| 407531672 | CV3471869 | single nucleotide variant | NM_002793.4(PSMB1):c.68C>T (p.Ala23Val) | not specified [RCV004657726] | uncertain significance | 6 | 170553175 | 170553175 | Human | | name |
| 598170622 | CV3898167 | single nucleotide variant | NM_002793.4(PSMB1):c.63A>C (p.Arg21Ser) | not specified [RCV005263148] | likely benign | 6 | 170553180 | 170553180 | Human | | name |
| 156137292 | CV2210394 | single nucleotide variant | NM_002793.4(PSMB1):c.127A>G (p.Ile43Val) | not specified [RCV004089543] | uncertain significance | 6 | 170549100 | 170549100 | Human | | name |
| 155970256 | CV2213453 | single nucleotide variant | NM_002793.4(PSMB1):c.194C>T (p.Thr65Met) | not specified [RCV004087427] | uncertain significance | 6 | 170549033 | 170549033 | Human | | name |
| 156095408 | CV2253028 | single nucleotide variant | NM_002793.4(PSMB1):c.218A>G (p.Lys73Arg) | not specified [RCV004120823] | uncertain significance | 6 | 170549009 | 170549009 | Human | | name |
| 156086951 | CV2258946 | single nucleotide variant | NM_002793.4(PSMB1):c.191A>G (p.His64Arg) | not specified [RCV004120226] | uncertain significance | 6 | 170549036 | 170549036 | Human | | name |
| 156261175 | CV2381305 | single nucleotide variant | NM_002793.4(PSMB1):c.115A>G (p.Thr39Ala) | not specified [RCV004227365] | uncertain significance | 6 | 170549112 | 170549112 | Human | | name |
| 407531668 | CV3471867 | single nucleotide variant | NM_002793.4(PSMB1):c.200A>T (p.Asp67Val) | not specified [RCV004657724] | uncertain significance | 6 | 170549027 | 170549027 | Human | | name |
| 407531674 | CV3471870 | single nucleotide variant | NM_002793.4(PSMB1):c.146C>G (p.Ala49Gly) | not specified [RCV004657727] | uncertain significance | 6 | 170549081 | 170549081 | Human | | name |
| 155268571 | CV1704176 | single nucleotide variant | NM_002793.4(PSMB1):c.307T>C (p.Tyr103His) | Neurodevelopmental disorder with microcephaly, hypotonia, and absent language [RCV002284163] | pathogenic | 6 | 170543727 | 170543727 | Human | 1 | name |
| 156334900 | CV2214834 | single nucleotide variant | NM_002793.4(PSMB1):c.451A>G (p.Ser151Gly) | not specified [RCV004090627] | uncertain significance | 6 | 170537323 | 170537323 | Human | | name |
| 156077643 | CV2230299 | single nucleotide variant | NM_002793.4(PSMB1):c.308A>G (p.Tyr103Cys) | not specified [RCV004099910] | uncertain significance | 6 | 170543726 | 170543726 | Human | | name |
| 401889595 | CV2756526 | single nucleotide variant | NM_002793.4(PSMB1):c.341G>C (p.Gly114Ala) | not specified [RCV004345055] | uncertain significance | 6 | 170543693 | 170543693 | Human | | name |
| 597749774 | CV3592000 | single nucleotide variant | NM_002793.4(PSMB1):c.364A>T (p.Thr122Ser) | not specified [RCV004846296] | uncertain significance | 6 | 170543670 | 170543670 | Human | | name |
| 597749780 | CV3592001 | single nucleotide variant | NM_002793.4(PSMB1):c.709T>C (p.Ser237Pro) | not specified [RCV004846297] | likely benign | 6 | 170535237 | 170535237 | Human | | name |
| 597749785 | CV3592002 | single nucleotide variant | NM_002793.4(PSMB1):c.362C>G (p.Ser121Cys) | not specified [RCV004846298] | uncertain significance | 6 | 170543672 | 170543672 | Human | | name |
| 598170616 | CV3898166 | single nucleotide variant | NM_002793.4(PSMB1):c.529C>T (p.Leu177Phe) | not specified [RCV005263147] | uncertain significance | 6 | 170537245 | 170537245 | Human | | name |
| 598203560 | CV3896462 | single nucleotide variant | NM_002801.4(PSMB10):c.56+1G>A | Proteasome-associated autoinflammatory syndrome 5 [RCV005356702] | uncertain significance | 16 | 67936693 | 67936693 | Human | 1 | name |
| 405867669 | CV3400944 | single nucleotide variant | NM_002801.4(PSMB10):c.710+1G>C | Proteasome-associated autoinflammatory syndrome 5 [RCV004577062] | pathogenic | 16 | 67934796 | 67934796 | Human | 1 | name |
| 401919444 | CV2798364 | microsatellite | NM_002801.4(PSMB10):c.212AGA[1] (p.Lys72del) | PSMB10-related disorder [RCV003402342] | uncertain significance | 16 | 67936240 | 67936242 | Human | | name , trait , alternate_id |
| 408384434 | CV3505341 | single nucleotide variant | NM_002801.4(PSMB10):c.392G>A (p.Gly131Asp) | PSMB10-related disorder [RCV004731808] | uncertain significance | 16 | 67935689 | 67935689 | Human | | name , trait , alternate_id |
| 401903355 | CV2817589 | single nucleotide variant | NM_002801.4(PSMB10):c.9G>A (p.Lys3=) | not provided [RCV003419379] | likely benign | 16 | 67936741 | 67936741 | Human | | name |
| 598124890 | CV3885456 | single nucleotide variant | NM_002801.4(PSMB10):c.60T>C (p.Asn20=) | not specified [RCV005240034] | likely benign | 16 | 67936482 | 67936482 | Human | | name |
| 8635173 | CV90395 | single nucleotide variant | NM_001099780.1(PSMB11):c.7C>T (p.Leu3=) | Malignant melanoma [RCV000070493] | not provided | 14 | 23042232 | 23042232 | Human | | name |
| 401911735 | CV2808059 | single nucleotide variant | NM_002801.4(PSMB10):c.660T>C (p.Thr220=) | not provided [RCV003426748] | likely benign | 16 | 67934847 | 67934847 | Human | | name |
| 401903354 | CV2817588 | single nucleotide variant | NM_002801.4(PSMB10):c.53A>C (p.Gln18Pro) | not provided [RCV003419378] | likely benign | 16 | 67936697 | 67936697 | Human | | name |
| 405661872 | CV3378494 | single nucleotide variant | NM_002801.4(PSMB10):c.45G>T (p.Glu15Asp) | not specified [RCV004513268] | uncertain significance | 16 | 67936705 | 67936705 | Human | | name |
| 405662034 | CV3378496 | single nucleotide variant | NM_002801.4(PSMB10):c.711G>A (p.Arg237=) | not specified [RCV004513270] | likely benign | 16 | 67934671 | 67934671 | Human | | name |
| 405867668 | CV3400943 | duplication | NM_002801.4(PSMB10):c.247dup (p.Cys83fs) | Proteasome-associated autoinflammatory syndrome 5 [RCV004577061] | pathogenic | 16 | 67936098 | 67936099 | Human | 1 | name |
| 597749791 | CV3592003 | single nucleotide variant | NM_002801.4(PSMB10):c.98C>G (p.Pro33Arg) | not specified [RCV004846299] | uncertain significance | 16 | 67936444 | 67936444 | Human | | name |
| 597749796 | CV3592004 | single nucleotide variant | NM_002801.4(PSMB10):c.92A>G (p.Lys31Arg) | not specified [RCV004846300] | likely benign | 16 | 67936450 | 67936450 | Human | | name |
| 42724046 | CV984729 | single nucleotide variant | NM_002801.4(PSMB10):c.41T>C (p.Phe14Ser) | Proteasome-associated autoinflammatory syndrome 5 [RCV001291934] | pathogenic | 16 | 67936709 | 67936709 | Human | 1 | name |
| 156085784 | CV2340842 | single nucleotide variant | NM_002801.4(PSMB10):c.148G>C (p.Gly50Arg) | not specified [RCV004188199] | uncertain significance | 16 | 67936309 | 67936309 | Human | | name |
| 405661866 | CV3378492 | single nucleotide variant | NM_002801.4(PSMB10):c.251G>A (p.Gly84Glu) | not specified [RCV004513266] | uncertain significance | 16 | 67936095 | 67936095 | Human | | name |
| 405867672 | CV3400947 | single nucleotide variant | NM_002801.4(PSMB10):c.166G>C (p.Asp56His) | Immunodeficiency 121 with autoinflammation [RCV004577065] | pathogenic | 16 | 67936291 | 67936291 | Human | 1 | name |
| 596932943 | CV3539571 | single nucleotide variant | NM_002801.4(PSMB10):c.218T>C (p.Ile73Thr) | not provided [RCV004794196]|not specified [RCV005264567] | uncertain significance | 16 | 67936239 | 67936239 | Human | | name |
| 617149654 | CV4021333 | deletion | NM_002801.4(PSMB10):c.366del (p.Arg123fs) | not provided [RCV005425302] | uncertain significance | 16 | 67935980 | 67935980 | Human | | name |
| 155975038 | CV2270034 | single nucleotide variant | NM_002801.4(PSMB10):c.424G>A (p.Val142Ile) | not specified [RCV004129014] | uncertain significance | 16 | 67935657 | 67935657 | Human | | name |
| 156060356 | CV2323090 | single nucleotide variant | NM_002801.4(PSMB10):c.401G>A (p.Gly134Asp) | not specified [RCV004187505] | uncertain significance | 16 | 67935680 | 67935680 | Human | | name |
| 243051002 | CV2413590 | single nucleotide variant | NM_002801.4(PSMB10):c.629G>A (p.Gly210Asp) | Proteasome-associated autoinflammatory syndrome 5 [RCV003130347] | uncertain significance | 16 | 67934878 | 67934878 | Human | 1 | name |
| 243059741 | CV2413591 | single nucleotide variant | NM_002801.4(PSMB10):c.736G>A (p.Gly246Arg) | Proteasome-associated autoinflammatory syndrome 5 [RCV003135155]|not specified [RCV004246050] | uncertain significance | 16 | 67934646 | 67934646 | Human | 1 | name |
| 401757806 | CV2685559 | single nucleotide variant | NM_002801.4(PSMB10):c.361A>G (p.Ile121Val) | not specified [RCV004294571] | likely benign | 16 | 67935985 | 67935985 | Human | | name |
| 401761214 | CV2689067 | single nucleotide variant | NM_002801.4(PSMB10):c.718C>T (p.Arg240Cys) | not specified [RCV004305838] | uncertain significance | 16 | 67934664 | 67934664 | Human | | name |
| 401730807 | CV2711506 | single nucleotide variant | NM_002801.4(PSMB10):c.643T>A (p.Cys215Ser) | not specified [RCV004306821] | uncertain significance | 16 | 67934864 | 67934864 | Human | | name |
| 405661869 | CV3378493 | single nucleotide variant | NM_002801.4(PSMB10):c.367C>T (p.Arg123Cys) | not specified [RCV004513267] | likely benign | 16 | 67935979 | 67935979 | Human | | name |
| 405661874 | CV3378495 | single nucleotide variant | NM_002801.4(PSMB10):c.703G>A (p.Val235Met) | not specified [RCV004513269] | uncertain significance | 16 | 67934804 | 67934804 | Human | | name |
| 405661884 | CV3378499 | single nucleotide variant | NM_001099780.2(PSMB11):c.14A>T (p.Asp5Val) | not specified [RCV004513273] | uncertain significance | 14 | 23042239 | 23042239 | Human | | name |
| 405867667 | CV3400942 | single nucleotide variant | NM_002801.4(PSMB10):c.500G>A (p.Gly167Asp) | Proteasome-associated autoinflammatory syndrome 5 [RCV004577060] | pathogenic | 16 | 67935478 | 67935478 | Human | 1 | name |
| 405867670 | CV3400945 | single nucleotide variant | NM_002801.4(PSMB10):c.601G>A (p.Gly201Arg) | Immunodeficiency 121 with autoinflammation [RCV004577063] | pathogenic | 16 | 67934906 | 67934906 | Human | 1 | name |
| 405867671 | CV3400946 | single nucleotide variant | NM_002801.4(PSMB10):c.601G>C (p.Gly201Arg) | Immunodeficiency 121 with autoinflammation [RCV004577064] | pathogenic | 16 | 67934906 | 67934906 | Human | 1 | name |
| 407531676 | CV3471871 | single nucleotide variant | NM_002801.4(PSMB10):c.719G>T (p.Arg240Leu) | not specified [RCV004657728] | uncertain significance | 16 | 67934663 | 67934663 | Human | | name |
| 597749802 | CV3592005 | single nucleotide variant | NM_002801.4(PSMB10):c.490A>G (p.Thr164Ala) | not specified [RCV004846301] | uncertain significance | 16 | 67935591 | 67935591 | Human | | name |
| 597749807 | CV3592006 | single nucleotide variant | NM_002801.4(PSMB10):c.680C>T (p.Thr227Ile) | not specified [RCV004846302] | uncertain significance | 16 | 67934827 | 67934827 | Human | | name |
| 598170628 | CV3908108 | single nucleotide variant | NM_002801.4(PSMB10):c.677G>A (p.Arg226Gln) | not specified [RCV005263150] | uncertain significance | 16 | 67934830 | 67934830 | Human | | name |
| 155919223 | CV2202440 | single nucleotide variant | NM_001099780.2(PSMB11):c.89C>G (p.Pro30Arg) | not specified [RCV004080747] | uncertain significance | 14 | 23042314 | 23042314 | Human | | name |
| 156147052 | CV2357980 | single nucleotide variant | NM_001099780.2(PSMB11):c.68G>A (p.Arg23Gln) | not specified [RCV004209760] | likely benign | 14 | 23042293 | 23042293 | Human | | name |
| 401862979 | CV2755754 | single nucleotide variant | NM_001099780.2(PSMB11):c.40A>T (p.Thr14Ser) | not specified [RCV004342134] | uncertain significance | 14 | 23042265 | 23042265 | Human | | name |
| 405661901 | CV3378505 | single nucleotide variant | NM_001099780.2(PSMB11):c.97T>G (p.Cys33Gly) | not specified [RCV004513279] | uncertain significance | 14 | 23042322 | 23042322 | Human | | name |
| 405867666 | CV3400941 | deletion | NM_002801.4(PSMB10):c.40_42del (p.Phe14del) | Proteasome-associated autoinflammatory syndrome 5 [RCV004577059] | pathogenic | 16 | 67936708 | 67936710 | Human | 1 | name |
| 407491009 | CV3471873 | single nucleotide variant | NM_001099780.2(PSMB11):c.92G>A (p.Arg31Gln) | not specified [RCV004666761] | uncertain significance | 14 | 23042317 | 23042317 | Human | | name |
| 598170640 | CV3908111 | single nucleotide variant | NM_001099780.2(PSMB11):c.70G>C (p.Ala24Pro) | not specified [RCV005263153] | uncertain significance | 14 | 23042295 | 23042295 | Human | | name |
| 15173490 | CV702815 | single nucleotide variant | NM_001099780.2(PSMB11):c.486C>T (p.Tyr162=) | not provided [RCV000950228] | benign | 14 | 23042711 | 23042711 | Human | | name |
| 15163240 | CV725620 | deletion | NM_001099780.2(PSMB11):c.237del (p.Ser80fs) | not provided [RCV000881926] | benign | 14 | 23042461 | 23042461 | Human | | name |
| 156293742 | CV2243489 | single nucleotide variant | NM_001099780.2(PSMB11):c.251T>A (p.Ile84Asn) | not specified [RCV004112451] | uncertain significance | 14 | 23042476 | 23042476 | Human | | name |
| 155989631 | CV2282818 | single nucleotide variant | NM_001099780.2(PSMB11):c.200C>T (p.Thr67Met) | not specified [RCV004141662] | uncertain significance | 14 | 23042425 | 23042425 | Human | | name |
| 156196692 | CV2306744 | single nucleotide variant | NM_001099780.2(PSMB11):c.152C>T (p.Thr51Ile) | not specified [RCV004159327] | uncertain significance | 14 | 23042377 | 23042377 | Human | | name |
| 156122882 | CV2349977 | single nucleotide variant | NM_001099780.2(PSMB11):c.125A>G (p.His42Arg) | not specified [RCV004199905] | uncertain significance | 14 | 23042350 | 23042350 | Human | | name |
| 155999754 | CV2373452 | single nucleotide variant | NM_001099780.2(PSMB11):c.104C>T (p.Pro35Leu) | not specified [RCV004220150] | uncertain significance | 14 | 23042329 | 23042329 | Human | | name |
| 156076376 | CV2375032 | single nucleotide variant | NM_001099780.2(PSMB11):c.167G>A (p.Arg56His) | not specified [RCV004230083] | uncertain significance | 14 | 23042392 | 23042392 | Human | | name |
| 401942590 | CV2839679 | single nucleotide variant | NM_001099780.2(PSMB11):c.200C>A (p.Thr67Lys) | not provided [RCV003456600] | uncertain significance | 14 | 23042425 | 23042425 | Human | | name |
| 405661882 | CV3378498 | single nucleotide variant | NM_001099780.2(PSMB11):c.120G>T (p.Gln40His) | not specified [RCV004513272] | uncertain significance | 14 | 23042345 | 23042345 | Human | | name |
| 405661887 | CV3378500 | single nucleotide variant | NM_001099780.2(PSMB11):c.265C>A (p.His89Asn) | not specified [RCV004513274] | uncertain significance | 14 | 23042490 | 23042490 | Human | | name |
| 407531680 | CV3471875 | single nucleotide variant | NM_001099780.2(PSMB11):c.241T>C (p.Cys81Arg) | not specified [RCV004657730] | likely benign | 14 | 23042466 | 23042466 | Human | | name |
| 597749812 | CV3592007 | single nucleotide variant | NM_001099780.2(PSMB11):c.203G>A (p.Arg68His) | not specified [RCV004846303] | uncertain significance | 14 | 23042428 | 23042428 | Human | | name |
| 597749830 | CV3592011 | single nucleotide variant | NM_001099780.2(PSMB11):c.110C>A (p.Thr37Asn) | not specified [RCV004846306] | uncertain significance | 14 | 23042335 | 23042335 | Human | | name |
| 598170644 | CV3908112 | single nucleotide variant | NM_001099780.2(PSMB11):c.281C>A (p.Thr94Asn) | not specified [RCV005263154] | uncertain significance | 14 | 23042506 | 23042506 | Human | | name |
| 598170648 | CV3908113 | single nucleotide variant | NM_001099780.2(PSMB11):c.256G>A (p.Val86Met) | not specified [RCV005263155] | uncertain significance | 14 | 23042481 | 23042481 | Human | | name |
| 598170652 | CV3908114 | single nucleotide variant | NM_001099780.2(PSMB11):c.223G>A (p.Val75Met) | not specified [RCV005263156] | uncertain significance | 14 | 23042448 | 23042448 | Human | | name |
| 15174919 | CV702814 | single nucleotide variant | NM_001099780.2(PSMB11):c.145G>A (p.Gly49Ser) | not provided [RCV000950454] | benign | 14 | 23042370 | 23042370 | Human | 3 | name |
| 15174919 | CV702814 | single nucleotide variant | NM_001099780.2(PSMB11):c.145G>A (p.Gly49Ser) | not provided [RCV000950454] | benign | 14 | 23042370 | 23042371 | Human | 3 | name |
| 156074765 | CV2198044 | single nucleotide variant | NM_001099780.2(PSMB11):c.487G>A (p.Val163Ile) | not specified [RCV004079647] | uncertain significance | 14 | 23042712 | 23042712 | Human | | name |
| 155935213 | CV2225525 | single nucleotide variant | NM_001099780.2(PSMB11):c.577C>T (p.Arg193Cys) | not specified [RCV004100912] | uncertain significance | 14 | 23042802 | 23042802 | Human | | name |
| 156047637 | CV2244907 | single nucleotide variant | NM_001099780.2(PSMB11):c.358G>A (p.Gly120Ser) | not specified [RCV004104659] | uncertain significance | 14 | 23042583 | 23042583 | Human | | name |
| 155958373 | CV2282190 | single nucleotide variant | NM_001099780.2(PSMB11):c.481T>C (p.Phe161Leu) | not specified [RCV004138907] | uncertain significance | 14 | 23042706 | 23042706 | Human | | name |
| 156018459 | CV2302860 | single nucleotide variant | NM_001099780.2(PSMB11):c.686G>A (p.Arg229Gln) | not specified [RCV004162759] | uncertain significance | 14 | 23042911 | 23042911 | Human | | name |
| 156272863 | CV2344048 | single nucleotide variant | NM_001099780.2(PSMB11):c.329G>A (p.Arg110Gln) | not specified [RCV004195657] | uncertain significance | 14 | 23042554 | 23042554 | Human | | name |
| 155984332 | CV2344406 | single nucleotide variant | NM_001099780.2(PSMB11):c.463C>T (p.Arg155Cys) | not specified [RCV004195156] | uncertain significance | 14 | 23042688 | 23042688 | Human | | name |
| 156235345 | CV2346352 | single nucleotide variant | NM_001099780.2(PSMB11):c.583G>A (p.Asp195Asn) | not specified [RCV004203835] | uncertain significance | 14 | 23042808 | 23042808 | Human | | name |
| 156205704 | CV2385242 | single nucleotide variant | NM_001099780.2(PSMB11):c.682G>A (p.Val228Met) | not specified [RCV004228486] | uncertain significance | 14 | 23042907 | 23042907 | Human | | name |
| 156195866 | CV2400556 | single nucleotide variant | NM_001099780.2(PSMB11):c.617G>A (p.Arg206His) | not specified [RCV004246746] | uncertain significance | 14 | 23042842 | 23042842 | Human | | name |
| 401780526 | CV2674065 | single nucleotide variant | NM_001099780.2(PSMB11):c.643C>T (p.Arg215Cys) | not specified [RCV004295473] | uncertain significance | 14 | 23042868 | 23042868 | Human | | name |
| 401910313 | CV2810269 | single nucleotide variant | NM_001099780.2(PSMB11):c.344G>A (p.Arg115Gln) | not provided [RCV003424943] | likely benign | 14 | 23042569 | 23042569 | Human | | name |
| 405661890 | CV3378501 | single nucleotide variant | NM_001099780.2(PSMB11):c.368C>T (p.Pro123Leu) | not specified [RCV004513275] | uncertain significance | 14 | 23042593 | 23042593 | Human | | name |
| 405661896 | CV3378503 | single nucleotide variant | NM_001099780.2(PSMB11):c.757G>A (p.Glu253Lys) | not specified [RCV004513277] | uncertain significance | 14 | 23042982 | 23042982 | Human | | name |
| 405661899 | CV3378504 | single nucleotide variant | NM_001099780.2(PSMB11):c.776A>G (p.Asp259Gly) | not specified [RCV004513278] | uncertain significance | 14 | 23043001 | 23043001 | Human | | name |
| 407531678 | CV3471872 | single nucleotide variant | NM_001099780.2(PSMB11):c.578G>A (p.Arg193His) | not specified [RCV004657729] | uncertain significance | 14 | 23042803 | 23042803 | Human | | name |
| 407491012 | CV3471874 | single nucleotide variant | NM_001099780.2(PSMB11):c.896C>T (p.Thr299Met) | not specified [RCV004666762] | uncertain significance | 14 | 23043121 | 23043121 | Human | | name |
| 597749818 | CV3592008 | single nucleotide variant | NM_001099780.2(PSMB11):c.712C>T (p.Arg238Cys) | not specified [RCV004846304] | uncertain significance | 14 | 23042937 | 23042937 | Human | | name |
| 597749824 | CV3592010 | single nucleotide variant | NM_001099780.2(PSMB11):c.736G>A (p.Val246Met) | not specified [RCV004846305] | likely benign | 14 | 23042961 | 23042961 | Human | | name |
| 598170632 | CV3908109 | single nucleotide variant | NM_001099780.2(PSMB11):c.638C>T (p.Thr213Ile) | not specified [RCV005263151] | uncertain significance | 14 | 23042863 | 23042863 | Human | | name |
| 598170636 | CV3908110 | single nucleotide variant | NM_001099780.2(PSMB11):c.820G>A (p.Ala274Thr) | not specified [RCV005263152] | uncertain significance | 14 | 23043045 | 23043045 | Human | | name |
| 15122751 | CV714067 | single nucleotide variant | NM_001099780.2(PSMB11):c.607G>A (p.Ala203Thr) | not provided [RCV000963122] | benign | 14 | 23042832 | 23042832 | Human | | name |
| 15152059 | CV714068 | single nucleotide variant | NM_001099780.2(PSMB11):c.622G>A (p.Ala208Thr) | not provided [RCV000968273] | benign | 14 | 23042847 | 23042847 | Human | | name |