| 597952406 | CV3843752 | single nucleotide variant | NM_001375834.1(WIPF1):c.51+7G>T | Wiskott-Aldrich syndrome 2 [RCV005190614] | likely benign | 2 | 174585516 | 174585516 | Human | 1 | name , alternate_id |
| 152163150 | CV1648148 | single nucleotide variant | NM_001375834.1(WIPF1):c.181+9A>G | Wiskott-Aldrich syndrome 2 [RCV002123560] | likely benign | 2 | 174581301 | 174581301 | Human | 1 | name , alternate_id |
| 156305457 | CV2105227 | single nucleotide variant | NM_001375834.1(WIPF1):c.51+14C>A | Wiskott-Aldrich syndrome 2 [RCV002922797] | likely benign | 2 | 174585509 | 174585509 | Human | 1 | name , alternate_id |
| 402493807 | CV2997342 | single nucleotide variant | NM_001375834.1(WIPF1):c.182-8T>C | Wiskott-Aldrich syndrome 2 [RCV003644130] | likely benign | 2 | 174575388 | 174575388 | Human | 1 | name , alternate_id |
| 405202662 | CV3033352 | single nucleotide variant | NM_001375834.1(WIPF1):c.181+7A>T | Wiskott-Aldrich syndrome 2 [RCV003642403] | likely benign | 2 | 174581303 | 174581303 | Human | 1 | name , alternate_id |
| 405102793 | CV3119530 | single nucleotide variant | NM_001375834.1(WIPF1):c.52-15A>G | Wiskott-Aldrich syndrome 2 [RCV003811792] | likely benign | 2 | 174581454 | 174581454 | Human | 1 | name , alternate_id |
| 127275646 | CV1090079 | single nucleotide variant | NM_001375834.1(WIPF1):c.1130-4C>T | Wiskott-Aldrich syndrome 2 [RCV001432466] | likely benign | 2 | 174568077 | 174568077 | Human | 1 | name , alternate_id |
| 152041166 | CV1553471 | single nucleotide variant | NM_001375834.1(WIPF1):c.1129+9A>G | Wiskott-Aldrich syndrome 2 [RCV002087981] | likely benign | 2 | 174571667 | 174571667 | Human | 1 | name , alternate_id |
| 152128928 | CV1554499 | single nucleotide variant | NM_001375834.1(WIPF1):c.1129+7C>G | Wiskott-Aldrich syndrome 2 [RCV002176531] | likely benign | 2 | 174571669 | 174571669 | Human | 1 | name , alternate_id |
| 152063722 | CV1606483 | single nucleotide variant | NM_001375834.1(WIPF1):c.358+13T>C | Wiskott-Aldrich syndrome 2 [RCV002209023] | likely benign | 2 | 174575191 | 174575191 | Human | 1 | name , alternate_id |
| 152048684 | CV1615724 | single nucleotide variant | NM_001375834.1(WIPF1):c.182-16G>A | Wiskott-Aldrich syndrome 2 [RCV002166583]|not provided [RCV004711883] | likely benign | 2 | 174575396 | 174575396 | Human | 1 | name , alternate_id |
| 155974503 | CV1889810 | single nucleotide variant | NM_001375834.1(WIPF1):c.358+19T>C | Wiskott-Aldrich syndrome 2 [RCV003075344] | likely benign | 2 | 174575185 | 174575185 | Human | 1 | name , alternate_id |
| 156415346 | CV1990978 | single nucleotide variant | NM_001375834.1(WIPF1):c.1456+9T>C | Wiskott-Aldrich syndrome 2 [RCV002609625] | likely benign | 2 | 174567061 | 174567061 | Human | 1 | name , alternate_id |
| 156090818 | CV2056995 | single nucleotide variant | NM_001375834.1(WIPF1):c.182-14C>T | Wiskott-Aldrich syndrome 2 [RCV002824175] | likely benign | 2 | 174575394 | 174575394 | Human | 1 | name , alternate_id |
| 156239303 | CV2115813 | duplication | NM_001375834.1(WIPF1):c.181+13dup | Wiskott-Aldrich syndrome 2 [RCV002919237] | benign | 2 | 174581296 | 174581297 | Human | 1 | name , alternate_id |
| 156260445 | CV2138593 | duplication | NM_001375834.1(WIPF1):c.1130-8dup | Wiskott-Aldrich syndrome 2 [RCV002988445] | benign | 2 | 174568080 | 174568081 | Human | 1 | name , alternate_id |
| 405028498 | CV2891670 | single nucleotide variant | NM_001375834.1(WIPF1):c.1343-5C>T | Wiskott-Aldrich syndrome 2 [RCV003529192] | likely benign | 2 | 174567188 | 174567188 | Human | 1 | name , alternate_id |
| 405034656 | CV2915142 | single nucleotide variant | NM_001375834.1(WIPF1):c.359-19T>C | Wiskott-Aldrich syndrome 2 [RCV003529728] | likely benign | 2 | 174572465 | 174572465 | Human | 1 | name , alternate_id |
| 405133337 | CV3163885 | single nucleotide variant | NM_001375834.1(WIPF1):c.182-20G>A | Wiskott-Aldrich syndrome 2 [RCV003854873] | likely benign | 2 | 174575400 | 174575400 | Human | 1 | name , alternate_id |
| 597905238 | CV3738322 | single nucleotide variant | NM_001375834.1(WIPF1):c.181+18A>G | Wiskott-Aldrich syndrome 2 [RCV005072744] | likely benign | 2 | 174581292 | 174581292 | Human | 1 | name , alternate_id |
| 597926079 | CV3748859 | single nucleotide variant | NM_001375834.1(WIPF1):c.1129+8A>G | Wiskott-Aldrich syndrome 2 [RCV005075315] | likely benign | 2 | 174571668 | 174571668 | Human | 1 | name , alternate_id |
| 15183078 | CV774611 | single nucleotide variant | NM_001375834.1(WIPF1):c.182-10T>C | Wiskott-Aldrich syndrome 2 [RCV001429681] | likely benign | 2 | 174575390 | 174575390 | Human | 1 | name , alternate_id |
| 127259551 | CV1068362 | single nucleotide variant | NM_001375834.1(WIPF1):c.1129+10G>A | WIPF1-related disorder [RCV003938725]|Wiskott-Aldrich syndrome 2 [RCV001419838] | likely benign | 2 | 174571666 | 174571666 | Human | 1 | name , trait , alternate_id |
| 127298386 | CV1153885 | single nucleotide variant | NM_001375834.1(WIPF1):c.1342+20C>T | Wiskott-Aldrich syndrome 2 [RCV001513241]|not provided [RCV004710270] | benign | 2 | 174567841 | 174567841 | Human | 1 | name , alternate_id |
| 150484678 | CV1222545 | duplication | NM_001375834.1(WIPF1):c.358+238dup | not provided [RCV001617548]|not specified [RCV003487540] | benign | 2 | 174574953 | 174574954 | Human | | name |
| 150491022 | CV1251123 | single nucleotide variant | NM_001375834.1(WIPF1):c.1456+91G>C | not provided [RCV001674791]|not specified [RCV003487657] | benign | 2 | 174566979 | 174566979 | Human | | name |
| 150454517 | CV1266021 | single nucleotide variant | NM_001375834.1(WIPF1):c.182-208C>T | not provided [RCV001692598] | benign | 2 | 174575588 | 174575588 | Human | | name |
| 152156253 | CV1573025 | single nucleotide variant | NM_001375834.1(WIPF1):c.1457-13T>C | Wiskott-Aldrich syndrome 2 [RCV002180178] | likely benign | 2 | 174562615 | 174562615 | Human | 1 | name , alternate_id |
| 152127962 | CV1581262 | single nucleotide variant | NM_001375834.1(WIPF1):c.1130-18T>C | Wiskott-Aldrich syndrome 2 [RCV002099089] | likely benign | 2 | 174568091 | 174568091 | Human | 1 | name , alternate_id |
| 156331883 | CV1884504 | single nucleotide variant | NM_001375834.1(WIPF1):c.1129+13G>A | Wiskott-Aldrich syndrome 2 [RCV003089847] | likely benign | 2 | 174571663 | 174571663 | Human | 1 | name , alternate_id |
| 156151923 | CV1929395 | single nucleotide variant | NM_001375834.1(WIPF1):c.1343-14G>C | Wiskott-Aldrich syndrome 2 [RCV002624035] | likely benign | 2 | 174567197 | 174567197 | Human | 1 | name , alternate_id |
| 156396971 | CV1959116 | single nucleotide variant | NM_001375834.1(WIPF1):c.1129+16G>C | Wiskott-Aldrich syndrome 2 [RCV002584457] | likely benign | 2 | 174571660 | 174571660 | Human | 1 | name , alternate_id |
| 401961467 | CV2843785 | single nucleotide variant | NM_001375834.1(WIPF1):c.1130-20A>C | not provided [RCV003481623] | uncertain significance | 2 | 174568093 | 174568093 | Human | | name |
| 404988316 | CV2849480 | single nucleotide variant | NM_001375834.1(WIPF1):c.358+420A>G | not specified [RCV003490337] | benign | 2 | 174574784 | 174574784 | Human | | name |
| 404988431 | CV2849580 | single nucleotide variant | NM_001375834.1(WIPF1):c.358+396C>T | not specified [RCV003490437] | benign | 2 | 174574808 | 174574808 | Human | | name |
| 405021487 | CV2864299 | single nucleotide variant | NM_001375834.1(WIPF1):c.1343-14G>A | Wiskott-Aldrich syndrome 2 [RCV003528536] | likely benign | 2 | 174567197 | 174567197 | Human | 1 | name , alternate_id |
| 405027047 | CV2876375 | single nucleotide variant | NM_001375834.1(WIPF1):c.1130-10T>C | Wiskott-Aldrich syndrome 2 [RCV003529073] | likely benign | 2 | 174568083 | 174568083 | Human | 1 | name , alternate_id |
| 402480287 | CV3067361 | single nucleotide variant | NM_001375834.1(WIPF1):c.1343-20C>T | Wiskott-Aldrich syndrome 2 [RCV003642645] | likely benign | 2 | 174567203 | 174567203 | Human | 1 | name , alternate_id |
| 405210759 | CV3117710 | single nucleotide variant | NM_001375834.1(WIPF1):c.1457-14G>A | Wiskott-Aldrich syndrome 2 [RCV003823309] | likely benign | 2 | 174562616 | 174562616 | Human | 1 | name , alternate_id |
| 597918084 | CV3811265 | single nucleotide variant | NM_001375834.1(WIPF1):c.1342+18C>A | Wiskott-Aldrich syndrome 2 [RCV005155300] | likely benign | 2 | 174567843 | 174567843 | Human | 1 | name , alternate_id |
| 150436920 | CV1220634 | single nucleotide variant | NM_001375834.1(WIPF1):c.1343-145C>T | not provided [RCV001609618] | benign | 2 | 174567328 | 174567328 | Human | | name |
| 150467258 | CV1277540 | single nucleotide variant | NM_001375834.1(WIPF1):c.1343-187C>T | not provided [RCV001710835] | benign | 2 | 174567370 | 174567370 | Human | | name |
| 151843187 | CV1408725 | deletion | NM_001375834.1(WIPF1):c.51+4_51+7del | Wiskott-Aldrich syndrome 2 [RCV002015588] | uncertain significance | 2 | 174585516 | 174585519 | Human | 1 | name , alternate_id |
| 156263563 | CV1869302 | deletion | NM_001375834.1(WIPF1):c.51+19_51+22del | Wiskott-Aldrich syndrome 2 [RCV003060448] | likely benign | 2 | 174585501 | 174585504 | Human | 1 | name , alternate_id |
| 407524581 | CV3487872 | single nucleotide variant | NM_001375834.1(WIPF1):c.24A>C (p.Ala8=) | Inborn genetic diseases [RCV004678477] | likely benign | 2 | 174585550 | 174585550 | Human | 1 | name |
| 597971162 | CV3802466 | single nucleotide variant | NM_001375834.1(WIPF1):c.27C>G (p.Pro9=) | Wiskott-Aldrich syndrome 2 [RCV005142064] | likely benign | 2 | 174585547 | 174585547 | Human | 1 | name , alternate_id |
| 127246324 | CV1090082 | single nucleotide variant | NM_001375834.1(WIPF1):c.30G>C (p.Pro10=) | Wiskott-Aldrich syndrome 2 [RCV001435388] | likely benign | 2 | 174585544 | 174585544 | Human | 1 | name , alternate_id |
| 127335523 | CV1111579 | single nucleotide variant | NM_001375834.1(WIPF1):c.33G>A (p.Pro11=) | Wiskott-Aldrich syndrome 2 [RCV001474345] | likely benign | 2 | 174585541 | 174585541 | Human | 1 | name , alternate_id |
| 127327955 | CV1132481 | single nucleotide variant | NM_001375834.1(WIPF1):c.49C>T (p.Leu17=) | Wiskott-Aldrich syndrome 2 [RCV001506862] | likely benign | 2 | 174585525 | 174585525 | Human | 1 | name , alternate_id |
| 152060578 | CV1559218 | single nucleotide variant | NM_001375834.1(WIPF1):c.39G>A (p.Pro13=) | Wiskott-Aldrich syndrome 2 [RCV002167953] | likely benign | 2 | 174585535 | 174585535 | Human | 1 | name , alternate_id |
| 152102092 | CV1667195 | single nucleotide variant | NM_001375834.1(WIPF1):c.36C>T (p.Pro12=) | not provided [RCV002214181] | likely benign | 2 | 174585538 | 174585538 | Human | | name |
| 11636821 | CV275440 | single nucleotide variant | NM_001375834.1(WIPF1):c.51G>A (p.Leu17=) | Wiskott-Aldrich syndrome 2 [RCV001361440]|not provided [RCV000275306] | uncertain significance | 2 | 174585523 | 174585523 | Human | 1 | name , alternate_id |
| 405253909 | CV3174884 | single nucleotide variant | NM_001375834.1(WIPF1):c.66G>A (p.Lys22=) | Wiskott-Aldrich syndrome 2 [RCV003871335] | likely benign | 2 | 174581425 | 174581425 | Human | 1 | name , alternate_id |
| 405852953 | CV3393382 | single nucleotide variant | NM_001375834.1(WIPF1):c.39G>C (p.Pro13=) | not provided [RCV004546112] | likely benign | 2 | 174585535 | 174585535 | Human | | name |
| 597922358 | CV3808162 | single nucleotide variant | NM_001375834.1(WIPF1):c.75G>A (p.Leu25=) | Wiskott-Aldrich syndrome 2 [RCV005155870] | likely benign | 2 | 174581416 | 174581416 | Human | 1 | name , alternate_id |
| 13473745 | CV449163 | single nucleotide variant | NM_001375834.1(WIPF1):c.78T>C (p.Asn26=) | WIPF1-related disorder [RCV003915601]|Wiskott-Aldrich syndrome 2 [RCV000547938] | benign|likely benign | 2 | 174581413 | 174581413 | Human | 1 | name , trait , alternate_id |
| 13496250 | CV449286 | single nucleotide variant | NM_001375834.1(WIPF1):c.42G>A (p.Thr14=) | WIPF1-related disorder [RCV003952838]|Wiskott-Aldrich syndrome 2 [RCV000537721]|not provided [RCV004708944] | benign | 2 | 174585532 | 174585532 | Human | 1 | name , trait , alternate_id |
| 15127190 | CV746958 | single nucleotide variant | NM_001375834.1(WIPF1):c.30G>A (p.Pro10=) | Wiskott-Aldrich syndrome 2 [RCV000919454] | likely benign | 2 | 174585544 | 174585544 | Human | 1 | name , alternate_id |
| 126920579 | CV1040828 | single nucleotide variant | NM_001375834.1(WIPF1):c.26C>T (p.Pro9Leu) | Wiskott-Aldrich syndrome 2 [RCV001362960] | uncertain significance | 2 | 174585548 | 174585548 | Human | 1 | name , alternate_id |
| 127293965 | CV1111578 | single nucleotide variant | NM_001375834.1(WIPF1):c.231C>G (p.Gly77=) | Wiskott-Aldrich syndrome 2 [RCV001476696] | likely benign | 2 | 174575331 | 174575331 | Human | 1 | name , alternate_id |
| 127306618 | CV1132478 | single nucleotide variant | NM_001375834.1(WIPF1):c.159C>T (p.Asp53=) | Wiskott-Aldrich syndrome 2 [RCV001480139] | likely benign | 2 | 174581332 | 174581332 | Human | 1 | name , alternate_id |
| 127335331 | CV1132479 | single nucleotide variant | NM_001375834.1(WIPF1):c.150C>T (p.Val50=) | Wiskott-Aldrich syndrome 2 [RCV001491461] | likely benign | 2 | 174581341 | 174581341 | Human | 1 | name , alternate_id |
| 127329711 | CV1132480 | single nucleotide variant | NM_001375834.1(WIPF1):c.147G>A (p.Thr49=) | Wiskott-Aldrich syndrome 2 [RCV001487622] | likely benign | 2 | 174581344 | 174581344 | Human | 1 | name , alternate_id |
| 151838562 | CV1407469 | single nucleotide variant | NM_001375834.1(WIPF1):c.13C>T (p.Pro5Ser) | Wiskott-Aldrich syndrome 2 [RCV002051486] | uncertain significance | 2 | 174585561 | 174585561 | Human | 1 | name , alternate_id |
| 151761406 | CV1459675 | single nucleotide variant | NM_001375834.1(WIPF1):c.10C>G (p.Pro4Ala) | Wiskott-Aldrich syndrome 2 [RCV002044322] | uncertain significance | 2 | 174585564 | 174585564 | Human | 1 | name , alternate_id |
| 156444762 | CV1948486 | single nucleotide variant | NM_001375834.1(WIPF1):c.285C>T (p.Gly95=) | Wiskott-Aldrich syndrome 2 [RCV003115690] | likely benign | 2 | 174575277 | 174575277 | Human | 1 | name , alternate_id |
| 329371388 | CV2458104 | single nucleotide variant | NM_001375834.1(WIPF1):c.16C>T (p.Pro6Ser) | Inborn genetic diseases [RCV003209732] | uncertain significance | 2 | 174585558 | 174585558 | Human | 1 | name |
| 402489926 | CV2976540 | single nucleotide variant | NM_001375834.1(WIPF1):c.279A>G (p.Gly93=) | Wiskott-Aldrich syndrome 2 [RCV003643723] | likely benign | 2 | 174575283 | 174575283 | Human | 1 | name , alternate_id |
| 402479687 | CV3051871 | single nucleotide variant | NM_001375834.1(WIPF1):c.234C>T (p.Gly78=) | Wiskott-Aldrich syndrome 2 [RCV003642568] | likely benign | 2 | 174575328 | 174575328 | Human | 1 | name , alternate_id |
| 405187164 | CV3120557 | single nucleotide variant | NM_001375834.1(WIPF1):c.279A>C (p.Gly93=) | Wiskott-Aldrich syndrome 2 [RCV003820639] | likely benign | 2 | 174575283 | 174575283 | Human | 1 | name , alternate_id |
| 597874500 | CV3766153 | single nucleotide variant | NM_001375834.1(WIPF1):c.16C>G (p.Pro6Ala) | Wiskott-Aldrich syndrome 2 [RCV005108285] | uncertain significance | 2 | 174585558 | 174585558 | Human | 1 | name , alternate_id |
| 597888056 | CV3839163 | single nucleotide variant | NM_001375834.1(WIPF1):c.177G>A (p.Leu59=) | Wiskott-Aldrich syndrome 2 [RCV005179249] | likely benign | 2 | 174581314 | 174581314 | Human | 1 | name , alternate_id |
| 15137502 | CV732954 | single nucleotide variant | NM_001375834.1(WIPF1):c.243C>T (p.Gly81=) | WIPF1-related disorder [RCV003922928]|Wiskott-Aldrich syndrome 2 [RCV000898814] | likely benign | 2 | 174575319 | 174575319 | Human | 1 | name , trait , alternate_id |
| 15188257 | CV732956 | single nucleotide variant | NM_001375834.1(WIPF1):c.207C>T (p.Gly69=) | Wiskott-Aldrich syndrome 2 [RCV002065787]|not provided [RCV003432901] | likely benign | 2 | 174575355 | 174575355 | Human | 1 | name , alternate_id |
| 15122895 | CV780968 | single nucleotide variant | NM_001375834.1(WIPF1):c.258C>T (p.Gly86=) | Wiskott-Aldrich syndrome 2 [RCV001491071]|not provided [RCV003883520] | likely benign | 2 | 174575304 | 174575304 | Human | 1 | name , alternate_id |
| 26919278 | CV825244 | single nucleotide variant | NM_001375834.1(WIPF1):c.231C>T (p.Gly77=) | Wiskott-Aldrich syndrome 2 [RCV001058795]|not provided [RCV001702876] | likely benign|uncertain significance | 2 | 174575331 | 174575331 | Human | 1 | name , alternate_id |
| 38458291 | CV952794 | single nucleotide variant | NM_001375834.1(WIPF1):c.16C>A (p.Pro6Thr) | Wiskott-Aldrich syndrome 2 [RCV001246290] | uncertain significance | 2 | 174585558 | 174585558 | Human | 1 | name , alternate_id |
| 126747841 | CV1003469 | single nucleotide variant | NM_001375834.1(WIPF1):c.393G>A (p.Pro131=) | Wiskott-Aldrich syndrome 2 [RCV001315424] | likely benign|uncertain significance | 2 | 174572412 | 174572412 | Human | 1 | name , alternate_id |
| 127244060 | CV1068363 | single nucleotide variant | NM_001375834.1(WIPF1):c.954G>A (p.Pro318=) | Wiskott-Aldrich syndrome 2 [RCV001398511] | likely benign | 2 | 174571851 | 174571851 | Human | 1 | name , alternate_id |
| 127241373 | CV1068364 | single nucleotide variant | NM_001375834.1(WIPF1):c.519G>A (p.Arg173=) | Wiskott-Aldrich syndrome 2 [RCV001393132] | likely benign | 2 | 174572286 | 174572286 | Human | 1 | name , alternate_id |
| 127243287 | CV1090080 | single nucleotide variant | NM_001375834.1(WIPF1):c.996A>G (p.Pro332=) | Wiskott-Aldrich syndrome 2 [RCV001423933] | likely benign | 2 | 174571809 | 174571809 | Human | 1 | name , alternate_id |
| 127251685 | CV1090081 | single nucleotide variant | NM_001375834.1(WIPF1):c.768C>T (p.Pro256=) | Wiskott-Aldrich syndrome 2 [RCV001425660] | likely benign | 2 | 174572037 | 174572037 | Human | 1 | name , alternate_id |
| 127308232 | CV1111577 | single nucleotide variant | NM_001375834.1(WIPF1):c.678C>T (p.Arg226=) | Wiskott-Aldrich syndrome 2 [RCV001456023] | likely benign | 2 | 174572127 | 174572127 | Human | 1 | name , alternate_id |
| 127320793 | CV1132475 | single nucleotide variant | NM_001375834.1(WIPF1):c.645C>T (p.Pro215=) | WIPF1-related disorder [RCV003948478]|Wiskott-Aldrich syndrome 2 [RCV001504530] | likely benign | 2 | 174572160 | 174572160 | Human | 1 | name , trait , alternate_id |
| 127302610 | CV1132476 | single nucleotide variant | NM_001375834.1(WIPF1):c.639C>T (p.Pro213=) | Wiskott-Aldrich syndrome 2 [RCV001478982] | likely benign | 2 | 174572166 | 174572166 | Human | 1 | name , alternate_id |
| 127334407 | CV1132477 | single nucleotide variant | NM_001375834.1(WIPF1):c.543T>C (p.Asp181=) | Wiskott-Aldrich syndrome 2 [RCV001490801] | likely benign | 2 | 174572262 | 174572262 | Human | 1 | name , alternate_id |
| 127317120 | CV1153886 | single nucleotide variant | NM_001375834.1(WIPF1):c.957T>G (p.Pro319=) | Wiskott-Aldrich syndrome 2 [RCV001520907]|not provided [RCV004710292] | benign | 2 | 174571848 | 174571848 | Human | 1 | name , alternate_id |
| 150511466 | CV1212752 | duplication | NM_001375834.1(WIPF1):c.358+238_358+239dup | not provided [RCV001597984] | benign | 2 | 174574953 | 174574954 | Human | | name |
| 151807041 | CV1340333 | single nucleotide variant | NM_001375834.1(WIPF1):c.55A>C (p.Asn19His) | Inborn genetic diseases [RCV005298897]|Wiskott-Aldrich syndrome 2 [RCV001867647] | uncertain significance | 2 | 174581436 | 174581436 | Human | 2 | name , alternate_id |
| 151818657 | CV1397549 | single nucleotide variant | NM_001375834.1(WIPF1):c.56A>G (p.Asn19Ser) | Wiskott-Aldrich syndrome 2 [RCV001992549] | uncertain significance | 2 | 174581435 | 174581435 | Human | 1 | name , alternate_id |
| 151843448 | CV1438520 | single nucleotide variant | NM_001375834.1(WIPF1):c.912A>G (p.Ser304=) | Wiskott-Aldrich syndrome 2 [RCV001921813] | likely benign | 2 | 174571893 | 174571893 | Human | 1 | name , alternate_id |
| 151889395 | CV1468649 | single nucleotide variant | NM_001375834.1(WIPF1):c.579C>T (p.Pro193=) | Wiskott-Aldrich syndrome 2 [RCV002001284] | likely benign | 2 | 174572226 | 174572226 | Human | 1 | name , alternate_id |
| 152082768 | CV1558957 | single nucleotide variant | NM_001375834.1(WIPF1):c.798A>G (p.Pro266=) | Wiskott-Aldrich syndrome 2 [RCV002149531] | likely benign | 2 | 174572007 | 174572007 | Human | 1 | name , alternate_id |
| 152109594 | CV1563904 | single nucleotide variant | NM_001375834.1(WIPF1):c.717C>T (p.Pro239=) | Wiskott-Aldrich syndrome 2 [RCV002174166] | likely benign | 2 | 174572088 | 174572088 | Human | 1 | name , alternate_id |
| 152035488 | CV1590405 | single nucleotide variant | NM_001375834.1(WIPF1):c.327G>A (p.Pro109=) | Wiskott-Aldrich syndrome 2 [RCV002205508] | likely benign | 2 | 174575235 | 174575235 | Human | 1 | name , alternate_id |
| 156063678 | CV1888667 | single nucleotide variant | NM_001375834.1(WIPF1):c.91G>T (p.Ala31Ser) | Wiskott-Aldrich syndrome 2 [RCV003079311] | uncertain significance | 2 | 174581400 | 174581400 | Human | 1 | name , alternate_id |
| 156236190 | CV1952792 | single nucleotide variant | NM_001375834.1(WIPF1):c.765C>A (p.Thr255=) | Wiskott-Aldrich syndrome 2 [RCV002576061] | likely benign | 2 | 174572040 | 174572040 | Human | 1 | name , alternate_id |
| 156237149 | CV1952841 | single nucleotide variant | NM_001375834.1(WIPF1):c.894G>A (p.Pro298=) | Wiskott-Aldrich syndrome 2 [RCV002576096] | likely benign | 2 | 174571911 | 174571911 | Human | 1 | name , alternate_id |
| 156121756 | CV1982791 | single nucleotide variant | NM_001375834.1(WIPF1):c.618G>A (p.Val206=) | Wiskott-Aldrich syndrome 2 [RCV002622971] | likely benign | 2 | 174572187 | 174572187 | Human | 1 | name , alternate_id |
| 156018180 | CV2019184 | single nucleotide variant | NM_001375834.1(WIPF1):c.984T>C (p.Asn328=) | Wiskott-Aldrich syndrome 2 [RCV002690868] | likely benign | 2 | 174571821 | 174571821 | Human | 1 | name , alternate_id |
| 156023588 | CV2040846 | single nucleotide variant | NM_001375834.1(WIPF1):c.444G>A (p.Gly148=) | Wiskott-Aldrich syndrome 2 [RCV002795702] | likely benign | 2 | 174572361 | 174572361 | Human | 1 | name , alternate_id |
| 156088596 | CV2080158 | single nucleotide variant | NM_001375834.1(WIPF1):c.606G>T (p.Gly202=) | Wiskott-Aldrich syndrome 2 [RCV002847631] | likely benign | 2 | 174572199 | 174572199 | Human | 1 | name , alternate_id |
| 156224822 | CV2089300 | single nucleotide variant | NM_001375834.1(WIPF1):c.483C>G (p.Pro161=) | Wiskott-Aldrich syndrome 2 [RCV002894324] | likely benign | 2 | 174572322 | 174572322 | Human | 1 | name , alternate_id |
| 156238139 | CV2090293 | single nucleotide variant | NM_001375834.1(WIPF1):c.432A>C (p.Pro144=) | Wiskott-Aldrich syndrome 2 [RCV002894812] | likely benign | 2 | 174572373 | 174572373 | Human | 1 | name , alternate_id |
| 156101232 | CV2132295 | single nucleotide variant | NM_001375834.1(WIPF1):c.34C>A (p.Pro12Thr) | Wiskott-Aldrich syndrome 2 [RCV003002221] | uncertain significance | 2 | 174585540 | 174585540 | Human | 1 | name , alternate_id |
| 401917089 | CV2819224 | single nucleotide variant | NM_001375834.1(WIPF1):c.492T>C (p.Pro164=) | not provided [RCV003429376] | likely benign | 2 | 174572313 | 174572313 | Human | | name |
| 405025521 | CV2874938 | single nucleotide variant | NM_001375834.1(WIPF1):c.510G>A (p.Pro170=) | Wiskott-Aldrich syndrome 2 [RCV003528948] | likely benign | 2 | 174572295 | 174572295 | Human | 1 | name , alternate_id |
| 405026525 | CV2879397 | single nucleotide variant | NM_001375834.1(WIPF1):c.961C>T (p.Leu321=) | Wiskott-Aldrich syndrome 2 [RCV003529035] | likely benign | 2 | 174571844 | 174571844 | Human | 1 | name , alternate_id |
| 405030839 | CV2890426 | single nucleotide variant | NM_001375834.1(WIPF1):c.936T>A (p.Pro312=) | Wiskott-Aldrich syndrome 2 [RCV003529412] | likely benign | 2 | 174571869 | 174571869 | Human | 1 | name , alternate_id |
| 405032346 | CV2902502 | single nucleotide variant | NM_001375834.1(WIPF1):c.615A>G (p.Pro205=) | Wiskott-Aldrich syndrome 2 [RCV003529536] | likely benign | 2 | 174572190 | 174572190 | Human | 1 | name , alternate_id |
| 405018230 | CV2924080 | single nucleotide variant | NM_001375834.1(WIPF1):c.810A>G (p.Pro270=) | Wiskott-Aldrich syndrome 2 [RCV003527955] | likely benign | 2 | 174571995 | 174571995 | Human | 1 | name , alternate_id |
| 402485983 | CV2961953 | single nucleotide variant | NM_001375834.1(WIPF1):c.978C>T (p.Ser326=) | Wiskott-Aldrich syndrome 2 [RCV003643313] | likely benign | 2 | 174571827 | 174571827 | Human | 1 | name , alternate_id |
| 405135725 | CV3115687 | single nucleotide variant | NM_001375834.1(WIPF1):c.621C>G (p.Pro207=) | Wiskott-Aldrich syndrome 2 [RCV003816344] | likely benign | 2 | 174572184 | 174572184 | Human | 1 | name , alternate_id |
| 405001675 | CV3120279 | single nucleotide variant | NM_001375834.1(WIPF1):c.843G>C (p.Ala281=) | Wiskott-Aldrich syndrome 2 [RCV003828069] | likely benign | 2 | 174571962 | 174571962 | Human | 1 | name , alternate_id |
| 402468409 | CV3174330 | single nucleotide variant | NM_001375834.1(WIPF1):c.762T>A (p.Pro254=) | Wiskott-Aldrich syndrome 2 [RCV003873613] | likely benign | 2 | 174572043 | 174572043 | Human | 1 | name , alternate_id |
| 597873653 | CV3747359 | single nucleotide variant | NM_001375834.1(WIPF1):c.903G>A (p.Ser301=) | Wiskott-Aldrich syndrome 2 [RCV005069043] | likely benign | 2 | 174571902 | 174571902 | Human | 1 | name , alternate_id |
| 597893071 | CV3763420 | single nucleotide variant | NM_001375834.1(WIPF1):c.366A>T (p.Gly122=) | Wiskott-Aldrich syndrome 2 [RCV005111000] | likely benign | 2 | 174572439 | 174572439 | Human | 1 | name , alternate_id |
| 597937272 | CV3787848 | single nucleotide variant | NM_001375834.1(WIPF1):c.771C>T (p.Ser257=) | Wiskott-Aldrich syndrome 2 [RCV005132727] | likely benign | 2 | 174572034 | 174572034 | Human | 1 | name , alternate_id |
| 597949596 | CV3797667 | single nucleotide variant | NM_001375834.1(WIPF1):c.909C>G (p.Ser303=) | Wiskott-Aldrich syndrome 2 [RCV005135659] | likely benign | 2 | 174571896 | 174571896 | Human | 1 | name , alternate_id |
| 597869356 | CV3803473 | single nucleotide variant | NM_001375834.1(WIPF1):c.627C>A (p.Gly209=) | Wiskott-Aldrich syndrome 2 [RCV005148070] | likely benign | 2 | 174572178 | 174572178 | Human | 1 | name , alternate_id |
| 597902862 | CV3804489 | single nucleotide variant | NM_001375834.1(WIPF1):c.657T>G (p.Pro219=) | Wiskott-Aldrich syndrome 2 [RCV005152924] | likely benign | 2 | 174572148 | 174572148 | Human | 1 | name , alternate_id |
| 597953739 | CV3808918 | single nucleotide variant | NM_001375834.1(WIPF1):c.735C>T (p.Pro245=) | Wiskott-Aldrich syndrome 2 [RCV005161836] | likely benign | 2 | 174572070 | 174572070 | Human | 1 | name , alternate_id |
| 597874435 | CV3812983 | single nucleotide variant | NM_001375834.1(WIPF1):c.849C>T (p.Pro283=) | Wiskott-Aldrich syndrome 2 [RCV005148919] | likely benign | 2 | 174571956 | 174571956 | Human | 1 | name , alternate_id |
| 597835904 | CV3828154 | single nucleotide variant | NM_001375834.1(WIPF1):c.627C>T (p.Gly209=) | Wiskott-Aldrich syndrome 2 [RCV005171046] | likely benign | 2 | 174572178 | 174572178 | Human | 1 | name , alternate_id |
| 597927562 | CV3855524 | deletion | NM_001375834.1(WIPF1):c.284del (p.Gly95fs) | Wiskott-Aldrich syndrome 2 [RCV005206123] | pathogenic | 2 | 174575278 | 174575278 | Human | 1 | name , alternate_id |
| 13478913 | CV449256 | single nucleotide variant | NM_001375834.1(WIPF1):c.339C>G (p.Ser113=) | WIPF1-related disorder [RCV003905433]|Wiskott-Aldrich syndrome 2 [RCV000527840]|not provided [RCV004708943] | benign | 2 | 174575223 | 174575223 | Human | 1 | name , trait , alternate_id |
| 13622687 | CV516847 | single nucleotide variant | NM_001375834.1(WIPF1):c.936T>G (p.Pro312=) | Wiskott-Aldrich syndrome 2 [RCV000650087] | likely benign | 2 | 174571869 | 174571869 | Human | 1 | name , alternate_id |
| 15133288 | CV732952 | single nucleotide variant | NM_001375834.1(WIPF1):c.927G>A (p.Pro309=) | Wiskott-Aldrich syndrome 2 [RCV005092664] | likely benign | 2 | 174571878 | 174571878 | Human | 1 | name , alternate_id |
| 15132220 | CV732953 | single nucleotide variant | NM_001375834.1(WIPF1):c.909C>T (p.Ser303=) | Wiskott-Aldrich syndrome 2 [RCV003528244] | likely benign | 2 | 174571896 | 174571896 | Human | 1 | name , alternate_id |
| 15163697 | CV746956 | single nucleotide variant | NM_001375834.1(WIPF1):c.987C>T (p.Asp329=) | Wiskott-Aldrich syndrome 2 [RCV000926193] | likely benign | 2 | 174571818 | 174571818 | Human | 1 | name , alternate_id |
| 15138821 | CV746957 | single nucleotide variant | NM_001375834.1(WIPF1):c.843G>T (p.Ala281=) | Wiskott-Aldrich syndrome 2 [RCV001404204] | likely benign | 2 | 174571962 | 174571962 | Human | 1 | name , alternate_id |
| 15121754 | CV762430 | single nucleotide variant | NM_001375834.1(WIPF1):c.975C>G (p.Ser325=) | Wiskott-Aldrich syndrome 2 [RCV000940578] | likely benign | 2 | 174571830 | 174571830 | Human | 1 | name , alternate_id |
| 15105761 | CV780966 | single nucleotide variant | NM_001375834.1(WIPF1):c.843G>A (p.Ala281=) | Wiskott-Aldrich syndrome 2 [RCV002066457] | likely benign | 2 | 174571962 | 174571962 | Human | 1 | name , alternate_id |
| 15113825 | CV780967 | single nucleotide variant | NM_001375834.1(WIPF1):c.759G>A (p.Pro253=) | Wiskott-Aldrich syndrome 2 [RCV001405157] | likely benign | 2 | 174572046 | 174572046 | Human | 1 | name , alternate_id |
| 15146321 | CV780969 | single nucleotide variant | NM_001375834.1(WIPF1):c.32C>T (p.Pro11Leu) | Wiskott-Aldrich syndrome 2 [RCV000983827] | likely benign | 2 | 174585542 | 174585542 | Human | 1 | name , alternate_id |
| 26915167 | CV825246 | single nucleotide variant | NM_001375834.1(WIPF1):c.76A>T (p.Asn26Tyr) | Wiskott-Aldrich syndrome 2 [RCV001055507] | uncertain significance | 2 | 174581415 | 174581415 | Human | 1 | name , alternate_id |
| 38475697 | CV942420 | single nucleotide variant | NM_001375834.1(WIPF1):c.38C>T (p.Pro13Leu) | Wiskott-Aldrich syndrome 2 [RCV001232744] | uncertain significance | 2 | 174585536 | 174585536 | Human | 1 | name , alternate_id |
| 126731223 | CV988159 | single nucleotide variant | NM_001375834.1(WIPF1):c.61G>A (p.Glu21Lys) | Wiskott-Aldrich syndrome 2 [RCV001303865] | uncertain significance | 2 | 174581430 | 174581430 | Human | 1 | name , alternate_id |
| 127284012 | CV1090078 | single nucleotide variant | NM_001375834.1(WIPF1):c.1314A>G (p.Arg438=) | Wiskott-Aldrich syndrome 2 [RCV001448917] | likely benign | 2 | 174567889 | 174567889 | Human | 1 | name , alternate_id |
| 127291502 | CV1111576 | single nucleotide variant | NM_001375834.1(WIPF1):c.1506G>A (p.Pro502=) | Wiskott-Aldrich syndrome 2 [RCV001458764] | likely benign | 2 | 174562553 | 174562553 | Human | 1 | name , alternate_id |
| 127335751 | CV1132474 | single nucleotide variant | NM_001375834.1(WIPF1):c.1230C>G (p.Pro410=) | Wiskott-Aldrich syndrome 2 [RCV001491701] | likely benign | 2 | 174567973 | 174567973 | Human | 1 | name , alternate_id |
| 151862906 | CV1353556 | single nucleotide variant | NM_001375834.1(WIPF1):c.1122C>T (p.Gly374=) | Wiskott-Aldrich syndrome 2 [RCV001924233] | likely benign|uncertain significance | 2 | 174571683 | 174571683 | Human | 1 | name , alternate_id |
| 151797314 | CV1377019 | single nucleotide variant | NM_001375834.1(WIPF1):c.244G>A (p.Gly82Arg) | Wiskott-Aldrich syndrome 2 [RCV001917382] | uncertain significance | 2 | 174575318 | 174575318 | Human | 1 | name , alternate_id |
| 151766472 | CV1418860 | single nucleotide variant | NM_001375834.1(WIPF1):c.181A>C (p.Lys61Gln) | Wiskott-Aldrich syndrome 2 [RCV001929098] | uncertain significance | 2 | 174581310 | 174581310 | Human | 1 | name , alternate_id |
| 151824323 | CV1421102 | single nucleotide variant | NM_001375834.1(WIPF1):c.211G>A (p.Gly71Ser) | Wiskott-Aldrich syndrome 2 [RCV001869922] | uncertain significance | 2 | 174575351 | 174575351 | Human | 1 | name , alternate_id |
| 152062771 | CV1524465 | single nucleotide variant | NM_001375834.1(WIPF1):c.1122C>A (p.Gly374=) | Wiskott-Aldrich syndrome 2 [RCV002146981] | likely benign | 2 | 174571683 | 174571683 | Human | 1 | name , alternate_id |
| 152039994 | CV1592897 | single nucleotide variant | NM_001375834.1(WIPF1):c.1299A>G (p.Pro433=) | Wiskott-Aldrich syndrome 2 [RCV002188111] | likely benign | 2 | 174567904 | 174567904 | Human | 1 | name , alternate_id |
| 152114947 | CV1637094 | single nucleotide variant | NM_001375834.1(WIPF1):c.1092A>G (p.Arg364=) | Wiskott-Aldrich syndrome 2 [RCV002216001]|not provided [RCV005242165] | likely benign | 2 | 174571713 | 174571713 | Human | 1 | name , alternate_id |
| 152136024 | CV1664315 | single nucleotide variant | NM_001375834.1(WIPF1):c.1050G>T (p.Ser350=) | Wiskott-Aldrich syndrome 2 [RCV002156151] | likely benign | 2 | 174571755 | 174571755 | Human | 1 | name , alternate_id |
| 155749117 | CV1770816 | single nucleotide variant | NM_001375834.1(WIPF1):c.116A>T (p.Asp39Val) | Wiskott-Aldrich syndrome 2 [RCV002304313] | uncertain significance | 2 | 174581375 | 174581375 | Human | 1 | name , alternate_id |
| 156013626 | CV1880715 | single nucleotide variant | NM_001375834.1(WIPF1):c.209G>A (p.Gly70Asp) | Wiskott-Aldrich syndrome 2 [RCV003077235] | uncertain significance | 2 | 174575353 | 174575353 | Human | 1 | name , alternate_id |
| 156412490 | CV1890631 | single nucleotide variant | NM_001375834.1(WIPF1):c.1110G>A (p.Arg370=) | Wiskott-Aldrich syndrome 2 [RCV003072914] | likely benign | 2 | 174571695 | 174571695 | Human | 1 | name , alternate_id |
| 156411542 | CV1973479 | single nucleotide variant | NM_001375834.1(WIPF1):c.265G>T (p.Gly89Cys) | Wiskott-Aldrich syndrome 2 [RCV002608282] | uncertain significance | 2 | 174575297 | 174575297 | Human | 1 | name , alternate_id |
| 156120555 | CV2039840 | single nucleotide variant | NM_001375834.1(WIPF1):c.253G>T (p.Gly85Cys) | Wiskott-Aldrich syndrome 2 [RCV002785774] | uncertain significance | 2 | 174575309 | 174575309 | Human | 1 | name , alternate_id |
| 156370572 | CV2174441 | single nucleotide variant | NM_001375834.1(WIPF1):c.1116G>T (p.Pro372=) | Wiskott-Aldrich syndrome 2 [RCV003049664] | likely benign | 2 | 174571689 | 174571689 | Human | 1 | name , alternate_id |
| 11525795 | CV246905 | single nucleotide variant | NM_001375834.1(WIPF1):c.208G>A (p.Gly70Ser) | Inborn genetic diseases [RCV002518507]|WIPF1-related disorder [RCV004757178]|Wiskott-Aldrich syndrome 2 [RCV000911281]|not provided [RCV004772885]|not specified [RCV000238882] | benign|likely benign|uncertain significance | 2 | 174575354 | 174575354 | Human | 2 | name , trait , alternate_id |
| 405024893 | CV2877359 | single nucleotide variant | NM_001375834.1(WIPF1):c.1218A>T (p.Gly406=) | Wiskott-Aldrich syndrome 2 [RCV003528893] | likely benign | 2 | 174567985 | 174567985 | Human | 1 | name , alternate_id |
| 405025470 | CV2878442 | single nucleotide variant | NM_001375834.1(WIPF1):c.1236T>C (p.Ser412=) | Wiskott-Aldrich syndrome 2 [RCV003528944] | likely benign | 2 | 174567967 | 174567967 | Human | 1 | name , alternate_id |
| 402484875 | CV2945122 | single nucleotide variant | NM_001375834.1(WIPF1):c.1263T>C (p.Asp421=) | Wiskott-Aldrich syndrome 2 [RCV003643177] | likely benign | 2 | 174567940 | 174567940 | Human | 1 | name , alternate_id |
| 402494692 | CV3005899 | single nucleotide variant | NM_001375834.1(WIPF1):c.1080G>C (p.Pro360=) | Wiskott-Aldrich syndrome 2 [RCV003644230] | likely benign | 2 | 174571725 | 174571725 | Human | 1 | name , alternate_id |
| 402495185 | CV3007019 | single nucleotide variant | NM_001375834.1(WIPF1):c.1050G>A (p.Ser350=) | Wiskott-Aldrich syndrome 2 [RCV003644288] | likely benign | 2 | 174571755 | 174571755 | Human | 1 | name , alternate_id |
| 402494200 | CV3012010 | single nucleotide variant | NM_001375834.1(WIPF1):c.1131C>A (p.Gly377=) | Wiskott-Aldrich syndrome 2 [RCV003644171] | likely benign | 2 | 174568072 | 174568072 | Human | 1 | name , alternate_id |
| 402478668 | CV3038387 | single nucleotide variant | NM_001375834.1(WIPF1):c.1131C>T (p.Gly377=) | Wiskott-Aldrich syndrome 2 [RCV003642376] | likely benign | 2 | 174568072 | 174568072 | Human | 1 | name , alternate_id |
| 402478952 | CV3046688 | single nucleotide variant | NM_001375834.1(WIPF1):c.1017G>A (p.Leu339=) | Wiskott-Aldrich syndrome 2 [RCV003642478] | likely benign | 2 | 174571788 | 174571788 | Human | 1 | name , alternate_id |
| 405175916 | CV3119259 | single nucleotide variant | NM_001375834.1(WIPF1):c.271A>C (p.Ser91Arg) | Wiskott-Aldrich syndrome 2 [RCV003819544] | uncertain significance | 2 | 174575291 | 174575291 | Human | 1 | name , alternate_id |
| 405028695 | CV3129850 | single nucleotide variant | NM_001375834.1(WIPF1):c.1335A>C (p.Pro445=) | Wiskott-Aldrich syndrome 2 [RCV003830448] | likely benign | 2 | 174567868 | 174567868 | Human | 1 | name , alternate_id |
| 402471059 | CV3171477 | single nucleotide variant | NM_001375834.1(WIPF1):c.1264A>C (p.Arg422=) | Wiskott-Aldrich syndrome 2 [RCV003874261] | likely benign | 2 | 174567939 | 174567939 | Human | 1 | name , alternate_id |
| 597630998 | CV3630279 | single nucleotide variant | NM_001375834.1(WIPF1):c.205G>A (p.Gly69Ser) | Inborn genetic diseases [RCV004967475] | likely benign | 2 | 174575357 | 174575357 | Human | 1 | name |
| 597906416 | CV3738757 | single nucleotide variant | NM_001375834.1(WIPF1):c.1095C>G (p.Pro365=) | Wiskott-Aldrich syndrome 2 [RCV005072992] | likely benign | 2 | 174571710 | 174571710 | Human | 1 | name , alternate_id |
| 597907888 | CV3781576 | single nucleotide variant | NM_001375834.1(WIPF1):c.1011G>A (p.Arg337=) | Wiskott-Aldrich syndrome 2 [RCV005128264] | likely benign | 2 | 174571794 | 174571794 | Human | 1 | name , alternate_id |
| 597924788 | CV3840465 | single nucleotide variant | NM_001375834.1(WIPF1):c.253G>C (p.Gly85Arg) | Wiskott-Aldrich syndrome 2 [RCV005184936] | uncertain significance | 2 | 174575309 | 174575309 | Human | 1 | name , alternate_id |
| 597901620 | CV3845470 | single nucleotide variant | NM_001375834.1(WIPF1):c.155A>G (p.Asn52Ser) | Wiskott-Aldrich syndrome 2 [RCV005181280] | uncertain significance | 2 | 174581336 | 174581336 | Human | 1 | name , alternate_id |
| 12896013 | CV389450 | single nucleotide variant | NM_001375834.1(WIPF1):c.1446C>T (p.Asn482=) | Wiskott-Aldrich syndrome 2 [RCV000549553]|not provided [RCV004711110]|not specified [RCV000454764] | benign|likely benign | 2 | 174567080 | 174567080 | Human | 1 | name , alternate_id |
| 598233225 | CV3929725 | single nucleotide variant | NM_001375834.1(WIPF1):c.109C>G (p.Leu37Val) | Inborn genetic diseases [RCV005295534] | uncertain significance | 2 | 174581382 | 174581382 | Human | 1 | name |
| 13491792 | CV448986 | single nucleotide variant | NM_001375834.1(WIPF1):c.1413G>A (p.Thr471=) | Wiskott-Aldrich syndrome 2 [RCV000534485]|not provided [RCV004708942] | benign | 2 | 174567113 | 174567113 | Human | 1 | name , alternate_id |
| 13622686 | CV516692 | single nucleotide variant | NM_001375834.1(WIPF1):c.1380C>T (p.Ser460=) | Wiskott-Aldrich syndrome 2 [RCV000650086] | likely benign|conflicting interpretations of pathogenicity | 2 | 174567146 | 174567146 | Human | 1 | name , alternate_id |
| 13622758 | CV516838 | single nucleotide variant | NM_001375834.1(WIPF1):c.1296A>G (p.Pro432=) | WIPF1-related disorder [RCV003937960]|Wiskott-Aldrich syndrome 2 [RCV000650089] | benign | 2 | 174567907 | 174567907 | Human | 1 | name , trait , alternate_id |
| 13622684 | CV516851 | single nucleotide variant | NM_001375834.1(WIPF1):c.235G>A (p.Gly79Arg) | Inborn genetic diseases [RCV003258910]|Wiskott-Aldrich syndrome 2 [RCV000650084] | uncertain significance | 2 | 174575327 | 174575327 | Human | 2 | name , alternate_id |
| 13813124 | CV559398 | single nucleotide variant | NM_001375834.1(WIPF1):c.100A>G (p.Asn34Asp) | Inborn genetic diseases [RCV004965702]|Wiskott-Aldrich syndrome 2 [RCV000704150] | uncertain significance | 2 | 174581391 | 174581391 | Human | 2 | name , alternate_id |
| 15157620 | CV732950 | single nucleotide variant | NM_001375834.1(WIPF1):c.1227T>C (p.Ser409=) | Wiskott-Aldrich syndrome 2 [RCV000902566] | benign | 2 | 174567976 | 174567976 | Human | 1 | name , alternate_id |
| 15185473 | CV732951 | single nucleotide variant | NM_001375834.1(WIPF1):c.1164C>T (p.Asn388=) | Wiskott-Aldrich syndrome 2 [RCV000908539] | benign | 2 | 174568039 | 174568039 | Human | 1 | name , alternate_id |
| 15115566 | CV732955 | single nucleotide variant | NM_001375834.1(WIPF1):c.212G>A (p.Gly71Asp) | Wiskott-Aldrich syndrome 2 [RCV000895047] | likely benign | 2 | 174575350 | 174575350 | Human | 1 | name , alternate_id |
| 15196995 | CV762428 | single nucleotide variant | NM_001375834.1(WIPF1):c.1374G>A (p.Pro458=) | Wiskott-Aldrich syndrome 2 [RCV001453393] | likely benign | 2 | 174567152 | 174567152 | Human | 1 | name , alternate_id |
| 15201705 | CV762429 | single nucleotide variant | NM_001375834.1(WIPF1):c.1116G>A (p.Pro372=) | Wiskott-Aldrich syndrome 2 [RCV000935737]|not provided [RCV003438600] | likely benign | 2 | 174571689 | 174571689 | Human | 1 | name , alternate_id |
| 15128819 | CV780964 | single nucleotide variant | NM_001375834.1(WIPF1):c.1497T>A (p.Pro499=) | Wiskott-Aldrich syndrome 2 [RCV000980777] | likely benign | 2 | 174562562 | 174562562 | Human | 1 | name , alternate_id |
| 15133022 | CV780965 | single nucleotide variant | NM_001375834.1(WIPF1):c.1170C>T (p.Ser390=) | Wiskott-Aldrich syndrome 2 [RCV000981485] | likely benign | 2 | 174568033 | 174568033 | Human | 1 | name , alternate_id |
| 8625207 | CV80326 | single nucleotide variant | NM_001077269.1(WIPF1):c.269G>A (p.Gly90Glu) | Malignant melanoma [RCV000060403] | not provided | 2 | 174575293 | 174575293 | Human | | name |
| 26912923 | CV825243 | single nucleotide variant | NM_001375834.1(WIPF1):c.232G>A (p.Gly78Ser) | Wiskott-Aldrich syndrome 2 [RCV001053919] | uncertain significance | 2 | 174575330 | 174575330 | Human | 1 | name , alternate_id |
| 26900891 | CV825245 | single nucleotide variant | NM_001375834.1(WIPF1):c.122G>A (p.Ser41Asn) | Inborn genetic diseases [RCV002553208]|Wiskott-Aldrich syndrome 2 [RCV001049693] | likely benign|uncertain significance | 2 | 174581369 | 174581369 | Human | 2 | name , alternate_id |
| 38470710 | CV942419 | single nucleotide variant | NM_001375834.1(WIPF1):c.235G>C (p.Gly79Arg) | Wiskott-Aldrich syndrome 2 [RCV001231043] | uncertain significance | 2 | 174575327 | 174575327 | Human | 1 | name , alternate_id |
| 126738727 | CV1003467 | single nucleotide variant | NM_001375834.1(WIPF1):c.698G>T (p.Gly233Val) | Inborn genetic diseases [RCV002543863]|Wiskott-Aldrich syndrome 2 [RCV001324961] | uncertain significance | 2 | 174572107 | 174572107 | Human | 2 | name , alternate_id |
| 126771185 | CV1003468 | single nucleotide variant | NM_001375834.1(WIPF1):c.419C>T (p.Pro140Leu) | Wiskott-Aldrich syndrome 2 [RCV001323011] | uncertain significance | 2 | 174572386 | 174572386 | Human | 1 | name , alternate_id |
| 126772860 | CV1023922 | single nucleotide variant | NM_001375834.1(WIPF1):c.509C>G (p.Pro170Arg) | Wiskott-Aldrich syndrome 2 [RCV001345862] | uncertain significance | 2 | 174572296 | 174572296 | Human | 1 | name , alternate_id |
| 126921080 | CV1040822 | single nucleotide variant | NM_001375834.1(WIPF1):c.811G>C (p.Val271Leu) | Wiskott-Aldrich syndrome 2 [RCV001374185] | uncertain significance | 2 | 174571994 | 174571994 | Human | 1 | name , alternate_id |
| 126924418 | CV1040823 | single nucleotide variant | NM_001375834.1(WIPF1):c.707G>C (p.Arg236Pro) | Wiskott-Aldrich syndrome 2 [RCV001367009] | uncertain significance | 2 | 174572098 | 174572098 | Human | 1 | name , alternate_id |
| 126910155 | CV1040824 | single nucleotide variant | NM_001375834.1(WIPF1):c.668C>G (p.Pro223Arg) | Wiskott-Aldrich syndrome 2 [RCV001368795] | uncertain significance | 2 | 174572137 | 174572137 | Human | 1 | name , alternate_id |
| 126916235 | CV1040825 | single nucleotide variant | NM_001375834.1(WIPF1):c.613C>A (p.Pro205Thr) | Wiskott-Aldrich syndrome 2 [RCV001371386] | uncertain significance | 2 | 174572192 | 174572192 | Human | 1 | name , alternate_id |
| 126917751 | CV1040826 | single nucleotide variant | NM_001375834.1(WIPF1):c.601C>T (p.Arg201Trp) | Inborn genetic diseases [RCV003298615]|Wiskott-Aldrich syndrome 2 [RCV001372255] | uncertain significance | 2 | 174572204 | 174572204 | Human | 2 | name , alternate_id |
| 126909354 | CV1040827 | single nucleotide variant | NM_001375834.1(WIPF1):c.595C>T (p.His199Tyr) | Wiskott-Aldrich syndrome 2 [RCV001368427] | uncertain significance | 2 | 174572210 | 174572210 | Human | 1 | name , alternate_id |
| 151863134 | CV1347730 | single nucleotide variant | NM_001375834.1(WIPF1):c.469C>T (p.His157Tyr) | Wiskott-Aldrich syndrome 2 [RCV001959485] | uncertain significance | 2 | 174572336 | 174572336 | Human | 1 | name , alternate_id |
| 151816069 | CV1389341 | single nucleotide variant | NM_001375834.1(WIPF1):c.392C>T (p.Pro131Leu) | Wiskott-Aldrich syndrome 2 [RCV002012920] | uncertain significance | 2 | 174572413 | 174572413 | Human | 1 | name , alternate_id |
| 151848194 | CV1433485 | single nucleotide variant | NM_001375834.1(WIPF1):c.664T>G (p.Phe222Val) | Wiskott-Aldrich syndrome 2 [RCV001978574] | uncertain significance | 2 | 174572141 | 174572141 | Human | 1 | name , alternate_id |
| 151817779 | CV1441242 | single nucleotide variant | NM_001375834.1(WIPF1):c.870C>G (p.Asn290Lys) | Wiskott-Aldrich syndrome 2 [RCV001933844] | uncertain significance | 2 | 174571935 | 174571935 | Human | 1 | name , alternate_id |
| 151788686 | CV1450679 | single nucleotide variant | NM_001375834.1(WIPF1):c.857C>T (p.Pro286Leu) | Wiskott-Aldrich syndrome 2 [RCV001931191] | uncertain significance | 2 | 174571948 | 174571948 | Human | 1 | name , alternate_id |
| 151834885 | CV1452864 | single nucleotide variant | NM_001375834.1(WIPF1):c.694G>A (p.Gly232Arg) | Inborn genetic diseases [RCV003164228]|Wiskott-Aldrich syndrome 2 [RCV001880674] | uncertain significance | 2 | 174572111 | 174572111 | Human | 2 | name , alternate_id |
| 151754098 | CV1453799 | single nucleotide variant | NM_001375834.1(WIPF1):c.971G>A (p.Ser324Asn) | Wiskott-Aldrich syndrome 2 [RCV001913278] | uncertain significance | 2 | 174571834 | 174571834 | Human | 1 | name , alternate_id |
| 151853095 | CV1456861 | single nucleotide variant | NM_001375834.1(WIPF1):c.757C>T (p.Pro253Ser) | Wiskott-Aldrich syndrome 2 [RCV001882998] | uncertain significance | 2 | 174572048 | 174572048 | Human | 1 | name , alternate_id |
| 151801864 | CV1458740 | single nucleotide variant | NM_001375834.1(WIPF1):c.778T>A (p.Leu260Met) | Wiskott-Aldrich syndrome 2 [RCV002028170] | uncertain significance | 2 | 174572027 | 174572027 | Human | 1 | name , alternate_id |
| 151775199 | CV1463518 | single nucleotide variant | NM_001375834.1(WIPF1):c.409T>C (p.Ser137Pro) | Wiskott-Aldrich syndrome 2 [RCV001896730] | uncertain significance | 2 | 174572396 | 174572396 | Human | 1 | name , alternate_id |
| 151740028 | CV1492390 | single nucleotide variant | NM_001375834.1(WIPF1):c.320G>C (p.Gly107Ala) | Wiskott-Aldrich syndrome 2 [RCV002042140] | uncertain significance | 2 | 174575242 | 174575242 | Human | 1 | name , alternate_id |
| 151734741 | CV1502344 | single nucleotide variant | NM_001375834.1(WIPF1):c.679G>T (p.Gly227Cys) | Wiskott-Aldrich syndrome 2 [RCV001911257] | uncertain significance | 2 | 174572126 | 174572126 | Human | 1 | name , alternate_id |
| 151820691 | CV1510557 | single nucleotide variant | NM_001375834.1(WIPF1):c.827C>G (p.Ser276Cys) | Wiskott-Aldrich syndrome 2 [RCV001934115] | uncertain significance | 2 | 174571978 | 174571978 | Human | 1 | name , alternate_id |
| 152072562 | CV1551665 | single nucleotide variant | NM_001375834.1(WIPF1):c.590G>A (p.Ser197Asn) | WIPF1-related disorder [RCV003968838]|Wiskott-Aldrich syndrome 2 [RCV002075301] | likely benign | 2 | 174572215 | 174572215 | Human | 1 | name , trait , alternate_id |
| 152078373 | CV1666468 | single nucleotide variant | NM_001375834.1(WIPF1):c.551C>T (p.Pro184Leu) | Wiskott-Aldrich syndrome 2 [RCV002210907]|not provided [RCV002261458] | uncertain significance | 2 | 174572254 | 174572254 | Human | 1 | name , alternate_id |
| 156159641 | CV1872210 | single nucleotide variant | NM_001375834.1(WIPF1):c.723C>A (p.Ser241Arg) | Wiskott-Aldrich syndrome 2 [RCV003056845] | uncertain significance | 2 | 174572082 | 174572082 | Human | 1 | name , alternate_id |
| 156119620 | CV1873843 | single nucleotide variant | NM_001375834.1(WIPF1):c.983A>G (p.Asn328Ser) | Inborn genetic diseases [RCV004676128]|Wiskott-Aldrich syndrome 2 [RCV003081381] | uncertain significance | 2 | 174571822 | 174571822 | Human | 2 | name , alternate_id |
| 156445078 | CV1938952 | single nucleotide variant | NM_001375834.1(WIPF1):c.374G>A (p.Arg125Gln) | Inborn genetic diseases [RCV004245927]|Wiskott-Aldrich syndrome 2 [RCV003116013] | uncertain significance | 2 | 174572431 | 174572431 | Human | 2 | name , alternate_id |
| 156219140 | CV1960078 | single nucleotide variant | NM_001375834.1(WIPF1):c.403T>G (p.Ser135Ala) | Wiskott-Aldrich syndrome 2 [RCV002575457] | uncertain significance | 2 | 174572402 | 174572402 | Human | 1 | name , alternate_id |
| 156003890 | CV2014899 | single nucleotide variant | NM_001375834.1(WIPF1):c.679G>A (p.Gly227Ser) | Wiskott-Aldrich syndrome 2 [RCV002690181] | uncertain significance | 2 | 174572126 | 174572126 | Human | 1 | name , alternate_id |
| 156122456 | CV2020896 | single nucleotide variant | NM_001375834.1(WIPF1):c.893C>G (p.Pro298Arg) | Wiskott-Aldrich syndrome 2 [RCV002740252] | uncertain significance | 2 | 174571912 | 174571912 | Human | 1 | name , alternate_id |
| 155905665 | CV2027563 | single nucleotide variant | NM_001375834.1(WIPF1):c.532T>A (p.Ser178Thr) | Wiskott-Aldrich syndrome 2 [RCV002726454] | uncertain significance | 2 | 174572273 | 174572273 | Human | 1 | name , alternate_id |
| 156003556 | CV2041805 | single nucleotide variant | NM_001375834.1(WIPF1):c.926C>T (p.Pro309Leu) | Wiskott-Aldrich syndrome 2 [RCV002756320] | uncertain significance | 2 | 174571879 | 174571879 | Human | 1 | name , alternate_id |
| 156000230 | CV2045513 | single nucleotide variant | NM_001375834.1(WIPF1):c.422T>C (p.Phe141Ser) | Inborn genetic diseases [RCV002780104]|Wiskott-Aldrich syndrome 2 [RCV002756166] | uncertain significance | 2 | 174572383 | 174572383 | Human | 2 | name , alternate_id |
| 156311787 | CV2063465 | single nucleotide variant | NM_001375834.1(WIPF1):c.941G>A (p.Ser314Asn) | Wiskott-Aldrich syndrome 2 [RCV002834165] | uncertain significance | 2 | 174571864 | 174571864 | Human | 1 | name , alternate_id |
| 156299715 | CV2069844 | single nucleotide variant | NM_001375834.1(WIPF1):c.764C>A (p.Thr255Asn) | Wiskott-Aldrich syndrome 2 [RCV002833563] | uncertain significance | 2 | 174572041 | 174572041 | Human | 1 | name , alternate_id |
| 156366420 | CV2116572 | single nucleotide variant | NM_001375834.1(WIPF1):c.326C>T (p.Pro109Leu) | Wiskott-Aldrich syndrome 2 [RCV002941984] | uncertain significance | 2 | 174575236 | 174575236 | Human | 1 | name , alternate_id |
| 155934252 | CV2129389 | single nucleotide variant | NM_001375834.1(WIPF1):c.560T>C (p.Val187Ala) | Wiskott-Aldrich syndrome 2 [RCV002970818] | uncertain significance | 2 | 174572245 | 174572245 | Human | 1 | name , alternate_id |
| 156312603 | CV2160524 | single nucleotide variant | NM_001375834.1(WIPF1):c.427C>A (p.Pro143Thr) | Wiskott-Aldrich syndrome 2 [RCV003046118] | uncertain significance | 2 | 174572378 | 174572378 | Human | 1 | name , alternate_id |
| 156085037 | CV2184415 | single nucleotide variant | NM_001375834.1(WIPF1):c.980G>A (p.Gly327Asp) | Wiskott-Aldrich syndrome 2 [RCV003054159] | uncertain significance | 2 | 174571825 | 174571825 | Human | 1 | name , alternate_id |
| 156118656 | CV2279093 | single nucleotide variant | NM_001375834.1(WIPF1):c.677G>A (p.Arg226His) | Inborn genetic diseases [RCV002848915] | uncertain significance | 2 | 174572128 | 174572128 | Human | 1 | name |
| 329402545 | CV2454693 | single nucleotide variant | NM_001375834.1(WIPF1):c.505A>T (p.Met169Leu) | Inborn genetic diseases [RCV003199387] | uncertain significance | 2 | 174572300 | 174572300 | Human | 1 | name |
| 401720758 | CV2702095 | single nucleotide variant | NM_001375834.1(WIPF1):c.596A>G (p.His199Arg) | Inborn genetic diseases [RCV003267346] | uncertain significance | 2 | 174572209 | 174572209 | Human | 1 | name |
| 401925003 | CV2819225 | single nucleotide variant | NM_001375834.1(WIPF1):c.484C>T (p.Pro162Ser) | not provided [RCV003436252] | uncertain significance | 2 | 174572321 | 174572321 | Human | | name |
| 401961468 | CV2843786 | single nucleotide variant | NM_001375834.1(WIPF1):c.874C>T (p.Pro292Ser) | not provided [RCV003481624] | uncertain significance | 2 | 174571931 | 174571931 | Human | | name |
| 402491012 | CV2978322 | single nucleotide variant | NM_001375834.1(WIPF1):c.587C>G (p.Ser196Ter) | Wiskott-Aldrich syndrome 2 [RCV003643830] | pathogenic | 2 | 174572218 | 174572218 | Human | 1 | name , alternate_id |
| 405811814 | CV3352759 | single nucleotide variant | NM_001375834.1(WIPF1):c.637C>T (p.Pro213Ser) | Inborn genetic diseases [RCV004482957] | uncertain significance | 2 | 174572168 | 174572168 | Human | 1 | name |
| 405811818 | CV3352761 | single nucleotide variant | NM_001375834.1(WIPF1):c.950G>C (p.Gly317Ala) | Inborn genetic diseases [RCV004482959] | uncertain significance | 2 | 174571855 | 174571855 | Human | 1 | name |
| 407524578 | CV3487871 | single nucleotide variant | NM_001375834.1(WIPF1):c.661C>A (p.Pro221Thr) | Inborn genetic diseases [RCV004678476] | uncertain significance | 2 | 174572144 | 174572144 | Human | 1 | name |
| 596927638 | CV3540026 | single nucleotide variant | NM_001375834.1(WIPF1):c.433A>G (p.Ser145Gly) | not provided [RCV004791018] | uncertain significance | 2 | 174572372 | 174572372 | Human | | name |
| 597630986 | CV3630274 | single nucleotide variant | NM_001375834.1(WIPF1):c.859C>T (p.Pro287Ser) | Inborn genetic diseases [RCV004967470] | uncertain significance | 2 | 174571946 | 174571946 | Human | 1 | name |
| 597630988 | CV3630275 | single nucleotide variant | NM_001375834.1(WIPF1):c.689T>C (p.Leu230Ser) | Inborn genetic diseases [RCV004967471] | uncertain significance | 2 | 174572116 | 174572116 | Human | 1 | name |
| 597630991 | CV3630276 | single nucleotide variant | NM_001375834.1(WIPF1):c.445A>G (p.Arg149Gly) | Inborn genetic diseases [RCV004967472] | uncertain significance | 2 | 174572360 | 174572360 | Human | 1 | name |
| 597961952 | CV3795319 | single nucleotide variant | NM_001375834.1(WIPF1):c.359A>T (p.Asp120Val) | Wiskott-Aldrich syndrome 2 [RCV005139011] | uncertain significance | 2 | 174572446 | 174572446 | Human | 1 | name , alternate_id |
| 597848372 | CV3824104 | single nucleotide variant | NM_001375834.1(WIPF1):c.373C>T (p.Arg125Ter) | Wiskott-Aldrich syndrome 2 [RCV005173343] | pathogenic | 2 | 174572432 | 174572432 | Human | 1 | name , alternate_id |
| 597916545 | CV3845804 | single nucleotide variant | NM_001375834.1(WIPF1):c.467G>A (p.Gly156Asp) | Wiskott-Aldrich syndrome 2 [RCV005183599] | uncertain significance | 2 | 174572338 | 174572338 | Human | 1 | name , alternate_id |
| 12896747 | CV389462 | single nucleotide variant | NM_001375834.1(WIPF1):c.593C>T (p.Pro198Leu) | Wiskott-Aldrich syndrome 2 [RCV000986931]|not provided [RCV001637033]|not specified [RCV000455771] | benign | 2 | 174572212 | 174572212 | Human | 1 | name , alternate_id |
| 13815499 | CV559396 | single nucleotide variant | NM_001375834.1(WIPF1):c.860C>T (p.Pro287Leu) | Wiskott-Aldrich syndrome 2 [RCV000691643] | uncertain significance | 2 | 174571945 | 174571945 | Human | 1 | name , alternate_id |
| 14724980 | CV629013 | single nucleotide variant | NM_001375834.1(WIPF1):c.776C>T (p.Ala259Val) | Inborn genetic diseases [RCV002537093]|Wiskott-Aldrich syndrome 2 [RCV000798621]|not provided [RCV002261208] | uncertain significance | 2 | 174572029 | 174572029 | Human | 2 | name , alternate_id |
| 14733617 | CV629014 | single nucleotide variant | NM_001375834.1(WIPF1):c.712T>C (p.Ser238Pro) | Inborn genetic diseases [RCV003166379]|Wiskott-Aldrich syndrome 2 [RCV000818774] | uncertain significance | 2 | 174572093 | 174572093 | Human | 2 | name , alternate_id |
| 14735019 | CV629015 | single nucleotide variant | NM_001375834.1(WIPF1):c.473G>A (p.Arg158Lys) | Wiskott-Aldrich syndrome 2 [RCV000819400]|not provided [RCV001090464] | uncertain significance | 2 | 174572332 | 174572332 | Human | 1 | name , alternate_id |
| 15182904 | CV707859 | single nucleotide variant | NM_001375834.1(WIPF1):c.978C>G (p.Ser326Arg) | Wiskott-Aldrich syndrome 2 [RCV000974749] | likely benign | 2 | 174571827 | 174571827 | Human | 1 | name , alternate_id |
| 26895555 | CV825239 | single nucleotide variant | NM_001375834.1(WIPF1):c.848C>G (p.Pro283Arg) | Wiskott-Aldrich syndrome 2 [RCV001047930]|not provided [RCV003480923] | uncertain significance | 2 | 174571957 | 174571957 | Human | 1 | name , alternate_id |
| 26922402 | CV825240 | single nucleotide variant | NM_001375834.1(WIPF1):c.430C>A (p.Pro144Thr) | Inborn genetic diseases [RCV002553912]|Wiskott-Aldrich syndrome 2 [RCV001062007] | uncertain significance | 2 | 174572375 | 174572375 | Human | 2 | name , alternate_id |
| 26898659 | CV825241 | single nucleotide variant | NM_001375834.1(WIPF1):c.401G>A (p.Arg134Lys) | Wiskott-Aldrich syndrome 2 [RCV001034760] | uncertain significance | 2 | 174572404 | 174572404 | Human | 1 | name , alternate_id |
| 38479021 | CV922416 | single nucleotide variant | NM_001375834.1(WIPF1):c.605G>C (p.Gly202Ala) | Wiskott-Aldrich syndrome 2 [RCV001216880] | uncertain significance | 2 | 174572200 | 174572200 | Human | 1 | name , alternate_id |
| 38498228 | CV942416 | single nucleotide variant | NM_001375834.1(WIPF1):c.811G>A (p.Val271Met) | Wiskott-Aldrich syndrome 2 [RCV001227646] | uncertain significance | 2 | 174571994 | 174571994 | Human | 1 | name , alternate_id |
| 38481204 | CV942417 | single nucleotide variant | NM_001375834.1(WIPF1):c.650C>T (p.Pro217Leu) | WIPF1-related disorder [RCV003898229]|Wiskott-Aldrich syndrome 2 [RCV001235016] | uncertain significance | 2 | 174572155 | 174572155 | Human | 1 | name , trait , alternate_id |
| 38494914 | CV942418 | single nucleotide variant | NM_001375834.1(WIPF1):c.509C>T (p.Pro170Leu) | Inborn genetic diseases [RCV003284078]|Wiskott-Aldrich syndrome 2 [RCV001225388] | uncertain significance | 2 | 174572296 | 174572296 | Human | 2 | name , alternate_id |
| 38495458 | CV952791 | single nucleotide variant | NM_001375834.1(WIPF1):c.841G>C (p.Ala281Pro) | Inborn genetic diseases [RCV002564013]|Wiskott-Aldrich syndrome 2 [RCV001241950]|not provided [RCV004692303] | uncertain significance | 2 | 174571964 | 174571964 | Human | 2 | name , alternate_id |
| 38499557 | CV952792 | single nucleotide variant | NM_001375834.1(WIPF1):c.600C>G (p.Asn200Lys) | Wiskott-Aldrich syndrome 2 [RCV001244790] | uncertain significance | 2 | 174572205 | 174572205 | Human | 1 | name , alternate_id |
| 38493779 | CV952793 | single nucleotide variant | NM_001375834.1(WIPF1):c.430C>G (p.Pro144Ala) | Inborn genetic diseases [RCV003339555]|Wiskott-Aldrich syndrome 2 [RCV001240892] | uncertain significance | 2 | 174572375 | 174572375 | Human | 2 | name , alternate_id |
| 38598570 | CV964756 | single nucleotide variant | NM_001375834.1(WIPF1):c.709C>T (p.Gln237Ter) | Wiskott-Aldrich syndrome 2 [RCV001253818] | pathogenic | 2 | 174572096 | 174572096 | Human | 1 | name , alternate_id |
| 126756562 | CV988157 | single nucleotide variant | NM_001375834.1(WIPF1):c.979G>A (p.Gly327Ser) | Inborn genetic diseases [RCV004036113]|Wiskott-Aldrich syndrome 2 [RCV001298626] | uncertain significance | 2 | 174571826 | 174571826 | Human | 2 | name , alternate_id |
| 126765479 | CV988158 | single nucleotide variant | NM_001375834.1(WIPF1):c.413C>T (p.Ala138Val) | Wiskott-Aldrich syndrome 2 [RCV001301505] | uncertain significance | 2 | 174572392 | 174572392 | Human | 1 | name , alternate_id |
| 126738782 | CV1019494 | single nucleotide variant | NM_001375834.1(WIPF1):c.1006C>T (p.Gln336Ter) | Wiskott-Aldrich syndrome 2 [RCV001335603] | pathogenic | 2 | 174571799 | 174571799 | Human | | name , alternate_id |
| 126772662 | CV1023920 | single nucleotide variant | NM_001375834.1(WIPF1):c.1233G>T (p.Arg411Ser) | Wiskott-Aldrich syndrome 2 [RCV001345748] | uncertain significance | 2 | 174567970 | 174567970 | Human | 1 | name , alternate_id |
| 126763810 | CV1023921 | single nucleotide variant | NM_001375834.1(WIPF1):c.1100C>T (p.Pro367Leu) | Wiskott-Aldrich syndrome 2 [RCV001341422] | uncertain significance | 2 | 174571705 | 174571705 | Human | 1 | name , alternate_id |
| 126921289 | CV1040819 | single nucleotide variant | NM_001375834.1(WIPF1):c.1481G>A (p.Gly494Asp) | Wiskott-Aldrich syndrome 2 [RCV001363389] | uncertain significance | 2 | 174562578 | 174562578 | Human | 1 | name , alternate_id |
| 126918929 | CV1040820 | single nucleotide variant | NM_001375834.1(WIPF1):c.1177C>T (p.Arg393Trp) | Inborn genetic diseases [RCV002548666]|Wiskott-Aldrich syndrome 2 [RCV001372945] | uncertain significance | 2 | 174568026 | 174568026 | Human | 2 | name , alternate_id |
| 126915037 | CV1040821 | single nucleotide variant | NM_001375834.1(WIPF1):c.1094C>T (p.Pro365Leu) | Wiskott-Aldrich syndrome 2 [RCV001359753] | uncertain significance | 2 | 174571711 | 174571711 | Human | 1 | name , alternate_id |
| 127289358 | CV1151973 | single nucleotide variant | NM_001375834.1(WIPF1):c.1412C>T (p.Thr471Met) | Wiskott-Aldrich syndrome 2 [RCV001865954]|not provided [RCV001509174] | uncertain significance | 2 | 174567114 | 174567114 | Human | 1 | name , alternate_id |
| 151805183 | CV1371942 | single nucleotide variant | NM_001375834.1(WIPF1):c.1316A>G (p.Asn439Ser) | Wiskott-Aldrich syndrome 2 [RCV001953293] | uncertain significance | 2 | 174567887 | 174567887 | Human | 1 | name , alternate_id |
| 151793628 | CV1372438 | single nucleotide variant | NM_001375834.1(WIPF1):c.1373C>T (p.Pro458Leu) | Wiskott-Aldrich syndrome 2 [RCV001973277] | uncertain significance | 2 | 174567153 | 174567153 | Human | 1 | name , alternate_id |
| 151878840 | CV1395454 | single nucleotide variant | NM_001375834.1(WIPF1):c.1303A>G (p.Thr435Ala) | Wiskott-Aldrich syndrome 2 [RCV001999270] | uncertain significance | 2 | 174567900 | 174567900 | Human | 1 | name , alternate_id |
| 151737287 | CV1410704 | single nucleotide variant | NM_001375834.1(WIPF1):c.1034C>T (p.Thr345Met) | Wiskott-Aldrich syndrome 2 [RCV002005446] | uncertain significance | 2 | 174571771 | 174571771 | Human | 1 | name , alternate_id |
| 151745584 | CV1433104 | single nucleotide variant | NM_001375834.1(WIPF1):c.1258C>T (p.Pro420Ser) | Wiskott-Aldrich syndrome 2 [RCV001968602] | uncertain significance | 2 | 174567945 | 174567945 | Human | 1 | name , alternate_id |
| 151867825 | CV1437905 | single nucleotide variant | NM_001375834.1(WIPF1):c.1505C>T (p.Pro502Leu) | Wiskott-Aldrich syndrome 2 [RCV001906096] | uncertain significance | 2 | 174562554 | 174562554 | Human | 1 | name , alternate_id |
| 151751981 | CV1457386 | single nucleotide variant | NM_001375834.1(WIPF1):c.1289C>A (p.Pro430Gln) | Inborn genetic diseases [RCV004970451]|Wiskott-Aldrich syndrome 2 [RCV001913073] | uncertain significance | 2 | 174567914 | 174567914 | Human | 2 | name , alternate_id |
| 151757410 | CV1459753 | single nucleotide variant | NM_001375834.1(WIPF1):c.1133C>T (p.Pro378Leu) | Wiskott-Aldrich syndrome 2 [RCV001986890] | uncertain significance | 2 | 174568070 | 174568070 | Human | 1 | name , alternate_id |
| 151775346 | CV1463575 | single nucleotide variant | NM_001375834.1(WIPF1):c.1453C>T (p.Arg485Trp) | Wiskott-Aldrich syndrome 2 [RCV001896742] | uncertain significance | 2 | 174567073 | 174567073 | Human | 1 | name , alternate_id |
| 151797451 | CV1467707 | single nucleotide variant | NM_001375834.1(WIPF1):c.1196C>G (p.Pro399Arg) | Wiskott-Aldrich syndrome 2 [RCV001952607] | uncertain significance | 2 | 174568007 | 174568007 | Human | 1 | name , alternate_id |
| 155742926 | CV1777452 | single nucleotide variant | NM_001375834.1(WIPF1):c.1361T>A (p.Phe454Tyr) | Wiskott-Aldrich syndrome 2 [RCV002302954] | uncertain significance | 2 | 174567165 | 174567165 | Human | 1 | name , alternate_id |
| 156229787 | CV1888941 | single nucleotide variant | NM_001375834.1(WIPF1):c.1457G>A (p.Ser486Asn) | Wiskott-Aldrich syndrome 2 [RCV003085317] | uncertain significance | 2 | 174562602 | 174562602 | Human | 1 | name , alternate_id |
| 156088283 | CV1919617 | single nucleotide variant | NM_001375834.1(WIPF1):c.1007A>G (p.Gln336Arg) | Wiskott-Aldrich syndrome 2 [RCV002591818] | uncertain significance | 2 | 174571798 | 174571798 | Human | 1 | name , alternate_id |
| 156367682 | CV1925754 | single nucleotide variant | NM_001375834.1(WIPF1):c.1364A>G (p.Tyr455Cys) | Wiskott-Aldrich syndrome 2 [RCV002633135] | uncertain significance | 2 | 174567162 | 174567162 | Human | 1 | name , alternate_id |
| 156036251 | CV1932758 | single nucleotide variant | NM_001375834.1(WIPF1):c.1435C>G (p.Leu479Val) | Wiskott-Aldrich syndrome 2 [RCV002637384] | uncertain significance | 2 | 174567091 | 174567091 | Human | 1 | name , alternate_id |
| 156396514 | CV2012390 | single nucleotide variant | NM_001375834.1(WIPF1):c.1426C>A (p.Pro476Thr) | Wiskott-Aldrich syndrome 2 [RCV002725598] | uncertain significance | 2 | 174567100 | 174567100 | Human | 1 | name , alternate_id |
| 156245724 | CV2053314 | single nucleotide variant | NM_001375834.1(WIPF1):c.1043T>C (p.Leu348Ser) | Wiskott-Aldrich syndrome 2 [RCV002791513] | uncertain significance | 2 | 174571762 | 174571762 | Human | 1 | name , alternate_id |
| 156256869 | CV2056870 | single nucleotide variant | NM_001375834.1(WIPF1):c.1271G>T (p.Ser424Ile) | Wiskott-Aldrich syndrome 2 [RCV002791882] | uncertain significance | 2 | 174567932 | 174567932 | Human | 1 | name , alternate_id |
| 156114931 | CV2058434 | single nucleotide variant | NM_001375834.1(WIPF1):c.1283C>G (p.Pro428Arg) | Wiskott-Aldrich syndrome 2 [RCV002825071] | uncertain significance | 2 | 174567920 | 174567920 | Human | 1 | name , alternate_id |
| 156297416 | CV2069722 | single nucleotide variant | NM_001375834.1(WIPF1):c.1141C>T (p.Pro381Ser) | Wiskott-Aldrich syndrome 2 [RCV002833463] | uncertain significance | 2 | 174568062 | 174568062 | Human | 1 | name , alternate_id |
| 156263721 | CV2095617 | single nucleotide variant | NM_001375834.1(WIPF1):c.1000C>T (p.Leu334Phe) | Wiskott-Aldrich syndrome 2 [RCV002895675] | uncertain significance | 2 | 174571805 | 174571805 | Human | 1 | name , alternate_id |
| 155987541 | CV2137052 | single nucleotide variant | NM_001375834.1(WIPF1):c.1252C>T (p.Leu418Phe) | Wiskott-Aldrich syndrome 2 [RCV002996404] | uncertain significance | 2 | 174567951 | 174567951 | Human | 1 | name , alternate_id |
| 156315371 | CV2250762 | single nucleotide variant | NM_001375834.1(WIPF1):c.1113C>A (p.Asp371Glu) | Inborn genetic diseases [RCV002809455] | uncertain significance | 2 | 174571692 | 174571692 | Human | 1 | name |
| 156250848 | CV2286763 | single nucleotide variant | NM_001375834.1(WIPF1):c.1036C>T (p.Pro346Ser) | Inborn genetic diseases [RCV002854824] | uncertain significance | 2 | 174571769 | 174571769 | Human | 1 | name |
| 11525677 | CV246904 | single nucleotide variant | NM_001375834.1(WIPF1):c.1246C>T (p.Pro416Ser) | not specified [RCV000238701] | uncertain significance | 2 | 174567957 | 174567957 | Human | | name |
| 402495492 | CV3017757 | single nucleotide variant | NM_001375834.1(WIPF1):c.1181C>T (p.Ala394Val) | Wiskott-Aldrich syndrome 2 [RCV003644322] | uncertain significance | 2 | 174568022 | 174568022 | Human | 1 | name , alternate_id |
| 405811810 | CV3352757 | single nucleotide variant | NM_001375834.1(WIPF1):c.1070T>C (p.Leu357Pro) | Inborn genetic diseases [RCV004482955] | uncertain significance | 2 | 174571735 | 174571735 | Human | 1 | name |
| 597630984 | CV3630273 | single nucleotide variant | NM_001375834.1(WIPF1):c.1405G>A (p.Val469Ile) | Inborn genetic diseases [RCV004967469] | uncertain significance | 2 | 174567121 | 174567121 | Human | 1 | name |
| 597630994 | CV3630277 | single nucleotide variant | NM_001375834.1(WIPF1):c.1187C>T (p.Pro396Leu) | Inborn genetic diseases [RCV004967473] | uncertain significance | 2 | 174568016 | 174568016 | Human | 1 | name |
| 597908059 | CV3738976 | single nucleotide variant | NM_001375834.1(WIPF1):c.1196C>T (p.Pro399Leu) | Wiskott-Aldrich syndrome 2 [RCV005073211] | uncertain significance | 2 | 174568007 | 174568007 | Human | 1 | name , alternate_id |
| 8568231 | CV39222 | single nucleotide variant | NM_001375834.1(WIPF1):c.1301C>G (p.Ser434Ter) | Wiskott-Aldrich syndrome 2 [RCV000023193] | pathogenic | 2 | 174567902 | 174567902 | Human | 1 | name , alternate_id |
| 13496961 | CV449283 | single nucleotide variant | NM_001375834.1(WIPF1):c.1037C>T (p.Pro346Leu) | WIPF1-related disorder [RCV003952837]|Wiskott-Aldrich syndrome 2 [RCV000560718]|not provided [RCV001796117] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 2 | 174571768 | 174571768 | Human | 1 | name , trait , alternate_id |
| 13622685 | CV516730 | single nucleotide variant | NM_001375834.1(WIPF1):c.1085G>A (p.Ser362Asn) | Wiskott-Aldrich syndrome 2 [RCV000650085] | uncertain significance | 2 | 174571720 | 174571720 | Human | 1 | name , alternate_id |
| 13622683 | CV516732 | single nucleotide variant | NM_001375834.1(WIPF1):c.1084A>G (p.Ser362Gly) | Wiskott-Aldrich syndrome 2 [RCV000650083] | uncertain significance | 2 | 174571721 | 174571721 | Human | 1 | name , alternate_id |
| 26894557 | CV825238 | single nucleotide variant | NM_001375834.1(WIPF1):c.1454G>A (p.Arg485Gln) | Wiskott-Aldrich syndrome 2 [RCV001069375] | uncertain significance | 2 | 174567072 | 174567072 | Human | 1 | name , alternate_id |
| 38477259 | CV922415 | single nucleotide variant | NM_001375834.1(WIPF1):c.1252C>G (p.Leu418Val) | Wiskott-Aldrich syndrome 2 [RCV001216055] | uncertain significance | 2 | 174567951 | 174567951 | Human | 1 | name , alternate_id |
| 38482311 | CV942415 | single nucleotide variant | NM_001375834.1(WIPF1):c.1441A>G (p.Arg481Gly) | Wiskott-Aldrich syndrome 2 [RCV001235441] | uncertain significance | 2 | 174567085 | 174567085 | Human | 1 | name , alternate_id |
| 38497437 | CV952789 | single nucleotide variant | NM_001375834.1(WIPF1):c.1295C>T (p.Pro432Leu) | Wiskott-Aldrich syndrome 2 [RCV001243170]|not provided [RCV004692309] | uncertain significance | 2 | 174567908 | 174567908 | Human | 1 | name , alternate_id |
| 38499644 | CV952790 | single nucleotide variant | NM_001375834.1(WIPF1):c.1229C>A (p.Pro410His) | Wiskott-Aldrich syndrome 2 [RCV001244906]|not provided [RCV004793353] | uncertain significance | 2 | 174567974 | 174567974 | Human | 1 | name , alternate_id |
| 40888166 | CV961928 | single nucleotide variant | NM_001375834.1(WIPF1):c.1162A>C (p.Asn388His) | Wiskott-Aldrich syndrome 2 [RCV001267737] | uncertain significance | 2 | 174568041 | 174568041 | Human | 1 | name , alternate_id |
| 126731727 | CV988155 | single nucleotide variant | NM_001375834.1(WIPF1):c.1468C>T (p.Arg490Ter) | Wiskott-Aldrich syndrome 2 [RCV001303957] | uncertain significance | 2 | 174562591 | 174562591 | Human | 1 | name , alternate_id |
| 126766111 | CV988156 | single nucleotide variant | NM_001375834.1(WIPF1):c.1078C>T (p.Pro360Ser) | Wiskott-Aldrich syndrome 2 [RCV001301756] | uncertain significance | 2 | 174571727 | 174571727 | Human | 1 | name , alternate_id |
| 13622759 | CV516736 | microsatellite | NM_001375834.1(WIPF1):c.851CTC[5] (p.Pro287dup) | Wiskott-Aldrich syndrome 2 [RCV000650088] | likely benign | 2 | 174571942 | 174571943 | Human | | name , alternate_id |
| 14724424 | CV629012 | microsatellite | NM_001375834.1(WIPF1):c.851CTC[3] (p.Pro287del) | Wiskott-Aldrich syndrome 2 [RCV000814777]|not provided [RCV004792520] | uncertain significance | 2 | 174571943 | 174571945 | Human | | name , alternate_id |
| 38488141 | CV922417 | indel | NM_001375834.1(WIPF1):c.19_20delinsAG (p.Pro7Arg) | Wiskott-Aldrich syndrome 2 [RCV001221076] | uncertain significance | 2 | 174585554 | 174585555 | Human | | name , alternate_id |
| 151816896 | CV1385552 | duplication | NM_001375834.1(WIPF1):c.267_287dup (p.Gly90_Gly96dup) | Wiskott-Aldrich syndrome 2 [RCV002012994] | uncertain significance | 2 | 174575274 | 174575275 | Human | 1 | name , alternate_id |
| 26905158 | CV825242 | deletion | NM_001375834.1(WIPF1):c.255_269del (p.Gly86_Gly90del) | Wiskott-Aldrich syndrome 2 [RCV001036888]|not provided [RCV004693458] | uncertain significance | 2 | 174575293 | 174575307 | Human | 1 | name , alternate_id |
| 156002073 | CV2106823 | duplication | NM_001375834.1(WIPF1):c.217_219dup (p.Gly73_Phe74insGly) | Wiskott-Aldrich syndrome 2 [RCV002947838] | uncertain significance | 2 | 174575342 | 174575343 | Human | 1 | name , alternate_id |
| 156450274 | CV1945814 | duplication | NC_000002.11:g.(?_175427275)_(175629122_?)dup | Wiskott-Aldrich syndrome 2 [RCV003122429] | uncertain significance | | | | Human | 1 | alternate_id |
| 405872433 | CV3405853 | duplication | NC_000002.11:g.(?_175427275)_(175450301_?)dup | Wiskott-Aldrich syndrome 2 [RCV004583675] | uncertain significance | | | | Human | 1 | alternate_id |
| 14715703 | CV650788 | duplication | NC_000002.11:g.(?_175427255)_(175450321_?)dup | Wiskott-Aldrich syndrome 2 [RCV000801344] | uncertain significance | 2 | 174562527 | 174585593 | Human | 1 | alternate_id |
