| 8559431 | CV21637 | deletion | RFXANK, 58-BP DEL | Bare lymphocyte syndrome, type II, complementation group B [RCV000006977] | pathogenic | | | | Human | | name |
| 8559430 | CV21636 | deletion | RFXANK, 26-BP DEL, NT752 | Bare lymphocyte syndrome, type II, complementation group B [RCV000006976] | pathogenic | | | | Human | | name |
| 11630728 | CV348465 | single nucleotide variant | NM_003721.4(RFXANK):c.*9T>C | MHC class II deficiency [RCV000357844]|RFXANK-related disorder [RCV003972390] | benign|likely benign | 19 | 19201728 | 19201728 | Human | 3 | name , trait , alternate_id |
| 11626542 | CV349589 | single nucleotide variant | NM_003721.4(RFXANK):c.*12C>T | MHC class II deficiency [RCV000265325] | benign|uncertain significance | 19 | 19201731 | 19201731 | Human | 1 | name |
| 11619017 | CV332938 | single nucleotide variant | NM_003721.4(RFXANK):c.-328G>A | MHC class II deficiency [RCV000320647]|not provided [RCV004703770] | likely benign | 19 | 19192376 | 19192376 | Human | 1 | name |
| 11625860 | CV332940 | single nucleotide variant | NM_003721.4(RFXANK):c.-116T>C | MHC class II deficiency [RCV000404126]|not provided [RCV004703772] | likely benign | 19 | 19192993 | 19192993 | Human | 1 | name |
| 11661617 | CV343087 | single nucleotide variant | NM_003721.3(RFXANK):c.-495C>G | MHC class II deficiency [RCV000378443] | uncertain significance | 19 | 19192209 | 19192209 | Human | 1 | name |
| 11620330 | CV343090 | single nucleotide variant | NM_003721.4(RFXANK):c.-229C>T | MHC class II deficiency [RCV000335779]|not provided [RCV004703771] | likely benign | 19 | 19192475 | 19192475 | Human | 1 | name |
| 11627502 | CV348445 | single nucleotide variant | NM_003721.4(RFXANK):c.-366C>A | MHC class II deficiency [RCV000284045] | likely benign | 19 | 19192338 | 19192338 | Human | 1 | name |
| 11631364 | CV348455 | single nucleotide variant | NM_003721.4(RFXANK):c.-298C>T | MHC class II deficiency [RCV000375237] | uncertain significance | 19 | 19192406 | 19192406 | Human | 1 | name |
| 11627336 | CV348456 | single nucleotide variant | NM_003721.4(RFXANK):c.-240A>T | MHC class II deficiency [RCV000280692] | likely benign | 19 | 19192464 | 19192464 | Human | 1 | name |
| 127235252 | CV1084533 | single nucleotide variant | NM_003721.4(RFXANK):c.272-4C>G | MHC class II deficiency [RCV001391827] | likely benign | 19 | 19197182 | 19197182 | Human | 1 | name |
| 127282165 | CV1084534 | single nucleotide variant | NM_003721.4(RFXANK):c.632-4G>T | MHC class II deficiency [RCV001410969] | likely benign | 19 | 19199150 | 19199150 | Human | 1 | name |
| 127245011 | CV1106307 | single nucleotide variant | NM_003721.4(RFXANK):c.713-8C>G | MHC class II deficiency [RCV001435143] | likely benign | 19 | 19201641 | 19201641 | Human | 1 | name |
| 127300353 | CV1127711 | single nucleotide variant | NM_003721.4(RFXANK):c.565-6C>T | MHC class II deficiency [RCV001453867] | likely benign | 19 | 19198651 | 19198651 | Human | 1 | name |
| 151808910 | CV1337292 | deletion | NM_003721.4(RFXANK):c.188-2del | MHC class II deficiency [RCV002028777] | likely pathogenic | 19 | 19196961 | 19196961 | Human | 1 | name |
| 151740738 | CV1402223 | single nucleotide variant | NM_003721.4(RFXANK):c.272-3C>T | MHC class II deficiency [RCV001911905] | uncertain significance | 19 | 19197183 | 19197183 | Human | 1 | name |
| 151765168 | CV1407760 | single nucleotide variant | NM_003721.4(RFXANK):c.564+6G>A | MHC class II deficiency [RCV002044706] | uncertain significance | 19 | 19198238 | 19198238 | Human | 1 | name |
| 151716829 | CV1513144 | single nucleotide variant | NM_003721.4(RFXANK):c.438+5G>T | MHC class II deficiency [RCV001890462] | uncertain significance | 19 | 19197626 | 19197626 | Human | 1 | name |
| 152157679 | CV1541829 | single nucleotide variant | NM_003721.4(RFXANK):c.439-4G>T | MHC class II deficiency [RCV002103188] | likely benign | 19 | 19198103 | 19198103 | Human | 1 | name |
| 152115917 | CV1553308 | single nucleotide variant | NM_003721.4(RFXANK):c.439-7C>T | MHC class II deficiency [RCV002080890] | likely benign | 19 | 19198100 | 19198100 | Human | 1 | name |
| 152163196 | CV1561240 | single nucleotide variant | NM_003721.4(RFXANK):c.187+9C>G | MHC class II deficiency [RCV002104190] | likely benign | 19 | 19194142 | 19194142 | Human | 1 | name |
| 152025569 | CV1586398 | single nucleotide variant | NM_003721.4(RFXANK):c.631+7G>A | MHC class II deficiency [RCV002184863] | likely benign | 19 | 19198730 | 19198730 | Human | 1 | name |
| 152039181 | CV1616989 | single nucleotide variant | NM_003721.4(RFXANK):c.565-9C>T | MHC class II deficiency [RCV002087699] | likely benign | 19 | 19198648 | 19198648 | Human | 1 | name |
| 156384877 | CV2001730 | single nucleotide variant | NM_003721.4(RFXANK):c.713-7A>G | MHC class II deficiency [RCV002653919] | likely benign | 19 | 19201642 | 19201642 | Human | 1 | name |
| 155989940 | CV2053219 | single nucleotide variant | NM_003721.4(RFXANK):c.439-5T>C | MHC class II deficiency [RCV002819159] | likely benign | 19 | 19198102 | 19198102 | Human | 1 | name |
| 8559432 | CV21638 | single nucleotide variant | NM_003721.4(RFXANK):c.271+1G>C | MHC class II deficiency 2 [RCV004576879]|MHC class II deficiency 3 [RCV004018579]|MHC class II deficiency [RCV001261596] | pathogenic|likely pathogenic | 19 | 19197047 | 19197047 | Human | 3 | name |
| 11060010 | CV226973 | single nucleotide variant | NM_003721.4(RFXANK):c.438+1G>T | Inborn genetic diseases [RCV000210620] | pathogenic | 19 | 19197622 | 19197622 | Human | 1 | name |
| 11525716 | CV247161 | single nucleotide variant | NM_003721.4(RFXANK):c.337+4C>T | MHC class II deficiency [RCV000537193]|not provided [RCV001531456]|not specified [RCV000238709] | benign|likely benign | 19 | 19197255 | 19197255 | Human | 1 | name |
| 329847112 | CV2524179 | single nucleotide variant | NM_003721.4(RFXANK):c.564+2T>C | MHC class II deficiency [RCV003226887] | likely pathogenic | 19 | 19198234 | 19198234 | Human | 1 | name |
| 405160503 | CV3077622 | single nucleotide variant | NM_003721.4(RFXANK):c.713-5C>A | MHC class II deficiency [RCV003637578] | likely benign | 19 | 19201644 | 19201644 | Human | 1 | name |
| 11630994 | CV348464 | single nucleotide variant | NM_003721.4(RFXANK):c.712+4A>G | MHC class II deficiency [RCV000363677]|RFXANK-related disorder [RCV003972389] | benign|likely benign | 19 | 19199238 | 19199238 | Human | 3 | name , trait , alternate_id |
| 597647568 | CV3709393 | single nucleotide variant | NM_003721.4(RFXANK):c.272-2A>C | MHC class II deficiency 2 [RCV005026439] | likely pathogenic | 19 | 19197184 | 19197184 | Human | 1 | name |
| 597832074 | CV3751249 | single nucleotide variant | NM_003721.4(RFXANK):c.272-6C>T | MHC class II deficiency [RCV005084795] | likely benign | 19 | 19197180 | 19197180 | Human | 1 | name |
| 597939035 | CV3775231 | single nucleotide variant | NM_003721.4(RFXANK):c.439-6C>T | MHC class II deficiency [RCV005118057] | likely benign | 19 | 19198101 | 19198101 | Human | 1 | name |
| 597892487 | CV3809799 | single nucleotide variant | NM_003721.4(RFXANK):c.564+7G>A | MHC class II deficiency [RCV005151520] | likely benign | 19 | 19198239 | 19198239 | Human | 1 | name |
| 597886334 | CV3854932 | single nucleotide variant | NM_003721.4(RFXANK):c.338-9T>A | MHC class II deficiency [RCV005199778] | likely benign | 19 | 19197512 | 19197512 | Human | 1 | name |
| 13818325 | CV572993 | single nucleotide variant | NM_003721.4(RFXANK):c.337+5G>A | MHC class II deficiency [RCV000707632]|not provided [RCV003480798] | uncertain significance | 19 | 19197256 | 19197256 | Human | 1 | name |
| 14701590 | CV653157 | single nucleotide variant | NM_003721.4(RFXANK):c.438+4C>T | MHC class II deficiency [RCV000817905] | uncertain significance | 19 | 19197625 | 19197625 | Human | 1 | name |
| 15201366 | CV776575 | single nucleotide variant | NM_003721.4(RFXANK):c.713-6T>C | MHC class II deficiency [RCV001472880] | likely benign | 19 | 19201643 | 19201643 | Human | 1 | name |
| 15113843 | CV788044 | single nucleotide variant | NM_003721.4(RFXANK):c.564+9C>T | MHC class II deficiency [RCV001486735] | likely benign | 19 | 19198241 | 19198241 | Human | 1 | name |
| 15128379 | CV788313 | single nucleotide variant | NM_003721.4(RFXANK):c.438+8C>G | MHC class II deficiency [RCV000980707] | likely benign | 19 | 19197629 | 19197629 | Human | 1 | name |
| 26888309 | CV852328 | single nucleotide variant | NM_003721.4(RFXANK):c.438+5G>A | MHC class II deficiency 2 [RCV004576981]|MHC class II deficiency [RCV001047583] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 19 | 19197626 | 19197626 | Human | 2 | name |
| 41408176 | CV980964 | single nucleotide variant | NM_003721.4(RFXANK):c.713-1G>A | MHC class II deficiency [RCV001283768] | pathogenic|likely pathogenic|uncertain significance | 19 | 19201648 | 19201648 | Human | 1 | name |
| 151811233 | CV1393536 | single nucleotide variant | NM_003721.4(RFXANK):c.713-20T>C | MHC class II deficiency [RCV001953842] | likely benign | 19 | 19201629 | 19201629 | Human | 1 | name |
| 151740111 | CV1477709 | single nucleotide variant | NM_003721.4(RFXANK):c.338-15G>A | MHC class II deficiency [RCV001947019] | likely benign | 19 | 19197506 | 19197506 | Human | 1 | name |
| 152037289 | CV1571978 | single nucleotide variant | NM_003721.4(RFXANK):c.438+13C>A | MHC class II deficiency [RCV002205808] | likely benign | 19 | 19197634 | 19197634 | Human | 1 | name |
| 152107216 | CV1581840 | single nucleotide variant | NM_003721.4(RFXANK):c.188-19C>T | MHC class II deficiency [RCV002079769]|not provided [RCV004704670] | likely benign | 19 | 19196944 | 19196944 | Human | 1 | name |
| 152055750 | CV1588041 | single nucleotide variant | NM_003721.4(RFXANK):c.188-17T>C | MHC class II deficiency [RCV002189939] | likely benign | 19 | 19196946 | 19196946 | Human | 1 | name |
| 152056479 | CV1588244 | single nucleotide variant | NM_003721.4(RFXANK):c.564+19C>T | MHC class II deficiency [RCV002190027] | likely benign | 19 | 19198251 | 19198251 | Human | 1 | name |
| 152049554 | CV1602449 | single nucleotide variant | NM_003721.4(RFXANK):c.631+13C>T | MHC class II deficiency [RCV002127069] | likely benign | 19 | 19198736 | 19198736 | Human | 1 | name |
| 152036371 | CV1636331 | single nucleotide variant | NM_003721.4(RFXANK):c.565-13C>T | MHC class II deficiency [RCV002087275] | likely benign | 19 | 19198644 | 19198644 | Human | 1 | name |
| 152034846 | CV1639582 | single nucleotide variant | NM_003721.4(RFXANK):c.272-16C>T | MHC class II deficiency [RCV002187323] | likely benign | 19 | 19197170 | 19197170 | Human | 1 | name |
| 152144430 | CV1658137 | single nucleotide variant | NM_003721.4(RFXANK):c.272-17C>T | MHC class II deficiency [RCV002219816] | likely benign | 19 | 19197169 | 19197169 | Human | 1 | name |
| 156000894 | CV1872847 | single nucleotide variant | NM_003721.4(RFXANK):c.632-19C>T | MHC class II deficiency [RCV003076579] | likely benign | 19 | 19199135 | 19199135 | Human | 1 | name |
| 156022295 | CV1899375 | single nucleotide variant | NM_003721.4(RFXANK):c.632-18C>T | MHC class II deficiency [RCV003100257] | likely benign | 19 | 19199136 | 19199136 | Human | 1 | name |
| 156417149 | CV1915656 | single nucleotide variant | NM_003721.4(RFXANK):c.631+14G>A | MHC class II deficiency [RCV002610562] | likely benign | 19 | 19198737 | 19198737 | Human | 1 | name |
| 156245584 | CV1956949 | single nucleotide variant | NM_003721.4(RFXANK):c.564+18C>T | MHC class II deficiency [RCV002576374] | likely benign | 19 | 19198250 | 19198250 | Human | 1 | name |
| 156274515 | CV2046316 | single nucleotide variant | NM_003721.4(RFXANK):c.565-16C>T | MHC class II deficiency [RCV002770166] | likely benign | 19 | 19198641 | 19198641 | Human | 1 | name |
| 156251631 | CV2116980 | single nucleotide variant | NM_003721.4(RFXANK):c.337+16C>T | MHC class II deficiency [RCV002933570] | likely benign | 19 | 19197267 | 19197267 | Human | 1 | name |
| 156259583 | CV2159426 | single nucleotide variant | NM_003721.4(RFXANK):c.631+16G>T | MHC class II deficiency [RCV003026614] | likely benign | 19 | 19198739 | 19198739 | Human | 1 | name |
| 156117668 | CV2174096 | single nucleotide variant | NM_003721.4(RFXANK):c.188-15T>C | MHC class II deficiency [RCV003055342] | likely benign | 19 | 19196948 | 19196948 | Human | 1 | name |
| 156066094 | CV2176004 | single nucleotide variant | NM_003721.4(RFXANK):c.338-13C>A | MHC class II deficiency [RCV003053570] | likely benign | 19 | 19197508 | 19197508 | Human | 1 | name |
| 156393902 | CV2181684 | single nucleotide variant | NM_003721.4(RFXANK):c.631+16G>A | MHC class II deficiency [RCV003051632] | likely benign | 19 | 19198739 | 19198739 | Human | 1 | name |
| 404982739 | CV2849165 | single nucleotide variant | NM_003721.4(RFXANK):c.187+23A>G | not specified [RCV003489037] | benign | 19 | 19194156 | 19194156 | Human | | name |
| 405065532 | CV2902271 | single nucleotide variant | NM_003721.4(RFXANK):c.712+13C>T | MHC class II deficiency [RCV003523466] | likely benign | 19 | 19199247 | 19199247 | Human | 1 | name |
| 405060010 | CV2933611 | single nucleotide variant | NM_003721.4(RFXANK):c.631+19T>G | MHC class II deficiency [RCV003522887] | likely benign | 19 | 19198742 | 19198742 | Human | 1 | name |
| 405143819 | CV2945569 | single nucleotide variant | NM_003721.4(RFXANK):c.337+18T>C | MHC class II deficiency [RCV003636180] | likely benign | 19 | 19197269 | 19197269 | Human | 1 | name |
| 405140674 | CV3043171 | single nucleotide variant | NM_003721.4(RFXANK):c.338-16C>T | MHC class II deficiency [RCV003635805] | likely benign | 19 | 19197505 | 19197505 | Human | 1 | name |
| 405146579 | CV3051453 | single nucleotide variant | NM_003721.4(RFXANK):c.271+17T>A | MHC class II deficiency [RCV003636426] | likely benign | 19 | 19197063 | 19197063 | Human | 1 | name |
| 405149544 | CV3061782 | single nucleotide variant | NM_003721.4(RFXANK):c.188-19C>G | MHC class II deficiency [RCV003636693] | likely benign | 19 | 19196944 | 19196944 | Human | 1 | name |
| 405148226 | CV3067343 | single nucleotide variant | NM_003721.4(RFXANK):c.712+19G>C | MHC class II deficiency [RCV003636577] | likely benign | 19 | 19199253 | 19199253 | Human | 1 | name |
| 405158060 | CV3073582 | single nucleotide variant | NM_003721.4(RFXANK):c.188-20G>A | MHC class II deficiency [RCV003637386] | likely benign | 19 | 19196943 | 19196943 | Human | 1 | name |
| 405160470 | CV3077479 | single nucleotide variant | NM_003721.4(RFXANK):c.188-10T>C | MHC class II deficiency [RCV003637575] | likely benign | 19 | 19196953 | 19196953 | Human | 1 | name |
| 405095080 | CV3119021 | single nucleotide variant | NM_003721.4(RFXANK):c.338-15G>C | MHC class II deficiency [RCV003811472] | likely benign | 19 | 19197506 | 19197506 | Human | 1 | name |
| 405049804 | CV3150870 | single nucleotide variant | NM_003721.4(RFXANK):c.338-12T>C | MHC class II deficiency [RCV003849474] | likely benign | 19 | 19197509 | 19197509 | Human | 1 | name |
| 405250136 | CV3180647 | single nucleotide variant | NM_003721.4(RFXANK):c.272-20C>G | MHC class II deficiency [RCV003869924] | likely benign | 19 | 19197166 | 19197166 | Human | 1 | name |
| 405283469 | CV3202720 | single nucleotide variant | NM_003721.4(RFXANK):c.188-21C>T | RFXANK-related disorder [RCV003921826] | likely benign | 19 | 19196942 | 19196942 | Human | | name , trait , alternate_id |
| 11621653 | CV332945 | single nucleotide variant | NM_003721.4(RFXANK):c.187+13C>T | MHC class II deficiency [RCV000351131] | conflicting interpretations of pathogenicity|uncertain significance | 19 | 19194146 | 19194146 | Human | 1 | name |
| 597835481 | CV3760962 | single nucleotide variant | NM_003721.4(RFXANK):c.187+15C>G | MHC class II deficiency [RCV005085513] | likely benign | 19 | 19194148 | 19194148 | Human | 1 | name |
| 597965629 | CV3793801 | single nucleotide variant | NM_003721.4(RFXANK):c.564+17C>T | MHC class II deficiency [RCV005140183] | likely benign | 19 | 19198249 | 19198249 | Human | 1 | name |
| 597905543 | CV3803933 | single nucleotide variant | NM_003721.4(RFXANK):c.271+15G>A | MHC class II deficiency [RCV005153478] | likely benign | 19 | 19197061 | 19197061 | Human | 1 | name |
| 597957475 | CV3814367 | single nucleotide variant | NM_003721.4(RFXANK):c.439-17C>A | MHC class II deficiency [RCV005162698] | likely benign | 19 | 19198090 | 19198090 | Human | 1 | name |
| 597950242 | CV3818946 | single nucleotide variant | NM_003721.4(RFXANK):c.438+12C>T | MHC class II deficiency [RCV005161016] | likely benign | 19 | 19197633 | 19197633 | Human | 1 | name |
| 14699066 | CV624817 | single nucleotide variant | NM_003721.4(RFXANK):c.338-13C>G | MHC class II deficiency [RCV001122153]|not provided [RCV000788268] | conflicting interpretations of pathogenicity|uncertain significance | 19 | 19197508 | 19197508 | Human | 1 | name |
| 21069780 | CV789386 | single nucleotide variant | NM_003721.4(RFXANK):c.188-11C>T | MHC class II deficiency [RCV000985221]|not provided [RCV002225772] | benign|likely benign|uncertain significance | 19 | 19196952 | 19196952 | Human | 1 | name |
| 127330955 | CV880726 | single nucleotide variant | NM_003721.4(RFXANK):c.439-13C>T | MHC class II deficiency [RCV001511915]|not provided [RCV004717782] | benign | 19 | 19198094 | 19198094 | Human | 1 | name |
| 597959011 | CV3752006 | microsatellite | NM_003721.4(RFXANK):c.337+10CA[6] | MHC class II deficiency [RCV005081136] | likely benign | 19 | 19197260 | 19197261 | Human | | name |
| 151783211 | CV1432740 | deletion | NM_003721.4(RFXANK):c.338-25_338del | MHC class II deficiency 1 [RCV004558747]|MHC class II deficiency 2 [RCV004577006]|MHC class II deficiency [RCV001972273]|not provided [RCV005412330] | pathogenic | 19 | 19197496 | 19197521 | Human | 3 | name |
| 14707618 | CV653023 | deletion | NM_003721.4(RFXANK):c.419_438+38del | MHC class II deficiency 2 [RCV004576969]|MHC class II deficiency [RCV000796674]|RFXANK-related disorder [RCV003411751] | pathogenic|likely pathogenic | 19 | 19197599 | 19197656 | Human | 4 | name , trait , alternate_id |
| 127254353 | CV1056557 | deletion | NM_003721.4(RFXANK):c.337+2_337+3del | MHC class II deficiency 2 [RCV005023128]|MHC class II deficiency [RCV001379137] | likely pathogenic | 19 | 19197252 | 19197253 | Human | 2 | name |
| 150546580 | CV1313810 | indel | NM_003721.4(RFXANK):c.271+1delinsCAC | MHC class II deficiency [RCV001784910] | pathogenic | 19 | 19197047 | 19197047 | Human | | name |
| 152172126 | CV1575734 | microsatellite | NM_003721.4(RFXANK):c.439-11_439-9del | MHC class II deficiency [RCV002183738] | likely benign | 19 | 19198091 | 19198093 | Human | | name |
| 41408175 | CV980963 | indel | NM_003721.4(RFXANK):c.271+1delinsTCAC | MHC class II deficiency [RCV001283767] | pathogenic | 19 | 19197047 | 19197047 | Human | | name |
| 151739346 | CV1454791 | single nucleotide variant | NM_003721.4(RFXANK):c.39C>A (p.Thr13=) | MHC class II deficiency [RCV001946945] | likely benign | 19 | 19193985 | 19193985 | Human | 1 | name |
| 152066257 | CV1556981 | microsatellite | NM_003721.4(RFXANK):c.632-15_632-11del | MHC class II deficiency [RCV002191209] | likely benign | 19 | 19199134 | 19199138 | Human | | name |
| 152164071 | CV1560428 | deletion | NM_003721.4(RFXANK):c.337+17_337+18del | MHC class II deficiency [RCV002160173] | likely benign | 19 | 19197268 | 19197269 | Human | 1 | name |
| 152170632 | CV1578298 | microsatellite | NM_003721.4(RFXANK):c.712+20_712+21del | MHC class II deficiency [RCV002183221] | likely benign | 19 | 19199252 | 19199253 | Human | | name |
| 156321666 | CV1873191 | single nucleotide variant | NM_003721.4(RFXANK):c.51T>A (p.Pro17=) | MHC class II deficiency [RCV003063110] | likely benign | 19 | 19193997 | 19193997 | Human | 1 | name |
| 156307779 | CV2115697 | single nucleotide variant | NM_003721.4(RFXANK):c.81C>T (p.Pro27=) | MHC class II deficiency [RCV002922903] | likely benign | 19 | 19194027 | 19194027 | Human | 1 | name |
| 405159252 | CV3074435 | single nucleotide variant | NM_003721.4(RFXANK):c.51T>C (p.Pro17=) | MHC class II deficiency [RCV003637480] | likely benign | 19 | 19193997 | 19193997 | Human | 1 | name |
| 127240843 | CV1084532 | single nucleotide variant | NM_003721.4(RFXANK):c.216T>G (p.Thr72=) | MHC class II deficiency [RCV001415627] | likely benign | 19 | 19196991 | 19196991 | Human | 1 | name |
| 127243945 | CV1106304 | single nucleotide variant | NM_003721.4(RFXANK):c.228G>T (p.Arg76=) | MHC class II deficiency [RCV001424038] | likely benign | 19 | 19197003 | 19197003 | Human | 1 | name |
| 152174958 | CV1520577 | single nucleotide variant | NM_003721.4(RFXANK):c.291C>T (p.Leu97=) | MHC class II deficiency [RCV002184688] | likely benign | 19 | 19197205 | 19197205 | Human | 1 | name |
| 156101212 | CV2001087 | single nucleotide variant | NM_003721.4(RFXANK):c.183A>G (p.Pro61=) | MHC class II deficiency [RCV002639588] | likely benign | 19 | 19194129 | 19194129 | Human | 1 | name |
| 156014503 | CV2036103 | single nucleotide variant | NM_003721.4(RFXANK):c.25G>A (p.Asp9Asn) | MHC class II deficiency [RCV002756868] | uncertain significance | 19 | 19193971 | 19193971 | Human | 1 | name |
| 405155955 | CV2977973 | single nucleotide variant | NM_003721.4(RFXANK):c.108C>T (p.Asp36=) | MHC class II deficiency [RCV003637211] | likely benign | 19 | 19194054 | 19194054 | Human | 1 | name |
| 405045315 | CV3150280 | single nucleotide variant | NM_003721.4(RFXANK):c.117C>T (p.Val39=) | MHC class II deficiency [RCV003849074] | likely benign | 19 | 19194063 | 19194063 | Human | 1 | name |
| 11625105 | CV332953 | single nucleotide variant | NM_003721.4(RFXANK):c.213C>T (p.Thr71=) | MHC class II deficiency [RCV000394702]|not specified [RCV000454492] | benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 19196988 | 19196988 | Human | 1 | name |
| 11618217 | CV332954 | single nucleotide variant | NM_003721.4(RFXANK):c.240C>T (p.Asn80=) | MHC class II deficiency [RCV000311507] | conflicting interpretations of pathogenicity|uncertain significance | 19 | 19197015 | 19197015 | Human | 1 | name |
| 597952465 | CV3815786 | single nucleotide variant | NM_003721.4(RFXANK):c.199C>T (p.Leu67=) | MHC class II deficiency [RCV005161539] | likely benign | 19 | 19196974 | 19196974 | Human | 1 | name |
| 597901350 | CV3845432 | single nucleotide variant | NM_003721.4(RFXANK):c.258G>A (p.Pro86=) | MHC class II deficiency [RCV005181242] | likely benign | 19 | 19197033 | 19197033 | Human | 1 | name |
| 13821194 | CV574922 | insertion | NM_003721.4(RFXANK):c.271_271+1insCTGCC | MHC class II deficiency [RCV000695542] | pathogenic | 19 | 19197046 | 19197047 | Human | 1 | name |
| 15165170 | CV756855 | single nucleotide variant | NM_003721.4(RFXANK):c.258G>C (p.Pro86=) | MHC class II deficiency [RCV001487124] | likely benign | 19 | 19197033 | 19197033 | Human | 1 | name |
| 15132362 | CV772538 | single nucleotide variant | NM_003721.4(RFXANK):c.132C>T (p.Pro44=) | MHC class II deficiency [RCV000942385] | likely benign | 19 | 19194078 | 19194078 | Human | 1 | name |
| 126755643 | CV998473 | single nucleotide variant | NM_003721.4(RFXANK):c.162G>A (p.Pro54=) | MHC class II deficiency [RCV001307910] | likely benign|uncertain significance | 19 | 19194108 | 19194108 | Human | 1 | name |
| 126759294 | CV1013624 | single nucleotide variant | NM_003721.4(RFXANK):c.64G>C (p.Gly22Arg) | MHC class II deficiency [RCV001318024] | uncertain significance | 19 | 19194010 | 19194010 | Human | 1 | name |
| 127274545 | CV1106305 | single nucleotide variant | NM_003721.4(RFXANK):c.363C>T (p.Asp121=) | MHC class II deficiency [RCV001431986] | likely benign | 19 | 19197546 | 19197546 | Human | 1 | name |
| 127265162 | CV1106306 | single nucleotide variant | NM_003721.4(RFXANK):c.678G>A (p.Pro226=) | MHC class II deficiency [RCV001429006] | likely benign | 19 | 19199200 | 19199200 | Human | 1 | name |
| 127289071 | CV1127709 | single nucleotide variant | NM_003721.4(RFXANK):c.444C>T (p.Ala148=) | MHC class II deficiency [RCV001450768] | likely benign | 19 | 19198112 | 19198112 | Human | 1 | name |
| 127298650 | CV1127710 | single nucleotide variant | NM_003721.4(RFXANK):c.453C>T (p.His151=) | MHC class II deficiency [RCV001477958] | likely benign | 19 | 19198121 | 19198121 | Human | 1 | name |
| 127325685 | CV1127712 | single nucleotide variant | NM_003721.4(RFXANK):c.690C>T (p.Ala230=) | MHC class II deficiency [RCV001468576] | likely benign | 19 | 19199212 | 19199212 | Human | 1 | name |
| 151863224 | CV1374353 | single nucleotide variant | NM_003721.4(RFXANK):c.501C>T (p.Gly167=) | MHC class II deficiency [RCV001884203] | likely benign|uncertain significance | 19 | 19198169 | 19198169 | Human | 1 | name |
| 151879026 | CV1412547 | single nucleotide variant | NM_003721.4(RFXANK):c.62T>C (p.Leu21Pro) | MHC class II deficiency [RCV001926195]|not provided [RCV004693968] | uncertain significance | 19 | 19194008 | 19194008 | Human | 1 | name |
| 151842895 | CV1438432 | single nucleotide variant | NM_003721.4(RFXANK):c.82G>A (p.Gly28Arg) | Inborn genetic diseases [RCV004044235]|MHC class II deficiency [RCV001921746] | likely benign|uncertain significance | 19 | 19194028 | 19194028 | Human | 2 | name |
| 151859988 | CV1452200 | single nucleotide variant | NM_003721.4(RFXANK):c.31A>T (p.Ile11Phe) | MHC class II deficiency [RCV002017638] | uncertain significance | 19 | 19193977 | 19193977 | Human | 1 | name |
| 151725563 | CV1455713 | single nucleotide variant | NM_003721.4(RFXANK):c.28C>G (p.Leu10Val) | MHC class II deficiency [RCV002020734] | uncertain significance | 19 | 19193974 | 19193974 | Human | 1 | name |
| 151889133 | CV1468575 | single nucleotide variant | NM_003721.4(RFXANK):c.639C>T (p.Gly213=) | MHC class II deficiency [RCV002001228]|not provided [RCV002508976] | likely benign|uncertain significance|not provided | 19 | 19199161 | 19199161 | Human | 1 | name |
| 151711972 | CV1474397 | single nucleotide variant | NM_003721.4(RFXANK):c.47C>T (p.Thr16Ile) | Inborn genetic diseases [RCV004671496]|MHC class II deficiency [RCV001908200] | uncertain significance | 19 | 19193993 | 19193993 | Human | 2 | name |
| 151743429 | CV1507568 | single nucleotide variant | NM_003721.4(RFXANK):c.396C>T (p.Ser132=) | MHC class II deficiency [RCV001968373] | likely benign | 19 | 19197579 | 19197579 | Human | 1 | name |
| 152031226 | CV1548659 | single nucleotide variant | NM_003721.4(RFXANK):c.529C>T (p.Leu177=) | MHC class II deficiency [RCV002086317] | likely benign | 19 | 19198197 | 19198197 | Human | 1 | name |
| 152135193 | CV1560304 | single nucleotide variant | NM_003721.4(RFXANK):c.606C>T (p.His202=) | MHC class II deficiency [RCV002137443] | likely benign | 19 | 19198698 | 19198698 | Human | 1 | name |
| 152163508 | CV1561435 | single nucleotide variant | NM_003721.4(RFXANK):c.393C>T (p.Ala131=) | MHC class II deficiency [RCV002104241] | likely benign | 19 | 19197576 | 19197576 | Human | 1 | name |
| 152133793 | CV1582891 | single nucleotide variant | NM_003721.4(RFXANK):c.523C>T (p.Leu175=) | MHC class II deficiency [RCV002099835] | likely benign | 19 | 19198191 | 19198191 | Human | 1 | name |
| 152050319 | CV1585714 | single nucleotide variant | NM_003721.4(RFXANK):c.615C>T (p.Cys205=) | MHC class II deficiency [RCV002145607] | likely benign | 19 | 19198707 | 19198707 | Human | 1 | name |
| 152042759 | CV1619691 | single nucleotide variant | NM_003721.4(RFXANK):c.741C>G (p.Leu247=) | MHC class II deficiency [RCV002188477] | likely benign | 19 | 19201677 | 19201677 | Human | 1 | name |
| 152026235 | CV1639352 | single nucleotide variant | NM_003721.4(RFXANK):c.573G>A (p.Gly191=) | MHC class II deficiency [RCV002185085] | likely benign | 19 | 19198665 | 19198665 | Human | 1 | name |
| 152141100 | CV1660985 | single nucleotide variant | NM_003721.4(RFXANK):c.567T>C (p.Asn189=) | MHC class II deficiency [RCV002120383] | likely benign | 19 | 19198659 | 19198659 | Human | 1 | name |
| 156404283 | CV1898185 | single nucleotide variant | NM_003721.4(RFXANK):c.654C>A (p.Thr218=) | MHC class II deficiency [RCV002585370] | likely benign | 19 | 19199176 | 19199176 | Human | 1 | name |
| 156411047 | CV1966875 | single nucleotide variant | NM_003721.4(RFXANK):c.762G>T (p.Leu254=) | MHC class II deficiency [RCV002608143] | likely benign | 19 | 19201698 | 19201698 | Human | 1 | name |
| 156127637 | CV2031394 | single nucleotide variant | NM_003721.4(RFXANK):c.669C>A (p.Gly223=) | MHC class II deficiency [RCV002740443] | likely benign | 19 | 19199191 | 19199191 | Human | 1 | name |
| 156284823 | CV2050122 | single nucleotide variant | NM_003721.4(RFXANK):c.600G>T (p.Gly200=) | MHC class II deficiency [RCV002807114] | likely benign | 19 | 19198692 | 19198692 | Human | 1 | name |
| 155982617 | CV2078626 | single nucleotide variant | NM_003721.4(RFXANK):c.585G>A (p.Leu195=) | MHC class II deficiency [RCV002863842] | likely benign | 19 | 19198677 | 19198677 | Human | 1 | name |
| 156216091 | CV2084466 | single nucleotide variant | NM_003721.4(RFXANK):c.759C>T (p.Asn253=) | MHC class II deficiency [RCV002853023] | likely benign | 19 | 19201695 | 19201695 | Human | 1 | name |
| 156369473 | CV2109615 | single nucleotide variant | NM_003721.4(RFXANK):c.588C>T (p.Tyr196=) | MHC class II deficiency [RCV002942212] | likely benign | 19 | 19198680 | 19198680 | Human | 1 | name |
| 156299152 | CV2119399 | single nucleotide variant | NM_003721.4(RFXANK):c.399C>T (p.Ala133=) | MHC class II deficiency [RCV002962059] | likely benign | 19 | 19197582 | 19197582 | Human | 1 | name |
| 155996709 | CV2168739 | single nucleotide variant | NM_003721.4(RFXANK):c.77A>G (p.Asp26Gly) | MHC class II deficiency [RCV003017087] | uncertain significance | 19 | 19194023 | 19194023 | Human | 1 | name |
| 156120951 | CV2183305 | single nucleotide variant | NM_003721.4(RFXANK):c.642T>C (p.Ala214=) | MHC class II deficiency [RCV003039312] | likely benign | 19 | 19199164 | 19199164 | Human | 1 | name |
| 404991639 | CV2890252 | single nucleotide variant | NM_003721.4(RFXANK):c.675C>A (p.Thr225=) | MHC class II deficiency [RCV003525124] | likely benign | 19 | 19199197 | 19199197 | Human | 1 | name |
| 405151850 | CV2952254 | single nucleotide variant | NM_003721.4(RFXANK):c.522G>A (p.Gly174=) | MHC class II deficiency [RCV003636888] | likely benign | 19 | 19198190 | 19198190 | Human | 1 | name |
| 405155620 | CV2981302 | single nucleotide variant | NM_003721.4(RFXANK):c.516T>C (p.Ile172=) | MHC class II deficiency [RCV003637181] | likely benign | 19 | 19198184 | 19198184 | Human | 1 | name |
| 405157096 | CV2986648 | single nucleotide variant | NM_003721.4(RFXANK):c.648C>T (p.Leu216=) | MHC class II deficiency [RCV003637306] | likely benign | 19 | 19199170 | 19199170 | Human | 1 | name |
| 405166354 | CV3007676 | single nucleotide variant | NM_003721.4(RFXANK):c.561T>C (p.Asp187=) | MHC class II deficiency [RCV003638096] | likely benign | 19 | 19198229 | 19198229 | Human | 1 | name |
| 405140008 | CV3036820 | single nucleotide variant | NM_003721.4(RFXANK):c.378C>A (p.Thr126=) | MHC class II deficiency [RCV003635740] | likely benign | 19 | 19197561 | 19197561 | Human | 1 | name |
| 405141526 | CV3044274 | single nucleotide variant | NM_003721.4(RFXANK):c.537T>C (p.Arg179=) | MHC class II deficiency [RCV003635889] | likely benign | 19 | 19198205 | 19198205 | Human | 1 | name |
| 405146307 | CV3047870 | single nucleotide variant | NM_003721.4(RFXANK):c.702A>T (p.Gly234=) | MHC class II deficiency [RCV003636403] | likely benign | 19 | 19199224 | 19199224 | Human | 1 | name |
| 405147293 | CV3055537 | single nucleotide variant | NM_003721.4(RFXANK):c.339T>C (p.Gly113=) | MHC class II deficiency [RCV003636487] | likely benign | 19 | 19197522 | 19197522 | Human | 1 | name |
| 405150298 | CV3062392 | single nucleotide variant | NM_003721.4(RFXANK):c.597C>T (p.Arg199=) | MHC class II deficiency [RCV003636761] | likely benign | 19 | 19198689 | 19198689 | Human | 1 | name |
| 405159262 | CV3074436 | single nucleotide variant | NM_003721.4(RFXANK):c.628C>T (p.Leu210=) | MHC class II deficiency [RCV003637481] | likely benign | 19 | 19198720 | 19198720 | Human | 1 | name |
| 405150827 | CV3078174 | single nucleotide variant | NM_003721.4(RFXANK):c.381C>T (p.Pro127=) | MHC class II deficiency [RCV003636804] | likely benign | 19 | 19197564 | 19197564 | Human | 1 | name |
| 405660596 | CV3312782 | single nucleotide variant | NM_003721.4(RFXANK):c.59A>G (p.Glu20Gly) | Inborn genetic diseases [RCV004438910] | uncertain significance | 19 | 19194005 | 19194005 | Human | 1 | name |
| 405660607 | CV3312784 | single nucleotide variant | NM_003721.4(RFXANK):c.89A>G (p.Glu30Gly) | Inborn genetic diseases [RCV004438912] | uncertain significance | 19 | 19194035 | 19194035 | Human | 1 | name |
| 405854111 | CV3395862 | deletion | NM_003721.4(RFXANK):c.163del (p.Asp55fs) | MHC class II deficiency 2 [RCV004577052] | pathogenic | 19 | 19194108 | 19194108 | Human | 1 | name |
| 11628591 | CV349587 | single nucleotide variant | NM_003721.4(RFXANK):c.765G>A (p.Val255=) | MHC class II deficiency [RCV000305379] | benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 19201701 | 19201701 | Human | 1 | name |
| 408394188 | CV3521778 | deletion | NM_003721.4(RFXANK):c.8_11del (p.Leu3fs) | MHC class II deficiency 1 [RCV004764577] | likely pathogenic | 19 | 19193953 | 19193956 | Human | 1 | name |
| 597647561 | CV3709392 | deletion | NM_003721.4(RFXANK):c.140del (p.Pro47fs) | MHC class II deficiency 2 [RCV005026438] | likely pathogenic | 19 | 19194083 | 19194083 | Human | 1 | name |
| 597874494 | CV3766152 | single nucleotide variant | NM_003721.4(RFXANK):c.369C>T (p.Arg123=) | MHC class II deficiency [RCV005108284] | likely benign | 19 | 19197552 | 19197552 | Human | 1 | name |
| 597899002 | CV3770748 | single nucleotide variant | NM_003721.4(RFXANK):c.477C>T (p.Ser159=) | MHC class II deficiency [RCV005111899] | likely benign | 19 | 19198145 | 19198145 | Human | 1 | name |
| 597925131 | CV3778145 | single nucleotide variant | NM_003721.4(RFXANK):c.552C>T (p.Asn184=) | MHC class II deficiency [RCV005130869] | likely benign | 19 | 19198220 | 19198220 | Human | 1 | name |
| 597967742 | CV3794592 | single nucleotide variant | NM_003721.4(RFXANK):c.660C>G (p.Ala220=) | MHC class II deficiency [RCV005140768] | likely benign | 19 | 19199182 | 19199182 | Human | 1 | name |
| 597968451 | CV3795015 | single nucleotide variant | NM_003721.4(RFXANK):c.675C>T (p.Thr225=) | MHC class II deficiency [RCV005140983] | likely benign | 19 | 19199197 | 19199197 | Human | 1 | name |
| 597961668 | CV3795220 | single nucleotide variant | NM_003721.4(RFXANK):c.384C>T (p.Leu128=) | MHC class II deficiency [RCV005138912] | likely benign | 19 | 19197567 | 19197567 | Human | 1 | name |
| 597867218 | CV3838661 | single nucleotide variant | NM_003721.4(RFXANK):c.498A>G (p.Thr166=) | MHC class II deficiency [RCV005175957] | likely benign | 19 | 19198166 | 19198166 | Human | 1 | name |
| 13620998 | CV533238 | single nucleotide variant | NM_003721.4(RFXANK):c.95C>T (p.Ala32Val) | MHC class II deficiency [RCV000647950] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 19194041 | 19194041 | Human | 1 | name |
| 13621001 | CV533242 | single nucleotide variant | NM_003721.4(RFXANK):c.654C>T (p.Thr218=) | MHC class II deficiency [RCV000647952] | likely benign | 19 | 19199176 | 19199176 | Human | 1 | name |
| 13620999 | CV533246 | single nucleotide variant | NM_003721.4(RFXANK):c.708G>T (p.Arg236=) | MHC class II deficiency [RCV000647951] | likely benign | 19 | 19199230 | 19199230 | Human | 1 | name |
| 13822224 | CV574923 | single nucleotide variant | NM_003721.4(RFXANK):c.612A>G (p.Lys204=) | MHC class II deficiency [RCV000697018] | likely benign|uncertain significance | 19 | 19198704 | 19198704 | Human | 1 | name |
| 14717806 | CV647860 | single nucleotide variant | NM_003721.4(RFXANK):c.49C>G (p.Pro17Ala) | MHC class II deficiency [RCV000809067] | uncertain significance | 19 | 19193995 | 19193995 | Human | 1 | name |
| 15124097 | CV756856 | single nucleotide variant | NM_003721.4(RFXANK):c.417C>T (p.Thr139=) | MHC class II deficiency [RCV001480498] | likely benign | 19 | 19197600 | 19197600 | Human | 1 | name |
| 15203296 | CV756857 | single nucleotide variant | NM_003721.4(RFXANK):c.591T>C (p.Ala197=) | MHC class II deficiency [RCV001462189] | likely benign | 19 | 19198683 | 19198683 | Human | 1 | name |
| 15141678 | CV772539 | single nucleotide variant | NM_003721.4(RFXANK):c.339T>G (p.Gly113=) | MHC class II deficiency [RCV001491023] | likely benign | 19 | 19197522 | 19197522 | Human | 1 | name |
| 15142912 | CV772540 | single nucleotide variant | NM_003721.4(RFXANK):c.501C>A (p.Gly167=) | MHC class II deficiency [RCV000944157] | likely benign|conflicting interpretations of pathogenicity | 19 | 19198169 | 19198169 | Human | 1 | name |
| 28901720 | CV880210 | single nucleotide variant | NM_003721.4(RFXANK):c.540C>T (p.Asp180=) | MHC class II deficiency [RCV001124924] | conflicting interpretations of pathogenicity|uncertain significance | 19 | 19198208 | 19198208 | Human | 1 | name |
| 28903992 | CV880211 | single nucleotide variant | NM_003721.4(RFXANK):c.660C>T (p.Ala220=) | MHC class II deficiency [RCV001125897] | conflicting interpretations of pathogenicity|uncertain significance | 19 | 19199182 | 19199182 | Human | 1 | name |
| 38473341 | CV950725 | single nucleotide variant | NM_003721.4(RFXANK):c.37A>T (p.Thr13Ser) | MHC class II deficiency [RCV001231805] | uncertain significance | 19 | 19193983 | 19193983 | Human | 1 | name |
| 38500038 | CV958582 | single nucleotide variant | NM_003721.4(RFXANK):c.47C>A (p.Thr16Asn) | MHC class II deficiency [RCV001245444] | uncertain significance | 19 | 19193993 | 19193993 | Human | 1 | name |
| 126917037 | CV1051178 | single nucleotide variant | NM_003721.4(RFXANK):c.112G>A (p.Val38Met) | Inborn genetic diseases [RCV004036784]|MHC class II deficiency [RCV001360932] | uncertain significance | 19 | 19194058 | 19194058 | Human | 2 | name |
| 127253120 | CV1064684 | deletion | NM_003721.4(RFXANK):c.383del (p.Leu128fs) | MHC class II deficiency [RCV001385858] | pathogenic | 19 | 19197566 | 19197566 | Human | 1 | name |
| 151808260 | CV1337211 | single nucleotide variant | NM_003721.4(RFXANK):c.285C>G (p.His95Gln) | MHC class II deficiency [RCV002028721] | uncertain significance | 19 | 19197199 | 19197199 | Human | 1 | name |
| 151709961 | CV1361110 | single nucleotide variant | NM_003721.4(RFXANK):c.175T>G (p.Ser59Ala) | MHC class II deficiency [RCV001889162] | uncertain significance | 19 | 19194121 | 19194121 | Human | 1 | name |
| 152979405 | CV1675542 | deletion | NM_003721.4(RFXANK):c.481del (p.Leu161fs) | MHC class II deficiency [RCV002244132] | pathogenic|likely pathogenic | 19 | 19198147 | 19198147 | Human | 1 | name |
| 156061256 | CV1892384 | deletion | NM_003721.4(RFXANK):c.600del (p.Asn201fs) | MHC class II deficiency [RCV003079232] | pathogenic | 19 | 19198690 | 19198690 | Human | 1 | name |
| 156258045 | CV2113536 | single nucleotide variant | NM_003721.4(RFXANK):c.148G>A (p.Val50Met) | MHC class II deficiency [RCV002933781] | uncertain significance | 19 | 19194094 | 19194094 | Human | 1 | name |
| 156083746 | CV2184339 | single nucleotide variant | NM_003721.4(RFXANK):c.280A>G (p.Ile94Val) | MHC class II deficiency [RCV003054120] | benign | 19 | 19197194 | 19197194 | Human | 1 | name |
| 405077569 | CV2875053 | single nucleotide variant | NM_003721.4(RFXANK):c.169A>G (p.Ser57Gly) | MHC class II deficiency [RCV003524276] | uncertain significance | 19 | 19194115 | 19194115 | Human | 1 | name |
| 405660591 | CV3312780 | single nucleotide variant | NM_003721.4(RFXANK):c.128T>C (p.Phe43Ser) | Inborn genetic diseases [RCV004438908] | uncertain significance | 19 | 19194074 | 19194074 | Human | 1 | name |
| 405660593 | CV3312781 | single nucleotide variant | NM_003721.4(RFXANK):c.161C>T (p.Pro54Leu) | Inborn genetic diseases [RCV004438909] | uncertain significance | 19 | 19194107 | 19194107 | Human | 1 | name |
| 11616604 | CV343100 | single nucleotide variant | NM_003721.4(RFXANK):c.144G>C (p.Glu48Asp) | MHC class II deficiency [RCV000296111]|not provided [RCV004703773]|not specified [RCV000455607] | benign|likely benign | 19 | 19194090 | 19194090 | Human | 1 | name |
| 597718145 | CV3589967 | single nucleotide variant | NM_003721.4(RFXANK):c.140C>G (p.Pro47Arg) | Inborn genetic diseases [RCV004960090] | uncertain significance | 19 | 19194086 | 19194086 | Human | 1 | name |
| 13808882 | CV572306 | single nucleotide variant | NM_003721.4(RFXANK):c.187G>A (p.Ala63Thr) | MHC class II deficiency 1 [RCV004813132]|MHC class II deficiency [RCV000687490]|not provided [RCV001724137] | uncertain significance | 19 | 19194133 | 19194133 | Human | 2 | name |
| 14714253 | CV647861 | single nucleotide variant | NM_003721.4(RFXANK):c.226C>T (p.Arg76Trp) | MHC class II deficiency [RCV000795958] | uncertain significance | 19 | 19197001 | 19197001 | Human | 1 | name |
| 14717810 | CV647862 | single nucleotide variant | NM_003721.4(RFXANK):c.233G>A (p.Arg78Gln) | MHC class II deficiency [RCV000809077] | uncertain significance | 19 | 19197008 | 19197008 | Human | 1 | name |
| 14701514 | CV647863 | single nucleotide variant | NM_003721.4(RFXANK):c.241G>A (p.Glu81Lys) | MHC class II deficiency [RCV000817083] | uncertain significance | 19 | 19197016 | 19197016 | Human | 1 | name |
| 26889324 | CV847460 | single nucleotide variant | NM_003721.4(RFXANK):c.155C>T (p.Pro52Leu) | MHC class II deficiency [RCV001063412] | uncertain significance | 19 | 19194101 | 19194101 | Human | 1 | name |
| 26887730 | CV847461 | single nucleotide variant | NM_003721.4(RFXANK):c.191G>T (p.Gly64Val) | MHC class II deficiency [RCV001036682] | uncertain significance | 19 | 19196966 | 19196966 | Human | 1 | name |
| 26888559 | CV847462 | single nucleotide variant | NM_003721.4(RFXANK):c.232C>T (p.Arg78Ter) | MHC class II deficiency 2 [RCV005029619]|MHC class II deficiency [RCV001051631] | pathogenic|likely pathogenic | 19 | 19197007 | 19197007 | Human | 2 | name |
| 26888303 | CV847463 | single nucleotide variant | NM_003721.4(RFXANK):c.257C>T (p.Pro86Leu) | MHC class II deficiency [RCV001047533]|not provided [RCV002264999] | uncertain significance | 19 | 19197032 | 19197032 | Human | 1 | name |
| 26888344 | CV847464 | single nucleotide variant | NM_003721.4(RFXANK):c.292G>A (p.Ala98Thr) | MHC class II deficiency [RCV001048003] | uncertain significance | 19 | 19197206 | 19197206 | Human | 1 | name |
| 28907973 | CV880205 | single nucleotide variant | NM_003721.4(RFXANK):c.179C>T (p.Ser60Phe) | Inborn genetic diseases [RCV002556795]|MHC class II deficiency [RCV001127910] | uncertain significance | 19 | 19194125 | 19194125 | Human | 2 | name |
| 38479338 | CV928903 | single nucleotide variant | NM_003721.4(RFXANK):c.287A>G (p.Gln96Arg) | MHC class II deficiency [RCV001217027] | uncertain significance | 19 | 19197201 | 19197201 | Human | 1 | name |
| 38598199 | CV964519 | deletion | NM_003721.4(RFXANK):c.460del (p.Ala154fs) | MHC class II deficiency [RCV001253463] | likely pathogenic | 19 | 19198127 | 19198127 | Human | 1 | name |
| 126762817 | CV1013625 | single nucleotide variant | NM_003721.4(RFXANK):c.551A>G (p.Asn184Ser) | MHC class II deficiency [RCV001319047] | uncertain significance | 19 | 19198219 | 19198219 | Human | 1 | name |
| 126750214 | CV1013626 | single nucleotide variant | NM_003721.4(RFXANK):c.677C>T (p.Pro226Leu) | MHC class II deficiency [RCV001315875] | uncertain significance | 19 | 19199199 | 19199199 | Human | 1 | name |
| 126758533 | CV1013627 | single nucleotide variant | NM_003721.4(RFXANK):c.701G>A (p.Gly234Glu) | MHC class II deficiency [RCV001317805] | uncertain significance | 19 | 19199223 | 19199223 | Human | 1 | name |
| 126767848 | CV1013628 | single nucleotide variant | NM_003721.4(RFXANK):c.721G>T (p.Val241Leu) | MHC class II deficiency [RCV001321015] | uncertain significance | 19 | 19201657 | 19201657 | Human | 1 | name |
| 126761816 | CV1034179 | single nucleotide variant | NM_003721.4(RFXANK):c.524T>C (p.Leu175Pro) | MHC class II deficiency [RCV001340797] | uncertain significance | 19 | 19198192 | 19198192 | Human | 1 | name |
| 126919526 | CV1051179 | single nucleotide variant | NM_003721.4(RFXANK):c.400T>C (p.Phe134Leu) | MHC class II deficiency [RCV001373281] | uncertain significance | 19 | 19197583 | 19197583 | Human | 1 | name |
| 126919024 | CV1051180 | single nucleotide variant | NM_003721.4(RFXANK):c.449C>G (p.Pro150Arg) | MHC class II deficiency [RCV001362059] | uncertain significance | 19 | 19198117 | 19198117 | Human | 1 | name |
| 127264077 | CV1064685 | single nucleotide variant | NM_003721.4(RFXANK):c.634C>T (p.Arg212Ter) | MHC class II deficiency 2 [RCV004576989]|MHC class II deficiency [RCV001388116] | pathogenic | 19 | 19199156 | 19199156 | Human | 2 | name |
| 151753691 | CV1342506 | single nucleotide variant | NM_003721.4(RFXANK):c.436T>G (p.Trp146Gly) | MHC class II deficiency [RCV001986544] | uncertain significance | 19 | 19197619 | 19197619 | Human | 1 | name |
| 151818673 | CV1397556 | single nucleotide variant | NM_003721.4(RFXANK):c.305A>T (p.Glu102Val) | MHC class II deficiency [RCV001992551] | uncertain significance | 19 | 19197219 | 19197219 | Human | 1 | name |
| 151892780 | CV1398998 | single nucleotide variant | NM_003721.4(RFXANK):c.532G>T (p.Glu178Ter) | MHC class II deficiency [RCV001944477] | pathogenic | 19 | 19198200 | 19198200 | Human | 1 | name |
| 151769714 | CV1410695 | single nucleotide variant | NM_003721.4(RFXANK):c.661G>A (p.Asp221Asn) | MHC class II deficiency [RCV001971060] | uncertain significance | 19 | 19199183 | 19199183 | Human | 1 | name |
| 151722971 | CV1414081 | single nucleotide variant | NM_003721.4(RFXANK):c.629T>C (p.Leu210Pro) | MHC class II deficiency [RCV002020437] | uncertain significance | 19 | 19198721 | 19198721 | Human | 1 | name |
| 151830703 | CV1426489 | single nucleotide variant | NM_003721.4(RFXANK):c.368G>A (p.Arg123His) | MHC class II deficiency [RCV001976622] | uncertain significance | 19 | 19197551 | 19197551 | Human | 1 | name |
| 151743474 | CV1431753 | single nucleotide variant | NM_003721.4(RFXANK):c.589G>A (p.Ala197Thr) | MHC class II deficiency [RCV001926700] | uncertain significance | 19 | 19198681 | 19198681 | Human | 1 | name |
| 151805966 | CV1453359 | single nucleotide variant | NM_003721.4(RFXANK):c.485C>T (p.Ser162Leu) | MHC class II deficiency [RCV001877802] | uncertain significance | 19 | 19198153 | 19198153 | Human | 1 | name |
| 151875236 | CV1459850 | single nucleotide variant | NM_003721.4(RFXANK):c.596G>A (p.Arg199His) | MHC class II deficiency [RCV002036174] | uncertain significance | 19 | 19198688 | 19198688 | Human | 1 | name |
| 151871951 | CV1487792 | single nucleotide variant | NM_003721.4(RFXANK):c.370G>A (p.Gly124Ser) | MHC class II deficiency [RCV001981415] | uncertain significance | 19 | 19197553 | 19197553 | Human | 1 | name |
| 151766845 | CV1492800 | single nucleotide variant | NM_003721.4(RFXANK):c.367C>T (p.Arg123Cys) | MHC class II deficiency [RCV001914593] | uncertain significance | 19 | 19197550 | 19197550 | Human | 1 | name |
| 155686684 | CV1777664 | single nucleotide variant | NM_003721.4(RFXANK):c.380C>G (p.Pro127Arg) | MHC class II deficiency [RCV002299043] | uncertain significance | 19 | 19197563 | 19197563 | Human | 1 | name |
| 156233263 | CV1885282 | single nucleotide variant | NM_003721.4(RFXANK):c.655G>A (p.Glu219Lys) | MHC class II deficiency [RCV003085453] | uncertain significance | 19 | 19199177 | 19199177 | Human | 1 | name |
| 156032439 | CV1889869 | single nucleotide variant | NM_003721.4(RFXANK):c.691G>A (p.Val231Met) | MHC class II deficiency [RCV003078165] | uncertain significance | 19 | 19199213 | 19199213 | Human | 1 | name |
| 156309335 | CV1928225 | single nucleotide variant | NM_003721.4(RFXANK):c.410T>C (p.Ile137Thr) | MHC class II deficiency [RCV002648063] | uncertain significance | 19 | 19197593 | 19197593 | Human | 1 | name |
| 156373481 | CV1932907 | single nucleotide variant | NM_003721.4(RFXANK):c.707G>A (p.Arg236Gln) | MHC class II deficiency [RCV002633617] | uncertain significance | 19 | 19199229 | 19199229 | Human | 1 | name |
| 156409094 | CV1954646 | single nucleotide variant | NM_003721.4(RFXANK):c.380C>A (p.Pro127His) | MHC class II deficiency [RCV002586712] | uncertain significance | 19 | 19197563 | 19197563 | Human | 1 | name |
| 156269280 | CV1957113 | single nucleotide variant | NM_003721.4(RFXANK):c.418G>A (p.Val140Ile) | MHC class II deficiency [RCV002577108] | uncertain significance | 19 | 19197601 | 19197601 | Human | 1 | name |
| 155910191 | CV1980083 | single nucleotide variant | NM_003721.4(RFXANK):c.404G>A (p.Gly135Glu) | MHC class II deficiency [RCV002613929] | uncertain significance | 19 | 19197587 | 19197587 | Human | 1 | name |
| 156168134 | CV2056699 | single nucleotide variant | NM_003721.4(RFXANK):c.575C>G (p.Thr192Arg) | MHC class II deficiency [RCV002801870] | uncertain significance | 19 | 19198667 | 19198667 | Human | 1 | name |
| 156372428 | CV2127637 | single nucleotide variant | NM_003721.4(RFXANK):c.533A>T (p.Glu178Val) | MHC class II deficiency [RCV002942442] | uncertain significance | 19 | 19198201 | 19198201 | Human | 1 | name |
| 155986939 | CV2136998 | single nucleotide variant | NM_003721.4(RFXANK):c.745C>G (p.Leu249Val) | Inborn genetic diseases [RCV003269388]|MHC class II deficiency [RCV002996377] | uncertain significance | 19 | 19201681 | 19201681 | Human | 2 | name |
| 8597188 | CV21639 | single nucleotide variant | NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) | MHC class II deficiency 2 [RCV004576880]|MHC class II deficiency [RCV000985115]|not provided [RCV000788451] | pathogenic|likely pathogenic | 19 | 19197545 | 19197545 | Human | 2 | name |
| 156333860 | CV2172078 | single nucleotide variant | NM_003721.4(RFXANK):c.604C>T (p.His202Tyr) | MHC class II deficiency [RCV003029917] | uncertain significance | 19 | 19198696 | 19198696 | Human | 1 | name |
| 156337225 | CV2228660 | single nucleotide variant | NM_003721.4(RFXANK):c.652A>C (p.Thr218Pro) | Inborn genetic diseases [RCV002718694] | uncertain significance | 19 | 19199174 | 19199174 | Human | 1 | name |
| 156283400 | CV2230951 | single nucleotide variant | NM_003721.4(RFXANK):c.424T>G (p.Phe142Val) | Inborn genetic diseases [RCV002747245] | uncertain significance | 19 | 19197607 | 19197607 | Human | 1 | name |
| 156237536 | CV2235691 | single nucleotide variant | NM_003721.4(RFXANK):c.769G>T (p.Ala257Ser) | Inborn genetic diseases [RCV002768053] | uncertain significance | 19 | 19201705 | 19201705 | Human | 1 | name |
| 156293412 | CV2321308 | single nucleotide variant | NM_003721.4(RFXANK):c.739C>T (p.Leu247Phe) | Inborn genetic diseases [RCV002935780] | uncertain significance | 19 | 19201675 | 19201675 | Human | 1 | name |
| 156176783 | CV2327130 | single nucleotide variant | NM_003721.4(RFXANK):c.377C>G (p.Thr126Ser) | Inborn genetic diseases [RCV002930165] | uncertain significance | 19 | 19197560 | 19197560 | Human | 1 | name |
| 401727460 | CV2681036 | single nucleotide variant | NM_003721.4(RFXANK):c.607G>A (p.Val203Met) | Inborn genetic diseases [RCV003270081] | uncertain significance | 19 | 19198699 | 19198699 | Human | 1 | name |
| 405660601 | CV3312783 | single nucleotide variant | NM_003721.4(RFXANK):c.774C>G (p.Asp258Glu) | Inborn genetic diseases [RCV004438911] | uncertain significance | 19 | 19201710 | 19201710 | Human | 1 | name |
| 11621381 | CV332961 | single nucleotide variant | NM_003721.4(RFXANK):c.421C>T (p.Arg141Cys) | MHC class II deficiency [RCV000347711] | uncertain significance | 19 | 19197604 | 19197604 | Human | 1 | name |
| 11617676 | CV343102 | single nucleotide variant | NM_003721.4(RFXANK):c.635G>A (p.Arg212Gln) | MHC class II deficiency [RCV000306670] | uncertain significance | 19 | 19199157 | 19199157 | Human | 1 | name |
| 407459991 | CV3472673 | single nucleotide variant | NM_003721.4(RFXANK):c.470G>T (p.Arg157Leu) | Inborn genetic diseases [RCV004658363] | uncertain significance | 19 | 19198138 | 19198138 | Human | 1 | name |
| 11664037 | CV348457 | single nucleotide variant | NM_003721.4(RFXANK):c.514A>G (p.Ile172Val) | MHC class II deficiency [RCV000402039] | uncertain significance | 19 | 19198182 | 19198182 | Human | 1 | name |
| 11626576 | CV349586 | single nucleotide variant | NM_003721.4(RFXANK):c.751C>G (p.Gln251Glu) | MHC class II deficiency [RCV000525677]|not provided [RCV004703774] | benign|likely benign | 19 | 19201687 | 19201687 | Human | 1 | name |
| 597718138 | CV3589966 | single nucleotide variant | NM_003721.4(RFXANK):c.416C>T (p.Thr139Ile) | Inborn genetic diseases [RCV004960089] | uncertain significance | 19 | 19197599 | 19197599 | Human | 1 | name |
| 597854094 | CV3762425 | single nucleotide variant | NM_003721.4(RFXANK):c.563G>A (p.Trp188Ter) | MHC class II deficiency [RCV005088341] | pathogenic | 19 | 19198231 | 19198231 | Human | 1 | name |
| 597967883 | CV3853293 | single nucleotide variant | NM_003721.4(RFXANK):c.472G>C (p.Glu158Gln) | MHC class II deficiency [RCV005194935] | uncertain significance | 19 | 19198140 | 19198140 | Human | 1 | name |
| 598217557 | CV3905852 | single nucleotide variant | NM_003721.4(RFXANK):c.418G>C (p.Val140Leu) | Inborn genetic diseases [RCV005272025] | uncertain significance | 19 | 19197601 | 19197601 | Human | 1 | name |
| 598217563 | CV3905853 | single nucleotide variant | NM_003721.4(RFXANK):c.382C>G (p.Leu128Val) | Inborn genetic diseases [RCV005272026] | uncertain significance | 19 | 19197565 | 19197565 | Human | 1 | name |
| 598217569 | CV3905854 | single nucleotide variant | NM_003721.4(RFXANK):c.397G>A (p.Ala133Thr) | Inborn genetic diseases [RCV005272027] | uncertain significance | 19 | 19197580 | 19197580 | Human | 1 | name |
| 13620992 | CV532793 | single nucleotide variant | NM_003721.4(RFXANK):c.623C>T (p.Ala208Val) | MHC class II deficiency [RCV000647946] | uncertain significance | 19 | 19198715 | 19198715 | Human | 1 | name |
| 13620990 | CV532802 | single nucleotide variant | NM_003721.4(RFXANK):c.726C>G (p.Ile242Met) | MHC class II deficiency [RCV000647944] | uncertain significance | 19 | 19201662 | 19201662 | Human | 1 | name |
| 13621135 | CV532869 | single nucleotide variant | NM_003721.4(RFXANK):c.445G>A (p.Asp149Asn) | MHC class II deficiency [RCV000647953]|RFXANK-related disorder [RCV003945639] | likely benign|conflicting interpretations of pathogenicity | 19 | 19198113 | 19198113 | Human | 3 | name , trait , alternate_id |
| 13620986 | CV533239 | single nucleotide variant | NM_003721.4(RFXANK):c.332G>A (p.Arg111Gln) | Inborn genetic diseases [RCV002533343]|MHC class II deficiency [RCV000647941] | uncertain significance | 19 | 19197246 | 19197246 | Human | 2 | name |
| 13822138 | CV572307 | single nucleotide variant | NM_003721.4(RFXANK):c.331C>T (p.Arg111Trp) | Inborn genetic diseases [RCV002534336]|MHC class II deficiency [RCV000696897] | uncertain significance | 19 | 19197245 | 19197245 | Human | 2 | name |
| 14688217 | CV620631 | single nucleotide variant | NM_003721.4(RFXANK):c.437G>A (p.Trp146Ter) | MHC class II deficiency [RCV000779255] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 19 | 19197620 | 19197620 | Human | 1 | name |
| 14699419 | CV624657 | single nucleotide variant | NM_003721.4(RFXANK):c.558T>A (p.Tyr186Ter) | MHC class II deficiency [RCV001261595]|not provided [RCV000788774] | pathogenic|likely pathogenic | 19 | 19198226 | 19198226 | Human | 1 | name |
| 14715091 | CV647864 | single nucleotide variant | NM_003721.4(RFXANK):c.533A>C (p.Glu178Ala) | MHC class II deficiency [RCV000799276] | uncertain significance | 19 | 19198201 | 19198201 | Human | 1 | name |
| 14701821 | CV647865 | single nucleotide variant | NM_003721.4(RFXANK):c.595C>T (p.Arg199Cys) | MHC class II deficiency [RCV000819452] | uncertain significance | 19 | 19198687 | 19198687 | Human | 1 | name |
| 14717736 | CV647866 | single nucleotide variant | NM_003721.4(RFXANK):c.598G>A (p.Gly200Arg) | Inborn genetic diseases [RCV004958126]|MHC class II deficiency [RCV000808699] | uncertain significance | 19 | 19198690 | 19198690 | Human | 2 | name |
| 14716205 | CV647867 | single nucleotide variant | NM_003721.4(RFXANK):c.602A>T (p.Asn201Ile) | MHC class II deficiency [RCV000802902] | uncertain significance | 19 | 19198694 | 19198694 | Human | 1 | name |
| 14717381 | CV647868 | single nucleotide variant | NM_003721.4(RFXANK):c.766C>T (p.Pro256Ser) | MHC class II deficiency [RCV000807418] | uncertain significance | 19 | 19201702 | 19201702 | Human | 1 | name |
| 15121949 | CV741737 | single nucleotide variant | NM_003721.4(RFXANK):c.775C>T (p.Pro259Ser) | MHC class II deficiency [RCV000896156] | likely benign | 19 | 19201711 | 19201711 | Human | 1 | name |
| 15141691 | CV772541 | single nucleotide variant | NM_003721.4(RFXANK):c.529C>G (p.Leu177Val) | Inborn genetic diseases [RCV003169441]|MHC class II deficiency [RCV000943941] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 19198197 | 19198197 | Human | 2 | name |
| 21072287 | CV788925 | single nucleotide variant | NM_003721.4(RFXANK):c.477C>A (p.Ser159Arg) | MHC class II deficiency [RCV000985219] | uncertain significance | 19 | 19198145 | 19198145 | Human | 1 | name |
| 25327566 | CV815937 | single nucleotide variant | NM_003721.4(RFXANK):c.584T>C (p.Leu195Pro) | Inherited Immunodeficiency Diseases [RCV001027618]|MHC class II deficiency 2 [RCV004576980] | pathogenic|likely pathogenic | 19 | 19198676 | 19198676 | Human | 2 | name |
| 26888339 | CV847465 | single nucleotide variant | NM_003721.4(RFXANK):c.478G>A (p.Ala160Thr) | Inborn genetic diseases [RCV002553174]|MHC class II deficiency [RCV001047988] | uncertain significance | 19 | 19198146 | 19198146 | Human | 2 | name |
| 26888422 | CV847466 | single nucleotide variant | NM_003721.4(RFXANK):c.754A>G (p.Ser252Gly) | MHC class II deficiency [RCV001049272] | uncertain significance | 19 | 19201690 | 19201690 | Human | 1 | name |
| 26889295 | CV847467 | single nucleotide variant | NM_003721.4(RFXANK):c.778G>A (p.Glu260Lys) | Inborn genetic diseases [RCV003160514]|MHC class II deficiency [RCV001063031] | uncertain significance | 19 | 19201714 | 19201714 | Human | 2 | name |
| 28894569 | CV880206 | single nucleotide variant | NM_003721.4(RFXANK):c.299A>G (p.Gln100Arg) | MHC class II deficiency [RCV001122152] | uncertain significance | 19 | 19197213 | 19197213 | Human | 1 | name |
| 28894575 | CV880207 | single nucleotide variant | NM_003721.4(RFXANK):c.409A>T (p.Ile137Phe) | MHC class II deficiency [RCV001122154] | uncertain significance | 19 | 19197592 | 19197592 | Human | 1 | name |
| 28901711 | CV880208 | single nucleotide variant | NM_003721.4(RFXANK):c.535C>T (p.Arg179Cys) | MHC class II deficiency [RCV001124922] | benign|likely benign | 19 | 19198203 | 19198203 | Human | 1 | name |
| 28901716 | CV880209 | single nucleotide variant | NM_003721.4(RFXANK):c.536G>A (p.Arg179His) | MHC class II deficiency [RCV001124923] | uncertain significance | 19 | 19198204 | 19198204 | Human | 1 | name |
| 8636697 | CV91922 | single nucleotide variant | NM_003721.4(RFXANK):c.706C>T (p.Arg236Trp) | MHC class II deficiency [RCV000647945]|not provided [RCV004691745] | uncertain significance|not provided | 19 | 19199228 | 19199228 | Human | 1 | name |
| 38490996 | CV928904 | single nucleotide variant | NM_003721.4(RFXANK):c.349G>A (p.Val117Ile) | Inborn genetic diseases [RCV004960574]|MHC class II deficiency [RCV001222505] | likely benign|uncertain significance | 19 | 19197532 | 19197532 | Human | 2 | name |
| 38478074 | CV928905 | single nucleotide variant | NM_003721.4(RFXANK):c.631G>A (p.Ala211Thr) | MHC class II deficiency [RCV001216440] | uncertain significance | 19 | 19198723 | 19198723 | Human | 1 | name |
| 38490833 | CV958583 | single nucleotide variant | NM_003721.4(RFXANK):c.599G>C (p.Gly200Ala) | MHC class II deficiency [RCV001239071] | uncertain significance | 19 | 19198691 | 19198691 | Human | 1 | name |
| 126746126 | CV998474 | single nucleotide variant | NM_003721.4(RFXANK):c.606C>G (p.His202Gln) | Inborn genetic diseases [RCV002543154]|MHC class II deficiency [RCV001306065] | uncertain significance | 19 | 19198698 | 19198698 | Human | 2 | name |
| 401914855 | CV2799344 | deletion | NM_003721.4(RFXANK):c.194_198del (p.Ser65fs) | RFXANK-related disorder [RCV003400460] | likely pathogenic | 19 | 19196969 | 19196973 | Human | | name , trait , alternate_id |
| 151797607 | CV1376515 | deletion | NM_003721.4(RFXANK):c.599_600del (p.Gly200fs) | MHC class II deficiency [RCV001932009] | pathogenic | 19 | 19198690 | 19198691 | Human | 1 | name |
| 14978138 | CV677296 | deletion | NM_003721.4(RFXANK):c.454_455del (p.Ile152fs) | MHC class II deficiency 2 [RCV005029521]|MHC class II deficiency [RCV000850361] | pathogenic|likely pathogenic | 19 | 19198122 | 19198123 | Human | 2 | name |
| 405853487 | CV3392493 | indel | NM_003721.4(RFXANK):c.6delinsCTTA (p.Glu2delinsAspLeu) | MHC class II deficiency 5 [RCV004527513] | uncertain significance | 19 | 19193952 | 19193952 | Human | | name |
| 13817520 | CV574921 | deletion | NM_003721.4(RFXANK):c.266_268del (p.Leu89_Asp90delinsHis) | MHC class II deficiency [RCV000692999] | uncertain significance | 19 | 19197041 | 19197043 | Human | 1 | name |
