| 8561978 | CV25906 | deletion | FANCB, 3314-BP DEL | Fanconi anemia complementation group B [RCV000011614] | pathogenic | | | | Human | 1 | name |
| 8561980 | CV25908 | insertion | FANCB, 1-BP INS, 811T | Fanconi anemia complementation group B [RCV000011616] | pathogenic | | | | Human | | name |
| 8561977 | CV25905 | insertion | FANCB, 1-BP INS, 1838T | Fanconi anemia complementation group B [RCV000011613] | pathogenic | | | | Human | | name |
| 8561979 | CV25907 | deletion | FANCB, 1-BP DEL, 1650T | Fanconi anemia complementation group B [RCV000011615] | pathogenic | | | | Human | | name |
| 11630508 | CV352098 | single nucleotide variant | NM_001018113.3(FANCB):c.*33T>C | Fanconi anemia complementation group B [RCV000397201]|VACTERL association, X-linked, with or without hydrocephalus [RCV000351888] | benign|likely benign | X | 14843534 | 14843534 | Human | 2 | name |
| 11628054 | CV352780 | single nucleotide variant | NM_001018113.3(FANCB):c.*66T>G | Fanconi anemia complementation group B [RCV000294698]|VACTERL association, X-linked, with or without hydrocephalus [RCV000397206] | benign|likely benign | X | 14843501 | 14843501 | Human | 2 | name |
| 11628744 | CV352781 | single nucleotide variant | NM_001018113.3(FANCB):c.*14T>C | Fanconi anemia complementation group B [RCV000364423]|VACTERL association, X-linked, with or without hydrocephalus [RCV000307702]|not provided [RCV001683459] | benign | X | 14843553 | 14843553 | Human | 2 | name |
| 11618478 | CV339001 | single nucleotide variant | NM_001018113.3(FANCB):c.-229T>G | Fanconi anemia complementation group B [RCV000369353]|VACTERL association, X-linked, with or without hydrocephalus [RCV000314598] | benign | X | 14873023 | 14873023 | Human | 2 | name |
| 11612677 | CV339005 | single nucleotide variant | NM_001018113.3(FANCB):c.-232G>A | Fanconi anemia complementation group B [RCV000375080]|VACTERL association, X-linked, with or without hydrocephalus [RCV000261702] | likely benign | X | 14873026 | 14873026 | Human | 2 | name |
| 11627070 | CV348579 | single nucleotide variant | NM_001018113.3(FANCB):c.-230A>T | Fanconi anemia complementation group B [RCV000274513]|VACTERL association, X-linked, with or without hydrocephalus [RCV000329862] | uncertain significance | X | 14873024 | 14873024 | Human | 2 | name |
| 11626700 | CV352786 | single nucleotide variant | NM_001018113.3(FANCB):c.-173G>C | Fanconi anemia complementation group B [RCV000364217]|VACTERL association, X-linked, with or without hydrocephalus [RCV000268796]|X-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV000851550]|not provided [RCV004713875] | benign|likely benign | X | 14869025 | 14869025 | Human | 3 | name |
| 28874941 | CV902835 | single nucleotide variant | NM_001018113.3(FANCB):c.*151A>G | Fanconi anemia complementation group B [RCV001165571]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167167] | uncertain significance | X | 14843416 | 14843416 | Human | 2 | name |
| 28880314 | CV902844 | single nucleotide variant | NM_001018113.3(FANCB):c.-111A>G | Fanconi anemia complementation group B [RCV001167294]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167890] | uncertain significance | X | 14868963 | 14868963 | Human | 2 | name |
| 28882378 | CV902845 | single nucleotide variant | NM_001018113.3(FANCB):c.-219G>T | Fanconi anemia complementation group B [RCV001167891]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167892] | uncertain significance | X | 14873013 | 14873013 | Human | 2 | name |
| 405149460 | CV3064737 | single nucleotide variant | NM_001018113.3(FANCB):c.951+7C>T | Fanconi anemia [RCV003636686] | likely benign | X | 14864553 | 14864553 | Human | 1 | name |
| 13832120 | CV582611 | single nucleotide variant | NM_001018113.3(FANCB):c.-70-1G>C | not provided [RCV000722803] | uncertain significance | X | 14865581 | 14865581 | Human | | name |
| 127254795 | CV1086306 | single nucleotide variant | NM_001018113.3(FANCB):c.2166-9T>C | Fanconi anemia [RCV001418625] | likely benign | X | 14843990 | 14843990 | Human | 1 | name |
| 150457225 | CV1214518 | single nucleotide variant | NM_001018113.3(FANCB):c.2165+2T>G | Fanconi anemia [RCV001615390] | uncertain significance | X | 14844501 | 14844501 | Human | 1 | name |
| 151354954 | CV1328021 | duplication | NM_001018113.3(FANCB):c.1497-3dup | not specified [RCV001819497] | uncertain significance | X | 14845288 | 14845289 | Human | | name |
| 151760959 | CV1404251 | single nucleotide variant | NM_001018113.3(FANCB):c.1327-1G>A | Fanconi anemia [RCV002007855]|Fanconi anemia complementation group B [RCV005042633]|Glioma susceptibility 1 [RCV004555895] | likely pathogenic|uncertain significance | X | 14850675 | 14850675 | Human | 3 | name |
| 153001824 | CV1684967 | single nucleotide variant | NM_001018113.3(FANCB):c.1105-4T>C | Fanconi anemia [RCV002257243] | uncertain significance | X | 14857958 | 14857958 | Human | 1 | name |
| 156384475 | CV1878604 | single nucleotide variant | NM_001018113.3(FANCB):c.952-19A>G | Fanconi anemia [RCV003050752] | likely benign | X | 14859353 | 14859353 | Human | 1 | name |
| 156057115 | CV1930745 | single nucleotide variant | NM_001018113.3(FANCB):c.952-14T>C | Fanconi anemia [RCV002638149] | likely benign | X | 14859348 | 14859348 | Human | 1 | name |
| 156437572 | CV1947579 | single nucleotide variant | NM_001018113.3(FANCB):c.1496+8A>T | Fanconi anemia [RCV003107111] | likely benign | X | 14850497 | 14850497 | Human | 1 | name |
| 156394608 | CV1958785 | duplication | NM_001018113.3(FANCB):c.1928-5dup | Fanconi anemia [RCV002584240] | benign | X | 14844744 | 14844745 | Human | 1 | name |
| 156127114 | CV2036379 | single nucleotide variant | NM_001018113.3(FANCB):c.1197+8T>C | Fanconi anemia [RCV002786024] | likely benign | X | 14857854 | 14857854 | Human | 1 | name |
| 156325534 | CV2054090 | deletion | NM_001018113.3(FANCB):c.1927+9del | Fanconi anemia [RCV002810369] | likely benign | X | 14844847 | 14844847 | Human | 1 | name |
| 156264755 | CV2054091 | single nucleotide variant | NM_001018113.3(FANCB):c.1927+8T>A | Fanconi anemia [RCV002792138] | likely benign | X | 14844848 | 14844848 | Human | 1 | name |
| 156309197 | CV2085881 | single nucleotide variant | NM_001018113.3(FANCB):c.1198-3C>T | Fanconi anemia [RCV002898614] | uncertain significance | X | 14853170 | 14853170 | Human | 1 | name |
| 156268219 | CV2136311 | deletion | NM_001018113.3(FANCB):c.1326+7del | Fanconi anemia [RCV003009171] | likely benign | X | 14853032 | 14853032 | Human | 1 | name |
| 8561981 | CV25909 | single nucleotide variant | NM_001018113.3(FANCB):c.1496+5G>A | Fanconi anemia complementation group B [RCV000011617] | pathogenic | X | 14850500 | 14850500 | Human | 1 | name |
| 401920975 | CV2802171 | single nucleotide variant | NM_001018113.3(FANCB):c.1105-2A>G | FANCB-related disorder [RCV003402801] | likely pathogenic | X | 14857956 | 14857956 | Human | | name , trait , alternate_id |
| 405050705 | CV2879724 | deletion | NM_001018113.3(FANCB):c.2166-8del | Fanconi anemia [RCV003522137] | benign | X | 14843989 | 14843989 | Human | 1 | name |
| 404991992 | CV2887368 | deletion | NM_001018113.3(FANCB):c.1928-5del | Fanconi anemia [RCV003525163] | benign | X | 14844745 | 14844745 | Human | 1 | name |
| 405071714 | CV2908535 | single nucleotide variant | NM_001018113.3(FANCB):c.1105-9A>T | Fanconi anemia [RCV003523871] | likely benign | X | 14857963 | 14857963 | Human | 1 | name |
| 405080333 | CV2913786 | single nucleotide variant | NM_001018113.3(FANCB):c.1105-5A>G | Fanconi anemia [RCV003524518] | likely benign | X | 14857959 | 14857959 | Human | 1 | name |
| 405142893 | CV2936807 | single nucleotide variant | NM_001018113.3(FANCB):c.1105-7T>G | Fanconi anemia [RCV003636069] | likely benign | X | 14857961 | 14857961 | Human | 1 | name |
| 405144463 | CV2939393 | single nucleotide variant | NM_001018113.3(FANCB):c.951+13T>C | Fanconi anemia [RCV003636213] | likely benign | X | 14864547 | 14864547 | Human | 1 | name |
| 405161146 | CV3001012 | single nucleotide variant | NM_001018113.3(FANCB):c.1326+7G>C | Fanconi anemia [RCV003637633] | likely benign | X | 14853032 | 14853032 | Human | 1 | name |
| 405140071 | CV3033903 | single nucleotide variant | NM_001018113.3(FANCB):c.952-16G>A | Fanconi anemia [RCV003635746] | likely benign | X | 14859350 | 14859350 | Human | 1 | name |
| 405146449 | CV3054913 | single nucleotide variant | NM_001018113.3(FANCB):c.2165+6G>A | Fanconi anemia [RCV003636416] | uncertain significance | X | 14844497 | 14844497 | Human | 1 | name |
| 402474246 | CV3182718 | single nucleotide variant | NM_001018113.3(FANCB):c.951+19T>C | Fanconi anemia [RCV003874961] | likely benign | X | 14864541 | 14864541 | Human | 1 | name |
| 11613762 | CV338992 | single nucleotide variant | NM_001018113.3(FANCB):c.952-13C>T | Fanconi anemia [RCV002058826]|Fanconi anemia complementation group B [RCV000325870]|VACTERL association, X-linked, with or without hydrocephalus [RCV000271181] | likely benign|uncertain significance | X | 14859347 | 14859347 | Human | 3 | name |
| 597849577 | CV3793111 | single nucleotide variant | NM_001018113.3(FANCB):c.1198-9A>G | Fanconi anemia [RCV005145247] | likely benign | X | 14853176 | 14853176 | Human | 1 | name |
| 597968276 | CV3820882 | single nucleotide variant | NM_001018113.3(FANCB):c.1327-7T>G | Fanconi anemia [RCV005165723] | likely benign | X | 14850681 | 14850681 | Human | 1 | name |
| 13612995 | CV534607 | single nucleotide variant | NM_001018113.3(FANCB):c.1104+4A>G | Fanconi anemia [RCV000630929] | uncertain significance | X | 14859178 | 14859178 | Human | 1 | name |
| 14975354 | CV678988 | single nucleotide variant | NM_001018113.3(FANCB):c.2165+1G>T | Fanconi anemia complementation group B [RCV000851567] | pathogenic | X | 14844502 | 14844502 | Human | 1 | name |
| 8640389 | CV99373 | deletion | NM_001018113.3(FANCB):c.1327-3del | FANCB-related disorder [RCV004748562]|Fanconi Anemia, X-Linked [RCV000293716]|Fanconi anemia [RCV000471169]|Fanconi anemia complementation group B [RCV005229886]|Inborn genetic diseases [RCV002316226]|VACTERL with hydrocephalus [RCV000388053]|not provided [RCV00 1682765]|not specified [RCV000079365] | benign | X | 14850677 | 14850677 | Human | 4 | name , trait , alternate_id |
| 127318815 | CV1159396 | duplication | NM_001018113.3(FANCB):c.1327-12dup | Fanconi anemia [RCV001521829]|not specified [RCV001821838] | benign|likely benign | X | 14850676 | 14850677 | Human | 1 | name |
| 150337530 | CV1173548 | single nucleotide variant | NM_001018113.3(FANCB):c.1327-72C>A | not provided [RCV001541709] | benign | X | 14850746 | 14850746 | Human | | name |
| 150418942 | CV1182062 | single nucleotide variant | NM_001018113.3(FANCB):c.1496+77C>T | not provided [RCV001550820] | likely benign | X | 14850428 | 14850428 | Human | | name |
| 150430397 | CV1230859 | single nucleotide variant | NM_001018113.3(FANCB):c.-70-144A>G | not provided [RCV001641408] | benign | X | 14865724 | 14865724 | Human | | name |
| 150510255 | CV1286755 | single nucleotide variant | NM_001018113.3(FANCB):c.1497-60C>T | not provided [RCV001720990] | benign | X | 14845346 | 14845346 | Human | | name |
| 152152078 | CV1545671 | single nucleotide variant | NM_001018113.3(FANCB):c.1197+11G>A | Fanconi anemia [RCV002179607] | likely benign | X | 14857851 | 14857851 | Human | 1 | name |
| 152028825 | CV1555542 | single nucleotide variant | NM_001018113.3(FANCB):c.1326+16T>C | Fanconi anemia [RCV002185965] | likely benign | X | 14853023 | 14853023 | Human | 1 | name |
| 152111906 | CV1645978 | single nucleotide variant | NM_001018113.3(FANCB):c.1928-20G>T | Fanconi anemia [RCV002215610] | likely benign | X | 14844760 | 14844760 | Human | 1 | name |
| 153001831 | CV1684974 | single nucleotide variant | NM_001018113.3(FANCB):c.-191-13C>T | Fanconi anemia [RCV002257248] | uncertain significance | X | 14869056 | 14869056 | Human | 1 | name |
| 156000989 | CV1872854 | single nucleotide variant | NM_001018113.3(FANCB):c.1496+16C>A | Fanconi anemia [RCV003076584] | likely benign | X | 14850489 | 14850489 | Human | 1 | name |
| 156361490 | CV1904891 | single nucleotide variant | NM_001018113.3(FANCB):c.2166-14T>C | Fanconi anemia [RCV002602529] | likely benign | X | 14843995 | 14843995 | Human | 1 | name |
| 156175350 | CV2038169 | single nucleotide variant | NM_001018113.3(FANCB):c.1326+13A>G | Fanconi anemia [RCV002741992] | benign | X | 14853026 | 14853026 | Human | 1 | name |
| 156309327 | CV2123318 | single nucleotide variant | NM_001018113.3(FANCB):c.1496+14A>G | Fanconi anemia [RCV002962525] | likely benign | X | 14850491 | 14850491 | Human | 1 | name |
| 156164378 | CV2135757 | single nucleotide variant | NM_001018113.3(FANCB):c.2165+18G>A | Fanconi anemia [RCV002983127] | likely benign | X | 14844485 | 14844485 | Human | 1 | name |
| 405052037 | CV2869574 | single nucleotide variant | NM_001018113.3(FANCB):c.1104+18A>C | Fanconi anemia [RCV003522225] | likely benign | X | 14859164 | 14859164 | Human | 1 | name |
| 405078225 | CV2879186 | single nucleotide variant | NM_001018113.3(FANCB):c.1197+10T>C | Fanconi anemia [RCV003524333] | likely benign | X | 14857852 | 14857852 | Human | 1 | name |
| 405056120 | CV2885689 | single nucleotide variant | NM_001018113.3(FANCB):c.1104+11T>C | Fanconi anemia [RCV003522557] | likely benign | X | 14859171 | 14859171 | Human | 1 | name |
| 405055640 | CV2888390 | duplication | NM_001018113.3(FANCB):c.1496+18dup | Fanconi anemia [RCV003522521] | likely benign | X | 14850486 | 14850487 | Human | 1 | name |
| 404992430 | CV2890680 | single nucleotide variant | NM_001018113.3(FANCB):c.1327-10T>A | Fanconi anemia [RCV003525221] | likely benign | X | 14850684 | 14850684 | Human | 1 | name |
| 405067913 | CV2895686 | single nucleotide variant | NM_001018113.3(FANCB):c.1927+13G>C | Fanconi anemia [RCV003523504] | likely benign | X | 14844843 | 14844843 | Human | 1 | name |
| 405144107 | CV2943814 | single nucleotide variant | NM_001018113.3(FANCB):c.2165+18G>T | Fanconi anemia [RCV003636084] | likely benign | X | 14844485 | 14844485 | Human | 1 | name |
| 405145172 | CV2953898 | single nucleotide variant | NM_001018113.3(FANCB):c.1496+10T>C | Fanconi anemia [RCV003636287] | likely benign | X | 14850495 | 14850495 | Human | 1 | name |
| 405152552 | CV2963408 | single nucleotide variant | NM_001018113.3(FANCB):c.1497-20A>G | Fanconi anemia [RCV003636940] | likely benign | X | 14845306 | 14845306 | Human | 1 | name |
| 405156061 | CV2978167 | deletion | NM_001018113.3(FANCB):c.1497-18del | Fanconi anemia [RCV003637219] | likely benign | X | 14845304 | 14845304 | Human | 1 | name |
| 405163305 | CV2997068 | single nucleotide variant | NM_001018113.3(FANCB):c.1927+16C>T | Fanconi anemia [RCV003637802] | likely benign | X | 14844840 | 14844840 | Human | 1 | name |
| 405163743 | CV3008106 | single nucleotide variant | NM_001018113.3(FANCB):c.1104+20T>G | Fanconi anemia [RCV003637861] | likely benign | X | 14859162 | 14859162 | Human | 1 | name |
| 405166475 | CV3017687 | single nucleotide variant | NM_001018113.3(FANCB):c.1326+18A>G | Fanconi anemia [RCV003638108] | likely benign | X | 14853021 | 14853021 | Human | 1 | name |
| 405139542 | CV3033181 | single nucleotide variant | NM_001018113.3(FANCB):c.1105-16T>A | Fanconi anemia [RCV003635697] | likely benign | X | 14857970 | 14857970 | Human | 1 | name |
| 405147066 | CV3052006 | single nucleotide variant | NM_001018113.3(FANCB):c.2165+12T>G | Fanconi anemia [RCV003636466] | likely benign | X | 14844491 | 14844491 | Human | 1 | name |
| 405245065 | CV3161693 | single nucleotide variant | NM_001018113.3(FANCB):c.1497-12G>T | Fanconi anemia [RCV003868406] | likely benign | X | 14845298 | 14845298 | Human | 1 | name |
| 405198418 | CV3164464 | single nucleotide variant | NM_001018113.3(FANCB):c.1327-17T>G | Fanconi anemia [RCV003860521] | likely benign | X | 14850691 | 14850691 | Human | 1 | name |
| 405252090 | CV3177597 | single nucleotide variant | NM_001018113.3(FANCB):c.1104+10A>G | Fanconi anemia [RCV003870555] | likely benign | X | 14859172 | 14859172 | Human | 1 | name |
| 597872288 | CV3805298 | deletion | NM_001018113.3(FANCB):c.2166-15del | Fanconi anemia [RCV005148576] | likely benign | X | 14843996 | 14843996 | Human | 1 | name |
| 597897981 | CV3854478 | single nucleotide variant | NM_001018113.3(FANCB):c.1104+18A>G | Fanconi anemia [RCV005201585] | likely benign | X | 14859164 | 14859164 | Human | 1 | name |
| 617153904 | CV4021389 | single nucleotide variant | NM_001410764.1(FANCB):c.2604+30A>G | not provided [RCV005425358] | likely benign | X | 14797152 | 14797152 | Human | | name |
| 13467479 | CV470516 | single nucleotide variant | NM_001018113.3(FANCB):c.2165+10A>T | Fanconi anemia [RCV000554739]|Fanconi anemia complementation group B [RCV003316676] | benign | X | 14844493 | 14844493 | Human | 2 | name |
| 14975346 | CV678995 | single nucleotide variant | NM_001018113.3(FANCB):c.951+129A>C | X-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV000851557]|not provided [RCV001619841] | benign|likely benign | X | 14864431 | 14864431 | Human | 1 | name |
| 14975371 | CV679001 | single nucleotide variant | NM_001018113.3(FANCB):c.-70-246C>T | X-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV000851551]|not provided [RCV001644841] | benign|likely benign | X | 14865826 | 14865826 | Human | 1 | name |
| 8640388 | CV99372 | single nucleotide variant | NM_001018113.3(FANCB):c.1327-10T>C | Fanconi anemia [RCV000860237]|Fanconi anemia complementation group B [RCV000348663]|VACTERL association, X-linked, with or without hydrocephalus [RCV000394031]|X-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV000851560]|not provided [RCV001711366]|not specified [ RCV000079364] | benign|likely benign | X | 14850684 | 14850684 | Human | 4 | name |
| 150409227 | CV1192457 | duplication | NM_001018113.3(FANCB):c.2166-229dup | not provided [RCV001565598] | likely benign | X | 14844202 | 14844203 | Human | | name |
| 150485765 | CV1223068 | duplication | NM_001018113.3(FANCB):c.1496+148dup | not provided [RCV001617781] | benign | X | 14850349 | 14850350 | Human | | name |
| 150444437 | CV1266530 | single nucleotide variant | NM_001018113.3(FANCB):c.2165+138A>G | not provided [RCV001690967] | benign | X | 14844365 | 14844365 | Human | | name |
| 14975356 | CV678986 | single nucleotide variant | NM_001018113.3(FANCB):c.2166-176A>G | X-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV000851569]|not provided [RCV001595045] | benign|likely benign | X | 14844157 | 14844157 | Human | 1 | name |
| 14975355 | CV678987 | single nucleotide variant | NM_001018113.3(FANCB):c.2166-186T>C | X-linked central congenital hypothyroidism with late-onset testicular enlargement [RCV000851568]|not provided [RCV001655609] | benign|likely benign | X | 14844167 | 14844167 | Human | 1 | name |
| 616936060 | CV4014313 | single nucleotide variant | NM_001410764.1(FANCB):c.2487+7418C>G | not provided [RCV005413807] | likely benign | X | 14836242 | 14836242 | Human | | name |
| 14975340 | CV679002 | duplication | NM_152633.4(FANCB):c.-70-3463_951dup | Fanconi anemia complementation group B [RCV000851549] | uncertain significance | X | 14864559 | 14864560 | Human | 1 | name |
| 9687289 | CV177703 | microsatellite | NM_001018113.3(FANCB):c.1105-26TATT[7] | Fanconi anemia [RCV000200154]|Fanconi anemia complementation group B [RCV005229984]|Inborn genetic diseases [RCV002426730]|not specified [RCV000153229] | likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity | X | 14857956 | 14857957 | Human | | name |
| 11642475 | CV265613 | microsatellite | NM_001018113.3(FANCB):c.1105-26TATT[4] | FANCB-related disorder [RCV003955428]|Fanconi anemia [RCV002059078]|Fanconi anemia complementation group B [RCV002502093]|Inborn genetic diseases [RCV002450802]|not specified [RCV000376235] | benign|likely benign | X | 14857957 | 14857964 | Human | | name , trait , alternate_id |
| 15113960 | CV695893 | microsatellite | NM_001018113.3(FANCB):c.1105-26TATT[5] | FANCB-related disorder [RCV003930401]|Fanconi anemia [RCV000872856] | likely benign | X | 14857957 | 14857960 | Human | | name , trait , alternate_id |
| 127245703 | CV1086308 | single nucleotide variant | NM_001018113.3(FANCB):c.18A>G (p.Ala6=) | Fanconi anemia [RCV001416555] | likely benign | X | 14865493 | 14865493 | Human | 1 | name |
| 155995908 | CV2034947 | single nucleotide variant | NM_001018113.3(FANCB):c.30C>T (p.Asn10=) | Fanconi anemia [RCV002755959] | likely benign | X | 14865481 | 14865481 | Human | 1 | name |
| 405052372 | CV2880404 | single nucleotide variant | NM_001018113.3(FANCB):c.93T>C (p.Asn31=) | Fanconi anemia [RCV003522254]|not provided [RCV004598268] | likely benign | X | 14865418 | 14865418 | Human | 1 | name |
| 404986552 | CV2920838 | deletion | NM_001018113.3(FANCB):c.1928-6_1928-5del | Fanconi anemia [RCV003524603] | benign | X | 14844745 | 14844746 | Human | 1 | name |
| 11628787 | CV348562 | single nucleotide variant | NM_001018113.3(FANCB):c.69T>C (p.Leu23=) | Fanconi anemia [RCV001081437]|Fanconi anemia complementation group B [RCV000309558]|VACTERL association, X-linked, with or without hydrocephalus [RCV000398187]|not provided [RCV000762608] | benign|likely benign | X | 14865442 | 14865442 | Human | 3 | name |
| 597885795 | CV3854844 | single nucleotide variant | NM_001018113.3(FANCB):c.42G>A (p.Arg14=) | Fanconi anemia [RCV005199689] | likely benign | X | 14865469 | 14865469 | Human | 1 | name |
| 13498831 | CV471781 | single nucleotide variant | NM_001018113.3(FANCB):c.7A>G (p.Ser3Gly) | Fanconi anemia [RCV000530363] | likely benign|uncertain significance | X | 14865504 | 14865504 | Human | 1 | name |
| 150540672 | CV1296064 | single nucleotide variant | NM_001018113.3(FANCB):c.21G>C (p.Met7Ile) | not provided [RCV001760533] | uncertain significance | X | 14865490 | 14865490 | Human | | name |
| 151786316 | CV1348900 | single nucleotide variant | NM_001018113.3(FANCB):c.16G>A (p.Ala6Thr) | Fanconi anemia [RCV001897727] | uncertain significance | X | 14865495 | 14865495 | Human | 1 | name |
| 151814784 | CV1360619 | single nucleotide variant | NM_001018113.3(FANCB):c.17C>A (p.Ala6Glu) | Fanconi anemia [RCV001878630] | uncertain significance | X | 14865494 | 14865494 | Human | 1 | name |
| 152033133 | CV1610289 | single nucleotide variant | NM_001018113.3(FANCB):c.111T>C (p.Pro37=) | Fanconi anemia [RCV002124878] | benign | X | 14865400 | 14865400 | Human | 1 | name |
| 152114834 | CV1640830 | single nucleotide variant | NM_001018113.3(FANCB):c.162A>G (p.Thr54=) | Fanconi anemia [RCV002117042] | likely benign | X | 14865349 | 14865349 | Human | 1 | name |
| 155974456 | CV2079420 | single nucleotide variant | NM_001018113.3(FANCB):c.123C>T (p.Pro41=) | Fanconi anemia [RCV002881638] | likely benign | X | 14865388 | 14865388 | Human | 1 | name |
| 156059361 | CV2154882 | single nucleotide variant | NM_001018113.3(FANCB):c.192T>C (p.Phe64=) | Fanconi anemia [RCV003000146] | likely benign | X | 14865319 | 14865319 | Human | 1 | name |
| 401944327 | CV2840736 | single nucleotide variant | NM_001018113.3(FANCB):c.25T>C (p.Ser9Pro) | not provided [RCV003457178] | uncertain significance | X | 14865486 | 14865486 | Human | | name |
| 404989661 | CV2886044 | single nucleotide variant | NM_001018113.3(FANCB):c.153C>T (p.Asp51=) | Fanconi anemia [RCV003524890] | benign | X | 14865358 | 14865358 | Human | 1 | name |
| 404991037 | CV2886889 | single nucleotide variant | NM_001018113.3(FANCB):c.207A>G (p.Glu69=) | Fanconi anemia [RCV003525062] | likely benign | X | 14865304 | 14865304 | Human | 1 | name |
| 405064443 | CV2901780 | single nucleotide variant | NM_001018113.3(FANCB):c.23C>T (p.Ser8Leu) | Fanconi anemia [RCV003523380] | uncertain significance | X | 14865488 | 14865488 | Human | 1 | name |
| 405144912 | CV2957289 | single nucleotide variant | NM_001018113.3(FANCB):c.171T>C (p.Phe57=) | Fanconi anemia [RCV003636255] | likely benign | X | 14865340 | 14865340 | Human | 1 | name |
| 405145287 | CV2960872 | single nucleotide variant | NM_001018113.3(FANCB):c.291A>G (p.Glu97=) | Fanconi anemia [RCV003636299] | likely benign | X | 14865220 | 14865220 | Human | 1 | name |
| 405139760 | CV3033473 | single nucleotide variant | NM_001018113.3(FANCB):c.273C>T (p.Leu91=) | Fanconi anemia [RCV003635716] | likely benign | X | 14865238 | 14865238 | Human | 1 | name |
| 405290062 | CV3214099 | single nucleotide variant | NM_001018113.3(FANCB):c.285G>A (p.Val95=) | FANCB-related disorder [RCV003926936] | likely benign | X | 14865226 | 14865226 | Human | | name , trait , alternate_id |
| 597947264 | CV3841886 | single nucleotide variant | NM_001018113.3(FANCB):c.129A>G (p.Leu43=) | Fanconi anemia [RCV005189320] | likely benign | X | 14865382 | 14865382 | Human | 1 | name |
| 15178818 | CV773822 | single nucleotide variant | NM_001018113.3(FANCB):c.177G>A (p.Gln59=) | Fanconi anemia [RCV001483438] | likely benign | X | 14865334 | 14865334 | Human | 1 | name |
| 28880310 | CV902843 | single nucleotide variant | NM_001018113.3(FANCB):c.183C>T (p.Ser61=) | Fanconi anemia [RCV001466611]|Fanconi anemia complementation group B [RCV001167292]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167293] | likely benign|uncertain significance | X | 14865328 | 14865328 | Human | 3 | name |
| 127267393 | CV1108054 | single nucleotide variant | NM_001018113.3(FANCB):c.708G>A (p.Val236=) | Fanconi anemia [RCV001429672] | likely benign | X | 14864803 | 14864803 | Human | 1 | name |
| 127303932 | CV1150458 | single nucleotide variant | NM_001018113.3(FANCB):c.318A>G (p.Glu106=) | Fanconi anemia [RCV001499513] | likely benign | X | 14865193 | 14865193 | Human | 1 | name |
| 127318001 | CV1159397 | single nucleotide variant | NM_001018113.3(FANCB):c.774C>G (p.Ala258=) | Fanconi anemia [RCV001521452] | benign | X | 14864737 | 14864737 | Human | 1 | name |
| 150553943 | CV1309621 | microsatellite | NM_001018113.3(FANCB):c.1197+19_1197+21del | Fanconi anemia [RCV002074046]|not provided [RCV003238666] | benign|uncertain significance | X | 14857841 | 14857843 | Human | | name |
| 151802642 | CV1437623 | single nucleotide variant | NM_001018113.3(FANCB):c.76C>G (p.Gln26Glu) | Fanconi anemia [RCV001899201]|Fanconi anemia complementation group B [RCV005040447] | uncertain significance | X | 14865435 | 14865435 | Human | 2 | name |
| 152166662 | CV1524425 | single nucleotide variant | NM_001018113.3(FANCB):c.990A>T (p.Ile330=) | Fanconi anemia [RCV002141970] | likely benign | X | 14859296 | 14859296 | Human | 1 | name |
| 152139076 | CV1549634 | deletion | NM_001018113.3(FANCB):c.1197+13_1197+15del | Fanconi anemia [RCV002156526] | likely benign | X | 14857847 | 14857849 | Human | 1 | name |
| 152139564 | CV1562840 | deletion | NM_001018113.3(FANCB):c.1327-19_1327-16del | Fanconi anemia [RCV002100582] | likely benign | X | 14850690 | 14850693 | Human | 1 | name |
| 152061419 | CV1597200 | single nucleotide variant | NM_001018113.3(FANCB):c.667T>C (p.Leu223=) | Fanconi anemia [RCV002208697] | likely benign | X | 14864844 | 14864844 | Human | 1 | name |
| 152042272 | CV1603409 | single nucleotide variant | NM_001018113.3(FANCB):c.939A>G (p.Lys313=) | FANCB-related disorder [RCV003941257]|Fanconi anemia [RCV002071174] | likely benign | X | 14864572 | 14864572 | Human | 1 | name , trait , alternate_id |
| 152157502 | CV1615939 | single nucleotide variant | NM_001018113.3(FANCB):c.885A>G (p.Gly295=) | Fanconi anemia [RCV002159040] | likely benign | X | 14864626 | 14864626 | Human | 1 | name |
| 156021631 | CV1882373 | single nucleotide variant | NM_001018113.3(FANCB):c.381C>T (p.Gly127=) | Fanconi anemia [RCV003077649] | likely benign | X | 14865130 | 14865130 | Human | 1 | name |
| 156413016 | CV1891519 | deletion | NM_001018113.3(FANCB):c.1326+13_1326+14del | Fanconi anemia [RCV003073122] | likely benign | X | 14853025 | 14853026 | Human | 1 | name |
| 156019561 | CV1914934 | single nucleotide variant | NM_001018113.3(FANCB):c.699C>T (p.Tyr233=) | Fanconi anemia [RCV002636640] | likely benign | X | 14864812 | 14864812 | Human | 1 | name |
| 156180405 | CV1924442 | single nucleotide variant | NM_001018113.3(FANCB):c.53A>T (p.Tyr18Phe) | Fanconi anemia [RCV002625020] | uncertain significance | X | 14865458 | 14865458 | Human | 1 | name |
| 156092390 | CV1963415 | single nucleotide variant | NM_001018113.3(FANCB):c.300A>G (p.Lys100=) | Fanconi anemia [RCV002570271] | likely benign | X | 14865211 | 14865211 | Human | 1 | name |
| 156113891 | CV1985084 | single nucleotide variant | NM_001018113.3(FANCB):c.795G>T (p.Leu265=) | Fanconi anemia [RCV002622685] | likely benign | X | 14864716 | 14864716 | Human | 1 | name |
| 156405651 | CV1994511 | single nucleotide variant | NM_001018113.3(FANCB):c.64G>A (p.Val22Ile) | Fanconi anemia [RCV002658359]|Inborn genetic diseases [RCV004066728] | uncertain significance | X | 14865447 | 14865447 | Human | 2 | name |
| 156203241 | CV2034832 | single nucleotide variant | NM_001018113.3(FANCB):c.591T>G (p.Thr197=) | Fanconi anemia [RCV002766319] | likely benign | X | 14864920 | 14864920 | Human | 1 | name |
| 156107923 | CV2072407 | single nucleotide variant | NM_001018113.3(FANCB):c.468A>G (p.Gln156=) | Fanconi anemia [RCV002870784] | likely benign | X | 14865043 | 14865043 | Human | 1 | name |
| 156121073 | CV2078006 | single nucleotide variant | NM_001018113.3(FANCB):c.417C>G (p.Gly139=) | Fanconi anemia [RCV002889564] | likely benign | X | 14865094 | 14865094 | Human | 1 | name |
| 156017479 | CV2083622 | single nucleotide variant | NM_001018113.3(FANCB):c.906C>T (p.Ser302=) | Fanconi anemia [RCV002866433] | likely benign | X | 14864605 | 14864605 | Human | 1 | name |
| 155984372 | CV2101328 | single nucleotide variant | NM_001018113.3(FANCB):c.501T>C (p.Phe167=) | Fanconi anemia [RCV002882085] | likely benign | X | 14865010 | 14865010 | Human | 1 | name |
| 156366203 | CV2130659 | single nucleotide variant | NM_001018113.3(FANCB):c.41G>A (p.Arg14Lys) | Fanconi anemia [RCV002967325]|Fanconi anemia complementation group B [RCV005045120]|Inborn genetic diseases [RCV004068318] | likely benign|uncertain significance | X | 14865470 | 14865470 | Human | 3 | name |
| 156176024 | CV2278258 | single nucleotide variant | NM_001018113.3(FANCB):c.63A>C (p.Glu21Asp) | Inborn genetic diseases [RCV002873384] | uncertain significance | X | 14865448 | 14865448 | Human | 1 | name |
| 156015388 | CV2298794 | single nucleotide variant | NM_001018113.3(FANCB):c.38A>C (p.Glu13Ala) | Inborn genetic diseases [RCV002884494] | uncertain significance | X | 14865473 | 14865473 | Human | 1 | name |
| 11523039 | CV245223 | single nucleotide variant | NM_001018113.3(FANCB):c.507T>C (p.Ser169=) | FANCB-related disorder [RCV003955391]|Fanconi anemia [RCV000235236]|not provided [RCV003237800]|not specified [RCV001820790] | benign|likely benign | X | 14865004 | 14865004 | Human | 1 | name , trait , alternate_id |
| 401940912 | CV2837725 | single nucleotide variant | NM_001018113.3(FANCB):c.83C>G (p.Ser28Cys) | Fanconi anemia [RCV005100159]|Fanconi anemia complementation group B [RCV003460177] | uncertain significance | X | 14865428 | 14865428 | Human | 2 | name |
| 405078255 | CV2875507 | single nucleotide variant | NM_001018113.3(FANCB):c.41G>C (p.Arg14Thr) | Fanconi anemia [RCV003524336] | uncertain significance | X | 14865470 | 14865470 | Human | 1 | name |
| 405076054 | CV2877653 | single nucleotide variant | NM_001018113.3(FANCB):c.987G>C (p.Leu329=) | Fanconi anemia [RCV003524165] | likely benign | X | 14859299 | 14859299 | Human | 1 | name |
| 405051597 | CV2879915 | single nucleotide variant | NM_001018113.3(FANCB):c.744C>A (p.Ile248=) | Fanconi anemia [RCV003522187] | likely benign | X | 14864767 | 14864767 | Human | 1 | name |
| 404990000 | CV2886287 | single nucleotide variant | NM_001018113.3(FANCB):c.378A>G (p.Leu126=) | Fanconi anemia [RCV003524954] | likely benign | X | 14865133 | 14865133 | Human | 1 | name |
| 404992002 | CV2887375 | single nucleotide variant | NM_001018113.3(FANCB):c.480T>A (p.Val160=) | Fanconi anemia [RCV003525164] | likely benign | X | 14865031 | 14865031 | Human | 1 | name |
| 405058005 | CV2888783 | microsatellite | NM_001018113.3(FANCB):c.1104+20_1104+22del | Fanconi anemia [RCV003522603] | likely benign | X | 14859160 | 14859162 | Human | | name |
| 405055295 | CV2891884 | single nucleotide variant | NM_001018113.3(FANCB):c.447A>T (p.Ala149=) | Fanconi anemia [RCV003522497] | likely benign | X | 14865064 | 14865064 | Human | 1 | name |
| 405066208 | CV2895901 | single nucleotide variant | NM_001018113.3(FANCB):c.864A>G (p.Gln288=) | Fanconi anemia [RCV003523514] | benign | X | 14864647 | 14864647 | Human | 1 | name |
| 405068137 | CV2903379 | single nucleotide variant | NM_001018113.3(FANCB):c.852T>C (p.Pro284=) | Fanconi anemia [RCV003523627] | likely benign | X | 14864659 | 14864659 | Human | 1 | name |
| 405079705 | CV2909018 | single nucleotide variant | NM_001018113.3(FANCB):c.795G>A (p.Leu265=) | Fanconi anemia [RCV003524465] | likely benign | X | 14864716 | 14864716 | Human | 1 | name |
| 405057676 | CV2922890 | deletion | NM_001018113.3(FANCB):c.1496+19_1496+21del | Fanconi anemia [RCV003522707] | likely benign | X | 14850484 | 14850486 | Human | 1 | name |
| 405057855 | CV2932427 | single nucleotide variant | NM_001018113.3(FANCB):c.666A>G (p.Val222=) | Fanconi anemia [RCV003522721] | likely benign | X | 14864845 | 14864845 | Human | 1 | name |
| 405154481 | CV2972991 | single nucleotide variant | NM_001018113.3(FANCB):c.615T>C (p.Tyr205=) | Fanconi anemia [RCV003637091] | likely benign | X | 14864896 | 14864896 | Human | 1 | name |
| 405153595 | CV2975147 | single nucleotide variant | NM_001018113.3(FANCB):c.603A>C (p.Ser201=) | Fanconi anemia [RCV003637024] | likely benign | X | 14864908 | 14864908 | Human | 1 | name |
| 405163089 | CV3000218 | single nucleotide variant | NM_001018113.3(FANCB):c.339C>T (p.His113=) | Fanconi anemia [RCV003637785] | likely benign | X | 14865172 | 14865172 | Human | 1 | name |
| 405137557 | CV3026575 | single nucleotide variant | NM_001018113.3(FANCB):c.702C>T (p.Ser234=) | Fanconi anemia [RCV003635497] | benign | X | 14864809 | 14864809 | Human | 1 | name |
| 405140777 | CV3043491 | single nucleotide variant | NM_001018113.3(FANCB):c.49T>C (p.Cys17Arg) | Fanconi anemia [RCV003635814] | uncertain significance | X | 14865462 | 14865462 | Human | 1 | name |
| 405141211 | CV3043775 | single nucleotide variant | NM_001018113.3(FANCB):c.77A>G (p.Gln26Arg) | Fanconi anemia [RCV003635855]|Fanconi anemia complementation group B [RCV005047802] | uncertain significance | X | 14865434 | 14865434 | Human | 2 | name |
| 405151317 | CV3070419 | single nucleotide variant | NM_001018113.3(FANCB):c.447A>G (p.Ala149=) | Fanconi anemia [RCV003636846] | likely benign | X | 14865064 | 14865064 | Human | 1 | name |
| 405160447 | CV3077404 | microsatellite | NM_001018113.3(FANCB):c.2166-15_2166-12del | Fanconi anemia [RCV003637573] | likely benign | X | 14843993 | 14843996 | Human | | name |
| 405031373 | CV3130238 | single nucleotide variant | NM_001018113.3(FANCB):c.720A>G (p.Val240=) | Fanconi anemia [RCV003830645] | likely benign | X | 14864791 | 14864791 | Human | 1 | name |
| 405228870 | CV3153407 | single nucleotide variant | NM_001018113.3(FANCB):c.876A>G (p.Ser292=) | Fanconi anemia [RCV003848471] | likely benign | X | 14864635 | 14864635 | Human | 1 | name |
| 405247271 | CV3158738 | single nucleotide variant | NM_001018113.3(FANCB):c.372T>C (p.Phe124=) | Fanconi anemia [RCV003869080] | likely benign | X | 14865139 | 14865139 | Human | 1 | name |
| 405247649 | CV3159009 | single nucleotide variant | NM_001018113.3(FANCB):c.408C>T (p.Val136=) | Fanconi anemia [RCV003869154] | likely benign | X | 14865103 | 14865103 | Human | 1 | name |
| 405237521 | CV3166643 | single nucleotide variant | NM_001018113.3(FANCB):c.483T>C (p.Val161=) | Fanconi anemia [RCV003854093] | likely benign | X | 14865028 | 14865028 | Human | 1 | name |
| 405227138 | CV3169542 | single nucleotide variant | NM_001018113.3(FANCB):c.735T>C (p.Thr245=) | Fanconi anemia [RCV003864566] | likely benign | X | 14864776 | 14864776 | Human | 1 | name |
| 402474119 | CV3172261 | single nucleotide variant | NM_001018113.3(FANCB):c.417C>A (p.Gly139=) | Fanconi anemia [RCV003874864] | likely benign | X | 14865094 | 14865094 | Human | 1 | name |
| 405252168 | CV3177641 | single nucleotide variant | NM_001018113.3(FANCB):c.681C>T (p.Tyr227=) | Fanconi anemia [RCV003870599] | likely benign | X | 14864830 | 14864830 | Human | 1 | name |
| 11627243 | CV352102 | single nucleotide variant | NM_001018113.3(FANCB):c.402A>G (p.Leu134=) | Fanconi anemia [RCV000470748]|Fanconi anemia complementation group B [RCV000373701]|History of neurodevelopmental disorder [RCV000721057]|VACTERL association, X-linked, with or without hydrocephalus [RCV000279173]|not specified [RCV001821127] | benign|likely benign | X | 14865109 | 14865109 | Human | 3 | name |
| 597941250 | CV3785745 | single nucleotide variant | NM_001018113.3(FANCB):c.726T>A (p.Ile242=) | Fanconi anemia [RCV005133637] | likely benign | X | 14864785 | 14864785 | Human | 1 | name |
| 597950634 | CV3846978 | single nucleotide variant | NM_001018113.3(FANCB):c.465T>C (p.Ser155=) | Fanconi anemia [RCV005190149] | likely benign | X | 14865046 | 14865046 | Human | 1 | name |
| 597937885 | CV3862799 | single nucleotide variant | NM_001018113.3(FANCB):c.31G>A (p.Glu11Lys) | Fanconi anemia [RCV005208072] | uncertain significance | X | 14865480 | 14865480 | Human | 1 | name |
| 13468837 | CV471324 | single nucleotide variant | NM_001018113.3(FANCB):c.897C>T (p.Phe299=) | Fanconi anemia [RCV000560050] | benign | X | 14864614 | 14864614 | Human | 1 | name |
| 13499268 | CV471332 | single nucleotide variant | NM_001018113.3(FANCB):c.52T>C (p.Tyr18His) | Fanconi anemia [RCV000532263]|Fanconi anemia complementation group B [RCV004783803] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | X | 14865459 | 14865459 | Human | 2 | name |
| 13467229 | CV471774 | single nucleotide variant | NM_001018113.3(FANCB):c.330A>C (p.Leu110=) | Fanconi anemia [RCV000553960]|Fanconi anemia complementation group B [RCV002490945]|Fanconi anemia complementation group B [RCV003316677]|not provided [RCV004808748] | benign|likely benign | X | 14865181 | 14865181 | Human | 2 | name |
| 13500921 | CV471777 | single nucleotide variant | NM_001018113.3(FANCB):c.30C>A (p.Asn10Lys) | Fanconi anemia [RCV000538919] | benign|likely benign|uncertain significance | X | 14865481 | 14865481 | Human | 1 | name |
| 13466890 | CV472072 | single nucleotide variant | NM_001018113.3(FANCB):c.741C>A (p.Ile247=) | Fanconi anemia [RCV000552940] | likely benign | X | 14864770 | 14864770 | Human | 1 | name |
| 13613115 | CV534564 | single nucleotide variant | NM_001018113.3(FANCB):c.960T>G (p.Ala320=) | Fanconi anemia [RCV000630984] | benign | X | 14859326 | 14859326 | Human | 1 | name |
| 13809737 | CV575342 | single nucleotide variant | NM_001018113.3(FANCB):c.552G>A (p.Leu184=) | FANCB-related disorder [RCV003965438]|Fanconi anemia [RCV000687904] | benign|likely benign|uncertain significance | X | 14864959 | 14864959 | Human | 1 | name , trait , alternate_id |
| 14975342 | CV678999 | duplication | NM_001018113.3(FANCB):c.195dup (p.Thr66fs) | Fanconi anemia complementation group B [RCV000851553] | pathogenic | X | 14865315 | 14865316 | Human | 1 | name |
| 15143925 | CV689363 | single nucleotide variant | NM_001018113.3(FANCB):c.801A>C (p.Ser267=) | Fanconi anemia [RCV000865820] | likely benign | X | 14864710 | 14864710 | Human | 1 | name |
| 15160626 | CV689364 | single nucleotide variant | NM_001018113.3(FANCB):c.609A>C (p.Ser203=) | Fanconi anemia [RCV001499155] | likely benign | X | 14864902 | 14864902 | Human | 1 | name |
| 15162456 | CV689365 | single nucleotide variant | NM_001018113.3(FANCB):c.513G>A (p.Gln171=) | Fanconi anemia [RCV000869427] | benign | X | 14864998 | 14864998 | Human | 1 | name |
| 15098425 | CV689366 | single nucleotide variant | NM_001018113.3(FANCB):c.504C>G (p.Ser168=) | Fanconi anemia [RCV000869696]|Fanconi anemia complementation group B [RCV002495289] | benign|likely benign | X | 14865007 | 14865007 | Human | 2 | name |
| 15142445 | CV689367 | single nucleotide variant | NM_001018113.3(FANCB):c.376C>T (p.Leu126=) | Fanconi anemia [RCV001421963] | likely benign | X | 14865135 | 14865135 | Human | 1 | name |
| 15158579 | CV758316 | single nucleotide variant | NM_001018113.3(FANCB):c.831C>T (p.Cys277=) | not provided [RCV000925100] | likely benign | X | 14864680 | 14864680 | Human | | name |
| 26918819 | CV849701 | single nucleotide variant | NM_001018113.3(FANCB):c.30C>G (p.Asn10Lys) | Fanconi anemia [RCV001058310] | uncertain significance | X | 14865481 | 14865481 | Human | 1 | name |
| 126739677 | CV1014787 | single nucleotide variant | NM_001018113.3(FANCB):c.292A>G (p.Lys98Glu) | Fanconi anemia [RCV001325087] | uncertain significance | X | 14865219 | 14865219 | Human | 1 | name |
| 127270374 | CV1086307 | single nucleotide variant | NM_001018113.3(FANCB):c.197C>T (p.Thr66Ile) | Fanconi anemia [RCV001404964] | likely benign | X | 14865314 | 14865314 | Human | 1 | name |
| 127272973 | CV1108053 | single nucleotide variant | NM_001018113.3(FANCB):c.1767A>G (p.Thr589=) | Fanconi anemia [RCV001431490]|Fanconi anemia complementation group B [RCV002504711]|not provided [RCV003438793] | likely benign | X | 14845016 | 14845016 | Human | 2 | name |
| 127307308 | CV1129422 | single nucleotide variant | NM_001018113.3(FANCB):c.2193T>G (p.Leu731=) | Fanconi anemia [RCV001462976] | likely benign | X | 14843954 | 14843954 | Human | 1 | name |
| 127332151 | CV1150456 | single nucleotide variant | NM_001018113.3(FANCB):c.2142A>G (p.Glu714=) | Fanconi anemia [RCV001489324] | likely benign | X | 14844526 | 14844526 | Human | 1 | name |
| 127315182 | CV1159395 | single nucleotide variant | NM_001018113.3(FANCB):c.2553T>C (p.Phe851=) | Fanconi anemia [RCV001519912] | benign | X | 14843594 | 14843594 | Human | 1 | name |
| 150551878 | CV1296285 | single nucleotide variant | NM_001018113.3(FANCB):c.101A>T (p.Asp34Val) | Inborn genetic diseases [RCV004040135]|not provided [RCV001767295] | conflicting interpretations of pathogenicity|uncertain significance | X | 14865410 | 14865410 | Human | 1 | name |
| 150553942 | CV1309620 | single nucleotide variant | NM_001018113.3(FANCB):c.164A>G (p.Lys55Arg) | not provided [RCV003238665] | uncertain significance | X | 14865347 | 14865347 | Human | | name |
| 151356286 | CV1329050 | single nucleotide variant | NM_001018113.3(FANCB):c.2265A>G (p.Leu755=) | Fanconi anemia [RCV002074362]|not specified [RCV001822639] | benign|likely benign | X | 14843882 | 14843882 | Human | 1 | name |
| 151769254 | CV1410564 | single nucleotide variant | NM_001018113.3(FANCB):c.1800A>G (p.Gln600=) | Fanconi anemia [RCV001988079] | uncertain significance | X | 14844983 | 14844983 | Human | 1 | name |
| 151724337 | CV1437052 | single nucleotide variant | NM_001018113.3(FANCB):c.245T>C (p.Val82Ala) | Fanconi anemia [RCV002004081] | uncertain significance | X | 14865266 | 14865266 | Human | 1 | name |
| 151871979 | CV1437177 | single nucleotide variant | NM_001018113.3(FANCB):c.203A>G (p.Lys68Arg) | Fanconi anemia [RCV002035790] | uncertain significance | X | 14865308 | 14865308 | Human | 1 | name |
| 151850569 | CV1448467 | single nucleotide variant | NM_001018113.3(FANCB):c.113C>T (p.Thr38Ile) | Fanconi anemia [RCV001957927]|Fanconi anemia complementation group B [RCV005042563] | uncertain significance | X | 14865398 | 14865398 | Human | 2 | name |
| 151806397 | CV1482354 | single nucleotide variant | NM_001018113.3(FANCB):c.1323G>A (p.Glu441=) | Fanconi anemia [RCV002048447] | likely benign | X | 14853042 | 14853042 | Human | 1 | name |
| 152057756 | CV1523237 | single nucleotide variant | NM_001018113.3(FANCB):c.2433C>G (p.Pro811=) | Fanconi anemia [RCV002167650] | likely benign | X | 14843714 | 14843714 | Human | 1 | name |
| 152083494 | CV1525333 | single nucleotide variant | NM_001018113.3(FANCB):c.1626A>G (p.Pro542=) | Fanconi anemia [RCV002131130] | likely benign | X | 14845157 | 14845157 | Human | 1 | name |
| 152069668 | CV1535455 | single nucleotide variant | NM_001018113.3(FANCB):c.1191A>G (p.Gly397=) | Fanconi anemia [RCV002091412] | likely benign | X | 14857868 | 14857868 | Human | 1 | name |
| 152141788 | CV1538107 | single nucleotide variant | NM_001018113.3(FANCB):c.1080G>C (p.Thr360=) | Fanconi anemia [RCV002219471] | likely benign | X | 14859206 | 14859206 | Human | 1 | name |
| 152138564 | CV1570925 | single nucleotide variant | NM_001018113.3(FANCB):c.1746A>G (p.Thr582=) | Fanconi anemia [RCV002120042] | likely benign | X | 14845037 | 14845037 | Human | 1 | name |
| 152086955 | CV1571514 | single nucleotide variant | NM_001018113.3(FANCB):c.2391C>T (p.Val797=) | Fanconi anemia [RCV002131546] | benign | X | 14843756 | 14843756 | Human | 1 | name |
| 152083677 | CV1576868 | single nucleotide variant | NM_001018113.3(FANCB):c.1149A>G (p.Lys383=) | Fanconi anemia [RCV002193351] | benign | X | 14857910 | 14857910 | Human | 1 | name |
| 152117704 | CV1601000 | single nucleotide variant | NM_001018113.3(FANCB):c.1314A>C (p.Ser438=) | Fanconi anemia [RCV002097720] | likely benign | X | 14853051 | 14853051 | Human | 1 | name |
| 152049509 | CV1602419 | single nucleotide variant | NM_001018113.3(FANCB):c.2517T>C (p.Thr839=) | Fanconi anemia [RCV002127063] | likely benign | X | 14843630 | 14843630 | Human | 1 | name |
| 152086674 | CV1608405 | single nucleotide variant | NM_001018113.3(FANCB):c.2391C>G (p.Val797=) | Fanconi anemia [RCV002212135] | likely benign | X | 14843756 | 14843756 | Human | 1 | name |
| 152122313 | CV1613354 | single nucleotide variant | NM_001018113.3(FANCB):c.2385T>C (p.Ser795=) | Fanconi anemia [RCV002154419]|Fanconi anemia complementation group B [RCV002494483] | likely benign | X | 14843762 | 14843762 | Human | 2 | name |
| 152082553 | CV1641551 | single nucleotide variant | NM_001018113.3(FANCB):c.2241A>C (p.Leu747=) | Fanconi anemia [RCV002211610] | likely benign | X | 14843906 | 14843906 | Human | 1 | name |
| 152159933 | CV1642300 | single nucleotide variant | NM_001018113.3(FANCB):c.1992A>T (p.Ser664=) | Fanconi anemia [RCV002103605] | likely benign | X | 14844676 | 14844676 | Human | 1 | name |
| 152028320 | CV1655179 | single nucleotide variant | NM_001018113.3(FANCB):c.1566G>A (p.Lys522=) | Fanconi anemia [RCV002105193] | likely benign | X | 14845217 | 14845217 | Human | 1 | name |
| 153001826 | CV1684968 | single nucleotide variant | NM_001018113.3(FANCB):c.124A>G (p.Ile42Val) | Fanconi anemia [RCV002257244] | uncertain significance | X | 14865387 | 14865387 | Human | 1 | name |
| 153001827 | CV1684969 | insertion | NM_001018113.3(FANCB):c.1327-11_1327-10insC | Fanconi anemia [RCV002257245] | conflicting interpretations of pathogenicity|uncertain significance | X | 14850684 | 14850685 | Human | 1 | name |
| 153001828 | CV1684970 | single nucleotide variant | NM_001018113.3(FANCB):c.1383T>C (p.Asp461=) | Fanconi anemia [RCV002257246] | likely benign | X | 14850618 | 14850618 | Human | 1 | name |
| 153305479 | CV1688564 | single nucleotide variant | NM_001018113.3(FANCB):c.230T>C (p.Met77Thr) | not specified [RCV002266300] | uncertain significance | X | 14865281 | 14865281 | Human | | name |
| 156391519 | CV1872869 | single nucleotide variant | NM_001018113.3(FANCB):c.1428G>A (p.Glu476=) | Fanconi anemia [RCV003051375] | likely benign | X | 14850573 | 14850573 | Human | 1 | name |
| 155954311 | CV1876581 | single nucleotide variant | NM_001018113.3(FANCB):c.1683G>A (p.Glu561=) | Fanconi anemia [RCV003074325] | likely benign | X | 14845100 | 14845100 | Human | 1 | name |
| 156367288 | CV1902793 | single nucleotide variant | NM_001018113.3(FANCB):c.1611A>G (p.Ala537=) | Fanconi anemia [RCV003092152] | likely benign | X | 14845172 | 14845172 | Human | 1 | name |
| 156301886 | CV1916144 | single nucleotide variant | NM_001018113.3(FANCB):c.2496T>A (p.Gly832=) | Fanconi anemia [RCV002599212] | likely benign | X | 14843651 | 14843651 | Human | 1 | name |
| 156419307 | CV1923313 | single nucleotide variant | NM_001018113.3(FANCB):c.2397G>A (p.Ala799=) | Fanconi anemia [RCV002612535] | likely benign | X | 14843750 | 14843750 | Human | 1 | name |
| 156410860 | CV1929154 | single nucleotide variant | NM_001018113.3(FANCB):c.1234C>T (p.Leu412=) | Fanconi anemia [RCV002608006] | benign | X | 14853131 | 14853131 | Human | 1 | name |
| 156224448 | CV1934464 | single nucleotide variant | NM_001018113.3(FANCB):c.2139C>T (p.Phe713=) | Fanconi anemia [RCV002644544] | likely benign | X | 14844529 | 14844529 | Human | 1 | name |
| 156441101 | CV1949365 | single nucleotide variant | NM_001018113.3(FANCB):c.2439A>G (p.Arg813=) | Fanconi anemia [RCV003111151] | benign | X | 14843708 | 14843708 | Human | 1 | name |
| 156446359 | CV1951398 | single nucleotide variant | NM_001018113.3(FANCB):c.1104G>A (p.Ser368=) | Fanconi anemia [RCV003117333] | uncertain significance | X | 14859182 | 14859182 | Human | 1 | name |
| 10052972 | CV195603 | single nucleotide variant | NM_001018113.3(FANCB):c.1371C>T (p.Val457=) | Fanconi anemia [RCV001083348]|Fanconi anemia complementation group B [RCV000287960]|VACTERL association, X-linked, with or without hydrocephalus [RCV000352217]|not provided [RCV000487772] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | X | 14850630 | 14850630 | Human | 3 | name |
| 156391342 | CV2006210 | single nucleotide variant | NM_001018113.3(FANCB):c.229A>G (p.Met77Val) | Fanconi anemia [RCV002654412] | uncertain significance | X | 14865282 | 14865282 | Human | 1 | name |
| 156161832 | CV2033909 | single nucleotide variant | NM_001018113.3(FANCB):c.118A>G (p.Thr40Ala) | Fanconi anemia [RCV002741573]|Fanconi anemia complementation group B [RCV005044963] | uncertain significance | X | 14865393 | 14865393 | Human | 2 | name |
| 156239018 | CV2047249 | single nucleotide variant | NM_001018113.3(FANCB):c.2575T>C (p.Leu859=) | Fanconi anemia [RCV002805606] | likely benign | X | 14843572 | 14843572 | Human | 1 | name |
| 156224970 | CV2089324 | single nucleotide variant | NM_001018113.3(FANCB):c.153C>G (p.Asp51Glu) | Fanconi anemia [RCV002894330] | uncertain significance | X | 14865358 | 14865358 | Human | 1 | name |
| 156048823 | CV2091337 | single nucleotide variant | NM_001018113.3(FANCB):c.1521A>G (p.Ser507=) | Fanconi anemia [RCV002886089] | likely benign | X | 14845262 | 14845262 | Human | 1 | name |
| 156116533 | CV2093209 | single nucleotide variant | NM_001018113.3(FANCB):c.1620G>A (p.Leu540=) | Fanconi anemia [RCV002913991] | likely benign | X | 14845163 | 14845163 | Human | 1 | name |
| 156225906 | CV2097430 | single nucleotide variant | NM_001018113.3(FANCB):c.2404T>C (p.Leu802=) | Fanconi anemia [RCV002894366] | likely benign | X | 14843743 | 14843743 | Human | 1 | name |
| 156184609 | CV2102608 | single nucleotide variant | NM_001018113.3(FANCB):c.271C>T (p.Leu91Phe) | Fanconi anemia [RCV002917257]|Fanconi anemia complementation group B [RCV003485796] | uncertain significance | X | 14865240 | 14865240 | Human | 2 | name |
| 156364992 | CV2105862 | single nucleotide variant | NM_001018113.3(FANCB):c.1542T>C (p.His514=) | Fanconi anemia [RCV002941891] | likely benign | X | 14845241 | 14845241 | Human | 1 | name |
| 156137984 | CV2109626 | single nucleotide variant | NM_001018113.3(FANCB):c.2238T>C (p.Asn746=) | Fanconi anemia [RCV002928449] | likely benign | X | 14843909 | 14843909 | Human | 1 | name |
| 11523307 | CV245221 | single nucleotide variant | NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg) | Fanconi anemia [RCV000235722] | likely pathogenic|uncertain significance | X | 14865276 | 14865276 | Human | 1 | name |
| 401876237 | CV2750230 | deletion | NM_001018113.3(FANCB):c.972del (p.Lys324fs) | Fanconi anemia complementation group B [RCV003333679] | likely pathogenic | X | 14859314 | 14859314 | Human | 1 | name |
| 401937610 | CV2798816 | deletion | NM_001018113.3(FANCB):c.851del (p.Pro284fs) | FANCB-related disorder [RCV003416674]|Fanconi anemia [RCV003523168] | pathogenic|likely pathogenic | X | 14864660 | 14864660 | Human | 1 | name , trait , alternate_id |
| 401931064 | CV2823912 | single nucleotide variant | NM_001018113.3(FANCB):c.1701A>G (p.Glu567=) | Fanconi anemia [RCV003778450]|not provided [RCV003441030] | likely benign | X | 14845082 | 14845082 | Human | 1 | name |
| 405072829 | CV2865456 | single nucleotide variant | NM_001018113.3(FANCB):c.2562G>A (p.Gln854=) | Fanconi anemia [RCV003523906] | likely benign | X | 14843585 | 14843585 | Human | 1 | name |
| 405051412 | CV2869278 | single nucleotide variant | NM_001018113.3(FANCB):c.2328C>T (p.Ala776=) | Fanconi anemia [RCV003522171] | likely benign | X | 14843819 | 14843819 | Human | 1 | name |
| 405051486 | CV2869392 | single nucleotide variant | NM_001018113.3(FANCB):c.2370G>A (p.Val790=) | Fanconi anemia [RCV003522177] | likely benign | X | 14843777 | 14843777 | Human | 1 | name |
| 405052115 | CV2869682 | single nucleotide variant | NM_001018113.3(FANCB):c.1521A>T (p.Ser507=) | Fanconi anemia [RCV003522231] | likely benign | X | 14845262 | 14845262 | Human | 1 | name |
| 405052767 | CV2873448 | single nucleotide variant | NM_001018113.3(FANCB):c.2539T>C (p.Leu847=) | Fanconi anemia [RCV003522289] | likely benign | X | 14843608 | 14843608 | Human | 1 | name |
| 405053950 | CV2881269 | single nucleotide variant | NM_001018113.3(FANCB):c.2091G>A (p.Pro697=) | FANCB-related disorder [RCV003946698]|Fanconi anemia [RCV003522413] | likely benign | X | 14844577 | 14844577 | Human | 1 | name , trait , alternate_id |
| 405053086 | CV2884150 | single nucleotide variant | NM_001018113.3(FANCB):c.2280A>T (p.Ala760=) | Fanconi anemia [RCV003522314] | likely benign | X | 14843867 | 14843867 | Human | 1 | name |
| 404990019 | CV2886307 | single nucleotide variant | NM_001018113.3(FANCB):c.2229C>T (p.Phe743=) | Fanconi anemia [RCV003524956] | likely benign | X | 14843918 | 14843918 | Human | 1 | name |
| 404989891 | CV2889544 | single nucleotide variant | NM_001018113.3(FANCB):c.2322T>G (p.Ser774=) | Fanconi anemia [RCV003524943] | likely benign | X | 14843825 | 14843825 | Human | 1 | name |
| 405053507 | CV2891007 | single nucleotide variant | NM_001018113.3(FANCB):c.1068A>G (p.Ser356=) | Fanconi anemia [RCV003522350] | likely benign | X | 14859218 | 14859218 | Human | 1 | name |
| 404993463 | CV2895033 | single nucleotide variant | NM_001018113.3(FANCB):c.1212T>G (p.Ser404=) | Fanconi anemia [RCV003525342] | likely benign | X | 14853153 | 14853153 | Human | 1 | name |
| 405064639 | CV2899112 | single nucleotide variant | NM_001018113.3(FANCB):c.2577A>G (p.Leu859=) | Fanconi anemia [RCV003523394] | likely benign | X | 14843570 | 14843570 | Human | 1 | name |
| 405064783 | CV2899445 | single nucleotide variant | NM_001018113.3(FANCB):c.1182A>G (p.Leu394=) | Fanconi anemia [RCV003523406] | likely benign | X | 14857877 | 14857877 | Human | 1 | name |
| 405065892 | CV2899678 | single nucleotide variant | NM_001018113.3(FANCB):c.2100C>T (p.Phe700=) | Fanconi anemia [RCV003523491] | likely benign | X | 14844568 | 14844568 | Human | 1 | name |
| 405067994 | CV2902812 | single nucleotide variant | NM_001018113.3(FANCB):c.1134C>T (p.Asp378=) | Fanconi anemia [RCV003523555] | likely benign | X | 14857925 | 14857925 | Human | 1 | name |
| 405067305 | CV2906452 | single nucleotide variant | NM_001018113.3(FANCB):c.2565A>G (p.Lys855=) | Fanconi anemia [RCV003523592] | likely benign | X | 14843582 | 14843582 | Human | 1 | name |
| 405070368 | CV2907932 | single nucleotide variant | NM_001018113.3(FANCB):c.2526A>T (p.Val842=) | Fanconi anemia [RCV003523777] | likely benign | X | 14843621 | 14843621 | Human | 1 | name |
| 405070391 | CV2907959 | single nucleotide variant | NM_001018113.3(FANCB):c.1062G>A (p.Leu354=) | Fanconi anemia [RCV003523779] | likely benign | X | 14859224 | 14859224 | Human | 1 | name |
| 404987187 | CV2910287 | single nucleotide variant | NM_001018113.3(FANCB):c.1167G>T (p.Leu389=) | Fanconi anemia [RCV003524658] | likely benign | X | 14857892 | 14857892 | Human | 1 | name |
| 405078947 | CV2915701 | single nucleotide variant | NM_001018113.3(FANCB):c.1581G>T (p.Val527=) | Fanconi anemia [RCV003524393] | benign | X | 14845202 | 14845202 | Human | 1 | name |
| 405143808 | CV2945548 | single nucleotide variant | NM_001018113.3(FANCB):c.1269C>T (p.Tyr423=) | Fanconi anemia [RCV003636179] | likely benign | X | 14853096 | 14853096 | Human | 1 | name |
| 405143449 | CV2947888 | single nucleotide variant | NM_001018113.3(FANCB):c.2415A>G (p.Arg805=) | Fanconi anemia [RCV003636146] | likely benign | X | 14843732 | 14843732 | Human | 1 | name |
| 405144277 | CV2949117 | single nucleotide variant | NM_001018113.3(FANCB):c.1440T>C (p.Tyr480=) | Fanconi anemia [RCV003636195] | likely benign | X | 14850561 | 14850561 | Human | 1 | name |
| 405152004 | CV2959682 | single nucleotide variant | NM_001018113.3(FANCB):c.2214C>A (p.Leu738=) | Fanconi anemia [RCV003636902] | likely benign | X | 14843933 | 14843933 | Human | 1 | name |
| 405146066 | CV2962388 | single nucleotide variant | NM_001018113.3(FANCB):c.2520G>A (p.Leu840=) | Fanconi anemia [RCV003636380] | likely benign | X | 14843627 | 14843627 | Human | 1 | name |
| 405155072 | CV2966771 | single nucleotide variant | NM_001018113.3(FANCB):c.2301A>G (p.Leu767=) | Fanconi anemia [RCV003637138] | likely benign | X | 14843846 | 14843846 | Human | 1 | name |
| 405166655 | CV2997336 | single nucleotide variant | NM_001018113.3(FANCB):c.1497G>T (p.Leu499=) | Fanconi anemia [RCV003637828] | uncertain significance | X | 14845286 | 14845286 | Human | 1 | name |
| 405163806 | CV3004463 | single nucleotide variant | NM_001018113.3(FANCB):c.1563A>G (p.Leu521=) | Fanconi anemia [RCV003637866] | likely benign | X | 14845220 | 14845220 | Human | 1 | name |
| 405166006 | CV3007141 | single nucleotide variant | NM_001018113.3(FANCB):c.2244A>G (p.Lys748=) | Fanconi anemia [RCV003638064] | likely benign | X | 14843903 | 14843903 | Human | 1 | name |
| 405138089 | CV3030516 | single nucleotide variant | NM_001018113.3(FANCB):c.1725A>G (p.Val575=) | Fanconi anemia [RCV003635551] | likely benign | X | 14845058 | 14845058 | Human | 1 | name |
| 405140029 | CV3036889 | single nucleotide variant | NM_001018113.3(FANCB):c.1569T>C (p.Cys523=) | Fanconi anemia [RCV003635742] | likely benign | X | 14845214 | 14845214 | Human | 1 | name |
| 405146856 | CV3045067 | single nucleotide variant | NM_001018113.3(FANCB):c.2361G>A (p.Arg787=) | Fanconi anemia [RCV003636449] | likely benign | X | 14843786 | 14843786 | Human | 1 | name |
| 405149669 | CV3058804 | single nucleotide variant | NM_001018113.3(FANCB):c.2299C>T (p.Leu767=) | Fanconi anemia [RCV003636705] | likely benign | X | 14843848 | 14843848 | Human | 1 | name |
| 405150018 | CV3058949 | single nucleotide variant | NM_001018113.3(FANCB):c.1872A>C (p.Leu624=) | Fanconi anemia [RCV003636734] | likely benign | X | 14844911 | 14844911 | Human | 1 | name |
| 405150078 | CV3059178 | single nucleotide variant | NM_001018113.3(FANCB):c.1110A>G (p.Glu370=) | Fanconi anemia [RCV003636740] | likely benign | X | 14857949 | 14857949 | Human | 1 | name |
| 405150441 | CV3059662 | single nucleotide variant | NM_001018113.3(FANCB):c.2340T>C (p.His780=) | Fanconi anemia [RCV003636773] | likely benign | X | 14843807 | 14843807 | Human | 1 | name |
| 405148713 | CV3064044 | single nucleotide variant | NM_001018113.3(FANCB):c.2359A>C (p.Arg787=) | Fanconi anemia [RCV003636618] | likely benign | X | 14843788 | 14843788 | Human | 1 | name |
| 405151059 | CV3066610 | single nucleotide variant | NM_001018113.3(FANCB):c.1896C>T (p.Tyr632=) | Fanconi anemia [RCV003636826] | likely benign | X | 14844887 | 14844887 | Human | 1 | name |
| 405147818 | CV3066672 | single nucleotide variant | NM_001018113.3(FANCB):c.2556T>C (p.Ala852=) | Fanconi anemia [RCV003636538] | likely benign | X | 14843591 | 14843591 | Human | 1 | name |
| 405160661 | CV3072388 | single nucleotide variant | NM_001018113.3(FANCB):c.1251A>G (p.Lys417=) | Fanconi anemia [RCV003637592] | likely benign | X | 14853114 | 14853114 | Human | 1 | name |
| 405159240 | CV3074428 | single nucleotide variant | NM_001018113.3(FANCB):c.1788T>C (p.Thr596=) | Fanconi anemia [RCV003637479] | likely benign | X | 14844995 | 14844995 | Human | 1 | name |
| 405160006 | CV3074594 | single nucleotide variant | NM_001018113.3(FANCB):c.1818T>C (p.Ser606=) | Fanconi anemia [RCV003637538] | likely benign | X | 14844965 | 14844965 | Human | 1 | name |
| 405151494 | CV3078882 | single nucleotide variant | NM_001018113.3(FANCB):c.2136A>G (p.Pro712=) | Fanconi anemia [RCV003636862] | likely benign | X | 14844532 | 14844532 | Human | 1 | name |
| 405211437 | CV3117772 | single nucleotide variant | NM_001018113.3(FANCB):c.1614A>G (p.Pro538=) | Fanconi anemia [RCV003823371] | benign | X | 14845169 | 14845169 | Human | 1 | name |
| 405123869 | CV3126414 | single nucleotide variant | NM_001018113.3(FANCB):c.1887T>G (p.Thr629=) | Fanconi anemia [RCV003815166] | likely benign | X | 14844896 | 14844896 | Human | 1 | name |
| 405117150 | CV3134383 | single nucleotide variant | NM_001018113.3(FANCB):c.1617C>T (p.Tyr539=) | Fanconi anemia [RCV003836985] | likely benign | X | 14845166 | 14845166 | Human | 1 | name |
| 405018295 | CV3135266 | single nucleotide variant | NM_001018113.3(FANCB):c.1080G>A (p.Thr360=) | Fanconi anemia [RCV003829537] | likely benign | X | 14859206 | 14859206 | Human | 1 | name |
| 405125022 | CV3136368 | single nucleotide variant | NM_001018113.3(FANCB):c.2112C>T (p.Leu704=) | Fanconi anemia [RCV003837698] | likely benign | X | 14844556 | 14844556 | Human | 1 | name |
| 405108482 | CV3136615 | single nucleotide variant | NM_001018113.3(FANCB):c.2190C>T (p.Cys730=) | Fanconi anemia [RCV003835769] | likely benign | X | 14843957 | 14843957 | Human | 1 | name |
| 405145706 | CV3141738 | single nucleotide variant | NM_001018113.3(FANCB):c.2271T>C (p.Asp757=) | Fanconi anemia [RCV003839660] | likely benign | X | 14843876 | 14843876 | Human | 1 | name |
| 405230865 | CV3157290 | single nucleotide variant | NM_001018113.3(FANCB):c.1950A>G (p.Ala650=) | Fanconi anemia [RCV003865240] | likely benign | X | 14844718 | 14844718 | Human | 1 | name |
| 402470185 | CV3171085 | single nucleotide variant | NM_001018113.3(FANCB):c.2214C>G (p.Leu738=) | Fanconi anemia [RCV003874048] | likely benign | X | 14843933 | 14843933 | Human | 1 | name |
| 405254713 | CV3175496 | single nucleotide variant | NM_001018113.3(FANCB):c.2406A>G (p.Leu802=) | Fanconi anemia [RCV003871763] | likely benign | X | 14843741 | 14843741 | Human | 1 | name |
| 405693240 | CV3226754 | single nucleotide variant | NM_001410764.1(FANCB):c.2616C>T (p.Cys872=) | not provided [RCV003993147] | likely benign | X | 14796910 | 14796910 | Human | | name |
| 405693249 | CV3226768 | single nucleotide variant | NM_001410764.1(FANCB):c.2692T>C (p.Leu898=) | not provided [RCV003993161] | likely benign | X | 14796834 | 14796834 | Human | | name |
| 407492268 | CV3432021 | single nucleotide variant | NM_001018113.3(FANCB):c.190T>C (p.Phe64Leu) | Inborn genetic diseases [RCV004620719] | uncertain significance | X | 14865321 | 14865321 | Human | 1 | name |
| 597717241 | CV3729628 | single nucleotide variant | NM_001018113.3(FANCB):c.218A>G (p.His73Arg) | Fanconi anemia complementation group B [RCV005049301] | uncertain significance | X | 14865293 | 14865293 | Human | 1 | name |
| 597968216 | CV3752217 | single nucleotide variant | NM_001018113.3(FANCB):c.2130A>G (p.Arg710=) | Fanconi anemia [RCV005083411] | likely benign | X | 14844538 | 14844538 | Human | 1 | name |
| 597970090 | CV3791827 | single nucleotide variant | NM_001018113.3(FANCB):c.1857A>G (p.Arg619=) | Fanconi anemia [RCV005141644] | likely benign | X | 14844926 | 14844926 | Human | 1 | name |
| 597907687 | CV3804226 | single nucleotide variant | NM_001018113.3(FANCB):c.1455T>C (p.Asp485=) | Fanconi anemia [RCV005153772] | likely benign | X | 14850546 | 14850546 | Human | 1 | name |
| 597856912 | CV3822186 | single nucleotide variant | NM_001018113.3(FANCB):c.143T>C (p.Met48Thr) | Fanconi anemia [RCV005174484] | uncertain significance | X | 14865368 | 14865368 | Human | 1 | name |
| 597878654 | CV3825957 | single nucleotide variant | NM_001018113.3(FANCB):c.167T>C (p.Val56Ala) | Fanconi anemia [RCV005177831] | uncertain significance | X | 14865344 | 14865344 | Human | 1 | name |
| 597868961 | CV3835092 | single nucleotide variant | NM_001018113.3(FANCB):c.2064T>C (p.Phe688=) | Fanconi anemia [RCV005176268] | likely benign | X | 14844604 | 14844604 | Human | 1 | name |
| 597888968 | CV3839524 | single nucleotide variant | NM_001018113.3(FANCB):c.1842T>C (p.Tyr614=) | Fanconi anemia [RCV005179416] | likely benign | X | 14844941 | 14844941 | Human | 1 | name |
| 597859628 | CV3850357 | single nucleotide variant | NM_001018113.3(FANCB):c.1479T>C (p.Thr493=) | Fanconi anemia [RCV005195690] | likely benign | X | 14850522 | 14850522 | Human | 1 | name |
| 616940049 | CV4014225 | single nucleotide variant | NM_001018113.3(FANCB):c.1416A>G (p.Glu472=) | not provided [RCV005413718] | likely benign | X | 14850585 | 14850585 | Human | | name |
| 13215284 | CV430668 | single nucleotide variant | NM_001018113.3(FANCB):c.2109A>G (p.Thr703=) | Fanconi anemia [RCV003635919]|not specified [RCV000502323] | likely benign | X | 14844559 | 14844559 | Human | 1 | name |
| 13215180 | CV430669 | single nucleotide variant | NM_001018113.3(FANCB):c.1317T>C (p.Ser439=) | not specified [RCV000502170] | likely benign | X | 14853048 | 14853048 | Human | | name |
| 13214446 | CV430672 | single nucleotide variant | NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile) | FANCB-related disorder [RCV004748791]|Fanconi anemia [RCV001516277]|not provided [RCV003237883]|not specified [RCV000501276] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | X | 14865384 | 14865384 | Human | 1 | name , trait , alternate_id |
| 13498348 | CV471328 | single nucleotide variant | NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) | Fanconi anemia [RCV000528416]|Fanconi anemia complementation group B [RCV000766077] | likely benign|uncertain significance | X | 14865312 | 14865312 | Human | 2 | name |
| 13466195 | CV471761 | single nucleotide variant | NM_001018113.3(FANCB):c.1659G>A (p.Thr553=) | Fanconi anemia [RCV000550142] | likely benign | X | 14845124 | 14845124 | Human | 1 | name |
| 13613159 | CV534593 | single nucleotide variant | NM_001018113.3(FANCB):c.2394C>T (p.Val798=) | Fanconi anemia [RCV000631006]|not specified [RCV001821783] | benign|likely benign | X | 14843753 | 14843753 | Human | 1 | name |
| 13613311 | CV534611 | single nucleotide variant | NM_001018113.3(FANCB):c.262G>A (p.Gly88Arg) | Fanconi anemia [RCV000631018]|not specified [RCV001821784] | benign|likely benign | X | 14865249 | 14865249 | Human | 1 | name |
| 13613094 | CV534637 | single nucleotide variant | NM_001018113.3(FANCB):c.1707A>G (p.Pro569=) | Fanconi anemia [RCV000630973] | likely benign | X | 14845076 | 14845076 | Human | 1 | name |
| 14975344 | CV678997 | duplication | NM_001018113.3(FANCB):c.829dup (p.Cys277fs) | Fanconi anemia complementation group B [RCV000851555] | pathogenic | X | 14864681 | 14864682 | Human | 1 | name |
| 14975341 | CV679000 | single nucleotide variant | NM_001018113.3(FANCB):c.128T>C (p.Leu43Ser) | Fanconi anemia complementation group B [RCV000851552] | pathogenic | X | 14865383 | 14865383 | Human | 1 | name |
| 15125083 | CV684958 | single nucleotide variant | NM_001018113.3(FANCB):c.1995C>T (p.Pro665=) | FANCB-related disorder [RCV003955588]|Fanconi anemia [RCV000862524]|Fanconi anemia complementation group B [RCV002501213] | benign|likely benign | X | 14844673 | 14844673 | Human | 3 | name , trait , alternate_id |
| 15153466 | CV689358 | single nucleotide variant | NM_001018113.3(FANCB):c.2379A>G (p.Gly793=) | Fanconi anemia [RCV000867649] | likely benign | X | 14843768 | 14843768 | Human | 1 | name |
| 15153633 | CV689359 | single nucleotide variant | NM_001018113.3(FANCB):c.1899A>G (p.Leu633=) | Fanconi anemia [RCV002064559] | likely benign | X | 14844884 | 14844884 | Human | 1 | name |
| 15110752 | CV694796 | single nucleotide variant | NM_001018113.3(FANCB):c.2301A>C (p.Leu767=) | Fanconi anemia [RCV001456347] | likely benign | X | 14843846 | 14843846 | Human | 1 | name |
| 15141473 | CV694797 | single nucleotide variant | NM_001018113.3(FANCB):c.1638A>T (p.Gly546=) | Fanconi anemia [RCV000877681] | benign | X | 14845145 | 14845145 | Human | 1 | name |
| 15132358 | CV694799 | single nucleotide variant | NM_001018113.3(FANCB):c.1077A>T (p.Ile359=) | Fanconi anemia [RCV002064839] | likely benign | X | 14859209 | 14859209 | Human | 1 | name |
| 15198384 | CV729442 | single nucleotide variant | NM_001018113.3(FANCB):c.1755A>G (p.Ser585=) | Fanconi anemia [RCV001402812] | likely benign | X | 14845028 | 14845028 | Human | 1 | name |
| 15109387 | CV758315 | single nucleotide variant | NM_001018113.3(FANCB):c.1677G>A (p.Lys559=) | not provided [RCV000916325] | likely benign | X | 14845106 | 14845106 | Human | | name |
| 15129803 | CV773821 | single nucleotide variant | NM_001018113.3(FANCB):c.1257T>C (p.Ile419=) | Fanconi anemia [RCV001493553] | likely benign | X | 14853108 | 14853108 | Human | 1 | name |
| 28881834 | CV902836 | single nucleotide variant | NM_001018113.3(FANCB):c.2373C>T (p.Ser791=) | Fanconi anemia [RCV003769816]|Fanconi anemia complementation group B [RCV001167741]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167742] | likely benign|uncertain significance | X | 14843774 | 14843774 | Human | 3 | name |
| 28875121 | CV902837 | single nucleotide variant | NM_001018113.3(FANCB):c.1929G>A (p.Glu643=) | Fanconi anemia complementation group B [RCV001169621]|VACTERL association, X-linked, with or without hydrocephalus [RCV001165640] | uncertain significance | X | 14844739 | 14844739 | Human | 2 | name |
| 28882113 | CV902839 | single nucleotide variant | NM_001018113.3(FANCB):c.1179T>C (p.Pro393=) | Fanconi anemia [RCV001409859]|Fanconi anemia complementation group B [RCV001167814]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167813] | likely benign|uncertain significance | X | 14857880 | 14857880 | Human | 3 | name |
| 28880304 | CV902842 | single nucleotide variant | NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro) | Fanconi anemia [RCV001313286]|Fanconi anemia complementation group B [RCV001167290]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167291]|not provided [RCV004546609] | likely benign|uncertain significance | X | 14865315 | 14865315 | Human | 3 | name |
| 38471419 | CV939460 | single nucleotide variant | NM_001018113.3(FANCB):c.256A>G (p.Arg86Gly) | Fanconi anemia [RCV001213772] | likely benign|uncertain significance | X | 14865255 | 14865255 | Human | 1 | name |
| 38491147 | CV959175 | single nucleotide variant | NM_001018113.3(FANCB):c.131A>C (p.His44Pro) | Fanconi anemia [RCV001239271] | uncertain significance | X | 14865380 | 14865380 | Human | 1 | name |
| 126747562 | CV999629 | single nucleotide variant | NM_001018113.3(FANCB):c.1407A>G (p.Gln469=) | Fanconi anemia [RCV001306266] | likely benign|uncertain significance | X | 14850594 | 14850594 | Human | 1 | name |
| 126737571 | CV1035378 | single nucleotide variant | NM_001018113.3(FANCB):c.679T>C (p.Tyr227His) | FANCB-related disorder [RCV003405585]|Fanconi anemia [RCV001350370] | uncertain significance | X | 14864832 | 14864832 | Human | 1 | name , trait , alternate_id |
| 126761462 | CV1035379 | single nucleotide variant | NM_001018113.3(FANCB):c.677T>C (p.Ile226Thr) | Fanconi anemia [RCV001340696] | uncertain significance | X | 14864834 | 14864834 | Human | 1 | name |
| 126771958 | CV1035380 | single nucleotide variant | NM_001018113.3(FANCB):c.341G>A (p.Ser114Asn) | Fanconi anemia [RCV001345341] | uncertain significance | X | 14865170 | 14865170 | Human | 1 | name |
| 126921064 | CV1052298 | single nucleotide variant | NM_001018113.3(FANCB):c.361C>T (p.Arg121Cys) | Fanconi anemia [RCV001374175] | uncertain significance | X | 14865150 | 14865150 | Human | 1 | name |
| 151356401 | CV1329165 | single nucleotide variant | NM_001018113.3(FANCB):c.392A>G (p.Lys131Arg) | not specified [RCV001822754] | uncertain significance | X | 14865119 | 14865119 | Human | | name |
| 151891630 | CV1347139 | single nucleotide variant | NM_001018113.3(FANCB):c.814A>G (p.Thr272Ala) | Fanconi anemia [RCV002039186] | uncertain significance | X | 14864697 | 14864697 | Human | 1 | name |
| 151750405 | CV1359075 | single nucleotide variant | NM_001018113.3(FANCB):c.306T>A (p.Asn102Lys) | Fanconi anemia [RCV001969133]|Fanconi anemia complementation group B [RCV002484852] | uncertain significance | X | 14865205 | 14865205 | Human | 2 | name |
| 151816805 | CV1385539 | single nucleotide variant | NM_001018113.3(FANCB):c.634T>C (p.Phe212Leu) | Fanconi anemia [RCV002012985] | uncertain significance | X | 14864877 | 14864877 | Human | 1 | name |
| 151738747 | CV1390077 | single nucleotide variant | NM_001018113.3(FANCB):c.521G>A (p.Gly174Glu) | Fanconi anemia [RCV001893056] | uncertain significance | X | 14864990 | 14864990 | Human | 1 | name |
| 151720085 | CV1396525 | single nucleotide variant | NM_001018113.3(FANCB):c.569G>A (p.Cys190Tyr) | Fanconi anemia [RCV001890956] | uncertain significance | X | 14864942 | 14864942 | Human | 1 | name |
| 151892828 | CV1399105 | single nucleotide variant | NM_001018113.3(FANCB):c.454T>C (p.Phe152Leu) | Fanconi anemia [RCV001944521] | uncertain significance | X | 14865057 | 14865057 | Human | 1 | name |
| 151827537 | CV1400573 | single nucleotide variant | NM_001018113.3(FANCB):c.664G>A (p.Val222Ile) | Fanconi anemia [RCV001976320] | uncertain significance | X | 14864847 | 14864847 | Human | 1 | name |
| 151772393 | CV1400916 | single nucleotide variant | NM_001018113.3(FANCB):c.628A>G (p.Thr210Ala) | Fanconi anemia [RCV002045372] | uncertain significance | X | 14864883 | 14864883 | Human | 1 | name |
| 151805546 | CV1403526 | single nucleotide variant | NM_001018113.3(FANCB):c.526A>T (p.Ile176Phe) | Fanconi anemia [RCV002011954] | uncertain significance | X | 14864985 | 14864985 | Human | 1 | name |
| 151751465 | CV1412155 | single nucleotide variant | NM_001018113.3(FANCB):c.781C>T (p.Arg261Ter) | Fanconi anemia [RCV001927558]|Fanconi anemia complementation group B [RCV004555628] | pathogenic|likely pathogenic | X | 14864730 | 14864730 | Human | 2 | name |
| 151794117 | CV1420531 | single nucleotide variant | NM_001018113.3(FANCB):c.662A>G (p.Glu221Gly) | Fanconi anemia [RCV002027493] | uncertain significance | X | 14864849 | 14864849 | Human | 1 | name |
| 151768539 | CV1450815 | single nucleotide variant | NM_001018113.3(FANCB):c.834G>C (p.Gln278His) | Fanconi anemia [RCV001929293] | uncertain significance | X | 14864677 | 14864677 | Human | 1 | name |
| 151769671 | CV1451022 | single nucleotide variant | NM_001018113.3(FANCB):c.493G>C (p.Gly165Arg) | Fanconi anemia [RCV001929393]|Fanconi anemia complementation group B [RCV004785393] | likely benign|uncertain significance | X | 14865018 | 14865018 | Human | 2 | name |
| 151774732 | CV1455687 | single nucleotide variant | NM_001018113.3(FANCB):c.972A>T (p.Lys324Asn) | Fanconi anemia [RCV002045580] | uncertain significance | X | 14859314 | 14859314 | Human | 1 | name |
| 151836555 | CV1469626 | single nucleotide variant | NM_001018113.3(FANCB):c.959C>A (p.Ala320Asp) | Fanconi anemia [RCV001880850] | uncertain significance | X | 14859327 | 14859327 | Human | 1 | name |
| 151801420 | CV1475226 | single nucleotide variant | NM_001018113.3(FANCB):c.484A>C (p.Ser162Arg) | Fanconi anemia [RCV001952965] | uncertain significance | X | 14865027 | 14865027 | Human | 1 | name |
| 151720425 | CV1496762 | single nucleotide variant | NM_001018113.3(FANCB):c.722A>G (p.His241Arg) | Fanconi anemia [RCV001909638] | uncertain significance | X | 14864789 | 14864789 | Human | 1 | name |
| 151852825 | CV1501997 | single nucleotide variant | NM_001018113.3(FANCB):c.910A>G (p.Ile304Val) | Fanconi anemia [RCV001937584]|Fanconi anemia complementation group B [RCV005005316] | uncertain significance | X | 14864601 | 14864601 | Human | 2 | name |
| 152081696 | CV1548313 | single nucleotide variant | NM_001018113.3(FANCB):c.414T>A (p.Asn138Lys) | FANCB-related disorder [RCV003895870]|Fanconi anemia [RCV002076453] | likely benign | X | 14865097 | 14865097 | Human | 1 | name , trait , alternate_id |
| 156261306 | CV1872439 | single nucleotide variant | NM_001018113.3(FANCB):c.554G>T (p.Gly185Val) | Fanconi anemia [RCV003060369] | uncertain significance | X | 14864957 | 14864957 | Human | 1 | name |
| 155944204 | CV1878998 | single nucleotide variant | NM_001018113.3(FANCB):c.445G>A (p.Ala149Thr) | Fanconi anemia [RCV003073742] | uncertain significance | X | 14865066 | 14865066 | Human | 1 | name |
| 156406623 | CV1891226 | single nucleotide variant | NM_001018113.3(FANCB):c.506C>T (p.Ser169Phe) | Fanconi anemia [RCV003070433] | uncertain significance | X | 14865005 | 14865005 | Human | 1 | name |
| 156413756 | CV1905445 | single nucleotide variant | NM_001018113.3(FANCB):c.439G>A (p.Val147Ile) | Fanconi anemia [RCV003073431] | uncertain significance | X | 14865072 | 14865072 | Human | 1 | name |
| 156134449 | CV1914502 | single nucleotide variant | NM_001018113.3(FANCB):c.659A>G (p.Gln220Arg) | Fanconi anemia [RCV002623435] | uncertain significance | X | 14864852 | 14864852 | Human | 1 | name |
| 156392741 | CV1924580 | single nucleotide variant | NM_001018113.3(FANCB):c.331A>G (p.Ile111Val) | Fanconi anemia [RCV002654539] | uncertain significance | X | 14865180 | 14865180 | Human | 1 | name |
| 156449944 | CV1938454 | single nucleotide variant | NM_001018113.3(FANCB):c.647C>G (p.Ser216Cys) | Fanconi anemia [RCV003122076] | uncertain significance | X | 14864864 | 14864864 | Human | 1 | name |
| 10052109 | CV194336 | single nucleotide variant | NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr) | FANCB-related disorder [RCV003967429]|Fanconi anemia [RCV001085637]|not provided [RCV000178139]|not specified [RCV001818433] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | X | 14859297 | 14859297 | Human | 1 | name , trait , alternate_id |
| 156324570 | CV2101327 | single nucleotide variant | NM_001018113.3(FANCB):c.781C>G (p.Arg261Gly) | Fanconi anemia [RCV002899538]|not provided [RCV004779373] | uncertain significance | X | 14864730 | 14864730 | Human | 1 | name |
| 156247327 | CV2106344 | single nucleotide variant | NM_001018113.3(FANCB):c.560A>G (p.Lys187Arg) | Fanconi anemia [RCV002933419] | likely benign | X | 14864951 | 14864951 | Human | 1 | name |
| 155946087 | CV2111694 | single nucleotide variant | NM_001018113.3(FANCB):c.977G>C (p.Ser326Thr) | Fanconi anemia [RCV002904772]|not provided [RCV003435838] | uncertain significance | X | 14859309 | 14859309 | Human | 1 | name |
| 156137268 | CV2113406 | single nucleotide variant | NM_001018113.3(FANCB):c.494G>A (p.Gly165Asp) | Fanconi anemia [RCV002928423]|Fanconi anemia complementation group B [RCV005045078] | uncertain significance | X | 14865017 | 14865017 | Human | 2 | name |
| 156094453 | CV2139458 | single nucleotide variant | NM_001018113.3(FANCB):c.469A>G (p.Thr157Ala) | Fanconi anemia [RCV002979737] | uncertain significance | X | 14865042 | 14865042 | Human | 1 | name |
| 156047265 | CV2216141 | single nucleotide variant | NM_001018113.3(FANCB):c.537A>C (p.Leu179Phe) | Inborn genetic diseases [RCV002692634] | uncertain significance | X | 14864974 | 14864974 | Human | 1 | name |
| 11523535 | CV245224 | single nucleotide variant | NM_001018113.3(FANCB):c.388A>G (p.Met130Val) | Fanconi anemia [RCV000236040]|Inborn genetic diseases [RCV004619232] | likely benign|uncertain significance | X | 14865123 | 14865123 | Human | 2 | name |
| 329952292 | CV2671639 | single nucleotide variant | NM_001018113.3(FANCB):c.647C>T (p.Ser216Phe) | not provided [RCV003237035] | uncertain significance | X | 14864864 | 14864864 | Human | | name |
| 401737476 | CV2695812 | single nucleotide variant | NM_001018113.3(FANCB):c.473G>A (p.Gly158Asp) | Inborn genetic diseases [RCV003250290] | uncertain significance | X | 14865038 | 14865038 | Human | 1 | name |
| 401882254 | CV2793423 | single nucleotide variant | NM_001018113.3(FANCB):c.912A>G (p.Ile304Met) | FANCB-related disorder [RCV004750374]|Fanconi anemia [RCV005104189]|Inborn genetic diseases [RCV003385646] | likely benign|uncertain significance | X | 14864599 | 14864599 | Human | 2 | name , trait , alternate_id |
| 401911938 | CV2795945 | single nucleotide variant | NM_001018113.3(FANCB):c.304A>G (p.Asn102Asp) | FANCB-related disorder [RCV003399681]|Fanconi anemia [RCV005104299]|Inborn genetic diseases [RCV004362783] | uncertain significance | X | 14865207 | 14865207 | Human | 2 | name , trait , alternate_id |
| 401937782 | CV2797032 | single nucleotide variant | NM_001018113.3(FANCB):c.419C>T (p.Pro140Leu) | FANCB-related disorder [RCV003416877]|Fanconi anemia [RCV003636015] | uncertain significance | X | 14865092 | 14865092 | Human | 1 | name , trait , alternate_id |
| 401902738 | CV2799453 | single nucleotide variant | NM_001018113.3(FANCB):c.952G>A (p.Val318Ile) | FANCB-related disorder [RCV003418970] | uncertain significance | X | 14859334 | 14859334 | Human | | name , trait , alternate_id |
| 401931065 | CV2823913 | single nucleotide variant | NM_001018113.3(FANCB):c.850C>G (p.Pro284Ala) | not provided [RCV003441031] | uncertain significance | X | 14864661 | 14864661 | Human | | name |
| 405063412 | CV2857556 | single nucleotide variant | NM_001018113.3(FANCB):c.951G>T (p.Gln317His) | Fanconi anemia [RCV003523292] | uncertain significance | X | 14864560 | 14864560 | Human | 1 | name |
| 405051509 | CV2869417 | single nucleotide variant | NM_001018113.3(FANCB):c.773C>T (p.Ala258Val) | Fanconi anemia [RCV003522179] | uncertain significance | X | 14864738 | 14864738 | Human | 1 | name |
| 405053139 | CV2884331 | single nucleotide variant | NM_001018113.3(FANCB):c.611A>C (p.Asp204Ala) | Fanconi anemia [RCV003522319] | uncertain significance | X | 14864900 | 14864900 | Human | 1 | name |
| 405079837 | CV2909291 | single nucleotide variant | NM_001018113.3(FANCB):c.970A>C (p.Lys324Gln) | Fanconi anemia [RCV003524478] | likely benign | X | 14859316 | 14859316 | Human | 1 | name |
| 404987866 | CV2910887 | single nucleotide variant | NM_001018113.3(FANCB):c.299A>G (p.Lys100Arg) | Fanconi anemia [RCV003524731] | uncertain significance | X | 14865212 | 14865212 | Human | 1 | name |
| 404987104 | CV2914234 | single nucleotide variant | NM_001018113.3(FANCB):c.434G>C (p.Arg145Thr) | Fanconi anemia [RCV003524573] | uncertain significance | X | 14865077 | 14865077 | Human | 1 | name |
| 405146053 | CV2962351 | single nucleotide variant | NM_001018113.3(FANCB):c.360G>A (p.Met120Ile) | Fanconi anemia [RCV003636379] | uncertain significance | X | 14865151 | 14865151 | Human | 1 | name |
| 405137155 | CV3021583 | single nucleotide variant | NM_001018113.3(FANCB):c.610G>T (p.Asp204Tyr) | Fanconi anemia [RCV003635413] | uncertain significance | X | 14864901 | 14864901 | Human | 1 | name |
| 405139709 | CV3036332 | single nucleotide variant | NM_001018113.3(FANCB):c.463T>C (p.Ser155Pro) | Fanconi anemia [RCV003635711] | uncertain significance | X | 14865048 | 14865048 | Human | 1 | name |
| 405146645 | CV3051654 | single nucleotide variant | NM_001018113.3(FANCB):c.490T>C (p.Ser164Pro) | Fanconi anemia [RCV003636432] | uncertain significance | X | 14865021 | 14865021 | Human | 1 | name |
| 405149194 | CV3061402 | single nucleotide variant | NM_001018113.3(FANCB):c.898G>A (p.Val300Ile) | Fanconi anemia [RCV003636663]|Inborn genetic diseases [RCV004374183] | benign|likely benign | X | 14864613 | 14864613 | Human | 2 | name |
| 405149851 | CV3065251 | single nucleotide variant | NM_001018113.3(FANCB):c.388A>T (p.Met130Leu) | Fanconi anemia [RCV003636722] | uncertain significance | X | 14865123 | 14865123 | Human | 1 | name |
| 405149001 | CV3068374 | single nucleotide variant | NM_001018113.3(FANCB):c.461C>A (p.Ser154Tyr) | Fanconi anemia [RCV003636644] | uncertain significance | X | 14865050 | 14865050 | Human | 1 | name |
| 11620013 | CV338995 | single nucleotide variant | NM_001018113.3(FANCB):c.869T>C (p.Met290Thr) | FANCB-related disorder [RCV003970085]|Fanconi Anemia, X-Linked [RCV000386373]|Fanconi anemia [RCV000475401]|VACTERL with hydrocephalus [RCV000331728] | benign|likely benign | X | 14864642 | 14864642 | Human | 2 | name , trait , alternate_id |
| 11621000 | CV338998 | single nucleotide variant | NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp) | Fanconi anemia complementation group B [RCV000343511]|VACTERL association, X-linked, with or without hydrocephalus [RCV000396765] | uncertain significance | X | 14865154 | 14865154 | Human | 2 | name |
| 11628502 | CV352104 | single nucleotide variant | NM_001018113.3(FANCB):c.350A>C (p.Lys117Thr) | Fanconi Anemia, X-Linked [RCV000303794]|Fanconi anemia [RCV001206366]|VACTERL with hydrocephalus [RCV000339897] | uncertain significance | X | 14865161 | 14865161 | Human | 2 | name |
| 11627136 | CV352784 | single nucleotide variant | NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr) | Fanconi anemia complementation group B [RCV000276678]|VACTERL association, X-linked, with or without hydrocephalus [RCV000389792] | uncertain significance | X | 14864597 | 14864597 | Human | 2 | name |
| 11627467 | CV352785 | single nucleotide variant | NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln) | Fanconi anemia complementation group B [RCV000282653]|VACTERL association, X-linked, with or without hydrocephalus [RCV000337705] | uncertain significance | X | 14864729 | 14864729 | Human | 2 | name |
| 597628635 | CV3675688 | single nucleotide variant | NM_001018113.3(FANCB):c.508A>C (p.Ile170Leu) | Fanconi anemia complementation group B [RCV005051507]|Inborn genetic diseases [RCV004977622] | uncertain significance | X | 14865003 | 14865003 | Human | 2 | name |
| 597656448 | CV3729620 | single nucleotide variant | NM_001018113.3(FANCB):c.986T>A (p.Leu329Gln) | Fanconi anemia complementation group B [RCV005041665] | uncertain significance | X | 14859300 | 14859300 | Human | 1 | name |
| 597656993 | CV3729621 | single nucleotide variant | NM_001018113.3(FANCB):c.974T>C (p.Leu325Pro) | Fanconi anemia complementation group B [RCV005041666] | uncertain significance | X | 14859312 | 14859312 | Human | 1 | name |
| 597656979 | CV3729623 | single nucleotide variant | NM_001018113.3(FANCB):c.625A>G (p.Asn209Asp) | Fanconi anemia complementation group B [RCV005041668] | uncertain significance | X | 14864886 | 14864886 | Human | 1 | name |
| 597656970 | CV3729624 | single nucleotide variant | NM_001018113.3(FANCB):c.595G>A (p.Glu199Lys) | Fanconi anemia complementation group B [RCV005041669] | uncertain significance | X | 14864916 | 14864916 | Human | 1 | name |
| 597656962 | CV3729625 | single nucleotide variant | NM_001018113.3(FANCB):c.592C>G (p.Gln198Glu) | Fanconi anemia complementation group B [RCV005041670] | uncertain significance | X | 14864919 | 14864919 | Human | 1 | name |
| 597656953 | CV3729626 | single nucleotide variant | NM_001018113.3(FANCB):c.552G>T (p.Leu184Phe) | Fanconi anemia complementation group B [RCV005041671] | uncertain significance | X | 14864959 | 14864959 | Human | 1 | name |
| 597656946 | CV3729627 | single nucleotide variant | NM_001018113.3(FANCB):c.422T>C (p.Leu141Ser) | Fanconi anemia complementation group B [RCV005041672] | uncertain significance | X | 14865089 | 14865089 | Human | 1 | name |
| 597971473 | CV3750738 | single nucleotide variant | NM_001018113.3(FANCB):c.632A>G (p.Lys211Arg) | Fanconi anemia [RCV005084482] | uncertain significance | X | 14864879 | 14864879 | Human | 1 | name |
| 597973125 | CV3790951 | single nucleotide variant | NM_001018113.3(FANCB):c.815C>T (p.Thr272Ile) | Fanconi anemia [RCV005143166] | uncertain significance | X | 14864696 | 14864696 | Human | 1 | name |
| 597865505 | CV3792653 | single nucleotide variant | NM_001018113.3(FANCB):c.455T>C (p.Phe152Ser) | Fanconi anemia [RCV005147460] | uncertain significance | X | 14865056 | 14865056 | Human | 1 | name |
| 597850509 | CV3803248 | single nucleotide variant | NM_001018113.3(FANCB):c.581A>G (p.Glu194Gly) | Fanconi anemia [RCV005145365] | uncertain significance | X | 14864930 | 14864930 | Human | 1 | name |
| 597962095 | CV3809077 | single nucleotide variant | NM_001018113.3(FANCB):c.337C>T (p.His113Tyr) | Fanconi anemia [RCV005163979] | uncertain significance | X | 14865174 | 14865174 | Human | 1 | name |
| 12884535 | CV404149 | single nucleotide variant | NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln) | Fanconi anemia [RCV000463625]|Fanconi anemia complementation group B [RCV002480393] | uncertain significance | X | 14864859 | 14864859 | Human | 2 | name |
| 12889124 | CV404501 | single nucleotide variant | NM_001018113.3(FANCB):c.510T>G (p.Ile170Met) | Fanconi anemia [RCV000472221]|Inborn genetic diseases [RCV003258818]|not specified [RCV001821264] | likely benign|uncertain significance | X | 14865001 | 14865001 | Human | 2 | name |
| 13214404 | CV430671 | single nucleotide variant | NM_001018113.3(FANCB):c.706G>A (p.Val236Met) | Fanconi anemia [RCV001513609]|Fanconi anemia complementation group B [RCV002496947]|Fanconi anemia complementation group B [RCV005235364]|not specified [RCV000501227] | benign|likely benign | X | 14864805 | 14864805 | Human | 2 | name |
| 13465037 | CV471768 | single nucleotide variant | NM_001018113.3(FANCB):c.884G>A (p.Gly295Glu) | Fanconi anemia [RCV000545120] | likely benign|uncertain significance | X | 14864627 | 14864627 | Human | 1 | name |
| 13465491 | CV471770 | single nucleotide variant | NM_001018113.3(FANCB):c.716A>T (p.Tyr239Phe) | Fanconi anemia [RCV000547293] | uncertain significance | X | 14864795 | 14864795 | Human | 1 | name |
| 13612802 | CV534639 | single nucleotide variant | NM_001018113.3(FANCB):c.587G>A (p.Cys196Tyr) | Fanconi anemia [RCV000630871] | uncertain significance | X | 14864924 | 14864924 | Human | 1 | name |
| 13799154 | CV553573 | deletion | NM_001018113.3(FANCB):c.1668del (p.Asp557fs) | Fanconi anemia complementation group B [RCV000851562]|not provided [RCV000681853] | pathogenic | X | 14845115 | 14845115 | Human | 1 | name |
| 13814170 | CV575343 | single nucleotide variant | NM_001018113.3(FANCB):c.477A>C (p.Lys159Asn) | Fanconi anemia [RCV000690711] | uncertain significance | X | 14865034 | 14865034 | Human | 1 | name |
| 14737837 | CV649740 | single nucleotide variant | NM_001018113.3(FANCB):c.923C>T (p.Ala308Val) | Fanconi anemia [RCV000820668] | uncertain significance | X | 14864588 | 14864588 | Human | 1 | name |
| 14732808 | CV649741 | single nucleotide variant | NM_001018113.3(FANCB):c.898G>T (p.Val300Phe) | Fanconi anemia [RCV000802021]|Fanconi anemia complementation group B [RCV002487698] | uncertain significance | X | 14864613 | 14864613 | Human | 2 | name |
| 14716637 | CV649742 | single nucleotide variant | NM_001018113.3(FANCB):c.833A>G (p.Gln278Arg) | Fanconi anemia [RCV000811640]|Fanconi anemia complementation group B [RCV003145169]|not provided [RCV000999328] | likely benign|uncertain significance | X | 14864678 | 14864678 | Human | 2 | name |
| 14975339 | CV678981 | deletion | NM_001018113.1(FANCB):c.(?_-268)_(*160_?)del | Fanconi anemia complementation group B [RCV000851548] | pathogenic | | | | Human | 1 | name |
| 14975347 | CV678994 | single nucleotide variant | NM_001018113.3(FANCB):c.986T>C (p.Leu329Pro) | Fanconi anemia complementation group B [RCV000851558] | pathogenic | X | 14859300 | 14859300 | Human | 1 | name |
| 14975345 | CV678996 | single nucleotide variant | NM_001018113.3(FANCB):c.949C>T (p.Gln317Ter) | Fanconi anemia complementation group B [RCV000851556] | pathogenic | X | 14864562 | 14864562 | Human | 1 | name |
| 26896817 | CV849700 | single nucleotide variant | NM_001018113.3(FANCB):c.688C>T (p.Pro230Ser) | Fanconi anemia [RCV001048262]|Fanconi anemia complementation group B [RCV005047243] | likely benign|uncertain significance | X | 14864823 | 14864823 | Human | 2 | name |
| 28875258 | CV902840 | single nucleotide variant | NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser) | Fanconi anemia complementation group B [RCV001169688]|VACTERL association, X-linked, with or without hydrocephalus [RCV001165701] | uncertain significance | X | 14864702 | 14864702 | Human | 2 | name |
| 28875262 | CV902841 | single nucleotide variant | NM_001018113.3(FANCB):c.362G>A (p.Arg121His) | Fanconi anemia [RCV001511171]|Fanconi anemia complementation group B [RCV001165702]|Inborn genetic diseases [RCV002558612]|VACTERL association, X-linked, with or without hydrocephalus [RCV001165703]|not provided [RCV003438696] | benign|likely benign|uncertain significance | X | 14865149 | 14865149 | Human | 4 | name |
| 38466856 | CV939459 | single nucleotide variant | NM_001018113.3(FANCB):c.458T>A (p.Ile153Asn) | Fanconi anemia [RCV001212847]|Fanconi anemia complementation group B [RCV005040024]|Inborn genetic diseases [RCV002561798] | likely benign|uncertain significance | X | 14865053 | 14865053 | Human | 3 | name |
| 38497724 | CV951631 | single nucleotide variant | NM_001018113.3(FANCB):c.508A>G (p.Ile170Val) | Fanconi anemia [RCV001227268] | uncertain significance | X | 14865003 | 14865003 | Human | 1 | name |
| 40886637 | CV974311 | single nucleotide variant | NM_001018113.3(FANCB):c.653A>C (p.Glu218Ala) | Fanconi anemia [RCV001880102]|Inborn genetic diseases [RCV001265822] | uncertain significance | X | 14864858 | 14864858 | Human | 2 | name |
| 8640387 | CV99371 | insertion | NM_001018113.1(FANCB):c.1105-3_1105-2insTATT | AllHighlyPenetrant [RCV000079363]|not specified [RCV000079363] | benign | X | 14857956 | 14857957 | Human | | name |
| 126766274 | CV999630 | single nucleotide variant | NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu) | FANCB-related disorder [RCV003898292]|Fanconi anemia [RCV001301818]|Fanconi anemia complementation group B [RCV002486161]|Inborn genetic diseases [RCV004978271] | likely benign|uncertain significance | X | 14864711 | 14864711 | Human | 4 | name , trait , alternate_id |
| 126760100 | CV999631 | single nucleotide variant | NM_001018113.3(FANCB):c.593A>C (p.Gln198Pro) | Fanconi anemia [RCV001309217]|Fanconi anemia complementation group B [RCV002493619] | uncertain significance | X | 14864918 | 14864918 | Human | 2 | name |
| 126738393 | CV999632 | single nucleotide variant | NM_001018113.3(FANCB):c.440T>C (p.Val147Ala) | Fanconi anemia [RCV001304993] | uncertain significance | X | 14865071 | 14865071 | Human | 1 | name |
| 126735795 | CV1014783 | single nucleotide variant | NM_001018113.3(FANCB):c.2470T>G (p.Leu824Val) | Fanconi anemia [RCV001324568] | uncertain significance | X | 14843677 | 14843677 | Human | 1 | name |
| 126772773 | CV1014784 | single nucleotide variant | NM_001018113.3(FANCB):c.2159A>G (p.Tyr720Cys) | Fanconi anemia [RCV001323948]|not provided [RCV004692505] | uncertain significance | X | 14844509 | 14844509 | Human | 1 | name |
| 126770652 | CV1014785 | single nucleotide variant | NM_001018113.3(FANCB):c.1582A>G (p.Ile528Val) | Fanconi anemia [RCV001322701] | uncertain significance | X | 14845201 | 14845201 | Human | 1 | name |
| 126773240 | CV1014786 | single nucleotide variant | NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly) | FANCB-related disorder [RCV003416208]|Fanconi anemia [RCV001324210]|Fanconi anemia complementation group B [RCV005005173] | uncertain significance | X | 14857941 | 14857941 | Human | 2 | name , trait , alternate_id |
| 126756709 | CV1035373 | single nucleotide variant | NM_001018113.3(FANCB):c.2293A>G (p.Lys765Glu) | Fanconi anemia [RCV001339357]|Fanconi anemia complementation group B [RCV005050340] | uncertain significance | X | 14843854 | 14843854 | Human | 2 | name |
| 126748925 | CV1035374 | single nucleotide variant | NM_001018113.3(FANCB):c.2144G>T (p.Gly715Val) | Fanconi anemia [RCV001351956] | uncertain significance | X | 14844524 | 14844524 | Human | 1 | name |
| 126734750 | CV1035375 | single nucleotide variant | NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro) | Fanconi anemia [RCV001349991]|Fanconi anemia complementation group B [RCV005005199]|not provided [RCV004692613] | likely benign|uncertain significance | X | 14844945 | 14844945 | Human | 2 | name |
| 126749346 | CV1035376 | single nucleotide variant | NM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln) | Fanconi anemia [RCV001352034]|Fanconi anemia complementation group B [RCV005005202]|not provided [RCV004809572] | likely benign|uncertain significance | X | 14853139 | 14853139 | Human | 2 | name |
| 126760561 | CV1035377 | single nucleotide variant | NM_001018113.3(FANCB):c.1021G>A (p.Val341Ile) | Fanconi anemia [RCV001340439] | uncertain significance | X | 14859265 | 14859265 | Human | 1 | name |
| 126923524 | CV1052296 | single nucleotide variant | NM_001018113.3(FANCB):c.1703A>C (p.His568Pro) | Fanconi anemia [RCV001365944] | uncertain significance | X | 14845080 | 14845080 | Human | 1 | name |
| 126921109 | CV1052297 | single nucleotide variant | NM_001018113.3(FANCB):c.1267T>C (p.Tyr423His) | Fanconi anemia [RCV001363285]|not provided [RCV003438752] | likely benign|uncertain significance | X | 14853098 | 14853098 | Human | 1 | name |
| 127297878 | CV1129423 | single nucleotide variant | NM_001018113.3(FANCB):c.1912A>G (p.Lys638Glu) | Fanconi anemia [RCV001460372]|not provided [RCV003238370] | likely benign|uncertain significance | X | 14844871 | 14844871 | Human | 1 | name |
| 127332600 | CV1150457 | single nucleotide variant | NM_001018113.3(FANCB):c.1894T>G (p.Tyr632Asp) | Fanconi anemia [RCV001489594] | likely benign | X | 14844889 | 14844889 | Human | 1 | name |
| 150521043 | CV1289950 | single nucleotide variant | NM_001018113.3(FANCB):c.1008T>A (p.Ser336Arg) | not provided [RCV001730327] | uncertain significance | X | 14859278 | 14859278 | Human | | name |
| 150543001 | CV1302845 | single nucleotide variant | NM_001018113.3(FANCB):c.1103C>T (p.Ser368Leu) | FANCB-related disorder [RCV003892830]|Fanconi anemia [RCV002074016]|Fanconi anemia complementation group B [RCV005396998]|not provided [RCV001761472] | likely benign|uncertain significance | X | 14859183 | 14859183 | Human | 3 | name , trait , alternate_id |
| 150553939 | CV1309617 | single nucleotide variant | NM_001018113.3(FANCB):c.2365G>A (p.Glu789Lys) | Inborn genetic diseases [RCV002540720]|not provided [RCV003238662] | uncertain significance | X | 14843782 | 14843782 | Human | 1 | name |
| 150553940 | CV1309618 | single nucleotide variant | NM_001018113.3(FANCB):c.2146A>T (p.Ile716Phe) | Fanconi anemia [RCV001885108]|not provided [RCV003238663] | uncertain significance | X | 14844522 | 14844522 | Human | 1 | name |
| 150548224 | CV1310107 | single nucleotide variant | NM_001018113.3(FANCB):c.1225C>T (p.Arg409Trp) | Fanconi anemia [RCV002077211]|not provided [RCV003238106] | likely benign|uncertain significance | X | 14853140 | 14853140 | Human | 1 | name |
| 151354694 | CV1327761 | single nucleotide variant | NM_001018113.3(FANCB):c.1729A>T (p.Ile577Leu) | not specified [RCV001819236] | uncertain significance | X | 14845054 | 14845054 | Human | | name |
| 151356007 | CV1328771 | single nucleotide variant | NM_001018113.3(FANCB):c.2438G>T (p.Arg813Ile) | Fanconi anemia [RCV001869746]|Fanconi anemia complementation group B [RCV005040398]|not provided [RCV003883708]|not specified [RCV001822360] | uncertain significance | X | 14843709 | 14843709 | Human | 2 | name |
| 151893341 | CV1338139 | single nucleotide variant | NM_001018113.3(FANCB):c.1487C>G (p.Ser496Cys) | Fanconi anemia [RCV001944938]|Fanconi anemia complementation group B [RCV002490032] | uncertain significance | X | 14850514 | 14850514 | Human | 2 | name |
| 151757839 | CV1340443 | single nucleotide variant | NM_001018113.3(FANCB):c.1763T>C (p.Leu588Ser) | Fanconi anemia [RCV001913636] | uncertain significance | X | 14845020 | 14845020 | Human | 1 | name |
| 151794376 | CV1348219 | single nucleotide variant | NM_001018113.3(FANCB):c.1130A>G (p.Asp377Gly) | Fanconi anemia [RCV001876805]|Fanconi anemia complementation group B [RCV002482475] | uncertain significance | X | 14857929 | 14857929 | Human | 2 | name |
| 151731484 | CV1355480 | single nucleotide variant | NM_001018113.3(FANCB):c.1120T>C (p.Cys374Arg) | Fanconi anemia [RCV001984252] | uncertain significance | X | 14857939 | 14857939 | Human | 1 | name |
| 151763115 | CV1356994 | single nucleotide variant | NM_001018113.3(FANCB):c.1670A>T (p.Asp557Val) | Fanconi anemia [RCV001970417]|Fanconi anemia complementation group B [RCV005042620]|Inborn genetic diseases [RCV002569276] | uncertain significance | X | 14845113 | 14845113 | Human | 3 | name |
| 151759163 | CV1361687 | single nucleotide variant | NM_001018113.3(FANCB):c.2477C>A (p.Thr826Lys) | Fanconi anemia [RCV001928306] | uncertain significance | X | 14843670 | 14843670 | Human | 1 | name |
| 151778176 | CV1370607 | single nucleotide variant | NM_001018113.3(FANCB):c.1105A>G (p.Ser369Gly) | Fanconi anemia [RCV001864714] | uncertain significance | X | 14857954 | 14857954 | Human | 1 | name |
| 151825009 | CV1373381 | single nucleotide variant | NM_001018113.3(FANCB):c.2331A>G (p.Ile777Met) | FANCB-related disorder [RCV003892900]|Fanconi anemia [RCV001934510] | uncertain significance | X | 14843816 | 14843816 | Human | 1 | name , trait , alternate_id |
| 151768887 | CV1383525 | single nucleotide variant | NM_001018113.3(FANCB):c.2329A>G (p.Ile777Val) | Fanconi anemia [RCV001874248] | uncertain significance | X | 14843818 | 14843818 | Human | 1 | name |
| 151824983 | CV1392016 | single nucleotide variant | NM_001018113.3(FANCB):c.1342C>A (p.Pro448Thr) | Fanconi anemia [RCV001879571] | uncertain significance | X | 14850659 | 14850659 | Human | 1 | name |
| 151789156 | CV1394178 | single nucleotide variant | NM_001018113.3(FANCB):c.1441C>T (p.Arg481Cys) | Fanconi anemia [RCV002046931] | uncertain significance | X | 14850560 | 14850560 | Human | 1 | name |
| 151775873 | CV1398855 | single nucleotide variant | NM_001018113.3(FANCB):c.2553T>A (p.Phe851Leu) | Fanconi anemia [RCV001929972] | uncertain significance | X | 14843594 | 14843594 | Human | 1 | name |
| 151790033 | CV1399755 | single nucleotide variant | NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg) | Fanconi anemia [RCV001916728]|Fanconi anemia complementation group B [RCV002484554]|Fanconi anemia complementation group B [RCV003146360] | uncertain significance | X | 14853048 | 14853048 | Human | 2 | name |
| 151882253 | CV1402577 | single nucleotide variant | NM_001018113.3(FANCB):c.2020G>C (p.Val674Leu) | Fanconi anemia [RCV001961882] | uncertain significance | X | 14844648 | 14844648 | Human | 1 | name |
| 151805621 | CV1429923 | single nucleotide variant | NM_001018113.3(FANCB):c.1009G>A (p.Gly337Arg) | Fanconi anemia [RCV001974307] | uncertain significance | X | 14859277 | 14859277 | Human | 1 | name |
| 151816648 | CV1441038 | single nucleotide variant | NM_001018113.3(FANCB):c.1159C>T (p.Arg387Cys) | Fanconi anemia [RCV001933740] | uncertain significance | X | 14857900 | 14857900 | Human | 1 | name |
| 151711148 | CV1443720 | single nucleotide variant | NM_001018113.3(FANCB):c.1736C>T (p.Thr579Ile) | Fanconi anemia [RCV001908033] | uncertain significance | X | 14845047 | 14845047 | Human | 1 | name |
| 151862628 | CV1448914 | single nucleotide variant | NM_001018113.3(FANCB):c.2428C>T (p.His810Tyr) | Fanconi anemia [RCV001959416] | uncertain significance | X | 14843719 | 14843719 | Human | 1 | name |
| 151843564 | CV1457605 | single nucleotide variant | NM_001018113.3(FANCB):c.1501C>G (p.Leu501Val) | Fanconi anemia [RCV001936412] | uncertain significance | X | 14845282 | 14845282 | Human | 1 | name |
| 151843899 | CV1457691 | single nucleotide variant | NM_001018113.3(FANCB):c.2047G>A (p.Glu683Lys) | Fanconi anemia [RCV001936452] | uncertain significance | X | 14844621 | 14844621 | Human | 1 | name |
| 151763853 | CV1462174 | single nucleotide variant | NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp) | FANCB-related disorder [RCV003978448]|Fanconi anemia [RCV001970490]|Fanconi anemia complementation group B [RCV002272548] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | X | 14853149 | 14853149 | Human | 2 | name , trait , alternate_id |
| 151730694 | CV1463959 | single nucleotide variant | NM_001018113.3(FANCB):c.2015T>C (p.Met672Thr) | Fanconi anemia [RCV001946016] | uncertain significance | X | 14844653 | 14844653 | Human | 1 | name |
| 151873141 | CV1467226 | single nucleotide variant | NM_001018113.3(FANCB):c.1160G>A (p.Arg387His) | Fanconi anemia [RCV001925471] | uncertain significance | X | 14857899 | 14857899 | Human | 1 | name |
| 151716981 | CV1470776 | single nucleotide variant | NM_001018113.3(FANCB):c.2218A>G (p.Ile740Val) | Fanconi anemia [RCV001909115]|Inborn genetic diseases [RCV002555334] | uncertain significance | X | 14843929 | 14843929 | Human | 2 | name |
| 151881326 | CV1484186 | single nucleotide variant | NM_001018113.3(FANCB):c.2371A>G (p.Ser791Gly) | Fanconi anemia [RCV001941085] | uncertain significance | X | 14843776 | 14843776 | Human | 1 | name |
| 151746505 | CV1485210 | single nucleotide variant | NM_001018113.3(FANCB):c.1610C>T (p.Ala537Val) | Fanconi anemia [RCV002006367] | uncertain significance | X | 14845173 | 14845173 | Human | 1 | name |
| 151819688 | CV1488379 | single nucleotide variant | NM_001018113.3(FANCB):c.1613C>G (p.Pro538Arg) | Fanconi anemia [RCV001975607] | uncertain significance | X | 14845170 | 14845170 | Human | 1 | name |
| 151731495 | CV1489832 | single nucleotide variant | NM_001018113.3(FANCB):c.1437G>A (p.Trp479Ter) | Fanconi anemia [RCV001910916] | pathogenic | X | 14850564 | 14850564 | Human | 1 | name |
| 151783268 | CV1491825 | single nucleotide variant | NM_001018113.3(FANCB):c.1318G>A (p.Ala440Thr) | Fanconi anemia [RCV002026467] | uncertain significance | X | 14853047 | 14853047 | Human | 1 | name |
| 151720259 | CV1496673 | single nucleotide variant | NM_001018113.3(FANCB):c.2140G>A (p.Glu714Lys) | Fanconi anemia [RCV001909614] | uncertain significance | X | 14844528 | 14844528 | Human | 1 | name |
| 151724002 | CV1500385 | single nucleotide variant | NM_001018113.3(FANCB):c.2521A>G (p.Lys841Glu) | Fanconi anemia [RCV001910110]|Inborn genetic diseases [RCV002425233]|not specified [RCV002266058] | uncertain significance | X | 14843626 | 14843626 | Human | 2 | name |
| 151837172 | CV1501113 | single nucleotide variant | NM_001018113.3(FANCB):c.2173A>G (p.Thr725Ala) | Fanconi anemia [RCV001977267]|Inborn genetic diseases [RCV004976042] | uncertain significance | X | 14843974 | 14843974 | Human | 2 | name |
| 151774415 | CV1505090 | single nucleotide variant | NM_001018113.3(FANCB):c.1251A>C (p.Lys417Asn) | Fanconi anemia [RCV001988552] | uncertain significance | X | 14853114 | 14853114 | Human | 1 | name |
| 151885299 | CV1506912 | single nucleotide variant | NM_001018113.3(FANCB):c.1615T>C (p.Tyr539His) | Fanconi anemia [RCV001962514]|Fanconi anemia complementation group B [RCV002484659] | uncertain significance | X | 14845168 | 14845168 | Human | 2 | name |
| 152100049 | CV1578687 | single nucleotide variant | NM_001018113.3(FANCB):c.1924A>G (p.Ile642Val) | Fanconi anemia [RCV002151701] | likely benign | X | 14844859 | 14844859 | Human | 1 | name |
| 152165004 | CV1625785 | single nucleotide variant | NM_001018113.3(FANCB):c.2563A>G (p.Lys855Glu) | Fanconi anemia [RCV002160362] | likely benign | X | 14843584 | 14843584 | Human | 1 | name |
| 152087244 | CV1625836 | single nucleotide variant | NM_001018113.3(FANCB):c.2554G>A (p.Ala852Thr) | Fanconi anemia [RCV002131582] | likely benign | X | 14843593 | 14843593 | Human | 1 | name |
| 152140838 | CV1628837 | single nucleotide variant | NM_001018113.3(FANCB):c.1970A>G (p.Lys657Arg) | Fanconi anemia [RCV002100752] | likely benign | X | 14844698 | 14844698 | Human | 1 | name |
| 152061659 | CV1666390 | single nucleotide variant | NM_001018113.3(FANCB):c.1624C>T (p.Pro542Ser) | Fanconi anemia [RCV005095736]|Fanconi anemia complementation group B [RCV002208735] | uncertain significance | X | 14845159 | 14845159 | Human | 2 | name |
| 153002151 | CV1684971 | single nucleotide variant | NM_001018113.3(FANCB):c.1496T>C (p.Leu499Pro) | Fanconi anemia [RCV002258570] | uncertain significance | X | 14850505 | 14850505 | Human | 1 | name |
| 153001829 | CV1684972 | single nucleotide variant | NM_001018113.3(FANCB):c.1552T>A (p.Phe518Ile) | Fanconi anemia [RCV002257247] | likely benign | X | 14845231 | 14845231 | Human | 1 | name |
| 153001281 | CV1684973 | single nucleotide variant | NM_001018113.3(FANCB):c.1556G>A (p.Arg519Gln) | Fanconi anemia [RCV002255929] | likely benign | X | 14845227 | 14845227 | Human | 1 | name |
| 153002482 | CV1684976 | single nucleotide variant | NM_001018113.3(FANCB):c.2530G>A (p.Glu844Lys) | Fanconi anemia [RCV002259228] | uncertain significance | X | 14843617 | 14843617 | Human | 1 | name |
| 155744443 | CV1771341 | single nucleotide variant | NM_001018113.3(FANCB):c.1064C>T (p.Thr355Ile) | Fanconi anemia [RCV002303185] | uncertain significance | X | 14859222 | 14859222 | Human | 1 | name |
| 156358476 | CV1873867 | single nucleotide variant | NM_001018113.3(FANCB):c.1177C>T (p.Pro393Ser) | Fanconi anemia [RCV003065437]|Fanconi anemia complementation group B [RCV003143463] | uncertain significance | X | 14857882 | 14857882 | Human | 2 | name |
| 156181895 | CV1874271 | single nucleotide variant | NM_001018113.3(FANCB):c.2021T>C (p.Val674Ala) | Fanconi anemia [RCV003083587] | uncertain significance | X | 14844647 | 14844647 | Human | 1 | name |
| 156394511 | CV1876402 | single nucleotide variant | NM_001018113.3(FANCB):c.1727A>G (p.Gln576Arg) | Fanconi anemia [RCV003068428] | uncertain significance | X | 14845056 | 14845056 | Human | 1 | name |
| 156274187 | CV1880491 | single nucleotide variant | NM_001018113.3(FANCB):c.2228T>A (p.Phe743Tyr) | Fanconi anemia [RCV003060828] | uncertain significance | X | 14843919 | 14843919 | Human | 1 | name |
| 156022722 | CV1882479 | single nucleotide variant | NM_001018113.3(FANCB):c.2020G>A (p.Val674Met) | Fanconi anemia [RCV003077704] | uncertain significance | X | 14844648 | 14844648 | Human | 1 | name |
| 156343244 | CV1897121 | single nucleotide variant | NM_001018113.3(FANCB):c.1726C>G (p.Gln576Glu) | Fanconi anemia [RCV003090486] | likely benign | X | 14845057 | 14845057 | Human | 1 | name |
| 156006737 | CV1902789 | single nucleotide variant | NM_001018113.3(FANCB):c.2515A>G (p.Thr839Ala) | Fanconi anemia [RCV003099068] | uncertain significance | X | 14843632 | 14843632 | Human | 1 | name |
| 156368156 | CV1904894 | single nucleotide variant | NM_001018113.3(FANCB):c.1243A>G (p.Lys415Glu) | Fanconi anemia [RCV002582221] | uncertain significance | X | 14853122 | 14853122 | Human | 1 | name |
| 156258649 | CV1906387 | single nucleotide variant | NM_001018113.3(FANCB):c.2195A>G (p.His732Arg) | Fanconi anemia [RCV003086359]|Fanconi anemia complementation group B [RCV005045283] | uncertain significance | X | 14843952 | 14843952 | Human | 2 | name |
| 156164372 | CV1907650 | single nucleotide variant | NM_001018113.3(FANCB):c.1256T>C (p.Ile419Thr) | Fanconi anemia [RCV003083022] | uncertain significance | X | 14853109 | 14853109 | Human | 1 | name |
| 156436743 | CV1940317 | single nucleotide variant | NM_001018113.3(FANCB):c.2507G>A (p.Arg836Lys) | Fanconi anemia [RCV003106267] | uncertain significance | X | 14843640 | 14843640 | Human | 1 | name |
| 10052468 | CV194866 | single nucleotide variant | NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) | Fanconi anemia [RCV000865306]|Fanconi anemia complementation group B [RCV001167816]|Inborn genetic diseases [RCV002453636]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167815]|not provided [RCV003436973]|not specified [RCV000178817] | benign|likely benign|uncertain significance | X | 14857919 | 14857919 | Human | 4 | name |
| 156348462 | CV2005386 | single nucleotide variant | NM_001018113.3(FANCB):c.1654G>T (p.Val552Phe) | Fanconi anemia [RCV002650703] | uncertain significance | X | 14845129 | 14845129 | Human | 1 | name |
| 156143950 | CV2044624 | single nucleotide variant | NM_001018113.3(FANCB):c.1107T>G (p.Ser369Arg) | Fanconi anemia [RCV002801058] | uncertain significance | X | 14857952 | 14857952 | Human | 1 | name |
| 156255091 | CV2060620 | single nucleotide variant | NM_001018113.3(FANCB):c.1694T>C (p.Val565Ala) | Fanconi anemia [RCV002791825] | uncertain significance | X | 14845089 | 14845089 | Human | 1 | name |
| 156088707 | CV2080164 | single nucleotide variant | NM_001018113.3(FANCB):c.1192C>A (p.Leu398Met) | Fanconi anemia [RCV002847635] | uncertain significance | X | 14857867 | 14857867 | Human | 1 | name |
| 156165123 | CV2091684 | single nucleotide variant | NM_001018113.3(FANCB):c.2275A>G (p.Met759Val) | Fanconi anemia [RCV002891144] | uncertain significance | X | 14843872 | 14843872 | Human | 1 | name |
| 156300525 | CV2104914 | single nucleotide variant | NM_001018113.3(FANCB):c.2219T>C (p.Ile740Thr) | Fanconi anemia [RCV002922551] | uncertain significance | X | 14843928 | 14843928 | Human | 1 | name |
| 156310593 | CV2111294 | single nucleotide variant | NM_001018113.3(FANCB):c.1765A>G (p.Thr589Ala) | Fanconi anemia [RCV002937140] | uncertain significance | X | 14845018 | 14845018 | Human | 1 | name |
| 156289579 | CV2115154 | single nucleotide variant | NM_001018113.3(FANCB):c.1840T>C (p.Tyr614His) | Fanconi anemia [RCV002922095] | uncertain significance | X | 14844943 | 14844943 | Human | 1 | name |
| 156121221 | CV2128534 | single nucleotide variant | NM_001018113.3(FANCB):c.2165G>T (p.Arg722Met) | Fanconi anemia [RCV002953504] | uncertain significance | X | 14844503 | 14844503 | Human | 1 | name |
| 156270139 | CV2136458 | single nucleotide variant | NM_001018113.3(FANCB):c.2035C>T (p.His679Tyr) | Fanconi anemia [RCV003009234] | uncertain significance | X | 14844633 | 14844633 | Human | 1 | name |
| 155962466 | CV2140683 | single nucleotide variant | NM_001018113.3(FANCB):c.1865T>C (p.Leu622Ser) | Fanconi anemia [RCV003015537] | uncertain significance | X | 14844918 | 14844918 | Human | 1 | name |
| 156076339 | CV2165626 | single nucleotide variant | NM_001018113.3(FANCB):c.1010G>A (p.Gly337Glu) | Fanconi anemia [RCV003037732] | uncertain significance | X | 14859276 | 14859276 | Human | 1 | name |
| 156270820 | CV2237049 | single nucleotide variant | NM_001018113.3(FANCB):c.2396C>T (p.Ala799Val) | Inborn genetic diseases [RCV002792460] | likely benign | X | 14843751 | 14843751 | Human | 1 | name |
| 156023767 | CV2245511 | single nucleotide variant | NM_001018113.3(FANCB):c.1219G>A (p.Glu407Lys) | Inborn genetic diseases [RCV002757533] | uncertain significance | X | 14853146 | 14853146 | Human | 1 | name |
| 243058924 | CV2409998 | single nucleotide variant | NM_001018113.3(FANCB):c.2053A>G (p.Ile685Val) | Fanconi anemia [RCV003636001]|Fanconi anemia complementation group B [RCV003147172] | likely benign|uncertain significance | X | 14844615 | 14844615 | Human | 2 | name |
| 243058925 | CV2409999 | single nucleotide variant | NM_001018113.3(FANCB):c.2373C>G (p.Ser791Arg) | Fanconi anemia complementation group B [RCV003147173] | uncertain significance | X | 14843774 | 14843774 | Human | 1 | name |
| 11524027 | CV245217 | single nucleotide variant | NM_001018113.3(FANCB):c.1342C>T (p.Pro448Ser) | Fanconi anemia [RCV000236979] | uncertain significance | X | 14850659 | 14850659 | Human | 1 | name |
| 11523438 | CV245218 | single nucleotide variant | NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) | FANCB-related disorder [RCV003907910]|Fanconi anemia [RCV001080424]|Fanconi anemia complementation group A [RCV000990470]|Fanconi anemia complementation group B [RCV000292661]|History of neurodevelopmental disorder [RCV000720996]|Malignant tumor of breast [RCV00 1269483]|VACTERL association, X-linked, with or without hydrocephalus [RCV000375315]|not provided [RCV000437503]|not specified [RCV001726070] | benign|likely benign|uncertain significance | X | 14845014 | 14845014 | Human | 6 | name , trait , alternate_id |
| 11523761 | CV245219 | single nucleotide variant | NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser) | FANCB-related disorder [RCV003930015]|Fanconi anemia [RCV000236495]|Fanconi anemia complementation group B [RCV003316313]|History of neurodevelopmental disorder [RCV000721015]|not provided [RCV001727653]|not specified [RCV000503767] | benign|likely benign|uncertain significance | X | 14844672 | 14844672 | Human | 2 | name , trait , alternate_id |
| 11524079 | CV245220 | single nucleotide variant | NM_001018113.3(FANCB):c.2090C>T (p.Pro697Leu) | FANCB-related disorder [RCV003947807]|Fanconi anemia [RCV000237072]|not provided [RCV003884430]|not specified [RCV001820789] | benign|likely benign|uncertain significance | X | 14844578 | 14844578 | Human | 1 | name , trait , alternate_id |
| 11523782 | CV245222 | single nucleotide variant | NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) | FANCB-related disorder [RCV003947808]|Fanconi anemia [RCV000236537]|Fanconi anemia complementation group B [RCV000390121]|VACTERL association, X-linked, with or without hydrocephalus [RCV000301708]|not provided [RCV003437033]|not specified [RCV000502067] | benign|likely benign | X | 14843695 | 14843695 | Human | 3 | name , trait , alternate_id |
| 329361245 | CV2459528 | single nucleotide variant | NM_001018113.3(FANCB):c.1091A>G (p.Lys364Arg) | Inborn genetic diseases [RCV003205445] | uncertain significance | X | 14859195 | 14859195 | Human | 1 | name |
| 11543021 | CV257770 | single nucleotide variant | NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) | Fanconi anemia [RCV000461854]|Fanconi anemia complementation group B [RCV000365780]|Inborn genetic diseases [RCV002317780]|VACTERL association, X-linked, with or without hydrocephalus [RCV000301775]|not provided [RCV001711800]|not specified [RCV000241904] | benign|likely benign | X | 14859282 | 14859282 | Human | 4 | name |
| 11639483 | CV265612 | single nucleotide variant | NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met) | FANCB-related disorder [RCV003947831]|Fanconi anemia [RCV001087773]|Inborn genetic diseases [RCV002518813]|not provided [RCV000514485] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | X | 14845125 | 14845125 | Human | 2 | name , trait , alternate_id |
| 401921814 | CV2800045 | single nucleotide variant | NM_001018113.3(FANCB):c.1837C>G (p.Arg613Gly) | FANCB-related disorder [RCV003403105]|Fanconi anemia [RCV005099995] | uncertain significance | X | 14844946 | 14844946 | Human | 1 | name , trait , alternate_id |
| 401905028 | CV2823911 | single nucleotide variant | NM_001410764.1(FANCB):c.2654G>A (p.Trp885Ter) | not provided [RCV003441029] | uncertain significance | X | 14796872 | 14796872 | Human | | name |
| 405073750 | CV2866189 | single nucleotide variant | NM_001018113.3(FANCB):c.1826G>A (p.Cys609Tyr) | Fanconi anemia [RCV003524011] | uncertain significance | X | 14844957 | 14844957 | Human | 1 | name |
| 405074444 | CV2866628 | single nucleotide variant | NM_001018113.3(FANCB):c.2330T>C (p.Ile777Thr) | Fanconi anemia [RCV003524060] | uncertain significance | X | 14843817 | 14843817 | Human | 1 | name |
| 404990210 | CV2882771 | single nucleotide variant | NM_001018113.3(FANCB):c.1579G>A (p.Val527Met) | Fanconi anemia [RCV003524976] | uncertain significance | X | 14845204 | 14845204 | Human | 1 | name |
| 404992240 | CV2894233 | single nucleotide variant | NM_001018113.3(FANCB):c.2139C>A (p.Phe713Leu) | Fanconi anemia [RCV003525198] | uncertain significance | X | 14844529 | 14844529 | Human | 1 | name |
| 405069994 | CV2911734 | single nucleotide variant | NM_001018113.3(FANCB):c.2291A>C (p.Glu764Ala) | Fanconi anemia [RCV003523751] | uncertain significance | X | 14843856 | 14843856 | Human | 1 | name |
| 405151872 | CV2952453 | single nucleotide variant | NM_001018113.3(FANCB):c.1586A>C (p.Lys529Thr) | Fanconi anemia [RCV003636891] | uncertain significance | X | 14845197 | 14845197 | Human | 1 | name |
| 405153877 | CV2965109 | single nucleotide variant | NM_001018113.3(FANCB):c.2223C>G (p.Asn741Lys) | Fanconi anemia [RCV003637045] | uncertain significance | X | 14843924 | 14843924 | Human | 1 | name |
| 405153293 | CV2968116 | single nucleotide variant | NM_001018113.3(FANCB):c.2353A>G (p.Met785Val) | Fanconi anemia [RCV003637000] | uncertain significance | X | 14843794 | 14843794 | Human | 1 | name |
| 405153815 | CV2968738 | single nucleotide variant | NM_001018113.3(FANCB):c.1406A>T (p.Gln469Leu) | Fanconi anemia [RCV003637041] | uncertain significance | X | 14850595 | 14850595 | Human | 1 | name |
| 405152377 | CV2970267 | single nucleotide variant | NM_001018113.3(FANCB):c.1819G>A (p.Gly607Ser) | Fanconi anemia [RCV003636928] | uncertain significance | X | 14844964 | 14844964 | Human | 1 | name |
| 405154050 | CV2972419 | single nucleotide variant | NM_001018113.3(FANCB):c.1787C>A (p.Thr596Asn) | Fanconi anemia [RCV003637058] | uncertain significance | X | 14844996 | 14844996 | Human | 1 | name |
| 405157748 | CV2983847 | single nucleotide variant | NM_001018113.3(FANCB):c.1578G>T (p.Arg526Ser) | Fanconi anemia [RCV003637359] | likely benign | X | 14845205 | 14845205 | Human | 1 | name |
| 405161999 | CV2999121 | single nucleotide variant | NM_001018113.3(FANCB):c.1708T>C (p.Ser570Pro) | Fanconi anemia [RCV003637700] | uncertain significance | X | 14845075 | 14845075 | Human | 1 | name |
| 405163706 | CV3008034 | single nucleotide variant | NM_001018113.3(FANCB):c.2093G>C (p.Gly698Ala) | Fanconi anemia [RCV003637858] | uncertain significance | X | 14844575 | 14844575 | Human | 1 | name |
| 405164874 | CV3009040 | single nucleotide variant | NM_001018113.3(FANCB):c.1757C>T (p.Pro586Leu) | Fanconi anemia [RCV003637957] | uncertain significance | X | 14845026 | 14845026 | Human | 1 | name |
| 405140236 | CV3037241 | single nucleotide variant | NM_001018113.3(FANCB):c.2000A>C (p.Tyr667Ser) | Fanconi anemia [RCV003635763] | uncertain significance | X | 14844668 | 14844668 | Human | 1 | name |
| 405146366 | CV3044627 | single nucleotide variant | NM_001018113.3(FANCB):c.2467A>G (p.Met823Val) | Fanconi anemia [RCV003636408] | uncertain significance | X | 14843680 | 14843680 | Human | 1 | name |
| 405149270 | CV3058341 | single nucleotide variant | NM_001018113.3(FANCB):c.2055C>G (p.Ile685Met) | Fanconi anemia [RCV003636671] | uncertain significance | X | 14844613 | 14844613 | Human | 1 | name |
| 405148203 | CV3067165 | single nucleotide variant | NM_001018113.3(FANCB):c.1940A>T (p.Asp647Val) | Fanconi anemia [RCV003636575] | uncertain significance | X | 14844728 | 14844728 | Human | 1 | name |
| 405151209 | CV3073150 | single nucleotide variant | NM_001018113.3(FANCB):c.1373A>G (p.His458Arg) | Fanconi anemia [RCV003636838] | benign | X | 14850628 | 14850628 | Human | 1 | name |
| 405151563 | CV3075593 | single nucleotide variant | NM_001018113.3(FANCB):c.2395G>A (p.Ala799Thr) | Fanconi anemia [RCV003636867] | likely benign | X | 14843752 | 14843752 | Human | 1 | name |
| 405151456 | CV3078872 | single nucleotide variant | NM_001018113.3(FANCB):c.1393T>A (p.Ser465Thr) | Fanconi anemia [RCV003636859] | uncertain significance | X | 14850608 | 14850608 | Human | 1 | name |
| 405158865 | CV3079389 | single nucleotide variant | NM_001018113.3(FANCB):c.2276T>C (p.Met759Thr) | Fanconi anemia [RCV003637448] | likely benign | X | 14843871 | 14843871 | Human | 1 | name |
| 405027467 | CV3129760 | single nucleotide variant | NM_001018113.3(FANCB):c.1304A>G (p.Asp435Gly) | Fanconi anemia [RCV003830358]|Fanconi anemia complementation group B [RCV005040543] | uncertain significance | X | 14853061 | 14853061 | Human | 2 | name |
| 405129088 | CV3133247 | single nucleotide variant | NM_001018113.3(FANCB):c.1003G>A (p.Gly335Arg) | Fanconi anemia [RCV003838217] | uncertain significance | X | 14859283 | 14859283 | Human | 1 | name |
| 405106790 | CV3136179 | single nucleotide variant | NM_001018113.3(FANCB):c.1759C>G (p.Leu587Val) | Fanconi anemia [RCV003835525]|Inborn genetic diseases [RCV004366844] | likely benign|uncertain significance | X | 14845024 | 14845024 | Human | 2 | name |
| 405081211 | CV3137151 | single nucleotide variant | NM_001018113.3(FANCB):c.1549A>G (p.Arg517Gly) | Fanconi anemia [RCV003834050]|Inborn genetic diseases [RCV005335939] | likely benign | X | 14845234 | 14845234 | Human | 2 | name |
| 405150142 | CV3152075 | single nucleotide variant | NM_001018113.3(FANCB):c.2222A>T (p.Asn741Ile) | Fanconi anemia [RCV003856046] | likely benign | X | 14843925 | 14843925 | Human | 1 | name |
| 405206501 | CV3161991 | single nucleotide variant | NM_001018113.3(FANCB):c.1930C>T (p.His644Tyr) | Fanconi anemia [RCV003861485] | uncertain significance | X | 14844738 | 14844738 | Human | 1 | name |
| 405085132 | CV3167209 | single nucleotide variant | NM_001018113.3(FANCB):c.1215T>A (p.Phe405Leu) | Fanconi anemia [RCV003851790] | likely benign | X | 14853150 | 14853150 | Human | 1 | name |
| 402479824 | CV3170613 | single nucleotide variant | NM_001018113.3(FANCB):c.1369G>A (p.Val457Ile) | Fanconi anemia [RCV003875815] | uncertain significance | X | 14850632 | 14850632 | Human | 1 | name |
| 402470510 | CV3175195 | single nucleotide variant | NM_001018113.3(FANCB):c.2206A>G (p.Arg736Gly) | Fanconi anemia [RCV003874127] | uncertain significance | X | 14843941 | 14843941 | Human | 1 | name |
| 404994594 | CV3176491 | single nucleotide variant | NM_001018113.3(FANCB):c.1514C>G (p.Thr505Ser) | Fanconi anemia [RCV003881923] | uncertain significance | X | 14845269 | 14845269 | Human | 1 | name |
| 402492594 | CV3182609 | single nucleotide variant | NM_001018113.3(FANCB):c.2485A>G (p.Lys829Glu) | Fanconi anemia [RCV003877096] | uncertain significance | X | 14843662 | 14843662 | Human | 1 | name |
| 405762250 | CV3252988 | single nucleotide variant | NM_001018113.3(FANCB):c.2221A>C (p.Asn741His) | Inborn genetic diseases [RCV004383704] | uncertain significance | X | 14843926 | 14843926 | Human | 1 | name |
| 11613270 | CV338984 | single nucleotide variant | NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly) | FANCB-related disorder [RCV003897823]|Fanconi anemia [RCV001516420]|Fanconi anemia complementation group B [RCV000266661]|VACTERL association, X-linked, with or without hydrocephalus [RCV000358820] | benign|likely benign | X | 14843736 | 14843736 | Human | 3 | name , trait , alternate_id |
| 11612568 | CV338985 | single nucleotide variant | NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn) | Fanconi anemia [RCV001404085]|Fanconi anemia complementation group B [RCV000318403]|VACTERL association, X-linked, with or without hydrocephalus [RCV000260730]|not provided [RCV002512100] | likely benign|uncertain significance | X | 14844966 | 14844966 | Human | 3 | name |
| 11619940 | CV338987 | single nucleotide variant | NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) | Fanconi anemia [RCV000524700]|Fanconi anemia complementation group B [RCV000331306]|Fanconi anemia complementation group B [RCV002488832]|Inborn genetic diseases [RCV002392931]|VACTERL association, X-linked, with or without hydrocephalus [RCV000388194]|not provided [RCV004713874]|not specified [RCV0 00500090] | benign|likely benign|uncertain significance | X | 14850507 | 14850507 | Human | 4 | name |
| 405868585 | CV3400533 | single nucleotide variant | NM_001018113.3(FANCB):c.1570C>T (p.Gln524Ter) | Fanconi anemia complementation group B [RCV004576536] | likely pathogenic | X | 14845213 | 14845213 | Human | 1 | name |
| 11626508 | CV348561 | single nucleotide variant | NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) | Fanconi anemia complementation group B [RCV000265400]|VACTERL association, X-linked, with or without hydrocephalus [RCV000360054] | uncertain significance | X | 14859208 | 14859208 | Human | 2 | name |
| 11628304 | CV352099 | single nucleotide variant | NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met) | Fanconi anemia [RCV001516965]|Fanconi anemia complementation group B [RCV000335633]|Inborn genetic diseases [RCV004975493]|VACTERL association, X-linked, with or without hydrocephalus [RCV000299580] | benign|likely benign | X | 14853055 | 14853055 | Human | 4 | name |
| 408391208 | CV3523108 | single nucleotide variant | NM_001018113.3(FANCB):c.1103C>G (p.Ser368Trp) | not provided [RCV004770480] | uncertain significance | X | 14859183 | 14859183 | Human | | name |
| 11629472 | CV352782 | single nucleotide variant | NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly) | FANCB-related disorder [RCV003972550]|Fanconi anemia [RCV000630971]|Fanconi anemia complementation group B [RCV000324199]|Inborn genetic diseases [RCV002523824]|VACTERL association, X-linked, with or without hydrocephalus [RCV000353202] | benign|likely benign | X | 14843836 | 14843836 | Human | 4 | name , trait , alternate_id |
| 11628631 | CV352783 | single nucleotide variant | NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe) | Fanconi anemia complementation group B [RCV000305337]|VACTERL association, X-linked, with or without hydrocephalus [RCV000400535] | uncertain significance | X | 14853100 | 14853100 | Human | 2 | name |
| 597628641 | CV3675689 | single nucleotide variant | NM_001018113.3(FANCB):c.2248G>A (p.Gly750Arg) | Fanconi anemia complementation group B [RCV005051508]|Inborn genetic diseases [RCV004977623] | uncertain significance | X | 14843899 | 14843899 | Human | 2 | name |
| 597656292 | CV3729599 | single nucleotide variant | NM_001018113.3(FANCB):c.2454A>T (p.Arg818Ser) | Fanconi anemia complementation group B [RCV005041647] | uncertain significance | X | 14843693 | 14843693 | Human | 1 | name |
| 597656302 | CV3729600 | single nucleotide variant | NM_001018113.3(FANCB):c.2354T>C (p.Met785Thr) | Fanconi anemia complementation group B [RCV005041648] | uncertain significance | X | 14843793 | 14843793 | Human | 1 | name |
| 597656310 | CV3729601 | single nucleotide variant | NM_001018113.3(FANCB):c.2339A>G (p.His780Arg) | Fanconi anemia complementation group B [RCV005041649] | uncertain significance | X | 14843808 | 14843808 | Human | 1 | name |
| 597656329 | CV3729602 | single nucleotide variant | NM_001018113.3(FANCB):c.2329A>C (p.Ile777Leu) | Fanconi anemia complementation group B [RCV005041651] | uncertain significance | X | 14843818 | 14843818 | Human | 1 | name |
| 597656338 | CV3729604 | single nucleotide variant | NM_001018113.3(FANCB):c.2281T>G (p.Phe761Val) | Fanconi anemia complementation group B [RCV005041652] | uncertain significance | X | 14843866 | 14843866 | Human | 1 | name |
| 597656347 | CV3729605 | single nucleotide variant | NM_001018113.3(FANCB):c.2273A>G (p.Asn758Ser) | Fanconi anemia complementation group B [RCV005041653] | uncertain significance | X | 14843874 | 14843874 | Human | 1 | name |
| 597717194 | CV3729606 | single nucleotide variant | NM_001018113.3(FANCB):c.2267T>A (p.Ile756Asn) | Fanconi anemia complementation group B [RCV005049297] | uncertain significance | X | 14843880 | 14843880 | Human | 1 | name |
| 597656354 | CV3729607 | single nucleotide variant | NM_001018113.3(FANCB):c.2245T>A (p.Ser749Thr) | Fanconi anemia complementation group B [RCV005041654] | uncertain significance | X | 14843902 | 14843902 | Human | 1 | name |
| 597656363 | CV3729608 | single nucleotide variant | NM_001018113.3(FANCB):c.2176G>A (p.Val726Ile) | Fanconi anemia [RCV005105346]|Fanconi anemia complementation group B [RCV005041655] | uncertain significance | X | 14843971 | 14843971 | Human | 2 | name |
| 597717205 | CV3729609 | single nucleotide variant | NM_001018113.3(FANCB):c.2174C>A (p.Thr725Lys) | Fanconi anemia complementation group B [RCV005049298] | uncertain significance | X | 14843973 | 14843973 | Human | 1 | name |
| 597717218 | CV3729610 | single nucleotide variant | NM_001018113.3(FANCB):c.2050A>G (p.Ile684Val) | Fanconi anemia complementation group B [RCV005049299] | uncertain significance | X | 14844618 | 14844618 | Human | 1 | name |
| 597656379 | CV3729612 | single nucleotide variant | NM_001018113.3(FANCB):c.1867A>C (p.Ser623Arg) | Fanconi anemia complementation group B [RCV005041657] | uncertain significance | X | 14844916 | 14844916 | Human | 1 | name |
| 597656387 | CV3729613 | single nucleotide variant | NM_001018113.3(FANCB):c.1724T>A (p.Val575Glu) | Fanconi anemia complementation group B [RCV005041658] | uncertain significance | X | 14845059 | 14845059 | Human | 1 | name |
| 597656395 | CV3729614 | single nucleotide variant | NM_001018113.3(FANCB):c.1640T>C (p.Leu547Ser) | Fanconi anemia complementation group B [RCV005041659] | uncertain significance | X | 14845143 | 14845143 | Human | 1 | name |
| 597717230 | CV3729615 | single nucleotide variant | NM_001018113.3(FANCB):c.1623G>A (p.Met541Ile) | Fanconi anemia complementation group B [RCV005049300] | uncertain significance | X | 14845160 | 14845160 | Human | 1 | name |
| 597656405 | CV3729616 | single nucleotide variant | NM_001018113.3(FANCB):c.1597A>G (p.Asn533Asp) | Fanconi anemia complementation group B [RCV005041660] | uncertain significance | X | 14845186 | 14845186 | Human | 1 | name |
| 597656424 | CV3729617 | single nucleotide variant | NM_001018113.3(FANCB):c.1292A>G (p.Gln431Arg) | Fanconi anemia complementation group B [RCV005041662] | uncertain significance | X | 14853073 | 14853073 | Human | 1 | name |
| 597656431 | CV3729618 | single nucleotide variant | NM_001018113.3(FANCB):c.1217G>A (p.Arg406Gln) | Fanconi anemia complementation group B [RCV005041663] | uncertain significance | X | 14853148 | 14853148 | Human | 1 | name |
| 597656441 | CV3729619 | single nucleotide variant | NM_001018113.3(FANCB):c.1150C>G (p.Gln384Glu) | Fanconi anemia complementation group B [RCV005041664] | uncertain significance | X | 14857909 | 14857909 | Human | 1 | name |
| 597906674 | CV3738815 | single nucleotide variant | NM_001018113.3(FANCB):c.1654G>A (p.Val552Ile) | Fanconi anemia [RCV005073050] | uncertain significance | X | 14845129 | 14845129 | Human | 1 | name |
| 597864527 | CV3742199 | single nucleotide variant | NM_001018113.3(FANCB):c.2216C>G (p.Pro739Arg) | Fanconi anemia [RCV005067815] | uncertain significance | X | 14843931 | 14843931 | Human | 1 | name |
| 597971548 | CV3750762 | single nucleotide variant | NM_001018113.3(FANCB):c.1345C>G (p.Leu449Val) | Fanconi anemia [RCV005084506] | uncertain significance | X | 14850656 | 14850656 | Human | 1 | name |
| 597840598 | CV3756109 | single nucleotide variant | NM_001018113.3(FANCB):c.2360G>C (p.Arg787Thr) | Fanconi anemia [RCV005086381] | uncertain significance | X | 14843787 | 14843787 | Human | 1 | name |
| 597943563 | CV3758028 | single nucleotide variant | NM_001018113.3(FANCB):c.1354G>A (p.Glu452Lys) | Fanconi anemia [RCV005078027] | uncertain significance | X | 14850647 | 14850647 | Human | 1 | name |
| 597936208 | CV3777621 | single nucleotide variant | NM_001018113.3(FANCB):c.2523A>C (p.Lys841Asn) | Fanconi anemia [RCV005132534] | uncertain significance | X | 14843624 | 14843624 | Human | 1 | name |
| 597964950 | CV3797014 | single nucleotide variant | NM_001018113.3(FANCB):c.1524G>T (p.Leu508Phe) | Fanconi anemia [RCV005139974] | uncertain significance | X | 14845259 | 14845259 | Human | 1 | name |
| 597975358 | CV3799090 | single nucleotide variant | NM_001018113.3(FANCB):c.1060C>G (p.Leu354Val) | Fanconi anemia [RCV005144486] | uncertain significance | X | 14859226 | 14859226 | Human | 1 | name |
| 597883639 | CV3799433 | single nucleotide variant | NM_001018113.3(FANCB):c.1168G>T (p.Val390Leu) | Fanconi anemia [RCV005150100] | uncertain significance | X | 14857891 | 14857891 | Human | 1 | name |
| 597883710 | CV3799507 | single nucleotide variant | NM_001018113.3(FANCB):c.1556G>T (p.Arg519Leu) | Fanconi anemia [RCV005150174] | uncertain significance | X | 14845227 | 14845227 | Human | 1 | name |
| 597869318 | CV3803465 | single nucleotide variant | NM_001018113.3(FANCB):c.1379T>C (p.Leu460Ser) | Fanconi anemia [RCV005148062] | uncertain significance | X | 14850622 | 14850622 | Human | 1 | name |
| 597864646 | CV3814253 | single nucleotide variant | NM_001018113.3(FANCB):c.1595C>T (p.Thr532Ile) | Fanconi anemia [RCV005147322] | uncertain significance | X | 14845188 | 14845188 | Human | 1 | name |
| 597877127 | CV3825736 | single nucleotide variant | NM_001018113.3(FANCB):c.1754C>T (p.Ser585Leu) | Fanconi anemia [RCV005177610] | uncertain significance | X | 14845029 | 14845029 | Human | 1 | name |
| 597964105 | CV3830387 | single nucleotide variant | NM_001018113.3(FANCB):c.1288G>T (p.Val430Phe) | Fanconi anemia [RCV005164527] | uncertain significance | X | 14853077 | 14853077 | Human | 1 | name |
| 597832095 | CV3830906 | single nucleotide variant | NM_001018113.3(FANCB):c.1774A>G (p.Lys592Glu) | Fanconi anemia [RCV005170304] | uncertain significance | X | 14845009 | 14845009 | Human | 1 | name |
| 597974485 | CV3831674 | single nucleotide variant | NM_001018113.3(FANCB):c.1243A>C (p.Lys415Gln) | Fanconi anemia [RCV005168613] | uncertain significance | X | 14853122 | 14853122 | Human | 1 | name |
| 597940412 | CV3836680 | single nucleotide variant | NM_001018113.3(FANCB):c.1159C>A (p.Arg387Ser) | Fanconi anemia [RCV005187700] | uncertain significance | X | 14857900 | 14857900 | Human | 1 | name |
| 597955407 | CV3841231 | single nucleotide variant | NM_001018113.3(FANCB):c.2314T>G (p.Ser772Ala) | Fanconi anemia [RCV005191350] | uncertain significance | X | 14843833 | 14843833 | Human | 1 | name |
| 597963270 | CV3841473 | single nucleotide variant | NM_001018113.3(FANCB):c.2014A>G (p.Met672Val) | Fanconi anemia [RCV005193577] | uncertain significance | X | 14844654 | 14844654 | Human | 1 | name |
| 597904157 | CV3846111 | single nucleotide variant | NM_001018113.3(FANCB):c.2481C>A (p.Asn827Lys) | Fanconi anemia [RCV005181733] | uncertain significance | X | 14843666 | 14843666 | Human | 1 | name |
| 597873430 | CV3849867 | single nucleotide variant | NM_001018113.3(FANCB):c.1781G>C (p.Cys594Ser) | Fanconi anemia [RCV005197856] | uncertain significance | X | 14845002 | 14845002 | Human | 1 | name |
| 597967269 | CV3855769 | single nucleotide variant | NM_001018113.3(FANCB):c.1663A>G (p.Thr555Ala) | Fanconi anemia [RCV005194749] | uncertain significance | X | 14845120 | 14845120 | Human | 1 | name |
| 597873011 | CV3859188 | single nucleotide variant | NM_001018113.3(FANCB):c.1100A>G (p.Tyr367Cys) | Fanconi anemia [RCV005197777] | uncertain significance | X | 14859186 | 14859186 | Human | 1 | name |
| 598127346 | CV3888141 | single nucleotide variant | NM_001018113.3(FANCB):c.2239C>A (p.Leu747Ile) | not provided [RCV005242827] | likely benign | X | 14843908 | 14843908 | Human | | name |
| 598197988 | CV3955031 | single nucleotide variant | NM_001018113.3(FANCB):c.2020G>T (p.Val674Leu) | Inborn genetic diseases [RCV005336224] | uncertain significance | X | 14844648 | 14844648 | Human | 1 | name |
| 598197991 | CV3955032 | single nucleotide variant | NM_001018113.3(FANCB):c.1882T>C (p.Ser628Pro) | Inborn genetic diseases [RCV005336225] | uncertain significance | X | 14844901 | 14844901 | Human | 1 | name |
| 12887352 | CV404139 | single nucleotide variant | NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met) | FANCB-related disorder [RCV003960074]|Fanconi anemia [RCV000468906]|Fanconi anemia complementation group B [RCV001167168]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167740]|not provided [RCV003437214] | benign|likely benign | X | 14843670 | 14843670 | Human | 3 | name , trait , alternate_id |
| 12891207 | CV404144 | single nucleotide variant | NM_001018113.3(FANCB):c.2125C>G (p.Gln709Glu) | Fanconi anemia [RCV000476157] | uncertain significance | X | 14844543 | 14844543 | Human | 1 | name |
| 12884036 | CV404461 | single nucleotide variant | NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) | FANCB-related disorder [RCV003942481]|Fanconi anemia [RCV001487463]|Fanconi anemia complementation group B [RCV000766076]|Inborn genetic diseases [RCV004022680]|not specified [RCV001821263] | likely benign|uncertain significance | X | 14845063 | 14845063 | Human | 4 | name , trait , alternate_id |
| 12906074 | CV413813 | single nucleotide variant | NM_001018113.3(FANCB):c.2392G>A (p.Val798Ile) | Fanconi anemia [RCV005090984]|not provided [RCV000488385] | uncertain significance | X | 14843755 | 14843755 | Human | 1 | name |
| 13216741 | CV430667 | single nucleotide variant | NM_001018113.3(FANCB):c.2228T>G (p.Phe743Cys) | Fanconi anemia [RCV001857097]|Inborn genetic diseases [RCV005338205]|not provided [RCV004808737]|not specified [RCV000504138] | likely benign|uncertain significance | X | 14843919 | 14843919 | Human | 2 | name |
| 8569902 | CV45729 | single nucleotide variant | NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter) | Fanconi anemia complementation group B [RCV000030703] | pathogenic | X | 14844518 | 14844518 | Human | 1 | name |
| 13498409 | CV470515 | single nucleotide variant | NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) | Fanconi anemia [RCV001444357]|Fanconi anemia complementation group B [RCV001169618]|VACTERL association, X-linked, with or without hydrocephalus [RCV001169617]|not provided [RCV000528766] | likely benign|uncertain significance | X | 14843820 | 14843820 | Human | 3 | name |
| 13501119 | CV470518 | single nucleotide variant | NM_001018113.3(FANCB):c.1541A>G (p.His514Arg) | Fanconi anemia [RCV000539693] | uncertain significance | X | 14845242 | 14845242 | Human | 1 | name |
| 13465748 | CV470523 | single nucleotide variant | NM_001018113.3(FANCB):c.1079C>T (p.Thr360Met) | Fanconi anemia [RCV000548316] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | X | 14859207 | 14859207 | Human | 1 | name |
| 13501195 | CV471760 | single nucleotide variant | NM_001018113.3(FANCB):c.2098T>C (p.Phe700Leu) | Fanconi anemia [RCV000540004]|not provided [RCV001357784] | uncertain significance | X | 14844570 | 14844570 | Human | 1 | name |
| 13503566 | CV471767 | single nucleotide variant | NM_001018113.3(FANCB):c.1487C>T (p.Ser496Phe) | Fanconi anemia [RCV000550939] | uncertain significance | X | 14850514 | 14850514 | Human | 1 | name |
| 13500173 | CV472071 | single nucleotide variant | NM_001018113.3(FANCB):c.1349G>A (p.Cys450Tyr) | Fanconi anemia [RCV000535909] | likely benign | X | 14850652 | 14850652 | Human | 1 | name |
| 13532027 | CV508345 | single nucleotide variant | NM_001018113.3(FANCB):c.2435A>G (p.Tyr812Cys) | Fanconi anemia [RCV001523706]|not specified [RCV000606668] | benign|likely benign | X | 14843712 | 14843712 | Human | 1 | name |
| 13612790 | CV534559 | single nucleotide variant | NM_001018113.3(FANCB):c.1991C>T (p.Ser664Leu) | Fanconi anemia [RCV000630867]|Fanconi anemia complementation group B [RCV005044921] | uncertain significance | X | 14844677 | 14844677 | Human | 2 | name |
| 13613117 | CV534562 | single nucleotide variant | NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro) | Fanconi anemia [RCV002060714]|Fanconi anemia complementation group B [RCV002492951]|Inborn genetic diseases [RCV002528849] | benign|likely benign | X | 14850608 | 14850608 | Human | 3 | name |
| 13612940 | CV534595 | single nucleotide variant | NM_001018113.3(FANCB):c.1605C>G (p.Phe535Leu) | Fanconi anemia [RCV000630916] | uncertain significance | X | 14845178 | 14845178 | Human | 1 | name |
| 13613197 | CV534596 | single nucleotide variant | NM_001018113.3(FANCB):c.1442G>A (p.Arg481His) | Fanconi anemia [RCV000631032]|Fanconi anemia complementation group B [RCV001167228]|VACTERL association, X-linked, with or without hydrocephalus [RCV001167229] | benign | X | 14850559 | 14850559 | Human | 3 | name |
| 13613050 | CV535058 | single nucleotide variant | NM_001018113.3(FANCB):c.2420A>C (p.Glu807Ala) | Fanconi anemia [RCV000630950]|Inborn genetic diseases [RCV004025394] | uncertain significance | X | 14843727 | 14843727 | Human | 2 | name |
| 13821953 | CV573612 | single nucleotide variant | NM_001018113.3(FANCB):c.1655T>C (p.Val552Ala) | Fanconi anemia [RCV000696608] | uncertain significance | X | 14845128 | 14845128 | Human | 1 | name |
| 13816621 | CV574325 | single nucleotide variant | NM_001018113.3(FANCB):c.2117C>T (p.Thr706Ile) | Fanconi anemia [RCV000706514] | uncertain significance | X | 14844551 | 14844551 | Human | 1 | name |
| 13806531 | CV574327 | single nucleotide variant | NM_001018113.3(FANCB):c.1133A>C (p.Asp378Ala) | Fanconi anemia [RCV000686293] | uncertain significance | X | 14857926 | 14857926 | Human | 1 | name |
| 13819114 | CV575340 | single nucleotide variant | NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) | Fanconi anemia [RCV000694135]|Fanconi anemia complementation group B [RCV001167743]|VACTERL association, X-linked, with or without hydrocephalus [RCV001169616]|not provided [RCV001756194]|not specified [RCV001816713] | benign|likely benign|uncertain significance | X | 14843805 | 14843805 | Human | 3 | name |
| 13822502 | CV575341 | single nucleotide variant | NM_001018113.3(FANCB):c.1331A>T (p.Glu444Val) | Fanconi anemia [RCV000697385] | benign|uncertain significance | X | 14850670 | 14850670 | Human | 1 | name |
| 14721722 | CV649736 | single nucleotide variant | NM_001018113.3(FANCB):c.2267T>C (p.Ile756Thr) | Fanconi anemia [RCV000813601] | uncertain significance | X | 14843880 | 14843880 | Human | 1 | name |
| 14703820 | CV649737 | single nucleotide variant | NM_001018113.3(FANCB):c.2168A>G (p.Asn723Ser) | Fanconi anemia [RCV000807546] | uncertain significance | X | 14843979 | 14843979 | Human | 1 | name |
| 14743476 | CV649738 | single nucleotide variant | NM_001018113.3(FANCB):c.1372C>T (p.His458Tyr) | Fanconi anemia [RCV000823469] | uncertain significance | X | 14850629 | 14850629 | Human | 1 | name |
| 14741141 | CV649739 | single nucleotide variant | NM_001018113.3(FANCB):c.1288G>A (p.Val430Ile) | Fanconi anemia [RCV000805657] | uncertain significance | X | 14853077 | 14853077 | Human | 1 | name |
| 21404462 | CV677966 | single nucleotide variant | NM_001018113.3(FANCB):c.1480A>G (p.Thr494Ala) | Fanconi anemia [RCV003635929]|Malignant tumor of breast [RCV001004842] | uncertain significance | X | 14850521 | 14850521 | Human | 3 | name |
| 14975358 | CV678984 | single nucleotide variant | NM_001018113.3(FANCB):c.2249G>T (p.Gly750Val) | not provided [RCV000851571] | uncertain significance | X | 14843898 | 14843898 | Human | | name |
| 14975353 | CV678989 | single nucleotide variant | NM_001018113.3(FANCB):c.2059G>T (p.Glu687Ter) | Fanconi anemia complementation group B [RCV000851566] | uncertain significance | X | 14844609 | 14844609 | Human | 1 | name |
| 14975352 | CV678990 | single nucleotide variant | NM_001018113.3(FANCB):c.2027T>C (p.Leu676Pro) | Fanconi anemia complementation group B [RCV000851565] | uncertain significance | X | 14844641 | 14844641 | Human | 1 | name |
| 14975348 | CV678993 | single nucleotide variant | NM_001018113.3(FANCB):c.1103C>A (p.Ser368Ter) | Fanconi anemia complementation group B [RCV000851559] | pathogenic | X | 14859183 | 14859183 | Human | 1 | name |
| 15115313 | CV684959 | single nucleotide variant | NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala) | Fanconi anemia [RCV000860710]|Fanconi anemia complementation group B [RCV001169620]|VACTERL association, X-linked, with or without hydrocephalus [RCV001169619] | benign | X | 14844681 | 14844681 | Human | 3 | name |
| 15159789 | CV689360 | single nucleotide variant | NM_001018113.3(FANCB):c.1838G>A (p.Arg613His) | Fanconi anemia [RCV000868889] | likely benign | X | 14844945 | 14844945 | Human | 1 | name |
| 15139345 | CV689361 | single nucleotide variant | NM_001018113.3(FANCB):c.1570C>G (p.Gln524Glu) | Fanconi anemia [RCV000864986]|Inborn genetic diseases [RCV004973052]|not specified [RCV001816965] | likely benign|uncertain significance | X | 14845213 | 14845213 | Human | 2 | name |
| 15159401 | CV689362 | single nucleotide variant | NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu) | FANCB-related disorder [RCV003965726]|Fanconi anemia [RCV000868818]|Fanconi anemia complementation group B [RCV002495286]|Inborn genetic diseases [RCV002409068] | benign|likely benign|uncertain significance | X | 14859219 | 14859219 | Human | 4 | name , trait , alternate_id |
| 15145606 | CV694798 | single nucleotide variant | NM_001018113.3(FANCB):c.1634T>C (p.Ile545Thr) | Fanconi anemia [RCV005092610]|Inborn genetic diseases [RCV004027906] | likely benign | X | 14845149 | 14845149 | Human | 2 | name |
| 15146209 | CV786718 | single nucleotide variant | NM_001018113.3(FANCB):c.1042T>C (p.Ser348Pro) | Fanconi anemia [RCV001471456] | likely benign | X | 14859244 | 14859244 | Human | 1 | name |
| 26915636 | CV849696 | single nucleotide variant | NM_001018113.3(FANCB):c.2107A>T (p.Thr703Ser) | Fanconi anemia [RCV001041473] | uncertain significance | X | 14844561 | 14844561 | Human | 1 | name |
| 26917068 | CV849697 | single nucleotide variant | NM_001018113.3(FANCB):c.1785C>G (p.Cys595Trp) | Fanconi anemia [RCV001042410] | uncertain significance | X | 14844998 | 14844998 | Human | 1 | name |
| 26913895 | CV849698 | single nucleotide variant | NM_001018113.3(FANCB):c.1702C>T (p.His568Tyr) | Fanconi anemia [RCV001054561]|Fanconi anemia complementation group B [RCV005047256] | uncertain significance | X | 14845081 | 14845081 | Human | 2 | name |
| 26919206 | CV849699 | single nucleotide variant | NM_001018113.3(FANCB):c.1664C>T (p.Thr555Ile) | Fanconi anemia [RCV001058720] | uncertain significance | X | 14845119 | 14845119 | Human | 1 | name |
| 28875124 | CV902838 | single nucleotide variant | NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys) | Fanconi anemia complementation group B [RCV001165642]|VACTERL association, X-linked, with or without hydrocephalus [RCV001165641] | uncertain significance | X | 14845131 | 14845131 | Human | 2 | name |
| 38485590 | CV929582 | single nucleotide variant | NM_001018113.3(FANCB):c.2154A>G (p.Ile718Met) | Fanconi anemia [RCV001219942] | uncertain significance | X | 14844514 | 14844514 | Human | 1 | name |
| 38482227 | CV929583 | single nucleotide variant | NM_001018113.3(FANCB):c.1972T>A (p.Ser658Thr) | Fanconi anemia [RCV001218370] | uncertain significance | X | 14844696 | 14844696 | Human | 1 | name |
| 38489986 | CV929584 | single nucleotide variant | NM_001018113.3(FANCB):c.1957G>A (p.Ala653Thr) | Fanconi anemia [RCV001221950] | uncertain significance | X | 14844711 | 14844711 | Human | 1 | name |
| 38491565 | CV929585 | single nucleotide variant | NM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp) | Fanconi anemia [RCV001222930]|Fanconi anemia complementation group B [RCV002484210] | uncertain significance | X | 14845064 | 14845064 | Human | 2 | name |
| 38492796 | CV929586 | single nucleotide variant | NM_001018113.3(FANCB):c.1325A>C (p.Glu442Ala) | Fanconi anemia [RCV001223805] | uncertain significance | X | 14853040 | 14853040 | Human | 1 | name |
| 38479873 | CV939458 | single nucleotide variant | NM_001018113.3(FANCB):c.1606C>T (p.Pro536Ser) | Fanconi anemia [RCV001206161]|Fanconi anemia complementation group B [RCV002491624] | uncertain significance | X | 14845177 | 14845177 | Human | 2 | name |
| 38497386 | CV951630 | single nucleotide variant | NM_001018113.3(FANCB):c.2019G>C (p.Lys673Asn) | Fanconi anemia [RCV001227031] | uncertain significance | X | 14844649 | 14844649 | Human | 1 | name |
| 40814891 | CV971182 | single nucleotide variant | NM_001018113.3(FANCB):c.1458C>G (p.Ser486Arg) | Fanconi anemia [RCV003635955]|Fanconi anemia complementation group B [RCV001262342]|not provided [RCV004697094] | uncertain significance | X | 14850543 | 14850543 | Human | 2 | name |
| 42722832 | CV985389 | single nucleotide variant | NM_001018113.3(FANCB):c.2224T>C (p.Cys742Arg) | Fanconi anemia complementation group B [RCV001292792] | uncertain significance | X | 14843923 | 14843923 | Human | 1 | name |
| 126763183 | CV999627 | single nucleotide variant | NM_001018113.3(FANCB):c.2439A>C (p.Arg813Ser) | Fanconi anemia [RCV001300595] | uncertain significance | X | 14843708 | 14843708 | Human | 1 | name |
| 126762512 | CV999628 | single nucleotide variant | NM_001018113.3(FANCB):c.1858G>A (p.Val620Ile) | Fanconi anemia [RCV001309910] | uncertain significance | X | 14844925 | 14844925 | Human | 1 | name |
| 405068202 | CV2900476 | deletion | NM_001018113.3(FANCB):c.455_458del (p.Phe152fs) | Fanconi anemia [RCV003523631] | pathogenic | X | 14865053 | 14865056 | Human | 1 | name |
| 14975343 | CV678998 | deletion | NM_001018113.3(FANCB):c.755_767del (p.Leu252fs) | Fanconi anemia complementation group B [RCV000851554] | pathogenic | X | 14864744 | 14864756 | Human | 1 | name |
| 156066017 | CV2054390 | microsatellite | NM_001018113.3(FANCB):c.1300GAT[1] (p.Asp435del) | Fanconi anemia [RCV002797255] | uncertain significance | X | 14853060 | 14853062 | Human | | name |
| 405052164 | CV2869754 | microsatellite | NM_001018113.3(FANCB):c.2201TCA[1] (p.Ile735del) | Fanconi anemia [RCV003522235] | uncertain significance | X | 14843941 | 14843943 | Human | | name |
| 405161775 | CV2995083 | duplication | NM_001018113.3(FANCB):c.1159_1162dup (p.Tyr388fs) | Fanconi anemia [RCV003637682] | pathogenic | X | 14857896 | 14857897 | Human | 1 | name |
| 12895208 | CV411142 | microsatellite | NM_001018113.3(FANCB):c.1695_1698del (p.Cys566fs) | not provided [RCV000485610] | pathogenic | X | 14845085 | 14845088 | Human | | name |
| 8569903 | CV45730 | microsatellite | NM_001018113.3(FANCB):c.1857_1858del (p.Arg619fs) | Fanconi anemia complementation group B [RCV000030704] | pathogenic | X | 14844925 | 14844926 | Human | | name |
| 14975349 | CV678982 | deletion | NM_001018113.3(FANCB):c.1497_2580del (p.Ser500fs) | Fanconi anemia complementation group B [RCV000851561] | pathogenic | X | 14843567 | 14845286 | Human | 1 | name |
| 14975359 | CV678983 | deletion | NM_001018113.3(FANCB):c.2249_2252del (p.Gly750fs) | Fanconi anemia complementation group B [RCV000851572] | pathogenic | X | 14843895 | 14843898 | Human | 1 | name |
| 14975357 | CV678985 | deletion | NM_001018113.3(FANCB):c.2172_2175del (p.Thr725fs) | Fanconi anemia complementation group B [RCV000851570] | pathogenic | X | 14843972 | 14843975 | Human | 1 | name |
| 14975350 | CV678992 | microsatellite | NM_001018113.3(FANCB):c.1811_1814del (p.Arg604fs) | Fanconi anemia complementation group B [RCV000851563] | pathogenic | X | 14844969 | 14844972 | Human | | name |
| 14975351 | CV678991 | insertion | NM_001018113.3(FANCB):c.1856_1857insT (p.Arg619fs) | Fanconi anemia complementation group B [RCV000851564] | pathogenic | X | 14844926 | 14844927 | Human | 1 | name |
| 597917790 | CV3861426 | deletion | NM_001018113.3(FANCB):c.1027_1032del (p.Leu343_Leu344del) | Fanconi anemia [RCV005204583] | uncertain significance | X | 14859254 | 14859259 | Human | 1 | name |
| 150556340 | CV1296912 | indel | NM_001018113.3(FANCB):c.2565_2569delinsTTTATAATTCTGT (p.Lys855_Ser857delinsAsnLeuTer) | Fanconi anemia complementation group B [RCV002506771]|not provided [RCV001774202] | uncertain significance | X | 14843578 | 14843582 | Human | | name |