|not provided [RCV002537948] | pathogenic|likely pathogenic | 8 | 41690472 | 41690472 | Human | 1 | name , alternate_id |
| 41405908 | CV981636 | single nucleotide variant | NM_000037.4(ANK1):c.2389-1G>A | Hereditary spherocytosis type 1 [RCV001287845] | pathogenic | 8 | 41701623 | 41701623 | Human | 1 | name , alternate_id |
| 41405576 | CV981641 | single nucleotide variant | NM_000037.4(ANK1):c.1800+3A>T | Hereditary spherocytosis type 1 [RCV001286849] | uncertain significance | 8 | 41714153 | 41714153 | Human | 1 | name , alternate_id |
| 127288541 | CV1152321 | single nucleotide variant | NM_000037.4(ANK1):c.5545-72T>G | not provided [RCV001508608] | uncertain significance | 8 | 41661636 | 41661636 | Human | | name |
| 127289627 | CV1152334 | single nucleotide variant | NM_000037.4(ANK1):c.2197-17G>A | Hereditary spherocytosis type 1 [RCV001803333]|not provided [RCV001509344] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41704156 | 41704156 | Human | 1 | name , alternate_id |
| 150339430 | CV1167440 | single nucleotide variant | NM_000037.4(ANK1):c.*37-259A>G | not provided [RCV001534228] | benign | 8 | 41656012 | 41656012 | Human | | name |
| 150336113 | CV1171851 | single nucleotide variant | NM_000037.4(ANK1):c.2960+46C>T | not provided [RCV001540846] | benign | 8 | 41696317 | 41696317 | Human | | name |
| 150407489 | CV1182391 | single nucleotide variant | NM_000037.4(ANK1):c.4538-52G>C | Hereditary spherocytosis type 1 [RCV001553992]|not provided [RCV001615310] | benign | 8 | 41672964 | 41672964 | Human | 1 | name , alternate_id |
| 150407500 | CV1182394 | single nucleotide variant | NM_000037.4(ANK1):c.129+125C>T | Hereditary spherocytosis type 1 [RCV001553995]|not provided [RCV001694100] | benign | 8 | 41757911 | 41757911 | Human | 1 | name , alternate_id |
| 150512945 | CV1213052 | single nucleotide variant | NM_000037.4(ANK1):c.1702-30G>C | not provided [RCV001598285] | benign | 8 | 41714284 | 41714284 | Human | | name |
| 150449721 | CV1215146 | single nucleotide variant | NM_000037.4(ANK1):c.427-250A>G | not provided [RCV001611736] | benign | 8 | 41726196 | 41726196 | Human | | name |
| 150461134 | CV1215768 | deletion | NM_000037.4(ANK1):c.1108-28del | not provided [RCV001613470] | benign | 8 | 41718232 | 41718232 | Human | | name |
| 150503173 | CV1223401 | single nucleotide variant | NM_000037.4(ANK1):c.910-147G>A | not provided [RCV001621336] | benign | 8 | 41720005 | 41720005 | Human | | name |
| 150500565 | CV1224815 | single nucleotide variant | NM_000037.4(ANK1):c.*37-267A>G | not provided [RCV001620647] | benign | 8 | 41656020 | 41656020 | Human | | name |
| 150494594 | CV1224926 | single nucleotide variant | NM_000037.4(ANK1):c.3859-90G>A | not provided [RCV001619404] | benign | 8 | 41690689 | 41690689 | Human | | name |
| 150516831 | CV1227270 | single nucleotide variant | NM_000037.4(ANK1):c.*37-181G>A | not provided [RCV001639370] | benign | 8 | 41655934 | 41655934 | Human | | name |
| 150445254 | CV1233146 | single nucleotide variant | NM_000037.4(ANK1):c.*36+233G>A | not provided [RCV001645819] | benign | 8 | 41661197 | 41661197 | Human | | name |
| 150461193 | CV1234747 | single nucleotide variant | NM_000037.4(ANK1):c.1107+58G>C | not provided [RCV001649329] | benign | 8 | 41719603 | 41719603 | Human | | name |
| 150498793 | CV1235625 | single nucleotide variant | NM_000037.4(ANK1):c.712-166A>T | not provided [RCV001656308] | benign | 8 | 41723799 | 41723799 | Human | | name |
| 150437988 | CV1237962 | single nucleotide variant | NM_000037.4(ANK1):c.2559-97G>A | not provided [RCV001644460] | benign | 8 | 41698218 | 41698218 | Human | | name |
| 150484908 | CV1250120 | single nucleotide variant | NM_000037.4(ANK1):c.228+215C>T | not provided [RCV001673733] | benign | 8 | 41733756 | 41733756 | Human | | name |
| 150460226 | CV1253073 | single nucleotide variant | NM_000037.4(ANK1):c.711+256T>A | not provided [RCV001669402] | benign | 8 | 41724200 | 41724200 | Human | | name |
| 150466783 | CV1255796 | single nucleotide variant | NM_000037.4(ANK1):c.712-136A>G | not provided [RCV001670430] | benign | 8 | 41723769 | 41723769 | Human | | name |
| 150472358 | CV1259281 | single nucleotide variant | NM_000037.4(ANK1):c.910-119A>G | not provided [RCV001684527] | benign | 8 | 41719977 | 41719977 | Human | | name |
| 150487390 | CV1262732 | single nucleotide variant | NM_000037.4(ANK1):c.4258+33T>C | not provided [RCV001687130] | benign | 8 | 41688123 | 41688123 | Human | | name |
| 150484450 | CV1263181 | single nucleotide variant | NM_001142446.2(ANK1):c.-207C>G | not provided [RCV001686581] | benign | 8 | 41896687 | 41896687 | Human | | name |
| 150489062 | CV1265350 | single nucleotide variant | NM_000037.4(ANK1):c.810+147C>T | not provided [RCV001687386] | benign | 8 | 41723388 | 41723388 | Human | | name |
| 150493597 | CV1267179 | single nucleotide variant | NM_000037.4(ANK1):c.3859-92G>A | not provided [RCV001688207] | benign | 8 | 41690691 | 41690691 | Human | | name |
| 150491086 | CV1267719 | single nucleotide variant | NM_000037.4(ANK1):c.4104+62A>G | not provided [RCV001687743] | benign | 8 | 41690165 | 41690165 | Human | | name |
| 150465284 | CV1268584 | single nucleotide variant | NM_000037.4(ANK1):c.4104+85C>T | not provided [RCV001694280] | benign | 8 | 41690142 | 41690142 | Human | | name |
| 150498099 | CV1271453 | single nucleotide variant | NM_001142446.2(ANK1):c.-129C>T | not provided [RCV001689143] | benign | 8 | 41896609 | 41896609 | Human | | name |
| 150476879 | CV1271965 | single nucleotide variant | NM_000037.4(ANK1):c.4391-49C>T | not provided [RCV001696250] | benign | 8 | 41684739 | 41684739 | Human | | name |
| 150448648 | CV1275569 | single nucleotide variant | NM_000037.4(ANK1):c.2637+88A>G | not provided [RCV001708024] | benign | 8 | 41697955 | 41697955 | Human | | name |
| 150444544 | CV1278010 | deletion | NM_000037.4(ANK1):c.2389-45del | not provided [RCV001707153] | benign | 8 | 41701667 | 41701667 | Human | | name |
| 150482245 | CV1279939 | single nucleotide variant | NM_000037.4(ANK1):c.1702-54G>C | not provided [RCV001714992] | benign | 8 | 41714308 | 41714308 | Human | | name |
| 150512192 | CV1284886 | deletion | NM_000037.4(ANK1):c.3630-73del | not provided [RCV001721755] | benign | 8 | 41692949 | 41692949 | Human | | name |
| 151349902 | CV1321162 | single nucleotide variant | NM_000037.4(ANK1):c.1305+21G>A | Hereditary spherocytosis type 1 [RCV001803575] | likely benign | 8 | 41717583 | 41717583 | Human | 1 | name , alternate_id |
| 151349915 | CV1321182 | single nucleotide variant | NM_000037.4(ANK1):c.1602+18G>A | Hereditary spherocytosis type 1 [RCV001803595] | likely benign | 8 | 41715634 | 41715634 | Human | 1 | name , alternate_id |
| 151349721 | CV1321652 | single nucleotide variant | NM_000037.4(ANK1):c.1999-17C>T | Hereditary spherocytosis type 1 [RCV001802636]|not provided [RCV002074169] | benign|likely benign | 8 | 41706258 | 41706258 | Human | 1 | name , alternate_id |
| 151760219 | CV1499992 | single nucleotide variant | NM_000037.4(ANK1):c.3328-13T>A | not provided [RCV001895221] | uncertain significance | 8 | 41694115 | 41694115 | Human | | name |
| 8555663 | CV15547 | deletion | NM_000037.4(ANK1):c.-73_-72del | SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE [RCV000000537] | pathogenic | 8 | 41797610 | 41797611 | Human | 1 | name |
| 8555665 | CV15552 | single nucleotide variant | NM_000037.4(ANK1):c.1801-17G>A | Hereditary spherocytosis type 1 [RCV000655898]|SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE [RCV000000542]|not provided [RCV001091597] | pathogenic|likely pathogenic | 8 | 41708992 | 41708992 | Human | 1 | name , alternate_id |
| 152085922 | CV1608269 | single nucleotide variant | NM_000037.4(ANK1):c.1801-18C>T | not provided [RCV002212039] | likely benign | 8 | 41708993 | 41708993 | Human | | name |
| 152036977 | CV1646188 | single nucleotide variant | NM_000037.4(ANK1):c.1999-18A>G | not provided [RCV002205753] | likely benign | 8 | 41706259 | 41706259 | Human | | name |
| 152145667 | CV1649398 | single nucleotide variant | NM_000037.4(ANK1):c.3327+19G>T | Hereditary spherocytosis type 1 [RCV003741293]|not provided [RCV002121000] | likely benign | 8 | 41694573 | 41694573 | Human | 1 | name , alternate_id |
| 153303691 | CV1686419 | single nucleotide variant | NM_000037.4(ANK1):c.2462-26G>A | not provided [RCV002261852] | uncertain significance | 8 | 41699574 | 41699574 | Human | | name |
| 156325057 | CV2032412 | single nucleotide variant | NM_000037.4(ANK1):c.2196+12C>A | not provided [RCV002717357] | likely benign | 8 | 41704362 | 41704362 | Human | | name |
| 155998500 | CV2106615 | single nucleotide variant | NM_000037.4(ANK1):c.3532+10G>A | not provided [RCV002947673] | likely benign | 8 | 41693888 | 41693888 | Human | | name |
| 156209937 | CV2160418 | deletion | NM_000037.4(ANK1):c.5544+11del | not provided [RCV003042291] | uncertain significance | 8 | 41661865 | 41661865 | Human | | name |
| 156448715 | CV2402125 | single nucleotide variant | NM_000037.4(ANK1):c.3984+10C>T | Hereditary spherocytosis type 1 [RCV003120284] | likely benign | 8 | 41690464 | 41690464 | Human | 1 | name , alternate_id |
| 156448767 | CV2402178 | single nucleotide variant | NM_000037.4(ANK1):c.2461+20C>T | Hereditary spherocytosis type 1 [RCV003120337] | likely benign | 8 | 41701530 | 41701530 | Human | 1 | name , alternate_id |
| 243059518 | CV2406329 | single nucleotide variant | NM_000037.4(ANK1):c.5097-33G>A | Hereditary spherocytosis type 1 [RCV003135006] | pathogenic | 8 | 41668597 | 41668597 | Human | 1 | name , alternate_id |
| 11551852 | CV253110 | single nucleotide variant | NM_000037.4(ANK1):c.5544+91C>T | Hereditary spherocytosis type 1 [RCV000988051]|not provided [RCV001508609]|not specified [RCV000253589] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41661785 | 41661785 | Human | 1 | name , alternate_id |
| 11550488 | CV253113 | single nucleotide variant | NM_000037.4(ANK1):c.5096+16T>C | Hereditary spherocytosis type 1 [RCV000615666]|not provided [RCV001689901]|not specified [RCV000251821] | benign | 8 | 41672338 | 41672338 | Human | 1 | name , alternate_id |
| 11547120 | CV253116 | single nucleotide variant | NM_000037.4(ANK1):c.4390+16C>T | not specified [RCV000247347] | likely benign | 8 | 41686136 | 41686136 | Human | | name |
| 11545680 | CV253124 | single nucleotide variant | NM_000037.4(ANK1):c.2960+13G>T | Hereditary spherocytosis type 1 [RCV000270233]|Spherocytosis [RCV001160078]|not provided [RCV003765541]|not specified [RCV000245467] | likely benign|uncertain significance | 8 | 41696350 | 41696350 | Human | 3 | name , alternate_id |
| 404988472 | CV2849590 | duplication | NM_000037.4(ANK1):c.28-6_29dup | Hereditary spherocytosis type 1 [RCV003490445]|not provided [RCV004790571] | likely pathogenic|uncertain significance | 8 | 41758135 | 41758136 | Human | 1 | name , alternate_id |
| 405240938 | CV2905068 | single nucleotide variant | NM_000037.4(ANK1):c.1801-18C>A | not provided [RCV003557393] | uncertain significance | 8 | 41708993 | 41708993 | Human | | name |
| 405185515 | CV2963893 | single nucleotide variant | NM_000037.4(ANK1):c.5544+15G>T | not provided [RCV003676711] | likely benign | 8 | 41661861 | 41661861 | Human | | name |
| 405056989 | CV3081263 | single nucleotide variant | NM_000037.4(ANK1):c.3115+18C>T | Hereditary spherocytosis type 1 [RCV003741133] | likely benign | 8 | 41695159 | 41695159 | Human | 1 | name , alternate_id |
| 405061593 | CV3081589 | single nucleotide variant | NM_000037.4(ANK1):c.4391-18T>C | Hereditary spherocytosis type 1 [RCV003741615] | likely benign | 8 | 41684708 | 41684708 | Human | 1 | name , alternate_id |
| 11635398 | CV309074 | microsatellite | NM_000037.4(ANK1):c.*637AC[13] | Spherocytosis, Dominant [RCV000338462] | uncertain significance | 8 | 41655129 | 41655130 | Human | | name |
| 11603678 | CV309084 | single nucleotide variant | NM_000037.4(ANK1):c.4259-13T>C | Hereditary spherocytosis type 1 [RCV000302251]|Spherocytosis [RCV001162697]|not provided [RCV001509335] | uncertain significance | 8 | 41686296 | 41686296 | Human | 3 | name , alternate_id |
| 11601886 | CV309154 | single nucleotide variant | NM_000037.4(ANK1):c.1404+15C>T | Hereditary spherocytosis type 1 [RCV000286003]|Spherocytosis [RCV001163229]|not provided [RCV001508242] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41716938 | 41716938 | Human | 3 | name , alternate_id |
| 405130554 | CV3115021 | single nucleotide variant | NM_000037.4(ANK1):c.1602+12C>T | not provided [RCV003815866] | likely benign | 8 | 41715640 | 41715640 | Human | | name |
| 405114180 | CV3115401 | single nucleotide variant | NM_000037.4(ANK1):c.3532+20C>T | not provided [RCV003814083] | likely benign | 8 | 41693878 | 41693878 | Human | | name |
| 405211729 | CV3117811 | single nucleotide variant | NM_000037.4(ANK1):c.1998+20A>T | not provided [RCV003823410] | likely benign | 8 | 41708758 | 41708758 | Human | | name |
| 405185709 | CV3124301 | single nucleotide variant | NM_000037.4(ANK1):c.2558+15C>T | not provided [RCV003820500] | likely benign | 8 | 41699437 | 41699437 | Human | | name |
| 405132028 | CV3133511 | single nucleotide variant | NM_000037.4(ANK1):c.4104+18G>A | Hereditary spherocytosis type 1 [RCV005230587]|not provided [RCV003838481] | likely benign | 8 | 41690209 | 41690209 | Human | 1 | name , alternate_id |
| 405052023 | CV3138336 | single nucleotide variant | NM_000037.4(ANK1):c.2296-18G>T | not provided [RCV003832180] | likely benign | 8 | 41702162 | 41702162 | Human | | name |
| 405225532 | CV3142378 | single nucleotide variant | NM_000037.4(ANK1):c.1602+17C>T | not provided [RCV003847917] | likely benign | 8 | 41715635 | 41715635 | Human | | name |
| 11604804 | CV314318 | microsatellite | NM_000037.4(ANK1):c.*637AC[11] | Spherocytosis, Dominant [RCV000312826] | likely benign | 8 | 41655130 | 41655131 | Human | | name |
| 11635789 | CV314321 | microsatellite | NM_000037.4(ANK1):c.*637AC[14] | Spherocytosis, Dominant [RCV000391716] | uncertain significance | 8 | 41655129 | 41655130 | Human | | name |
| 11662356 | CV314372 | single nucleotide variant | NM_000037.4(ANK1):c.3985-10T>C | Hereditary spherocytosis type 1 [RCV000385452]|Spherocytosis [RCV001161247] | uncertain significance | 8 | 41690356 | 41690356 | Human | 3 | name , alternate_id |
| 11610603 | CV314374 | single nucleotide variant | NM_000037.4(ANK1):c.3533-10G>A | Hereditary spherocytosis type 1 [RCV000383443]|Spherocytosis [RCV001159956]|not provided [RCV000902626] | likely benign|uncertain significance | 8 | 41693211 | 41693211 | Human | 3 | name , alternate_id |
| 11600565 | CV314386 | single nucleotide variant | NM_000037.4(ANK1):c.3984+12C>T | Hereditary spherocytosis type 1 [RCV000274712]|Spherocytosis [RCV001161248]|not provided [RCV003766089] | likely benign|uncertain significance | 8 | 41690462 | 41690462 | Human | 3 | name , alternate_id |
| 11602514 | CV314407 | single nucleotide variant | NM_000037.4(ANK1):c.3532+13C>A | Hereditary spherocytosis type 1 [RCV000291339]|Spherocytosis [RCV001159957]|not provided [RCV002524562] | benign|likely benign|uncertain significance | 8 | 41693885 | 41693885 | Human | 3 | name , alternate_id |
| 11600740 | CV314409 | single nucleotide variant | NM_000037.4(ANK1):c.2735+10G>A | Hereditary spherocytosis type 1 [RCV000276024]|Spherocytosis [RCV001163011]|not provided [RCV000905094] | benign|likely benign|uncertain significance | 8 | 41696666 | 41696666 | Human | 3 | name , alternate_id |
| 11603711 | CV314412 | single nucleotide variant | NM_000037.4(ANK1):c.2097+15C>T | Hereditary spherocytosis type 1 [RCV000302556]|Spherocytosis [RCV001161594]|not provided [RCV002524564] | benign|likely benign|uncertain significance | 8 | 41706128 | 41706128 | Human | 3 | name , alternate_id |
| 405001595 | CV3184056 | single nucleotide variant | NM_000037.4(ANK1):c.1998+18G>A | not provided [RCV003882639] | likely benign | 8 | 41708760 | 41708760 | Human | | name |
| 405277077 | CV3198771 | single nucleotide variant | NM_000037.4(ANK1):c.5097-30C>T | ANK1-related disorder [RCV003904095] | benign | 8 | 41668594 | 41668594 | Human | | name , trait , alternate_id |
| 596930219 | CV3540215 | deletion | NM_000037.4(ANK1):c.428_431del | not provided [RCV004792202] | likely pathogenic | 8 | 41725942 | 41725945 | Human | | name |
| 596947217 | CV3548767 | single nucleotide variant | NM_000037.4(ANK1):c.5544+69C>T | not provided [RCV004811091] | likely benign | 8 | 41661807 | 41661807 | Human | | name |
| 597886978 | CV3741877 | single nucleotide variant | NM_000037.4(ANK1):c.1107+19G>A | not provided [RCV005070597] | likely benign | 8 | 41719642 | 41719642 | Human | | name |
| 597844855 | CV3752675 | single nucleotide variant | NM_000037.4(ANK1):c.2961-11C>T | not provided [RCV005087081] | benign | 8 | 41695342 | 41695342 | Human | | name |
| 598128014 | CV3883030 | single nucleotide variant | NM_000037.4(ANK1):c.1800+13C>T | Hereditary spherocytosis type 1 [RCV005234563] | likely benign | 8 | 41714143 | 41714143 | Human | 1 | name , alternate_id |
| 598128015 | CV3883031 | single nucleotide variant | NM_000037.4(ANK1):c.5544+85C>T | Hereditary spherocytosis type 1 [RCV005234564] | likely benign | 8 | 41661791 | 41661791 | Human | 1 | name , alternate_id |
| 598128018 | CV3883034 | single nucleotide variant | NM_000037.4(ANK1):c.3984+10C>G | Hereditary spherocytosis type 1 [RCV005234567] | likely benign | 8 | 41690464 | 41690464 | Human | 1 | name , alternate_id |
| 15177436 | CV730568 | single nucleotide variant | NM_000037.4(ANK1):c.5544+79C>T | Hereditary spherocytosis type 1 [RCV005231936]|not provided [RCV000884821] | benign|likely benign | 8 | 41661797 | 41661797 | Human | 1 | name , alternate_id |
| 15179633 | CV730569 | single nucleotide variant | NM_000037.4(ANK1):c.5544+59T>A | not provided [RCV000885335] | likely benign | 8 | 41661817 | 41661817 | Human | | name |
| 15128353 | CV775249 | single nucleotide variant | NM_000037.4(ANK1):c.2389-10C>T | Hereditary spherocytosis type 1 [RCV001199186]|not provided [RCV000941704] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41701632 | 41701632 | Human | 1 | name , alternate_id |
| 15174714 | CV779316 | single nucleotide variant | NM_000037.4(ANK1):c.5544+46G>A | Hereditary spherocytosis type 1 [RCV001803179]|not provided [RCV000972775] | benign|likely benign|conflicting interpretations of pathogenicity | 8 | 41661830 | 41661830 | Human | 1 | name , alternate_id |
| 21071718 | CV790800 | duplication | NM_000037.4(ANK1):c.*36+989dup | Hereditary spherocytosis type 1 [RCV000988050] | benign | 8 | 41660439 | 41660440 | Human | 1 | name , alternate_id |
| 21405596 | CV799539 | single nucleotide variant | NM_000037.4(ANK1):c.5479-17T>C | Hereditary spherocytosis type 1 [RCV001000824]|not provided [RCV002068760] | benign|uncertain significance | 8 | 41661958 | 41661958 | Human | 1 | name , alternate_id |
| 28873165 | CV900496 | single nucleotide variant | NM_000037.4(ANK1):c.4104+12C>T | Hereditary spherocytosis type 1 [RCV001164757]|Spherocytosis [RCV001164756] | uncertain significance | 8 | 41690215 | 41690215 | Human | 3 | name , alternate_id |
| 28908153 | CV900497 | single nucleotide variant | NM_000037.4(ANK1):c.3532+10G>T | Hereditary spherocytosis type 1 [RCV001159958]|Spherocytosis [RCV001161360] | uncertain significance | 8 | 41693888 | 41693888 | Human | 3 | name , alternate_id |
| 28869758 | CV900498 | single nucleotide variant | NM_000037.4(ANK1):c.1404+15C>A | Hereditary spherocytosis type 1 [RCV001163230]|Spherocytosis [RCV001163231] | uncertain significance | 8 | 41716938 | 41716938 | Human | 3 | name , alternate_id |
| 40816147 | CV967231 | single nucleotide variant | NM_000037.4(ANK1):c.5097-34C>T | ANK1-related disorder [RCV003908479]|Hereditary spherocytosis type 1 [RCV001258261]|not provided [RCV003433097] | benign|likely benign | 8 | 41668598 | 41668598 | Human | 1 | name , alternate_id |
| 41407383 | CV981629 | single nucleotide variant | NM_000037.4(ANK1):c.3327+21C>G | Hereditary spherocytosis type 1 [RCV001289728]|not provided [RCV001615151] | benign | 8 | 41694571 | 41694571 | Human | 1 | name , alternate_id |
| 41407382 | CV981637 | single nucleotide variant | NM_000037.4(ANK1):c.2296-20C>T | Hereditary spherocytosis type 1 [RCV001289727]|not provided [RCV002070105] | benign | 8 | 41702164 | 41702164 | Human | 1 | name , alternate_id |
| 150474599 | CV1217826 | single nucleotide variant | NM_000037.4(ANK1):c.5394+197G>A | not provided [RCV001615837] | benign | 8 | 41668070 | 41668070 | Human | | name |
| 150456384 | CV1219479 | single nucleotide variant | NM_000037.4(ANK1):c.2559-101T>C | not provided [RCV001612694] | benign | 8 | 41698222 | 41698222 | Human | | name |
| 150503572 | CV1223777 | single nucleotide variant | NM_000037.4(ANK1):c.2461+799A>C | not provided [RCV001621426] | benign | 8 | 41700751 | 41700751 | Human | | name |
| 150513922 | CV1227967 | single nucleotide variant | NM_000037.4(ANK1):c.1702-133A>C | not provided [RCV001638245] | benign | 8 | 41714387 | 41714387 | Human | | name |
| 150434245 | CV1230741 | single nucleotide variant | NM_000037.4(ANK1):c.3116-122C>T | not provided [RCV001643687] | benign | 8 | 41694925 | 41694925 | Human | | name |
| 150450786 | CV1232719 | single nucleotide variant | NM_000037.4(ANK1):c.4105-287C>T | not provided [RCV001647794] | benign | 8 | 41688876 | 41688876 | Human | | name |
| 150455921 | CV1236812 | single nucleotide variant | NM_000037.4(ANK1):c.2559-165T>C | not provided [RCV001648548] | benign | 8 | 41698286 | 41698286 | Human | | name |
| 150487244 | CV1237301 | single nucleotide variant | NM_000037.4(ANK1):c.2559-171G>A | not provided [RCV001654150] | benign | 8 | 41698292 | 41698292 | Human | | name |
| 150479123 | CV1239331 | single nucleotide variant | NM_000037.4(ANK1):c.1405-121C>T | not provided [RCV001652493] | benign | 8 | 41715970 | 41715970 | Human | | name |
| 150502516 | CV1241580 | single nucleotide variant | NM_000037.4(ANK1):c.4104+171T>C | not provided [RCV001657171] | benign | 8 | 41690056 | 41690056 | Human | | name |
| 150484032 | CV1247054 | single nucleotide variant | NM_000037.4(ANK1):c.3858+295C>T | not provided [RCV001673550] | benign | 8 | 41692353 | 41692353 | Human | | name |
| 150447264 | CV1250803 | single nucleotide variant | NM_000037.4(ANK1):c.5544+146A>G | not provided [RCV001667308] | benign | 8 | 41661730 | 41661730 | Human | 1 | name |
| 150462152 | CV1253332 | single nucleotide variant | NM_000037.4(ANK1):c.1206+185C>T | not provided [RCV001669661] | benign | 8 | 41717921 | 41717921 | Human | | name |
| 150478290 | CV1257122 | single nucleotide variant | NM_000037.4(ANK1):c.1702-191T>A | not provided [RCV001672352] | benign | 8 | 41714445 | 41714445 | Human | | name |
| 150472244 | CV1259261 | single nucleotide variant | NM_000037.4(ANK1):c.2637+188C>T | not provided [RCV001684507] | benign | 8 | 41697855 | 41697855 | Human | | name |
| 150476741 | CV1262402 | single nucleotide variant | NM_000037.4(ANK1):c.4537+321T>C | not provided [RCV001685214] | benign | 8 | 41684223 | 41684223 | Human | | name |
| 150477540 | CV1262517 | single nucleotide variant | NM_000037.4(ANK1):c.1107+165T>C | not provided [RCV001685330] | benign | 8 | 41719496 | 41719496 | Human | | name |
| 150476474 | CV1263648 | single nucleotide variant | NM_000037.4(ANK1):c.1306-167T>G | not provided [RCV001685171] | benign | 8 | 41717218 | 41717218 | Human | | name |
| 150460595 | CV1264197 | single nucleotide variant | NM_000037.4(ANK1):c.2558+128G>A | not provided [RCV001682113] | benign | 8 | 41699324 | 41699324 | Human | | name |
| 150439457 | CV1264970 | single nucleotide variant | NM_000037.4(ANK1):c.3859-195G>A | not provided [RCV001678963] | benign | 8 | 41690794 | 41690794 | Human | | name |
| 150490342 | CV1267594 | single nucleotide variant | NM_000037.4(ANK1):c.1207-200T>G | not provided [RCV001687618] | benign | 8 | 41717902 | 41717902 | Human | | name |
| 150492863 | CV1268324 | single nucleotide variant | NM_000037.4(ANK1):c.3328-108C>T | not provided [RCV001688056] | benign | 8 | 41694210 | 41694210 | Human | | name |
| 150457787 | CV1269540 | single nucleotide variant | NM_000037.4(ANK1):c.5097-147C>A | not provided [RCV001693080] | benign | 8 | 41668711 | 41668711 | Human | | name |
| 150448251 | CV1270434 | single nucleotide variant | NM_000037.4(ANK1):c.5395-209G>C | not provided [RCV001691571] | benign | 8 | 41663951 | 41663951 | Human | | name |
| 150473384 | CV1272161 | duplication | NM_000037.4(ANK1):c.5479-326dup | not provided [RCV001695699] | benign | 8 | 41662256 | 41662257 | Human | | name |
| 150474465 | CV1272340 | single nucleotide variant | NM_000037.4(ANK1):c.1800+241G>A | not provided [RCV001695878] | benign | 8 | 41713915 | 41713915 | Human | | name |
| 150464757 | CV1276468 | single nucleotide variant | NM_000037.4(ANK1):c.1404+181G>A | not provided [RCV001710414] | benign | 8 | 41716772 | 41716772 | Human | | name |
| 150451484 | CV1276602 | single nucleotide variant | NM_000037.4(ANK1):c.2295+176C>T | not provided [RCV001708391] | benign | 8 | 41703865 | 41703865 | Human | | name |
| 150454025 | CV1276930 | single nucleotide variant | NM_000037.4(ANK1):c.3859-318G>A | not provided [RCV001708721] | benign | 8 | 41690917 | 41690917 | Human | | name |
| 150475755 | CV1279121 | single nucleotide variant | NM_000037.4(ANK1):c.5394+285C>G | not provided [RCV001713886] | benign | 8 | 41667982 | 41667982 | Human | | name |
| 150490177 | CV1279521 | single nucleotide variant | NM_000037.4(ANK1):c.2637+195A>G | not provided [RCV001716423] | benign | 8 | 41697848 | 41697848 | Human | | name |
| 150491083 | CV1280141 | single nucleotide variant | NM_000037.4(ANK1):c.1701+109T>C | not provided [RCV001716583] | benign | 8 | 41714867 | 41714867 | Human | | name |
| 150437344 | CV1286530 | single nucleotide variant | NM_000037.4(ANK1):c.2461+170A>C | not provided [RCV001724609] | benign | 8 | 41701380 | 41701380 | Human | | name |
| 598124042 | CV3884058 | deletion | NM_000037.4(ANK1):c.25_27+16del | Spherocytosis [RCV005234869] | likely pathogenic | 8 | 41797496 | 41797514 | Human | 2 | name |
| 150428883 | CV1187348 | microsatellite | NM_000037.4(ANK1):c.2390_2393del | ANK1-related disorder [RCV004746425]|Hereditary spherocytosis type 1 [RCV002501908]|not provided [RCV001562855] | pathogenic | 8 | 41701618 | 41701621 | Human | | name , alternate_id |
| 150462990 | CV1234992 | single nucleotide variant | NM_000037.4(ANK1):c.5395-1731T>C | not provided [RCV001649574] | benign | 8 | 41665473 | 41665473 | Human | | name |
| 150484070 | CV1263101 | single nucleotide variant | NM_001142446.2(ANK1):c.126+30G>C | not provided [RCV001686501] | benign | 8 | 41896325 | 41896325 | Human | | name |
| 151349595 | CV1321441 | single nucleotide variant | NM_000037.4(ANK1):c.5395-1157A>T | Hereditary spherocytosis type 1 [RCV001802422] | uncertain significance | 8 | 41664899 | 41664899 | Human | 1 | name , alternate_id |
| 401911476 | CV2800317 | single nucleotide variant | NM_000037.4(ANK1):c.5395-1094C>T | ANK1-related disorder [RCV003399556] | uncertain significance | 8 | 41664836 | 41664836 | Human | | name , trait , alternate_id |
| 401923980 | CV2821053 | single nucleotide variant | NM_000037.4(ANK1):c.5395-1222C>T | not provided [RCV003435472] | likely benign | 8 | 41664964 | 41664964 | Human | | name |
| 405056979 | CV3081261 | single nucleotide variant | NM_000037.4(ANK1):c.5395-1286C>T | ANK1-related disorder [RCV003929345]|Hereditary spherocytosis type 1 [RCV003741132] | benign | 8 | 41665028 | 41665028 | Human | 1 | name , alternate_id |
| 11635795 | CV314308 | duplication | NM_000037.4(ANK1):c.*714_*727dup | Spherocytosis, Dominant [RCV000391721] | uncertain significance | 8 | 41655062 | 41655063 | Human | 1 | name |
| 405261673 | CV3186226 | single nucleotide variant | NM_000037.4(ANK1):c.5395-1209G>A | not provided [RCV003885302] | uncertain significance | 8 | 41664951 | 41664951 | Human | | name |
| 405701162 | CV3225945 | single nucleotide variant | NM_000037.4(ANK1):c.5395-1079G>A | Hereditary spherocytosis type 1 [RCV003989384] | uncertain significance | 8 | 41664821 | 41664821 | Human | 1 | name , alternate_id |
| 408379464 | CV3501035 | single nucleotide variant | NM_000037.4(ANK1):c.129+11381A>G | not provided [RCV004722685] | likely benign | 8 | 41746655 | 41746655 | Human | | name |
| 408393902 | CV3521621 | single nucleotide variant | NM_000037.4(ANK1):c.5395-1085T>G | Hereditary spherocytosis type 1 [RCV004764419] | uncertain significance | 8 | 41664827 | 41664827 | Human | 1 | name , alternate_id |
| 596945736 | CV3548042 | single nucleotide variant | NM_000037.4(ANK1):c.129+11331G>C | not provided [RCV004809373] | benign | 8 | 41746705 | 41746705 | Human | | name |
| 15184546 | CV730570 | single nucleotide variant | NM_000037.4(ANK1):c.5395-1057C>T | Hereditary spherocytosis type 1 [RCV003741228]|not provided [RCV000886474] | likely benign | 8 | 41664799 | 41664799 | Human | 1 | name , alternate_id |
| 15195212 | CV730571 | single nucleotide variant | NM_000037.4(ANK1):c.5395-1080C>T | Hereditary spherocytosis type 1 [RCV002227225]|not provided [RCV000889440] | likely benign|uncertain significance | 8 | 41664822 | 41664822 | Human | 1 | name , alternate_id |
| 15201191 | CV759667 | single nucleotide variant | NM_000037.4(ANK1):c.5395-1238T>G | not provided [RCV000913067] | likely benign | 8 | 41664980 | 41664980 | Human | | name |
| 15194649 | CV759709 | single nucleotide variant | NM_000037.4(ANK1):c.5395-1090G>A | not provided [RCV000911185] | likely benign | 8 | 41664832 | 41664832 | Human | | name |
| 15166303 | CV777707 | single nucleotide variant | NM_000037.4(ANK1):c.5395-1147C>G | ANK1-related disorder [RCV003913264]|Hereditary spherocytosis type 1 [RCV001000549]|not provided [RCV000948803] | benign | 8 | 41664889 | 41664889 | Human | 1 | name , alternate_id |
| 15192004 | CV777758 | single nucleotide variant | NM_000037.4(ANK1):c.5395-1162C>A | Hereditary spherocytosis type 1 [RCV001000825]|not provided [RCV000954941] | benign|likely benign|uncertain significance | 8 | 41664904 | 41664904 | Human | 1 | name , alternate_id |
| 597891812 | CV3785046 | deletion | NM_000037.4(ANK1):c.427-20_430del | not provided [RCV005125825] | likely pathogenic | 8 | 41725943 | 41725966 | Human | | name |
| 243057778 | CV2405588 | duplication | NM_000037.4(ANK1):c.1779_1800+1dup | Hereditary spherocytosis type 1 [RCV003133778] | likely pathogenic | 8 | 41714154 | 41714155 | Human | 1 | name , alternate_id |
| 41405736 | CV981643 | deletion | NM_000037.4(ANK1):c.1702-3_1710del | Hereditary spherocytosis type 1 [RCV001287348] | pathogenic | 8 | 41714246 | 41714257 | Human | 1 | name , alternate_id |
| 42723627 | CV984504 | deletion | NM_000037.4(ANK1):c.612+2_612+6del | not provided [RCV001291602] | likely pathogenic | 8 | 41725755 | 41725759 | Human | | name |
| 150465076 | CV1268549 | microsatellite | NM_000037.4(ANK1):c.1801-158GTTT[5] | not provided [RCV001694245] | benign | 8 | 41709117 | 41709118 | Human | | name |
| 151349973 | CV1321173 | single nucleotide variant | NM_001142446.2(ANK1):c.127-39556C>T | ANK1-related disorder [RCV003941137]|Hereditary spherocytosis type 1 [RCV001803586] | likely benign | 8 | 41797693 | 41797693 | Human | 1 | name , alternate_id |
| 404984215 | CV2851553 | duplication | NM_000037.4(ANK1):c.6dup (p.Tyr3fs) | Hereditary spherocytosis type 1 [RCV003489304] | pathogenic|likely pathogenic | 8 | 41797532 | 41797533 | Human | 1 | name , alternate_id |
| 596930197 | CV3540207 | deletion | NM_000037.4(ANK1):c.3328-14_3336del | not provided [RCV004792194] | likely pathogenic | 8 | 41694094 | 41694116 | Human | | name |
| 15180723 | CV766814 | single nucleotide variant | NM_000037.4(ANK1):c.24C>T (p.Arg8=) | not provided [RCV000929956] | likely benign | 8 | 41797515 | 41797515 | Human | | name |
| 127288060 | CV1152347 | single nucleotide variant | NM_000037.4(ANK1):c.30C>A (p.Ala10=) | not provided [RCV001508251] | uncertain significance | 8 | 41758135 | 41758135 | Human | | name |
| 401923985 | CV2821058 | single nucleotide variant | NM_000037.4(ANK1):c.7T>C (p.Tyr3His) | not provided [RCV003435476] | uncertain significance | 8 | 41797532 | 41797532 | Human | | name |
| 405213532 | CV3078229 | single nucleotide variant | NM_000037.4(ANK1):c.66A>G (p.Ser22=) | not provided [RCV003732336] | likely benign | 8 | 41758099 | 41758099 | Human | | name |
| 597936656 | CV3774550 | deletion | NM_000037.4(ANK1):c.17del (p.Gly6fs) | not provided [RCV005117583] | pathogenic | 8 | 41797522 | 41797522 | Human | | name |
| 13608858 | CV535251 | single nucleotide variant | NM_000037.4(ANK1):c.1A>G (p.Met1Val) | Hereditary spherocytosis type 1 [RCV000655900] | likely pathogenic | 8 | 41797538 | 41797538 | Human | 1 | name , alternate_id |
| 15194172 | CV766813 | single nucleotide variant | NM_000037.4(ANK1):c.96G>C (p.Leu32=) | not provided [RCV000933568] | likely benign | 8 | 41758069 | 41758069 | Human | | name |
| 156123393 | CV2088186 | deletion | NM_000037.4(ANK1):c.40del (p.Thr14fs) | not provided [RCV002871356] | pathogenic | 8 | 41758125 | 41758125 | Human | | name |
| 243052330 | CV2412658 | deletion | NM_000037.4(ANK1):c.86del (p.Leu29fs) | Hereditary spherocytosis type 1 [RCV003131026] | likely pathogenic | 8 | 41758079 | 41758079 | Human | 1 | name , alternate_id |
| 11548067 | CV253142 | single nucleotide variant | NM_000037.4(ANK1):c.237C>T (p.Asn79=) | Hereditary spherocytosis type 1 [RCV000336765]|Spherocytosis [RCV001158833]|not provided [RCV000900022]|not specified [RCV000248603] | benign|likely benign|uncertain significance | 8 | 41727998 | 41727998 | Human | 3 | name , alternate_id |
| 11551230 | CV253143 | single nucleotide variant | NM_000037.4(ANK1):c.183G>C (p.Val61=) | Hereditary spherocytosis type 1 [RCV001000234]|Spherocytosis [RCV001160175]|not provided [RCV002058296]|not specified [RCV000252769] | benign|likely benign | 8 | 41734016 | 41734016 | Human | 3 | name , alternate_id |
| 597873114 | CV3836244 | single nucleotide variant | NM_000037.4(ANK1):c.246G>T (p.Leu82=) | not provided [RCV005177041] | likely benign | 8 | 41727989 | 41727989 | Human | | name |
| 15113334 | CV751157 | single nucleotide variant | NM_000037.4(ANK1):c.117C>T (p.Asn39=) | not provided [RCV000917073] | likely benign | 8 | 41758048 | 41758048 | Human | | name |
| 15113271 | CV766812 | single nucleotide variant | NM_000037.4(ANK1):c.219G>A (p.Thr73=) | not provided [RCV000939093] | likely benign | 8 | 41733980 | 41733980 | Human | | name |
| 150552915 | CV1295588 | single nucleotide variant | NM_000037.4(ANK1):c.31G>A (p.Asp11Asn) | Inborn genetic diseases [RCV005350635]|not provided [RCV001768520] | uncertain significance | 8 | 41758134 | 41758134 | Human | 1 | name |
| 155268320 | CV1701737 | deletion | NM_000037.4(ANK1):c.181del (p.Val61fs) | Hereditary spherocytosis type 1 [RCV002283967] | likely pathogenic | 8 | 41734018 | 41734018 | Human | 1 | name , alternate_id |
| 156381873 | CV1978889 | single nucleotide variant | NM_000037.4(ANK1):c.98G>A (p.Arg33Gln) | not provided [RCV002604023] | uncertain significance | 8 | 41758067 | 41758067 | Human | | name |
| 156245772 | CV2187395 | deletion | NM_000037.4(ANK1):c.165del (p.Gly56fs) | not provided [RCV003059824] | pathogenic | 8 | 41734034 | 41734034 | Human | | name |
| 11544114 | CV253139 | single nucleotide variant | NM_000037.4(ANK1):c.597G>A (p.Pro199=) | Hereditary spherocytosis type 1 [RCV000389220]|Spherocytosis [RCV001163452]|not provided [RCV001709554]|not specified [RCV000243356] | benign|likely benign | 8 | 41725776 | 41725776 | Human | 3 | name , alternate_id |
| 11544841 | CV253140 | single nucleotide variant | NM_000037.4(ANK1):c.450A>G (p.Val150=) | Hereditary spherocytosis type 1 [RCV000349721]|Spherocytosis [RCV001163742]|not provided [RCV001706358]|not specified [RCV000244331] | benign|likely benign | 8 | 41725923 | 41725923 | Human | 3 | name , alternate_id |
| 11542760 | CV253141 | single nucleotide variant | NM_000037.4(ANK1):c.315C>T (p.Asn105=) | Hereditary spherocytosis type 1 [RCV000600895]|Spherocytosis [RCV001158832]|not provided [RCV001689900]|not specified [RCV000241569] | benign|likely benign | 8 | 41727920 | 41727920 | Human | 3 | name , alternate_id |
| 402465969 | CV2913924 | single nucleotide variant | NM_000037.4(ANK1):c.72C>G (p.Asn24Lys) | not provided [RCV003569345] | uncertain significance | 8 | 41758093 | 41758093 | Human | | name |
| 405151712 | CV2959857 | single nucleotide variant | NM_000037.4(ANK1):c.44G>C (p.Ser15Thr) | not provided [RCV003674059] | uncertain significance | 8 | 41758121 | 41758121 | Human | | name |
| 405253527 | CV3048211 | single nucleotide variant | NM_000037.4(ANK1):c.318C>T (p.Ala106=) | not provided [RCV003722572] | likely benign | 8 | 41727917 | 41727917 | Human | | name |
| 11606231 | CV305323 | single nucleotide variant | NM_000037.4(ANK1):c.660C>T (p.Asn220=) | Hereditary spherocytosis type 1 [RCV000329011]|Spherocytosis [RCV001161929] | uncertain significance | 8 | 41724507 | 41724507 | Human | 3 | name , alternate_id |
| 405056997 | CV3081279 | single nucleotide variant | NM_000037.4(ANK1):c.813C>T (p.Asp271=) | Hereditary spherocytosis type 1 [RCV003741134]|not provided [RCV005063156] | benign|likely benign | 8 | 41723221 | 41723221 | Human | 1 | name , alternate_id |
| 405057056 | CV3081375 | single nucleotide variant | NM_000037.4(ANK1):c.327G>A (p.Gln109=) | Hereditary spherocytosis type 1 [RCV003741141] | uncertain significance | 8 | 41727908 | 41727908 | Human | 1 | name , alternate_id |
| 11599465 | CV309163 | single nucleotide variant | NM_000037.4(ANK1):c.669G>A (p.Gln223=) | ANK1-related disorder [RCV003902417]|Hereditary spherocytosis type 1 [RCV000265674]|Spherocytosis [RCV001161928] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41724498 | 41724498 | Human | 3 | name , alternate_id |
| 11611924 | CV309167 | single nucleotide variant | NM_000037.4(ANK1):c.384G>A (p.Lys128=) | Hereditary spherocytosis type 1 [RCV000401118]|Spherocytosis [RCV001158829] | uncertain significance | 8 | 41727292 | 41727292 | Human | 3 | name , alternate_id |
| 11602914 | CV314424 | single nucleotide variant | NM_000037.4(ANK1):c.489C>T (p.Leu163=) | Hereditary spherocytosis type 1 [RCV000294914]|Spherocytosis [RCV001163739]|not provided [RCV000956603] | benign|likely benign | 8 | 41725884 | 41725884 | Human | 3 | name , alternate_id |
| 11608396 | CV314425 | single nucleotide variant | NM_000037.4(ANK1):c.876G>A (p.Leu292=) | ANK1-related disorder [RCV003922633]|Hereditary spherocytosis type 1 [RCV000354387]|Spherocytosis [RCV001165445]|not provided [RCV000921435] | likely benign|uncertain significance | 8 | 41723158 | 41723158 | Human | 3 | name , alternate_id |
| 11608851 | CV314426 | single nucleotide variant | NM_000037.4(ANK1):c.675C>T (p.Leu225=) | Hereditary spherocytosis type 1 [RCV000360351]|Spherocytosis [RCV001158721]|not provided [RCV000913208] | benign|likely benign|uncertain significance | 8 | 41724492 | 41724492 | Human | 3 | name , alternate_id |
| 405221011 | CV3154697 | single nucleotide variant | NM_000037.4(ANK1):c.391C>T (p.Leu131=) | not provided [RCV003847192] | likely benign | 8 | 41727285 | 41727285 | Human | | name |
| 405254080 | CV3174968 | single nucleotide variant | NM_000037.4(ANK1):c.41C>G (p.Thr14Ser) | not provided [RCV003871420] | uncertain significance | 8 | 41758124 | 41758124 | Human | | name |
| 405260248 | CV3190358 | single nucleotide variant | NM_000037.4(ANK1):c.714C>T (p.Asn238=) | ANK1-related disorder [RCV003894753] | likely benign | 8 | 41723631 | 41723631 | Human | | name , trait , alternate_id |
| 405294279 | CV3214791 | single nucleotide variant | NM_000037.4(ANK1):c.708A>G (p.Pro236=) | ANK1-related disorder [RCV003934208] | likely benign | 8 | 41724459 | 41724459 | Human | | name , trait , alternate_id |
| 15151377 | CV711533 | single nucleotide variant | NM_000037.4(ANK1):c.690C>G (p.Ala230=) | ANK1-related disorder [RCV003962844]|not provided [RCV000968125] | likely benign | 8 | 41724477 | 41724477 | Human | 1 | name , alternate_id |
| 15181444 | CV723095 | single nucleotide variant | NM_000037.4(ANK1):c.981C>T (p.Tyr327=) | Hereditary spherocytosis type 1 [RCV001804049]|not provided [RCV000885769] | benign|likely benign | 8 | 41719787 | 41719787 | Human | 1 | name , alternate_id |
| 15172651 | CV736659 | single nucleotide variant | NM_000037.4(ANK1):c.882C>T (p.His294=) | not provided [RCV000905710] | likely benign | 8 | 41723152 | 41723152 | Human | | name |
| 15188453 | CV736660 | single nucleotide variant | NM_000037.4(ANK1):c.624G>A (p.Thr208=) | not provided [RCV000909373] | likely benign | 8 | 41724543 | 41724543 | Human | | name |
| 15144393 | CV751153 | single nucleotide variant | NM_000037.4(ANK1):c.912C>T (p.Asn304=) | Hereditary spherocytosis type 1 [RCV005231967]|not provided [RCV000922360] | likely benign | 8 | 41719856 | 41719856 | Human | 1 | name , alternate_id |
| 15198317 | CV751154 | single nucleotide variant | NM_000037.4(ANK1):c.483G>A (p.Ala161=) | ANK1-related disorder [RCV003933000]|Hereditary spherocytosis type 1 [RCV001163741]|Spherocytosis [RCV001163740]|not provided [RCV000912225] | benign|likely benign|uncertain significance | 8 | 41725890 | 41725890 | Human | 3 | name , alternate_id |
| 15198708 | CV751155 | single nucleotide variant | NM_000037.4(ANK1):c.447G>T (p.Ala149=) | Hereditary spherocytosis type 1 [RCV001163744]|Spherocytosis [RCV001163743]|not provided [RCV000912337] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41725926 | 41725926 | Human | 3 | name , alternate_id |
| 15127134 | CV751156 | single nucleotide variant | NM_000037.4(ANK1):c.303A>T (p.Gly101=) | not provided [RCV000919446] | likely benign | 8 | 41727932 | 41727932 | Human | | name |
| 15136883 | CV766811 | single nucleotide variant | NM_000037.4(ANK1):c.723G>A (p.Thr241=) | not provided [RCV000943148] | likely benign | 8 | 41723622 | 41723622 | Human | | name |
| 15106381 | CV783107 | single nucleotide variant | NM_000037.4(ANK1):c.438G>T (p.Thr146=) | not provided [RCV000976621] | likely benign | 8 | 41725935 | 41725935 | Human | | name |
| 28869998 | CV899600 | single nucleotide variant | NM_000037.4(ANK1):c.964C>A (p.Arg322=) | Hereditary spherocytosis type 1 [RCV001163349]|Spherocytosis [RCV001163348] | uncertain significance | 8 | 41719804 | 41719804 | Human | 3 | name , alternate_id |
| 28905964 | CV899602 | single nucleotide variant | NM_000037.4(ANK1):c.801C>T (p.Thr267=) | Hereditary spherocytosis type 1 [RCV001158717]|Spherocytosis [RCV001158716] | uncertain significance | 8 | 41723544 | 41723544 | Human | 3 | name , alternate_id |
| 28870252 | CV899604 | single nucleotide variant | NM_000037.4(ANK1):c.528C>T (p.Ala176=) | Hereditary spherocytosis type 1 [RCV001163453]|Spherocytosis [RCV001163454] | likely benign|uncertain significance | 8 | 41725845 | 41725845 | Human | 3 | name , alternate_id |
| 41405707 | CV981647 | single nucleotide variant | NM_000037.4(ANK1):c.639G>A (p.Ala213=) | Hereditary spherocytosis type 1 [RCV001287256] | uncertain significance | 8 | 41724528 | 41724528 | Human | 1 | name , alternate_id |
| 127289635 | CV1152338 | single nucleotide variant | NM_000037.4(ANK1):c.1998G>A (p.Lys666=) | not provided [RCV001509347] | uncertain significance | 8 | 41708778 | 41708778 | Human | | name |
| 127288058 | CV1152346 | single nucleotide variant | NM_000037.4(ANK1):c.224C>T (p.Thr75Ile) | not provided [RCV001508250] | uncertain significance | 8 | 41733975 | 41733975 | Human | | name |
| 150548146 | CV1314170 | deletion | NM_000037.4(ANK1):c.725del (p.Pro242fs) | Hereditary spherocytosis type 1 [RCV001785923] | likely pathogenic | 8 | 41723620 | 41723620 | Human | 1 | name , alternate_id |
| 151349673 | CV1321572 | single nucleotide variant | NM_000037.4(ANK1):c.2352C>T (p.Asp784=) | Hereditary spherocytosis type 1 [RCV001802554] | likely benign | 8 | 41702088 | 41702088 | Human | 1 | name , alternate_id |
| 155644215 | CV1668584 | deletion | NM_000037.4(ANK1):c.886del (p.Ala296fs) | Hereditary spherocytosis type 1 [RCV002291014] | pathogenic | 8 | 41723148 | 41723148 | Human | 1 | name , alternate_id |
| 155264714 | CV1704275 | deletion | NM_000037.4(ANK1):c.682del (p.Arg228fs) | not provided [RCV002284329] | likely pathogenic | 8 | 41724485 | 41724485 | Human | | name |
| 156004821 | CV1906325 | single nucleotide variant | NM_000037.4(ANK1):c.2085C>T (p.Asp695=) | not provided [RCV003098976] | likely benign | 8 | 41706155 | 41706155 | Human | | name |
| 156264381 | CV1960793 | single nucleotide variant | NM_000037.4(ANK1):c.2883G>A (p.Thr961=) | not provided [RCV002576954] | likely benign | 8 | 41696440 | 41696440 | Human | | name |
| 156288171 | CV2058249 | deletion | NM_000037.4(ANK1):c.629del (p.Leu210fs) | not provided [RCV002833089] | pathogenic | 8 | 41724538 | 41724538 | Human | | name |
| 156162001 | CV2096923 | single nucleotide variant | NM_000037.4(ANK1):c.202G>T (p.Glu68Ter) | not provided [RCV002872695] | pathogenic | 8 | 41733997 | 41733997 | Human | | name |
| 156345307 | CV2120950 | single nucleotide variant | NM_000037.4(ANK1):c.1383C>T (p.Ala461=) | not provided [RCV002939134] | likely benign | 8 | 41716974 | 41716974 | Human | | name |
| 156284554 | CV2134039 | single nucleotide variant | NM_000037.4(ANK1):c.1660C>T (p.Leu554=) | not provided [RCV003009718] | likely benign | 8 | 41715017 | 41715017 | Human | | name |
| 155981407 | CV2140472 | single nucleotide variant | NM_000037.4(ANK1):c.2202A>G (p.Gly734=) | not provided [RCV002996119] | likely benign | 8 | 41704134 | 41704134 | Human | | name |
| 156190369 | CV2165948 | deletion | NM_000037.4(ANK1):c.389del (p.Leu130fs) | not provided [RCV003041629] | pathogenic | 8 | 41727287 | 41727287 | Human | | name |
| 155995214 | CV2171526 | duplication | NM_000037.4(ANK1):c.390dup (p.Leu131fs) | not provided [RCV003034513] | pathogenic | 8 | 41727285 | 41727286 | Human | | name |
| 156181355 | CV2246207 | single nucleotide variant | NM_000037.4(ANK1):c.292G>A (p.Val98Ile) | Inborn genetic diseases [RCV002802297] | uncertain significance | 8 | 41727943 | 41727943 | Human | 1 | name |
| 156396700 | CV2330222 | single nucleotide variant | NM_000037.4(ANK1):c.142G>A (p.Gly48Ser) | Inborn genetic diseases [RCV002945049] | uncertain significance | 8 | 41734057 | 41734057 | Human | 1 | name |
| 156144015 | CV2393640 | single nucleotide variant | NM_000037.4(ANK1):c.284G>A (p.Arg95Gln) | Inborn genetic diseases [RCV002763709] | uncertain significance | 8 | 41727951 | 41727951 | Human | 1 | name |
| 156448788 | CV2402200 | single nucleotide variant | NM_000037.4(ANK1):c.2637G>A (p.Gln879=) | Hereditary spherocytosis type 1 [RCV003120359] | uncertain significance | 8 | 41698043 | 41698043 | Human | 1 | name , alternate_id |
| 243063310 | CV2411649 | single nucleotide variant | NM_000037.4(ANK1):c.253G>T (p.Ala85Ser) | Hereditary spherocytosis type 1 [RCV003141372] | uncertain significance | 8 | 41727982 | 41727982 | Human | 1 | name , alternate_id |
| 243063313 | CV2411652 | single nucleotide variant | NM_000037.4(ANK1):c.253G>A (p.Ala85Thr) | Hereditary spherocytosis type 1 [RCV003141375] | uncertain significance | 8 | 41727982 | 41727982 | Human | 1 | name , alternate_id |
| 243063319 | CV2411658 | single nucleotide variant | NM_000037.4(ANK1):c.283C>T (p.Arg95Trp) | Hereditary spherocytosis type 1 [RCV003141381] | uncertain significance | 8 | 41727952 | 41727952 | Human | 1 | name , alternate_id |
| 243063322 | CV2411661 | single nucleotide variant | NM_000037.4(ANK1):c.242C>A (p.Ala81Asp) | Hereditary spherocytosis type 1 [RCV003141384] | uncertain significance | 8 | 41727993 | 41727993 | Human | 1 | name , alternate_id |
| 243063338 | CV2411678 | single nucleotide variant | NM_000037.4(ANK1):c.247C>T (p.His83Tyr) | Hereditary spherocytosis type 1 [RCV003141401] | uncertain significance | 8 | 41727988 | 41727988 | Human | 1 | name , alternate_id |
| 243063349 | CV2411690 | single nucleotide variant | NM_000037.4(ANK1):c.265G>A (p.Gly89Arg) | Hereditary spherocytosis type 1 [RCV003141413] | uncertain significance | 8 | 41727970 | 41727970 | Human | 1 | name , alternate_id |
| 243057875 | CV2412608 | deletion | NM_000037.4(ANK1):c.557del (p.Thr186fs) | Hereditary spherocytosis type 1 [RCV003135354] | likely pathogenic | 8 | 41725816 | 41725816 | Human | 1 | name , alternate_id |
| 11551717 | CV253125 | single nucleotide variant | NM_000037.4(ANK1):c.2913G>C (p.Leu971=) | Hereditary spherocytosis type 1 [RCV000604238]|Spherocytosis [RCV001161487]|not provided [RCV002058297]|not specified [RCV000253390] | benign|likely benign | 8 | 41696410 | 41696410 | Human | 3 | name , alternate_id |
| 11546008 | CV253126 | single nucleotide variant | NM_000037.4(ANK1):c.2349C>T (p.Thr783=) | Hereditary spherocytosis type 1 [RCV000612375]|Spherocytosis [RCV001158386]|not provided [RCV001689899]|not specified [RCV000245902] | benign|likely benign | 8 | 41702091 | 41702091 | Human | 3 | name , alternate_id |
| 11548328 | CV253128 | single nucleotide variant | NM_000037.4(ANK1):c.2073C>T (p.Gly691=) | Hereditary spherocytosis type 1 [RCV000393967]|Spherocytosis [RCV001161596]|not provided [RCV001668570]|not specified [RCV000248946] | benign|likely benign | 8 | 41706167 | 41706167 | Human | 3 | name , alternate_id |
| 11548847 | CV253130 | single nucleotide variant | NM_000037.4(ANK1):c.1782C>A (p.Ser594=) | Hereditary spherocytosis type 1 [RCV000755809]|Spherocytosis [RCV001163126]|not provided [RCV002058295]|not specified [RCV000249630] | benign|likely benign | 8 | 41714174 | 41714174 | Human | 14 | name , alternate_id |
| 11548847 | CV253130 | single nucleotide variant | NM_000037.4(ANK1):c.1782C>A (p.Ser594=) | Hereditary spherocytosis type 1 [RCV000755809]|Spherocytosis [RCV001163126]|not provided [RCV002058295]|not specified [RCV000249630] | benign|likely benign | 8 | 41714174 | 41714175 | Human | 14 | name , alternate_id |
| 11544947 | CV253131 | single nucleotide variant | NM_000037.4(ANK1):c.1686G>A (p.Pro562=) | not specified [RCV000244477] | likely benign | 8 | 41714991 | 41714991 | Human | | name |
| 11551158 | CV253132 | single nucleotide variant | NM_000037.4(ANK1):c.1590C>T (p.Ala530=) | Hereditary spherocytosis type 1 [RCV000319695]|Spherocytosis [RCV001165205]|not provided [RCV000970680]|not specified [RCV000252683] | benign|likely benign|uncertain significance | 8 | 41715664 | 41715664 | Human | 3 | name , alternate_id |
| 11546632 | CV253133 | single nucleotide variant | NM_000037.4(ANK1):c.1506C>T (p.Ala502=) | Hereditary spherocytosis type 1 [RCV001158497]|Spherocytosis [RCV001158496]|not provided [RCV000879423]|not specified [RCV000246717] | benign|likely benign|uncertain significance | 8 | 41715748 | 41715748 | Human | 3 | name , alternate_id |
| 11550104 | CV253135 | single nucleotide variant | NM_000037.4(ANK1):c.1320G>A (p.Pro440=) | Hereditary spherocytosis type 1 [RCV000291118]|Spherocytosis [RCV001165327]|not provided [RCV002058294]|not specified [RCV000251294] | benign|likely benign | 8 | 41717037 | 41717037 | Human | 3 | name , alternate_id |
| 401909226 | CV2803880 | deletion | NM_000037.4(ANK1):c.530del (p.Leu177fs) | ANK1-related disorder [RCV003397803] | likely pathogenic | 8 | 41725843 | 41725843 | Human | | name , trait , alternate_id |
| 401923984 | CV2821057 | single nucleotide variant | NM_000037.4(ANK1):c.1270C>T (p.Leu424=) | not provided [RCV003435475] | likely benign | 8 | 41717639 | 41717639 | Human | | name |
| 401940365 | CV2839217 | deletion | NM_000037.4(ANK1):c.970del (p.Leu324fs) | Hereditary spherocytosis type 1 [RCV003448775] | likely pathogenic | 8 | 41719798 | 41719798 | Human | 1 | name , alternate_id |
| 401961022 | CV2844426 | deletion | NM_000037.4(ANK1):c.533del (p.His178fs) | not provided [RCV003480221] | likely pathogenic | 8 | 41725840 | 41725840 | Human | | name |
| 404984464 | CV2851548 | duplication | NM_000037.4(ANK1):c.500dup (p.Thr168fs) | Hereditary spherocytosis type 1 [RCV003489299] | likely pathogenic | 8 | 41725872 | 41725873 | Human | 1 | name , alternate_id |
| 405200053 | CV2877106 | deletion | NM_000037.4(ANK1):c.312del (p.Asn105fs) | not provided [RCV003551297] | pathogenic | 8 | 41727923 | 41727923 | Human | | name |
| 405220714 | CV2965952 | single nucleotide variant | NM_000037.4(ANK1):c.1890C>T (p.Ala630=) | not provided [RCV003680637] | likely benign | 8 | 41708886 | 41708886 | Human | | name |
| 405082535 | CV3017031 | single nucleotide variant | NM_000037.4(ANK1):c.2226C>G (p.Ala742=) | not provided [RCV003699152] | likely benign | 8 | 41704110 | 41704110 | Human | | name |
| 11606398 | CV305302 | single nucleotide variant | NM_000037.4(ANK1):c.2601T>C (p.Pro867=) | Hereditary spherocytosis type 1 [RCV000331022]|Spherocytosis [RCV001163014] | uncertain significance | 8 | 41698079 | 41698079 | Human | 3 | name , alternate_id |
| 11601387 | CV305304 | single nucleotide variant | NM_000037.4(ANK1):c.2403G>A (p.Lys801=) | Hereditary spherocytosis type 1 [RCV000281838]|Spherocytosis [RCV001165100]|not provided [RCV000755810] | benign|likely benign|uncertain significance | 8 | 41701608 | 41701608 | Human | 3 | name , alternate_id |
| 11606881 | CV305308 | single nucleotide variant | NM_000037.4(ANK1):c.2370G>T (p.Thr790=) | Hereditary spherocytosis type 1 [RCV000336833]|Spherocytosis [RCV001165101] | likely benign|uncertain significance | 8 | 41702070 | 41702070 | Human | 3 | name , alternate_id |
| 11649478 | CV305310 | single nucleotide variant | NM_000037.4(ANK1):c.1179G>A (p.Thr393=) | Hereditary spherocytosis type 1 [RCV000287452]|Spherocytosis [RCV001158606] | uncertain significance | 8 | 41718133 | 41718133 | Human | 3 | name , alternate_id |
| 405057089 | CV3081461 | single nucleotide variant | NM_000037.4(ANK1):c.1659G>A (p.Glu553=) | Hereditary spherocytosis type 1 [RCV003741145] | likely benign | 8 | 41715018 | 41715018 | Human | 1 | name , alternate_id |
| 11612068 | CV309121 | single nucleotide variant | NM_000037.4(ANK1):c.1824C>T (p.Ile608=) | ANK1-related disorder [RCV003922632]|Hereditary spherocytosis type 1 [RCV000403576]|Spherocytosis [RCV001163125] | likely benign|uncertain significance | 8 | 41708952 | 41708952 | Human | 3 | name , alternate_id |
| 11608506 | CV309152 | single nucleotide variant | NM_000037.4(ANK1):c.1563C>T (p.Ala521=) | Hereditary spherocytosis type 1 [RCV000355865]|Spherocytosis [RCV001158491]|not provided [RCV000900127] | likely benign|uncertain significance | 8 | 41715691 | 41715691 | Human | 3 | name , alternate_id |
| 11605661 | CV309159 | single nucleotide variant | NM_000037.4(ANK1):c.1350G>A (p.Thr450=) | Hereditary spherocytosis type 1 [RCV000322301]|Spherocytosis [RCV001165325]|not provided [RCV005055934] | likely benign|uncertain significance | 8 | 41717007 | 41717007 | Human | 3 | name , alternate_id |
| 405007834 | CV3118260 | single nucleotide variant | NM_000037.4(ANK1):c.1695C>T (p.Ala565=) | not provided [RCV003828690] | likely benign | 8 | 41714982 | 41714982 | Human | | name |
| 405182593 | CV3120014 | single nucleotide variant | NM_000037.4(ANK1):c.2691G>A (p.Glu897=) | not provided [RCV003820107] | likely benign | 8 | 41696720 | 41696720 | Human | | name |
| 405021146 | CV3139214 | single nucleotide variant | NM_000037.4(ANK1):c.1944A>G (p.Ala648=) | not provided [RCV003829856] | likely benign | 8 | 41708832 | 41708832 | Human | | name |
| 405144603 | CV3141440 | single nucleotide variant | NM_000037.4(ANK1):c.2898C>T (p.Ala966=) | ANK1-related disorder [RCV003939227]|not provided [RCV003839557] | likely benign | 8 | 41696425 | 41696425 | Human | 1 | name , alternate_id |
| 11611015 | CV314388 | single nucleotide variant | NM_000037.4(ANK1):c.2835G>A (p.Ala945=) | Hereditary spherocytosis type 1 [RCV000389156]|Spherocytosis [RCV001161488] | uncertain significance | 8 | 41696488 | 41696488 | Human | 3 | name , alternate_id |
| 11600952 | CV314390 | single nucleotide variant | NM_000037.4(ANK1):c.2211C>G (p.Pro737=) | Hereditary spherocytosis type 1 [RCV001000233]|not provided [RCV000880725] | benign|likely benign | 8 | 41704125 | 41704125 | Human | 1 | name , alternate_id |
| 11604340 | CV314399 | single nucleotide variant | NM_000037.4(ANK1):c.1926C>T (p.Ala642=) | Hereditary spherocytosis type 1 [RCV000308341]|Spherocytosis [RCV001163122]|not provided [RCV002524565] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41708850 | 41708850 | Human | 3 | name , alternate_id |
| 11598954 | CV314400 | single nucleotide variant | NM_000037.4(ANK1):c.1503C>T (p.Thr501=) | Hereditary spherocytosis type 1 [RCV000261396]|Spherocytosis [RCV001161702]|not provided [RCV005090602] | likely benign|uncertain significance | 8 | 41715751 | 41715751 | Human | 3 | name , alternate_id |
| 11611692 | CV314410 | single nucleotide variant | NM_000037.4(ANK1):c.1203C>T (p.Thr401=) | Hereditary spherocytosis type 1 [RCV000398433]|Spherocytosis [RCV001165330]|not provided [RCV000916901] | benign|likely benign|uncertain significance | 8 | 41718109 | 41718109 | Human | 3 | name , alternate_id |
| 11612338 | CV314413 | single nucleotide variant | NM_000037.4(ANK1):c.1131C>A (p.Ile377=) | Hereditary spherocytosis type 1 [RCV000407152]|Spherocytosis [RCV001161825] | uncertain significance | 8 | 41718181 | 41718181 | Human | 3 | name , alternate_id |
| 405259241 | CV3194594 | single nucleotide variant | NM_000037.4(ANK1):c.1527T>A (p.Ile509=) | ANK1-related disorder [RCV003893988] | likely benign | 8 | 41715727 | 41715727 | Human | | name , trait , alternate_id |
| 405284603 | CV3196950 | single nucleotide variant | NM_000037.4(ANK1):c.1446C>T (p.His482=) | ANK1-related disorder [RCV003979795] | likely benign | 8 | 41715808 | 41715808 | Human | | name , trait , alternate_id |
| 405267514 | CV3198408 | single nucleotide variant | NM_000037.4(ANK1):c.1686G>C (p.Pro562=) | ANK1-related disorder [RCV003911778] | likely benign | 8 | 41714991 | 41714991 | Human | | name , trait , alternate_id |
| 405295353 | CV3209367 | single nucleotide variant | NM_000037.4(ANK1):c.1962G>C (p.Leu654=) | ANK1-related disorder [RCV003937252] | likely benign | 8 | 41708814 | 41708814 | Human | | name , trait , alternate_id |
| 405278897 | CV3212690 | single nucleotide variant | NM_000037.4(ANK1):c.2757T>A (p.Val919=) | ANK1-related disorder [RCV003954717] | likely benign | 8 | 41696566 | 41696566 | Human | | name , trait , alternate_id |
| 405809110 | CV3287407 | single nucleotide variant | NM_000037.4(ANK1):c.124A>T (p.Asn42Tyr) | Inborn genetic diseases [RCV004407369] | uncertain significance | 8 | 41758041 | 41758041 | Human | 1 | name |
| 407490798 | CV3416866 | single nucleotide variant | NM_000037.4(ANK1):c.248A>C (p.His83Pro) | Hereditary spherocytosis type 1 [RCV004666694] | uncertain significance | 8 | 41727987 | 41727987 | Human | 1 | name , alternate_id |
| 408371215 | CV3504876 | deletion | NM_000037.4(ANK1):c.925del (p.Ile309fs) | ANK1-related disorder [RCV004724507] | likely pathogenic | 8 | 41719843 | 41719843 | Human | | name , trait , alternate_id |
| 408374719 | CV3517990 | single nucleotide variant | NM_000037.4(ANK1):c.1722C>T (p.His574=) | ANK1-related disorder [RCV004747011] | likely benign | 8 | 41714234 | 41714234 | Human | | name , trait , alternate_id |
| 596930216 | CV3540214 | deletion | NM_000037.4(ANK1):c.473del (p.Asn158fs) | not provided [RCV004792201] | likely pathogenic | 8 | 41725900 | 41725900 | Human | | name |
| 596944661 | CV3543281 | deletion | NM_000037.4(ANK1):c.966del (p.Leu323fs) | Spherocytosis [RCV004799153] | pathogenic | 8 | 41719802 | 41719802 | Human | 2 | name |
| 597647185 | CV3551564 | single nucleotide variant | NM_000037.4(ANK1):c.274G>T (p.Glu92Ter) | Hereditary spherocytosis type 1 [RCV004819941] | pathogenic | 8 | 41727961 | 41727961 | Human | 1 | name , alternate_id |
| 597702061 | CV3701739 | single nucleotide variant | NM_000037.4(ANK1):c.203A>T (p.Glu68Val) | Inborn genetic diseases [RCV004988174] | uncertain significance | 8 | 41733996 | 41733996 | Human | 1 | name |
| 597959317 | CV3752273 | single nucleotide variant | NM_000037.4(ANK1):c.2247C>T (p.Ile749=) | not provided [RCV005081223] | likely benign | 8 | 41704089 | 41704089 | Human | | name |
| 597947750 | CV3758999 | single nucleotide variant | NM_000037.4(ANK1):c.2205C>T (p.Tyr735=) | not provided [RCV005078795] | likely benign | 8 | 41704131 | 41704131 | Human | | name |
| 597923713 | CV3772468 | single nucleotide variant | NM_000037.4(ANK1):c.199A>T (p.Lys67Ter) | not provided [RCV005115618] | pathogenic | 8 | 41734000 | 41734000 | Human | | name |
| 597925160 | CV3772636 | single nucleotide variant | NM_000037.4(ANK1):c.152T>C (p.Leu51Pro) | not provided [RCV005115786] | uncertain significance | 8 | 41734047 | 41734047 | Human | | name |
| 597954971 | CV3786793 | deletion | NM_000037.4(ANK1):c.934del (p.Ala312fs) | not provided [RCV005121885] | pathogenic | 8 | 41719834 | 41719834 | Human | | name |
| 597931389 | CV3789465 | deletion | NM_000037.4(ANK1):c.816del (p.Glu272fs) | not provided [RCV005131746] | pathogenic | 8 | 41723218 | 41723218 | Human | | name |
| 597961971 | CV3795325 | single nucleotide variant | NM_000037.4(ANK1):c.277G>T (p.Val93Leu) | not provided [RCV005139017] | uncertain significance | 8 | 41727958 | 41727958 | Human | | name |
| 597916628 | CV3811005 | single nucleotide variant | NM_000037.4(ANK1):c.1008G>A (p.Leu336=) | not provided [RCV005155040] | likely benign | 8 | 41719760 | 41719760 | Human | | name |
| 597968694 | CV3821013 | single nucleotide variant | NM_000037.4(ANK1):c.2250G>T (p.Val750=) | not provided [RCV005165854] | likely benign | 8 | 41704086 | 41704086 | Human | | name |
| 597905235 | CV3853093 | single nucleotide variant | NM_000037.4(ANK1):c.2268C>T (p.Asn756=) | not provided [RCV005202750] | likely benign | 8 | 41704068 | 41704068 | Human | | name |
| 598127986 | CV3883005 | single nucleotide variant | NM_000037.4(ANK1):c.2283C>T (p.Asn761=) | Hereditary spherocytosis type 1 [RCV005234538] | likely benign | 8 | 41704053 | 41704053 | Human | 1 | name , alternate_id |
| 598128137 | CV3883156 | single nucleotide variant | NM_000037.4(ANK1):c.1717C>T (p.Leu573=) | Hereditary spherocytosis type 1 [RCV005234689] | likely benign | 8 | 41714239 | 41714239 | Human | 1 | name , alternate_id |
| 617149308 | CV4021482 | single nucleotide variant | NM_000037.4(ANK1):c.2004A>G (p.Gly668=) | not provided [RCV005425451] | likely benign | 8 | 41706236 | 41706236 | Human | | name |
| 13608860 | CV535250 | deletion | NM_000037.4(ANK1):c.534del (p.His178fs) | Hereditary spherocytosis type 1 [RCV000655901] | pathogenic | 8 | 41725839 | 41725839 | Human | 1 | name , alternate_id |
| 15134130 | CV711530 | single nucleotide variant | NM_000037.4(ANK1):c.2970C>T (p.Ile990=) | Hereditary spherocytosis type 1 [RCV001286492]|not provided [RCV000965074] | benign | 8 | 41695322 | 41695322 | Human | 1 | name , alternate_id |
| 15149931 | CV711531 | single nucleotide variant | NM_000037.4(ANK1):c.2826G>A (p.Thr942=) | ANK1-related disorder [RCV003943163]|Hereditary spherocytosis type 1 [RCV003741238]|not provided [RCV000967846] | benign|likely benign | 8 | 41696497 | 41696497 | Human | 1 | name , alternate_id |
| 15151371 | CV711532 | single nucleotide variant | NM_000037.4(ANK1):c.1896G>A (p.Ser632=) | ANK1-related disorder [RCV003962843]|not provided [RCV000968124] | likely benign | 8 | 41708880 | 41708880 | Human | 1 | name , alternate_id |
| 15177439 | CV723089 | single nucleotide variant | NM_000037.4(ANK1):c.2844C>T (p.Arg948=) | ANK1-related disorder [RCV003948355]|Hereditary spherocytosis type 1 [RCV003741227]|not provided [RCV000884822] | likely benign | 8 | 41696479 | 41696479 | Human | 1 | name , alternate_id |
| 15156420 | CV723090 | single nucleotide variant | NM_000037.4(ANK1):c.2745G>A (p.Val915=) | Hereditary spherocytosis type 1 [RCV003117632]|not provided [RCV000880623] | benign|likely benign|conflicting interpretations of pathogenicity | 8 | 41696578 | 41696578 | Human | 1 | name , alternate_id |
| 15169447 | CV723092 | single nucleotide variant | NM_000037.4(ANK1):c.1467G>A (p.Leu489=) | Hereditary spherocytosis type 1 [RCV001804044]|not provided [RCV000883268] | benign|likely benign | 8 | 41715787 | 41715787 | Human | 1 | name , alternate_id |
| 15168509 | CV723094 | single nucleotide variant | NM_000037.4(ANK1):c.1227C>T (p.His409=) | not provided [RCV000883080] | likely benign | 8 | 41717682 | 41717682 | Human | | name |
| 15173540 | CV736651 | single nucleotide variant | NM_000037.4(ANK1):c.2799C>A (p.Gly933=) | not provided [RCV000905862] | likely benign | 8 | 41696524 | 41696524 | Human | | name |
| 15140232 | CV736652 | single nucleotide variant | NM_000037.4(ANK1):c.2796C>T (p.Asn932=) | not provided [RCV000899283] | likely benign | 8 | 41696527 | 41696527 | Human | | name |
| 15176654 | CV736653 | single nucleotide variant | NM_000037.4(ANK1):c.2688C>G (p.Thr896=) | not provided [RCV000906477] | likely benign | 8 | 41696723 | 41696723 | Human | | name |
| 15132456 | CV736654 | single nucleotide variant | NM_000037.4(ANK1):c.2589C>T (p.Pro863=) | Hereditary spherocytosis type 1 [RCV001165097]|Spherocytosis [RCV001165098]|not provided [RCV000897960] | benign|likely benign|uncertain significance | 8 | 41698091 | 41698091 | Human | 3 | name , alternate_id |
| 15172734 | CV736655 | single nucleotide variant | NM_000037.4(ANK1):c.2520G>A (p.Glu840=) | not provided [RCV000905727] | likely benign | 8 | 41699490 | 41699490 | Human | | name |
| 15136483 | CV736657 | single nucleotide variant | NM_000037.4(ANK1):c.1359C>T (p.Ala453=) | not provided [RCV000898635] | likely benign | 8 | 41716998 | 41716998 | Human | | name |
| 15121167 | CV736658 | single nucleotide variant | NM_000037.4(ANK1):c.1257C>T (p.Ile419=) | not provided [RCV000896013] | likely benign | 8 | 41717652 | 41717652 | Human | | name |
| 15199825 | CV751148 | single nucleotide variant | NM_000037.4(ANK1):c.2982G>A (p.Pro994=) | Hereditary spherocytosis type 1 [RCV001160074]|Spherocytosis [RCV001160075]|not provided [RCV000912664] | likely benign|uncertain significance | 8 | 41695310 | 41695310 | Human | 3 | name , alternate_id |
| 15140770 | CV751149 | single nucleotide variant | NM_000037.4(ANK1):c.1968G>A (p.Ser656=) | not provided [RCV000921731] | likely benign | 8 | 41708808 | 41708808 | Human | | name |
| 15125579 | CV751150 | single nucleotide variant | NM_000037.4(ANK1):c.1728C>T (p.Ala576=) | not provided [RCV000919182] | likely benign | 8 | 41714228 | 41714228 | Human | | name |
| 15117440 | CV751151 | single nucleotide variant | NM_000037.4(ANK1):c.1341C>T (p.Ala447=) | not provided [RCV000917795] | likely benign | 8 | 41717016 | 41717016 | Human | | name |
| 15106087 | CV751152 | single nucleotide variant | NM_000037.4(ANK1):c.1293C>T (p.Asn431=) | not provided [RCV000915676] | likely benign | 8 | 41717616 | 41717616 | Human | | name |
| 15202275 | CV766808 | single nucleotide variant | NM_000037.4(ANK1):c.1731C>G (p.Val577=) | not provided [RCV000935899] | likely benign | 8 | 41714225 | 41714225 | Human | | name |
| 15172642 | CV766809 | single nucleotide variant | NM_000037.4(ANK1):c.1725G>A (p.Val575=) | not provided [RCV000928157] | likely benign | 8 | 41714231 | 41714231 | Human | | name |
| 15122326 | CV766810 | single nucleotide variant | NM_000037.4(ANK1):c.1578A>G (p.Glu526=) | Hereditary spherocytosis type 1 [RCV005231983]|not provided [RCV000940668] | likely benign | 8 | 41715676 | 41715676 | Human | 1 | name , alternate_id |
| 15138342 | CV783106 | single nucleotide variant | NM_000037.4(ANK1):c.2424G>A (p.Glu808=) | not provided [RCV000982456] | likely benign | 8 | 41701587 | 41701587 | Human | | name |
| 28910509 | CV899586 | single nucleotide variant | NM_000037.4(ANK1):c.2817G>A (p.Pro939=) | Hereditary spherocytosis type 1 [RCV001161492]|Spherocytosis [RCV001161491] | uncertain significance | 8 | 41696506 | 41696506 | Human | 3 | name , alternate_id |
| 28869261 | CV899587 | single nucleotide variant | NM_000037.4(ANK1):c.2760C>T (p.Asp920=) | Hereditary spherocytosis type 1 [RCV001163009]|Spherocytosis [RCV001163010] | uncertain significance | 8 | 41696563 | 41696563 | Human | 3 | name , alternate_id |
| 28874087 | CV899590 | single nucleotide variant | NM_000037.4(ANK1):c.1638C>T (p.Tyr546=) | Hereditary spherocytosis type 1 [RCV001165202]|Spherocytosis [RCV001165203] | uncertain significance | 8 | 41715039 | 41715039 | Human | 3 | name , alternate_id |
| 28905545 | CV899592 | single nucleotide variant | NM_000037.4(ANK1):c.1521G>A (p.Leu507=) | Hereditary spherocytosis type 1 [RCV001158495]|Spherocytosis [RCV001158494] | uncertain significance | 8 | 41715733 | 41715733 | Human | 3 | name , alternate_id |
| 28874367 | CV899594 | single nucleotide variant | NM_000037.4(ANK1):c.1230G>C (p.Val410=) | Hereditary spherocytosis type 1 [RCV001165329]|Spherocytosis [RCV001165328] | uncertain significance | 8 | 41717679 | 41717679 | Human | 3 | name , alternate_id |
| 28905763 | CV899595 | single nucleotide variant | NM_000037.4(ANK1):c.1197G>A (p.Ala399=) | Hereditary spherocytosis type 1 [RCV001158604]|Spherocytosis [RCV001158603]|not provided [RCV003425961] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41718115 | 41718115 | Human | 3 | name , alternate_id |
| 28905767 | CV899596 | single nucleotide variant | NM_000037.4(ANK1):c.1194C>T (p.Asp398=) | Hereditary spherocytosis type 1 [RCV001158605]|not provided [RCV003718372] | likely benign|uncertain significance | 8 | 41718118 | 41718118 | Human | 1 | name , alternate_id |
| 28869988 | CV899598 | single nucleotide variant | NM_000037.4(ANK1):c.1050C>T (p.His350=) | Hereditary spherocytosis type 1 [RCV001163343] | uncertain significance | 8 | 41719718 | 41719718 | Human | 1 | name , alternate_id |
| 41404966 | CV981634 | single nucleotide variant | NM_000037.4(ANK1):c.2688C>T (p.Thr896=) | Hereditary spherocytosis type 1 [RCV001284926] | benign | 8 | 41696723 | 41696723 | Human | 1 | name , alternate_id |
| 42723628 | CV984505 | duplication | NM_000037.4(ANK1):c.607dup (p.Ser203fs) | not provided [RCV001291603] | pathogenic | 8 | 41725765 | 41725766 | Human | | name |
| 150548156 | CV1314179 | deletion | NM_000037.4(ANK1):c.1452del (p.Asn484fs) | Hereditary spherocytosis type 1 [RCV001785932] | likely pathogenic | 8 | 41715802 | 41715802 | Human | 1 | name , alternate_id |
| 8595025 | CV15550 | duplication | NM_000037.4(ANK1):c.1519dup (p.Leu507fs) | ANK1-related disorder [RCV003415605]|Hereditary spherocytosis type 1 [RCV000000540] | pathogenic | 8 | 41715734 | 41715735 | Human | 1 | name , alternate_id |
| 152085889 | CV1645279 | single nucleotide variant | NM_000037.4(ANK1):c.5223G>A (p.Gly1741=) | not provided [RCV002131421] | likely benign | 8 | 41668438 | 41668438 | Human | | name |
| 155644221 | CV1668590 | single nucleotide variant | NM_000037.4(ANK1):c.319C>T (p.Gln107Ter) | Hereditary spherocytosis type 1 [RCV002291020] | pathogenic | 8 | 41727916 | 41727916 | Human | 1 | name , alternate_id |
| 153303698 | CV1686422 | single nucleotide variant | NM_000037.4(ANK1):c.349A>G (p.Met117Val) | not provided [RCV002261855] | uncertain significance | 8 | 41727327 | 41727327 | Human | | name |
| 155264713 | CV1704274 | deletion | NM_000037.4(ANK1):c.2267del (p.Asn756fs) | not provided [RCV002284328] | likely pathogenic | 8 | 41704069 | 41704069 | Human | | name |
| 156438753 | CV1947370 | single nucleotide variant | NM_000037.4(ANK1):c.5526C>T (p.Ala1842=) | not provided [RCV003108700] | likely benign | 8 | 41661894 | 41661894 | Human | | name |
| 156283893 | CV1968104 | single nucleotide variant | NM_000037.4(ANK1):c.814G>T (p.Glu272Ter) | Hereditary spherocytosis type 1 [RCV003491129]|not provided [RCV002598485] | pathogenic | 8 | 41723220 | 41723220 | Human | 1 | name , alternate_id |
| 155902524 | CV2043696 | single nucleotide variant | NM_000037.4(ANK1):c.4461C>T (p.Gly1487=) | not provided [RCV002771066] | likely benign | 8 | 41684620 | 41684620 | Human | | name |
| 156287996 | CV2068636 | deletion | NM_000037.4(ANK1):c.1039del (p.His347fs) | not provided [RCV002856632] | pathogenic | 8 | 41719729 | 41719729 | Human | | name |
| 155943710 | CV2072406 | single nucleotide variant | NM_000037.4(ANK1):c.4080C>T (p.Asn1360=) | not provided [RCV002861942] | likely benign | 8 | 41690251 | 41690251 | Human | | name |
| 156214763 | CV2076604 | single nucleotide variant | NM_000037.4(ANK1):c.4458C>G (p.Ser1486=) | not provided [RCV002875629] | likely benign | 8 | 41684623 | 41684623 | Human | | name |
| 156339284 | CV2106747 | deletion | NM_000037.4(ANK1):c.1122del (p.Leu375fs) | not provided [RCV002938807] | pathogenic | 8 | 41718190 | 41718190 | Human | | name |
| 156313539 | CV2257027 | single nucleotide variant | NM_000037.4(ANK1):c.548A>G (p.Asn183Ser) | Inborn genetic diseases [RCV002809263] | uncertain significance | 8 | 41725825 | 41725825 | Human | 1 | name |
| 156196288 | CV2259169 | single nucleotide variant | NM_000037.4(ANK1):c.782G>A (p.Arg261Gln) | Hereditary spherocytosis type 1 [RCV003491276]|Inborn genetic diseases [RCV002803167] | uncertain significance | 8 | 41723563 | 41723563 | Human | 2 | name , alternate_id |
| 156083672 | CV2289614 | single nucleotide variant | NM_000037.4(ANK1):c.395A>G (p.Glu132Gly) | Inborn genetic diseases [RCV002869410] | uncertain significance | 8 | 41727281 | 41727281 | Human | 1 | name |
| 156183887 | CV2292192 | single nucleotide variant | NM_000037.4(ANK1):c.628C>G (p.Leu210Val) | Inborn genetic diseases [RCV002873833]|not provided [RCV004790426] | uncertain significance | 8 | 41724539 | 41724539 | Human | 1 | name |
| 243057888 | CV2405541 | duplication | NM_000037.4(ANK1):c.2023dup (p.Val675fs) | Hereditary spherocytosis type 1 [RCV003133748] | likely pathogenic | 8 | 41706216 | 41706217 | Human | 1 | name , alternate_id |
| 243053973 | CV2405876 | deletion | NM_000037.4(ANK1):c.2823del (p.Thr942fs) | Hereditary spherocytosis type 1 [RCV003131405] | likely pathogenic | 8 | 41696500 | 41696500 | Human | 1 | name , alternate_id |
| 243057847 | CV2406317 | duplication | NM_000037.4(ANK1):c.1717dup (p.Leu573fs) | Hereditary spherocytosis type 1 [RCV003135000] | pathogenic | 8 | 41714238 | 41714239 | Human | 1 | name , alternate_id |
| 243057697 | CV2407885 | deletion | NM_000037.4(ANK1):c.1709del (p.Leu570fs) | Hereditary spherocytosis type 1 [RCV003131191] | likely pathogenic | 8 | 41714247 | 41714247 | Human | 1 | name , alternate_id |
| 243057898 | CV2407984 | duplication | NM_000037.4(ANK1):c.1784dup (p.His596fs) | Hereditary spherocytosis type 1 [RCV003135744] | likely pathogenic | 8 | 41714171 | 41714172 | Human | 1 | name , alternate_id |
| 243063318 | CV2411657 | single nucleotide variant | NM_000037.4(ANK1):c.310G>A (p.Val104Ile) | Hereditary spherocytosis type 1 [RCV003141380]|not provided [RCV005099363] | uncertain significance | 8 | 41727925 | 41727925 | Human | 1 | name , alternate_id |
| 243063321 | CV2411660 | single nucleotide variant | NM_000037.4(ANK1):c.935C>T (p.Ala312Val) | Hereditary spherocytosis type 1 [RCV003141383] | uncertain significance | 8 | 41719833 | 41719833 | Human | 1 | name , alternate_id |
| 243063325 | CV2411664 | single nucleotide variant | NM_000037.4(ANK1):c.659A>G (p.Asn220Ser) | Hereditary spherocytosis type 1 [RCV003141387]|Inborn genetic diseases [RCV003358149] | uncertain significance | 8 | 41724508 | 41724508 | Human | 2 | name , alternate_id |
| 243063328 | CV2411667 | single nucleotide variant | NM_000037.4(ANK1):c.958T>C (p.Cys320Arg) | Hereditary spherocytosis type 1 [RCV003141390] | uncertain significance | 8 | 41719810 | 41719810 | Human | 1 | name , alternate_id |
| 243063329 | CV2411668 | single nucleotide variant | NM_000037.4(ANK1):c.761T>C (p.Met254Thr) | Hereditary spherocytosis type 1 [RCV003141391] | uncertain significance | 8 | 41723584 | 41723584 | Human | 1 | name , alternate_id |
| 243063342 | CV2411683 | single nucleotide variant | NM_000037.4(ANK1):c.964C>T (p.Arg322Trp) | Hereditary spherocytosis type 1 [RCV003141406] | uncertain significance | 8 | 41719804 | 41719804 | Human | 1 | name , alternate_id |
| 243063344 | CV2411685 | single nucleotide variant | NM_000037.4(ANK1):c.634A>G (p.Ile212Val) | Hereditary spherocytosis type 1 [RCV003141408] | uncertain significance | 8 | 41724533 | 41724533 | Human | 1 | name , alternate_id |
| 243063347 | CV2411688 | single nucleotide variant | NM_000037.4(ANK1):c.806C>T (p.Thr269Ile) | Hereditary spherocytosis type 1 [RCV003141411] | uncertain significance | 8 | 41723539 | 41723539 | Human | 1 | name , alternate_id |
| 243063348 | CV2411689 | single nucleotide variant | NM_000037.4(ANK1):c.749G>T (p.Gly250Val) | Hereditary spherocytosis type 1 [RCV003141412] | uncertain significance | 8 | 41723596 | 41723596 | Human | 1 | name , alternate_id |
| 243058816 | CV2413203 | duplication | NM_000037.4(ANK1):c.1488dup (p.Asn497fs) | Hereditary spherocytosis type 1 [RCV003134132]|not provided [RCV003699030] | pathogenic|likely pathogenic | 8 | 41715765 | 41715766 | Human | 1 | name , alternate_id |
| 243054286 | CV2413302 | deletion | NM_000037.4(ANK1):c.2485del (p.Ala829fs) | Hereditary spherocytosis type 1 [RCV003131561] | likely pathogenic | 8 | 41699525 | 41699525 | Human | 1 | name , alternate_id |
| 243052612 | CV2417951 | deletion | NM_000037.4(ANK1):c.2283del (p.Asn761fs) | Hereditary spherocytosis type 1 [RCV003153016] | likely pathogenic | 8 | 41704053 | 41704053 | Human | 1 | name , alternate_id |
| 329356684 | CV2460473 | single nucleotide variant | NM_000037.4(ANK1):c.898G>A (p.Ala300Thr) | Inborn genetic diseases [RCV003203393] | uncertain significance | 8 | 41723136 | 41723136 | Human | 1 | name |
| 401727277 | CV2736270 | single nucleotide variant | NM_000037.4(ANK1):c.721A>G (p.Thr241Ala) | not provided [RCV003312718] | uncertain significance | 8 | 41723624 | 41723624 | Human | | name |
| 401724048 | CV2737951 | deletion | NM_000037.4(ANK1):c.1915del (p.Leu639fs) | ANK1-related disorder [RCV003396992]|Hereditary spherocytosis type 1 [RCV003315123] | pathogenic | 8 | 41708861 | 41708861 | Human | 1 | name , alternate_id |
| 401830731 | CV2748379 | single nucleotide variant | NM_000037.4(ANK1):c.353C>A (p.Ala118Glu) | not provided [RCV003329988] | uncertain significance | 8 | 41727323 | 41727323 | Human | | name |
| 401875278 | CV2749928 | deletion | NM_000037.4(ANK1):c.1376del (p.Asn459fs) | Hereditary spherocytosis type 1 [RCV003333334] | likely pathogenic | 8 | 41716981 | 41716981 | Human | 1 | name , alternate_id |
| 401912105 | CV2796057 | single nucleotide variant | NM_000037.4(ANK1):c.767G>A (p.Arg256Gln) | ANK1-related disorder [RCV003399753] | uncertain significance | 8 | 41723578 | 41723578 | Human | | name , trait , alternate_id |
| 401933877 | CV2798005 | deletion | NM_000037.4(ANK1):c.1775del (p.Gly592fs) | ANK1-related disorder [RCV003410757] | pathogenic | 8 | 41714181 | 41714181 | Human | | name , trait , alternate_id |
| 401931373 | CV2798098 | single nucleotide variant | NM_000037.4(ANK1):c.829C>T (p.His277Tyr) | ANK1-related disorder [RCV003391344] | uncertain significance | 8 | 41723205 | 41723205 | Human | | name , trait , alternate_id |
| 401935104 | CV2799885 | single nucleotide variant | NM_000037.4(ANK1):c.452C>A (p.Ala151Asp) | ANK1-related disorder [RCV003412522] | uncertain significance | 8 | 41725921 | 41725921 | Human | | name , trait , alternate_id |
| 401907593 | CV2801164 | single nucleotide variant | NM_000037.4(ANK1):c.3984G>A (p.Lys1328=) | ANK1-related disorder [RCV003397405] | uncertain significance | 8 | 41690474 | 41690474 | Human | | name , trait , alternate_id |
| 401923981 | CV2821055 | single nucleotide variant | NM_000037.4(ANK1):c.4056C>T (p.Thr1352=) | not provided [RCV003435473] | likely benign | 8 | 41690275 | 41690275 | Human | | name |
| 401961027 | CV2844431 | single nucleotide variant | NM_000037.4(ANK1):c.371T>A (p.Leu124Ter) | not provided [RCV003480226] | pathogenic | 8 | 41727305 | 41727305 | Human | | name |
| 404988511 | CV2849597 | single nucleotide variant | NM_000037.4(ANK1):c.344T>A (p.Leu115Gln) | Hereditary spherocytosis type 1 [RCV003490452] | uncertain significance | 8 | 41727332 | 41727332 | Human | 1 | name , alternate_id |
| 404988565 | CV2849605 | single nucleotide variant | NM_000037.4(ANK1):c.694G>A (p.Val232Ile) | Hereditary spherocytosis type 1 [RCV003490460] | uncertain significance | 8 | 41724473 | 41724473 | Human | 1 | name , alternate_id |
| 404993123 | CV2850950 | deletion | NM_000037.4(ANK1):c.1519del (p.Leu507fs) | Hereditary spherocytosis type 1 [RCV003491437] | pathogenic | 8 | 41715735 | 41715735 | Human | 1 | name , alternate_id |
| 404984197 | CV2851549 | duplication | NM_000037.4(ANK1):c.1282dup (p.Ala428fs) | Hereditary spherocytosis type 1 [RCV003489300] | likely pathogenic | 8 | 41717626 | 41717627 | Human | 1 | name , alternate_id |
| 404984220 | CV2851554 | single nucleotide variant | NM_000037.4(ANK1):c.341C>T (p.Pro114Leu) | Hereditary spherocytosis type 1 [RCV003489305] | likely pathogenic | 8 | 41727335 | 41727335 | Human | 1 | name , alternate_id |
| 404984264 | CV2851562 | deletion | NM_000037.4(ANK1):c.2764del (p.Arg922fs) | Hereditary spherocytosis type 1 [RCV003489313] | likely pathogenic | 8 | 41696559 | 41696559 | Human | 1 | name , alternate_id |
| 404984287 | CV2851567 | deletion | NM_000037.4(ANK1):c.1124del (p.Leu375fs) | Hereditary spherocytosis type 1 [RCV003489318] | likely pathogenic | 8 | 41718188 | 41718188 | Human | 1 | name , alternate_id |
| 404984291 | CV2851568 | deletion | NM_000037.4(ANK1):c.1675del (p.Asp559fs) | Hereditary spherocytosis type 1 [RCV003489319] | likely pathogenic | 8 | 41715002 | 41715002 | Human | 1 | name , alternate_id |
| 404984322 | CV2851574 | deletion | NM_000037.4(ANK1):c.2681del (p.Pro894fs) | Hereditary spherocytosis type 1 [RCV003489325] | likely pathogenic | 8 | 41696730 | 41696730 | Human | 1 | name , alternate_id |
| 405026715 | CV2852866 | duplication | NM_000037.4(ANK1):c.2581dup (p.Arg861fs) | Hereditary spherocytosis type 1 [RCV003494060] | likely pathogenic | 8 | 41698098 | 41698099 | Human | 1 | name , alternate_id |
| 405225757 | CV2882021 | deletion | NM_000037.4(ANK1):c.1175del (p.Lys392fs) | not provided [RCV003554567] | pathogenic | 8 | 41718137 | 41718137 | Human | | name |
| 405170845 | CV2897407 | single nucleotide variant | NM_000037.4(ANK1):c.682A>T (p.Arg228Ter) | not provided [RCV003563110] | pathogenic | 8 | 41724485 | 41724485 | Human | | name |
| 402468273 | CV2911528 | deletion | NM_000037.4(ANK1):c.2221del (p.Ala741fs) | not provided [RCV003569866] | pathogenic | 8 | 41704115 | 41704115 | Human | | name |
| 402471997 | CV2912116 | single nucleotide variant | NM_000037.4(ANK1):c.965G>A (p.Arg322Gln) | not provided [RCV003570691] | uncertain significance | 8 | 41719803 | 41719803 | Human | | name |
| 402504447 | CV2927553 | single nucleotide variant | NM_000037.4(ANK1):c.991A>T (p.Ile331Leu) | not provided [RCV003574322] | uncertain significance | 8 | 41719777 | 41719777 | Human | | name |
| 402481379 | CV3001155 | single nucleotide variant | NM_000037.4(ANK1):c.368A>C (p.His123Pro) | not provided [RCV003686647] | uncertain significance | 8 | 41727308 | 41727308 | Human | | name |
| 405082610 | CV3017044 | deletion | NM_000037.4(ANK1):c.2199del (p.Gly734fs) | not provided [RCV003699157] | pathogenic | 8 | 41704137 | 41704137 | Human | | name |
| 405128353 | CV3054348 | single nucleotide variant | NM_000037.4(ANK1):c.925A>G (p.Ile309Val) | not provided [RCV003724591] | uncertain significance | 8 | 41719843 | 41719843 | Human | | name |
| 405181111 | CV3057267 | single nucleotide variant | NM_000037.4(ANK1):c.4098C>T (p.Cys1366=) | not provided [RCV003728782] | likely benign | 8 | 41690233 | 41690233 | Human | | name |
| 405057017 | CV3081290 | single nucleotide variant | NM_000037.4(ANK1):c.325C>T (p.Gln109Ter) | Hereditary spherocytosis type 1 [RCV003741136] | pathogenic | 8 | 41727910 | 41727910 | Human | 1 | name , alternate_id |
| 405057026 | CV3081300 | single nucleotide variant | NM_000037.4(ANK1):c.455T>C (p.Leu152Pro) | Hereditary spherocytosis type 1 [RCV003741137] | uncertain significance | 8 | 41725918 | 41725918 | Human | 1 | name , alternate_id |
| 405057071 | CV3081388 | deletion | NM_000037.4(ANK1):c.1438del (p.Ile480fs) | Hereditary spherocytosis type 1 [RCV003741143] | pathogenic | 8 | 41715816 | 41715816 | Human | 1 | name , alternate_id |
| 405058677 | CV3129358 | single nucleotide variant | NM_000037.4(ANK1):c.5298C>T (p.Pro1766=) | not provided [RCV003832627] | likely benign | 8 | 41668363 | 41668363 | Human | | name |
| 405192665 | CV3157211 | single nucleotide variant | NM_000037.4(ANK1):c.694G>T (p.Val232Phe) | not provided [RCV003859900] | uncertain significance | 8 | 41724473 | 41724473 | Human | | name |
| 405194417 | CV3167656 | single nucleotide variant | NM_000037.4(ANK1):c.614C>T (p.Thr205Met) | not provided [RCV003860062] | uncertain significance | 8 | 41724553 | 41724553 | Human | | name |
| 402490592 | CV3182414 | single nucleotide variant | NM_000037.4(ANK1):c.3600C>T (p.Cys1200=) | not provided [RCV003876900] | likely benign | 8 | 41693134 | 41693134 | Human | | name |
| 402495470 | CV3183097 | single nucleotide variant | NM_000037.4(ANK1):c.3228C>T (p.Ile1076=) | not provided [RCV003877405] | likely benign | 8 | 41694691 | 41694691 | Human | | name |
| 405269401 | CV3187346 | single nucleotide variant | NM_000037.4(ANK1):c.3762G>A (p.Gly1254=) | not provided [RCV003887430] | likely benign | 8 | 41692744 | 41692744 | Human | | name |
| 405289054 | CV3204884 | single nucleotide variant | NM_000037.4(ANK1):c.4116C>T (p.Ala1372=) | ANK1-related disorder [RCV003961535] | likely benign | 8 | 41688578 | 41688578 | Human | | name , trait , alternate_id |
| 405288771 | CV3209932 | single nucleotide variant | NM_000037.4(ANK1):c.3105G>A (p.Gly1035=) | ANK1-related disorder [RCV003961423] | likely benign | 8 | 41695187 | 41695187 | Human | | name , trait , alternate_id |
| 405255690 | CV3210787 | single nucleotide variant | NM_000037.4(ANK1):c.4569C>T (p.Ser1523=) | ANK1-related disorder [RCV003939300]|not provided [RCV005064820] | likely benign | 8 | 41672881 | 41672881 | Human | 1 | name , alternate_id |
| 405265820 | CV3220912 | single nucleotide variant | NM_000037.4(ANK1):c.498C>G (p.Tyr166Ter) | ANK1-related disorder [RCV003969073] | pathogenic | 8 | 41725875 | 41725875 | Human | | name , trait , alternate_id |
| 405705401 | CV3224794 | deletion | NM_000037.4(ANK1):c.1143del (p.Asn382fs) | Hereditary spherocytosis type 1 [RCV003990174] | uncertain significance | 8 | 41718169 | 41718169 | Human | 1 | name , alternate_id |
| 405698639 | CV3227010 | single nucleotide variant | NM_000037.4(ANK1):c.3909T>C (p.Pro1303=) | not provided [RCV003993404] | likely benign | 8 | 41690549 | 41690549 | Human | | name |
| 405691556 | CV3227498 | single nucleotide variant | NM_000037.4(ANK1):c.895C>T (p.Gln299Ter) | Hereditary spherocytosis type 1 [RCV003991843] | likely pathogenic | 8 | 41723139 | 41723139 | Human | 1 | name , alternate_id |
| 405809499 | CV3287587 | single nucleotide variant | NM_000037.4(ANK1):c.487C>T (p.Leu163Phe) | Inborn genetic diseases [RCV004407549] | uncertain significance | 8 | 41725886 | 41725886 | Human | 1 | name |
| 405809582 | CV3287650 | single nucleotide variant | NM_000037.4(ANK1):c.742C>T (p.Arg248Cys) | Inborn genetic diseases [RCV004407612] | uncertain significance | 8 | 41723603 | 41723603 | Human | 1 | name |
| 405809602 | CV3287660 | single nucleotide variant | NM_000037.4(ANK1):c.956A>C (p.Asp319Ala) | Inborn genetic diseases [RCV004407622] | uncertain significance | 8 | 41719812 | 41719812 | Human | 1 | name |
| 407460092 | CV3496910 | single nucleotide variant | NM_000037.4(ANK1):c.3477G>A (p.Pro1159=) | Hereditary spherocytosis type 1 [RCV004698725] | likely benign | 8 | 41693953 | 41693953 | Human | 1 | name , alternate_id |
| 408380632 | CV3501224 | single nucleotide variant | NM_000037.4(ANK1):c.4257A>G (p.Ala1419=) | not provided [RCV004727313] | likely benign | 8 | 41688157 | 41688157 | Human | | name |
| 408382599 | CV3503501 | deletion | NM_000037.4(ANK1):c.1495del (p.Ala499fs) | ANK1-related disorder [RCV004730018] | pathogenic | 8 | 41715759 | 41715759 | Human | | name , trait , alternate_id |
| 408375157 | CV3510062 | single nucleotide variant | NM_000037.4(ANK1):c.3552G>A (p.Gln1184=) | ANK1-related disorder [RCV004747808] | likely benign | 8 | 41693182 | 41693182 | Human | | name , trait , alternate_id |
| 596932372 | CV3538992 | single nucleotide variant | NM_000037.4(ANK1):c.814G>A (p.Glu272Lys) | not provided [RCV004793118] | uncertain significance | 8 | 41723220 | 41723220 | Human | | name |
| 596932373 | CV3538993 | single nucleotide variant | NM_000037.4(ANK1):c.728T>G (p.Leu243Arg) | not provided [RCV004793119] | uncertain significance | 8 | 41723617 | 41723617 | Human | | name |
| 596930203 | CV3540209 | deletion | NM_000037.4(ANK1):c.2755del (p.Val919fs) | not provided [RCV004792196] | likely pathogenic | 8 | 41696568 | 41696568 | Human | | name |
| 596930213 | CV3540213 | deletion | NM_000037.4(ANK1):c.1236del (p.Phe413fs) | not provided [RCV004792200] | likely pathogenic | 8 | 41717673 | 41717673 | Human | | name |
| 596944658 | CV3543280 | deletion | NM_000037.4(ANK1):c.2538del (p.Phe846fs) | Spherocytosis [RCV004799152] | pathogenic | 8 | 41699472 | 41699472 | Human | 2 | name |
| 596947048 | CV3547110 | single nucleotide variant | NM_000037.4(ANK1):c.3012C>T (p.Arg1004=) | not provided [RCV004810917] | likely benign | 8 | 41695280 | 41695280 | Human | | name |
| 596946681 | CV3548510 | single nucleotide variant | NM_000037.4(ANK1):c.4644C>T (p.Asp1548=) | not provided [RCV004810337] | likely benign | 8 | 41672806 | 41672806 | Human | | name |
| 597701888 | CV3693339 | single nucleotide variant | NM_000037.4(ANK1):c.853G>A (p.Val285Met) | Inborn genetic diseases [RCV004988151] | uncertain significance | 8 | 41723181 | 41723181 | Human | 1 | name |
| 597702045 | CV3701717 | single nucleotide variant | NM_000037.4(ANK1):c.490A>G (p.Ile164Val) | Inborn genetic diseases [RCV004988172] | uncertain significance | 8 | 41725883 | 41725883 | Human | 1 | name |
| 597856724 | CV3769394 | single nucleotide variant | NM_000037.4(ANK1):c.5250C>T (p.Tyr1750=) | not provided [RCV005105435] | likely benign | 8 | 41668411 | 41668411 | Human | | name |
| 597946402 | CV3790125 | single nucleotide variant | NM_000037.4(ANK1):c.923C>G (p.Pro308Arg) | not provided [RCV005134826] | uncertain significance | 8 | 41719845 | 41719845 | Human | | name |
| 597962922 | CV3795865 | single nucleotide variant | NM_000037.4(ANK1):c.5118C>T (p.Asp1706=) | not provided [RCV005139355] | likely benign | 8 | 41668543 | 41668543 | Human | | name |
| 597970769 | CV3802083 | single nucleotide variant | NM_000037.4(ANK1):c.3642G>A (p.Ser1214=) | not provided [RCV005141875] | likely benign | 8 | 41692864 | 41692864 | Human | | name |
| 597928171 | CV3816102 | single nucleotide variant | NM_000037.4(ANK1):c.3877C>T (p.Leu1293=) | not provided [RCV005156683] | likely benign | 8 | 41690581 | 41690581 | Human | | name |
| 597849405 | CV3824430 | single nucleotide variant | NM_000037.4(ANK1):c.4278G>A (p.Gln1426=) | not provided [RCV005173469] | likely benign | 8 | 41686264 | 41686264 | Human | | name |
| 597873592 | CV3836328 | single nucleotide variant | NM_000037.4(ANK1):c.3828C>T (p.Phe1276=) | not provided [RCV005177125] | likely benign | 8 | 41692678 | 41692678 | Human | | name |
| 598127494 | CV3882699 | deletion | NM_000037.4(ANK1):c.1849del (p.Val617fs) | Hereditary spherocytosis type 1 [RCV005234229] | pathogenic | 8 | 41708927 | 41708927 | Human | 1 | name , alternate_id |
| 598127613 | CV3882776 | single nucleotide variant | NM_000037.4(ANK1):c.305C>A (p.Ala102Asp) | Hereditary spherocytosis type 1 [RCV005234307] | uncertain significance | 8 | 41727930 | 41727930 | Human | 1 | name , alternate_id |
| 598128068 | CV3883086 | single nucleotide variant | NM_000037.4(ANK1):c.3687G>T (p.Leu1229=) | Hereditary spherocytosis type 1 [RCV005234619] | likely benign | 8 | 41692819 | 41692819 | Human | 1 | name , alternate_id |
| 598129984 | CV3887410 | single nucleotide variant | NM_000037.4(ANK1):c.3666T>C (p.Ala1222=) | not provided [RCV005245471] | likely benign | 8 | 41692840 | 41692840 | Human | | name |
| 598128242 | CV3887440 | single nucleotide variant | NM_000037.4(ANK1):c.4140G>A (p.Thr1380=) | not provided [RCV005243613] | likely benign | 8 | 41688554 | 41688554 | Human | | name |
| 598270778 | CV3973242 | single nucleotide variant | NM_000037.4(ANK1):c.760A>G (p.Met254Val) | Inborn genetic diseases [RCV005350193] | uncertain significance | 8 | 41723585 | 41723585 | Human | 1 | name |
| 616938973 | CV4015301 | single nucleotide variant | NM_000037.4(ANK1):c.648C>G (p.Tyr216Ter) | not provided [RCV005412810] | pathogenic | 8 | 41724519 | 41724519 | Human | | name |
| 15099087 | CV723088 | single nucleotide variant | NM_000037.4(ANK1):c.3615C>T (p.Thr1205=) | not provided [RCV000891878] | likely benign | 8 | 41693119 | 41693119 | Human | | name |
| 15102425 | CV751135 | single nucleotide variant | NM_000037.4(ANK1):c.5574G>A (p.Pro1858=) | not provided [RCV000914963] | likely benign | 8 | 41661535 | 41661535 | Human | | name |
| 15203322 | CV751137 | single nucleotide variant | NM_000037.4(ANK1):c.5124G>A (p.Ser1708=) | not provided [RCV000913866] | likely benign | 8 | 41668537 | 41668537 | Human | | name |
| 15199942 | CV751140 | single nucleotide variant | NM_000037.4(ANK1):c.4341T>C (p.Ser1447=) | Hereditary spherocytosis type 1 [RCV001162696]|Spherocytosis [RCV001161141]|not provided [RCV000912699] | likely benign|uncertain significance | 8 | 41686201 | 41686201 | Human | 3 | name , alternate_id |
| 15203154 | CV751144 | single nucleotide variant | NM_000037.4(ANK1):c.3594C>T (p.Asn1198=) | not provided [RCV000913752] | likely benign | 8 | 41693140 | 41693140 | Human | | name |
| 15117189 | CV766807 | single nucleotide variant | NM_000037.4(ANK1):c.3045C>T (p.Ser1015=) | not provided [RCV000939792] | likely benign | 8 | 41695247 | 41695247 | Human | | name |
| 21406382 | CV799548 | single nucleotide variant | NM_000037.4(ANK1):c.499G>C (p.Gly167Arg) | Hereditary spherocytosis type 1 [RCV001002597]|Spherocytosis [RCV001163455]|not provided [RCV005093026] | conflicting interpretations of pathogenicity|uncertain significance | 8 | 41725874 | 41725874 | Human | 3 | name , alternate_id |
| 21405633 | CV799549 | single nucleotide variant | NM_000037.4(ANK1):c.344T>C (p.Leu115Pro) | Hereditary spherocytosis type 1 [RCV001000898] | uncertain significance | 8 | 41727332 | 41727332 | Human | 1 | name , alternate_id |
| 28868463 | CV899567 | single nucleotide variant | NM_000037.4(ANK1):c.5628A>G (p.Lys1876=) | Hereditary spherocytosis type 1 [RCV001164543]|Spherocytosis [RCV001162509] | uncertain significance | 8 | 41661481 | 41661481 | Human | 3 | name , alternate_id |
| 28872736 | CV899568 | single nucleotide variant | NM_000037.4(ANK1):c.5520C>T (p.Ala1840=) | Hereditary spherocytosis type 1 [RCV001164548]|Spherocytosis [RCV001164547]|not provided [RCV003737009] | likely benign|uncertain significance | 8 | 41661900 | 41661900 | Human | 3 | name , alternate_id |
| 28907589 | CV899569 | single nucleotide variant | NM_000037.4(ANK1):c.5448G>A (p.Thr1816=) | Hereditary spherocytosis type 1 [RCV001159629]|Spherocytosis [RCV001159630] | uncertain significance | 8 | 41663689 | 41663689 | Human | 3 | name , alternate_id |
| 28868614 | CV899573 | single nucleotide variant | NM_000037.4(ANK1):c.5061C>G (p.Pro1687=) | Hereditary spherocytosis type 1 [RCV001162601]|Spherocytosis [RCV001162600] | uncertain significance | 8 | 41672389 | 41672389 | Human | 3 | name , alternate_id |
| 28910090 | CV899574 | single nucleotide variant | NM_000037.4(ANK1):c.4365C>T (p.Val1455=) | Hereditary spherocytosis type 1 [RCV001161139]|Spherocytosis [RCV001161140] | uncertain significance | 8 | 41686177 | 41686177 | Human | 3 | name , alternate_id |
| 28869088 | CV899583 | single nucleotide variant | NM_000037.4(ANK1):c.3342G>T (p.Pro1114=) | Hereditary spherocytosis type 1 [RCV001162909]|Spherocytosis [RCV001162910] | uncertain significance | 8 | 41694088 | 41694088 | Human | 3 | name , alternate_id |
| 28869992 | CV899599 | single nucleotide variant | NM_000037.4(ANK1):c.997G>A (p.Asp333Asn) | ANK1-related disorder [RCV003908415]|Hereditary spherocytosis type 1 [RCV001163344]|See cases [RCV002252320]|not provided [RCV002067984] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41719771 | 41719771 | Human | 1 | name , alternate_id |
| 28874624 | CV899601 | single nucleotide variant | NM_000037.4(ANK1):c.875T>C (p.Leu292Pro) | Hereditary spherocytosis type 1 [RCV001165447]|Spherocytosis [RCV001165446] | uncertain significance | 8 | 41723159 | 41723159 | Human | 3 | name , alternate_id |
| 28905969 | CV899603 | single nucleotide variant | NM_000037.4(ANK1):c.722C>T (p.Thr241Met) | Hereditary spherocytosis type 1 [RCV001158719]|Spherocytosis [RCV001158718] | uncertain significance | 8 | 41723623 | 41723623 | Human | 3 | name , alternate_id |
| 38465456 | CV961857 | deletion | NM_000037.4(ANK1):c.1717del (p.Leu573fs) | Hereditary spherocytosis type 1 [RCV001250152]|not provided [RCV001508240] | pathogenic | 8 | 41714239 | 41714239 | Human | 1 | name , alternate_id |
| 41405899 | CV981644 | single nucleotide variant | NM_000037.4(ANK1):c.841C>T (p.Arg281Ter) | Hereditary spherocytosis type 1 [RCV001287819]|not provided [RCV001508247] | pathogenic | 8 | 41723193 | 41723193 | Human | 1 | name , alternate_id |
| 41407373 | CV981645 | single nucleotide variant | NM_000037.4(ANK1):c.830A>C (p.His277Pro) | Hereditary spherocytosis type 1 [RCV001289706] | uncertain significance | 8 | 41723204 | 41723204 | Human | 1 | name , alternate_id |
| 41405588 | CV981646 | single nucleotide variant | NM_000037.4(ANK1):c.758T>G (p.Ile253Ser) | Hereditary spherocytosis type 1 [RCV001286891] | uncertain significance | 8 | 41723587 | 41723587 | Human | 1 | name , alternate_id |
| 150548153 | CV1314176 | single nucleotide variant | NM_000037.4(ANK1):c.3157C>T (p.Arg1053Ter) | ANK1-related disorder [RCV003416450]|Hereditary spherocytosis type 1 [RCV001785929]|not provided [RCV001885175] | pathogenic|likely pathogenic | 8 | 41694762 | 41694762 | Human | 1 | alternate_id |
| 8595024 | CV15549 | single nucleotide variant | NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter) | ANK1-related disorder [RCV003398399]|Hereditary spherocytosis type 1 [RCV000000539]|not provided [RCV001508610] | pathogenic|likely pathogenic | 8 | 41661923 | 41661923 | Human | 1 | alternate_id |
| 156011978 | CV2039370 | single nucleotide variant | NM_000037.4(ANK1):c.2095C>T (p.Arg699Trp) | ANK1-related disorder [RCV003409927]|not provided [RCV002756735] | uncertain significance | 8 | 41706145 | 41706145 | Human | 1 | alternate_id |
| 156295602 | CV2303072 | single nucleotide variant | NM_000037.4(ANK1):c.1685C>T (p.Pro562Leu) | ANK1-related disorder [RCV003420461]|Inborn genetic diseases [RCV002897502]|not provided [RCV004790431] | uncertain significance | 8 | 41714992 | 41714992 | Human | 2 | alternate_id |
| 243055490 | CV2406310 | single nucleotide variant | NM_000037.4(ANK1):c.5044C>T (p.Arg1682Ter) | ANK1-related disorder [RCV003395707]|Hereditary spherocytosis type 1 [RCV003132022] | pathogenic | 8 | 41672406 | 41672406 | Human | 1 | alternate_id |
| 243063332 | CV2411672 | single nucleotide variant | NM_000037.4(ANK1):c.4030C>T (p.Arg1344Cys) | ANK1-related disorder [RCV004747270]|Hereditary spherocytosis type 1 [RCV003141395] | uncertain significance | 8 | 41690301 | 41690301 | Human | 1 | alternate_id |
| 401923171 | CV2796660 | single nucleotide variant | NM_000037.4(ANK1):c.1127A>C (p.His376Pro) | ANK1-related disorder [RCV003404279] | uncertain significance | 8 | 41718185 | 41718185 | Human | | trait , alternate_id |
| 401935027 | CV2798158 | single nucleotide variant | NM_000037.4(ANK1):c.2797G>A (p.Gly933Ser) | ANK1-related disorder [RCV003412443]|Inborn genetic diseases [RCV004985345] | uncertain significance | 8 | 41696526 | 41696526 | Human | 2 | alternate_id |
| 401913678 | CV2799028 | single nucleotide variant | NM_000037.4(ANK1):c.4520C>A (p.Ser1507Ter) | ANK1-related disorder [RCV003400209] | pathogenic | 8 | 41684561 | 41684561 | Human | | trait , alternate_id |
| 401933968 | CV2802487 | single nucleotide variant | NM_000037.4(ANK1):c.4459G>A (p.Gly1487Ser) | ANK1-related disorder [RCV003410851]|not provided [RCV003720907] | uncertain significance | 8 | 41684622 | 41684622 | Human | 1 | alternate_id |
| 401931637 | CV2803865 | duplication | NM_000037.4(ANK1):c.725_744dup (p.Arg249fs) | ANK1-related disorder [RCV003408408] | pathogenic|likely pathogenic | 8 | 41723600 | 41723601 | Human | | trait , alternate_id |
| 401909460 | CV2803953 | single nucleotide variant | NM_000037.4(ANK1):c.3698T>C (p.Leu1233Pro) | ANK1-related disorder [RCV003397830] | uncertain significance | 8 | 41692808 | 41692808 | Human | | trait , alternate_id |
| 11608752 | CV314346 | single nucleotide variant | NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His) | ANK1-related disorder [RCV003950288]|Hereditary spherocytosis type 1 [RCV000359380]|Inborn genetic diseases [RCV002523681]|Spherocytosis [RCV001162700]|not provided [RCV000755816] | likely benign|uncertain significance | 8 | 41688538 | 41688538 | Human | 4 | alternate_id |
| 405284795 | CV3201850 | insertion | NM_000037.4(ANK1):c.3476_3477insAG (p.Arg1160fs) | ANK1-related disorder [RCV003909373] | pathogenic | 8 | 41693953 | 41693954 | Human | | trait , alternate_id |
| 408382780 | CV3503614 | single nucleotide variant | NM_000037.4(ANK1):c.1094A>T (p.Asn365Ile) | ANK1-related disorder [RCV004730095] | uncertain significance | 8 | 41719674 | 41719674 | Human | | trait , alternate_id |
| 408378332 | CV3505199 | single nucleotide variant | NM_000037.4(ANK1):c.3781A>G (p.Met1261Val) | ANK1-related disorder [RCV004727936] | uncertain significance | 8 | 41692725 | 41692725 | Human | | trait , alternate_id |
| 408374209 | CV3515196 | single nucleotide variant | NM_000037.4(ANK1):c.2942C>T (p.Thr981Met) | ANK1-related disorder [RCV004746088] | uncertain significance | 8 | 41696381 | 41696381 | Human | | trait , alternate_id |
| 14393489 | CV609694 | single nucleotide variant | NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys) | ANK1-related disorder [RCV003918234]|Hereditary spherocytosis type 1 [RCV001164662]|Inborn genetic diseases [RCV002536557]|Spherocytosis [RCV001159736]|not provided [RCV003688880] | likely benign|uncertain significance | 8 | 41672844 | 41672844 | Human | 4 | alternate_id |
| 14393490 | CV609698 | single nucleotide variant | NM_000037.4(ANK1):c.965G>T (p.Arg322Leu) | ANK1-related disorder [RCV003965559]|Hereditary spherocytosis type 1 [RCV001163346]|Spherocytosis [RCV001163347]|not provided [RCV000755813] | likely benign|uncertain significance | 8 | 41719803 | 41719803 | Human | 3 | alternate_id |
| 15168135 | CV711527 | single nucleotide variant | NM_000037.4(ANK1):c.5601G>A (p.Ala1867=) | ANK1-related disorder [RCV003906018]|Hereditary spherocytosis type 1 [RCV001164545]|Spherocytosis [RCV001164546]|not provided [RCV000971551] | likely benign|uncertain significance | 8 | 41661508 | 41661508 | Human | 3 | alternate_id |
| 15177179 | CV736649 | single nucleotide variant | NM_000037.4(ANK1):c.3102C>T (p.Asn1034=) | ANK1-related disorder [RCV003910840]|Hereditary spherocytosis type 1 [RCV001164985]|Spherocytosis [RCV001164986]|not provided [RCV000906589] | benign|likely benign|uncertain significance | 8 | 41695190 | 41695190 | Human | 3 | alternate_id |
| 15131384 | CV736650 | single nucleotide variant | NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr) | ANK1-related disorder [RCV003940804]|Hereditary spherocytosis type 1 [RCV001161489]|Spherocytosis [RCV001161490]|not provided [RCV000897766] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41696493 | 41696493 | Human | 3 | alternate_id |
| 15161584 | CV736656 | single nucleotide variant | NM_000037.4(ANK1):c.2132A>G (p.Tyr711Cys) | ANK1-related disorder [RCV003975758]|Hereditary spherocytosis type 1 [RCV001804071]|not provided [RCV000903376] | likely benign|conflicting interpretations of pathogenicity | 8 | 41704438 | 41704438 | Human | 1 | alternate_id |
| 21405414 | CV799547 | single nucleotide variant | NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys) | ANK1-related disorder [RCV003928656]|Hereditary spherocytosis type 1 [RCV001000394]|Immunodeficiency 62 [RCV003447570]|Spherocytosis [RCV001161824]|not provided [RCV001869418] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41718159 | 41718159 | Human | 18 | alternate_id |
| 21405414 | CV799547 | single nucleotide variant | NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys) | ANK1-related disorder [RCV003928656]|Hereditary spherocytosis type 1 [RCV001000394]|Immunodeficiency 62 [RCV003447570]|Spherocytosis [RCV001161824]|not provided [RCV001869418] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41718159 | 41718160 | Human | 18 | alternate_id |
| 28868935 | CV899579 | single nucleotide variant | NM_000037.4(ANK1):c.3829G>A (p.Val1277Met) | ANK1-related disorder [RCV003938535]|Hereditary spherocytosis type 1 [RCV001162798]|Spherocytosis [RCV001162797]|not provided [RCV001815502] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41692677 | 41692677 | Human | 4 | alternate_id |
| 28868935 | CV899579 | single nucleotide variant | NM_000037.4(ANK1):c.3829G>A (p.Val1277Met) | ANK1-related disorder [RCV003938535]|Hereditary spherocytosis type 1 [RCV001162798]|Spherocytosis [RCV001162797]|not provided [RCV001815502] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41692677 | 41692678 | Human | 4 | alternate_id |
| 126734524 | CV1000626 | single nucleotide variant | NM_000037.4(ANK1):c.4458C>T (p.Ser1486=) | Hereditary spherocytosis type 1 [RCV005232258]|not provided [RCV001311330] | likely benign | 8 | 41684623 | 41684623 | Human | 1 | alternate_id |
| 126726699 | CV1017053 | single nucleotide variant | NM_000037.4(ANK1):c.1693G>T (p.Ala565Ser) | Hereditary spherocytosis type 1 [RCV001332123] | uncertain significance | 8 | 41714984 | 41714984 | Human | 1 | alternate_id |
| 126726696 | CV1017054 | single nucleotide variant | NM_000037.4(ANK1):c.1066G>A (p.Val356Ile) | Hereditary spherocytosis type 1 [RCV001332122]|Inborn genetic diseases [RCV003346479] | uncertain significance | 8 | 41719702 | 41719702 | Human | 2 | alternate_id |
| 127288545 | CV1152323 | deletion | NM_000037.4(ANK1):c.4813del (p.Ala1605fs) | Hereditary spherocytosis type 1 [RCV003136091]|not provided [RCV001508612] | likely pathogenic | 8 | 41672637 | 41672637 | Human | 1 | alternate_id |
| 127289595 | CV1152325 | single nucleotide variant | NM_000037.4(ANK1):c.4472G>A (p.Arg1491His) | Hereditary spherocytosis type 1 [RCV003136092]|Inborn genetic diseases [RCV004037909]|not provided [RCV001509334] | uncertain significance | 8 | 41684609 | 41684609 | Human | 2 | alternate_id |
| 127289597 | CV1152326 | single nucleotide variant | NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter) | Hereditary spherocytosis type 1 [RCV001564049]|not provided [RCV001509336] | pathogenic|likely pathogenic | 8 | 41690331 | 41690331 | Human | 1 | alternate_id |
| 127289600 | CV1152327 | single nucleotide variant | NM_000037.4(ANK1):c.3386G>T (p.Ser1129Ile) | Hereditary spherocytosis type 1 [RCV003490264]|not provided [RCV001509337] | likely pathogenic|uncertain significance | 8 | 41694044 | 41694044 | Human | 1 | alternate_id |
| 150529676 | CV1289351 | deletion | NM_000037.4(ANK1):c.382_386del (p.Lys128fs) | Hereditary spherocytosis type 1 [RCV001728102] | pathogenic | 8 | 41727290 | 41727294 | Human | 1 | alternate_id |
| 150529860 | CV1289352 | deletion | NM_000037.4(ANK1):c.3775del (p.Tyr1259fs) | Hereditary spherocytosis type 1 [RCV001728103] | likely pathogenic | 8 | 41692731 | 41692731 | Human | 1 | alternate_id |
| 150529864 | CV1289353 | deletion | NM_000037.4(ANK1):c.3850del (p.Asp1284fs) | Hereditary spherocytosis type 1 [RCV001728104] | pathogenic | 8 | 41692656 | 41692656 | Human | 1 | alternate_id |
| 150529677 | CV1289354 | single nucleotide variant | NM_000037.4(ANK1):c.4465C>T (p.Gln1489Ter) | Hereditary spherocytosis type 1 [RCV001728105]|not provided [RCV002539780] | pathogenic|likely pathogenic | 8 | 41684616 | 41684616 | Human | 1 | alternate_id |
| 150529867 | CV1289355 | deletion | NM_000037.4(ANK1):c.2004del (p.Leu669fs) | Hereditary spherocytosis type 1 [RCV001728106] | likely pathogenic | 8 | 41706236 | 41706236 | Human | 1 | alternate_id |
| 150529870 | CV1289356 | duplication | NM_000037.4(ANK1):c.2104dup (p.Tyr702fs) | Hereditary spherocytosis type 1 [RCV001728107] | likely pathogenic | 8 | 41704465 | 41704466 | Human | 1 | alternate_id |
| 150529679 | CV1289357 | deletion | NM_000037.4(ANK1):c.2393_2403del (p.Val798fs) | Hereditary spherocytosis type 1 [RCV001728108] | pathogenic | 8 | 41701608 | 41701618 | Human | 1 | alternate_id |
| 150529874 | CV1289358 | deletion | NM_000037.4(ANK1):c.3059_3066del (p.His1020fs) | Hereditary spherocytosis type 1 [RCV001728109] | likely pathogenic | 8 | 41695226 | 41695233 | Human | 1 | alternate_id |
| 150529680 | CV1289359 | single nucleotide variant | NM_000037.4(ANK1):c.3203G>A (p.Arg1068Gln) | Hereditary spherocytosis type 1 [RCV001728110] | uncertain significance | 8 | 41694716 | 41694716 | Human | 1 | alternate_id |
| 150529875 | CV1289360 | deletion | NM_000037.4(ANK1):c.3269del (p.Leu1090fs) | Hereditary spherocytosis type 1 [RCV001728111] | likely pathogenic | 8 | 41694650 | 41694650 | Human | 1 | alternate_id |
| 150520565 | CV1290435 | single nucleotide variant | NM_000037.4(ANK1):c.4098C>A (p.Cys1366Ter) | Hereditary spherocytosis type 1 [RCV001731173] | pathogenic | 8 | 41690233 | 41690233 | Human | 1 | alternate_id |
| 150544566 | CV1313424 | deletion | NM_000037.4(ANK1):c.2394_2397del (p.Ser799fs) | Hereditary spherocytosis type 1 [RCV001783502]|not provided [RCV002541152] | pathogenic|likely pathogenic | 8 | 41701614 | 41701617 | Human | 1 | alternate_id |
| 150548150 | CV1314173 | deletion | NM_000037.4(ANK1):c.1781_1794del (p.Ser594fs) | Hereditary spherocytosis type 1 [RCV001785926] | likely pathogenic | 8 | 41714162 | 41714175 | Human | 1 | alternate_id |
| 150548151 | CV1314174 | single nucleotide variant | NM_000037.4(ANK1):c.3928C>T (p.Gln1310Ter) | Hereditary spherocytosis type 1 [RCV001785927] | likely pathogenic | 8 | 41690530 | 41690530 | Human | 1 | alternate_id |
| 150548152 | CV1314175 | single nucleotide variant | NM_000037.4(ANK1):c.935C>A (p.Ala312Glu) | Hereditary spherocytosis type 1 [RCV001785928] | likely pathogenic|uncertain significance | 8 | 41719833 | 41719833 | Human | 1 | alternate_id |
| 150548155 | CV1314178 | deletion | NM_000037.4(ANK1):c.2768del (p.Gly923fs) | Hereditary spherocytosis type 1 [RCV001785931] | likely pathogenic | 8 | 41696555 | 41696555 | Human | 1 | alternate_id |
| 150548157 | CV1314180 | single nucleotide variant | NM_000037.4(ANK1):c.1895C>A (p.Ser632Ter) | Hereditary spherocytosis type 1 [RCV001785933] | likely pathogenic | 8 | 41708881 | 41708881 | Human | 1 | alternate_id |
| 150548160 | CV1314182 | deletion | NM_000037.4(ANK1):c.4835del (p.Gly1612fs) | Hereditary spherocytosis type 1 [RCV001785935] | likely pathogenic | 8 | 41672615 | 41672615 | Human | 1 | alternate_id |
| 151349858 | CV1321095 | single nucleotide variant | NM_000037.4(ANK1):c.2810T>C (p.Val937Ala) | Hereditary spherocytosis type 1 [RCV001803508] | uncertain significance | 8 | 41696513 | 41696513 | Human | 1 | alternate_id |
| 151349901 | CV1321158 | single nucleotide variant | NM_000037.4(ANK1):c.356C>G (p.Ala119Gly) | Hereditary spherocytosis type 1 [RCV001803571] | uncertain significance | 8 | 41727320 | 41727320 | Human | 1 | alternate_id |
| 151349939 | CV1321220 | single nucleotide variant | NM_000037.4(ANK1):c.1124T>G (p.Leu375Ter) | Hereditary spherocytosis type 1 [RCV001803633] | pathogenic | 8 | 41718188 | 41718188 | Human | 1 | alternate_id |
| 151349941 | CV1321232 | deletion | NM_000037.4(ANK1):c.2102del (p.Gly701fs) | Hereditary spherocytosis type 1 [RCV001803645] | pathogenic | 8 | 41704468 | 41704468 | Human | 1 | alternate_id |
| 151349513 | CV1321296 | single nucleotide variant | NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val) | Hereditary spherocytosis type 1 [RCV001802276] | likely benign|conflicting interpretations of pathogenicity | 8 | 41661509 | 41661509 | Human | 1 | alternate_id |
| 151349536 | CV1321341 | single nucleotide variant | NM_000037.4(ANK1):c.1265A>T (p.Asn422Ile) | Hereditary spherocytosis type 1 [RCV001802321] | uncertain significance | 8 | 41717644 | 41717644 | Human | 1 | alternate_id |
| 151349540 | CV1321345 | single nucleotide variant | NM_000037.4(ANK1):c.947A>G (p.Asp316Gly) | Hereditary spherocytosis type 1 [RCV001802325] | uncertain significance | 8 | 41719821 | 41719821 | Human | 1 | alternate_id |
| 151349575 | CV1321396 | single nucleotide variant | NM_000037.4(ANK1):c.5598G>A (p.Gly1866=) | Hereditary spherocytosis type 1 [RCV001802377] | likely benign | 8 | 41661511 | 41661511 | Human | 1 | alternate_id |
| 151349593 | CV1321439 | single nucleotide variant | NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter) | Hereditary spherocytosis type 1 [RCV001802420]|not provided [RCV001869471] | pathogenic | 8 | 41696520 | 41696520 | Human | 1 | alternate_id |
| 151349631 | CV1321486 | single nucleotide variant | NM_000037.4(ANK1):c.931A>G (p.Met311Val) | Hereditary spherocytosis type 1 [RCV001802467]|not provided [RCV005095183] | uncertain significance | 8 | 41719837 | 41719837 | Human | 1 | alternate_id |
| 151349679 | CV1321590 | deletion | NM_000037.4(ANK1):c.1135del (p.Cys379fs) | Hereditary spherocytosis type 1 [RCV001802572] | likely pathogenic | 8 | 41718177 | 41718177 | Human | 1 | alternate_id |
| 151349681 | CV1321591 | single nucleotide variant | NM_000037.4(ANK1):c.409C>T (p.Gln137Ter) | Hereditary spherocytosis type 1 [RCV001802573]|not provided [RCV003481130] | pathogenic|likely pathogenic | 8 | 41727267 | 41727267 | Human | 1 | alternate_id |
| 151349766 | CV1321719 | insertion | NM_000037.4(ANK1):c.5436_5437insCAGGG (p.Glu1813fs) | Hereditary spherocytosis type 1 [RCV001802703] | pathogenic | 8 | 41663700 | 41663701 | Human | 1 | alternate_id |
| 151348809 | CV1324232 | single nucleotide variant | NM_000037.4(ANK1):c.5108G>A (p.Trp1703Ter) | Hereditary spherocytosis type 1 [RCV001808148]|not provided [RCV005095216] | pathogenic|likely pathogenic | 8 | 41668553 | 41668553 | Human | 1 | alternate_id |
| 151662116 | CV1330242 | single nucleotide variant | NM_000037.4(ANK1):c.4444A>G (p.Met1482Val) | Hereditary spherocytosis type 1 [RCV001823654] | uncertain significance | 8 | 41684637 | 41684637 | Human | 1 | alternate_id |
| 151866593 | CV1411957 | single nucleotide variant | NM_000037.4(ANK1):c.4414C>T (p.Gln1472Ter) | Hereditary spherocytosis type 1 [RCV002291004]|not provided [RCV001884612] | pathogenic | 8 | 41684667 | 41684667 | Human | 1 | alternate_id |
| 151886695 | CV1441639 | single nucleotide variant | NM_000037.4(ANK1):c.856C>T (p.Arg286Ter) | Hereditary spherocytosis type 1 [RCV003490972]|not provided [RCV001942222] | pathogenic | 8 | 41723178 | 41723178 | Human | 1 | alternate_id |
| 8595022 | CV15545 | single nucleotide variant | NM_000037.4(ANK1):c.5005G>T (p.Glu1669Ter) | Hereditary spherocytosis type 1 [RCV000000535] | pathogenic | 8 | 41672445 | 41672445 | Human | 1 | alternate_id |
| 8595023 | CV15548 | single nucleotide variant | NM_000037.4(ANK1):c.5163G>A (p.Trp1721Ter) | Hereditary spherocytosis type 1 [RCV000000538]|not provided [RCV004791185] | pathogenic | 8 | 41668498 | 41668498 | Human | 1 | alternate_id |
| 155644208 | CV1668577 | single nucleotide variant | NM_000037.4(ANK1):c.5192C>G (p.Ser1731Ter) | Hereditary spherocytosis type 1 [RCV002291007] | pathogenic | 8 | 41668469 | 41668469 | Human | 1 | alternate_id |
| 155644209 | CV1668578 | duplication | NM_000037.4(ANK1):c.4157dup (p.Tyr1386Ter) | Hereditary spherocytosis type 1 [RCV002291008] | pathogenic | 8 | 41688536 | 41688537 | Human | 1 | alternate_id |
| 155644210 | CV1668579 | single nucleotide variant | NM_000037.4(ANK1):c.5071C>T (p.Gln1691Ter) | Hereditary spherocytosis type 1 [RCV002291009] | pathogenic | 8 | 41672379 | 41672379 | Human | 1 | alternate_id |
| 155644229 | CV1668598 | single nucleotide variant | NM_000037.4(ANK1):c.1365T>G (p.Tyr455Ter) | Hereditary spherocytosis type 1 [RCV002291029] | pathogenic | 8 | 41716992 | 41716992 | Human | 1 | alternate_id |
| 155644248 | CV1668617 | duplication | NM_000037.4(ANK1):c.3639_3649dup (p.Pro1217fs) | Hereditary spherocytosis type 1 [RCV002291048] | pathogenic | 8 | 41692856 | 41692857 | Human | 1 | alternate_id |
| 155644259 | CV1668627 | single nucleotide variant | NM_000037.4(ANK1):c.4204C>T (p.Gln1402Ter) | Hereditary spherocytosis type 1 [RCV002291058] | pathogenic | 8 | 41688210 | 41688210 | Human | 1 | alternate_id |
| 155644263 | CV1668631 | deletion | NM_000037.4(ANK1):c.3504_3514del (p.Ser1169fs) | Hereditary spherocytosis type 1 [RCV002291062] | pathogenic | 8 | 41693916 | 41693926 | Human | 1 | alternate_id |
| 155644264 | CV1668632 | microsatellite | NM_000037.4(ANK1):c.4819_4820del (p.Ser1607fs) | Hereditary spherocytosis type 1 [RCV002291063] | pathogenic | 8 | 41672630 | 41672631 | Human | | alternate_id |
| 152978067 | CV1671375 | deletion | NM_000037.4(ANK1):c.3275del (p.Gln1092fs) | Hereditary spherocytosis type 1 [RCV002227334] | pathogenic | 8 | 41694644 | 41694644 | Human | 1 | alternate_id |
| 152978084 | CV1671386 | single nucleotide variant | NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile) | Hereditary spherocytosis type 1 [RCV002227345]|Inborn genetic diseases [RCV005350927]|not provided [RCV005095787] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41694621 | 41694621 | Human | 2 | alternate_id |
| 153304795 | CV1690762 | single nucleotide variant | NM_000037.4(ANK1):c.3325C>T (p.Gln1109Ter) | Hereditary spherocytosis type 1 [RCV002269806] | pathogenic|likely pathogenic | 8 | 41694594 | 41694594 | Human | 1 | alternate_id |
| 156438301 | CV1696090 | deletion | NM_000037.4(ANK1):c.4140del (p.Leu1382fs) | Hereditary spherocytosis type 1 [RCV003108002] | pathogenic | 8 | 41688554 | 41688554 | Human | 1 | alternate_id |
| 156403206 | CV1904416 | single nucleotide variant | NM_000037.4(ANK1):c.1888G>A (p.Ala630Thr) | Hereditary spherocytosis type 1 [RCV003138521]|not provided [RCV002585164] | uncertain significance | 8 | 41708888 | 41708888 | Human | 1 | alternate_id |
| 156418909 | CV1918964 | single nucleotide variant | NM_000037.4(ANK1):c.1438A>G (p.Ile480Val) | Hereditary spherocytosis type 1 [RCV003140123]|not provided [RCV002612120] | uncertain significance | 8 | 41715816 | 41715816 | Human | 1 | alternate_id |
| 156305878 | CV1999834 | single nucleotide variant | NM_000037.4(ANK1):c.4501G>C (p.Asp1501His) | Hereditary spherocytosis type 1 [RCV003138330]|not provided [RCV002671380] | uncertain significance | 8 | 41684580 | 41684580 | Human | 1 | alternate_id |
| 156223364 | CV2121683 | single nucleotide variant | NM_000037.4(ANK1):c.2855G>A (p.Arg952His) | Hereditary spherocytosis type 1 [RCV003448473]|Inborn genetic diseases [RCV005356227]|not provided [RCV002958231] | uncertain significance | 8 | 41696468 | 41696468 | Human | 2 | alternate_id |
| 156204035 | CV2134872 | single nucleotide variant | NM_000037.4(ANK1):c.3487G>A (p.Gly1163Arg) | Hereditary spherocytosis type 1 [RCV005233050]|not provided [RCV002985329] | uncertain significance | 8 | 41693943 | 41693943 | Human | 1 | alternate_id |
| 156314765 | CV2144008 | single nucleotide variant | NM_000037.4(ANK1):c.1187C>T (p.Ser396Leu) | Hereditary spherocytosis type 1 [RCV003138435]|not provided [RCV003011318] | uncertain significance | 8 | 41718125 | 41718125 | Human | 1 | alternate_id |
| 156350014 | CV2146996 | single nucleotide variant | NM_000037.4(ANK1):c.3925C>T (p.Gln1309Ter) | Hereditary spherocytosis type 1 [RCV005254663]|not provided [RCV003030796] | pathogenic | 8 | 41690533 | 41690533 | Human | 1 | alternate_id |
| 155921250 | CV2212199 | single nucleotide variant | NM_000037.4(ANK1):c.1150G>A (p.Val384Ile) | Hereditary spherocytosis type 1 [RCV003140157]|Inborn genetic diseases [RCV002727473]|not provided [RCV004585004] | likely benign|uncertain significance | 8 | 41718162 | 41718162 | Human | 2 | alternate_id |
| 156291559 | CV2321124 | single nucleotide variant | NM_000037.4(ANK1):c.3641C>T (p.Ser1214Leu) | Hereditary spherocytosis type 1 [RCV003140190]|Inborn genetic diseases [RCV002935648] | uncertain significance | 8 | 41692865 | 41692865 | Human | 2 | alternate_id |
| 155920612 | CV2340306 | single nucleotide variant | NM_000037.4(ANK1):c.3235G>A (p.Glu1079Lys) | Hereditary spherocytosis type 1 [RCV003491291]|Inborn genetic diseases [RCV002969338] | uncertain significance | 8 | 41694684 | 41694684 | Human | 2 | alternate_id |
| 11351046 | CV237250 | single nucleotide variant | NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln) | Hereditary spherocytosis type 1 [RCV000385550]|Spherocytosis [RCV001165099]|not provided [RCV000224849] | pathogenic|benign|likely benign|uncertain significance | 8 | 41699515 | 41699515 | Human | 3 | alternate_id |
| 156390737 | CV2383364 | single nucleotide variant | NM_000037.4(ANK1):c.3220G>A (p.Asp1074Asn) | Hereditary spherocytosis type 1 [RCV003491302]|Inborn genetic diseases [RCV002724674] | uncertain significance | 8 | 41694699 | 41694699 | Human | 2 | alternate_id |
| 156448601 | CV2402008 | single nucleotide variant | NM_000037.4(ANK1):c.5233G>A (p.Gly1745Ser) | Hereditary spherocytosis type 1 [RCV003120167] | likely benign | 8 | 41668428 | 41668428 | Human | 1 | alternate_id |
| 243057910 | CV2405490 | deletion | NM_000037.4(ANK1):c.5323_5324del (p.Arg1775fs) | Hereditary spherocytosis type 1 [RCV003133711] | likely pathogenic | 8 | 41668337 | 41668338 | Human | 1 | alternate_id |
| 243053789 | CV2405684 | duplication | NM_000037.4(ANK1):c.3196_3199dup (p.Ser1067fs) | Hereditary spherocytosis type 1 [RCV003131335] | likely pathogenic | 8 | 41694719 | 41694720 | Human | 1 | alternate_id |
| 243058141 | CV2405757 | duplication | NM_000037.4(ANK1):c.3123dup (p.Ser1042fs) | Hereditary spherocytosis type 1 [RCV003133876] | likely pathogenic | 8 | 41694795 | 41694796 | Human | 1 | alternate_id |
| 243058197 | CV2405809 | single nucleotide variant | NM_000037.4(ANK1):c.1972C>T (p.Gln658Ter) | Hereditary spherocytosis type 1 [RCV003133904] | likely pathogenic | 8 | 41708804 | 41708804 | Human | 1 | alternate_id |
| 243059508 | CV2406304 | single nucleotide variant | NM_000037.4(ANK1):c.3073G>T (p.Gly1025Ter) | Hereditary spherocytosis type 1 [RCV003134995] | pathogenic | 8 | 41695219 | 41695219 | Human | 1 | alternate_id |
| 243055492 | CV2406313 | deletion | NM_000037.4(ANK1):c.4387_4390del (p.Asn1463fs) | Hereditary spherocytosis type 1 [RCV003132023] | pathogenic | 8 | 41686152 | 41686155 | Human | 1 | alternate_id |
| 243059517 | CV2406328 | single nucleotide variant | NM_000037.4(ANK1):c.3754C>T (p.Arg1252Ter) | Hereditary spherocytosis type 1 [RCV003135005]|Inborn genetic diseases [RCV004636717]|not provided [RCV003561183] | pathogenic | 8 | 41692752 | 41692752 | Human | 2 | alternate_id |
| 243052937 | CV2407708 | deletion | NM_000037.4(ANK1):c.5026del (p.His1676fs) | Hereditary spherocytosis type 1 [RCV003131131] | likely pathogenic | 8 | 41672424 | 41672424 | Human | 1 | alternate_id |
| 243053387 | CV2407917 | microsatellite | NM_000037.4(ANK1):c.3493_3496dup (p.Asp1166fs) | Hereditary spherocytosis type 1 [RCV003131202] | likely pathogenic | 8 | 41693933 | 41693934 | Human | | alternate_id |
| 243057768 | CV2408037 | deletion | NM_000037.4(ANK1):c.2320_2350del (p.Ala774fs) | Hereditary spherocytosis type 1 [RCV003133660] | likely pathogenic | 8 | 41702090 | 41702120 | Human | 1 | alternate_id |
| 243059028 | CV2410081 | single nucleotide variant | NM_000037.4(ANK1):c.1900C>T (p.Gln634Ter) | Hereditary spherocytosis type 1 [RCV003147255]|not provided [RCV003575043] | pathogenic|likely pathogenic | 8 | 41708876 | 41708876 | Human | 1 | alternate_id |
| 243053106 | CV2410142 | single nucleotide variant | NM_000037.4(ANK1):c.4771G>T (p.Glu1591Ter) | Hereditary spherocytosis type 1 [RCV003144028] | likely pathogenic | 8 | 41672679 | 41672679 | Human | 1 | alternate_id |
| 243053240 | CV2410161 | deletion | NM_000037.4(ANK1):c.3123del (p.Ser1042fs) | Hereditary spherocytosis type 1 [RCV003144047]|not provided [RCV004790490] | likely pathogenic | 8 | 41694796 | 41694796 | Human | 1 | alternate_id |
| 243053322 | CV2410172 | microsatellite | NM_000037.4(ANK1):c.3893_3894del (p.Ser1298fs) | Hereditary spherocytosis type 1 [RCV003144058] | pathogenic|likely pathogenic | 8 | 41690564 | 41690565 | Human | | alternate_id |
| 243064745 | CV2410265 | single nucleotide variant | NM_000037.4(ANK1):c.3550C>T (p.Gln1184Ter) | Hereditary spherocytosis type 1 [RCV003143448] | likely pathogenic | 8 | 41693184 | 41693184 | Human | 1 | alternate_id |
| 243057727 | CV2410332 | deletion | NM_000037.4(ANK1):c.441_466del (p.Pro147_Leu148insTer) | Hereditary spherocytosis type 1 [RCV003132667] | likely pathogenic | 8 | 41725907 | 41725932 | Human | 1 | alternate_id |
| 243063311 | CV2411650 | single nucleotide variant | NM_000037.4(ANK1):c.3857A>G (p.Glu1286Gly) | Hereditary spherocytosis type 1 [RCV003141373] | uncertain significance | 8 | 41692649 | 41692649 | Human | 1 | alternate_id |
| 243063312 | CV2411651 | single nucleotide variant | NM_000037.4(ANK1):c.5333G>A (p.Arg1778Lys) | Hereditary spherocytosis type 1 [RCV003141374] | uncertain significance | 8 | 41668328 | 41668328 | Human | 1 | alternate_id |
| 243063314 | CV2411653 | single nucleotide variant | NM_000037.4(ANK1):c.2572G>C (p.Ala858Pro) | Hereditary spherocytosis type 1 [RCV003141376] | uncertain significance | 8 | 41698108 | 41698108 | Human | 1 | alternate_id |
| 243063315 | CV2411654 | single nucleotide variant | NM_000037.4(ANK1):c.3727G>A (p.Val1243Ile) | Hereditary spherocytosis type 1 [RCV003141377]|not provided [RCV004790487] | uncertain significance | 8 | 41692779 | 41692779 | Human | 1 | alternate_id |
| 243063316 | CV2411655 | single nucleotide variant | NM_000037.4(ANK1):c.3829G>C (p.Val1277Leu) | Hereditary spherocytosis [RCV005356364]|Hereditary spherocytosis type 1 [RCV003141378]|not provided [RCV003548988] | uncertain significance | 8 | 41692677 | 41692677 | Human | 2 | alternate_id |
| 243063317 | CV2411656 | single nucleotide variant | NM_000037.4(ANK1):c.5126T>C (p.Ile1709Thr) | Hereditary spherocytosis type 1 [RCV003141379]|Inborn genetic diseases [RCV003164851] | uncertain significance | 8 | 41668535 | 41668535 | Human | 2 | alternate_id |
| 243063320 | CV2411659 | single nucleotide variant | NM_000037.4(ANK1):c.5189A>T (p.His1730Leu) | Hereditary spherocytosis type 1 [RCV003141382] | uncertain significance | 8 | 41668472 | 41668472 | Human | 1 | alternate_id |
| 243063323 | CV2411662 | deletion | NM_000037.4(ANK1):c.4694_4711del (p.Asp1565_Ser1570del) | Hereditary spherocytosis type 1 [RCV003141385] | uncertain significance | 8 | 41672739 | 41672756 | Human | 1 | alternate_id |
| 243063324 | CV2411663 | single nucleotide variant | NM_000037.4(ANK1):c.3049T>G (p.Trp1017Gly) | Hereditary spherocytosis type 1 [RCV003141386] | uncertain significance | 8 | 41695243 | 41695243 | Human | 1 | alternate_id |
| 243063326 | CV2411665 | single nucleotide variant | NM_000037.4(ANK1):c.1910C>T (p.Thr637Met) | Hereditary spherocytosis type 1 [RCV003141388] | uncertain significance | 8 | 41708866 | 41708866 | Human | 1 | alternate_id |
| 243063327 | CV2411666 | single nucleotide variant | NM_000037.4(ANK1):c.1435C>T (p.Arg479Cys) | Hereditary spherocytosis type 1 [RCV003141389]|Inborn genetic diseases [RCV003274344] | uncertain significance | 8 | 41715819 | 41715819 | Human | 2 | alternate_id |
| 243063330 | CV2411669 | single nucleotide variant | NM_000037.4(ANK1):c.1303G>A (p.Val435Met) | Hereditary spherocytosis type 1 [RCV003141392] | uncertain significance | 8 | 41717606 | 41717606 | Human | 1 | alternate_id |
| 243058527 | CV2411670 | single nucleotide variant | NM_000037.4(ANK1):c.1786C>A (p.His596Asn) | Hereditary spherocytosis type 1 [RCV003141393] | uncertain significance | 8 | 41714170 | 41714170 | Human | 1 | alternate_id |
| 243063387 | CV2411671 | single nucleotide variant | NM_000037.4(ANK1):c.3019G>A (p.Val1007Met) | Hereditary spherocytosis type 1 [RCV003141394] | uncertain significance | 8 | 41695273 | 41695273 | Human | 1 | alternate_id |
| 243063333 | CV2411673 | single nucleotide variant | NM_000037.4(ANK1):c.3387C>A (p.Ser1129Arg) | Hereditary spherocytosis type 1 [RCV003141396] | uncertain significance | 8 | 41694043 | 41694043 | Human | 1 | alternate_id |
| 243063336 | CV2411676 | single nucleotide variant | NM_000037.4(ANK1):c.3395T>A (p.Val1132Asp) | Hereditary spherocytosis type 1 [RCV003141399]|not provided [RCV003720770] | uncertain significance | 8 | 41694035 | 41694035 | Human | 1 | alternate_id |
| 243063337 | CV2411677 | single nucleotide variant | NM_000037.4(ANK1):c.2971G>A (p.Val991Met) | Hereditary spherocytosis type 1 [RCV003141400] | uncertain significance | 8 | 41695321 | 41695321 | Human | 1 | alternate_id |
| 243063339 | CV2411679 | single nucleotide variant | NM_000037.4(ANK1):c.5372A>T (p.Asn1791Ile) | Hemolytic anemia [RCV003234602]|Hereditary spherocytosis type 1 [RCV003141402] | uncertain significance | 8 | 41668289 | 41668289 | Human | 3 | alternate_id |
| 243063340 | CV2411680 | single nucleotide variant | NM_000037.4(ANK1):c.5606T>G (p.Ile1869Arg) | Hereditary spherocytosis type 1 [RCV003141403] | uncertain significance | 8 | 41661503 | 41661503 | Human | 1 | alternate_id |
| 243063341 | CV2411681 | single nucleotide variant | NM_000037.4(ANK1):c.1540G>T (p.Gly514Cys) | Hereditary spherocytosis type 1 [RCV003141404] | uncertain significance | 8 | 41715714 | 41715714 | Human | 1 | alternate_id |
| 243058529 | CV2411682 | single nucleotide variant | NM_000037.4(ANK1):c.4427G>T (p.Arg1476Leu) | Hereditary spherocytosis type 1 [RCV003141405] | uncertain significance | 8 | 41684654 | 41684654 | Human | 1 | alternate_id |
| 243063345 | CV2411686 | single nucleotide variant | NM_000037.4(ANK1):c.3946C>G (p.Gln1316Glu) | Hereditary spherocytosis type 1 [RCV003141409] | uncertain significance | 8 | 41690512 | 41690512 | Human | 1 | alternate_id |
| 243063346 | CV2411687 | single nucleotide variant | NM_000037.4(ANK1):c.3763C>T (p.Arg1255Cys) | Hereditary spherocytosis type 1 [RCV003141410]|not provided [RCV004809971] | conflicting interpretations of pathogenicity|uncertain significance | 8 | 41692743 | 41692743 | Human | 1 | alternate_id |
| 243059746 | CV2412507 | deletion | NM_000037.4(ANK1):c.4267del (p.Arg1423fs) | Hereditary spherocytosis type 1 [RCV003135305] | likely pathogenic | 8 | 41686275 | 41686275 | Human | 1 | alternate_id |
| 243052181 | CV2412555 | deletion | NM_000037.4(ANK1):c.4779_4780del (p.Asp1594fs) | Hereditary spherocytosis type 1 [RCV003130989] | likely pathogenic | 8 | 41672670 | 41672671 | Human | 1 | alternate_id |
| 243059948 | CV2412722 | single nucleotide variant | NM_000037.4(ANK1):c.1585C>T (p.Gln529Ter) | Hereditary spherocytosis type 1 [RCV003135414] | likely pathogenic | 8 | 41715669 | 41715669 | Human | 1 | alternate_id |
| 243059906 | CV2412827 | duplication | NM_000037.4(ANK1):c.5076dup (p.Thr1693fs) | Hereditary spherocytosis type 1 [RCV003135484] | likely pathogenic | 8 | 41672373 | 41672374 | Human | 1 | alternate_id |
| 243058353 | CV2412942 | single nucleotide variant | NM_000037.4(ANK1):c.3777C>G (p.Tyr1259Ter) | Hereditary spherocytosis type 1 [RCV003133983] | likely pathogenic | 8 | 41692729 | 41692729 | Human | 1 | alternate_id |
| 243054348 | CV2413052 | deletion | NM_000037.4(ANK1):c.4092_4101del (p.Pro1365fs) | Hereditary spherocytosis type 1 [RCV003131467] | likely pathogenic | 8 | 41690230 | 41690239 | Human | 1 | alternate_id |
| 243054153 | CV2413092 | deletion | NM_000037.4(ANK1):c.1381_1382del (p.Ala461fs) | Hereditary spherocytosis type 1 [RCV003131483] | likely pathogenic | 8 | 41716975 | 41716976 | Human | 1 | alternate_id |
| 243054371 | CV2413173 | deletion | NM_000037.4(ANK1):c.4886del (p.Asp1629fs) | Hereditary spherocytosis type 1 [RCV003131515] | likely pathogenic | 8 | 41672564 | 41672564 | Human | 1 | alternate_id |
| 243057708 | CV2413260 | deletion | NM_000037.4(ANK1):c.4529del (p.Gln1510fs) | Hereditary spherocytosis type 1 [RCV003131547] | likely pathogenic | 8 | 41684552 | 41684552 | Human | 1 | alternate_id |
| 243050371 | CV2415473 | single nucleotide variant | NM_000037.4(ANK1):c.1828G>T (p.Ala610Ser) | Hereditary spherocytosis type 1 [RCV003148043] | uncertain significance | 8 | 41708948 | 41708948 | Human | 1 | alternate_id |
| 329388232 | CV2437223 | single nucleotide variant | NM_000037.4(ANK1):c.1228G>A (p.Val410Met) | Hereditary spherocytosis type 1 [RCV003992749]|Inborn genetic diseases [RCV003190513] | uncertain significance | 8 | 41717681 | 41717681 | Human | 2 | alternate_id |
| 11544312 | CV253112 | single nucleotide variant | NM_000037.4(ANK1):c.5265G>A (p.Val1755=) | Hereditary spherocytosis type 1 [RCV000611925]|Spherocytosis [RCV001161009]|not provided [RCV001683096]|not specified [RCV000243612] | benign|likely benign | 8 | 41668396 | 41668396 | Human | 3 | alternate_id |
| 11547221 | CV253114 | single nucleotide variant | NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) | Hereditary spherocytosis type 1 [RCV000282509]|Spherocytosis [RCV001164659]|not provided [RCV000969890]|not specified [RCV000247478] | benign|likely benign|uncertain significance | 8 | 41672476 | 41672476 | Human | 6 | alternate_id |
| 11547221 | CV253114 | single nucleotide variant | NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) | Hereditary spherocytosis type 1 [RCV000282509]|Spherocytosis [RCV001164659]|not provided [RCV000969890]|not specified [RCV000247478] | benign|likely benign|uncertain significance | 8 | 41672476 | 41672477 | Human | 6 | alternate_id |
| 11550706 | CV253115 | single nucleotide variant | NM_000037.4(ANK1):c.4506C>T (p.Arg1502=) | Hereditary spherocytosis type 1 [RCV000308048]|Spherocytosis [RCV001159739]|not provided [RCV002058302]|not specified [RCV000252101] | benign|likely benign | 8 | 41684575 | 41684575 | Human | 16 | alternate_id |
| 11550706 | CV253115 | single nucleotide variant | NM_000037.4(ANK1):c.4506C>T (p.Arg1502=) | Hereditary spherocytosis type 1 [RCV000308048]|Spherocytosis [RCV001159739]|not provided [RCV002058302]|not specified [RCV000252101] | benign|likely benign | 8 | 41684575 | 41684576 | Human | 16 | alternate_id |
| 11543826 | CV253117 | single nucleotide variant | NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) | Hereditary spherocytosis type 1 [RCV000406426]|Spherocytosis [RCV001161138]|not provided [RCV002058301]|not specified [RCV000242980] | benign|likely benign | 8 | 41686157 | 41686157 | Human | 25 | alternate_id |
| 11543826 | CV253117 | single nucleotide variant | NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) | Hereditary spherocytosis type 1 [RCV000406426]|Spherocytosis [RCV001161138]|not provided [RCV002058301]|not specified [RCV000242980] | benign|likely benign | 8 | 41686157 | 41686158 | Human | 25 | alternate_id |
| 11551300 | CV253118 | single nucleotide variant | NM_000037.4(ANK1):c.4101C>T (p.Ala1367=) | Hereditary spherocytosis type 1 [RCV000267243]|Spherocytosis [RCV001164758]|not provided [RCV001660343]|not specified [RCV000252857] | benign|likely benign | 8 | 41690230 | 41690230 | Human | 3 | alternate_id |
| 11547392 | CV253119 | single nucleotide variant | NM_000037.4(ANK1):c.4008G>A (p.Pro1336=) | Hereditary spherocytosis type 1 [RCV001000209]|Spherocytosis [RCV001159844]|not provided [RCV002058300]|not specified [RCV000247698] | benign|likely benign|uncertain significance | 8 | 41690323 | 41690323 | Human | 3 | alternate_id |
| 11543766 | CV253120 | single nucleotide variant | NM_000037.4(ANK1):c.3973A>G (p.Met1325Val) | Hereditary spherocytosis type 1 [RCV000388799]|Spherocytosis [RCV001161250]|not provided [RCV002058299]|not specified [RCV000242898] | benign|likely benign | 8 | 41690485 | 41690485 | Human | 3 | alternate_id |
| 11549061 | CV253121 | single nucleotide variant | NM_000037.4(ANK1):c.3486C>T (p.Ser1162=) | Hereditary spherocytosis type 1 [RCV000407847]|Spherocytosis [RCV001161361]|not provided [RCV002058298]|not specified [RCV000249927] | benign|likely benign | 8 | 41693944 | 41693944 | Human | 3 | alternate_id |
| 11545447 | CV253122 | single nucleotide variant | NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) | Hereditary spherocytosis type 1 [RCV001001485]|not provided [RCV000967845]|not specified [RCV000245152] | benign|likely benign | 8 | 41694695 | 41694695 | Human | 1 | alternate_id |
| 11544717 | CV253129 | single nucleotide variant | NM_000037.4(ANK1):c.1856G>A (p.Arg619His) | Hereditary spherocytosis type 1 [RCV000363206]|Spherocytosis [RCV001163124]|not provided [RCV001706357]|not specified [RCV000244163] | benign|likely benign|conflicting interpretations of pathogenicity | 8 | 41708920 | 41708920 | Human | 3 | alternate_id |
| 11543046 | CV253134 | single nucleotide variant | NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser) | Hereditary spherocytosis type 1 [RCV001161705]|Spherocytosis [RCV001161704]|not provided [RCV000911518]|not specified [RCV000241940] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41715770 | 41715770 | Human | 3 | alternate_id |
| 11551639 | CV253137 | single nucleotide variant | NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) | Hereditary spherocytosis type 1 [RCV001001521]|Spherocytosis [RCV001161930]|not provided [RCV002058303]|not specified [RCV000253299] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41724513 | 41724513 | Human | 3 | alternate_id |
| 329953530 | CV2670312 | single nucleotide variant | NM_000037.4(ANK1):c.2632G>T (p.Glu878Ter) | Hereditary spherocytosis type 1 [RCV003234618] | likely pathogenic | 8 | 41698048 | 41698048 | Human | 1 | alternate_id |
| 329955035 | CV2670974 | single nucleotide variant | NM_000037.4(ANK1):c.4783G>A (p.Ala1595Thr) | Hereditary spherocytosis type 1 [RCV003236243] | uncertain significance | 8 | 41672667 | 41672667 | Human | 1 | alternate_id |
| 329951806 | CV2671461 | single nucleotide variant | NM_000037.4(ANK1):c.3598T>C (p.Cys1200Arg) | Hereditary spherocytosis type 1 [RCV003236685] | uncertain significance | 8 | 41693136 | 41693136 | Human | 1 | alternate_id |
| 329951872 | CV2671475 | deletion | NM_000037.4(ANK1):c.4040_4041del (p.Met1347fs) | Hereditary spherocytosis type 1 [RCV003236699] | pathogenic | 8 | 41690290 | 41690291 | Human | 1 | alternate_id |
| 401773807 | CV2691414 | single nucleotide variant | NM_000037.4(ANK1):c.2011C>T (p.Pro671Ser) | Hereditary spherocytosis type 1 [RCV005230476]|Inborn genetic diseases [RCV003285529] | uncertain significance | 8 | 41706229 | 41706229 | Human | 2 | alternate_id |
| 401856290 | CV2752417 | single nucleotide variant | NM_000037.4(ANK1):c.2447T>A (p.Val816Asp) | Hereditary spherocytosis type 1 [RCV003340754] | uncertain significance | 8 | 41701564 | 41701564 | Human | 1 | alternate_id |
| 401919650 | CV2794919 | single nucleotide variant | NM_000037.4(ANK1):c.1729G>A (p.Val577Ile) | Hereditary spherocytosis type 1 [RCV003388665] | uncertain significance | 8 | 41714227 | 41714227 | Human | 1 | alternate_id |
| 401920143 | CV2795038 | duplication | NM_000037.4(ANK1):c.3974_3981dup (p.Lys1328delinsCysLeuTer) | Hereditary spherocytosis type 1 [RCV003388784] | likely pathogenic | 8 | 41690476 | 41690477 | Human | 1 | alternate_id |
| 401940264 | CV2832550 | single nucleotide variant | NM_000037.4(ANK1):c.3050G>C (p.Trp1017Ser) | Hereditary spherocytosis type 1 [RCV003448530] | likely pathogenic | 8 | 41695242 | 41695242 | Human | 1 | alternate_id |
| 401940315 | CV2839168 | deletion | NM_000037.4(ANK1):c.3151del (p.Val1051fs) | Hereditary spherocytosis type 1 [RCV003448726] | likely pathogenic | 8 | 41694768 | 41694768 | Human | 1 | alternate_id |
| 401940364 | CV2839216 | single nucleotide variant | NM_000037.4(ANK1):c.4538G>A (p.Gly1513Asp) | Hereditary spherocytosis type 1 [RCV003448774] | uncertain significance | 8 | 41672912 | 41672912 | Human | 1 | alternate_id |
| 401961721 | CV2844043 | single nucleotide variant | NM_000037.4(ANK1):c.1054A>G (p.Arg352Gly) | Hereditary spherocytosis [RCV005356451]|Hereditary spherocytosis type 1 [RCV005230515]|not provided [RCV003481883] | uncertain significance | 8 | 41719714 | 41719714 | Human | 2 | alternate_id |
| 404988452 | CV2849585 | single nucleotide variant | NM_000037.4(ANK1):c.2369C>T (p.Thr790Met) | Hereditary spherocytosis type 1 [RCV003490440] | uncertain significance | 8 | 41702071 | 41702071 | Human | 1 | alternate_id |
| 404984012 | CV2849586 | single nucleotide variant | NM_000037.4(ANK1):c.5096G>A (p.Arg1699Lys) | Hereditary spherocytosis type 1 [RCV003490441]|not provided [RCV003699120] | uncertain significance | 8 | 41672354 | 41672354 | Human | 1 | alternate_id |
| 404983377 | CV2849587 | single nucleotide variant | NM_000037.4(ANK1):c.4492C>T (p.Arg1498Trp) | Hereditary spherocytosis type 1 [RCV003490442]|not provided [RCV003738479] | uncertain significance | 8 | 41684589 | 41684589 | Human | 1 | alternate_id |
| 404988458 | CV2849588 | single nucleotide variant | NM_000037.4(ANK1):c.4114G>A (p.Ala1372Thr) | Hereditary spherocytosis type 1 [RCV003490443] | uncertain significance | 8 | 41688580 | 41688580 | Human | 1 | alternate_id |
| 404988463 | CV2849589 | single nucleotide variant | NM_000037.4(ANK1):c.1351G>A (p.Glu451Lys) | Hereditary spherocytosis type 1 [RCV003490444] | uncertain significance | 8 | 41717006 | 41717006 | Human | 1 | alternate_id |
| 404988482 | CV2849591 | single nucleotide variant | NM_000037.4(ANK1):c.5282C>T (p.Thr1761Met) | Hereditary spherocytosis type 1 [RCV003490446]|Inborn genetic diseases [RCV004985373] | uncertain significance | 8 | 41668379 | 41668379 | Human | 2 | alternate_id |
| 404983386 | CV2849592 | single nucleotide variant | NM_000037.4(ANK1):c.2294C>T (p.Ser765Leu) | Hereditary spherocytosis type 1 [RCV003490447] | uncertain significance | 8 | 41704042 | 41704042 | Human | 1 | alternate_id |
| 404988489 | CV2849593 | single nucleotide variant | NM_000037.4(ANK1):c.1982G>A (p.Gly661Asp) | Hereditary spherocytosis type 1 [RCV003490448] | uncertain significance | 8 | 41708794 | 41708794 | Human | 1 | alternate_id |
| 404988496 | CV2849594 | single nucleotide variant | NM_000037.4(ANK1):c.4370G>A (p.Arg1457His) | Hereditary spherocytosis type 1 [RCV003490449]|not provided [RCV004790572] | uncertain significance | 8 | 41686172 | 41686172 | Human | 1 | alternate_id |
| 404988503 | CV2849595 | single nucleotide variant | NM_000037.4(ANK1):c.5033G>T (p.Arg1678Met) | Hereditary spherocytosis type 1 [RCV003490450] | uncertain significance | 8 | 41672417 | 41672417 | Human | 1 | alternate_id |
| 402477267 | CV2849596 | single nucleotide variant | NM_000037.4(ANK1):c.2539G>T (p.Val847Leu) | Hereditary spherocytosis type 1 [RCV003490451]|Inborn genetic diseases [RCV004364863]|not provided [RCV003779235] | uncertain significance | 8 | 41699471 | 41699471 | Human | 2 | alternate_id |
| 404988518 | CV2849598 | single nucleotide variant | NM_000037.4(ANK1):c.3820G>A (p.Glu1274Lys) | Hereditary spherocytosis type 1 [RCV003490453] | uncertain significance | 8 | 41692686 | 41692686 | Human | 1 | alternate_id |
| 404988524 | CV2849599 | single nucleotide variant | NM_000037.4(ANK1):c.1028A>C (p.His343Pro) | Hereditary spherocytosis type 1 [RCV003490454] | uncertain significance | 8 | 41719740 | 41719740 | Human | 1 | alternate_id |
| 404989793 | CV2849600 | single nucleotide variant | NM_000037.4(ANK1):c.2924T>C (p.Ile975Thr) | Hereditary spherocytosis type 1 [RCV003490455] | uncertain significance | 8 | 41696399 | 41696399 | Human | 1 | alternate_id |
| 404989798 | CV2849601 | single nucleotide variant | NM_000037.4(ANK1):c.2234G>A (p.Gly745Glu) | Hereditary spherocytosis type 1 [RCV003490456]|Inborn genetic diseases [RCV004364864] | uncertain significance | 8 | 41704102 | 41704102 | Human | 2 | alternate_id |
| 404988551 | CV2849603 | single nucleotide variant | NM_000037.4(ANK1):c.4104G>C (p.Lys1368Asn) | Hereditary spherocytosis type 1 [RCV003490458] | uncertain significance | 8 | 41690227 | 41690227 | Human | 1 | alternate_id |
| 404988555 | CV2849604 | single nucleotide variant | NM_000037.4(ANK1):c.2510T>C (p.Val837Ala) | Hereditary spherocytosis type 1 [RCV003490459] | uncertain significance | 8 | 41699500 | 41699500 | Human | 1 | alternate_id |
| 404984174 | CV2851544 | single nucleotide variant | NM_000037.4(ANK1):c.3050G>A (p.Trp1017Ter) | Hereditary spherocytosis type 1 [RCV003489295] | likely pathogenic | 8 | 41695242 | 41695242 | Human | 1 | alternate_id |
| 404984177 | CV2851545 | deletion | NM_000037.4(ANK1):c.3841del (p.Arg1281fs) | Hereditary spherocytosis type 1 [RCV003489296] | likely pathogenic | 8 | 41692665 | 41692665 | Human | 1 | alternate_id |
| 404984189 | CV2851547 | single nucleotide variant | NM_000037.4(ANK1):c.5500C>T (p.Gln1834Ter) | Hereditary spherocytosis type 1 [RCV003489298] | likely pathogenic | 8 | 41661920 | 41661920 | Human | 1 | alternate_id |
| 404984207 | CV2851551 | microsatellite | NM_000037.4(ANK1):c.4599_4600del (p.Pro1534fs) | Hereditary spherocytosis type 1 [RCV003489302] | likely pathogenic | 8 | 41672850 | 41672851 | Human | | alternate_id |
| 404984210 | CV2851552 | microsatellite | NM_000037.4(ANK1):c.5374_5375del (p.Thr1792fs) | Hereditary spherocytosis type 1 [RCV003489303] | likely pathogenic | 8 | 41668286 | 41668287 | Human | | alternate_id |
| 404984223 | CV2851555 | single nucleotide variant | NM_000037.4(ANK1):c.1930C>T (p.Gln644Ter) | Hereditary spherocytosis type 1 [RCV003489306] | likely pathogenic | 8 | 41708846 | 41708846 | Human | 1 | alternate_id |
| 404984230 | CV2851556 | deletion | NM_000037.4(ANK1):c.3954del (p.Arg1319fs) | Hereditary spherocytosis type 1 [RCV003489307] | likely pathogenic | 8 | 41690504 | 41690504 | Human | 1 | alternate_id |
| 404984248 | CV2851559 | deletion | NM_000037.4(ANK1):c.2148_2157del (p.Val717fs) | Hereditary spherocytosis type 1 [RCV003489310] | likely pathogenic | 8 | 41704413 | 41704422 | Human | 1 | alternate_id |
| 404984253 | CV2851560 | deletion | NM_000037.4(ANK1):c.5164del (p.Gln1722fs) | Hereditary spherocytosis type 1 [RCV003489311] | likely pathogenic | 8 | 41668497 | 41668497 | Human | 1 | alternate_id |
| 404984258 | CV2851561 | insertion | NM_000037.4(ANK1):c.3150_3151insAAGG (p.Val1051fs) | Hereditary spherocytosis type 1 [RCV003489312] | likely pathogenic | 8 | 41694768 | 41694769 | Human | 1 | alternate_id |
| 404984267 | CV2851563 | deletion | NM_000037.4(ANK1):c.4492_4493del (p.Arg1498fs) | Hereditary spherocytosis type 1 [RCV003489314] | likely pathogenic | 8 | 41684588 | 41684589 | Human | 1 | alternate_id |
| 404984272 | CV2851564 | deletion | NM_000037.4(ANK1):c.511_541del (p.Lys171fs) | Hereditary spherocytosis type 1 [RCV003489315] | likely pathogenic | 8 | 41725832 | 41725862 | Human | 1 | alternate_id |
| 404984278 | CV2851565 | deletion | NM_000037.4(ANK1):c.47_50del (p.Ser15_Phe16insTer) | Hereditary spherocytosis type 1 [RCV003489316] | likely pathogenic | 8 | 41758115 | 41758118 | Human | 1 | alternate_id |
| 404984282 | CV2851566 | deletion | NM_000037.4(ANK1):c.4835_4847del (p.Gly1612fs) | Hereditary spherocytosis type 1 [RCV003489317] | likely pathogenic | 8 | 41672603 | 41672615 | Human | 1 | alternate_id |
| 404984295 | CV2851569 | deletion | NM_000037.4(ANK1):c.547_559del (p.Asn183fs) | Hereditary spherocytosis type 1 [RCV003489320] | likely pathogenic | 8 | 41725814 | 41725826 | Human | 1 | alternate_id |
| 404984301 | CV2851570 | deletion | NM_000037.4(ANK1):c.3563_3564del (p.Ile1188fs) | Hereditary spherocytosis type 1 [RCV003489321] | likely pathogenic | 8 | 41693170 | 41693171 | Human | 1 | alternate_id |
| 404984306 | CV2851571 | single nucleotide variant | NM_000037.4(ANK1):c.1933G>T (p.Glu645Ter) | Hereditary spherocytosis type 1 [RCV003489322] | likely pathogenic | 8 | 41708843 | 41708843 | Human | 1 | alternate_id |
| 404984312 | CV2851572 | single nucleotide variant | NM_000037.4(ANK1):c.1537G>T (p.Glu513Ter) | Hereditary spherocytosis type 1 [RCV003489323] | likely pathogenic | 8 | 41715717 | 41715717 | Human | 1 | alternate_id |
| 404986145 | CV2897450 | single nucleotide variant | NM_000037.4(ANK1):c.1657G>T (p.Glu553Ter) | Hereditary spherocytosis type 1 [RCV003741359]|not provided [RCV003563127] | pathogenic | 8 | 41715020 | 41715020 | Human | 1 | alternate_id |
| 11606205 | CV305272 | single nucleotide variant | NM_000037.4(ANK1):c.5614C>T (p.Arg1872Trp) | Hereditary spherocytosis type 1 [RCV000328561]|Spherocytosis [RCV001164544] | uncertain significance | 8 | 41661495 | 41661495 | Human | 3 | alternate_id |
| 11654485 | CV305279 | single nucleotide variant | NM_000037.4(ANK1):c.5008G>A (p.Val1670Met) | Hereditary spherocytosis type 1 [RCV000317785]|Spherocytosis [RCV001162603] | uncertain significance | 8 | 41672442 | 41672442 | Human | 3 | alternate_id |
| 11607536 | CV305295 | single nucleotide variant | NM_000037.4(ANK1):c.3652C>T (p.Arg1218Trp) | Hereditary spherocytosis type 1 [RCV000344876]|Spherocytosis [RCV001164868]|not provided [RCV000415950] | conflicting interpretations of pathogenicity|uncertain significance | 8 | 41692854 | 41692854 | Human | 3 | alternate_id |
| 11600468 | CV305309 | single nucleotide variant | NM_000037.4(ANK1):c.1628C>T (p.Ala543Val) | Hereditary spherocytosis type 1 [RCV000273925]|Inborn genetic diseases [RCV004984853]|Spherocytosis [RCV001165204] | uncertain significance | 8 | 41715049 | 41715049 | Human | 4 | alternate_id |
| 11608181 | CV305312 | single nucleotide variant | NM_000037.4(ANK1):c.1178C>T (p.Thr393Met) | Hereditary spherocytosis type 1 [RCV000351772]|Spherocytosis [RCV001158607]|not provided [RCV001508244] | uncertain significance | 8 | 41718134 | 41718134 | Human | 3 | alternate_id |
| 11655388 | CV305327 | single nucleotide variant | NM_000037.4(ANK1):c.617G>A (p.Gly206Glu) | Hereditary spherocytosis type 1 [RCV000325358]|Spherocytosis [RCV001163451] | uncertain significance | 8 | 41724550 | 41724550 | Human | 3 | alternate_id |
| 405057033 | CV3081316 | single nucleotide variant | NM_000037.4(ANK1):c.2395A>C (p.Ser799Arg) | Hereditary spherocytosis type 1 [RCV003741138] | uncertain significance | 8 | 41701616 | 41701616 | Human | 1 | alternate_id |
| 405057040 | CV3081337 | single nucleotide variant | NM_000037.4(ANK1):c.3178C>A (p.Pro1060Thr) | Hereditary spherocytosis type 1 [RCV003741139] | uncertain significance | 8 | 41694741 | 41694741 | Human | 1 | alternate_id |
| 405057095 | CV3081465 | single nucleotide variant | NM_000037.4(ANK1):c.5530C>T (p.Gln1844Ter) | Hereditary spherocytosis type 1 [RCV003741146] | pathogenic | 8 | 41661890 | 41661890 | Human | 1 | alternate_id |
| 405061580 | CV3081565 | single nucleotide variant | NM_000037.4(ANK1):c.3553T>G (p.Trp1185Gly) | Hereditary spherocytosis type 1 [RCV003741613] | uncertain significance | 8 | 41693181 | 41693181 | Human | 1 | alternate_id |
| 405061600 | CV3081650 | deletion | NM_000037.4(ANK1):c.5298del (p.Glu1767fs) | Hereditary spherocytosis type 1 [RCV003741616] | pathogenic | 8 | 41668363 | 41668363 | Human | 1 | alternate_id |
| 11600959 | CV309076 | single nucleotide variant | NM_000037.4(ANK1):c.5045G>A (p.Arg1682Gln) | Hereditary spherocytosis type 1 [RCV000278155]|Spherocytosis [RCV001162602]|not provided [RCV001861323] | conflicting interpretations of pathogenicity|uncertain significance | 8 | 41672405 | 41672405 | Human | 3 | alternate_id |
| 11611813 | CV309078 | single nucleotide variant | NM_000037.4(ANK1):c.4636G>A (p.Val1546Ile) | Hereditary spherocytosis type 1 [RCV000400129]|Spherocytosis [RCV001164660] | uncertain significance | 8 | 41672814 | 41672814 | Human | 3 | alternate_id |
| 11607370 | CV309087 | single nucleotide variant | NM_000037.4(ANK1):c.3399C>T (p.Thr1133=) | Hereditary spherocytosis type 1 [RCV000342943]|Spherocytosis [RCV001161365]|not provided [RCV000962919] | benign|likely benign|uncertain significance | 8 | 41694031 | 41694031 | Human | 3 | alternate_id |
| 11603290 | CV309091 | single nucleotide variant | NM_000037.4(ANK1):c.3282G>A (p.Thr1094=) | Hereditary spherocytosis type 1 [RCV000298525]|Spherocytosis [RCV001162912]|not provided [RCV000885197] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41694637 | 41694637 | Human | 3 | alternate_id |
| 11609488 | CV309117 | single nucleotide variant | NM_000037.4(ANK1):c.3033C>T (p.Ser1011=) | Hereditary spherocytosis type 1 [RCV001000407]|Spherocytosis [RCV001164987]|not provided [RCV000956602] | benign|likely benign|uncertain significance | 8 | 41695259 | 41695259 | Human | 3 | alternate_id |
| 11609512 | CV309136 | single nucleotide variant | NM_000037.4(ANK1):c.1673G>A (p.Arg558Gln) | Hereditary spherocytosis type 1 [RCV000369015]|Spherocytosis [RCV001165201] | uncertain significance | 8 | 41715004 | 41715004 | Human | 3 | alternate_id |
| 11610363 | CV309153 | single nucleotide variant | NM_000037.4(ANK1):c.1415C>T (p.Thr472Ile) | Hereditary spherocytosis type 1 [RCV000380462]|Inborn genetic diseases [RCV003298414]|Spherocytosis [RCV001163228] | uncertain significance | 8 | 41715839 | 41715839 | Human | 4 | alternate_id |
| 11610073 | CV309161 | single nucleotide variant | NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr) | Hereditary spherocytosis type 1 [RCV000376292]|Inborn genetic diseases [RCV004022072]|Spherocytosis [RCV001165326]|not provided [RCV000913010] | benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41717020 | 41717020 | Human | 4 | alternate_id |
| 11609371 | CV309162 | single nucleotide variant | NM_000037.4(ANK1):c.985G>T (p.Ala329Ser) | Hereditary spherocytosis type 1 [RCV000367166]|Inborn genetic diseases [RCV004984854]|Spherocytosis [RCV001163345] | uncertain significance | 8 | 41719783 | 41719783 | Human | 4 | alternate_id |
| 11599367 | CV314339 | single nucleotide variant | NM_000037.4(ANK1):c.5376C>T (p.Thr1792=) | Hereditary spherocytosis type 1 [RCV000265150]|Spherocytosis [RCV001159631]|not provided [RCV000915662] | likely benign|uncertain significance | 8 | 41668285 | 41668285 | Human | 3 | alternate_id |
| 11605692 | CV314341 | single nucleotide variant | NM_000037.4(ANK1):c.5289A>G (p.Thr1763=) | Hereditary spherocytosis type 1 [RCV000322604]|Spherocytosis [RCV001159632] | uncertain significance | 8 | 41668372 | 41668372 | Human | 3 | alternate_id |
| 11604083 | CV314351 | single nucleotide variant | NM_000037.4(ANK1):c.4060C>T (p.His1354Tyr) | Hereditary spherocytosis type 1 [RCV000305999]|Spherocytosis [RCV001164759] | uncertain significance | 8 | 41690271 | 41690271 | Human | 3 | alternate_id |
| 11609930 | CV314359 | single nucleotide variant | NM_000037.4(ANK1):c.4976C>T (p.Ala1659Val) | Hereditary spherocytosis type 1 [RCV000374782]|Spherocytosis [RCV001162604] | uncertain significance | 8 | 41672474 | 41672474 | Human | 3 | alternate_id |
| 11602993 | CV314368 | single nucleotide variant | NM_000037.4(ANK1):c.4607G>A (p.Arg1536His) | Hereditary spherocytosis type 1 [RCV000295632]|Spherocytosis [RCV001164661] | uncertain significance | 8 | 41672843 | 41672843 | Human | 3 | alternate_id |
| 11644805 | CV314371 | single nucleotide variant | NM_000037.4(ANK1):c.4037C>T (p.Ala1346Val) | Hereditary spherocytosis type 1 [RCV000261773]|Spherocytosis [RCV001159841] | uncertain significance | 8 | 41690294 | 41690294 | Human | 3 | alternate_id |
| 11603927 | CV314375 | single nucleotide variant | NM_000037.4(ANK1):c.3443G>A (p.Arg1148Gln) | Hereditary spherocytosis type 1 [RCV000304415]|Spherocytosis [RCV001161364] | uncertain significance | 8 | 41693987 | 41693987 | Human | 3 | alternate_id |
| 11612373 | CV314376 | single nucleotide variant | NM_000037.4(ANK1):c.3288G>A (p.Pro1096=) | Hereditary spherocytosis type 1 [RCV000407860]|Spherocytosis [RCV001162911]|not provided [RCV000923611] | likely benign|uncertain significance | 8 | 41694631 | 41694631 | Human | 3 | alternate_id |
| 11608235 | CV314383 | single nucleotide variant | NM_000037.4(ANK1):c.4541A>C (p.Tyr1514Ser) | Hereditary spherocytosis type 1 [RCV000352733]|Inborn genetic diseases [RCV004984852]|Spherocytosis [RCV001159737] | uncertain significance | 8 | 41672909 | 41672909 | Human | 4 | alternate_id |
| 11664612 | CV314384 | single nucleotide variant | NM_000037.4(ANK1):c.4524C>T (p.Pro1508=) | Hereditary spherocytosis type 1 [RCV000407327]|Spherocytosis [RCV001159738] | uncertain significance | 8 | 41684557 | 41684557 | Human | 3 | alternate_id |
| 11609191 | CV314385 | single nucleotide variant | NM_000037.4(ANK1):c.4497C>T (p.His1499=) | Hereditary spherocytosis type 1 [RCV000365014]|Spherocytosis [RCV001161135] | uncertain significance | 8 | 41684584 | 41684584 | Human | 3 | alternate_id |
| 11608502 | CV314387 | single nucleotide variant | NM_000037.4(ANK1):c.3234C>T (p.Pro1078=) | Hereditary spherocytosis type 1 [RCV000355813]|Spherocytosis [RCV001164983]|not provided [RCV003430950] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41694685 | 41694685 | Human | 3 | alternate_id |
| 11602075 | CV314391 | single nucleotide variant | NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) | Hereditary spherocytosis type 1 [RCV000287527]|Spherocytosis [RCV001162799]|not provided [RCV000956601] | benign|likely benign | 8 | 41692693 | 41692693 | Human | 3 | alternate_id |
| 11611384 | CV314392 | single nucleotide variant | NM_000037.4(ANK1):c.2167C>A (p.His723Asn) | Hereditary spherocytosis type 1 [RCV000393953]|Inborn genetic diseases [RCV002524563]|Spherocytosis [RCV001161593]|not provided [RCV000963224] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41704403 | 41704403 | Human | 4 | alternate_id |
| 11607840 | CV314398 | single nucleotide variant | NM_000037.4(ANK1):c.2096G>A (p.Arg699Gln) | Hereditary spherocytosis type 1 [RCV000348030]|Spherocytosis [RCV001161595]|not provided [RCV005090601] | uncertain significance | 8 | 41706144 | 41706144 | Human | 3 | alternate_id |
| 11605180 | CV314402 | single nucleotide variant | NM_000037.4(ANK1):c.1486C>T (p.Pro496Ser) | Hereditary spherocytosis type 1 [RCV000316613]|Inborn genetic diseases [RCV004639227]|Spherocytosis [RCV001161703] | uncertain significance | 8 | 41715768 | 41715768 | Human | 4 | alternate_id |
| 11604775 | CV314415 | single nucleotide variant | NM_000037.4(ANK1):c.1056G>C (p.Arg352Ser) | Hereditary spherocytosis type 1 [RCV000312238]|Spherocytosis [RCV001161828] | uncertain significance | 8 | 41719712 | 41719712 | Human | 3 | alternate_id |
| 11649774 | CV314423 | single nucleotide variant | NM_000037.4(ANK1):c.649G>A (p.Glu217Lys) | Hereditary spherocytosis type 1 [RCV000289107]|Spherocytosis [RCV001161931] | uncertain significance | 8 | 41724518 | 41724518 | Human | 3 | alternate_id |
| 405724922 | CV3235028 | single nucleotide variant | NM_000037.4(ANK1):c.5633G>A (p.Gly1878Glu) | Hereditary spherocytosis type 1 [RCV004018055] | uncertain significance | 8 | 41661476 | 41661476 | Human | 1 | alternate_id |
| 405866742 | CV3401151 | single nucleotide variant | NM_000037.4(ANK1):c.3280A>G (p.Thr1094Ala) | Hereditary spherocytosis type 1 [RCV004577268] | uncertain significance | 8 | 41694639 | 41694639 | Human | 1 | alternate_id |
| 407460086 | CV3496911 | single nucleotide variant | NM_000037.4(ANK1):c.1624G>A (p.Val542Met) | Hereditary spherocytosis type 1 [RCV004698726]|Inborn genetic diseases [RCV004987187] | benign|uncertain significance | 8 | 41715053 | 41715053 | Human | 2 | alternate_id |
| 408368265 | CV3500556 | single nucleotide variant | NM_000037.4(ANK1):c.3112G>T (p.Glu1038Ter) | Hereditary spherocytosis type 1 [RCV004723684] | likely pathogenic | 8 | 41695180 | 41695180 | Human | 1 | alternate_id |
| 408394638 | CV3521558 | single nucleotide variant | NM_000037.4(ANK1):c.1319C>T (p.Pro440Leu) | Hereditary spherocytosis type 1 [RCV004764356] | pathogenic|uncertain significance | 8 | 41717038 | 41717038 | Human | 1 | alternate_id |
| 408394095 | CV3521718 | indel | NM_000037.4(ANK1):c.290_291delinsCAAC (p.Leu97fs) | Hereditary spherocytosis type 1 [RCV004764517] | likely pathogenic | 8 | 41727944 | 41727945 | Human | | alternate_id |
| 408394248 | CV3521787 | indel | NM_000037.4(ANK1):c.389_390delinsCAAC (p.Leu130fs) | Hereditary spherocytosis type 1 [RCV004764586] | likely pathogenic | 8 | 41727286 | 41727287 | Human | | alternate_id |
| 408393700 | CV3526141 | single nucleotide variant | NM_000037.4(ANK1):c.3553T>A (p.Trp1185Arg) | Hereditary spherocytosis type 1 [RCV004771573] | likely pathogenic | 8 | 41693181 | 41693181 | Human | 1 | alternate_id |
| 596924909 | CV3536813 | duplication | NM_000037.4(ANK1):c.1487_1488dup (p.Asn497fs) | Hereditary spherocytosis type 1 [RCV004785807] | likely pathogenic | 8 | 41715765 | 41715766 | Human | 1 | alternate_id |
| 596924911 | CV3536814 | single nucleotide variant | NM_000037.4(ANK1):c.3068G>A (p.Arg1023His) | Hereditary spherocytosis type 1 [RCV004785808] | uncertain significance | 8 | 41695224 | 41695224 | Human | 1 | alternate_id |
| 596925015 | CV3536868 | single nucleotide variant | NM_000037.4(ANK1):c.5207G>T (p.Ser1736Ile) | Hereditary spherocytosis type 1 [RCV004785862]|Inborn genetic diseases [RCV005363364] | uncertain significance | 8 | 41668454 | 41668454 | Human | 2 | alternate_id |
| 596928068 | CV3541352 | duplication | NM_000037.4(ANK1):c.4095dup (p.Cys1366fs) | Hereditary spherocytosis type 1 [RCV004797223] | likely pathogenic | 8 | 41690235 | 41690236 | Human | 1 | alternate_id |
| 596928356 | CV3541470 | single nucleotide variant | NM_000037.4(ANK1):c.2230C>T (p.Gln744Ter) | Hereditary spherocytosis type 1 [RCV004797342] | pathogenic | 8 | 41704106 | 41704106 | Human | 1 | alternate_id |
| 596926354 | CV3542247 | single nucleotide variant | NM_000037.4(ANK1):c.4253G>A (p.Trp1418Ter) | Hereditary spherocytosis type 1 [RCV004796462] | pathogenic | 8 | 41688161 | 41688161 | Human | 1 | alternate_id |
| 596938417 | CV3550204 | single nucleotide variant | NM_000037.4(ANK1):c.5230C>G (p.Pro1744Ala) | Hereditary spherocytosis type 1 [RCV004813506]|Inborn genetic diseases [RCV004987252] | uncertain significance | 8 | 41668431 | 41668431 | Human | 2 | alternate_id |
| 596938375 | CV3550219 | single nucleotide variant | NM_000037.4(ANK1):c.2637G>T (p.Gln879His) | Hereditary spherocytosis type 1 [RCV004813521] | likely pathogenic | 8 | 41698043 | 41698043 | Human | 1 | alternate_id |
| 12741734 | CV360899 | single nucleotide variant | NM_000037.4(ANK1):c.1948A>G (p.Met650Val) | Anemia [RCV000415020]|Hereditary spherocytosis type 1 [RCV001197413] | uncertain significance | 8 | 41708828 | 41708828 | Human | 3 | alternate_id |
| 12834112 | CV371864 | single nucleotide variant | NM_000037.4(ANK1):c.563C>T (p.Thr188Met) | Hereditary spherocytosis type 1 [RCV003488587]|not provided [RCV000419791] | uncertain significance | 8 | 41725810 | 41725810 | Human | 1 | alternate_id |
| 597652422 | CV3722775 | single nucleotide variant | NM_000037.4(ANK1):c.2267A>G (p.Asn756Ser) | Hereditary spherocytosis type 1 [RCV005041216] | uncertain significance | 8 | 41704069 | 41704069 | Human | 1 | alternate_id |
| 597652429 | CV3722776 | single nucleotide variant | NM_000037.4(ANK1):c.1273C>T (p.Gln425Ter) | Hereditary spherocytosis type 1 [RCV005041217] | pathogenic | 8 | 41717636 | 41717636 | Human | 1 | alternate_id |
| 597833074 | CV3734784 | single nucleotide variant | NM_000037.4(ANK1):c.5162G>A (p.Trp1721Ter) | Hereditary spherocytosis type 1 [RCV005054517] | likely pathogenic | 8 | 41668499 | 41668499 | Human | 1 | alternate_id |
| 598127393 | CV3882636 | deletion | NM_000037.4(ANK1):c.3245_3248del (p.Gly1081_Ser1082insTer) | Hereditary spherocytosis type 1 [RCV005234166] | pathogenic | 8 | 41694671 | 41694674 | Human | 1 | alternate_id |
| 598127401 | CV3882641 | single nucleotide variant | NM_000037.4(ANK1):c.2123C>A (p.Ala708Asp) | Hereditary spherocytosis type 1 [RCV005234171] | uncertain significance | 8 | 41704447 | 41704447 | Human | 1 | alternate_id |
| 598127418 | CV3882651 | deletion | NM_000037.4(ANK1):c.3449del (p.Pro1150fs) | Hereditary spherocytosis type 1 [RCV005234181] | pathogenic | 8 | 41693981 | 41693981 | Human | 1 | alternate_id |
| 598127474 | CV3882686 | deletion | NM_000037.4(ANK1):c.4145del (p.Leu1382fs) | Hereditary spherocytosis type 1 [RCV005234216] | likely pathogenic | 8 | 41688549 | 41688549 | Human | 1 | alternate_id |
| 598127498 | CV3882702 | single nucleotide variant | NM_000037.4(ANK1):c.2044C>G (p.Pro682Ala) | Hereditary spherocytosis type 1 [RCV005234232] | uncertain significance | 8 | 41706196 | 41706196 | Human | 1 | alternate_id |
| 598127581 | CV3882754 | single nucleotide variant | NM_000037.4(ANK1):c.1696G>A (p.Gly566Arg) | Hereditary spherocytosis type 1 [RCV005234285] | uncertain significance | 8 | 41714981 | 41714981 | Human | 1 | alternate_id |
| 598127582 | CV3882755 | single nucleotide variant | NM_000037.4(ANK1):c.1753G>A (p.Val585Ile) | Hereditary spherocytosis type 1 [RCV005234286] | uncertain significance | 8 | 41714203 | 41714203 | Human | 1 | alternate_id |
| 598127721 | CV3882840 | indel | NM_000037.4(ANK1):c.975_976delinsTT (p.Leu325_Gln326delinsPheTer) | Hereditary spherocytosis type 1 [RCV005234371] | pathogenic | 8 | 41719792 | 41719793 | Human | | alternate_id |
| 598127783 | CV3882879 | microsatellite | NM_000037.4(ANK1):c.5001_5002del (p.Glu1667_Asn1668insTer) | Hereditary spherocytosis type 1 [RCV005234411] | pathogenic | 8 | 41672448 | 41672449 | Human | | alternate_id |
| 598127835 | CV3882913 | single nucleotide variant | NM_000037.4(ANK1):c.4607G>C (p.Arg1536Pro) | Hereditary spherocytosis type 1 [RCV005234446] | uncertain significance | 8 | 41672843 | 41672843 | Human | 1 | alternate_id |
| 598128043 | CV3883059 | deletion | NM_000037.4(ANK1):c.3648_3658del (p.Cys1216_Pro1217insTer) | Hereditary spherocytosis type 1 [RCV005234592] | likely pathogenic | 8 | 41692848 | 41692858 | Human | 1 | alternate_id |
| 598128130 | CV3883149 | single nucleotide variant | NM_000037.4(ANK1):c.1942G>A (p.Ala648Thr) | Hereditary spherocytosis type 1 [RCV005234682] | uncertain significance | 8 | 41708834 | 41708834 | Human | 1 | alternate_id |
| 598128131 | CV3883150 | single nucleotide variant | NM_000037.4(ANK1):c.2854C>T (p.Arg952Cys) | Hereditary spherocytosis type 1 [RCV005234683] | uncertain significance | 8 | 41696469 | 41696469 | Human | 1 | alternate_id |
| 598191957 | CV3890734 | deletion | NM_000037.4(ANK1):c.5283del (p.Trp1762fs) | Hereditary spherocytosis type 1 [RCV005251598] | likely pathogenic | 8 | 41668378 | 41668378 | Human | 1 | alternate_id |
| 598218299 | CV3891645 | single nucleotide variant | NM_000037.4(ANK1):c.3026T>C (p.Leu1009Pro) | Hereditary spherocytosis type 1 [RCV005252487] | uncertain significance | 8 | 41695266 | 41695266 | Human | 1 | alternate_id |
| 598223121 | CV3892203 | microsatellite | NM_000037.4(ANK1):c.3493_3496del (p.Gly1165fs) | Hereditary spherocytosis type 1 [RCV005253542] | likely pathogenic | 8 | 41693934 | 41693937 | Human | | alternate_id |
| 616937256 | CV4011399 | single nucleotide variant | NM_000037.4(ANK1):c.1800G>A (p.Trp600Ter) | Hereditary spherocytosis type 1 [RCV005407480] | likely pathogenic | 8 | 41714156 | 41714156 | Human | 1 | alternate_id |
| 616937254 | CV4011400 | single nucleotide variant | NM_000037.4(ANK1):c.5359C>T (p.Gln1787Ter) | Hereditary spherocytosis type 1 [RCV005407481] | likely pathogenic | 8 | 41668302 | 41668302 | Human | 1 | alternate_id |
| 13627230 | CV535247 | single nucleotide variant | NM_000037.4(ANK1):c.5152C>T (p.Gln1718Ter) | Hereditary spherocytosis type 1 [RCV000655896] | pathogenic | 8 | 41668509 | 41668509 | Human | 1 | alternate_id |
| 13608855 | CV535248 | single nucleotide variant | NM_000037.4(ANK1):c.4462C>T (p.Arg1488Ter) | Hereditary spherocytosis type 1 [RCV000655899]|not provided [RCV002275141] | pathogenic | 8 | 41684619 | 41684619 | Human | 1 | alternate_id |
| 14393491 | CV609693 | single nucleotide variant | NM_000037.4(ANK1):c.5051C>T (p.Thr1684Ile) | Hereditary spherocytosis type 1 [RCV000755814]|not provided [RCV003546594] | uncertain significance | 8 | 41672399 | 41672399 | Human | 1 | alternate_id |
| 14393488 | CV609695 | microsatellite | NM_000037.4(ANK1):c.3623_3624del (p.Ser1208fs) | Hereditary spherocytosis type 1 [RCV003133585]|not provided [RCV000755811] | likely pathogenic | 8 | 41693110 | 41693111 | Human | | alternate_id |
| 14393493 | CV609696 | single nucleotide variant | NM_000037.4(ANK1):c.2029C>T (p.Gln677Ter) | Hereditary spherocytosis type 1 [RCV000755817]|not provided [RCV005092171] | pathogenic|likely pathogenic | 8 | 41706211 | 41706211 | Human | 1 | alternate_id |
| 15202173 | CV723086 | single nucleotide variant | NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu) | Hereditary spherocytosis type 1 [RCV001159842]|Spherocytosis [RCV001159843]|not provided [RCV000891399] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41690309 | 41690309 | Human | 3 | alternate_id |
| 15149716 | CV723087 | single nucleotide variant | NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala) | Hereditary spherocytosis type 1 [RCV001164864]|Spherocytosis [RCV001164865]|not provided [RCV000879225] | benign|likely benign|uncertain significance | 8 | 41692838 | 41692838 | Human | 3 | alternate_id |
| 15169443 | CV723091 | single nucleotide variant | NM_000037.4(ANK1):c.1483A>C (p.Asn495His) | Hereditary spherocytosis type 1 [RCV001804043]|not provided [RCV000883267] | likely benign|conflicting interpretations of pathogenicity | 8 | 41715771 | 41715771 | Human | 1 | alternate_id |
| 15106036 | CV723093 | single nucleotide variant | NM_000037.4(ANK1):c.1387G>A (p.Val463Ile) | Hereditary spherocytosis type 1 [RCV001163232]|not provided [RCV000893197] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41716970 | 41716970 | Human | 1 | alternate_id |
| 15151363 | CV736648 | single nucleotide variant | NM_000037.4(ANK1):c.4099G>A (p.Ala1367Thr) | Hereditary spherocytosis type 1 [RCV003741233]|Inborn genetic diseases [RCV004629377]|not provided [RCV000901349] | likely benign | 8 | 41690232 | 41690232 | Human | 2 | alternate_id |
| 15156899 | CV751139 | single nucleotide variant | NM_000037.4(ANK1):c.4448T>G (p.Leu1483Arg) | Hereditary spherocytosis type 1 [RCV001002429]|not provided [RCV000924756]|not specified [RCV005231971] | likely benign|uncertain significance | 8 | 41684633 | 41684633 | Human | 1 | alternate_id |
| 15146960 | CV751141 | single nucleotide variant | NM_000037.4(ANK1):c.4023G>A (p.Ser1341=) | Hereditary spherocytosis type 1 [RCV003741235]|not provided [RCV000922809] | likely benign | 8 | 41690308 | 41690308 | Human | 1 | alternate_id |
| 15167477 | CV751145 | single nucleotide variant | NM_000037.4(ANK1):c.3468C>T (p.Thr1156=) | Hereditary spherocytosis type 1 [RCV005231972]|not provided [RCV000927096] | likely benign | 8 | 41693962 | 41693962 | Human | 1 | alternate_id |
| 15148101 | CV751146 | single nucleotide variant | NM_000037.4(ANK1):c.3342G>A (p.Pro1114=) | Hereditary spherocytosis type 1 [RCV003117645]|not provided [RCV000923034] | likely benign | 8 | 41694088 | 41694088 | Human | 1 | alternate_id |
| 15137458 | CV766806 | single nucleotide variant | NM_000037.4(ANK1):c.3570A>C (p.Gly1190=) | Hereditary spherocytosis type 1 [RCV001159954]|Spherocytosis [RCV001159955]|not provided [RCV000943243] | benign|likely benign|uncertain significance | 8 | 41693164 | 41693164 | Human | 3 | alternate_id |
| 21406304 | CV799540 | single nucleotide variant | NM_000037.4(ANK1):c.4306C>T (p.Arg1436Ter) | Hereditary spherocytosis type 1 [RCV001002452]|not provided [RCV005093024] | pathogenic|conflicting interpretations of pathogenicity | 8 | 41686236 | 41686236 | Human | 1 | alternate_id |
| 21406315 | CV799541 | single nucleotide variant | NM_000037.4(ANK1):c.4153C>T (p.Arg1385Ter) | Hereditary spherocytosis type 1 [RCV001002482] | pathogenic | 8 | 41688541 | 41688541 | Human | 1 | alternate_id |
| 21405721 | CV799542 | single nucleotide variant | NM_000037.4(ANK1):c.3770G>A (p.Arg1257His) | Hereditary spherocytosis type 1 [RCV001001053] | uncertain significance | 8 | 41692736 | 41692736 | Human | 1 | alternate_id |
| 21406278 | CV799543 | single nucleotide variant | NM_000037.4(ANK1):c.3555G>A (p.Trp1185Ter) | Hereditary spherocytosis type 1 [RCV001002400] | pathogenic | 8 | 41693179 | 41693179 | Human | 1 | alternate_id |
| 21405407 | CV799544 | single nucleotide variant | NM_000037.4(ANK1):c.3229G>C (p.Gly1077Arg) | Hereditary spherocytosis type 1 [RCV001000374]|Inborn genetic diseases [RCV004030258]|not provided [RCV004792602] | uncertain significance | 8 | 41694690 | 41694690 | Human | 2 | alternate_id |
| 21406193 | CV799546 | single nucleotide variant | NM_000037.4(ANK1):c.1277G>A (p.Arg426Gln) | Hereditary spherocytosis type 1 [RCV001002212]|Inborn genetic diseases [RCV004030269]|not provided [RCV005093022] | uncertain significance | 8 | 41717632 | 41717632 | Human | 2 | alternate_id |
| 25314917 | CV818256 | deletion | NM_000037.4(ANK1):c.4051del (p.Asp1351fs) | Hereditary spherocytosis type 1 [RCV001029896] | likely pathogenic | 8 | 41690280 | 41690280 | Human | 1 | alternate_id |
| 8633010 | CV88224 | single nucleotide variant | NM_000037.4(ANK1):c.3179C>T (p.Pro1060Leu) | Hereditary spherocytosis type 1 [RCV001802337]|not provided [RCV002541361] | uncertain significance|not provided | 8 | 41694740 | 41694740 | Human | 1 | alternate_id |
| 28909960 | CV899570 | single nucleotide variant | NM_000037.4(ANK1):c.5208T>A (p.Ser1736Arg) | Hereditary spherocytosis type 1 [RCV001161010]|Spherocytosis [RCV001161011] | uncertain significance | 8 | 41668453 | 41668453 | Human | 3 | alternate_id |
| 28909962 | CV899571 | single nucleotide variant | NM_000037.4(ANK1):c.5177C>T (p.Thr1726Met) | Hereditary spherocytosis type 1 [RCV001161012]|Spherocytosis [RCV001161013] | uncertain significance | 8 | 41668484 | 41668484 | Human | 3 | alternate_id |
| 28868613 | CV899572 | single nucleotide variant | NM_000037.4(ANK1):c.5119G>A (p.Gly1707Ser) | Hereditary spherocytosis type 1 [RCV001162599]|Inborn genetic diseases [RCV002557374]|Spherocytosis [RCV001161014] | uncertain significance | 8 | 41668542 | 41668542 | Human | 4 | alternate_id |
| 28868774 | CV899575 | single nucleotide variant | NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu) | Hereditary spherocytosis type 1 [RCV001162701]|Inborn genetic diseases [RCV004986856]|Spherocytosis [RCV001164753]|not provided [RCV003769785] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 41688558 | 41688558 | Human | 4 | alternate_id |
| 28868929 | CV899576 | single nucleotide variant | NM_000037.4(ANK1):c.3971C>T (p.Ala1324Val) | Hereditary spherocytosis type 1 [RCV001162792]|Spherocytosis [RCV001161251] | uncertain significance | 8 | 41690487 | 41690487 | Human | 3 | alternate_id |
| 28868930 | CV899577 | single nucleotide variant | NM_000037.4(ANK1):c.3955C>T (p.Arg1319Trp) | Hereditary spherocytosis type 1 [RCV001162794]|Inborn genetic diseases [RCV002559556]|Spherocytosis [RCV001162793]|not provided [RCV002558554] | uncertain significance | 8 | 41690503 | 41690503 | Human | 4 | alternate_id |
| 28868933 | CV899578 | single nucleotide variant | NM_000037.4(ANK1):c.3941A>C (p.His1314Pro) | Hereditary spherocytosis type 1 [RCV001162795]|Inborn genetic diseases [RCV003363125]|Spherocytosis [RCV001162796] | uncertain significance | 8 | 41690517 | 41690517 | Human | 4 | alternate_id |
| 28873390 | CV899580 | single nucleotide variant | NM_000037.4(ANK1):c.3709C>A (p.Pro1237Thr) | Hereditary spherocytosis type 1 [RCV001164862]|Spherocytosis [RCV001164863] | uncertain significance | 8 | 41692797 | 41692797 | Human | 3 | alternate_id |
| 28873397 | CV899581 | single nucleotide variant | NM_000037.4(ANK1):c.3653G>A (p.Arg1218Gln) | Hereditary spherocytosis type 1 [RCV001164867]|Spherocytosis [RCV001164866] | uncertain significance | 8 | 41692853 | 41692853 | Human | 3 | alternate_id |
| 28910363 | CV899582 | single nucleotide variant | NM_000037.4(ANK1):c.3469G>A (p.Asp1157Asn) | Hereditary spherocytosis type 1 [RCV001161362]|Spherocytosis [RCV001161363] | uncertain significance | 8 | 41693961 | 41693961 | Human | 3 | alternate_id |
| 28908357 | CV899584 | single nucleotide variant | NM_000037.4(ANK1):c.3002G>A (p.Arg1001His) | Hereditary spherocytosis type 1 [RCV001160073]|Spherocytosis [RCV001160072]|not provided [RCV002558514] | uncertain significance | 8 | 41695290 | 41695290 | Human | 3 | alternate_id |
| 28908362 | CV899585 | single nucleotide variant | NM_000037.4(ANK1):c.2981C>T (p.Pro994Leu) | Hereditary spherocytosis type 1 [RCV001160077]|Spherocytosis [RCV001160076] | uncertain significance | 8 | 41695311 | 41695311 | Human | 3 | alternate_id |
| 28869266 | CV899588 | single nucleotide variant | NM_000037.4(ANK1):c.2713G>A (p.Val905Met) | Hereditary spherocytosis type 1 [RCV001163012]|Spherocytosis [RCV001163013]|not provided [RCV005093678] | uncertain significance | 8 | 41696698 | 41696698 | Human | 3 | alternate_id |
| 28869506 | CV899589 | single nucleotide variant | NM_000037.4(ANK1):c.1859G>A (p.Ser620Asn) | Hereditary spherocytosis type 1 [RCV001163123]|Inborn genetic diseases [RCV004986858]|not provided [RCV002261295] | conflicting interpretations of pathogenicity|uncertain significance | 8 | 41708917 | 41708917 | Human | 2 | alternate_id |
| 28905542 | CV899591 | single nucleotide variant | NM_000037.4(ANK1):c.1535G>A (p.Arg512His) | Hereditary spherocytosis type 1 [RCV001158493]|Spherocytosis [RCV001158492] | uncertain significance | 8 | 41715719 | 41715719 | Human | 3 | alternate_id |
| 28910794 | CV899593 | single nucleotide variant | NM_000037.4(ANK1):c.1441G>A (p.Gly481Ser) | Hereditary spherocytosis type 1 [RCV001161707]|Spherocytosis [RCV001161706] | uncertain significance | 8 | 41715813 | 41715813 | Human | 3 | alternate_id |
| 28867344 | CV899597 | single nucleotide variant | NM_000037.4(ANK1):c.1117A>T (p.Thr373Ser) | Hereditary spherocytosis type 1 [RCV001161826]|Spherocytosis [RCV001161827] | uncertain significance | 8 | 41718195 | 41718195 | Human | 3 | alternate_id |
| 38462102 | CV919153 | single nucleotide variant | NM_000037.4(ANK1):c.4855G>T (p.Glu1619Ter) | Hereditary spherocytosis type 1 [RCV001198178] | likely pathogenic | 8 | 41672595 | 41672595 | Human | 1 | alternate_id |
| 150339797 | CV980862 | deletion | NM_000037.4(ANK1):c.4541del (p.Tyr1514fs) | Hereditary spherocytosis type 1 [RCV001534605] | pathogenic | 8 | 41672909 | 41672909 | Human | 1 | alternate_id |
| 150339799 | CV980863 | single nucleotide variant | NM_000037.4(ANK1):c.4057C>T (p.Gln1353Ter) | Hereditary spherocytosis type 1 [RCV001534607] | pathogenic | 8 | 41690274 | 41690274 | Human | 1 | alternate_id |
| 150339798 | CV980864 | duplication | NM_000037.4(ANK1):c.1427_1430dup (p.Ala478fs) | Hereditary spherocytosis type 1 [RCV001534606] | pathogenic | 8 | 41715823 | 41715824 | Human | 1 | alternate_id |
| 41405017 | CV981627 | single nucleotide variant | NM_000037.4(ANK1):c.3717G>A (p.Met1239Ile) | Hereditary spherocytosis type 1 [RCV001285077] | uncertain significance | 8 | 41692789 | 41692789 | Human | 1 | alternate_id |
| 41405375 | CV981628 | single nucleotide variant | NM_000037.4(ANK1):c.3601G>A (p.Ala1201Thr) | Hereditary spherocytosis type 1 [RCV001286123] | uncertain significance | 8 | 41693133 | 41693133 | Human | 1 | alternate_id |
| 41407367 | CV981630 | single nucleotide variant | NM_000037.4(ANK1):c.3202C>T (p.Arg1068Trp) | Hereditary spherocytosis type 1 [RCV001289694] | uncertain significance | 8 | 41694717 | 41694717 | Human | 1 | alternate_id |
| 41405725 | CV981631 | deletion | NM_000037.4(ANK1):c.3092_3095del (p.Gln1031fs) | Hereditary spherocytosis type 1 [RCV001287319] | pathogenic | 8 | 41695197 | 41695200 | Human | 1 | alternate_id |
| 41405600 | CV981632 | single nucleotide variant | NM_000037.4(ANK1):c.2972T>G (p.Val991Gly) | Hereditary spherocytosis type 1 [RCV001286927] | uncertain significance | 8 | 41695320 | 41695320 | Human | 1 | alternate_id |
| 41405066 | CV981633 | single nucleotide variant | NM_000037.4(ANK1):c.2899G>A (p.Glu967Lys) | Hereditary spherocytosis type 1 [RCV001285219] | uncertain significance | 8 | 41696424 | 41696424 | Human | 1 | alternate_id |
| 41405397 | CV981635 | single nucleotide variant | NM_000037.4(ANK1):c.2508T>A (p.Asp836Glu) | Hereditary spherocytosis type 1 [RCV001286202] | uncertain significance | 8 | 41699502 | 41699502 | Human | 1 | alternate_id |
| 41407369 | CV981638 | single nucleotide variant | NM_000037.4(ANK1):c.2258T>C (p.Leu753Pro) | Hereditary spherocytosis type 1 [RCV001289697] | uncertain significance | 8 | 41704078 | 41704078 | Human | 1 | alternate_id |
| 41405607 | CV981639 | single nucleotide variant | NM_000037.4(ANK1):c.2164C>T (p.Gln722Ter) | Hereditary spherocytosis type 1 [RCV001286935]|not provided [RCV004793377] | pathogenic|likely pathogenic | 8 | 41704406 | 41704406 | Human | 1 | alternate_id |
| 41405354 | CV981640 | single nucleotide variant | NM_000037.4(ANK1):c.1891G>T (p.Glu631Ter) | Hereditary spherocytosis type 1 [RCV001286066]|not provided [RCV005428163] | pathogenic | 8 | 41708885 | 41708885 | Human | 1 | alternate_id |
| 41407358 | CV981642 | single nucleotide variant | NM_000037.4(ANK1):c.1771C>G (p.Arg591Gly) | Hereditary spherocytosis type 1 [RCV001289661] | uncertain significance | 8 | 41714185 | 41714185 | Human | 1 | alternate_id |