| 155916386 | CV2239722 | single nucleotide variant | NM_006137.7(CD7):c.14C>T (p.Pro5Leu) | not specified [RCV004108262] | uncertain significance | 17 | 82317482 | 82317482 | Human | | name |
| 156032157 | CV2274992 | single nucleotide variant | NM_006137.7(CD7):c.10C>G (p.Pro4Ala) | not specified [RCV004135037] | likely benign | 17 | 82317486 | 82317486 | Human | | name |
| 598229087 | CV3950828 | single nucleotide variant | NM_006137.7(CD7):c.10C>A (p.Pro4Thr) | not specified [RCV005319165] | uncertain significance | 17 | 82317486 | 82317486 | Human | | name |
| 401781184 | CV2726449 | single nucleotide variant | NM_006137.7(CD7):c.56G>T (p.Gly19Val) | not specified [RCV004328646] | uncertain significance | 17 | 82317440 | 82317440 | Human | | name |
| 155945054 | CV2269468 | single nucleotide variant | NM_006137.7(CD7):c.136A>G (p.Ile46Val) | not specified [RCV004124583] | uncertain significance | 17 | 82316928 | 82316928 | Human | | name |
| 156278581 | CV2348241 | single nucleotide variant | NM_006137.7(CD7):c.243C>A (p.Asp81Glu) | not specified [RCV004191282] | uncertain significance | 17 | 82316821 | 82316821 | Human | | name |
| 401754044 | CV2685144 | single nucleotide variant | NM_006137.7(CD7):c.260G>A (p.Arg87His) | not specified [RCV004289710] | uncertain significance | 17 | 82316804 | 82316804 | Human | | name |
| 401887600 | CV2772039 | single nucleotide variant | NM_006137.7(CD7):c.281A>G (p.Gln94Arg) | not specified [RCV004344713] | uncertain significance | 17 | 82316783 | 82316783 | Human | | name |
| 597778710 | CV3648486 | single nucleotide variant | NM_006137.7(CD7):c.166G>T (p.Gly56Trp) | not specified [RCV004899091] | uncertain significance | 17 | 82316898 | 82316898 | Human | | name |
| 598207732 | CV3950826 | single nucleotide variant | NM_006137.7(CD7):c.199C>G (p.Gln67Glu) | not specified [RCV005315336] | uncertain significance | 17 | 82316865 | 82316865 | Human | | name |
| 598207743 | CV3950829 | single nucleotide variant | NM_006137.7(CD7):c.254G>C (p.Arg85Pro) | not specified [RCV005315338] | uncertain significance | 17 | 82316810 | 82316810 | Human | | name |
| 156262306 | CV2201084 | single nucleotide variant | NM_006137.7(CD7):c.635G>A (p.Arg212Gln) | not specified [RCV004075207] | uncertain significance | 17 | 82315409 | 82315409 | Human | | name |
| 155936882 | CV2376153 | single nucleotide variant | NM_006137.7(CD7):c.370G>A (p.Gly124Ser) | not specified [RCV004220383] | uncertain significance | 17 | 82316694 | 82316694 | Human | | name |
| 329352886 | CV2470604 | single nucleotide variant | NM_006137.7(CD7):c.644A>G (p.Asn215Ser) | not specified [RCV004273601] | likely benign | 17 | 82315400 | 82315400 | Human | | name |
| 401771298 | CV2675538 | single nucleotide variant | NM_006137.7(CD7):c.476C>T (p.Ser159Phe) | not specified [RCV004295154] | uncertain significance | 17 | 82316331 | 82316331 | Human | | name |
| 401753679 | CV2685023 | single nucleotide variant | NM_006137.7(CD7):c.308G>A (p.Arg103His) | not specified [RCV004289606] | likely benign | 17 | 82316756 | 82316756 | Human | | name |
| 401770665 | CV2707337 | single nucleotide variant | NM_006137.7(CD7):c.329G>A (p.Gly110Asp) | not specified [RCV004312739] | uncertain significance | 17 | 82316735 | 82316735 | Human | | name |
| 401878713 | CV2754793 | single nucleotide variant | NM_006137.7(CD7):c.577G>A (p.Gly193Ser) | not specified [RCV004341274] | uncertain significance | 17 | 82316230 | 82316230 | Human | | name |
| 405772458 | CV3299854 | single nucleotide variant | NM_006137.7(CD7):c.464C>T (p.Pro155Leu) | not specified [RCV004435526] | uncertain significance | 17 | 82316343 | 82316343 | Human | | name |
| 405772463 | CV3299855 | single nucleotide variant | NM_006137.7(CD7):c.618G>C (p.Lys206Asn) | not specified [RCV004435527] | uncertain significance | 17 | 82315426 | 82315426 | Human | | name |
| 405772469 | CV3299856 | single nucleotide variant | NM_006137.7(CD7):c.685C>A (p.Arg229Ser) | not specified [RCV004435528] | uncertain significance | 17 | 82315359 | 82315359 | Human | | name |
| 407498850 | CV3425007 | single nucleotide variant | NM_006137.7(CD7):c.460G>A (p.Ala154Thr) | not specified [RCV004606589] | uncertain significance | 17 | 82316347 | 82316347 | Human | | name |
| 597778699 | CV3648483 | single nucleotide variant | NM_006137.7(CD7):c.518C>T (p.Pro173Leu) | not specified [RCV004899088] | likely benign | 17 | 82316289 | 82316289 | Human | | name |
| 597778702 | CV3648484 | single nucleotide variant | NM_006137.7(CD7):c.683G>A (p.Ser228Asn) | not specified [RCV004899089] | uncertain significance | 17 | 82315361 | 82315361 | Human | | name |
| 597778706 | CV3648485 | single nucleotide variant | NM_006137.7(CD7):c.649G>A (p.Ala217Thr) | not specified [RCV004899090] | uncertain significance | 17 | 82315395 | 82315395 | Human | | name |
| 597738853 | CV3648487 | single nucleotide variant | NM_006137.7(CD7):c.466C>G (p.Pro156Ala) | not specified [RCV004890205] | uncertain significance | 17 | 82316341 | 82316341 | Human | | name |
| 598207715 | CV3950822 | single nucleotide variant | NM_006137.7(CD7):c.428C>T (p.Ser143Leu) | not specified [RCV005315333] | uncertain significance | 17 | 82316379 | 82316379 | Human | | name |
| 598207721 | CV3950823 | single nucleotide variant | NM_006137.7(CD7):c.590C>T (p.Ala197Val) | not specified [RCV005315334] | likely benign | 17 | 82316217 | 82316217 | Human | | name |
| 598207727 | CV3950824 | single nucleotide variant | NM_006137.7(CD7):c.551C>T (p.Ala184Val) | not specified [RCV005315335] | uncertain significance | 17 | 82316256 | 82316256 | Human | | name |
| 598229080 | CV3950825 | single nucleotide variant | NM_006137.7(CD7):c.542C>T (p.Ala181Val) | not specified [RCV005319164] | likely benign | 17 | 82316265 | 82316265 | Human | | name |
| 598207740 | CV3950827 | single nucleotide variant | NM_006137.7(CD7):c.316C>G (p.Leu106Val) | not specified [RCV005315337] | uncertain significance | 17 | 82316748 | 82316748 | Human | | name |
| 405258298 | CV3203227 | single nucleotide variant | NM_000626.4(CD79B):c.-8C>T | CD79B-related disorder [RCV003941826] | likely benign | 17 | 63932269 | 63932269 | Human | | name , trait , alternate_id |
| 405282617 | CV3220627 | single nucleotide variant | NM_001783.4(CD79A):c.*4C>T | CD79A-related disorder [RCV003978943] | likely benign | 19 | 41880984 | 41880984 | Human | | name , trait , alternate_id |
| 150467101 | CV1277514 | single nucleotide variant | NM_000626.4(CD79B):c.*89T>C | not provided [RCV001710809]|not specified [RCV003487740] | benign | 17 | 63929137 | 63929137 | Human | | name |
| 401907204 | CV2795813 | single nucleotide variant | NM_001252.5(CD70):c.-133G>T | not specified [RCV003397165] | benign | 19 | 6591135 | 6591135 | Human | | name |
| 150439873 | CV1221370 | single nucleotide variant | NM_000626.4(CD79B):c.*154C>T | not provided [RCV001610065] | benign | 17 | 63929072 | 63929072 | Human | | name |
| 150473666 | CV1262940 | single nucleotide variant | NM_000626.4(CD79B):c.*153C>G | not provided [RCV001684756] | benign | 17 | 63929073 | 63929073 | Human | | name |
| 151867281 | CV1381724 | single nucleotide variant | NM_000626.4(CD79B):c.67+3A>G | Agammaglobulinemia 6, autosomal recessive [RCV001939314] | uncertain significance | 17 | 63932192 | 63932192 | Human | 1 | name , alternate_id |
| 152157505 | CV1615941 | single nucleotide variant | NM_000626.4(CD79B):c.67+9C>A | Agammaglobulinemia 6, autosomal recessive [RCV002159041] | likely benign | 17 | 63932186 | 63932186 | Human | 1 | name , alternate_id |
| 152144429 | CV1616255 | single nucleotide variant | NM_000626.4(CD79B):c.68-5A>G | Agammaglobulinemia 6, autosomal recessive [RCV002120817]|not provided [RCV004706385] | likely benign | 17 | 63931390 | 63931390 | Human | 1 | name , alternate_id |
| 156315591 | CV1910281 | single nucleotide variant | NM_001783.4(CD79A):c.79+6T>C | Agammaglobulinemia 3, autosomal recessive [RCV002599923] | uncertain significance | 19 | 41877389 | 41877389 | Human | 1 | name , alternate_id |
| 156021959 | CV2148233 | single nucleotide variant | NM_001783.4(CD79A):c.79+8G>A | Agammaglobulinemia 3, autosomal recessive [RCV003018274] | likely benign | 19 | 41877391 | 41877391 | Human | 1 | name , alternate_id |
| 402504723 | CV3020541 | single nucleotide variant | NM_000626.4(CD79B):c.68-7C>T | Agammaglobulinemia 6, autosomal recessive [RCV003628684] | likely benign | 17 | 63931392 | 63931392 | Human | 1 | name , alternate_id |
| 405294270 | CV3214726 | single nucleotide variant | NM_001252.5(CD70):c.196+7C>G | CD70-related disorder [RCV003934156] | likely benign | 19 | 6590096 | 6590096 | Human | | name , trait , alternate_id |
| 597916614 | CV3811003 | single nucleotide variant | NM_001783.4(CD79A):c.80-8C>G | Agammaglobulinemia 3, autosomal recessive [RCV005155038] | likely benign | 19 | 41878982 | 41878982 | Human | 1 | name , alternate_id |
| 597941127 | CV3846736 | single nucleotide variant | NM_000626.4(CD79B):c.67+9C>T | Agammaglobulinemia 6, autosomal recessive [RCV005187844] | likely benign | 17 | 63932186 | 63932186 | Human | 1 | name , alternate_id |
| 13476446 | CV467196 | single nucleotide variant | NM_000626.4(CD79B):c.68-9A>G | Agammaglobulinemia 6, autosomal recessive [RCV000526743] | likely benign | 17 | 63931394 | 63931394 | Human | 1 | name , alternate_id |
| 126743294 | CV998622 | single nucleotide variant | NM_001783.4(CD79A):c.80-3C>T | Agammaglobulinemia 3, autosomal recessive [RCV001296170] | uncertain significance | 19 | 41878987 | 41878987 | Human | 1 | name , alternate_id |
| 127325546 | CV1126536 | single nucleotide variant | NM_000626.4(CD79B):c.431-5C>T | Agammaglobulinemia 6, autosomal recessive [RCV001468539] | likely benign | 17 | 63929893 | 63929893 | Human | 1 | name , alternate_id |
| 127335663 | CV1126537 | single nucleotide variant | NM_000626.4(CD79B):c.430+8C>A | Agammaglobulinemia 6, autosomal recessive [RCV001474422] | likely benign | 17 | 63930066 | 63930066 | Human | 1 | name , alternate_id |
| 127290527 | CV1126538 | single nucleotide variant | NM_000626.4(CD79B):c.119-7C>T | Agammaglobulinemia 6, autosomal recessive [RCV001458463] | likely benign | 17 | 63930392 | 63930392 | Human | 1 | name , alternate_id |
| 127299165 | CV1158079 | single nucleotide variant | NM_000626.4(CD79B):c.550-8G>A | Agammaglobulinemia 6, autosomal recessive [RCV001513567] | benign | 17 | 63929483 | 63929483 | Human | 1 | name , alternate_id |
| 151817475 | CV1441172 | single nucleotide variant | NM_001783.4(CD79A):c.79+14G>A | Agammaglobulinemia 3, autosomal recessive [RCV001933816] | likely benign|uncertain significance | 19 | 41877397 | 41877397 | Human | 1 | name , alternate_id |
| 151757508 | CV1514220 | single nucleotide variant | NM_000626.4(CD79B):c.591+4A>T | Agammaglobulinemia 6, autosomal recessive [RCV001948770] | uncertain significance | 17 | 63929430 | 63929430 | Human | 1 | name , alternate_id |
| 152175806 | CV1527224 | single nucleotide variant | NM_000626.4(CD79B):c.67+17G>C | Agammaglobulinemia 6, autosomal recessive [RCV002163943] | benign | 17 | 63932178 | 63932178 | Human | 1 | name , alternate_id |
| 152176184 | CV1628396 | single nucleotide variant | NM_000626.4(CD79B):c.550-6C>T | Agammaglobulinemia 6, autosomal recessive [RCV002164326] | likely benign | 17 | 63929481 | 63929481 | Human | 1 | name , alternate_id |
| 152059365 | CV1652174 | single nucleotide variant | NM_000626.4(CD79B):c.67+18A>G | Agammaglobulinemia 6, autosomal recessive [RCV002190339] | likely benign | 17 | 63932177 | 63932177 | Human | 1 | name , alternate_id |
| 156013833 | CV1912602 | single nucleotide variant | NM_000626.4(CD79B):c.67+16C>T | Agammaglobulinemia 6, autosomal recessive [RCV002619041] | likely benign | 17 | 63932179 | 63932179 | Human | 1 | name , alternate_id |
| 156446932 | CV1948617 | single nucleotide variant | NM_001783.4(CD79A):c.380-8C>T | Agammaglobulinemia 3, autosomal recessive [RCV003118453] | likely benign | 19 | 41879527 | 41879527 | Human | 1 | name , alternate_id |
| 155902554 | CV2007101 | single nucleotide variant | NM_001783.4(CD79A):c.80-12G>A | Agammaglobulinemia 3, autosomal recessive [RCV002681193] | likely benign | 19 | 41878978 | 41878978 | Human | 1 | name , alternate_id |
| 156303004 | CV2013561 | single nucleotide variant | NM_001783.4(CD79A):c.379+3G>A | Agammaglobulinemia 3, autosomal recessive [RCV002716146] | uncertain significance | 19 | 41879292 | 41879292 | Human | 1 | name , alternate_id |
| 156243704 | CV2086099 | single nucleotide variant | NM_001783.4(CD79A):c.568-6T>C | Agammaglobulinemia 3, autosomal recessive [RCV002876689] | likely benign | 19 | 41880861 | 41880861 | Human | 1 | name , alternate_id |
| 156123696 | CV2124783 | single nucleotide variant | NM_000626.4(CD79B):c.67+14G>A | Agammaglobulinemia 6, autosomal recessive [RCV002953598] | likely benign | 17 | 63932181 | 63932181 | Human | 1 | name , alternate_id |
| 156167332 | CV2169700 | single nucleotide variant | NM_001783.4(CD79A):c.499-1G>A | Agammaglobulinemia 3, autosomal recessive [RCV003023406] | likely pathogenic | 19 | 41880669 | 41880669 | Human | 1 | name , alternate_id |
| 156170473 | CV2190296 | single nucleotide variant | NM_001783.4(CD79A):c.498+6C>A | Agammaglobulinemia 3, autosomal recessive [RCV003041016] | uncertain significance | 19 | 41879659 | 41879659 | Human | 1 | name , alternate_id |
| 404987995 | CV2849520 | single nucleotide variant | NM_001252.5(CD70):c.162+63T>C | not specified [RCV003490377] | benign | 19 | 6590778 | 6590778 | Human | | name |
| 405041665 | CV2861642 | single nucleotide variant | NM_000626.4(CD79B):c.549+9G>C | Agammaglobulinemia 6, autosomal recessive [RCV003517908] | likely benign | 17 | 63929761 | 63929761 | Human | 1 | name , alternate_id |
| 402511435 | CV2949355 | single nucleotide variant | NM_000626.4(CD79B):c.549+9G>A | Agammaglobulinemia 6, autosomal recessive [RCV003629469] | likely benign | 17 | 63929761 | 63929761 | Human | 1 | name , alternate_id |
| 405065093 | CV3036819 | single nucleotide variant | NM_001783.4(CD79A):c.499-8C>T | Agammaglobulinemia 3, autosomal recessive [RCV003632382] | likely benign | 19 | 41880662 | 41880662 | Human | 1 | name , alternate_id |
| 405186813 | CV3149103 | single nucleotide variant | NM_000626.4(CD79B):c.67+19G>A | Agammaglobulinemia 6, autosomal recessive [RCV003843027] | likely benign | 17 | 63932176 | 63932176 | Human | 1 | name , alternate_id |
| 8566354 | CV32745 | single nucleotide variant | NM_001783.4(CD79A):c.380-2A>G | Agammaglobulinemia 3, autosomal recessive [RCV000019280] | pathogenic | 19 | 41879533 | 41879533 | Human | 1 | name , alternate_id |
| 8566355 | CV32746 | single nucleotide variant | NM_001783.4(CD79A):c.379+1G>A | Agammaglobulinemia 3, autosomal recessive [RCV000019281] | pathogenic|likely pathogenic | 19 | 41879290 | 41879290 | Human | 1 | name , alternate_id |
| 597914872 | CV3740661 | single nucleotide variant | NM_001783.4(CD79A):c.380-7C>T | Agammaglobulinemia 3, autosomal recessive [RCV005073998] | likely benign | 19 | 41879528 | 41879528 | Human | 1 | name , alternate_id |
| 597971479 | CV3750740 | single nucleotide variant | NM_000626.4(CD79B):c.549+7A>G | Agammaglobulinemia 6, autosomal recessive [RCV005084484] | likely benign | 17 | 63929763 | 63929763 | Human | 1 | name , alternate_id |
| 597926736 | CV3778534 | single nucleotide variant | NM_001783.4(CD79A):c.80-13T>G | Agammaglobulinemia 3, autosomal recessive [RCV005131057] | likely benign | 19 | 41878977 | 41878977 | Human | 1 | name , alternate_id |
| 597893792 | CV3809991 | single nucleotide variant | NM_001783.4(CD79A):c.568-9C>G | Agammaglobulinemia 3, autosomal recessive [RCV005151712] | likely benign | 19 | 41880858 | 41880858 | Human | 1 | name , alternate_id |
| 597915103 | CV3834016 | single nucleotide variant | NM_000626.4(CD79B):c.68-10C>A | Agammaglobulinemia 6, autosomal recessive [RCV005183375] | likely benign | 17 | 63931395 | 63931395 | Human | 1 | name , alternate_id |
| 597936147 | CV3845380 | single nucleotide variant | NM_001783.4(CD79A):c.79+15G>A | Agammaglobulinemia 3, autosomal recessive [RCV005186693] | likely benign | 19 | 41877398 | 41877398 | Human | 1 | name , alternate_id |
| 597905255 | CV3846501 | single nucleotide variant | NM_000626.4(CD79B):c.118+3C>T | Agammaglobulinemia 6, autosomal recessive [RCV005181928] | uncertain significance | 17 | 63931332 | 63931332 | Human | 1 | name , alternate_id |
| 597948013 | CV3852405 | single nucleotide variant | NM_000626.4(CD79B):c.431-8C>G | Agammaglobulinemia 6, autosomal recessive [RCV005189483] | likely benign | 17 | 63929896 | 63929896 | Human | 1 | name , alternate_id |
| 13621266 | CV531447 | single nucleotide variant | NM_000626.4(CD79B):c.592-6C>G | Agammaglobulinemia 6, autosomal recessive [RCV000648112] | likely benign|uncertain significance | 17 | 63929330 | 63929330 | Human | 1 | name , alternate_id |
| 15192969 | CV731174 | single nucleotide variant | NM_000626.4(CD79B):c.67+10C>A | Agammaglobulinemia 6, autosomal recessive [RCV000888815]|CD79B-related disorder [RCV003948403]|not provided [RCV004704271] | likely benign | 17 | 63932185 | 63932185 | Human | 1 | name , trait , alternate_id |
| 15120871 | CV760470 | single nucleotide variant | NM_000626.4(CD79B):c.431-4G>A | Agammaglobulinemia 6, autosomal recessive [RCV000918388]|CD79B-related disorder [RCV003933078] | likely benign | 17 | 63929892 | 63929892 | Human | 1 | name , trait , alternate_id |
| 15183013 | CV779824 | single nucleotide variant | NM_000626.4(CD79B):c.431-3C>T | Agammaglobulinemia 6, autosomal recessive [RCV000974775] | likely benign | 17 | 63929891 | 63929891 | Human | 1 | name , alternate_id |
| 127253990 | CV1105156 | single nucleotide variant | NM_000626.4(CD79B):c.430+10A>C | Agammaglobulinemia 6, autosomal recessive [RCV001426211] | likely benign | 17 | 63930064 | 63930064 | Human | 1 | name , alternate_id |
| 127300263 | CV1126535 | single nucleotide variant | NM_000626.4(CD79B):c.549+14G>A | Agammaglobulinemia 6, autosomal recessive [RCV001461060] | likely benign | 17 | 63929756 | 63929756 | Human | 1 | name , alternate_id |
| 127290826 | CV1158080 | single nucleotide variant | NM_000626.4(CD79B):c.118+12C>T | Agammaglobulinemia 6, autosomal recessive [RCV001510027] | benign | 17 | 63931323 | 63931323 | Human | 1 | name , alternate_id |
| 150445874 | CV1215567 | single nucleotide variant | NM_000626.4(CD79B):c.68-140G>A | not provided [RCV001611160] | benign | 17 | 63931525 | 63931525 | Human | | name |
| 150440842 | CV1220224 | single nucleotide variant | NM_000626.4(CD79B):c.68-220A>C | not provided [RCV001610207] | benign | 17 | 63931605 | 63931605 | Human | 3 | name |
| 150440842 | CV1220224 | single nucleotide variant | NM_000626.4(CD79B):c.68-220A>C | not provided [RCV001610207] | benign | 17 | 63931605 | 63931606 | Human | 3 | name |
| 150484471 | CV1222502 | single nucleotide variant | NM_001783.4(CD79A):c.80-303G>A | not provided [RCV001617505] | benign | 19 | 41878687 | 41878687 | Human | | name |
| 151766671 | CV1366180 | single nucleotide variant | NM_000626.4(CD79B):c.591+13G>A | Agammaglobulinemia 6, autosomal recessive [RCV001949750] | likely benign | 17 | 63929421 | 63929421 | Human | 1 | name , alternate_id |
| 151814940 | CV1507470 | single nucleotide variant | NM_001783.4(CD79A):c.499-17C>T | Agammaglobulinemia 3, autosomal recessive [RCV001954188] | likely benign | 19 | 41880653 | 41880653 | Human | 1 | name , alternate_id |
| 152061298 | CV1541057 | single nucleotide variant | NM_000626.4(CD79B):c.549+11G>A | Agammaglobulinemia 6, autosomal recessive [RCV002190558] | likely benign | 17 | 63929759 | 63929759 | Human | 1 | name , alternate_id |
| 152034194 | CV1542865 | single nucleotide variant | NM_000626.4(CD79B):c.118+13G>A | Agammaglobulinemia 6, autosomal recessive [RCV002106704] | likely benign | 17 | 63931322 | 63931322 | Human | 1 | name , alternate_id |
| 152171337 | CV1544102 | single nucleotide variant | NM_001783.4(CD79A):c.498+10C>A | Agammaglobulinemia 3, autosomal recessive [RCV002162076] | likely benign | 19 | 41879663 | 41879663 | Human | 1 | name , alternate_id |
| 152072187 | CV1551597 | single nucleotide variant | NM_000626.4(CD79B):c.549+16G>A | Agammaglobulinemia 6, autosomal recessive [RCV002075254] | likely benign | 17 | 63929754 | 63929754 | Human | 1 | name , alternate_id |
| 152083273 | CV1554688 | single nucleotide variant | NM_001783.4(CD79A):c.567+12G>A | Agammaglobulinemia 3, autosomal recessive [RCV002211698] | likely benign | 19 | 41880750 | 41880750 | Human | 1 | name , alternate_id |
| 152132854 | CV1585152 | single nucleotide variant | NM_000626.4(CD79B):c.118+19C>T | Agammaglobulinemia 6, autosomal recessive [RCV002083104] | likely benign | 17 | 63931316 | 63931316 | Human | 1 | name , alternate_id |
| 152164727 | CV1588683 | single nucleotide variant | NM_000626.4(CD79B):c.549+11G>T | Agammaglobulinemia 6, autosomal recessive [RCV002181593] | likely benign | 17 | 63929759 | 63929759 | Human | 1 | name , alternate_id |
| 152107705 | CV1624090 | single nucleotide variant | NM_001783.4(CD79A):c.498+12C>T | Agammaglobulinemia 3, autosomal recessive [RCV002134074] | likely benign | 19 | 41879665 | 41879665 | Human | 1 | name , alternate_id |
| 152071323 | CV1628621 | single nucleotide variant | NM_000626.4(CD79B):c.550-17T>C | Agammaglobulinemia 6, autosomal recessive [RCV002169328] | benign | 17 | 63929492 | 63929492 | Human | 1 | name , alternate_id |
| 152128917 | CV1637386 | single nucleotide variant | NM_000626.4(CD79B):c.431-19C>T | Agammaglobulinemia 6, autosomal recessive [RCV002217795] | likely benign | 17 | 63929907 | 63929907 | Human | 1 | name , alternate_id |
| 152135099 | CV1638500 | single nucleotide variant | NM_001783.4(CD79A):c.498+13G>A | Agammaglobulinemia 3, autosomal recessive [RCV002083397] | likely benign | 19 | 41879666 | 41879666 | Human | 1 | name , alternate_id |
| 152032736 | CV1643169 | single nucleotide variant | NM_001783.4(CD79A):c.567+19T>G | Agammaglobulinemia 3, autosomal recessive [RCV002205036] | likely benign | 19 | 41880757 | 41880757 | Human | 1 | name , alternate_id |
| 152124612 | CV1646034 | deletion | NM_000626.4(CD79B):c.549+11del | Agammaglobulinemia 6, autosomal recessive [RCV002217230] | benign | 17 | 63929759 | 63929759 | Human | 1 | name , alternate_id |
| 152040669 | CV1649239 | single nucleotide variant | NM_001783.4(CD79A):c.499-15C>T | Agammaglobulinemia 3, autosomal recessive [RCV002206296] | likely benign | 19 | 41880655 | 41880655 | Human | 1 | name , alternate_id |
| 155945719 | CV1875475 | single nucleotide variant | NM_001783.4(CD79A):c.499-18C>A | Agammaglobulinemia 3, autosomal recessive [RCV003073833] | likely benign | 19 | 41880652 | 41880652 | Human | 1 | name , alternate_id |
| 156276573 | CV1880665 | single nucleotide variant | NM_000626.4(CD79B):c.549+20A>G | Agammaglobulinemia 6, autosomal recessive [RCV003060913] | likely benign | 17 | 63929750 | 63929750 | Human | 1 | name , alternate_id |
| 156118272 | CV1927200 | single nucleotide variant | NM_000626.4(CD79B):c.431-15C>A | Agammaglobulinemia 6, autosomal recessive [RCV002640207] | likely benign | 17 | 63929903 | 63929903 | Human | 1 | name , alternate_id |
| 156127817 | CV2027551 | single nucleotide variant | NM_000626.4(CD79B):c.431-20C>T | Agammaglobulinemia 6, autosomal recessive [RCV002740450] | likely benign | 17 | 63929908 | 63929908 | Human | 1 | name , alternate_id |
| 156337975 | CV2096078 | single nucleotide variant | NM_000626.4(CD79B):c.591+16G>A | Agammaglobulinemia 6, autosomal recessive [RCV002900316] | likely benign | 17 | 63929418 | 63929418 | Human | 1 | name , alternate_id |
| 155928116 | CV2145270 | single nucleotide variant | NM_000626.4(CD79B):c.549+17G>T | Agammaglobulinemia 6, autosomal recessive [RCV003013505] | likely benign | 17 | 63929753 | 63929753 | Human | 1 | name , alternate_id |
| 155981683 | CV2163128 | single nucleotide variant | NM_000626.4(CD79B):c.431-18C>G | Agammaglobulinemia 6, autosomal recessive [RCV003033910] | likely benign | 17 | 63929906 | 63929906 | Human | 1 | name , alternate_id |
| 156328440 | CV2180740 | single nucleotide variant | NM_000626.4(CD79B):c.118+15C>T | Agammaglobulinemia 6, autosomal recessive [RCV003047068] | likely benign | 17 | 63931320 | 63931320 | Human | 1 | name , alternate_id |
| 405042151 | CV2870458 | duplication | NM_001783.4(CD79A):c.379+23dup | Agammaglobulinemia 3, autosomal recessive [RCV003518097] | benign | 19 | 41879308 | 41879309 | Human | 1 | name , alternate_id |
| 405044577 | CV2880186 | single nucleotide variant | NM_000626.4(CD79B):c.431-13C>T | Agammaglobulinemia 6, autosomal recessive [RCV003518317] | likely benign | 17 | 63929901 | 63929901 | Human | 1 | name , alternate_id |
| 405029486 | CV2895785 | single nucleotide variant | NM_001783.4(CD79A):c.568-16C>T | Agammaglobulinemia 3, autosomal recessive [RCV003516657] | likely benign | 19 | 41880851 | 41880851 | Human | 1 | name , alternate_id |
| 405051710 | CV2942934 | single nucleotide variant | NM_001783.4(CD79A):c.499-18C>T | Agammaglobulinemia 3, autosomal recessive [RCV003631339] | likely benign | 19 | 41880652 | 41880652 | Human | 1 | name , alternate_id |
| 402509983 | CV2943462 | single nucleotide variant | NM_000626.4(CD79B):c.431-20C>A | Agammaglobulinemia 6, autosomal recessive [RCV003629316] | likely benign | 17 | 63929908 | 63929908 | Human | 1 | name , alternate_id |
| 402522269 | CV2965273 | single nucleotide variant | NM_000626.4(CD79B):c.550-19C>A | Agammaglobulinemia 6, autosomal recessive [RCV003630302] | likely benign | 17 | 63929494 | 63929494 | Human | 1 | name , alternate_id |
| 405061746 | CV3016698 | single nucleotide variant | NM_001783.4(CD79A):c.499-14A>C | Agammaglobulinemia 3, autosomal recessive [RCV003632119] | benign | 19 | 41880656 | 41880656 | Human | 1 | name , alternate_id |
| 405061711 | CV3016779 | single nucleotide variant | NM_001783.4(CD79A):c.499-10A>C | Agammaglobulinemia 3, autosomal recessive [RCV003632122]|CD79A-related disorder [RCV003966575] | benign|likely benign | 19 | 41880660 | 41880660 | Human | 1 | name , trait , alternate_id |
| 405008594 | CV3118318 | single nucleotide variant | NM_000626.4(CD79B):c.549+13C>T | Agammaglobulinemia 6, autosomal recessive [RCV003828748] | likely benign | 17 | 63929757 | 63929757 | Human | 1 | name , alternate_id |
| 402519669 | CV3126794 | single nucleotide variant | NM_000626.4(CD79B):c.431-18C>T | Agammaglobulinemia 6, autosomal recessive [RCV003824712] | likely benign | 17 | 63929906 | 63929906 | Human | 1 | name , alternate_id |
| 404978265 | CV3127310 | single nucleotide variant | NM_001783.4(CD79A):c.567+15G>C | Agammaglobulinemia 3, autosomal recessive [RCV003825534] | likely benign | 19 | 41880753 | 41880753 | Human | 1 | name , alternate_id |
| 404992068 | CV3132275 | single nucleotide variant | NM_001783.4(CD79A):c.379+19G>T | Agammaglobulinemia 3, autosomal recessive [RCV003827213] | likely benign | 19 | 41879308 | 41879308 | Human | 1 | name , alternate_id |
| 402470552 | CV3171094 | single nucleotide variant | NM_001783.4(CD79A):c.380-14C>A | Agammaglobulinemia 3, autosomal recessive [RCV003874057] | likely benign | 19 | 41879521 | 41879521 | Human | 1 | name , alternate_id |
| 597951735 | CV3798409 | deletion | NM_000626.4(CD79B):c.430+12del | Agammaglobulinemia 6, autosomal recessive [RCV005136190] | likely benign | 17 | 63930062 | 63930062 | Human | 1 | name , alternate_id |
| 597973663 | CV3801484 | single nucleotide variant | NM_001783.4(CD79A):c.380-13T>C | Agammaglobulinemia 3, autosomal recessive [RCV005143473] | likely benign | 19 | 41879522 | 41879522 | Human | 1 | name , alternate_id |
| 597871760 | CV3835750 | single nucleotide variant | NM_000626.4(CD79B):c.431-15C>T | Agammaglobulinemia 6, autosomal recessive [RCV005176741] | likely benign | 17 | 63929903 | 63929903 | Human | 1 | name , alternate_id |
| 597911041 | CV3854255 | single nucleotide variant | NM_000626.4(CD79B):c.550-15C>A | Agammaglobulinemia 6, autosomal recessive [RCV005203525] | likely benign | 17 | 63929490 | 63929490 | Human | 1 | name , alternate_id |
| 150490881 | CV1267686 | single nucleotide variant | NM_001783.4(CD79A):c.498+195G>T | not provided [RCV001687710] | benign | 19 | 41879848 | 41879848 | Human | 1 | name |
| 150490881 | CV1267686 | single nucleotide variant | NM_001783.4(CD79A):c.498+195G>T | not provided [RCV001687710] | benign | 19 | 41879848 | 41879849 | Human | 1 | name |
| 150459934 | CV1268415 | single nucleotide variant | NM_000626.4(CD79B):c.549+133A>G | not provided [RCV001693412] | benign | 17 | 63929637 | 63929637 | Human | | name |
| 150473698 | CV1281565 | single nucleotide variant | NM_000626.4(CD79B):c.118+258G>A | not provided [RCV001713572] | benign | 17 | 63931077 | 63931077 | Human | 1 | name |
| 150473698 | CV1281565 | single nucleotide variant | NM_000626.4(CD79B):c.118+258G>A | not provided [RCV001713572] | benign | 17 | 63931077 | 63931078 | Human | 1 | name |
| 401918033 | CV2825425 | single nucleotide variant | NM_001025159.3(CD74):c.881-3C>T | not provided [RCV003429904] | likely benign | 5 | 150402253 | 150402253 | Human | | name |
| 150490563 | CV1267634 | microsatellite | NM_001783.4(CD79A):c.499-218GGAA[14] | not provided [RCV001687658] | benign | 19 | 41880451 | 41880452 | Human | | name |
| 150442524 | CV1287738 | duplication | NM_001783.4(CD79A):c.499-212_499-210dup | not provided [RCV001725459] | benign | 19 | 41880456 | 41880457 | Human | | name |
| 156164246 | CV1929895 | indel | NM_000626.4(CD79B):c.431-8_431-7delinsTG | Agammaglobulinemia 6, autosomal recessive [RCV002624492] | uncertain significance | 17 | 63929895 | 63929896 | Human | | name , alternate_id |
| 156395746 | CV1980408 | indel | NM_001783.4(CD79A):c.567+20_567+21delinsAT | Agammaglobulinemia 3, autosomal recessive [RCV002605115] | likely benign | 19 | 41880758 | 41880759 | Human | | name , alternate_id |
| 151356373 | CV1329137 | single nucleotide variant | NM_001252.5(CD70):c.48G>A (p.Gly16=) | CD70-related disorder [RCV003941165]|not provided [RCV003416481]|not specified [RCV001822726] | likely benign | 19 | 6590955 | 6590955 | Human | 1 | name , trait , alternate_id |
| 401944536 | CV2840257 | single nucleotide variant | NM_001252.5(CD70):c.423C>T (p.Ser141=) | CD70-related disorder [RCV003939051]|not provided [RCV003457278] | benign|likely benign | 19 | 6586179 | 6586179 | Human | 1 | name , trait , alternate_id |
| 405276146 | CV3208185 | single nucleotide variant | NM_001330332.2(CD70):c.608A>G (p.Asn203Ser) | CD70-related disorder [RCV003941626] | likely benign | 19 | 6583319 | 6583319 | Human | | name , trait , alternate_id |
| 405276150 | CV3208284 | single nucleotide variant | NM_001330332.2(CD70):c.453T>G (p.Leu151=) | CD70-related disorder [RCV003941713] | likely benign | 19 | 6583474 | 6583474 | Human | | name , trait , alternate_id |
| 405271738 | CV3209450 | single nucleotide variant | NM_001252.5(CD70):c.477G>A (p.Thr159=) | CD70-related disorder [RCV003949770] | likely benign | 19 | 6586125 | 6586125 | Human | | name , trait , alternate_id |
| 151854350 | CV1455706 | single nucleotide variant | NM_001783.4(CD79A):c.624C>T (p.Gly208=) | Agammaglobulinemia 3, autosomal recessive [RCV002016991]|CD79A-related disorder [RCV003948871] | likely benign|uncertain significance | 19 | 41880923 | 41880923 | Human | 1 | name , trait , alternate_id |
| 156375230 | CV1899363 | single nucleotide variant | NM_000626.4(CD79B):c.523G>A (p.Val175Met) | Agammaglobulinemia 6, autosomal recessive [RCV003092805]|CD79B-related disorder [RCV003420337] | uncertain significance | 17 | 63929796 | 63929796 | Human | 1 | name , trait , alternate_id |
| 401937250 | CV2808726 | single nucleotide variant | NM_001783.4(CD79A):c.81C>G (p.Gly27=) | CD79A-related disorder [RCV003919151]|not provided [RCV003415258] | likely benign | 19 | 41878991 | 41878991 | Human | 1 | name , trait , alternate_id |
| 401910547 | CV2808727 | single nucleotide variant | NM_001783.4(CD79A):c.87G>C (p.Gly29=) | CD79A-related disorder [RCV003908916]|not provided [RCV003425191] | likely benign | 19 | 41878997 | 41878997 | Human | 1 | name , trait , alternate_id |
| 15178131 | CV727343 | single nucleotide variant | NM_000626.4(CD79B):c.48G>A (p.Ala16=) | Agammaglobulinemia 6, autosomal recessive [RCV000884988]|CD79B-related disorder [RCV003940515] | likely benign | 17 | 63932214 | 63932214 | Human | 1 | name , trait , alternate_id |
| 152030620 | CV1632237 | single nucleotide variant | NM_001783.4(CD79A):c.24C>T (p.Leu8=) | Agammaglobulinemia 3, autosomal recessive [RCV002124372] | likely benign | 19 | 41877328 | 41877328 | Human | 1 | name , alternate_id |
| 156408527 | CV1870115 | single nucleotide variant | NM_001783.4(CD79A):c.12T>G (p.Gly4=) | Agammaglobulinemia 3, autosomal recessive [RCV003071304] | likely benign | 19 | 41877316 | 41877316 | Human | 1 | name , alternate_id |
| 156176906 | CV2258135 | single nucleotide variant | NM_001782.3(CD72):c.5C>G (p.Ala2Gly) | not specified [RCV004121523] | uncertain significance | 9 | 35618299 | 35618299 | Human | | name |
| 402516559 | CV3073473 | single nucleotide variant | NM_000626.4(CD79B):c.24T>C (p.Pro8=) | Agammaglobulinemia 6, autosomal recessive [RCV003629893] | likely benign | 17 | 63932238 | 63932238 | Human | 1 | name , alternate_id |
| 13506508 | CV468842 | single nucleotide variant | NM_001783.4(CD79A):c.21C>T (p.Val7=) | Agammaglobulinemia 3, autosomal recessive [RCV000576174] | likely benign | 19 | 41877325 | 41877325 | Human | 1 | name , alternate_id |
| 15113595 | CV756023 | single nucleotide variant | NM_000626.4(CD79B):c.15G>A (p.Ala5=) | Agammaglobulinemia 6, autosomal recessive [RCV001428278] | likely benign | 17 | 63932247 | 63932247 | Human | 1 | name , alternate_id |
| 127267617 | CV1105159 | single nucleotide variant | NM_000626.4(CD79B):c.48G>C (p.Ala16=) | Agammaglobulinemia 6, autosomal recessive [RCV001429755] | likely benign | 17 | 63932214 | 63932214 | Human | 1 | name , alternate_id |
| 127277101 | CV1106551 | single nucleotide variant | NM_001783.4(CD79A):c.30T>C (p.Ala10=) | Agammaglobulinemia 3, autosomal recessive [RCV001444194] | likely benign | 19 | 41877334 | 41877334 | Human | 1 | name , alternate_id |
| 151849208 | CV1439981 | single nucleotide variant | NM_001783.4(CD79A):c.8G>C (p.Gly3Ala) | Agammaglobulinemia 3, autosomal recessive [RCV002016343] | uncertain significance | 19 | 41877312 | 41877312 | Human | 1 | name , alternate_id |
| 152093523 | CV1570603 | single nucleotide variant | NM_000626.4(CD79B):c.75A>C (p.Pro25=) | Agammaglobulinemia 6, autosomal recessive [RCV002213052] | likely benign | 17 | 63931378 | 63931378 | Human | 1 | name , alternate_id |
| 152032078 | CV1624680 | single nucleotide variant | NM_001783.4(CD79A):c.54C>A (p.Leu18=) | Agammaglobulinemia 3, autosomal recessive [RCV002186826] | likely benign | 19 | 41877358 | 41877358 | Human | 1 | name , alternate_id |
| 156205001 | CV1905843 | single nucleotide variant | NM_000626.4(CD79B):c.93G>A (p.Ser31=) | Agammaglobulinemia 6, autosomal recessive [RCV003084365] | likely benign | 17 | 63931360 | 63931360 | Human | 1 | name , alternate_id |
| 156384903 | CV2001733 | single nucleotide variant | NM_001783.4(CD79A):c.51C>A (p.Leu17=) | Agammaglobulinemia 3, autosomal recessive [RCV002653921] | likely benign | 19 | 41877355 | 41877355 | Human | 1 | name , alternate_id |
| 405772485 | CV3299858 | single nucleotide variant | NM_001252.5(CD70):c.26C>T (p.Ser9Leu) | Inborn genetic diseases [RCV004435530] | uncertain significance | 19 | 6590977 | 6590977 | Human | 1 | name |
| 597898345 | CV3782549 | single nucleotide variant | NM_000626.4(CD79B):c.48G>T (p.Ala16=) | Agammaglobulinemia 6, autosomal recessive [RCV005126774] | likely benign | 17 | 63932214 | 63932214 | Human | 1 | name , alternate_id |
| 598124767 | CV3885383 | single nucleotide variant | NM_001252.5(CD70):c.156A>G (p.Ser52=) | not specified [RCV005239960] | likely benign | 19 | 6590847 | 6590847 | Human | | name |
| 13535784 | CV506093 | single nucleotide variant | NM_000626.4(CD79B):c.90A>G (p.Arg30=) | not specified [RCV000608039] | likely benign | 17 | 63931363 | 63931363 | Human | | name |
| 15179710 | CV716471 | single nucleotide variant | NM_001783.4(CD79A):c.61C>T (p.Leu21=) | Agammaglobulinemia 3, autosomal recessive [RCV001480000] | likely benign | 19 | 41877365 | 41877365 | Human | 1 | name , alternate_id |
| 127233833 | CV1083364 | single nucleotide variant | NM_000626.4(CD79B):c.102G>A (p.Arg34=) | Agammaglobulinemia 6, autosomal recessive [RCV001396287] | likely benign | 17 | 63931351 | 63931351 | Human | 1 | name , alternate_id |
| 127235530 | CV1084774 | single nucleotide variant | NM_001783.4(CD79A):c.183C>T (p.Asn61=) | Agammaglobulinemia 3, autosomal recessive [RCV001414484]|not provided [RCV001815548] | likely benign | 19 | 41879093 | 41879093 | Human | 1 | name , alternate_id |
| 127278948 | CV1084775 | single nucleotide variant | NM_001783.4(CD79A):c.225G>A (p.Thr75=) | Agammaglobulinemia 3, autosomal recessive [RCV001408818] | likely benign | 19 | 41879135 | 41879135 | Human | 1 | name , alternate_id |
| 127248412 | CV1084776 | single nucleotide variant | NM_001783.4(CD79A):c.270G>A (p.Thr90=) | Agammaglobulinemia 3, autosomal recessive [RCV001399374]|not specified [RCV005308441] | likely benign | 19 | 41879180 | 41879180 | Human | 1 | name , alternate_id |
| 127255214 | CV1105158 | single nucleotide variant | NM_000626.4(CD79B):c.213C>G (p.Ser71=) | Agammaglobulinemia 6, autosomal recessive [RCV001437423] | likely benign | 17 | 63930291 | 63930291 | Human | 1 | name , alternate_id |
| 127318738 | CV1127921 | single nucleotide variant | NM_001783.4(CD79A):c.165G>A (p.Pro55=) | Agammaglobulinemia 3, autosomal recessive [RCV001466341] | likely benign | 19 | 41879075 | 41879075 | Human | 1 | name , alternate_id |
| 127288173 | CV1147452 | single nucleotide variant | NM_000626.4(CD79B):c.213C>T (p.Ser71=) | Agammaglobulinemia 6, autosomal recessive [RCV001495123]|not provided [RCV003456499] | likely benign | 17 | 63930291 | 63930291 | Human | 1 | name , alternate_id |
| 127315043 | CV1148891 | single nucleotide variant | NM_001783.4(CD79A):c.210C>A (p.Leu70=) | Agammaglobulinemia 3, autosomal recessive [RCV001502616] | likely benign | 19 | 41879120 | 41879120 | Human | 1 | name , alternate_id |
| 152171073 | CV1543936 | single nucleotide variant | NM_000626.4(CD79B):c.282C>T (p.Gly94=) | Agammaglobulinemia 6, autosomal recessive [RCV002161981] | likely benign | 17 | 63930222 | 63930222 | Human | 1 | name , alternate_id |
| 152156340 | CV1589539 | single nucleotide variant | NM_000626.4(CD79B):c.255T>C (p.Asn85=) | Agammaglobulinemia 6, autosomal recessive [RCV002122485] | likely benign | 17 | 63930249 | 63930249 | Human | 1 | name , alternate_id |
| 152045304 | CV1590679 | single nucleotide variant | NM_001783.4(CD79A):c.204C>T (p.Arg68=) | Agammaglobulinemia 3, autosomal recessive [RCV002108275] | likely benign | 19 | 41879114 | 41879114 | Human | 1 | name , alternate_id |
| 152047780 | CV1591434 | single nucleotide variant | NM_000626.4(CD79B):c.100C>A (p.Arg34=) | Agammaglobulinemia 6, autosomal recessive [RCV002189027] | likely benign | 17 | 63931353 | 63931353 | Human | 1 | name , alternate_id |
| 152165820 | CV1611454 | single nucleotide variant | NM_000626.4(CD79B):c.261G>A (p.Gln87=) | Agammaglobulinemia 6, autosomal recessive [RCV002141794] | likely benign | 17 | 63930243 | 63930243 | Human | 1 | name , alternate_id |
| 156111063 | CV1903924 | single nucleotide variant | NM_000626.4(CD79B):c.162C>T (p.Ala54=) | Agammaglobulinemia 6, autosomal recessive [RCV003080973] | likely benign | 17 | 63930342 | 63930342 | Human | 1 | name , alternate_id |
| 156370276 | CV1923472 | single nucleotide variant | NM_001783.4(CD79A):c.189C>T (p.Asn63=) | Agammaglobulinemia 3, autosomal recessive [RCV002633329] | likely benign | 19 | 41879099 | 41879099 | Human | 1 | name , alternate_id |
| 156437256 | CV1937391 | single nucleotide variant | NM_001783.4(CD79A):c.108C>T (p.His36=) | Agammaglobulinemia 3, autosomal recessive [RCV003106787] | likely benign | 19 | 41879018 | 41879018 | Human | 1 | name , alternate_id |
| 156230476 | CV2074924 | single nucleotide variant | NM_000626.4(CD79B):c.294G>A (p.Glu98=) | Agammaglobulinemia 6, autosomal recessive [RCV002830029] | likely benign | 17 | 63930210 | 63930210 | Human | 1 | name , alternate_id |
| 156126422 | CV2088409 | single nucleotide variant | NM_001783.4(CD79A):c.150C>T (p.Ala50=) | Agammaglobulinemia 3, autosomal recessive [RCV002871468] | likely benign | 19 | 41879060 | 41879060 | Human | 1 | name , alternate_id |
| 155931392 | CV2370906 | single nucleotide variant | NM_001783.4(CD79A):c.13C>T (p.Pro5Ser) | not specified [RCV004218636] | uncertain significance | 19 | 41877317 | 41877317 | Human | | name |
| 401906786 | CV2795693 | single nucleotide variant | NM_001252.5(CD70):c.345C>T (p.Cys115=) | not specified [RCV003397045] | benign | 19 | 6586257 | 6586257 | Human | | name |
| 405038784 | CV2929579 | single nucleotide variant | NM_001783.4(CD79A):c.120A>C (p.Ala40=) | Agammaglobulinemia 3, autosomal recessive [RCV003517757] | likely benign | 19 | 41879030 | 41879030 | Human | 1 | name , alternate_id |
| 402522506 | CV2965834 | single nucleotide variant | NM_000626.4(CD79B):c.144G>A (p.Gln48=) | Agammaglobulinemia 6, autosomal recessive [RCV003630320] | likely benign | 17 | 63930360 | 63930360 | Human | 1 | name , alternate_id |
| 405047788 | CV3006773 | single nucleotide variant | NM_000626.4(CD79B):c.225C>T (p.Ser75=) | Agammaglobulinemia 6, autosomal recessive [RCV003630916] | likely benign | 17 | 63930279 | 63930279 | Human | 1 | name , alternate_id |
| 402508389 | CV3055812 | single nucleotide variant | NM_000626.4(CD79B):c.132G>A (p.Ser44=) | Agammaglobulinemia 6, autosomal recessive [RCV003629078] | likely benign | 17 | 63930372 | 63930372 | Human | 1 | name , alternate_id |
| 402515424 | CV3066221 | single nucleotide variant | NM_000626.4(CD79B):c.279G>A (p.Lys93=) | Agammaglobulinemia 6, autosomal recessive [RCV003629804] | likely benign | 17 | 63930225 | 63930225 | Human | 1 | name , alternate_id |
| 405772503 | CV3299861 | single nucleotide variant | NM_001252.5(CD70):c.73C>A (p.Pro25Thr) | Inborn genetic diseases [RCV004435533] | uncertain significance | 19 | 6590930 | 6590930 | Human | 1 | name |
| 597778717 | CV3648491 | single nucleotide variant | NM_001782.3(CD72):c.81G>C (p.Gln27His) | not specified [RCV004899093] | uncertain significance | 9 | 35618223 | 35618223 | Human | | name |
| 597877512 | CV3776029 | single nucleotide variant | NM_001783.4(CD79A):c.159A>G (p.Gln53=) | Agammaglobulinemia 3, autosomal recessive [RCV005123556] | likely benign | 19 | 41879069 | 41879069 | Human | 1 | name , alternate_id |
| 597959856 | CV3843478 | single nucleotide variant | NM_000626.4(CD79B):c.105C>T (p.Tyr35=) | Agammaglobulinemia 6, autosomal recessive [RCV005192514] | likely benign | 17 | 63931348 | 63931348 | Human | 1 | name , alternate_id |
| 597918535 | CV3861561 | single nucleotide variant | NM_000626.4(CD79B):c.192C>T (p.His64=) | Agammaglobulinemia 6, autosomal recessive [RCV005204717] | likely benign | 17 | 63930312 | 63930312 | Human | 1 | name , alternate_id |
| 14350051 | CV590635 | deletion | NM_001252.5(CD70):c.250del (p.Ser84fs) | Severe combined immunodeficiency due to CD70 deficiency [RCV000735976] | pathogenic | 19 | 6586352 | 6586352 | Human | 1 | name , trait |
| 15128021 | CV740938 | single nucleotide variant | NM_000626.4(CD79B):c.102G>C (p.Arg34=) | Agammaglobulinemia 6, autosomal recessive [RCV000897201] | benign | 17 | 63931351 | 63931351 | Human | 1 | name , alternate_id |
| 15126568 | CV785684 | single nucleotide variant | NM_000626.4(CD79B):c.165G>A (p.Arg55=) | Agammaglobulinemia 6, autosomal recessive [RCV001457884] | likely benign | 17 | 63930339 | 63930339 | Human | 1 | name , alternate_id |
| 15120340 | CV785685 | single nucleotide variant | NM_000626.4(CD79B):c.120T>A (p.Gly40=) | Agammaglobulinemia 6, autosomal recessive [RCV001421245] | likely benign | 17 | 63930384 | 63930384 | Human | 1 | name , alternate_id |
| 15115723 | CV786207 | single nucleotide variant | NM_001783.4(CD79A):c.147C>T (p.Asp49=) | Agammaglobulinemia 3, autosomal recessive [RCV002066473] | likely benign | 19 | 41879057 | 41879057 | Human | 1 | name , alternate_id |
| 38475920 | CV938117 | single nucleotide variant | NM_000626.4(CD79B):c.14C>T (p.Ala5Val) | Agammaglobulinemia 6, autosomal recessive [RCV001204451]|not provided [RCV001531442] | uncertain significance | 17 | 63932248 | 63932248 | Human | 1 | name , alternate_id |
| 127276076 | CV1083363 | single nucleotide variant | NM_000626.4(CD79B):c.498G>A (p.Thr166=) | Agammaglobulinemia 6, autosomal recessive [RCV001407040] | likely benign | 17 | 63929821 | 63929821 | Human | 1 | name , alternate_id |
| 127232742 | CV1084777 | single nucleotide variant | NM_001783.4(CD79A):c.465C>T (p.Cys155=) | Agammaglobulinemia 3, autosomal recessive [RCV001413598] | likely benign | 19 | 41879620 | 41879620 | Human | 1 | name , alternate_id |
| 127284008 | CV1105155 | single nucleotide variant | NM_000626.4(CD79B):c.648G>A (p.Gly216=) | Agammaglobulinemia 6, autosomal recessive [RCV001448915] | likely benign | 17 | 63929268 | 63929268 | Human | 1 | name , alternate_id |
| 127274772 | CV1105157 | single nucleotide variant | NM_000626.4(CD79B):c.390G>A (p.Ser130=) | Agammaglobulinemia 6, autosomal recessive [RCV001432067] | likely benign | 17 | 63930114 | 63930114 | Human | 1 | name , alternate_id |
| 127262844 | CV1106552 | single nucleotide variant | NM_001783.4(CD79A):c.400C>T (p.Leu134=) | Agammaglobulinemia 3, autosomal recessive [RCV001439145] | likely benign | 19 | 41879555 | 41879555 | Human | 1 | name , alternate_id |
| 127271219 | CV1106553 | single nucleotide variant | NM_001783.4(CD79A):c.552T>C (p.Asp184=) | Agammaglobulinemia 3, autosomal recessive [RCV001441746] | likely benign | 19 | 41880723 | 41880723 | Human | 1 | name , alternate_id |
| 127294490 | CV1126534 | single nucleotide variant | NM_000626.4(CD79B):c.678A>C (p.Pro226=) | Agammaglobulinemia 6, autosomal recessive [RCV001452252] | likely benign | 17 | 63929238 | 63929238 | Human | 1 | name , alternate_id |
| 127311946 | CV1147451 | single nucleotide variant | NM_000626.4(CD79B):c.372G>A (p.Gln124=) | Agammaglobulinemia 6, autosomal recessive [RCV001481574] | likely benign | 17 | 63930132 | 63930132 | Human | 1 | name , alternate_id |
| 127298996 | CV1148892 | single nucleotide variant | NM_001783.4(CD79A):c.327G>A (p.Gln109=) | Agammaglobulinemia 3, autosomal recessive [RCV001498200] | likely benign | 19 | 41879237 | 41879237 | Human | 1 | name , alternate_id |
| 8687137 | CV137570 | single nucleotide variant | NM_001783.4(CD79A):c.28G>A (p.Ala10Thr) | Agammaglobulinemia 3, autosomal recessive [RCV001401104]|not specified [RCV000120483] | likely benign|uncertain significance|not provided | 19 | 41877332 | 41877332 | Human | 1 | name , alternate_id |
| 151780812 | CV1458194 | single nucleotide variant | NM_001783.4(CD79A):c.309A>C (p.Ile103=) | Agammaglobulinemia 3, autosomal recessive [RCV001951056] | likely benign | 19 | 41879219 | 41879219 | Human | 1 | name , alternate_id |
| 151792708 | CV1490203 | single nucleotide variant | NM_000626.4(CD79B):c.591G>A (p.Glu197=) | Agammaglobulinemia 6, autosomal recessive [RCV001952198] | uncertain significance | 17 | 63929434 | 63929434 | Human | 1 | name , alternate_id |
| 152063810 | CV1535681 | single nucleotide variant | NM_000626.4(CD79B):c.567C>T (p.Gly189=) | Agammaglobulinemia 6, autosomal recessive [RCV002168344] | likely benign | 17 | 63929458 | 63929458 | Human | 1 | name , alternate_id |
| 152169962 | CV1546792 | single nucleotide variant | NM_000626.4(CD79B):c.636G>A (p.Thr212=) | Agammaglobulinemia 6, autosomal recessive [RCV002142962] | likely benign | 17 | 63929280 | 63929280 | Human | 1 | name , alternate_id |
| 152116959 | CV1555995 | single nucleotide variant | NM_001783.4(CD79A):c.453C>T (p.Ile151=) | Agammaglobulinemia 3, autosomal recessive [RCV002216268] | likely benign | 19 | 41879608 | 41879608 | Human | 1 | name , alternate_id |
| 152102855 | CV1560473 | single nucleotide variant | NM_000626.4(CD79B):c.522C>T (p.Ile174=) | Agammaglobulinemia 6, autosomal recessive [RCV002152021] | likely benign | 17 | 63929797 | 63929797 | Human | 1 | name , alternate_id |
| 152040371 | CV1561635 | single nucleotide variant | NM_000626.4(CD79B):c.351T>C (p.Asn117=) | Agammaglobulinemia 6, autosomal recessive [RCV002188168] | likely benign | 17 | 63930153 | 63930153 | Human | 1 | name , alternate_id |
| 152126005 | CV1565730 | single nucleotide variant | NM_000626.4(CD79B):c.585C>G (p.Thr195=) | Agammaglobulinemia 6, autosomal recessive [RCV002136321] | likely benign | 17 | 63929440 | 63929440 | Human | 1 | name , alternate_id |
| 152141306 | CV1571519 | single nucleotide variant | NM_001783.4(CD79A):c.372C>T (p.Arg124=) | Agammaglobulinemia 3, autosomal recessive [RCV002138212] | likely benign | 19 | 41879282 | 41879282 | Human | 1 | name , alternate_id |
| 152138584 | CV1572298 | single nucleotide variant | NM_001783.4(CD79A):c.678G>A (p.Pro226=) | Agammaglobulinemia 3, autosomal recessive [RCV002219065] | likely benign | 19 | 41880977 | 41880977 | Human | 1 | name , alternate_id |
| 152173060 | CV1572714 | single nucleotide variant | NM_000626.4(CD79B):c.408C>T (p.Cys136=) | Agammaglobulinemia 6, autosomal recessive [RCV002162669] | likely benign | 17 | 63930096 | 63930096 | Human | 1 | name , alternate_id |
| 152063754 | CV1575232 | single nucleotide variant | NM_000626.4(CD79B):c.405C>T (p.Gly135=) | Agammaglobulinemia 6, autosomal recessive [RCV002110462] | likely benign | 17 | 63930099 | 63930099 | Human | 1 | name , alternate_id |
| 152171501 | CV1628353 | single nucleotide variant | NM_001783.4(CD79A):c.387C>T (p.Pro129=) | Agammaglobulinemia 3, autosomal recessive [RCV002183520] | likely benign | 19 | 41879542 | 41879542 | Human | 1 | name , alternate_id |
| 152113426 | CV1644628 | single nucleotide variant | NM_000626.4(CD79B):c.354C>T (p.Gly118=) | Agammaglobulinemia 6, autosomal recessive [RCV002174618] | likely benign | 17 | 63930150 | 63930150 | Human | 1 | name , alternate_id |
| 152039685 | CV1649049 | single nucleotide variant | NM_001783.4(CD79A):c.483G>A (p.Thr161=) | Agammaglobulinemia 3, autosomal recessive [RCV002206156] | likely benign | 19 | 41879638 | 41879638 | Human | 1 | name , alternate_id |
| 156360616 | CV1898898 | single nucleotide variant | NM_000626.4(CD79B):c.363C>T (p.Phe121=) | Agammaglobulinemia 6, autosomal recessive [RCV003091682] | likely benign | 17 | 63930141 | 63930141 | Human | 1 | name , alternate_id |
| 156409361 | CV1922636 | single nucleotide variant | NM_000626.4(CD79B):c.462G>A (p.Arg154=) | Agammaglobulinemia 6, autosomal recessive [RCV002607533] | likely benign | 17 | 63929857 | 63929857 | Human | 1 | name , alternate_id |
| 156066342 | CV1925945 | single nucleotide variant | NM_000626.4(CD79B):c.387C>T (p.Thr129=) | Agammaglobulinemia 6, autosomal recessive [RCV002621111] | likely benign | 17 | 63930117 | 63930117 | Human | 1 | name , alternate_id |
| 156363034 | CV1931874 | single nucleotide variant | NM_000626.4(CD79B):c.621T>C (p.Tyr207=) | Agammaglobulinemia 6, autosomal recessive [RCV002632809] | likely benign | 17 | 63929295 | 63929295 | Human | 1 | name , alternate_id |
| 156169744 | CV1956200 | single nucleotide variant | NM_000626.4(CD79B):c.672G>A (p.Glu224=) | Agammaglobulinemia 6, autosomal recessive [RCV002573775] | likely benign | 17 | 63929244 | 63929244 | Human | 1 | name , alternate_id |
| 156311259 | CV2000097 | single nucleotide variant | NM_001783.4(CD79A):c.384G>A (p.Pro128=) | Agammaglobulinemia 3, autosomal recessive [RCV002671649] | likely benign | 19 | 41879539 | 41879539 | Human | 1 | name , alternate_id |
| 156031219 | CV2001268 | single nucleotide variant | NM_000626.4(CD79B):c.501G>A (p.Leu167=) | Agammaglobulinemia 6, autosomal recessive [RCV002658667] | likely benign | 17 | 63929818 | 63929818 | Human | 1 | name , alternate_id |
| 155908828 | CV2017483 | single nucleotide variant | NM_000626.4(CD79B):c.94G>C (p.Glu32Gln) | Agammaglobulinemia 6, autosomal recessive [RCV002681565] | uncertain significance | 17 | 63931359 | 63931359 | Human | 1 | name , alternate_id |
| 156242790 | CV2043870 | single nucleotide variant | NM_001783.4(CD79A):c.357C>T (p.Cys119=) | Agammaglobulinemia 3, autosomal recessive [RCV002805736] | likely benign | 19 | 41879267 | 41879267 | Human | 1 | name , alternate_id |
| 156152818 | CV2049169 | single nucleotide variant | NM_000626.4(CD79B):c.480T>A (p.Gly160=) | Agammaglobulinemia 6, autosomal recessive [RCV002801348] | likely benign | 17 | 63929839 | 63929839 | Human | 1 | name , alternate_id |
| 156133922 | CV2097255 | single nucleotide variant | NM_001783.4(CD79A):c.427C>A (p.Arg143=) | Agammaglobulinemia 3, autosomal recessive [RCV002890052] | likely benign | 19 | 41879582 | 41879582 | Human | 1 | name , alternate_id |
| 156265232 | CV2100900 | single nucleotide variant | NM_000626.4(CD79B):c.669T>C (p.Gly223=) | Agammaglobulinemia 6, autosomal recessive [RCV002877413] | likely benign | 17 | 63929247 | 63929247 | Human | 1 | name , alternate_id |
| 156161297 | CV2371409 | single nucleotide variant | NM_001252.5(CD70):c.290G>A (p.Arg97His) | Inborn genetic diseases [RCV002698276] | uncertain significance | 19 | 6586312 | 6586312 | Human | 1 | name |
| 329384035 | CV2434944 | single nucleotide variant | NM_001252.5(CD70):c.103G>A (p.Val35Met) | Inborn genetic diseases [RCV003188932] | uncertain significance | 19 | 6590900 | 6590900 | Human | 1 | name |
| 401757860 | CV2708002 | single nucleotide variant | NM_001252.5(CD70):c.215G>A (p.Arg72Lys) | Inborn genetic diseases [RCV003256193] | uncertain significance | 19 | 6586387 | 6586387 | Human | 1 | name |
| 405058151 | CV2976414 | single nucleotide variant | NM_001783.4(CD79A):c.519G>A (p.Lys173=) | Agammaglobulinemia 3, autosomal recessive [RCV003631683] | likely benign | 19 | 41880690 | 41880690 | Human | 1 | name , alternate_id |
| 405058114 | CV2993494 | single nucleotide variant | NM_001783.4(CD79A):c.561T>G (p.Leu187=) | Agammaglobulinemia 3, autosomal recessive [RCV003631985] | likely benign | 19 | 41880732 | 41880732 | Human | 1 | name , alternate_id |
| 402506831 | CV3050009 | single nucleotide variant | NM_000626.4(CD79B):c.534C>T (p.Phe178=) | Agammaglobulinemia 6, autosomal recessive [RCV003628892] | likely benign | 17 | 63929785 | 63929785 | Human | 1 | name , alternate_id |
| 405176393 | CV3152340 | single nucleotide variant | NM_001783.4(CD79A):c.525G>T (p.Gly175=) | Agammaglobulinemia 3, autosomal recessive [RCV003858295] | likely benign | 19 | 41880696 | 41880696 | Human | 1 | name , alternate_id |
| 405772475 | CV3299857 | single nucleotide variant | NM_001252.5(CD70):c.260A>G (p.His87Arg) | Inborn genetic diseases [RCV004435529] | likely benign | 19 | 6586342 | 6586342 | Human | 1 | name |
| 405772510 | CV3299862 | single nucleotide variant | NM_001782.3(CD72):c.251G>T (p.Arg84Leu) | not specified [RCV004435534] | uncertain significance | 9 | 35617187 | 35617187 | Human | | name |
| 596926095 | CV3539735 | single nucleotide variant | NM_001252.5(CD70):c.248G>A (p.Arg83His) | not provided [RCV004790726] | uncertain significance | 19 | 6586354 | 6586354 | Human | | name |
| 597778714 | CV3648489 | single nucleotide variant | NM_001782.3(CD72):c.242C>T (p.Ala81Val) | not specified [RCV004899092] | uncertain significance | 9 | 35617196 | 35617196 | Human | | name |
| 597832369 | CV3751351 | single nucleotide variant | NM_000626.4(CD79B):c.687G>A (p.Glu229=) | Agammaglobulinemia 6, autosomal recessive [RCV005084897] | likely benign | 17 | 63929229 | 63929229 | Human | 1 | name , alternate_id |
| 597955577 | CV3754436 | single nucleotide variant | NM_001783.4(CD79A):c.490C>T (p.Leu164=) | Agammaglobulinemia 3, autosomal recessive [RCV005080286] | likely benign | 19 | 41879645 | 41879645 | Human | 1 | name , alternate_id |
| 597858786 | CV3769673 | single nucleotide variant | NM_000626.4(CD79B):c.588C>T (p.Tyr196=) | Agammaglobulinemia 6, autosomal recessive [RCV005105716] | likely benign | 17 | 63929437 | 63929437 | Human | 1 | name , alternate_id |
| 597887879 | CV3787644 | single nucleotide variant | NM_000626.4(CD79B):c.318C>A (p.Thr106=) | Agammaglobulinemia 6, autosomal recessive [RCV005125210] | likely benign | 17 | 63930186 | 63930186 | Human | 1 | name , alternate_id |
| 597958791 | CV3797374 | single nucleotide variant | NM_000626.4(CD79B):c.657G>A (p.Lys219=) | Agammaglobulinemia 6, autosomal recessive [RCV005138061] | likely benign | 17 | 63929259 | 63929259 | Human | 1 | name , alternate_id |
| 12896111 | CV390202 | single nucleotide variant | NM_000626.4(CD79B):c.366T>C (p.Cys122=) | Agammaglobulinemia 6, autosomal recessive [RCV001523215]|not provided [RCV001643145]|not specified [RCV000454896] | benign | 17 | 63930138 | 63930138 | Human | 2 | name , alternate_id |
| 617150083 | CV4021624 | deletion | NM_001252.5(CD70):c.554del (p.Phe185fs) | not provided [RCV005425593] | uncertain significance | 19 | 6586048 | 6586048 | Human | | name |
| 13465760 | CV468149 | single nucleotide variant | NM_000626.4(CD79B):c.312C>T (p.Leu104=) | Agammaglobulinemia 6, autosomal recessive [RCV000548339]|not provided [RCV004711168] | benign | 17 | 63930192 | 63930192 | Human | 1 | name , alternate_id |
| 13506541 | CV470263 | single nucleotide variant | NM_001783.4(CD79A):c.534C>T (p.Ala178=) | Agammaglobulinemia 3, autosomal recessive [RCV000576241] | likely benign | 19 | 41880705 | 41880705 | Human | 1 | name , alternate_id |
| 13621265 | CV531451 | single nucleotide variant | NM_000626.4(CD79B):c.381C>T (p.Asn127=) | Agammaglobulinemia 6, autosomal recessive [RCV000648113] | likely benign | 17 | 63930123 | 63930123 | Human | 1 | name , alternate_id |
| 14399114 | CV614442 | single nucleotide variant | NM_000626.4(CD79B):c.414A>G (p.Thr138=) | Agammaglobulinemia 6, autosomal recessive [RCV000768173] | uncertain significance | 17 | 63930090 | 63930090 | Human | 1 | name , alternate_id |
| 14742046 | CV648144 | single nucleotide variant | NM_001783.4(CD79A):c.64T>A (p.Ser22Thr) | Agammaglobulinemia 3, autosomal recessive [RCV000822533] | uncertain significance | 19 | 41877368 | 41877368 | Human | 1 | name , alternate_id |
| 15185652 | CV704283 | single nucleotide variant | NM_000626.4(CD79B):c.645A>G (p.Thr215=) | Agammaglobulinemia 6, autosomal recessive [RCV000953046] | likely benign | 17 | 63929271 | 63929271 | Human | 1 | name , alternate_id |
| 15180051 | CV741923 | single nucleotide variant | NM_001783.4(CD79A):c.375G>A (p.Val125=) | Agammaglobulinemia 3, autosomal recessive [RCV001483772] | likely benign | 19 | 41879285 | 41879285 | Human | 1 | name , alternate_id |
| 15147258 | CV741924 | single nucleotide variant | NM_001783.4(CD79A):c.513C>T (p.Asn171=) | Agammaglobulinemia 3, autosomal recessive [RCV000900481] | likely benign | 19 | 41880684 | 41880684 | Human | 1 | name , alternate_id |
| 15124613 | CV756022 | single nucleotide variant | NM_000626.4(CD79B):c.303C>T (p.Asn101=) | Agammaglobulinemia 6, autosomal recessive [RCV000919013] | likely benign | 17 | 63930201 | 63930201 | Human | 1 | name , alternate_id |
| 15127231 | CV757053 | single nucleotide variant | NM_001783.4(CD79A):c.459G>A (p.Leu153=) | not provided [RCV000919460] | likely benign | 19 | 41879614 | 41879614 | Human | | name |
| 15121771 | CV771717 | single nucleotide variant | NM_000626.4(CD79B):c.468G>A (p.Thr156=) | Agammaglobulinemia 6, autosomal recessive [RCV001454711] | likely benign | 17 | 63929851 | 63929851 | Human | 1 | name , alternate_id |
| 15185233 | CV772715 | single nucleotide variant | NM_001783.4(CD79A):c.312C>T (p.Tyr104=) | Agammaglobulinemia 3, autosomal recessive [RCV002544432]|not provided [RCV000931002] | likely benign | 19 | 41879222 | 41879222 | Human | 1 | name , alternate_id |
| 15184523 | CV772716 | single nucleotide variant | NM_001783.4(CD79A):c.336C>T (p.Asn112=) | Agammaglobulinemia 3, autosomal recessive [RCV000930829] | likely benign | 19 | 41879246 | 41879246 | Human | 1 | name , alternate_id |
| 15146634 | CV772717 | single nucleotide variant | NM_001783.4(CD79A):c.582C>T (p.Asp194=) | Agammaglobulinemia 3, autosomal recessive [RCV001396288]|not provided [RCV004704357] | likely benign | 19 | 41880881 | 41880881 | Human | 1 | name , alternate_id |
| 26913114 | CV845849 | single nucleotide variant | NM_000626.4(CD79B):c.47C>T (p.Ala16Val) | Agammaglobulinemia 6, autosomal recessive [RCV001054030] | uncertain significance | 17 | 63932215 | 63932215 | Human | 1 | name , alternate_id |
| 38497575 | CV958237 | single nucleotide variant | NM_000626.4(CD79B):c.92C>G (p.Ser31Trp) | Agammaglobulinemia 6, autosomal recessive [RCV001243256] | uncertain significance | 17 | 63931361 | 63931361 | Human | 1 | name , alternate_id |
| 126741704 | CV998623 | single nucleotide variant | NM_001783.4(CD79A):c.80G>T (p.Gly27Val) | Agammaglobulinemia 3, autosomal recessive [RCV001295939] | uncertain significance | 19 | 41878990 | 41878990 | Human | 1 | name , alternate_id |
| 126741024 | CV1013754 | single nucleotide variant | NM_001783.4(CD79A):c.137T>C (p.Leu46Pro) | Agammaglobulinemia 3, autosomal recessive [RCV001325286] | uncertain significance | 19 | 41879047 | 41879047 | Human | 1 | name , alternate_id |
| 126733768 | CV1013755 | single nucleotide variant | NM_001783.4(CD79A):c.182A>T (p.Asn61Ile) | Agammaglobulinemia 3, autosomal recessive [RCV001313454] | uncertain significance | 19 | 41879092 | 41879092 | Human | 1 | name , alternate_id |
| 126745193 | CV1033510 | single nucleotide variant | NM_000626.4(CD79B):c.131C>T (p.Ser44Leu) | Agammaglobulinemia 6, autosomal recessive [RCV001351377] | uncertain significance | 17 | 63930373 | 63930373 | Human | 1 | name , alternate_id |
| 126755556 | CV1034325 | single nucleotide variant | NM_001783.4(CD79A):c.128T>A (p.Met43Lys) | Agammaglobulinemia 3, autosomal recessive [RCV001339065] | uncertain significance | 19 | 41879038 | 41879038 | Human | 1 | name , alternate_id |
| 126759296 | CV1034326 | single nucleotide variant | NM_001783.4(CD79A):c.202C>T (p.Arg68Cys) | Agammaglobulinemia 3, autosomal recessive [RCV001340090] | uncertain significance | 19 | 41879112 | 41879112 | Human | 1 | name , alternate_id |
| 126915344 | CV1050491 | single nucleotide variant | NM_000626.4(CD79B):c.106C>T (p.Arg36Trp) | Agammaglobulinemia 6, autosomal recessive [RCV001359933] | uncertain significance | 17 | 63931347 | 63931347 | Human | 1 | name , alternate_id |
| 126922402 | CV1051334 | single nucleotide variant | NM_001783.4(CD79A):c.259C>T (p.Pro87Ser) | Agammaglobulinemia 3, autosomal recessive [RCV001364634] | uncertain significance | 19 | 41879169 | 41879169 | Human | 1 | name , alternate_id |
| 151810980 | CV1340864 | single nucleotide variant | NM_001783.4(CD79A):c.263A>G (p.Asn88Ser) | Agammaglobulinemia 3, autosomal recessive [RCV001974769] | uncertain significance | 19 | 41879173 | 41879173 | Human | 1 | name , alternate_id |
| 8687138 | CV137571 | single nucleotide variant | NM_001783.4(CD79A):c.258C>A (p.Asp86Glu) | Agammaglobulinemia 3, autosomal recessive [RCV000685379]|not specified [RCV000120484] | uncertain significance|not provided | 19 | 41879168 | 41879168 | Human | 1 | name , alternate_id |
| 8687144 | CV137577 | single nucleotide variant | NM_000626.4(CD79B):c.218A>C (p.Asn73Thr) | Agammaglobulinemia 6, autosomal recessive [RCV000792433]|not specified [RCV000120490] | uncertain significance|not provided | 17 | 63930286 | 63930286 | Human | 1 | name , alternate_id |
| 8687145 | CV137578 | single nucleotide variant | NM_000626.4(CD79B):c.179C>T (p.Thr60Met) | Agammaglobulinemia 6, autosomal recessive [RCV002517579]|not provided [RCV001508823]|not specified [RCV000120491] | uncertain significance|not provided | 17 | 63930325 | 63930325 | Human | 1 | name , alternate_id |
| 151714855 | CV1388777 | single nucleotide variant | NM_000626.4(CD79B):c.205A>G (p.Ser69Gly) | Agammaglobulinemia 6, autosomal recessive [RCV002002730] | uncertain significance | 17 | 63930299 | 63930299 | Human | 1 | name , alternate_id |
| 151889642 | CV1420294 | single nucleotide variant | NM_000626.4(CD79B):c.152G>A (p.Arg51His) | Agammaglobulinemia 6, autosomal recessive [RCV002001339] | uncertain significance | 17 | 63930352 | 63930352 | Human | 1 | name , alternate_id |
| 151783732 | CV1474304 | single nucleotide variant | NM_001783.4(CD79A):c.164C>T (p.Pro55Leu) | Agammaglobulinemia 3, autosomal recessive [RCV001875606]|not specified [RCV004041428] | likely benign|uncertain significance | 19 | 41879074 | 41879074 | Human | 1 | name , alternate_id |
| 156013397 | CV1880688 | single nucleotide variant | NM_001783.4(CD79A):c.190G>A (p.Val64Ile) | Agammaglobulinemia 3, autosomal recessive [RCV003077222] | uncertain significance | 19 | 41879100 | 41879100 | Human | 1 | name , alternate_id |
| 156271014 | CV1970943 | single nucleotide variant | NM_000626.4(CD79B):c.217A>G (p.Asn73Asp) | Agammaglobulinemia 6, autosomal recessive [RCV002598090] | uncertain significance | 17 | 63930287 | 63930287 | Human | 1 | name , alternate_id |
| 156393760 | CV1984256 | single nucleotide variant | NM_000626.4(CD79B):c.160G>A (p.Ala54Thr) | Agammaglobulinemia 6, autosomal recessive [RCV002635251] | uncertain significance | 17 | 63930344 | 63930344 | Human | 1 | name , alternate_id |
| 156116346 | CV1993958 | single nucleotide variant | NM_001783.4(CD79A):c.188A>T (p.Asn63Ile) | Agammaglobulinemia 3, autosomal recessive [RCV002662680] | uncertain significance | 19 | 41879098 | 41879098 | Human | 1 | name , alternate_id |
| 155913044 | CV2021799 | single nucleotide variant | NM_000626.4(CD79B):c.256C>A (p.Pro86Thr) | Agammaglobulinemia 6, autosomal recessive [RCV002726941] | uncertain significance | 17 | 63930248 | 63930248 | Human | 1 | name , alternate_id |
| 155994726 | CV2023516 | single nucleotide variant | NM_000626.4(CD79B):c.124G>A (p.Ala42Thr) | Agammaglobulinemia 6, autosomal recessive [RCV002755908] | uncertain significance | 17 | 63930380 | 63930380 | Human | 1 | name , alternate_id |
| 156335759 | CV2109277 | single nucleotide variant | NM_001783.4(CD79A):c.253G>A (p.Glu85Lys) | Agammaglobulinemia 3, autosomal recessive [RCV002938625] | uncertain significance | 19 | 41879163 | 41879163 | Human | 1 | name , alternate_id |
| 156380511 | CV2117951 | single nucleotide variant | NM_000626.4(CD79B):c.170G>C (p.Arg57Pro) | Agammaglobulinemia 6, autosomal recessive [RCV002943104] | uncertain significance | 17 | 63930334 | 63930334 | Human | 1 | name , alternate_id |
| 156298436 | CV2159427 | single nucleotide variant | NM_001783.4(CD79A):c.242T>C (p.Leu81Ser) | Agammaglobulinemia 3, autosomal recessive [RCV003045436] | uncertain significance | 19 | 41879152 | 41879152 | Human | 1 | name , alternate_id |
| 156250436 | CV2199731 | single nucleotide variant | NM_001252.5(CD70):c.388G>A (p.Val130Met) | Inborn genetic diseases [RCV002668347]|not provided [RCV004790403] | uncertain significance | 19 | 6586214 | 6586214 | Human | 1 | name |
| 155923670 | CV2212333 | single nucleotide variant | NM_001782.3(CD72):c.404C>A (p.Thr135Asn) | not specified [RCV004091281] | uncertain significance | 9 | 35616227 | 35616227 | Human | | name |
| 156340518 | CV2229505 | single nucleotide variant | NM_001782.3(CD72):c.592A>T (p.Thr198Ser) | not specified [RCV004103047] | uncertain significance | 9 | 35616039 | 35616039 | Human | | name |
| 156157741 | CV2235344 | single nucleotide variant | NM_001252.5(CD70):c.511C>T (p.Leu171Phe) | Inborn genetic diseases [RCV002787290] | uncertain significance | 19 | 6586091 | 6586091 | Human | 1 | name |
| 155924919 | CV2358235 | single nucleotide variant | NM_001252.5(CD70):c.353C>T (p.Thr118Met) | Inborn genetic diseases [RCV002992476] | uncertain significance | 19 | 6586249 | 6586249 | Human | 1 | name |
| 156256887 | CV2368792 | single nucleotide variant | NM_001782.3(CD72):c.584C>T (p.Thr195Met) | not specified [RCV004214668] | uncertain significance | 9 | 35616047 | 35616047 | Human | | name |
| 156387042 | CV2372614 | single nucleotide variant | NM_001782.3(CD72):c.679G>A (p.Gly227Ser) | not specified [RCV004221819] | likely benign | 9 | 35615952 | 35615952 | Human | | name |
| 156349059 | CV2376429 | single nucleotide variant | NM_001782.3(CD72):c.556C>G (p.Gln186Glu) | not specified [RCV004220612] | uncertain significance | 9 | 35616075 | 35616075 | Human | | name |
| 155963383 | CV2388389 | single nucleotide variant | NM_000626.4(CD79B):c.101G>A (p.Arg34Gln) | not specified [RCV004234838] | uncertain significance | 17 | 63931352 | 63931352 | Human | | name |
| 156055788 | CV2388701 | single nucleotide variant | NM_001782.3(CD72):c.940C>A (p.Gln314Lys) | not specified [RCV004239572] | uncertain significance | 9 | 35611814 | 35611814 | Human | | name |
| 329401089 | CV2446107 | single nucleotide variant | NM_001782.3(CD72):c.572A>G (p.Asp191Gly) | not specified [RCV004270661] | uncertain significance | 9 | 35616059 | 35616059 | Human | | name |
| 401740811 | CV2680484 | single nucleotide variant | NM_001782.3(CD72):c.437A>G (p.Lys146Arg) | not specified [RCV004291127] | uncertain significance | 9 | 35616194 | 35616194 | Human | | name |
| 401749238 | CV2693021 | single nucleotide variant | NM_001025159.3(CD74):c.26G>C (p.Cys9Ser) | not specified [RCV004308571] | uncertain significance | 5 | 150412724 | 150412724 | Human | | name |
| 401754268 | CV2726871 | single nucleotide variant | NM_001782.3(CD72):c.308C>T (p.Thr103Ile) | not specified [RCV004323165] | uncertain significance | 9 | 35616644 | 35616644 | Human | | name |
| 401768416 | CV2735298 | single nucleotide variant | NM_001782.3(CD72):c.532C>T (p.His178Tyr) | not specified [RCV004333964] | uncertain significance | 9 | 35616099 | 35616099 | Human | | name |
| 401883297 | CV2760883 | single nucleotide variant | NM_001782.3(CD72):c.544G>A (p.Glu182Lys) | not specified [RCV004336518] | uncertain significance | 9 | 35616087 | 35616087 | Human | | name |
| 401878831 | CV2770329 | single nucleotide variant | NM_001252.5(CD70):c.497C>T (p.Thr166Ile) | Inborn genetic diseases [RCV003384471] | uncertain significance | 19 | 6586105 | 6586105 | Human | 1 | name |
| 401895746 | CV2771011 | single nucleotide variant | NM_001252.5(CD70):c.574C>A (p.Arg192Ser) | Inborn genetic diseases [RCV003373233] | uncertain significance | 19 | 6586028 | 6586028 | Human | 1 | name |
| 401866374 | CV2782780 | single nucleotide variant | NM_001252.5(CD70):c.449G>T (p.Gly150Val) | Inborn genetic diseases [RCV003379598] | uncertain significance | 19 | 6586153 | 6586153 | Human | 1 | name |
| 8599966 | CV29842 | single nucleotide variant | NM_000626.4(CD79B):c.238C>T (p.Gln80Ter) | Agammaglobulinemia 6, autosomal recessive [RCV000015926] | pathogenic | 17 | 63930266 | 63930266 | Human | 1 | name , alternate_id |
| 405042930 | CV2994362 | single nucleotide variant | NM_000626.4(CD79B):c.245T>G (p.Met82Arg) | Agammaglobulinemia 6, autosomal recessive [RCV003630555] | uncertain significance | 17 | 63930259 | 63930259 | Human | 1 | name , alternate_id |
| 405772498 | CV3299860 | single nucleotide variant | NM_001252.5(CD70):c.352A>G (p.Thr118Ala) | Inborn genetic diseases [RCV004435532] | uncertain significance | 19 | 6586250 | 6586250 | Human | 1 | name |
| 405772527 | CV3299865 | single nucleotide variant | NM_001782.3(CD72):c.761G>T (p.Trp254Leu) | not specified [RCV004435537] | uncertain significance | 9 | 35612921 | 35612921 | Human | | name |
| 405772532 | CV3299866 | single nucleotide variant | NM_001782.3(CD72):c.970A>G (p.Lys324Glu) | not specified [RCV004435538] | uncertain significance | 9 | 35610734 | 35610734 | Human | | name |
| 405772537 | CV3299867 | single nucleotide variant | NM_001782.3(CD72):c.992C>T (p.Thr331Ile) | not specified [RCV004435539] | uncertain significance | 9 | 35610712 | 35610712 | Human | | name |
| 405772555 | CV3299870 | single nucleotide variant | NM_000626.4(CD79B):c.214G>A (p.Gly72Ser) | not specified [RCV004435542] | likely benign | 17 | 63930290 | 63930290 | Human | | name |
| 407454696 | CV3425008 | single nucleotide variant | NM_001252.5(CD70):c.377C>T (p.Thr126Ile) | Inborn genetic diseases [RCV004609946] | uncertain significance | 19 | 6586225 | 6586225 | Human | 1 | name |
| 407498847 | CV3425009 | single nucleotide variant | NM_001252.5(CD70):c.413G>A (p.Arg138His) | Inborn genetic diseases [RCV004606590] | likely benign | 19 | 6586189 | 6586189 | Human | 1 | name |
| 407498835 | CV3425014 | single nucleotide variant | NM_000626.4(CD79B):c.109A>C (p.Asn37His) | not specified [RCV004606594] | uncertain significance | 17 | 63931344 | 63931344 | Human | | name |
| 407498831 | CV3425015 | single nucleotide variant | NM_000626.4(CD79B):c.112C>T (p.Pro38Ser) | not specified [RCV004606595] | uncertain significance | 17 | 63931341 | 63931341 | Human | | name |
| 596926091 | CV3539734 | single nucleotide variant | NM_001252.5(CD70):c.356C>T (p.Thr119Met) | not provided [RCV004790725] | uncertain significance | 19 | 6586246 | 6586246 | Human | | name |
| 597631493 | CV3648488 | single nucleotide variant | NM_001252.5(CD70):c.320A>C (p.His107Pro) | Inborn genetic diseases [RCV004967724] | uncertain significance | 19 | 6586282 | 6586282 | Human | 1 | name |
| 597738858 | CV3648490 | single nucleotide variant | NM_001782.3(CD72):c.871G>T (p.Gly291Cys) | not specified [RCV004890206] | uncertain significance | 9 | 35611883 | 35611883 | Human | | name |
| 597778744 | CV3648500 | single nucleotide variant | NM_000626.4(CD79B):c.101G>C (p.Arg34Pro) | not specified [RCV004899100] | uncertain significance | 17 | 63931352 | 63931352 | Human | | name |
| 598207752 | CV3950830 | single nucleotide variant | NM_001252.5(CD70):c.349T>C (p.Ser117Pro) | Inborn genetic diseases [RCV005315339] | uncertain significance | 19 | 6586253 | 6586253 | Human | 1 | name |
| 598166664 | CV3950831 | single nucleotide variant | NM_001782.3(CD72):c.772C>A (p.Gln258Lys) | not specified [RCV005307924] | uncertain significance | 9 | 35612910 | 35612910 | Human | | name |
| 598229094 | CV3950832 | single nucleotide variant | NM_001782.3(CD72):c.667T>C (p.Phe223Leu) | not specified [RCV005319166] | likely benign | 9 | 35615964 | 35615964 | Human | | name |
| 598166671 | CV3950833 | single nucleotide variant | NM_001783.4(CD79A):c.257A>C (p.Asp86Ala) | not specified [RCV005307925] | uncertain significance | 19 | 41879167 | 41879167 | Human | | name |
| 13816982 | CV572530 | single nucleotide variant | NM_001783.4(CD79A):c.269C>T (p.Thr90Met) | Agammaglobulinemia 3, autosomal recessive [RCV000706721] | uncertain significance | 19 | 41879179 | 41879179 | Human | 1 | name , alternate_id |
| 13815605 | CV573150 | single nucleotide variant | NM_001783.4(CD79A):c.198G>A (p.Trp66Ter) | Agammaglobulinemia 3, autosomal recessive [RCV000691714] | pathogenic | 19 | 41879108 | 41879108 | Human | 1 | name , alternate_id |
| 13812879 | CV573151 | single nucleotide variant | NM_001783.4(CD79A):c.224C>A (p.Thr75Lys) | Agammaglobulinemia 3, autosomal recessive [RCV000689793] | uncertain significance | 19 | 41879134 | 41879134 | Human | 1 | name , alternate_id |
| 13808270 | CV574566 | single nucleotide variant | NM_000626.4(CD79B):c.250G>A (p.Glu84Lys) | Agammaglobulinemia 6, autosomal recessive [RCV000687195] | uncertain significance | 17 | 63930254 | 63930254 | Human | 1 | name , alternate_id |
| 14350126 | CV590634 | single nucleotide variant | NM_001252.5(CD70):c.535C>T (p.Arg179Ter) | Severe combined immunodeficiency due to CD70 deficiency [RCV000735975] | pathogenic | 19 | 6586067 | 6586067 | Human | 1 | name , trait |
| 14724714 | CV646387 | single nucleotide variant | NM_000626.4(CD79B):c.286A>G (p.Met96Val) | Agammaglobulinemia 6, autosomal recessive [RCV000798503] | uncertain significance | 17 | 63930218 | 63930218 | Human | 1 | name , alternate_id |
| 14716401 | CV646388 | single nucleotide variant | NM_000626.4(CD79B):c.208G>A (p.Ala70Thr) | Agammaglobulinemia 6, autosomal recessive [RCV000795110] | uncertain significance | 17 | 63930296 | 63930296 | Human | 1 | name , alternate_id |
| 14730563 | CV648145 | single nucleotide variant | NM_001783.4(CD79A):c.188A>G (p.Asn63Ser) | Agammaglobulinemia 3, autosomal recessive [RCV000801006]|not specified [RCV004887660] | uncertain significance | 19 | 41879098 | 41879098 | Human | 1 | name , alternate_id |
| 26905356 | CV845848 | single nucleotide variant | NM_000626.4(CD79B):c.272T>C (p.Leu91Pro) | Agammaglobulinemia 6, autosomal recessive [RCV001051254] | uncertain significance | 17 | 63930232 | 63930232 | Human | 1 | name , alternate_id |
| 26915052 | CV847730 | single nucleotide variant | NM_001783.4(CD79A):c.134G>C (p.Ser45Thr) | Agammaglobulinemia 3, autosomal recessive [RCV001041092] | uncertain significance | 19 | 41879044 | 41879044 | Human | 1 | name , alternate_id |
| 26903061 | CV847731 | single nucleotide variant | NM_001783.4(CD79A):c.184G>A (p.Ala62Thr) | Agammaglobulinemia 3, autosomal recessive [RCV001036083] | uncertain significance | 19 | 41879094 | 41879094 | Human | 1 | name , alternate_id |
| 26900282 | CV847732 | single nucleotide variant | NM_001783.4(CD79A):c.203G>A (p.Arg68His) | Agammaglobulinemia 3, autosomal recessive [RCV001035269]|not provided [RCV003413815] | likely benign|uncertain significance | 19 | 41879113 | 41879113 | Human | 1 | name , alternate_id |
| 26901911 | CV847733 | single nucleotide variant | NM_001783.4(CD79A):c.224C>T (p.Thr75Met) | Agammaglobulinemia 3, autosomal recessive [RCV001035807] | uncertain significance | 19 | 41879134 | 41879134 | Human | 1 | name , alternate_id |
| 126762391 | CV998624 | single nucleotide variant | NM_001783.4(CD79A):c.179A>G (p.Asn60Ser) | Agammaglobulinemia 3, autosomal recessive [RCV001300381]|not specified [RCV004897670] | uncertain significance | 19 | 41879089 | 41879089 | Human | 1 | name , alternate_id |
| 126760765 | CV1012961 | single nucleotide variant | NM_000626.4(CD79B):c.542T>A (p.Leu181Gln) | Agammaglobulinemia 6, autosomal recessive [RCV001318435] | uncertain significance | 17 | 63929777 | 63929777 | Human | 1 | name , alternate_id |
| 126766856 | CV1013756 | single nucleotide variant | NM_001783.4(CD79A):c.377G>A (p.Arg126His) | Agammaglobulinemia 3, autosomal recessive [RCV001320618] | uncertain significance | 19 | 41879287 | 41879287 | Human | 1 | name , alternate_id |
| 126752635 | CV1034327 | single nucleotide variant | NM_001783.4(CD79A):c.373G>A (p.Val125Met) | Agammaglobulinemia 3, autosomal recessive [RCV001338464]|not provided [RCV002261345] | uncertain significance | 19 | 41879283 | 41879283 | Human | 1 | name , alternate_id |
| 126909757 | CV1036911 | single nucleotide variant | NM_001783.4(CD79A):c.374T>G (p.Val125Gly) | Agammaglobulinemia 3, autosomal recessive [RCV001354050] | uncertain significance | 19 | 41879284 | 41879284 | Human | 1 | name , alternate_id |
| 126910810 | CV1051335 | single nucleotide variant | NM_001783.4(CD79A):c.523G>A (p.Gly175Arg) | Agammaglobulinemia 3, autosomal recessive [RCV001368933] | uncertain significance | 19 | 41880694 | 41880694 | Human | 1 | name , alternate_id |
| 126919834 | CV1051336 | single nucleotide variant | NM_001783.4(CD79A):c.653T>A (p.Ile218Lys) | Agammaglobulinemia 3, autosomal recessive [RCV001362520]|not specified [RCV004036839] | uncertain significance | 19 | 41880952 | 41880952 | Human | 1 | name , alternate_id |
| 126924130 | CV1051337 | single nucleotide variant | NM_001783.4(CD79A):c.677C>T (p.Pro226Leu) | Agammaglobulinemia 3, autosomal recessive [RCV001366670] | uncertain significance | 19 | 41880976 | 41880976 | Human | 1 | name , alternate_id |
| 151778096 | CV1337050 | single nucleotide variant | NM_000626.4(CD79B):c.389C>T (p.Ser130Leu) | Agammaglobulinemia 6, autosomal recessive [RCV002025995]|not specified [RCV004603138] | likely benign|uncertain significance | 17 | 63930115 | 63930115 | Human | 1 | name , alternate_id |
| 151856680 | CV1372722 | single nucleotide variant | NM_001783.4(CD79A):c.395C>T (p.Pro132Leu) | Agammaglobulinemia 3, autosomal recessive [RCV002033859] | uncertain significance | 19 | 41879550 | 41879550 | Human | 1 | name , alternate_id |
| 8687139 | CV137572 | single nucleotide variant | NM_001783.4(CD79A):c.320G>A (p.Arg107Gln) | Agammaglobulinemia 3, autosomal recessive [RCV001854604]|not specified [RCV000120485] | uncertain significance|not provided | 19 | 41879230 | 41879230 | Human | 1 | name , alternate_id |
| 8687140 | CV137573 | single nucleotide variant | NM_001783.4(CD79A):c.371G>A (p.Arg124His) | Agammaglobulinemia 3, autosomal recessive [RCV000704625]|not provided [RCV002288609]|not specified [RCV000120486] | uncertain significance|not provided | 19 | 41879281 | 41879281 | Human | 1 | name , alternate_id |
| 8687141 | CV137574 | single nucleotide variant | NM_001783.4(CD79A):c.419C>A (p.Thr140Asn) | Agammaglobulinemia 3, autosomal recessive [RCV000576287]|not provided [RCV001528854]|not specified [RCV000120487] | likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided | 19 | 41879574 | 41879574 | Human | 1 | name , alternate_id |
| 8687142 | CV137575 | single nucleotide variant | NM_001783.4(CD79A):c.643A>G (p.Ser215Gly) | Agammaglobulinemia 3, autosomal recessive [RCV001854605]|not specified [RCV000120488] | uncertain significance|not provided | 19 | 41880942 | 41880942 | Human | 1 | name , alternate_id |
| 8687143 | CV137576 | single nucleotide variant | NM_001783.4(CD79A):c.593T>C (p.Met198Thr) | Agammaglobulinemia 3, autosomal recessive [RCV000648340]|not specified [RCV000120489] | uncertain significance|not provided | 19 | 41880892 | 41880892 | Human | 1 | name , alternate_id |
| 8687146 | CV137579 | single nucleotide variant | NM_000626.4(CD79B):c.497C>T (p.Thr166Met) | Agammaglobulinemia 6, autosomal recessive [RCV001854606]|not specified [RCV000120492] | uncertain significance|not provided | 17 | 63929822 | 63929822 | Human | 1 | name , alternate_id |
| 151801209 | CV1378737 | single nucleotide variant | NM_001783.4(CD79A):c.466G>A (p.Ala156Thr) | Agammaglobulinemia 3, autosomal recessive [RCV001877389] | uncertain significance | 19 | 41879621 | 41879621 | Human | 1 | name , alternate_id |
| 151777538 | CV1381975 | single nucleotide variant | NM_001783.4(CD79A):c.610C>G (p.Arg204Gly) | Agammaglobulinemia 3, autosomal recessive [RCV001950752] | uncertain significance | 19 | 41880909 | 41880909 | Human | 1 | name , alternate_id |
| 151751281 | CV1385321 | single nucleotide variant | NM_001783.4(CD79A):c.310T>C (p.Tyr104His) | Agammaglobulinemia 3, autosomal recessive [RCV001969212] | uncertain significance | 19 | 41879220 | 41879220 | Human | 1 | name , alternate_id |
| 151799621 | CV1403904 | single nucleotide variant | NM_001783.4(CD79A):c.498G>C (p.Arg166Ser) | Agammaglobulinemia 3, autosomal recessive [RCV001973786] | uncertain significance | 19 | 41879653 | 41879653 | Human | 1 | name , alternate_id |
| 151853267 | CV1406928 | single nucleotide variant | NM_001783.4(CD79A):c.611G>A (p.Arg204Gln) | Agammaglobulinemia 3, autosomal recessive [RCV002033452]|not specified [RCV004045216] | uncertain significance | 19 | 41880910 | 41880910 | Human | 1 | name , alternate_id |
| 151667487 | CV1414410 | single nucleotide variant | NM_001783.4(CD79A):c.469G>A (p.Val157Met) | Agammaglobulinemia 3, autosomal recessive [RCV001870604] | uncertain significance | 19 | 41879624 | 41879624 | Human | 1 | name , alternate_id |
| 151832995 | CV1456131 | single nucleotide variant | NM_001783.4(CD79A):c.650A>T (p.Asn217Ile) | Agammaglobulinemia 3, autosomal recessive [RCV002050907] | uncertain significance | 19 | 41880949 | 41880949 | Human | 1 | name , alternate_id |
| 151795821 | CV1471101 | single nucleotide variant | NM_000626.4(CD79B):c.379A>G (p.Asn127Asp) | Agammaglobulinemia 6, autosomal recessive [RCV001952470] | uncertain significance | 17 | 63930125 | 63930125 | Human | 1 | name , alternate_id |
| 151777733 | CV1472211 | single nucleotide variant | NM_000626.4(CD79B):c.329A>G (p.Gln110Arg) | Agammaglobulinemia 6, autosomal recessive [RCV002045844] | uncertain significance | 17 | 63930175 | 63930175 | Human | 1 | name , alternate_id |
| 151866288 | CV1472446 | single nucleotide variant | NM_000626.4(CD79B):c.467C>T (p.Thr156Met) | Agammaglobulinemia 6, autosomal recessive [RCV002018386] | uncertain significance | 17 | 63929852 | 63929852 | Human | 1 | name , alternate_id |
| 151783603 | CV1474455 | single nucleotide variant | NM_000626.4(CD79B):c.304G>A (p.Glu102Lys) | Agammaglobulinemia 6, autosomal recessive [RCV001930669] | uncertain significance | 17 | 63930200 | 63930200 | Human | 1 | name , alternate_id |
| 151807703 | CV1483382 | single nucleotide variant | NM_000626.4(CD79B):c.679G>A (p.Gly227Ser) | Agammaglobulinemia 6, autosomal recessive [RCV001918303] | uncertain significance | 17 | 63929237 | 63929237 | Human | 1 | name , alternate_id |
| 151819676 | CV1488378 | single nucleotide variant | NM_001783.4(CD79A):c.358G>A (p.Gly120Ser) | Agammaglobulinemia 3, autosomal recessive [RCV001975606] | uncertain significance | 19 | 41879268 | 41879268 | Human | 1 | name , alternate_id |
| 151708893 | CV1495231 | single nucleotide variant | NM_000626.4(CD79B):c.552T>A (p.Asp184Glu) | Agammaglobulinemia 6, autosomal recessive [RCV002001547] | uncertain significance | 17 | 63929473 | 63929473 | Human | 1 | name , alternate_id |
| 151745173 | CV1507591 | single nucleotide variant | NM_000626.4(CD79B):c.664G>A (p.Val222Ile) | Agammaglobulinemia 6, autosomal recessive [RCV001985650] | uncertain significance | 17 | 63929252 | 63929252 | Human | 1 | name , alternate_id |
| 156376026 | CV1868815 | single nucleotide variant | NM_000626.4(CD79B):c.362T>G (p.Phe121Cys) | Agammaglobulinemia 6, autosomal recessive [RCV003066733] | uncertain significance | 17 | 63930142 | 63930142 | Human | 1 | name , alternate_id |
| 156403823 | CV1871917 | single nucleotide variant | NM_000626.4(CD79B):c.429G>A (p.Met143Ile) | Agammaglobulinemia 6, autosomal recessive [RCV003052693] | uncertain significance | 17 | 63930075 | 63930075 | Human | 1 | name , alternate_id |
| 156034857 | CV1890085 | single nucleotide variant | NM_001783.4(CD79A):c.394C>A (p.Pro132Thr) | Agammaglobulinemia 3, autosomal recessive [RCV003078272] | uncertain significance | 19 | 41879549 | 41879549 | Human | 1 | name , alternate_id |
| 156359418 | CV1908312 | single nucleotide variant | NM_001783.4(CD79A):c.428G>A (p.Arg143Gln) | Agammaglobulinemia 3, autosomal recessive [RCV002602391] | uncertain significance | 19 | 41879583 | 41879583 | Human | 1 | name , alternate_id |
| 156193638 | CV1994784 | single nucleotide variant | NM_001783.4(CD79A):c.416G>A (p.Gly139Asp) | Agammaglobulinemia 3, autosomal recessive [RCV002643390] | uncertain significance | 19 | 41879571 | 41879571 | Human | 1 | name , alternate_id |
| 156011644 | CV2011511 | single nucleotide variant | NM_001783.4(CD79A):c.335A>G (p.Asn112Ser) | Agammaglobulinemia 3, autosomal recessive [RCV002690546] | uncertain significance | 19 | 41879245 | 41879245 | Human | 1 | name , alternate_id |
| 155903402 | CV2031246 | single nucleotide variant | NM_000626.4(CD79B):c.299A>G (p.Gln100Arg) | Agammaglobulinemia 6, autosomal recessive [RCV002726323] | uncertain significance | 17 | 63930205 | 63930205 | Human | 1 | name , alternate_id |
| 156024155 | CV2043364 | single nucleotide variant | NM_001783.4(CD79A):c.664C>T (p.Gln222Ter) | Agammaglobulinemia 3, autosomal recessive [RCV002780806] | uncertain significance | 19 | 41880963 | 41880963 | Human | 1 | name , alternate_id |
| 156273068 | CV2046217 | single nucleotide variant | NM_000626.4(CD79B):c.571G>C (p.Glu191Gln) | Agammaglobulinemia 6, autosomal recessive [RCV002770113] | uncertain significance | 17 | 63929454 | 63929454 | Human | 1 | name , alternate_id |
| 156293608 | CV2047351 | single nucleotide variant | NM_000626.4(CD79B):c.641G>A (p.Arg214Gln) | Agammaglobulinemia 6, autosomal recessive [RCV002770872] | uncertain significance | 17 | 63929275 | 63929275 | Human | 1 | name , alternate_id |
| 156165147 | CV2137079 | single nucleotide variant | NM_001783.4(CD79A):c.493T>C (p.Phe165Leu) | Agammaglobulinemia 3, autosomal recessive [RCV003005210] | uncertain significance | 19 | 41879648 | 41879648 | Human | 1 | name , alternate_id |
| 155911138 | CV2153196 | single nucleotide variant | NM_000626.4(CD79B):c.584C>G (p.Thr195Ser) | Agammaglobulinemia 6, autosomal recessive [RCV003012260] | uncertain significance | 17 | 63929441 | 63929441 | Human | 1 | name , alternate_id |
| 156316233 | CV2169144 | single nucleotide variant | NM_001783.4(CD79A):c.514G>A (p.Glu172Lys) | Agammaglobulinemia 3, autosomal recessive [RCV003028877] | uncertain significance | 19 | 41880685 | 41880685 | Human | 1 | name , alternate_id |
| 156338323 | CV2178381 | single nucleotide variant | NM_001783.4(CD79A):c.338A>G (p.Glu113Gly) | Agammaglobulinemia 3, autosomal recessive [RCV003047602] | uncertain significance | 19 | 41879248 | 41879248 | Human | 1 | name , alternate_id |
| 155990823 | CV2276513 | single nucleotide variant | NM_000626.4(CD79B):c.664G>C (p.Val222Leu) | not specified [RCV004144226] | uncertain significance | 17 | 63929252 | 63929252 | Human | | name |
| 156257578 | CV2322075 | single nucleotide variant | NM_001783.4(CD79A):c.613G>A (p.Gly205Ser) | not specified [RCV004173818] | uncertain significance | 19 | 41880912 | 41880912 | Human | | name |
| 329369467 | CV2461122 | single nucleotide variant | NM_000626.4(CD79B):c.317C>T (p.Thr106Ile) | not specified [RCV004265545] | uncertain significance | 17 | 63930187 | 63930187 | Human | | name |
| 401751097 | CV2738931 | single nucleotide variant | NM_000626.4(CD79B):c.586T>C (p.Tyr196His) | Malignant lymphoma, large B-cell, diffuse [RCV003318324] | likely pathogenic | 17 | 63929439 | 63929439 | Human | 1 | name |
| 401893143 | CV2755875 | single nucleotide variant | NM_001782.3(CD72):c.1009C>G (p.Leu337Val) | not specified [RCV004335968] | uncertain significance | 9 | 35610695 | 35610695 | Human | | name |
| 401883247 | CV2785605 | single nucleotide variant | NM_000626.4(CD79B):c.484A>G (p.Ile162Val) | not specified [RCV004363112] | uncertain significance | 17 | 63929835 | 63929835 | Human | | name |
| 401894584 | CV2788125 | single nucleotide variant | NM_001783.4(CD79A):c.641G>C (p.Gly214Ala) | not specified [RCV004352747] | uncertain significance | 19 | 41880940 | 41880940 | Human | | name |
| 405031508 | CV2915232 | single nucleotide variant | NM_001783.4(CD79A):c.503G>A (p.Arg168Gln) | Agammaglobulinemia 3, autosomal recessive [RCV003516875] | uncertain significance | 19 | 41880674 | 41880674 | Human | 1 | name , alternate_id |
| 8599965 | CV29841 | single nucleotide variant | NM_000626.4(CD79B):c.409G>A (p.Gly137Ser) | Agammaglobulinemia 6, autosomal recessive [RCV000015925] | pathogenic | 17 | 63930095 | 63930095 | Human | 1 | name , alternate_id |
| 405068874 | CV3081533 | single nucleotide variant | NM_001783.4(CD79A):c.576C>A (p.Asn192Lys) | Agammaglobulinemia 3, autosomal recessive [RCV003632978] | uncertain significance | 19 | 41880875 | 41880875 | Human | 1 | name , alternate_id |
| 405772561 | CV3299871 | single nucleotide variant | NM_000626.4(CD79B):c.589G>C (p.Glu197Gln) | not specified [RCV004435543] | uncertain significance | 17 | 63929436 | 63929436 | Human | | name |
| 407498844 | CV3425010 | single nucleotide variant | NM_001782.3(CD72):c.1075G>C (p.Asp359His) | not specified [RCV004606591] | uncertain significance | 9 | 35610629 | 35610629 | Human | | name |
| 597738868 | CV3648497 | single nucleotide variant | NM_001025159.3(CD74):c.29G>A (p.Arg10Gln) | not specified [RCV004890208] | likely benign | 5 | 150412721 | 150412721 | Human | | name |
| 597876938 | CV3860194 | single nucleotide variant | NM_000626.4(CD79B):c.562G>C (p.Ala188Pro) | Agammaglobulinemia 6, autosomal recessive [RCV005198403] | uncertain significance | 17 | 63929463 | 63929463 | Human | 1 | name , alternate_id |
| 13436105 | CV433403 | single nucleotide variant | NM_001783.4(CD79A):c.452T>C (p.Ile151Thr) | Agammaglobulinemia 3, autosomal recessive [RCV001065347]|not specified [RCV000506577] | uncertain significance | 19 | 41879607 | 41879607 | Human | 1 | name , alternate_id |
| 13488534 | CV446138 | single nucleotide variant | NM_001783.4(CD79A):c.370C>T (p.Arg124Cys) | Agammaglobulinemia 3, autosomal recessive [RCV000817060]|not provided [RCV000523593] | uncertain significance | 19 | 41879280 | 41879280 | Human | 1 | name , alternate_id |
| 13820933 | CV569477 | single nucleotide variant | NM_000626.4(CD79B):c.422G>A (p.Arg141Gln) | Agammaglobulinemia 6, autosomal recessive [RCV000695201] | uncertain significance | 17 | 63930082 | 63930082 | Human | 1 | name , alternate_id |
| 13806772 | CV570810 | single nucleotide variant | NM_001783.4(CD79A):c.502C>G (p.Arg168Gly) | Agammaglobulinemia 3, autosomal recessive [RCV000700732] | uncertain significance | 19 | 41880673 | 41880673 | Human | 1 | name , alternate_id |
| 13804254 | CV572001 | single nucleotide variant | NM_000626.4(CD79B):c.323C>T (p.Thr108Ile) | Agammaglobulinemia 6, autosomal recessive [RCV000685183] | uncertain significance | 17 | 63930181 | 63930181 | Human | 1 | name , alternate_id |
| 13827605 | CV578566 | single nucleotide variant | NM_001783.4(CD79A):c.419C>T (p.Thr140Ile) | Agammaglobulinemia 3, autosomal recessive [RCV001862005]|Autosomal recessive agammaglobulinemia 1 [RCV000714760] | uncertain significance | 19 | 41879574 | 41879574 | Human | 2 | name , alternate_id |
| 14720879 | CV646384 | single nucleotide variant | NM_000626.4(CD79B):c.635C>T (p.Thr212Met) | Agammaglobulinemia 6, autosomal recessive [RCV000796857] | uncertain significance | 17 | 63929281 | 63929281 | Human | 1 | name , alternate_id |
| 14723377 | CV646386 | single nucleotide variant | NM_000626.4(CD79B):c.338G>A (p.Arg113Gln) | Agammaglobulinemia 6, autosomal recessive [RCV000797927]|not specified [RCV004027938] | likely benign|uncertain significance | 17 | 63930166 | 63930166 | Human | 1 | name , alternate_id |
| 15136850 | CV757052 | single nucleotide variant | NM_001783.4(CD79A):c.301G>A (p.Gly101Arg) | Agammaglobulinemia 3, autosomal recessive [RCV001419356] | likely benign | 19 | 41879211 | 41879211 | Human | 1 | name , alternate_id |
| 25327502 | CV815938 | single nucleotide variant | NM_001783.4(CD79A):c.323T>G (p.Val108Gly) | Inherited Immunodeficiency Diseases [RCV001027560] | pathogenic | 19 | 41879233 | 41879233 | Human | 1 | name |
| 26909066 | CV845847 | single nucleotide variant | NM_000626.4(CD79B):c.547A>G (p.Lys183Glu) | Agammaglobulinemia 6, autosomal recessive [RCV001038438] | uncertain significance | 17 | 63929772 | 63929772 | Human | 1 | name , alternate_id |
| 26887149 | CV847734 | single nucleotide variant | NM_001783.4(CD79A):c.309A>G (p.Ile103Met) | Agammaglobulinemia 3, autosomal recessive [RCV001044692]|not specified [RCV004887664] | likely benign|uncertain significance | 19 | 41879219 | 41879219 | Human | 1 | name , alternate_id |
| 26919421 | CV847735 | single nucleotide variant | NM_001783.4(CD79A):c.313G>A (p.Val105Met) | Agammaglobulinemia 3, autosomal recessive [RCV001058956]|not specified [RCV004031858] | uncertain significance | 19 | 41879223 | 41879223 | Human | 1 | name , alternate_id |
| 26902015 | CV847736 | single nucleotide variant | NM_001783.4(CD79A):c.442G>A (p.Glu148Lys) | Agammaglobulinemia 3, autosomal recessive [RCV001035847] | uncertain significance | 19 | 41879597 | 41879597 | Human | 1 | name , alternate_id |
| 26901770 | CV847737 | single nucleotide variant | NM_001783.4(CD79A):c.535G>A (p.Gly179Arg) | Agammaglobulinemia 3, autosomal recessive [RCV001035760] | uncertain significance | 19 | 41880706 | 41880706 | Human | 1 | name , alternate_id |
| 26887426 | CV847738 | single nucleotide variant | NM_001783.4(CD79A):c.677C>A (p.Pro226Gln) | Agammaglobulinemia 3, autosomal recessive [RCV001066667] | uncertain significance | 19 | 41880976 | 41880976 | Human | 1 | name , alternate_id |
| 38477933 | CV928438 | single nucleotide variant | NM_000626.4(CD79B):c.557G>A (p.Ser186Asn) | Agammaglobulinemia 6, autosomal recessive [RCV001216378] | uncertain significance | 17 | 63929468 | 63929468 | Human | 1 | name , alternate_id |
| 38482004 | CV938705 | single nucleotide variant | NM_001783.4(CD79A):c.341C>T (p.Ser114Leu) | Agammaglobulinemia 3, autosomal recessive [RCV001207083] | uncertain significance | 19 | 41879251 | 41879251 | Human | 1 | name , alternate_id |
| 38467540 | CV938706 | single nucleotide variant | NM_001783.4(CD79A):c.467C>T (p.Ala156Val) | Agammaglobulinemia 3, autosomal recessive [RCV001212967] | uncertain significance | 19 | 41879622 | 41879622 | Human | 1 | name , alternate_id |
| 38498419 | CV950134 | single nucleotide variant | NM_000626.4(CD79B):c.646G>C (p.Gly216Arg) | Agammaglobulinemia 6, autosomal recessive [RCV001227745]|not specified [RCV004032613] | uncertain significance | 17 | 63929270 | 63929270 | Human | 1 | name , alternate_id |
| 38496348 | CV950808 | single nucleotide variant | NM_001783.4(CD79A):c.583G>A (p.Asp195Asn) | Agammaglobulinemia 3, autosomal recessive [RCV001226334] | uncertain significance | 19 | 41880882 | 41880882 | Human | 1 | name , alternate_id |
| 126766256 | CV997776 | single nucleotide variant | NM_000626.4(CD79B):c.341T>G (p.Phe114Cys) | Agammaglobulinemia 6, autosomal recessive [RCV001301812] | uncertain significance | 17 | 63930163 | 63930163 | Human | 1 | name , alternate_id |
| 126765036 | CV1033511 | microsatellite | NM_000626.4(CD79B):c.93GGA[1] (p.Glu32del) | Agammaglobulinemia 6, autosomal recessive [RCV001341880] | uncertain significance | 17 | 63931355 | 63931357 | Human | | name , alternate_id |
| 156000135 | CV2396536 | single nucleotide variant | NM_001025159.3(CD74):c.103C>G (p.Arg35Gly) | not specified [RCV004242243] | uncertain significance | 5 | 150412647 | 150412647 | Human | | name |
| 401783503 | CV2723642 | single nucleotide variant | NM_001025159.3(CD74):c.187G>A (p.Gly63Ser) | not specified [RCV004325820] | uncertain significance | 5 | 150407263 | 150407263 | Human | | name |
| 405772543 | CV3299868 | single nucleotide variant | NM_001025159.3(CD74):c.119C>T (p.Pro40Leu) | not specified [RCV004435540] | uncertain significance | 5 | 150412631 | 150412631 | Human | | name |
| 405772549 | CV3299869 | single nucleotide variant | NM_001025159.3(CD74):c.137G>A (p.Arg46His) | not specified [RCV004435541] | uncertain significance | 5 | 150407313 | 150407313 | Human | | name |
| 597778726 | CV3648493 | single nucleotide variant | NM_001025159.3(CD74):c.229C>T (p.Arg77Trp) | not specified [RCV004899095] | uncertain significance | 5 | 150407221 | 150407221 | Human | | name |
| 156128357 | CV2223914 | single nucleotide variant | NM_001025159.3(CD74):c.841T>C (p.Ser281Pro) | not specified [RCV004093909] | uncertain significance | 5 | 150402602 | 150402602 | Human | | name |
| 156290134 | CV2324878 | single nucleotide variant | NM_001025159.3(CD74):c.620C>T (p.Pro207Leu) | not specified [RCV004175147] | uncertain significance | 5 | 150404685 | 150404685 | Human | | name |
| 156069313 | CV2355792 | single nucleotide variant | NM_001025159.3(CD74):c.631A>C (p.Thr211Pro) | not specified [RCV004201195] | uncertain significance | 5 | 150403307 | 150403307 | Human | | name |
| 407498841 | CV3425011 | single nucleotide variant | NM_001025159.3(CD74):c.374A>G (p.Gln125Arg) | not specified [RCV004606592] | uncertain significance | 5 | 150406885 | 150406885 | Human | | name |
| 407498838 | CV3425012 | single nucleotide variant | NM_001025159.3(CD74):c.845C>A (p.Ser282Tyr) | not specified [RCV004606593] | uncertain significance | 5 | 150402598 | 150402598 | Human | | name |
| 597778728 | CV3648494 | single nucleotide variant | NM_001025159.3(CD74):c.674C>T (p.Pro225Leu) | not specified [RCV004899096] | uncertain significance | 5 | 150403264 | 150403264 | Human | | name |
| 597778734 | CV3648495 | single nucleotide variant | NM_001025159.3(CD74):c.325A>C (p.Met109Leu) | not specified [RCV004899097] | uncertain significance | 5 | 150406934 | 150406934 | Human | | name |
| 597738863 | CV3648496 | single nucleotide variant | NM_001025159.3(CD74):c.323G>A (p.Arg108His) | not specified [RCV004890207] | uncertain significance | 5 | 150406936 | 150406936 | Human | | name |
| 597778738 | CV3648498 | single nucleotide variant | NM_001025159.3(CD74):c.310G>C (p.Val104Leu) | not specified [RCV004899098] | likely benign | 5 | 150406949 | 150406949 | Human | | name |
| 14350129 | CV590636 | microsatellite | NM_001252.5(CD70):c.552CTT[1] (p.Phe186del) | Severe combined immunodeficiency due to CD70 deficiency [RCV000735977] | pathogenic | 19 | 6586045 | 6586047 | Human | | name , trait |
| 405050329 | CV1033509 | deletion | NM_000626.4(CD79B):c.364_366del (p.Cys122del) | Agammaglobulinemia 6, autosomal recessive [RCV003518856] | uncertain significance | 17 | 63930138 | 63930140 | Human | 1 | name , alternate_id |
| 126736269 | CV1020299 | single nucleotide variant | NM_002526.4(NT5E):c.1055C>A (p.Ser352Ter) | Calcification of joints and arteries [RCV001335042] | pathogenic | 6 | 85487440 | 85487440 | Human | | alternate_id |
| 150335139 | CV1164296 | single nucleotide variant | NM_002526.4(NT5E):c.1126A>G (p.Thr376Ala) | Hereditary arterial and articular multiple calcification syndrome [RCV001788579]|not specified [RCV001530115] | benign | 6 | 85489515 | 85489515 | Human | 1 | alternate_id |
| 150332512 | CV1164297 | single nucleotide variant | NM_002526.4(NT5E):c.1210+12G>C | Hereditary arterial and articular multiple calcification syndrome [RCV001788577]|not specified [RCV001528336] | benign | 6 | 85489611 | 85489611 | Human | 1 | alternate_id |
| 404977521 | CV2850663 | single nucleotide variant | NM_002526.4(NT5E):c.965C>T (p.Ala322Val) | Hereditary arterial and articular multiple calcification syndrome [RCV003486176] | uncertain significance | 6 | 85487350 | 85487350 | Human | 1 | alternate_id |
| 8601991 | CV38642 | single nucleotide variant | NM_002526.4(NT5E):c.662C>A (p.Ser221Ter) | Hereditary arterial and articular multiple calcification syndrome [RCV000022533] | pathogenic | 6 | 85471336 | 85471336 | Human | 1 | alternate_id |
| 8601992 | CV38643 | single nucleotide variant | NM_002526.4(NT5E):c.1073G>A (p.Cys358Tyr) | Hereditary arterial and articular multiple calcification syndrome [RCV000022534] | pathogenic | 6 | 85487458 | 85487458 | Human | 1 | alternate_id |
| 8567851 | CV38644 | duplication | NM_002526.4(NT5E):c.1608dup (p.Val537fs) | Hereditary arterial and articular multiple calcification syndrome [RCV000022535]|NT5E-related disorder [RCV004549385] | pathogenic|likely pathogenic | 6 | 85493884 | 85493885 | Human | 1 | alternate_id |
| 15130321 | CV710630 | single nucleotide variant | NM_002526.4(NT5E):c.832G>A (p.Val278Ile) | Hereditary arterial and articular multiple calcification syndrome [RCV003132129]|NT5E-related disorder [RCV004553455]|not provided [RCV000964415] | likely benign|uncertain significance | 6 | 85485315 | 85485315 | Human | 1 | alternate_id |
| 151855474 | CV1473842 | indel | NM_000626.4(CD79B):c.563_564delinsGG (p.Ala188Gly) | Agammaglobulinemia 6, autosomal recessive [RCV001904633] | uncertain significance | 17 | 63929461 | 63929462 | Human | | name , alternate_id |
| 155692984 | CV1775277 | indel | NM_001783.4(CD79A):c.466_467delinsTT (p.Ala156Leu) | Agammaglobulinemia 3, autosomal recessive [RCV002299415] | uncertain significance | 19 | 41879621 | 41879622 | Human | | name , alternate_id |
| 156109188 | CV1996902 | indel | NM_001783.4(CD79A):c.463_464delinsCT (p.Cys155Leu) | Agammaglobulinemia 3, autosomal recessive [RCV002662420] | uncertain significance | 19 | 41879618 | 41879619 | Human | | name , alternate_id |
| 14732981 | CV646385 | indel | NM_000626.4(CD79B):c.362_366delinsGC (p.Phe121del) | Agammaglobulinemia 6, autosomal recessive [RCV000818520] | uncertain significance | 17 | 63930138 | 63930142 | Human | | name , alternate_id |
| 156437925 | CV1939394 | duplication | NC_000019.9:g.(?_42363988)_(42385047_?)dup | Agammaglobulinemia 3, autosomal recessive [RCV003107468] | uncertain significance | | | | Human | 1 | alternate_id |
| 156132307 | CV2182218 | deletion | NC_000019.10:g.41878996_41879009del | Agammaglobulinemia 3, autosomal recessive [RCV003055884] | pathogenic | 19 | 41878987 | 41879000 | Human | 1 | alternate_id |