| 8631626 | CV86830 | single nucleotide variant | NM_001243093.1(FYB):c.2232G>A (p.Gln744=) | Malignant melanoma [RCV000066921] | not provided | 5 | 39119571 | 39119571 | Human | | name |
| 8631625 | CV86829 | single nucleotide variant | NM_001243093.1(FYB):c.2233G>A (p.Glu745Lys) | Malignant melanoma [RCV000066920] | not provided | 5 | 39119570 | 39119570 | Human | | name |
| 408367397 | CV3511817 | single nucleotide variant | NM_001465.6(FYB1):c.-15G>C | FYB1-related disorder [RCV004758428] | likely benign | 5 | 39202975 | 39202975 | Human | | name , trait , alternate_id |
| 150335200 | CV1171425 | single nucleotide variant | NM_001465.6(FYB1):c.*192A>T | not provided [RCV001540454] | benign | 5 | 39107251 | 39107251 | Human | | name |
| 405293314 | CV3207383 | single nucleotide variant | NM_001465.6(FYB1):c.1516-5T>C | FYB1-related disorder [RCV003931765] | likely benign | 5 | 39135019 | 39135019 | Human | | name , trait , alternate_id |
| 15099625 | CV777499 | single nucleotide variant | NM_001465.6(FYB1):c.1135+8C>A | not provided [RCV000958789]|not specified [RCV003151238] | benign|likely benign | 5 | 39201818 | 39201818 | Human | | name |
| 150469862 | CV1219144 | single nucleotide variant | NM_001465.6(FYB1):c.2467+24T>C | not provided [RCV001614896] | benign | 5 | 39108207 | 39108207 | Human | | name |
| 150499762 | CV1224650 | single nucleotide variant | NM_001465.6(FYB1):c.1292+21C>T | not provided [RCV001620481] | benign | 5 | 39153427 | 39153427 | Human | | name |
| 150508141 | CV1244751 | single nucleotide variant | NM_001465.6(FYB1):c.1841-51C>G | not provided [RCV001659000] | benign | 5 | 39127858 | 39127858 | Human | | name |
| 150483064 | CV1245048 | single nucleotide variant | NM_001465.6(FYB1):c.2238+76A>G | not provided [RCV001653225] | benign | 5 | 39119459 | 39119459 | Human | | name |
| 150483404 | CV1247615 | single nucleotide variant | NM_001465.6(FYB1):c.2435+44T>A | not provided [RCV001673441] | benign | 5 | 39110312 | 39110312 | Human | | name |
| 150499270 | CV1254331 | single nucleotide variant | NM_001465.6(FYB1):c.2467+11T>C | not provided [RCV001676505] | benign | 5 | 39108220 | 39108220 | Human | | name |
| 150493200 | CV1267098 | single nucleotide variant | NM_001465.6(FYB1):c.2239-84A>C | not provided [RCV001688125] | benign | 5 | 39119120 | 39119120 | Human | | name |
| 150455561 | CV1277811 | single nucleotide variant | NM_001465.6(FYB1):c.1817+15G>A | not provided [RCV001708988] | benign | 5 | 39134193 | 39134193 | Human | | name |
| 150500818 | CV1283871 | single nucleotide variant | NM_001465.6(FYB1):c.1135+29T>C | not provided [RCV001718472] | benign | 5 | 39201797 | 39201797 | Human | | name |
| 150333440 | CV1169116 | single nucleotide variant | NM_001465.6(FYB1):c.2046-128G>A | not provided [RCV001537337] | benign | 5 | 39124406 | 39124406 | Human | | name |
| 150334622 | CV1171426 | single nucleotide variant | NM_001465.6(FYB1):c.1676-151T>G | not provided [RCV001540145] | benign | 5 | 39134500 | 39134500 | Human | | name |
| 150330880 | CV1171427 | single nucleotide variant | NM_001465.6(FYB1):c.1340-311T>C | not provided [RCV001538341] | benign | 5 | 39139563 | 39139563 | Human | | name |
| 150477817 | CV1218683 | single nucleotide variant | NM_001465.6(FYB1):c.1292+299C>A | not provided [RCV001616310] | benign | 5 | 39153149 | 39153149 | Human | | name |
| 150502563 | CV1223249 | single nucleotide variant | NM_001465.6(FYB1):c.1675+222G>A | not provided [RCV001621183] | benign | 5 | 39134633 | 39134633 | Human | | name |
| 150501659 | CV1224244 | single nucleotide variant | NM_001465.6(FYB1):c.2468-316T>C | not provided [RCV001620885] | benign | 5 | 39107781 | 39107781 | Human | | name |
| 150498989 | CV1224512 | single nucleotide variant | NM_001465.6(FYB1):c.1907+140G>A | not provided [RCV001620343] | benign | 5 | 39127601 | 39127601 | Human | | name |
| 150516749 | CV1227221 | single nucleotide variant | NM_001465.6(FYB1):c.1817+141A>G | not provided [RCV001639319] | benign | 5 | 39134067 | 39134067 | Human | | name |
| 150508249 | CV1229598 | single nucleotide variant | NM_001465.6(FYB1):c.2239-106T>C | not provided [RCV001636176] | benign | 5 | 39119142 | 39119142 | Human | | name |
| 150461166 | CV1231442 | single nucleotide variant | NM_001465.6(FYB1):c.1817+325A>C | not provided [RCV001641008] | benign | 5 | 39133883 | 39133883 | Human | | name |
| 150446514 | CV1232115 | single nucleotide variant | NM_001465.6(FYB1):c.1359+159T>C | not provided [RCV001646023] | benign | 5 | 39139074 | 39139074 | Human | | name |
| 150497156 | CV1236975 | deletion | NM_001465.6(FYB1):c.1907+290del | not provided [RCV001656039] | benign | 5 | 39127451 | 39127451 | Human | | name |
| 150495063 | CV1241507 | single nucleotide variant | NM_001465.6(FYB1):c.1293-278A>T | not provided [RCV001655514] | benign | 5 | 39141419 | 39141419 | Human | | name |
| 150511194 | CV1242636 | single nucleotide variant | NM_001465.6(FYB1):c.1394+225A>G | not provided [RCV001660988] | benign | 5 | 39138432 | 39138432 | Human | | name |
| 150509226 | CV1247254 | single nucleotide variant | NM_001465.6(FYB1):c.2046-213T>A | not provided [RCV001659281] | benign | 5 | 39124491 | 39124491 | Human | | name |
| 150471017 | CV1248131 | single nucleotide variant | NM_001465.6(FYB1):c.2045+301C>G | not provided [RCV001671167] | benign | 5 | 39125697 | 39125697 | Human | | name |
| 150490163 | CV1250977 | single nucleotide variant | NM_001465.6(FYB1):c.1359+200A>T | not provided [RCV001674644] | benign | 5 | 39139033 | 39139033 | Human | | name |
| 150504437 | CV1257996 | deletion | NM_001465.6(FYB1):c.1908-204del | not provided [RCV001677685] | benign | 5 | 39126339 | 39126339 | Human | | name |
| 150484218 | CV1263130 | single nucleotide variant | NM_001465.6(FYB1):c.1339+109T>C | not provided [RCV001686530] | benign | 5 | 39140986 | 39140986 | Human | | name |
| 150444216 | CV1277964 | single nucleotide variant | NM_001465.6(FYB1):c.1395-144C>T | not provided [RCV001707107] | benign | 5 | 39137864 | 39137864 | Human | | name |
| 150476009 | CV1279173 | single nucleotide variant | NM_001465.6(FYB1):c.1515+322T>C | not provided [RCV001713922] | benign | 5 | 39137278 | 39137278 | Human | | name |
| 150472970 | CV1281327 | single nucleotide variant | NM_001465.6(FYB1):c.1908-320C>A | not provided [RCV001713454] | benign | 5 | 39126455 | 39126455 | Human | | name |
| 150487671 | CV1283872 | single nucleotide variant | NM_001465.6(FYB1):c.1136-175C>T | not provided [RCV001715990] | benign | 5 | 39153779 | 39153779 | Human | | name |
| 150487693 | CV1283875 | single nucleotide variant | NM_001465.6(FYB1):c.1817+291T>C | not provided [RCV001715993] | benign | 5 | 39133917 | 39133917 | Human | | name |
| 408367426 | CV3513899 | single nucleotide variant | NM_001465.6(FYB1):c.-27-5884C>T | FYB1-related disorder [RCV004758504] | likely benign | 5 | 39208871 | 39208871 | Human | | name , trait , alternate_id |
| 408367505 | CV3514745 | single nucleotide variant | NM_001465.6(FYB1):c.-27-5883A>G | FYB1-related disorder [RCV004758520] | likely benign | 5 | 39208870 | 39208870 | Human | | name , trait , alternate_id |
| 150472383 | CV1272479 | duplication | NM_001465.6(FYB1):c.1907+268_1907+269dup | not provided [RCV001695535] | benign | 5 | 39127450 | 39127451 | Human | | name |
| 150470747 | CV1269915 | insertion | NM_001465.6(FYB1):c.1292+298_1292+299insACACCAACTCCT | not provided [RCV001695202] | benign | 5 | 39153149 | 39153150 | Human | | name |
| 8594827 | CV32767 | single nucleotide variant | NM_002036.4(ACKR1):c.125G>A (p.Gly42Asp) | ACKR1-related disorder [RCV003974842]|DUFFY BLOOD GROUP SYSTEM, FYA/FYB POLYMORPHISM [RCV000000005]|not provided [RCV004713174]|not specified [RCV000825065] | benign | 1 | 159205564 | 159205564 | Human | 35 | trait |
| 8594827 | CV32767 | single nucleotide variant | NM_002036.4(ACKR1):c.125G>A (p.Gly42Asp) | ACKR1-related disorder [RCV003974842]|DUFFY BLOOD GROUP SYSTEM, FYA/FYB POLYMORPHISM [RCV000000005]|not provided [RCV004713174]|not specified [RCV000825065] | benign | 1 | 159205564 | 159205565 | Human | 35 | trait |
| 401726772 | CV2736176 | single nucleotide variant | NM_001465.6(FYB1):c.243G>A (p.Pro81=) | FYB1-related disorder [RCV003966312]|not provided [RCV003312623] | likely benign | 5 | 39202718 | 39202718 | Human | 1 | name , trait , alternate_id |
| 401917675 | CV2827739 | single nucleotide variant | NM_001465.6(FYB1):c.1941G>A (p.Thr647=) | FYB1-related disorder [RCV003939002]|not provided [RCV003429626] | likely benign | 5 | 39126102 | 39126102 | Human | 1 | name , trait , alternate_id |
| 405280051 | CV3191654 | single nucleotide variant | NM_001465.6(FYB1):c.1280C>T (p.Pro427Leu) | FYB1-related disorder [RCV003919792]|not provided [RCV004790642] | likely benign|uncertain significance | 5 | 39153460 | 39153460 | Human | 1 | name , trait , alternate_id |
| 405276100 | CV3193230 | single nucleotide variant | NM_001465.6(FYB1):c.804G>A (p.Ala268=) | FYB1-related disorder [RCV003974396] | likely benign | 5 | 39202157 | 39202157 | Human | | name , trait , alternate_id |
| 405286067 | CV3196577 | single nucleotide variant | NM_001465.6(FYB1):c.1281G>A (p.Pro427=) | FYB1-related disorder [RCV003981429] | likely benign | 5 | 39153459 | 39153459 | Human | | name , trait , alternate_id |
| 405275700 | CV3199439 | single nucleotide variant | NM_001465.6(FYB1):c.410C>T (p.Pro137Leu) | FYB1-related disorder [RCV003916846] | likely benign | 5 | 39202551 | 39202551 | Human | | name , trait , alternate_id |
| 405280066 | CV3200297 | single nucleotide variant | NM_001465.6(FYB1):c.18G>A (p.Thr6=) | FYB1-related disorder [RCV003977197] | likely benign | 5 | 39202943 | 39202943 | Human | | name , trait , alternate_id |
| 405266612 | CV3202040 | single nucleotide variant | NM_001465.6(FYB1):c.290G>T (p.Ser97Ile) | FYB1-related disorder [RCV003911522]|not specified [RCV004927972] | likely benign|uncertain significance | 5 | 39202671 | 39202671 | Human | 1 | name , trait , alternate_id |
| 405258321 | CV3203185 | single nucleotide variant | NM_001465.6(FYB1):c.606G>A (p.Pro202=) | FYB1-related disorder [RCV003941793] | likely benign | 5 | 39202355 | 39202355 | Human | | name , trait , alternate_id |
| 405295102 | CV3211003 | single nucleotide variant | NM_001465.6(FYB1):c.2000G>A (p.Arg667Gln) | FYB1-related disorder [RCV003937006]|not specified [RCV004369809] | likely benign|uncertain significance | 5 | 39126043 | 39126043 | Human | 1 | name , trait , alternate_id |
| 405284326 | CV3213714 | single nucleotide variant | NM_001465.6(FYB1):c.2412C>T (p.Val804=) | FYB1-related disorder [RCV003922273] | likely benign | 5 | 39110379 | 39110379 | Human | | name , trait , alternate_id |
| 405271551 | CV3219134 | single nucleotide variant | NM_001465.6(FYB1):c.982C>A (p.Gln328Lys) | FYB1-related disorder [RCV003971829] | benign | 5 | 39201979 | 39201979 | Human | | name , trait , alternate_id |
| 405268031 | CV3219571 | single nucleotide variant | NM_001465.6(FYB1):c.1906G>T (p.Gly636Cys) | FYB1-related disorder [RCV003969779] | likely benign | 5 | 39127742 | 39127742 | Human | | name , trait , alternate_id |
| 408367494 | CV3517503 | single nucleotide variant | NM_001465.6(FYB1):c.29C>G (p.Pro10Arg) | FYB1-related disorder [RCV004758573] | uncertain significance | 5 | 39202932 | 39202932 | Human | | name , trait , alternate_id |
| 597779015 | CV3676866 | single nucleotide variant | NM_001465.6(FYB1):c.5C>T (p.Ala2Val) | not specified [RCV004930270] | uncertain significance | 5 | 39202956 | 39202956 | Human | | name |
| 407485378 | CV3439437 | single nucleotide variant | NM_001465.6(FYB1):c.17C>T (p.Thr6Met) | not specified [RCV004618906] | uncertain significance | 5 | 39202944 | 39202944 | Human | | name |
| 597742906 | CV3676869 | single nucleotide variant | NM_001465.6(FYB1):c.23G>A (p.Gly8Asp) | not specified [RCV004921959] | uncertain significance | 5 | 39202938 | 39202938 | Human | | name |
| 597742911 | CV3676870 | single nucleotide variant | NM_001465.6(FYB1):c.17C>G (p.Thr6Arg) | not specified [RCV004921960] | uncertain significance | 5 | 39202944 | 39202944 | Human | | name |
| 401917677 | CV2827742 | single nucleotide variant | NM_001465.6(FYB1):c.459G>A (p.Pro153=) | not provided [RCV003429628] | likely benign | 5 | 39202502 | 39202502 | Human | | name |
| 405731521 | CV3257753 | single nucleotide variant | NM_001465.6(FYB1):c.92G>T (p.Gly31Val) | not specified [RCV004389926] | uncertain significance | 5 | 39202869 | 39202869 | Human | | name |
| 407485365 | CV3439435 | single nucleotide variant | NM_001465.6(FYB1):c.58C>A (p.Pro20Thr) | not specified [RCV004618904] | uncertain significance | 5 | 39202903 | 39202903 | Human | | name |
| 15162262 | CV735109 | single nucleotide variant | NM_001465.6(FYB1):c.819A>C (p.Pro273=) | not provided [RCV000903517] | benign | 5 | 39202142 | 39202142 | Human | | name |
| 150513860 | CV1210736 | single nucleotide variant | NM_001465.6(FYB1):c.1296C>T (p.Ser432=) | not provided [RCV001598777] | benign | 5 | 39141138 | 39141138 | Human | | name |
| 150443764 | CV1277901 | single nucleotide variant | NM_001465.6(FYB1):c.1710C>T (p.Asp570=) | not provided [RCV001707044] | benign | 5 | 39134315 | 39134315 | Human | | name |
| 243049479 | CV2416855 | single nucleotide variant | NM_001465.6(FYB1):c.2068T>C (p.Leu690=) | not specified [RCV003151527] | likely benign | 5 | 39124256 | 39124256 | Human | | name |
| 401917676 | CV2827740 | single nucleotide variant | NM_001465.6(FYB1):c.1651T>C (p.Leu551=) | not provided [RCV003429627] | likely benign | 5 | 39134879 | 39134879 | Human | | name |
| 401912646 | CV2827741 | single nucleotide variant | NM_001465.6(FYB1):c.1629A>G (p.Thr543=) | not provided [RCV003427454] | likely benign | 5 | 39134901 | 39134901 | Human | | name |
| 405730410 | CV3257726 | single nucleotide variant | NM_001465.6(FYB1):c.139C>T (p.Pro47Ser) | not specified [RCV004389899] | uncertain significance | 5 | 39202822 | 39202822 | Human | | name |
| 405730418 | CV3257727 | single nucleotide variant | NM_001465.6(FYB1):c.151C>T (p.Pro51Ser) | not specified [RCV004389900] | uncertain significance | 5 | 39202810 | 39202810 | Human | | name |
| 405730520 | CV3257739 | single nucleotide variant | NM_001465.6(FYB1):c.242C>G (p.Pro81Arg) | not specified [RCV004389912] | uncertain significance | 5 | 39202719 | 39202719 | Human | | name |
| 405730546 | CV3257742 | single nucleotide variant | NM_001465.6(FYB1):c.256A>G (p.Thr86Ala) | not provided [RCV004767533]|not specified [RCV004389915] | uncertain significance | 5 | 39202705 | 39202705 | Human | | name |
| 405730552 | CV3257743 | single nucleotide variant | NM_001465.6(FYB1):c.278G>A (p.Gly93Glu) | not specified [RCV004389916] | uncertain significance | 5 | 39202683 | 39202683 | Human | | name |
| 405730558 | CV3257744 | single nucleotide variant | NM_001465.6(FYB1):c.287C>A (p.Ala96Asp) | not specified [RCV004389917] | uncertain significance | 5 | 39202674 | 39202674 | Human | | name |
| 596945966 | CV3548124 | single nucleotide variant | NM_001465.6(FYB1):c.1026G>A (p.Pro342=) | not provided [RCV004809455] | likely benign | 5 | 39201935 | 39201935 | Human | | name |
| 597742884 | CV3676858 | single nucleotide variant | NM_001465.6(FYB1):c.140C>T (p.Pro47Leu) | not specified [RCV004921955] | uncertain significance | 5 | 39202821 | 39202821 | Human | | name |
| 597779007 | CV3676863 | single nucleotide variant | NM_001465.6(FYB1):c.242C>T (p.Pro81Leu) | not specified [RCV004930268] | uncertain significance | 5 | 39202719 | 39202719 | Human | | name |
| 597742928 | CV3676875 | single nucleotide variant | NM_001465.6(FYB1):c.292T>G (p.Leu98Val) | not specified [RCV004921963] | uncertain significance | 5 | 39202669 | 39202669 | Human | | name |
| 150437602 | CV1286571 | single nucleotide variant | NM_001465.6(FYB1):c.374C>A (p.Ser125Tyr) | not provided [RCV001724650] | benign | 5 | 39202587 | 39202587 | Human | | name |
| 243064730 | CV2410249 | single nucleotide variant | NM_001465.6(FYB1):c.405C>G (p.Asn135Lys) | Thrombocytopenia 3 [RCV003143432] | uncertain significance | 5 | 39202556 | 39202556 | Human | 1 | name |
| 329377430 | CV2435917 | single nucleotide variant | NM_001465.6(FYB1):c.385T>C (p.Phe129Leu) | not specified [RCV004255144] | uncertain significance | 5 | 39202576 | 39202576 | Human | | name |
| 329358396 | CV2450305 | single nucleotide variant | NM_001465.6(FYB1):c.674C>A (p.Ser225Tyr) | not specified [RCV004271396] | uncertain significance | 5 | 39202287 | 39202287 | Human | | name |
| 401747378 | CV2688899 | single nucleotide variant | NM_001465.6(FYB1):c.961A>G (p.Thr321Ala) | not specified [RCV004303907] | uncertain significance | 5 | 39202000 | 39202000 | Human | | name |
| 401777569 | CV2704159 | single nucleotide variant | NM_001465.6(FYB1):c.685C>A (p.Leu229Met) | not specified [RCV004311172] | uncertain significance | 5 | 39202276 | 39202276 | Human | | name |
| 401777676 | CV2704258 | single nucleotide variant | NM_001465.6(FYB1):c.743A>T (p.Lys248Ile) | not specified [RCV004311254] | uncertain significance | 5 | 39202218 | 39202218 | Human | | name |
| 401892919 | CV2758219 | single nucleotide variant | NM_001465.6(FYB1):c.423T>G (p.Ser141Arg) | not specified [RCV004341584] | uncertain significance | 5 | 39202538 | 39202538 | Human | | name |
| 405730566 | CV3257745 | single nucleotide variant | NM_001465.6(FYB1):c.306C>G (p.Asp102Glu) | not specified [RCV004389918] | uncertain significance | 5 | 39202655 | 39202655 | Human | | name |
| 405730576 | CV3257746 | single nucleotide variant | NM_001465.6(FYB1):c.310G>A (p.Glu104Lys) | not specified [RCV004389919] | uncertain significance | 5 | 39202651 | 39202651 | Human | | name |
| 405730584 | CV3257747 | single nucleotide variant | NM_001465.6(FYB1):c.380C>T (p.Pro127Leu) | not specified [RCV004389920] | uncertain significance | 5 | 39202581 | 39202581 | Human | | name |
| 405730593 | CV3257748 | single nucleotide variant | NM_001465.6(FYB1):c.458C>G (p.Pro153Arg) | not specified [RCV004389921] | uncertain significance | 5 | 39202503 | 39202503 | Human | | name |
| 405731552 | CV3257749 | single nucleotide variant | NM_001465.6(FYB1):c.706G>A (p.Gly236Ser) | not specified [RCV004389922] | uncertain significance | 5 | 39202255 | 39202255 | Human | | name |
| 405731545 | CV3257750 | single nucleotide variant | NM_001465.6(FYB1):c.814G>T (p.Gly272Cys) | not specified [RCV004389923] | uncertain significance | 5 | 39202147 | 39202147 | Human | | name |
| 405731539 | CV3257751 | single nucleotide variant | NM_001465.6(FYB1):c.823C>T (p.Leu275Phe) | not specified [RCV004389924] | uncertain significance | 5 | 39202138 | 39202138 | Human | | name |
| 405731531 | CV3257752 | single nucleotide variant | NM_001465.6(FYB1):c.886C>A (p.Gln296Lys) | not specified [RCV004389925] | uncertain significance | 5 | 39202075 | 39202075 | Human | | name |
| 405731515 | CV3257754 | single nucleotide variant | NM_001465.6(FYB1):c.943A>G (p.Lys315Glu) | not specified [RCV004389927] | uncertain significance | 5 | 39202018 | 39202018 | Human | | name |
| 405731505 | CV3257755 | single nucleotide variant | NM_001465.6(FYB1):c.949C>G (p.Pro317Ala) | not specified [RCV004389928] | uncertain significance | 5 | 39202012 | 39202012 | Human | | name |
| 407485347 | CV3439432 | single nucleotide variant | NM_001465.6(FYB1):c.610C>G (p.Leu204Val) | not specified [RCV004618901] | uncertain significance | 5 | 39202351 | 39202351 | Human | | name |
| 407485372 | CV3439436 | single nucleotide variant | NM_001465.6(FYB1):c.739A>G (p.Asn247Asp) | not specified [RCV004618905] | uncertain significance | 5 | 39202222 | 39202222 | Human | | name |
| 596931615 | CV3538765 | single nucleotide variant | NM_001465.6(FYB1):c.458C>T (p.Pro153Leu) | not provided [RCV004792891] | uncertain significance | 5 | 39202503 | 39202503 | Human | | name |
| 597742890 | CV3676859 | single nucleotide variant | NM_001465.6(FYB1):c.352A>G (p.Ile118Val) | not specified [RCV004921956] | uncertain significance | 5 | 39202609 | 39202609 | Human | | name |
| 597778995 | CV3676860 | single nucleotide variant | NM_001465.6(FYB1):c.506C>T (p.Ala169Val) | not specified [RCV004930265] | likely benign | 5 | 39202455 | 39202455 | Human | | name |
| 597779011 | CV3676864 | single nucleotide variant | NM_001465.6(FYB1):c.656T>C (p.Val219Ala) | not specified [RCV004930269] | likely benign | 5 | 39202305 | 39202305 | Human | | name |
| 597779025 | CV3676874 | single nucleotide variant | NM_001465.6(FYB1):c.630T>A (p.His210Gln) | not specified [RCV004930273] | likely benign | 5 | 39202331 | 39202331 | Human | | name |
| 12893147 | CV404860 | single nucleotide variant | NM_001465.6(FYB1):c.393G>A (p.Trp131Ter) | Thrombocytopenia 3 [RCV000477969] | pathogenic | 5 | 39202568 | 39202568 | Human | 1 | name |
| 13217064 | CV428436 | single nucleotide variant | NM_001465.6(FYB1):c.945G>T (p.Lys315Asn) | not specified [RCV000504374] | uncertain significance | 5 | 39202016 | 39202016 | Human | | name |
| 15100603 | CV699092 | single nucleotide variant | NM_001465.6(FYB1):c.995A>G (p.Lys332Arg) | not provided [RCV000958939] | benign | 5 | 39201966 | 39201966 | Human | | name |
| 126732216 | CV1020095 | single nucleotide variant | NM_001465.6(FYB1):c.2434A>C (p.Asn812His) | Thrombocytopenia 3 [RCV001333946] | uncertain significance | 5 | 39110357 | 39110357 | Human | 1 | name |
| 150496580 | CV1271568 | single nucleotide variant | NM_001465.6(FYB1):c.2152G>T (p.Val718Phe) | not provided [RCV001688868] | benign | 5 | 39119621 | 39119621 | Human | | name |
| 329376441 | CV2425138 | single nucleotide variant | NM_001465.6(FYB1):c.1106C>G (p.Thr369Arg) | not specified [RCV004249029] | uncertain significance | 5 | 39201855 | 39201855 | Human | | name |
| 329359318 | CV2435422 | single nucleotide variant | NM_001465.6(FYB1):c.2294C>T (p.Ser765Phe) | not specified [RCV004253074] | uncertain significance | 5 | 39118981 | 39118981 | Human | | name |
| 401760243 | CV2709690 | single nucleotide variant | NM_001465.6(FYB1):c.1152G>C (p.Gln384His) | not specified [RCV004320687] | uncertain significance | 5 | 39153588 | 39153588 | Human | | name |
| 401763252 | CV2720250 | single nucleotide variant | NM_001465.6(FYB1):c.2455G>A (p.Asp819Asn) | not specified [RCV004325583] | uncertain significance | 5 | 39108243 | 39108243 | Human | | name |
| 401879723 | CV2769709 | single nucleotide variant | NM_001465.6(FYB1):c.1022C>A (p.Thr341Asn) | not specified [RCV004351628] | uncertain significance | 5 | 39201939 | 39201939 | Human | | name |
| 401891394 | CV2770504 | single nucleotide variant | NM_001465.6(FYB1):c.2136G>T (p.Met712Ile) | not specified [RCV004358136] | uncertain significance | 5 | 39122338 | 39122338 | Human | | name |
| 401864418 | CV2773419 | single nucleotide variant | NM_001465.6(FYB1):c.2357C>T (p.Thr786Ile) | not specified [RCV004354059] | uncertain significance | 5 | 39118918 | 39118918 | Human | | name |
| 401870100 | CV2792276 | single nucleotide variant | NM_001465.6(FYB1):c.1397A>G (p.Glu466Gly) | not specified [RCV004361465] | uncertain significance | 5 | 39137718 | 39137718 | Human | | name |
| 405730344 | CV3257718 | single nucleotide variant | NM_001465.6(FYB1):c.1050G>T (p.Leu350Phe) | not specified [RCV004389891] | uncertain significance | 5 | 39201911 | 39201911 | Human | | name |
| 405730357 | CV3257719 | single nucleotide variant | NM_001465.6(FYB1):c.1083C>G (p.Asn361Lys) | not specified [RCV004389892] | uncertain significance | 5 | 39201878 | 39201878 | Human | | name |
| 405730362 | CV3257720 | single nucleotide variant | NM_001465.6(FYB1):c.1106C>T (p.Thr369Met) | not specified [RCV004389893] | uncertain significance | 5 | 39201855 | 39201855 | Human | | name |
| 405730370 | CV3257721 | single nucleotide variant | NM_001465.6(FYB1):c.1117A>G (p.Lys373Glu) | not specified [RCV004389894] | uncertain significance | 5 | 39201844 | 39201844 | Human | | name |
| 405730379 | CV3257722 | single nucleotide variant | NM_001465.6(FYB1):c.1190C>G (p.Pro397Arg) | not specified [RCV004389895] | uncertain significance | 5 | 39153550 | 39153550 | Human | | name |
| 405730385 | CV3257723 | single nucleotide variant | NM_001465.6(FYB1):c.1259C>T (p.Pro420Leu) | not specified [RCV004389896] | uncertain significance | 5 | 39153481 | 39153481 | Human | | name |
| 405730392 | CV3257724 | single nucleotide variant | NM_001465.6(FYB1):c.1304A>G (p.Asn435Ser) | not specified [RCV004389897] | uncertain significance | 5 | 39141130 | 39141130 | Human | | name |
| 405730402 | CV3257725 | single nucleotide variant | NM_001465.6(FYB1):c.1342G>T (p.Ala448Ser) | not specified [RCV004389898] | uncertain significance | 5 | 39139250 | 39139250 | Human | | name |
| 405730426 | CV3257728 | single nucleotide variant | NM_001465.6(FYB1):c.1528A>T (p.Ile510Phe) | not specified [RCV004389901] | uncertain significance | 5 | 39135002 | 39135002 | Human | | name |
| 405730435 | CV3257729 | single nucleotide variant | NM_001465.6(FYB1):c.1559G>A (p.Cys520Tyr) | not specified [RCV004389902] | uncertain significance | 5 | 39134971 | 39134971 | Human | | name |
| 405730444 | CV3257730 | single nucleotide variant | NM_001465.6(FYB1):c.1631A>G (p.Asp544Gly) | not specified [RCV004389903] | uncertain significance | 5 | 39134899 | 39134899 | Human | | name |
| 405730455 | CV3257731 | single nucleotide variant | NM_001465.6(FYB1):c.1669G>A (p.Gly557Ser) | not specified [RCV004389904] | uncertain significance | 5 | 39134861 | 39134861 | Human | | name |
| 405730462 | CV3257732 | single nucleotide variant | NM_001465.6(FYB1):c.1928A>G (p.Glu643Gly) | not specified [RCV004389905] | uncertain significance | 5 | 39126115 | 39126115 | Human | | name |
| 405730472 | CV3257733 | single nucleotide variant | NM_001465.6(FYB1):c.1959G>C (p.Leu653Phe) | not specified [RCV004389906] | uncertain significance | 5 | 39126084 | 39126084 | Human | | name |
| 405730480 | CV3257734 | single nucleotide variant | NM_001465.6(FYB1):c.2075T>C (p.Met692Thr) | not specified [RCV004389907] | uncertain significance | 5 | 39122399 | 39122399 | Human | | name |
| 405730488 | CV3257735 | single nucleotide variant | NM_001465.6(FYB1):c.2290A>G (p.Thr764Ala) | not specified [RCV004389908] | uncertain significance | 5 | 39118985 | 39118985 | Human | | name |
| 405730498 | CV3257736 | single nucleotide variant | NM_001465.6(FYB1):c.2350A>T (p.Ile784Leu) | not specified [RCV004389909] | uncertain significance | 5 | 39118925 | 39118925 | Human | | name |
| 405730503 | CV3257737 | single nucleotide variant | NM_001465.6(FYB1):c.2374G>T (p.Val792Phe) | not specified [RCV004389910] | uncertain significance | 5 | 39118901 | 39118901 | Human | | name |
| 405730512 | CV3257738 | single nucleotide variant | NM_001465.6(FYB1):c.2389G>A (p.Glu797Lys) | not specified [RCV004389911] | uncertain significance | 5 | 39118886 | 39118886 | Human | | name |
| 405730528 | CV3257740 | single nucleotide variant | NM_001465.6(FYB1):c.2468G>A (p.Gly823Asp) | not specified [RCV004389913] | uncertain significance | 5 | 39107465 | 39107465 | Human | | name |
| 405730535 | CV3257741 | single nucleotide variant | NM_001465.6(FYB1):c.2482A>T (p.Asn828Tyr) | not specified [RCV004389914] | uncertain significance | 5 | 39107451 | 39107451 | Human | | name |
| 407485353 | CV3439433 | single nucleotide variant | NM_001465.6(FYB1):c.2288T>C (p.Ile763Thr) | not specified [RCV004618902] | uncertain significance | 5 | 39118987 | 39118987 | Human | | name |
| 407485360 | CV3439434 | single nucleotide variant | NM_001465.6(FYB1):c.1199C>T (p.Pro400Leu) | not specified [RCV004618903] | uncertain significance | 5 | 39153541 | 39153541 | Human | | name |
| 407485386 | CV3439438 | single nucleotide variant | NM_001465.6(FYB1):c.1177C>T (p.Pro393Ser) | not specified [RCV004618907] | uncertain significance | 5 | 39153563 | 39153563 | Human | | name |
| 596931609 | CV3538763 | single nucleotide variant | NM_001465.6(FYB1):c.1328C>T (p.Thr443Met) | not provided [RCV004792889] | uncertain significance | 5 | 39141106 | 39141106 | Human | | name |
| 596931612 | CV3538764 | single nucleotide variant | NM_001465.6(FYB1):c.1201G>T (p.Ala401Ser) | not provided [RCV004792890] | uncertain significance | 5 | 39153539 | 39153539 | Human | | name |
| 597779003 | CV3676862 | single nucleotide variant | NM_001465.6(FYB1):c.1763T>C (p.Ile588Thr) | not specified [RCV004930267] | likely benign | 5 | 39134262 | 39134262 | Human | | name |
| 597742895 | CV3676865 | single nucleotide variant | NM_001465.6(FYB1):c.1850C>T (p.Pro617Leu) | not specified [RCV004921957] | uncertain significance | 5 | 39127798 | 39127798 | Human | | name |
| 597779019 | CV3676867 | single nucleotide variant | NM_001465.6(FYB1):c.1003G>A (p.Gly335Arg) | not specified [RCV004930271] | uncertain significance | 5 | 39201958 | 39201958 | Human | | name |
| 597742900 | CV3676868 | single nucleotide variant | NM_001465.6(FYB1):c.1369A>T (p.Ser457Cys) | not specified [RCV004921958] | uncertain significance | 5 | 39138682 | 39138682 | Human | | name |
| 597779023 | CV3676872 | single nucleotide variant | NM_001465.6(FYB1):c.2311A>G (p.Arg771Gly) | not specified [RCV004930272] | uncertain significance | 5 | 39118964 | 39118964 | Human | | name |
| 597742922 | CV3676873 | single nucleotide variant | NM_001465.6(FYB1):c.1088C>T (p.Pro363Leu) | not specified [RCV004921962] | uncertain significance | 5 | 39201873 | 39201873 | Human | | name |
| 597779030 | CV3676876 | single nucleotide variant | NM_001465.6(FYB1):c.1996A>G (p.Ile666Val) | not specified [RCV004930274] | uncertain significance | 5 | 39126047 | 39126047 | Human | | name |
| 598243830 | CV3966836 | single nucleotide variant | NM_001465.6(FYB1):c.2135T>C (p.Met712Thr) | not specified [RCV005344771] | uncertain significance | 5 | 39122339 | 39122339 | Human | | name |
| 598243836 | CV3966837 | single nucleotide variant | NM_001465.6(FYB1):c.1525C>T (p.Pro509Ser) | not specified [RCV005344772] | uncertain significance | 5 | 39135005 | 39135005 | Human | | name |
| 598243844 | CV3966838 | single nucleotide variant | NM_001465.6(FYB1):c.1025C>T (p.Pro342Leu) | not specified [RCV005344773] | uncertain significance | 5 | 39201936 | 39201936 | Human | | name |
| 598243851 | CV3966839 | single nucleotide variant | NM_001465.6(FYB1):c.2078G>A (p.Gly693Glu) | not specified [RCV005344774] | uncertain significance | 5 | 39122396 | 39122396 | Human | | name |
| 598243858 | CV3966840 | single nucleotide variant | NM_001465.6(FYB1):c.1490A>G (p.Glu497Gly) | not specified [RCV005344775] | uncertain significance | 5 | 39137625 | 39137625 | Human | | name |
| 598243865 | CV3966841 | single nucleotide variant | NM_001465.6(FYB1):c.1181C>T (p.Pro394Leu) | not specified [RCV005344776] | uncertain significance | 5 | 39153559 | 39153559 | Human | | name |
| 598158671 | CV3966842 | single nucleotide variant | NM_001465.6(FYB1):c.2071G>A (p.Asp691Asn) | not specified [RCV005328096] | uncertain significance | 5 | 39124253 | 39124253 | Human | | name |
| 598243873 | CV3966843 | single nucleotide variant | NM_001465.6(FYB1):c.1808A>C (p.Asp603Ala) | not specified [RCV005344777] | uncertain significance | 5 | 39134217 | 39134217 | Human | | name |
| 13214504 | CV428435 | single nucleotide variant | NM_001465.6(FYB1):c.1922T>C (p.Val641Ala) | not provided [RCV004791500]|not specified [RCV000501347] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 5 | 39126121 | 39126121 | Human | | name |
| 38468030 | CV920738 | single nucleotide variant | NM_001465.6(FYB1):c.1154C>T (p.Thr385Met) | not provided [RCV001200514]|not specified [RCV004033487] | uncertain significance | 5 | 39153586 | 39153586 | Human | | name |
| 401927765 | CV2812826 | single nucleotide variant | NM_001004303.5(FYB2):c.1689G>A (p.Ser563=) | not provided [RCV003406518] | likely benign | 1 | 56740711 | 56740711 | Human | | name |
| 405731496 | CV3257756 | single nucleotide variant | NM_001004303.5(FYB2):c.184C>T (p.Arg62Cys) | not specified [RCV004389929] | uncertain significance | 1 | 56792629 | 56792629 | Human | | name |
| 405731491 | CV3257757 | single nucleotide variant | NM_001004303.5(FYB2):c.535C>T (p.Pro179Ser) | not specified [RCV004389930] | uncertain significance | 1 | 56792278 | 56792278 | Human | | name |
| 405731482 | CV3257758 | single nucleotide variant | NM_001004303.5(FYB2):c.836C>T (p.Pro279Leu) | not specified [RCV004389931] | uncertain significance | 1 | 56789056 | 56789056 | Human | | name |
| 405731473 | CV3257759 | single nucleotide variant | NM_001004303.5(FYB2):c.933G>C (p.Glu311Asp) | not specified [RCV004389932] | uncertain significance | 1 | 56787195 | 56787195 | Human | | name |
| 13820821 | CV576087 | single nucleotide variant | NM_001004303.5(FYB2):c.1420G>T (p.Glu474Ter) | not provided [RCV000709902] | not provided | 1 | 56744234 | 56744234 | Human | | name |
| 12893155 | CV404859 | microsatellite | NM_001465.6(FYB1):c.1385_1386del (p.Thr461_Tyr462insTer) | Thrombocytopenia 3 [RCV000477971] | pathogenic | 5 | 39138665 | 39138666 | Human | | name |