| 8557491 | CV18572 | duplication | FKBP10, 1-BP DUP, 831C | Bruck syndrome 1 [RCV000034358]|Osteogenesis imperfecta type 11 [RCV000003711]|Osteogenesis imperfecta type 12 [RCV000003711] | pathogenic | | | | Human | | name |
| 405272768 | CV3201373 | single nucleotide variant | NM_021939.4(FKBP10):c.*10A>T | FKBP10-related disorder [RCV003901436] | likely benign | 17 | 41822418 | 41822418 | Human | | name , trait , alternate_id |
| 28894893 | CV877480 | single nucleotide variant | NM_021939.3(FKBP10):c.-89G>A | Osteogenesis imperfecta type 11 [RCV001122274] | uncertain significance | 17 | 41812946 | 41812946 | Human | 1 | name |
| 28894896 | CV877481 | single nucleotide variant | NM_021939.3(FKBP10):c.-35C>A | Osteogenesis imperfecta type 11 [RCV001122275] | uncertain significance | 17 | 41813000 | 41813000 | Human | 1 | name |
| 11623541 | CV328422 | single nucleotide variant | NM_021939.3(FKBP10):c.-183C>G | Osteogenesis imperfecta type 11 [RCV000373995] | uncertain significance | 17 | 41812852 | 41812852 | Human | 1 | name |
| 11623599 | CV328428 | single nucleotide variant | NM_021939.4(FKBP10):c.*422C>G | Osteogenesis imperfecta type 11 [RCV000375077]|not provided [RCV004709635] | benign | 17 | 41822830 | 41822830 | Human | 1 | name |
| 11612848 | CV338380 | single nucleotide variant | NM_021939.3(FKBP10):c.-177C>G | Osteogenesis imperfecta type 11 [RCV000263005] | uncertain significance | 17 | 41812858 | 41812858 | Human | 1 | name |
| 11624568 | CV338398 | single nucleotide variant | NM_021939.4(FKBP10):c.*402T>A | Osteogenesis imperfecta type 11 [RCV000387842]|not provided [RCV004709633] | benign | 17 | 41822810 | 41822810 | Human | 1 | name |
| 11616297 | CV338401 | single nucleotide variant | NM_021939.4(FKBP10):c.*421C>G | Osteogenesis imperfecta type 11 [RCV000293466]|not provided [RCV004709634] | benign | 17 | 41822829 | 41822829 | Human | 1 | name |
| 11614833 | CV338404 | single nucleotide variant | NM_021939.4(FKBP10):c.*549G>A | Osteogenesis imperfecta type 11 [RCV000280105]|not provided [RCV004694323] | uncertain significance | 17 | 41822957 | 41822957 | Human | 1 | name |
| 11649217 | CV338407 | single nucleotide variant | NM_021939.4(FKBP10):c.*693G>T | Osteogenesis imperfecta type 11 [RCV000285856] | uncertain significance | 17 | 41823101 | 41823101 | Human | 1 | name |
| 11659769 | CV344439 | single nucleotide variant | NM_021939.3(FKBP10):c.-303G>A | Osteogenesis imperfecta type 11 [RCV000360988] | uncertain significance | 17 | 41812732 | 41812732 | Human | 1 | name |
| 11626226 | CV344440 | single nucleotide variant | NM_021939.3(FKBP10):c.-267G>A | Osteogenesis imperfecta type 11 [RCV000259244]|not provided [RCV001555277] | likely benign|uncertain significance | 17 | 41812768 | 41812768 | Human | 1 | name |
| 11656631 | CV344452 | single nucleotide variant | NM_021939.4(FKBP10):c.*589T>C | Osteogenesis imperfecta type 11 [RCV000335182] | uncertain significance | 17 | 41822997 | 41822997 | Human | 1 | name |
| 11629181 | CV345842 | single nucleotide variant | NM_021939.3(FKBP10):c.-207C>T | Osteogenesis imperfecta type 11 [RCV000317023] | uncertain significance | 17 | 41812828 | 41812828 | Human | 1 | name |
| 14729610 | CV668995 | single nucleotide variant | NM_021939.3(FKBP10):c.-412C>G | not provided [RCV000835301] | likely benign | 17 | 41812623 | 41812623 | Human | | name |
| 28908170 | CV877479 | single nucleotide variant | NM_021939.3(FKBP10):c.-271G>C | Osteogenesis imperfecta type 11 [RCV001128033] | uncertain significance | 17 | 41812764 | 41812764 | Human | 1 | name |
| 28904571 | CV877499 | single nucleotide variant | NM_021939.4(FKBP10):c.*125C>T | Osteogenesis imperfecta type 11 [RCV001126141] | uncertain significance | 17 | 41822533 | 41822533 | Human | 1 | name |
| 28904573 | CV877500 | single nucleotide variant | NM_021939.4(FKBP10):c.*197T>A | Osteogenesis imperfecta type 11 [RCV001126142] | uncertain significance | 17 | 41822605 | 41822605 | Human | 1 | name |
| 28904576 | CV877501 | single nucleotide variant | NM_021939.4(FKBP10):c.*293G>A | Osteogenesis imperfecta type 11 [RCV001126143] | uncertain significance | 17 | 41822701 | 41822701 | Human | 1 | name |
| 28908505 | CV877502 | single nucleotide variant | NM_021939.4(FKBP10):c.*508G>A | Osteogenesis imperfecta type 11 [RCV001128225] | uncertain significance | 17 | 41822916 | 41822916 | Human | 1 | name |
| 28895504 | CV877503 | single nucleotide variant | NM_021939.4(FKBP10):c.*747C>T | Osteogenesis imperfecta type 11 [RCV001122494] | uncertain significance | 17 | 41823155 | 41823155 | Human | 1 | name |
| 28895508 | CV877504 | single nucleotide variant | NM_021939.4(FKBP10):c.*760G>A | Osteogenesis imperfecta type 11 [RCV001122495] | uncertain significance | 17 | 41823168 | 41823168 | Human | 1 | name |
| 127286095 | CV1161766 | single nucleotide variant | NM_021939.4(FKBP10):c.391+4A>T | Osteogenesis imperfecta type 11 [RCV001526492] | likely pathogenic | 17 | 41817207 | 41817207 | Human | 1 | name |
| 150410790 | CV1178158 | duplication | NM_021939.4(FKBP10):c.246-3dup | FKBP10-related disorder [RCV003966170]|not provided [RCV001546828] | benign|likely benign | 17 | 41817047 | 41817048 | Human | 1 | name , trait , alternate_id |
| 151751375 | CV1378196 | single nucleotide variant | NM_021939.4(FKBP10):c.728-1G>A | not provided [RCV002043317] | likely pathogenic | 17 | 41819209 | 41819209 | Human | | name |
| 152098843 | CV1530986 | single nucleotide variant | NM_021939.4(FKBP10):c.246-4C>G | not provided [RCV002132994] | likely benign | 17 | 41817054 | 41817054 | Human | | name |
| 152127824 | CV1554276 | single nucleotide variant | NM_021939.4(FKBP10):c.246-8C>A | not provided [RCV002176398] | likely benign | 17 | 41817050 | 41817050 | Human | | name |
| 153347063 | CV1694396 | single nucleotide variant | NM_021939.4(FKBP10):c.917+5G>A | Osteogenesis imperfecta [RCV002277793]|not provided [RCV003101574] | uncertain significance | 17 | 41819404 | 41819404 | Human | 1 | name |
| 155957828 | CV1903787 | single nucleotide variant | NM_021939.4(FKBP10):c.918-3C>A | Osteogenesis imperfecta [RCV005406590]|not provided [RCV003095681] | pathogenic|likely pathogenic|uncertain significance | 17 | 41819527 | 41819527 | Human | 1 | name |
| 10050844 | CV192531 | single nucleotide variant | NM_021939.4(FKBP10):c.246-5C>G | FKBP10-related disorder [RCV003947491]|Osteogenesis imperfecta [RCV002277369]|Osteogenesis imperfecta type 11 [RCV000329828]|not provided [RCV000175935]|not specified [RCV003330535] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 17 | 41817053 | 41817053 | Human | 2 | name , trait , alternate_id |
| 156437040 | CV1936938 | single nucleotide variant | NM_021939.4(FKBP10):c.917+9G>A | FKBP10-related disorder [RCV003906641]|not provided [RCV003106568] | likely benign | 17 | 41819408 | 41819408 | Human | 1 | name , trait , alternate_id |
| 156448457 | CV1950736 | single nucleotide variant | NM_021939.4(FKBP10):c.245+8C>T | not provided [RCV003120019]|not specified [RCV004526239] | likely benign | 17 | 41813287 | 41813287 | Human | | name |
| 156415401 | CV1958378 | single nucleotide variant | NM_021939.4(FKBP10):c.246-5C>A | not provided [RCV002589147] | likely benign|uncertain significance | 17 | 41817053 | 41817053 | Human | | name |
| 156402858 | CV1988756 | single nucleotide variant | NM_021939.4(FKBP10):c.917+1G>A | not provided [RCV002605786] | likely pathogenic | 17 | 41819400 | 41819400 | Human | | name |
| 156286612 | CV2061911 | single nucleotide variant | NM_021939.4(FKBP10):c.727+6G>T | not provided [RCV002833031] | uncertain significance | 17 | 41818533 | 41818533 | Human | | name |
| 156096252 | CV2139699 | single nucleotide variant | NM_021939.4(FKBP10):c.581+8G>A | not provided [RCV002979803] | likely benign | 17 | 41818286 | 41818286 | Human | | name |
| 405225964 | CV2882233 | single nucleotide variant | NM_021939.4(FKBP10):c.581+9C>T | not provided [RCV003554638] | likely benign | 17 | 41818287 | 41818287 | Human | | name |
| 405131023 | CV2905165 | single nucleotide variant | NM_021939.4(FKBP10):c.918-3C>G | not provided [RCV003560005] | pathogenic | 17 | 41819527 | 41819527 | Human | | name |
| 402475949 | CV2916105 | single nucleotide variant | NM_021939.4(FKBP10):c.391+9G>A | not provided [RCV003571327] | likely benign | 17 | 41817212 | 41817212 | Human | | name |
| 405143119 | CV2945970 | single nucleotide variant | NM_021939.4(FKBP10):c.728-9C>T | not provided [RCV003669444] | likely benign | 17 | 41819201 | 41819201 | Human | | name |
| 405096427 | CV2947386 | single nucleotide variant | NM_021939.4(FKBP10):c.392-8T>C | not provided [RCV003665570] | likely benign | 17 | 41818081 | 41818081 | Human | | name |
| 405148025 | CV2960071 | single nucleotide variant | NM_021939.4(FKBP10):c.392-9C>G | not provided [RCV003669792] | likely benign | 17 | 41818080 | 41818080 | Human | | name |
| 405245141 | CV2972741 | single nucleotide variant | NM_021939.4(FKBP10):c.246-6C>T | not provided [RCV003685016] | likely benign | 17 | 41817052 | 41817052 | Human | | name |
| 405239598 | CV2997084 | single nucleotide variant | NM_021939.4(FKBP10):c.246-4C>T | not provided [RCV003718842] | likely benign | 17 | 41817054 | 41817054 | Human | | name |
| 405240740 | CV3003499 | single nucleotide variant | NM_021939.4(FKBP10):c.246-5C>T | not provided [RCV003719060] | likely benign | 17 | 41817053 | 41817053 | Human | | name |
| 405030271 | CV3015709 | single nucleotide variant | NM_021939.4(FKBP10):c.918-9G>A | not provided [RCV003695426] | likely benign | 17 | 41819521 | 41819521 | Human | | name |
| 405058004 | CV3019585 | single nucleotide variant | NM_021939.4(FKBP10):c.245+9G>A | not provided [RCV003697417] | likely benign | 17 | 41813288 | 41813288 | Human | | name |
| 405008036 | CV3117563 | single nucleotide variant | NM_021939.4(FKBP10):c.246-7C>A | not provided [RCV003828618] | likely benign | 17 | 41817051 | 41817051 | Human | | name |
| 405113568 | CV3133637 | single nucleotide variant | NM_021939.4(FKBP10):c.246-6C>A | not provided [RCV003836430] | likely benign | 17 | 41817052 | 41817052 | Human | | name |
| 405048875 | CV3137840 | single nucleotide variant | NM_021939.4(FKBP10):c.246-4C>A | not provided [RCV003831878] | likely benign | 17 | 41817054 | 41817054 | Human | | name |
| 405172918 | CV3151748 | single nucleotide variant | NM_021939.4(FKBP10):c.246-7C>T | not provided [RCV003857899] | likely benign | 17 | 41817051 | 41817051 | Human | | name |
| 405184851 | CV3156060 | deletion | NM_021939.4(FKBP10):c.727+2del | Bruck syndrome 1 [RCV005015046]|not provided [RCV003859134] | likely pathogenic | 17 | 41818529 | 41818529 | Human | 1 | name |
| 405213395 | CV3169803 | single nucleotide variant | NM_021939.4(FKBP10):c.917+8G>A | not provided [RCV003862402] | likely benign | 17 | 41819407 | 41819407 | Human | | name |
| 405282098 | CV3224690 | single nucleotide variant | NM_021939.4(FKBP10):c.392-3C>G | Osteogenesis imperfecta type 11 [RCV003989025] | uncertain significance | 17 | 41818086 | 41818086 | Human | 1 | name |
| 13521505 | CV495419 | single nucleotide variant | NM_021939.4(FKBP10):c.392-2A>G | not provided [RCV000599505] | pathogenic|likely pathogenic | 17 | 41818087 | 41818087 | Human | | name |
| 14708502 | CV669292 | deletion | NM_021939.4(FKBP10):c.246-3del | not provided [RCV000827385] | benign|likely benign | 17 | 41817048 | 41817048 | Human | | name |
| 15166982 | CV672351 | single nucleotide variant | NM_021939.4(FKBP10):c.918-2A>G | Osteogenesis imperfecta type III [RCV000860009] | likely pathogenic | 17 | 41819528 | 41819528 | Human | 1 | name |
| 15186058 | CV776320 | single nucleotide variant | NM_021939.4(FKBP10):c.245+9G>C | FKBP10-related disorder [RCV003960484]|not provided [RCV000931241] | likely benign | 17 | 41813288 | 41813288 | Human | 1 | name , trait , alternate_id |
| 40816246 | CV858291 | single nucleotide variant | NM_021939.4(FKBP10):c.391+1G>A | Bruck syndrome [RCV001260285]|not provided [RCV003660842] | pathogenic | 17 | 41817204 | 41817204 | Human | 1 | name |
| 40903500 | CV977283 | single nucleotide variant | NM_021939.4(FKBP10):c.918-6T>G | Osteogenesis imperfecta type 11 [RCV001270800] | likely pathogenic | 17 | 41819524 | 41819524 | Human | 1 | name |
| 151879869 | CV1395711 | single nucleotide variant | NM_021939.4(FKBP10):c.1063+4G>A | not provided [RCV001999395] | uncertain significance | 17 | 41819679 | 41819679 | Human | | name |
| 152174845 | CV1520499 | single nucleotide variant | NM_021939.4(FKBP10):c.246-18C>T | not provided [RCV002184652] | likely benign | 17 | 41817040 | 41817040 | Human | | name |
| 152036750 | CV1532040 | single nucleotide variant | NM_021939.4(FKBP10):c.392-18G>A | not provided [RCV002125461] | likely benign | 17 | 41818071 | 41818071 | Human | | name |
| 152050678 | CV1533244 | single nucleotide variant | NM_021939.4(FKBP10):c.918-15C>T | not provided [RCV002166837] | likely benign | 17 | 41819515 | 41819515 | Human | | name |
| 152158554 | CV1564437 | single nucleotide variant | NM_021939.4(FKBP10):c.582-20C>T | not provided [RCV002140527] | likely benign | 17 | 41818362 | 41818362 | Human | | name |
| 152106190 | CV1591629 | single nucleotide variant | NM_021939.4(FKBP10):c.728-15C>T | not provided [RCV002214842] | likely benign | 17 | 41819195 | 41819195 | Human | | name |
| 152039625 | CV1617235 | single nucleotide variant | NM_021939.4(FKBP10):c.1063+9G>A | not provided [RCV002087761] | likely benign | 17 | 41819684 | 41819684 | Human | | name |
| 152169548 | CV1632342 | single nucleotide variant | NM_021939.4(FKBP10):c.392-19C>T | not provided [RCV002142823] | likely benign | 17 | 41818070 | 41818070 | Human | | name |
| 152060235 | CV1650516 | duplication | NM_021939.4(FKBP10):c.1256+8dup | not provided [RCV002128254] | likely benign | 17 | 41820467 | 41820468 | Human | | name |
| 156385544 | CV1874872 | single nucleotide variant | NM_021939.4(FKBP10):c.1400-7C>T | not provided [RCV003050827] | likely benign | 17 | 41821647 | 41821647 | Human | | name |
| 10045122 | CV188883 | single nucleotide variant | NM_021939.4(FKBP10):c.917+53G>T | FKBP10-related disorder [RCV003917583]|Osteogenesis imperfecta type 11 [RCV000989848]|not provided [RCV000171257] | likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance | 17 | 41819452 | 41819452 | Human | 1 | name , trait , alternate_id |
| 156414136 | CV1915743 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+9G>A | not provided [RCV002588432] | likely benign | 17 | 41820470 | 41820470 | Human | | name |
| 155948698 | CV1921789 | single nucleotide variant | NM_021939.4(FKBP10):c.392-10G>A | not provided [RCV002616096] | likely benign | 17 | 41818079 | 41818079 | Human | | name |
| 156311654 | CV1969613 | single nucleotide variant | NM_021939.4(FKBP10):c.391+15G>A | not provided [RCV002578728] | likely benign | 17 | 41817218 | 41817218 | Human | | name |
| 156173333 | CV2016257 | single nucleotide variant | NM_021939.4(FKBP10):c.582-19T>C | not provided [RCV002710549] | likely benign | 17 | 41818363 | 41818363 | Human | | name |
| 156151675 | CV2070347 | single nucleotide variant | NM_021939.4(FKBP10):c.246-18C>A | not provided [RCV002850890] | likely benign | 17 | 41817040 | 41817040 | Human | | name |
| 156375480 | CV2191003 | single nucleotide variant | NM_021939.4(FKBP10):c.246-12C>T | not provided [RCV003050065] | likely benign | 17 | 41817046 | 41817046 | Human | | name |
| 11546281 | CV256171 | single nucleotide variant | NM_021939.4(FKBP10):c.1400-4C>G | Osteogenesis imperfecta [RCV002278216]|Osteogenesis imperfecta type 11 [RCV000272628]|not provided [RCV000421619]|not specified [RCV000246250] | benign|likely benign | 17 | 41821650 | 41821650 | Human | 2 | name |
| 11643060 | CV270449 | single nucleotide variant | NM_021939.4(FKBP10):c.1399+8G>T | not provided [RCV000386178] | conflicting interpretations of pathogenicity|uncertain significance | 17 | 41821097 | 41821097 | Human | | name |
| 11666719 | CV272561 | single nucleotide variant | NM_021939.4(FKBP10):c.1399+2T>G | not provided [RCV000373154] | pathogenic | 17 | 41821091 | 41821091 | Human | | name |
| 405167321 | CV2857712 | single nucleotide variant | NM_021939.4(FKBP10):c.918-18T>C | not provided [RCV003541892] | likely benign | 17 | 41819512 | 41819512 | Human | | name |
| 405177086 | CV2861028 | single nucleotide variant | NM_021939.4(FKBP10):c.917+15G>A | not provided [RCV003542854] | likely benign | 17 | 41819414 | 41819414 | Human | | name |
| 402479830 | CV2863879 | single nucleotide variant | NM_021939.4(FKBP10):c.728-19A>T | not provided [RCV003543900] | likely benign | 17 | 41819191 | 41819191 | Human | | name |
| 402491219 | CV2867154 | single nucleotide variant | NM_021939.4(FKBP10):c.581+20C>G | not provided [RCV003544889] | likely benign | 17 | 41818298 | 41818298 | Human | | name |
| 405075428 | CV2873149 | single nucleotide variant | NM_021939.4(FKBP10):c.246-10C>T | not provided [RCV003548732] | likely benign | 17 | 41817048 | 41817048 | Human | | name |
| 405125326 | CV2889601 | single nucleotide variant | NM_021939.4(FKBP10):c.1399+8G>A | not provided [RCV003559451] | likely benign | 17 | 41821097 | 41821097 | Human | | name |
| 405131035 | CV2905166 | single nucleotide variant | NM_021939.4(FKBP10):c.1399+1G>A | not provided [RCV003560006] | pathogenic | 17 | 41821090 | 41821090 | Human | | name |
| 405172136 | CV2911933 | single nucleotide variant | NM_021939.4(FKBP10):c.582-15C>T | not provided [RCV003563067] | likely benign | 17 | 41818367 | 41818367 | Human | | name |
| 405212462 | CV2917536 | single nucleotide variant | NM_021939.4(FKBP10):c.391+18A>C | not provided [RCV003567336] | likely benign | 17 | 41817221 | 41817221 | Human | | name |
| 405011721 | CV2923340 | single nucleotide variant | NM_021939.4(FKBP10):c.391+11C>T | not provided [RCV003576670] | likely benign | 17 | 41817214 | 41817214 | Human | | name |
| 402470447 | CV2931354 | single nucleotide variant | NM_021939.4(FKBP10):c.918-13C>T | not provided [RCV003570292] | likely benign | 17 | 41819517 | 41819517 | Human | | name |
| 405155328 | CV2950805 | deletion | NM_021939.4(FKBP10):c.917+10del | not provided [RCV003670331] | likely benign | 17 | 41819407 | 41819407 | Human | | name |
| 405168254 | CV2950866 | single nucleotide variant | NM_021939.4(FKBP10):c.917+18G>C | not provided [RCV003675115] | likely benign | 17 | 41819417 | 41819417 | Human | | name |
| 405237892 | CV2969968 | single nucleotide variant | NM_021939.4(FKBP10):c.245+16C>T | not provided [RCV003683361] | likely benign | 17 | 41813295 | 41813295 | Human | | name |
| 405244238 | CV2971768 | single nucleotide variant | NM_021939.4(FKBP10):c.1064-6C>T | not provided [RCV003684700] | likely benign | 17 | 41820263 | 41820263 | Human | | name |
| 405205001 | CV2990516 | single nucleotide variant | NM_021939.4(FKBP10):c.727+14A>G | not provided [RCV003678550] | likely benign | 17 | 41818541 | 41818541 | Human | | name |
| 402515308 | CV2991577 | deletion | NM_021939.4(FKBP10):c.246-11del | not provided [RCV003689803] | likely benign | 17 | 41817047 | 41817047 | Human | | name |
| 402509377 | CV2998313 | single nucleotide variant | NM_021939.4(FKBP10):c.246-15T>C | not provided [RCV003689333] | likely benign | 17 | 41817043 | 41817043 | Human | | name |
| 405025908 | CV2999676 | single nucleotide variant | NM_021939.4(FKBP10):c.1257-9C>T | not provided [RCV003695134] | likely benign | 17 | 41820938 | 41820938 | Human | | name |
| 404986431 | CV3001546 | single nucleotide variant | NM_021939.4(FKBP10):c.917+19T>G | not provided [RCV003691870] | likely benign | 17 | 41819418 | 41819418 | Human | | name |
| 405001134 | CV3005393 | single nucleotide variant | NM_021939.4(FKBP10):c.245+12T>G | not provided [RCV003693128] | likely benign | 17 | 41813291 | 41813291 | Human | | name |
| 405121493 | CV3024497 | single nucleotide variant | NM_021939.4(FKBP10):c.391+17C>T | not provided [RCV003700727] | likely benign | 17 | 41817220 | 41817220 | Human | | name |
| 402509726 | CV3036183 | single nucleotide variant | NM_021939.4(FKBP10):c.581+12G>A | not provided [RCV003715394] | likely benign | 17 | 41818290 | 41818290 | Human | | name |
| 402509318 | CV3042382 | single nucleotide variant | NM_021939.4(FKBP10):c.1563+1G>A | Bruck syndrome 1 [RCV004798056]|not provided [RCV003715539] | pathogenic|likely pathogenic | 17 | 41821818 | 41821818 | Human | 1 | name |
| 405182696 | CV3057683 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+8C>T | not provided [RCV003728948] | likely benign | 17 | 41820469 | 41820469 | Human | | name |
| 405103530 | CV3116281 | single nucleotide variant | NM_021939.4(FKBP10):c.917+12C>T | not provided [RCV003811997] | likely benign | 17 | 41819411 | 41819411 | Human | | name |
| 405205930 | CV3116964 | single nucleotide variant | NM_021939.4(FKBP10):c.582-18C>T | not provided [RCV003822448] | likely benign | 17 | 41818364 | 41818364 | Human | | name |
| 405190042 | CV3121361 | single nucleotide variant | NM_021939.4(FKBP10):c.582-14C>T | not provided [RCV003820817] | likely benign | 17 | 41818368 | 41818368 | Human | | name |
| 405138556 | CV3125469 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+9G>T | not provided [RCV003816576] | likely benign | 17 | 41820470 | 41820470 | Human | | name |
| 405107503 | CV3136248 | single nucleotide variant | NM_021939.4(FKBP10):c.392-11C>T | not provided [RCV003835594] | likely benign | 17 | 41818078 | 41818078 | Human | | name |
| 405080243 | CV3137095 | single nucleotide variant | NM_021939.4(FKBP10):c.246-11T>C | not provided [RCV003833994] | likely benign | 17 | 41817047 | 41817047 | Human | | name |
| 405053916 | CV3138428 | single nucleotide variant | NM_021939.4(FKBP10):c.392-13T>C | not provided [RCV003832272] | likely benign | 17 | 41818076 | 41818076 | Human | | name |
| 405021135 | CV3139213 | single nucleotide variant | NM_021939.4(FKBP10):c.1063+8C>T | not provided [RCV003829855] | likely benign | 17 | 41819683 | 41819683 | Human | | name |
| 405210332 | CV3146182 | duplication | NM_021939.4(FKBP10):c.1256+6dup | not provided [RCV003845713] | likely benign | 17 | 41820466 | 41820467 | Human | | name |
| 405165341 | CV3153266 | single nucleotide variant | NM_021939.4(FKBP10):c.391+10G>A | not provided [RCV003841001] | likely benign | 17 | 41817213 | 41817213 | Human | | name |
| 405223995 | CV3158435 | single nucleotide variant | NM_021939.4(FKBP10):c.582-20C>G | not provided [RCV003863931] | likely benign | 17 | 41818362 | 41818362 | Human | | name |
| 405246382 | CV3162160 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+9G>C | not provided [RCV003868679] | likely benign | 17 | 41820470 | 41820470 | Human | | name |
| 402465939 | CV3177383 | single nucleotide variant | NM_021939.4(FKBP10):c.1564-9C>T | not provided [RCV003873014] | likely benign | 17 | 41822214 | 41822214 | Human | | name |
| 405251577 | CV3181323 | single nucleotide variant | NM_021939.4(FKBP10):c.1257-7C>T | not provided [RCV003870325] | likely benign | 17 | 41820940 | 41820940 | Human | | name |
| 597769705 | CV3709008 | single nucleotide variant | NM_021939.4(FKBP10):c.1400-1G>T | Bruck syndrome 1 [RCV005020223] | likely pathogenic | 17 | 41821653 | 41821653 | Human | 1 | name |
| 597769695 | CV3709010 | single nucleotide variant | NM_021939.4(FKBP10):c.1564-2A>T | Bruck syndrome 1 [RCV005020225] | likely pathogenic | 17 | 41822221 | 41822221 | Human | 1 | name |
| 597964192 | CV3754296 | single nucleotide variant | NM_021939.4(FKBP10):c.245+14G>C | not provided [RCV005082403] | likely benign | 17 | 41813293 | 41813293 | Human | | name |
| 597956789 | CV3754726 | single nucleotide variant | NM_021939.4(FKBP10):c.246-17T>G | not provided [RCV005080576] | likely benign | 17 | 41817041 | 41817041 | Human | | name |
| 597854972 | CV3762618 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+1G>A | Bruck syndrome 1 [RCV005414298]|Osteogenesis imperfecta [RCV005088536] | pathogenic|likely pathogenic | 17 | 41820462 | 41820462 | Human | 2 | name |
| 597872107 | CV3768462 | duplication | NM_021939.4(FKBP10):c.581+22dup | not provided [RCV005122841] | likely benign | 17 | 41818297 | 41818298 | Human | | name |
| 597939355 | CV3775327 | single nucleotide variant | NM_021939.4(FKBP10):c.1564-4C>T | not provided [RCV005118153] | likely benign | 17 | 41822219 | 41822219 | Human | | name |
| 597969277 | CV3821453 | single nucleotide variant | NM_021939.4(FKBP10):c.246-13C>T | not provided [RCV005166095] | likely benign | 17 | 41817045 | 41817045 | Human | | name |
| 597887619 | CV3859357 | single nucleotide variant | NM_021939.4(FKBP10):c.917+10G>C | not provided [RCV005200013] | likely benign | 17 | 41819409 | 41819409 | Human | | name |
| 13516789 | CV488636 | single nucleotide variant | NM_021939.4(FKBP10):c.1063+6G>A | not provided [RCV000595967] | uncertain significance | 17 | 41819681 | 41819681 | Human | | name |
| 13527384 | CV506811 | single nucleotide variant | NM_021939.4(FKBP10):c.245+18C>T | not provided [RCV002066664]|not specified [RCV000599736] | benign | 17 | 41813297 | 41813297 | Human | | name |
| 14741344 | CV667907 | single nucleotide variant | NM_021939.4(FKBP10):c.582-11A>G | not provided [RCV000840743] | likely benign | 17 | 41818371 | 41818371 | Human | | name |
| 15154558 | CV760566 | single nucleotide variant | NM_021939.4(FKBP10):c.1063+7G>A | not provided [RCV000924283] | likely benign | 17 | 41819682 | 41819682 | Human | | name |
| 15134528 | CV776302 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+8C>G | Bruck syndrome 1 [RCV001332421]|FKBP10-related disorder [RCV003978123]|not provided [RCV000942760] | likely benign|uncertain significance | 17 | 41820469 | 41820469 | Human | 2 | name , trait , alternate_id |
| 28902324 | CV880517 | single nucleotide variant | NM_021939.4(FKBP10):c.1400-6C>T | Osteogenesis imperfecta type 11 [RCV001125168]|not provided [RCV003769207] | likely benign|uncertain significance | 17 | 41821648 | 41821648 | Human | 1 | name |
| 127317713 | CV1157965 | deletion | NM_021939.4(FKBP10):c.1256+17del | Osteogenesis imperfecta [RCV002276756]|not provided [RCV001521265] | benign|uncertain significance | 17 | 41820470 | 41820470 | Human | 1 | name |
| 150336248 | CV1172996 | duplication | NM_021939.4(FKBP10):c.728-236dup | not provided [RCV001540908] | benign | 17 | 41818955 | 41818956 | Human | | name |
| 150406656 | CV1178159 | single nucleotide variant | NM_021939.4(FKBP10):c.728-255C>A | not provided [RCV001545320] | likely benign | 17 | 41818955 | 41818955 | Human | | name |
| 150427879 | CV1188535 | single nucleotide variant | NM_021939.4(FKBP10):c.1399+84A>C | not provided [RCV001561510] | likely benign | 17 | 41821173 | 41821173 | Human | | name |
| 150420988 | CV1195197 | duplication | NM_021939.4(FKBP10):c.392-138dup | not provided [RCV001570356] | likely benign | 17 | 41817939 | 41817940 | Human | | name |
| 150491015 | CV1239211 | single nucleotide variant | NM_021939.4(FKBP10):c.728-159T>C | not provided [RCV001654779] | benign | 17 | 41819051 | 41819051 | Human | | name |
| 151786701 | CV1478944 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+14G>T | not provided [RCV002046684] | likely benign|uncertain significance | 17 | 41820475 | 41820475 | Human | | name |
| 152038054 | CV1525021 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+17G>A | not provided [RCV002165270] | likely benign | 17 | 41820478 | 41820478 | Human | | name |
| 152077873 | CV1561017 | duplication | NM_021939.4(FKBP10):c.1399+10dup | not provided [RCV002112352] | likely benign | 17 | 41821098 | 41821099 | Human | | name |
| 152086937 | CV1571512 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+19C>T | not provided [RCV002131544] | likely benign | 17 | 41820480 | 41820480 | Human | | name |
| 152174975 | CV1572813 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+16G>T | not provided [RCV002144623] | likely benign | 17 | 41820477 | 41820477 | Human | | name |
| 152084349 | CV1577022 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+16G>A | not provided [RCV002193432] | likely benign | 17 | 41820477 | 41820477 | Human | | name |
| 152100119 | CV1595692 | single nucleotide variant | NM_021939.4(FKBP10):c.1064-15C>T | not provided [RCV002213892] | likely benign | 17 | 41820254 | 41820254 | Human | | name |
| 152072271 | CV1609360 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+20G>A | not provided [RCV002129762]|not specified [RCV004587306] | benign|likely benign | 17 | 41820481 | 41820481 | Human | | name |
| 152088123 | CV1626092 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+13G>C | not provided [RCV002131705] | likely benign | 17 | 41820474 | 41820474 | Human | | name |
| 152107457 | CV1657316 | single nucleotide variant | NM_021939.4(FKBP10):c.1563+14C>G | not provided [RCV002215010] | likely benign | 17 | 41821831 | 41821831 | Human | | name |
| 156385668 | CV1961217 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+13G>T | not provided [RCV002583464] | likely benign | 17 | 41820474 | 41820474 | Human | | name |
| 156068153 | CV1975529 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+12G>C | not provided [RCV002591192] | likely benign | 17 | 41820473 | 41820473 | Human | | name |
| 156167848 | CV2019821 | single nucleotide variant | NM_021939.4(FKBP10):c.1399+11G>A | not provided [RCV002710392] | likely benign | 17 | 41821100 | 41821100 | Human | | name |
| 405047958 | CV2886654 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+18C>T | not provided [RCV003579585] | likely benign | 17 | 41820479 | 41820479 | Human | | name |
| 405172430 | CV2897522 | single nucleotide variant | NM_021939.4(FKBP10):c.1064-15C>G | not provided [RCV003563161] | likely benign | 17 | 41820254 | 41820254 | Human | | name |
| 405014521 | CV2930450 | single nucleotide variant | NM_021939.4(FKBP10):c.1064-19T>A | not provided [RCV003577024] | likely benign | 17 | 41820250 | 41820250 | Human | | name |
| 405079583 | CV2945486 | single nucleotide variant | NM_021939.4(FKBP10):c.1064-14C>T | not provided [RCV003664489] | likely benign | 17 | 41820255 | 41820255 | Human | | name |
| 405237039 | CV2973482 | single nucleotide variant | NM_021939.4(FKBP10):c.1399+17A>G | not provided [RCV003683185] | likely benign | 17 | 41821106 | 41821106 | Human | | name |
| 405230851 | CV2988200 | single nucleotide variant | NM_021939.4(FKBP10):c.1564-10C>T | not provided [RCV003711495] | likely benign | 17 | 41822213 | 41822213 | Human | | name |
| 405074339 | CV3034546 | deletion | NM_021939.4(FKBP10):c.1564-17del | not provided [RCV003698435] | likely benign | 17 | 41822205 | 41822205 | Human | | name |
| 405254679 | CV3055285 | single nucleotide variant | NM_021939.4(FKBP10):c.1257-10T>C | not provided [RCV003722979] | likely benign | 17 | 41820937 | 41820937 | Human | | name |
| 404984010 | CV3121670 | single nucleotide variant | NM_021939.4(FKBP10):c.1564-19C>T | not provided [RCV003826469] | likely benign | 17 | 41822204 | 41822204 | Human | | name |
| 405206581 | CV3126709 | single nucleotide variant | NM_021939.4(FKBP10):c.1064-18C>A | not provided [RCV003822643] | likely benign | 17 | 41820251 | 41820251 | Human | | name |
| 405032331 | CV3130309 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+12G>A | not provided [RCV003830716] | likely benign | 17 | 41820473 | 41820473 | Human | | name |
| 405111088 | CV3133144 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+18C>G | not provided [RCV003836130] | likely benign | 17 | 41820479 | 41820479 | Human | | name |
| 405038549 | CV3140919 | single nucleotide variant | NM_021939.4(FKBP10):c.1064-20C>T | not provided [RCV003831212] | likely benign | 17 | 41820249 | 41820249 | Human | | name |
| 405230946 | CV3157305 | single nucleotide variant | NM_021939.4(FKBP10):c.1063+20A>T | not provided [RCV003865255] | likely benign | 17 | 41819695 | 41819695 | Human | | name |
| 405182371 | CV3159617 | single nucleotide variant | NM_021939.4(FKBP10):c.1563+17T>C | not provided [RCV003858868] | likely benign | 17 | 41821834 | 41821834 | Human | | name |
| 405149699 | CV3162807 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+13G>A | not provided [RCV003856250] | likely benign | 17 | 41820474 | 41820474 | Human | | name |
| 402500380 | CV3170446 | single nucleotide variant | NM_021939.4(FKBP10):c.1399+17A>T | not provided [RCV003877818] | likely benign | 17 | 41821106 | 41821106 | Human | | name |
| 11625525 | CV338382 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+14G>C | Bruck syndrome 1 [RCV002502251]|Osteogenesis imperfecta type 11 [RCV000400086]|not provided [RCV000832551] | benign|likely benign | 17 | 41820475 | 41820475 | Human | 2 | name |
| 11622551 | CV338383 | duplication | NM_021939.4(FKBP10):c.1256+17dup | Bruck syndrome 1 [RCV002495018]|Osteogenesis Imperfecta, Recessive [RCV000361469]|Osteogenesis imperfecta [RCV002278490]|not provided [RCV001675816]|not specified [RCV000615629] | benign|likely benign|no classifications from unflagged records | 17 | 41820469 | 41820470 | Human | 2 | name |
| 597960321 | CV3756180 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+15G>T | not provided [RCV005081497] | likely benign | 17 | 41820476 | 41820476 | Human | | name |
| 597916945 | CV3767768 | single nucleotide variant | NM_021939.4(FKBP10):c.1399+10T>C | not provided [RCV005114569] | likely benign | 17 | 41821099 | 41821099 | Human | | name |
| 14713492 | CV667906 | single nucleotide variant | NM_021939.4(FKBP10):c.391+181T>C | not provided [RCV000828733] | benign | 17 | 41817384 | 41817384 | Human | | name |
| 14727198 | CV667913 | single nucleotide variant | NM_021939.4(FKBP10):c.1063+97G>A | not provided [RCV000834206] | benign | 17 | 41819772 | 41819772 | Human | | name |
| 14744568 | CV668833 | single nucleotide variant | NM_021939.4(FKBP10):c.728-298C>T | not provided [RCV000842843] | benign | 17 | 41818912 | 41818912 | Human | | name |
| 14719290 | CV668836 | single nucleotide variant | NM_021939.4(FKBP10):c.728-276T>C | not provided [RCV000830709] | benign | 17 | 41818934 | 41818934 | Human | | name |
| 14727201 | CV668998 | single nucleotide variant | NM_021939.4(FKBP10):c.1400-44C>T | not provided [RCV000834207] | benign | 17 | 41821610 | 41821610 | Human | | name |
| 14744565 | CV669283 | single nucleotide variant | NM_021939.4(FKBP10):c.246-245A>G | not provided [RCV000842841] | benign | 17 | 41816813 | 41816813 | Human | | name |
| 15040576 | CV682343 | deletion | NM_021939.4(FKBP10):c.1399+51del | Osteogenesis imperfecta type 11 [RCV000855751]|not provided [RCV001712793] | benign|likely benign | 17 | 41821112 | 41821112 | Human | 1 | name |
| 28908344 | CV880515 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+11G>A | Osteogenesis imperfecta type 11 [RCV001128131]|not provided [RCV002556801] | likely benign|uncertain significance | 17 | 41820472 | 41820472 | Human | 1 | name |
| 28908345 | CV880516 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+11G>T | Osteogenesis imperfecta type 11 [RCV001128132]|not provided [RCV002558258] | likely benign|uncertain significance | 17 | 41820472 | 41820472 | Human | 1 | name |
| 41405449 | CV982085 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+11G>C | not provided [RCV001813001]|not specified [RCV005408802] | likely benign | 17 | 41820472 | 41820472 | Human | | name |
| 150337557 | CV1172997 | single nucleotide variant | NM_021939.4(FKBP10):c.1064-250G>A | not provided [RCV001541725] | benign | 17 | 41820019 | 41820019 | Human | | name |
| 150468581 | CV1218934 | single nucleotide variant | NM_021939.4(FKBP10):c.1257-130G>A | not provided [RCV001614686] | benign | 17 | 41820817 | 41820817 | Human | | name |
| 11656408 | CV328424 | microsatellite | NM_021939.4(FKBP10):c.*363CTTT[1] | Osteogenesis Imperfecta, Recessive [RCV000333167] | uncertain significance | 17 | 41822770 | 41822773 | Human | | name |
| 14714700 | CV667919 | single nucleotide variant | NM_021939.4(FKBP10):c.1256+164G>A | not provided [RCV000829124] | benign | 17 | 41820625 | 41820625 | Human | | name |
| 14744590 | CV668842 | single nucleotide variant | NM_021939.4(FKBP10):c.1400-172A>G | not provided [RCV000842855] | benign | 17 | 41821482 | 41821482 | Human | | name |
| 11629642 | CV345864 | inversion | NM_021939.4(FKBP10):c.*421_*422inv | Osteogenesis Imperfecta, Recessive [RCV000329867] | uncertain significance | 17 | 41822829 | 41822830 | Human | | name |
| 11664417 | CV345866 | deletion | NM_021939.4(FKBP10):c.*610_*612del | Osteogenesis Imperfecta, Recessive [RCV000405286] | benign | 17 | 41823016 | 41823018 | Human | 1 | name |
| 150427673 | CV1188534 | single nucleotide variant | NM_021939.4(FKBP10):c.15C>A (p.Gly5=) | not provided [RCV001561244] | likely benign | 17 | 41813049 | 41813049 | Human | | name |
| 156040299 | CV2089609 | deletion | NM_021939.4(FKBP10):c.9del (p.Ala4fs) | not provided [RCV002867415] | pathogenic | 17 | 41813040 | 41813040 | Human | | name |
| 11640136 | CV270858 | single nucleotide variant | NM_021939.4(FKBP10):c.21C>T (p.Pro7=) | Osteogenesis imperfecta type 11 [RCV000844865]|not provided [RCV000333394] | benign|conflicting interpretations of pathogenicity|uncertain significance | 17 | 41813055 | 41813055 | Human | 1 | name |
| 402485372 | CV3002215 | single nucleotide variant | NM_021939.4(FKBP10):c.21C>A (p.Pro7=) | not provided [RCV003687001] | likely benign | 17 | 41813055 | 41813055 | Human | | name |
| 405038252 | CV3013455 | single nucleotide variant | NM_021939.4(FKBP10):c.18C>T (p.Pro6=) | not provided [RCV003696121] | likely benign | 17 | 41813052 | 41813052 | Human | | name |
| 405156001 | CV3028147 | single nucleotide variant | NM_021939.4(FKBP10):c.21C>G (p.Pro7=) | not provided [RCV003703621] | likely benign | 17 | 41813055 | 41813055 | Human | | name |
| 405164660 | CV3059455 | single nucleotide variant | NM_021939.4(FKBP10):c.15C>T (p.Gly5=) | not provided [RCV003727346] | likely benign | 17 | 41813049 | 41813049 | Human | | name |
| 151352598 | CV1321671 | single nucleotide variant | NM_021939.4(FKBP10):c.81G>A (p.Val27=) | not provided [RCV001812555] | likely benign | 17 | 41813115 | 41813115 | Human | | name |
| 151873225 | CV1359499 | single nucleotide variant | NM_021939.4(FKBP10):c.4T>A (p.Phe2Ile) | not provided [RCV002019211] | uncertain significance | 17 | 41813038 | 41813038 | Human | | name |
| 151785839 | CV1477757 | duplication | NM_021939.4(FKBP10):c.21dup (p.Ser8fs) | Osteogenesis imperfecta type 11 [RCV004771514]|not provided [RCV001972530] | pathogenic|likely pathogenic | 17 | 41813048 | 41813049 | Human | 1 | name |
| 152127438 | CV1572085 | single nucleotide variant | NM_021939.4(FKBP10):c.42C>T (p.Leu14=) | not provided [RCV002217603] | likely benign | 17 | 41813076 | 41813076 | Human | | name |
| 152116373 | CV1643138 | single nucleotide variant | NM_021939.4(FKBP10):c.48G>A (p.Leu16=) | FKBP10-related disorder [RCV003950947]|not provided [RCV002216188] | likely benign | 17 | 41813082 | 41813082 | Human | 1 | name , trait , alternate_id |
| 156086444 | CV2170600 | single nucleotide variant | NM_021939.4(FKBP10):c.87G>A (p.Arg29=) | not provided [RCV003038063] | likely benign | 17 | 41813121 | 41813121 | Human | | name |
| 156141462 | CV2177915 | single nucleotide variant | NM_021939.4(FKBP10):c.42C>A (p.Leu14=) | not provided [RCV003040051] | likely benign | 17 | 41813076 | 41813076 | Human | | name |
| 405079500 | CV2945476 | single nucleotide variant | NM_021939.4(FKBP10):c.78C>T (p.Ala26=) | not provided [RCV003664483] | likely benign | 17 | 41813112 | 41813112 | Human | | name |
| 405212742 | CV2971156 | duplication | NM_021939.4(FKBP10):c.14dup (p.Ser8fs) | not provided [RCV003679622] | pathogenic | 17 | 41813045 | 41813046 | Human | | name |
| 405195149 | CV2975264 | single nucleotide variant | NM_021939.4(FKBP10):c.93G>A (p.Leu31=) | not provided [RCV003677512] | likely benign | 17 | 41813127 | 41813127 | Human | | name |
| 405118811 | CV3030549 | deletion | NM_021939.4(FKBP10):c.917+16_917+17del | not provided [RCV003700531] | likely benign | 17 | 41819414 | 41819415 | Human | | name |
| 405210927 | CV3059071 | single nucleotide variant | NM_021939.4(FKBP10):c.61C>T (p.Leu21=) | not provided [RCV003731996] | likely benign | 17 | 41813095 | 41813095 | Human | | name |
| 405205651 | CV3068267 | single nucleotide variant | NM_021939.4(FKBP10):c.30C>T (p.Ser10=) | not provided [RCV003731298] | likely benign | 17 | 41813064 | 41813064 | Human | | name |
| 405135788 | CV3160278 | single nucleotide variant | NM_021939.4(FKBP10):c.45C>G (p.Pro15=) | not provided [RCV003855093] | likely benign | 17 | 41813079 | 41813079 | Human | | name |
| 405251561 | CV3181309 | single nucleotide variant | NM_021939.4(FKBP10):c.90G>T (p.Gly30=) | not provided [RCV003870311] | likely benign | 17 | 41813124 | 41813124 | Human | | name |
| 14746703 | CV671989 | single nucleotide variant | NM_021939.4(FKBP10):c.99C>A (p.Arg33=) | Osteogenesis imperfecta type 11 [RCV000844866] | benign | 17 | 41813133 | 41813133 | Human | 1 | name |
| 150407881 | CV1191955 | deletion | NM_021939.4(FKBP10):c.246-113_246-91del | not provided [RCV001565140] | likely benign | 17 | 41816945 | 41816967 | Human | | name |
| 151862301 | CV1420176 | single nucleotide variant | NM_021939.4(FKBP10):c.285G>A (p.Val95=) | not provided [RCV001980277] | likely benign|uncertain significance | 17 | 41817097 | 41817097 | Human | | name |
| 152081310 | CV1554646 | single nucleotide variant | NM_021939.4(FKBP10):c.186G>A (p.Gly62=) | not provided [RCV002193053] | likely benign | 17 | 41813220 | 41813220 | Human | | name |
| 152115448 | CV1637186 | single nucleotide variant | NM_021939.4(FKBP10):c.237T>C (p.Phe79=) | not provided [RCV002216068] | likely benign | 17 | 41813271 | 41813271 | Human | | name |
| 156322918 | CV1976293 | single nucleotide variant | NM_021939.4(FKBP10):c.16C>G (p.Pro6Ala) | not provided [RCV002600348] | uncertain significance | 17 | 41813050 | 41813050 | Human | | name |
| 405048151 | CV2886692 | single nucleotide variant | NM_021939.4(FKBP10):c.180G>A (p.Gln60=) | not provided [RCV003579598] | likely benign | 17 | 41813214 | 41813214 | Human | | name |
| 405148519 | CV2891797 | single nucleotide variant | NM_021939.4(FKBP10):c.210C>T (p.Asn70=) | not provided [RCV003561553] | likely benign | 17 | 41813244 | 41813244 | Human | | name |
| 405221148 | CV2912684 | single nucleotide variant | NM_021939.4(FKBP10):c.261C>G (p.Thr87=) | not provided [RCV003568377] | likely benign | 17 | 41817073 | 41817073 | Human | | name |
| 402504865 | CV2947524 | single nucleotide variant | NM_021939.4(FKBP10):c.249T>C (p.Tyr83=) | not provided [RCV003661963] | likely benign | 17 | 41817061 | 41817061 | Human | | name |
| 405239924 | CV2989933 | single nucleotide variant | NM_021939.4(FKBP10):c.207C>T (p.Tyr69=) | not provided [RCV003683841] | likely benign | 17 | 41813241 | 41813241 | Human | | name |
| 402514829 | CV2995817 | single nucleotide variant | NM_021939.4(FKBP10):c.186G>T (p.Gly62=) | not provided [RCV003689848] | likely benign | 17 | 41813220 | 41813220 | Human | | name |
| 405224274 | CV3035932 | single nucleotide variant | NM_021939.4(FKBP10):c.138C>A (p.Ile46=) | not provided [RCV003710424] | likely benign | 17 | 41813172 | 41813172 | Human | | name |
| 405243551 | CV3071914 | single nucleotide variant | NM_021939.4(FKBP10):c.279G>A (p.Val93=) | not provided [RCV003737826] | likely benign | 17 | 41817091 | 41817091 | Human | | name |
| 405018238 | CV3135327 | single nucleotide variant | NM_021939.4(FKBP10):c.150C>T (p.His50=) | not provided [RCV003829598] | likely benign | 17 | 41813184 | 41813184 | Human | | name |
| 405187185 | CV3156492 | single nucleotide variant | NM_021939.4(FKBP10):c.168C>G (p.Pro56=) | not provided [RCV003859370] | likely benign | 17 | 41813202 | 41813202 | Human | | name |
| 597956171 | CV3787291 | single nucleotide variant | NM_021939.4(FKBP10):c.162C>T (p.Ala54=) | not provided [RCV005122176] | likely benign | 17 | 41813196 | 41813196 | Human | | name |
| 597904758 | CV3793345 | single nucleotide variant | NM_021939.4(FKBP10):c.117C>T (p.Gly39=) | not provided [RCV005153313] | likely benign | 17 | 41813151 | 41813151 | Human | | name |
| 13521981 | CV493860 | single nucleotide variant | NM_021939.4(FKBP10):c.174A>G (p.Glu58=) | not provided [RCV000591155]|not specified [RCV004782467] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 17 | 41813208 | 41813208 | Human | | name |
| 150467739 | CV1240928 | deletion | NM_021939.4(FKBP10):c.1399+49_1399+51del | not provided [RCV001650386] | benign | 17 | 41821112 | 41821114 | Human | | name |
| 150443987 | CV1264668 | deletion | NM_021939.4(FKBP10):c.1399+48_1399+51del | not provided [RCV001679652] | benign | 17 | 41821112 | 41821115 | Human | | name |
| 150478791 | CV1273357 | duplication | NM_021939.4(FKBP10):c.728-237_728-236dup | not provided [RCV001696560] | benign | 17 | 41818955 | 41818956 | Human | | name |
| 150488726 | CV1284084 | deletion | NM_021939.4(FKBP10):c.1399+50_1399+51del | not provided [RCV001716151] | benign | 17 | 41821112 | 41821113 | Human | | name |
| 151726398 | CV1339690 | single nucleotide variant | NM_021939.4(FKBP10):c.507C>T (p.Arg169=) | not provided [RCV002004311] | likely benign|uncertain significance | 17 | 41818204 | 41818204 | Human | | name |
| 151724442 | CV1369828 | single nucleotide variant | NM_021939.4(FKBP10):c.83G>A (p.Gly28Glu) | Inborn genetic diseases [RCV004616870]|not provided [RCV001945341] | uncertain significance | 17 | 41813117 | 41813117 | Human | 1 | name |
| 151788569 | CV1376996 | single nucleotide variant | NM_021939.4(FKBP10):c.831C>A (p.Pro277=) | not provided [RCV001897952] | likely benign|uncertain significance | 17 | 41819313 | 41819313 | Human | | name |
| 151884743 | CV1452743 | single nucleotide variant | NM_021939.4(FKBP10):c.86G>A (p.Arg29Lys) | not provided [RCV002037615] | uncertain significance | 17 | 41813120 | 41813120 | Human | | name |
| 152061370 | CV1558368 | single nucleotide variant | NM_021939.4(FKBP10):c.651G>A (p.Gly217=) | not provided [RCV002128380] | likely benign | 17 | 41818451 | 41818451 | Human | | name |
| 152083759 | CV1576883 | single nucleotide variant | NM_021939.4(FKBP10):c.879C>T (p.Tyr293=) | not provided [RCV002193361] | likely benign | 17 | 41819361 | 41819361 | Human | | name |
| 152150864 | CV1595371 | single nucleotide variant | NM_021939.4(FKBP10):c.972C>T (p.Pro324=) | not provided [RCV002201944] | likely benign | 17 | 41819584 | 41819584 | Human | | name |
| 152143820 | CV1596818 | single nucleotide variant | NM_021939.4(FKBP10):c.897C>T (p.Asp299=) | not provided [RCV002157119] | likely benign | 17 | 41819379 | 41819379 | Human | | name |
| 152175453 | CV1614292 | single nucleotide variant | NM_021939.4(FKBP10):c.831C>T (p.Pro277=) | not provided [RCV002163588] | likely benign | 17 | 41819313 | 41819313 | Human | | name |
| 152079953 | CV1620636 | single nucleotide variant | NM_021939.4(FKBP10):c.426C>T (p.Phe142=) | not provided [RCV002112611] | benign|likely benign | 17 | 41818123 | 41818123 | Human | | name |
| 152088024 | CV1628655 | single nucleotide variant | NM_021939.4(FKBP10):c.831C>G (p.Pro277=) | not provided [RCV002171457] | likely benign | 17 | 41819313 | 41819313 | Human | | name |
| 152152567 | CV1631097 | single nucleotide variant | NM_021939.4(FKBP10):c.481T>C (p.Leu161=) | not provided [RCV002139744] | likely benign | 17 | 41818178 | 41818178 | Human | | name |
| 152120431 | CV1662009 | deletion | NM_021939.4(FKBP10):c.1256+16_1256+17del | not provided [RCV002117783] | benign | 17 | 41820470 | 41820471 | Human | | name |
| 153347061 | CV1694395 | single nucleotide variant | NM_021939.4(FKBP10):c.915C>T (p.Ser305=) | Osteogenesis imperfecta [RCV002277792]|not provided [RCV003774895] | likely benign|uncertain significance | 17 | 41819397 | 41819397 | Human | 1 | name |
| 10051605 | CV193669 | single nucleotide variant | NM_021939.4(FKBP10):c.504C>T (p.Pro168=) | Osteogenesis imperfecta type 11 [RCV001125053]|not provided [RCV000757297]|not specified [RCV000177327] | benign|likely benign | 17 | 41818201 | 41818201 | Human | 1 | name |
| 156436822 | CV1936690 | single nucleotide variant | NM_021939.4(FKBP10):c.576C>T (p.Asp192=) | not provided [RCV003106346] | likely benign | 17 | 41818273 | 41818273 | Human | | name |
| 156397227 | CV1980698 | single nucleotide variant | NM_021939.4(FKBP10):c.603T>C (p.Tyr201=) | not provided [RCV002605245] | likely benign | 17 | 41818403 | 41818403 | Human | | name |
| 156404478 | CV1993346 | single nucleotide variant | NM_021939.4(FKBP10):c.612C>T (p.Tyr204=) | not provided [RCV002658062] | likely benign | 17 | 41818412 | 41818412 | Human | | name |
| 156317003 | CV2028120 | single nucleotide variant | NM_021939.4(FKBP10):c.528T>C (p.Phe176=) | not provided [RCV002716858] | likely benign | 17 | 41818225 | 41818225 | Human | | name |
| 156022359 | CV2082919 | single nucleotide variant | NM_021939.4(FKBP10):c.927C>A (p.Arg309=) | not provided [RCV002885017] | likely benign | 17 | 41819539 | 41819539 | Human | | name |
| 156125880 | CV2104120 | single nucleotide variant | NM_021939.4(FKBP10):c.609C>A (p.Thr203=) | not provided [RCV002914356] | likely benign | 17 | 41818409 | 41818409 | Human | | name |
| 156257021 | CV2113459 | single nucleotide variant | NM_021939.4(FKBP10):c.549C>T (p.Gly183=) | not provided [RCV002933746]|not specified [RCV005239551] | likely benign | 17 | 41818246 | 41818246 | Human | | name |
| 156005904 | CV2127392 | single nucleotide variant | NM_021939.4(FKBP10):c.465C>G (p.Thr155=) | not provided [RCV002948018] | likely benign | 17 | 41818162 | 41818162 | Human | | name |
| 10449685 | CV215535 | single nucleotide variant | NM_021939.4(FKBP10):c.44C>G (p.Pro15Arg) | Inborn genetic diseases [RCV004020499]|not provided [RCV000923617]|not specified [RCV000202739] | likely benign|uncertain significance | 17 | 41813078 | 41813078 | Human | 1 | name |
| 155979535 | CV2157169 | single nucleotide variant | NM_021939.4(FKBP10):c.366C>T (p.His122=) | not provided [RCV003016309] | likely benign | 17 | 41817178 | 41817178 | Human | | name |
| 156194326 | CV2175414 | single nucleotide variant | NM_021939.4(FKBP10):c.417C>T (p.Thr139=) | not provided [RCV003057941] | likely benign | 17 | 41818114 | 41818114 | Human | | name |
| 156227603 | CV2222848 | single nucleotide variant | NM_021939.4(FKBP10):c.34C>T (p.Leu12Phe) | Inborn genetic diseases [RCV002767447] | uncertain significance | 17 | 41813068 | 41813068 | Human | 1 | name |
| 11644060 | CV266887 | single nucleotide variant | NM_021939.4(FKBP10):c.315C>T (p.Gly105=) | not provided [RCV000405705] | conflicting interpretations of pathogenicity|uncertain significance | 17 | 41817127 | 41817127 | Human | | name |
| 402490469 | CV2867166 | single nucleotide variant | NM_021939.4(FKBP10):c.513C>A (p.Val171=) | not provided [RCV003544894] | likely benign | 17 | 41818210 | 41818210 | Human | | name |
| 405196199 | CV2868892 | single nucleotide variant | NM_021939.4(FKBP10):c.687T>A (p.Ile229=) | not provided [RCV003550857] | likely benign | 17 | 41818487 | 41818487 | Human | | name |
| 405213335 | CV2878840 | single nucleotide variant | NM_021939.4(FKBP10):c.600T>G (p.Thr200=) | not provided [RCV003552873] | likely benign | 17 | 41818400 | 41818400 | Human | | name |
| 405238197 | CV2881329 | single nucleotide variant | NM_021939.4(FKBP10):c.849C>T (p.Ala283=) | not provided [RCV003556771] | likely benign | 17 | 41819331 | 41819331 | Human | | name |
| 405225225 | CV2881955 | single nucleotide variant | NM_021939.4(FKBP10):c.825C>T (p.Leu275=) | not provided [RCV003554540] | likely benign | 17 | 41819307 | 41819307 | Human | | name |
| 405225374 | CV2882015 | single nucleotide variant | NM_021939.4(FKBP10):c.765C>T (p.His255=) | FKBP10-related disorder [RCV003909029]|not provided [RCV003554564] | likely benign | 17 | 41819247 | 41819247 | Human | 1 | name , trait , alternate_id |
| 405153450 | CV2894064 | single nucleotide variant | NM_021939.4(FKBP10):c.420C>T (p.Leu140=) | not provided [RCV003561886] | likely benign | 17 | 41818117 | 41818117 | Human | | name |
| 402497887 | CV2906140 | single nucleotide variant | NM_021939.4(FKBP10):c.808C>T (p.Leu270=) | not provided [RCV003573689] | likely benign | 17 | 41819290 | 41819290 | Human | | name |
| 405136373 | CV2906924 | single nucleotide variant | NM_021939.4(FKBP10):c.987G>A (p.Gly329=) | not provided [RCV003560444] | likely benign | 17 | 41819599 | 41819599 | Human | | name |
| 402478293 | CV2909888 | single nucleotide variant | NM_021939.4(FKBP10):c.372C>T (p.Gly124=) | not provided [RCV003571785] | likely benign | 17 | 41817184 | 41817184 | Human | | name |
| 405209645 | CV2910000 | single nucleotide variant | NM_021939.4(FKBP10):c.741C>T (p.Pro247=) | not provided [RCV003566879] | likely benign | 17 | 41819223 | 41819223 | Human | | name |
| 402472349 | CV2912271 | single nucleotide variant | NM_021939.4(FKBP10):c.513C>T (p.Val171=) | not provided [RCV003570777] | likely benign | 17 | 41818210 | 41818210 | Human | | name |
| 405176244 | CV2915716 | single nucleotide variant | NM_021939.4(FKBP10):c.988C>T (p.Leu330=) | not provided [RCV003563562] | likely benign | 17 | 41819600 | 41819600 | Human | | name |
| 402511949 | CV2948398 | single nucleotide variant | NM_021939.4(FKBP10):c.711T>C (p.Tyr237=) | not provided [RCV003662640] | likely benign | 17 | 41818511 | 41818511 | Human | | name |
| 405168434 | CV2951035 | single nucleotide variant | NM_021939.4(FKBP10):c.678A>G (p.Arg226=) | not provided [RCV003675220] | likely benign | 17 | 41818478 | 41818478 | Human | | name |
| 405227893 | CV2963705 | single nucleotide variant | NM_021939.4(FKBP10):c.399C>T (p.Leu133=) | not provided [RCV003681744] | likely benign | 17 | 41818096 | 41818096 | Human | | name |
| 405216071 | CV2981669 | single nucleotide variant | NM_021939.4(FKBP10):c.708C>G (p.Ala236=) | not provided [RCV003709262] | likely benign | 17 | 41818508 | 41818508 | Human | | name |
| 404986027 | CV3001473 | single nucleotide variant | NM_021939.4(FKBP10):c.318C>T (p.Leu106=) | not provided [RCV003691835] | likely benign | 17 | 41817130 | 41817130 | Human | | name |
| 402525117 | CV3007832 | single nucleotide variant | NM_021939.4(FKBP10):c.828C>T (p.Pro276=) | not provided [RCV003716723] | likely benign | 17 | 41819310 | 41819310 | Human | | name |
| 405035698 | CV3016694 | single nucleotide variant | NM_021939.4(FKBP10):c.480A>G (p.Thr160=) | not provided [RCV003695924] | likely benign | 17 | 41818177 | 41818177 | Human | | name |
| 402506865 | CV3039210 | single nucleotide variant | NM_021939.4(FKBP10):c.435T>G (p.Val145=) | not provided [RCV003715285] | likely benign | 17 | 41818132 | 41818132 | Human | | name |
| 405092207 | CV3044780 | single nucleotide variant | NM_021939.4(FKBP10):c.888C>T (p.Ser296=) | not provided [RCV003717787] | likely benign | 17 | 41819370 | 41819370 | Human | | name |
| 405254314 | CV3045201 | single nucleotide variant | NM_021939.4(FKBP10):c.717G>A (p.Glu239=) | FKBP10-related disorder [RCV003901313]|not provided [RCV003722803] | likely benign | 17 | 41818517 | 41818517 | Human | 1 | name , trait , alternate_id |
| 405157448 | CV3065109 | single nucleotide variant | NM_021939.4(FKBP10):c.516G>A (p.Gln172=) | not provided [RCV003726861] | likely benign | 17 | 41818213 | 41818213 | Human | | name |
| 405230705 | CV3073346 | single nucleotide variant | NM_021939.4(FKBP10):c.594C>T (p.Gly198=) | not provided [RCV003734846] | likely benign | 17 | 41818394 | 41818394 | Human | | name |
| 405007780 | CV3118255 | single nucleotide variant | NM_021939.4(FKBP10):c.945C>T (p.Thr315=) | not provided [RCV003828685] | likely benign | 17 | 41819557 | 41819557 | Human | | name |
| 405096037 | CV3119102 | single nucleotide variant | NM_021939.4(FKBP10):c.636G>A (p.Lys212=) | not provided [RCV003811553] | likely benign | 17 | 41818436 | 41818436 | Human | | name |
| 405187320 | CV3121197 | single nucleotide variant | NM_021939.4(FKBP10):c.771C>T (p.Leu257=) | not provided [RCV003820653] | likely benign | 17 | 41819253 | 41819253 | Human | | name |
| 405206097 | CV3126713 | single nucleotide variant | NM_021939.4(FKBP10):c.909C>T (p.Phe303=) | not provided [RCV003822647] | likely benign | 17 | 41819391 | 41819391 | Human | | name |
| 405122062 | CV3131652 | single nucleotide variant | NM_021939.4(FKBP10):c.561C>T (p.Asp187=) | not provided [RCV003837516] | likely benign | 17 | 41818258 | 41818258 | Human | | name |
| 405110367 | CV3133134 | single nucleotide variant | NM_021939.4(FKBP10):c.780C>T (p.Asp260=) | not provided [RCV003836120] | likely benign | 17 | 41819262 | 41819262 | Human | | name |
| 405218693 | CV3135743 | single nucleotide variant | NM_021939.4(FKBP10):c.540C>T (p.His180=) | not provided [RCV003824368] | likely benign | 17 | 41818237 | 41818237 | Human | | name |
| 405077748 | CV3136970 | single nucleotide variant | NM_021939.4(FKBP10):c.816G>A (p.Thr272=) | not provided [RCV003833868] | likely benign | 17 | 41819298 | 41819298 | Human | | name |
| 405022994 | CV3139349 | single nucleotide variant | NM_021939.4(FKBP10):c.357G>C (p.Val119=) | not provided [RCV003829992] | likely benign | 17 | 41817169 | 41817169 | Human | | name |
| 405215180 | CV3143221 | single nucleotide variant | NM_021939.4(FKBP10):c.855C>T (p.Ala285=) | not provided [RCV003846384] | likely benign | 17 | 41819337 | 41819337 | Human | | name |
| 405183162 | CV3147667 | single nucleotide variant | NM_021939.4(FKBP10):c.630G>C (p.Leu210=) | not provided [RCV003842569] | likely benign | 17 | 41818430 | 41818430 | Human | | name |
| 405224063 | CV3151226 | single nucleotide variant | NM_021939.4(FKBP10):c.567C>G (p.Thr189=) | FKBP10-related disorder [RCV003909189]|not provided [RCV003847651] | likely benign | 17 | 41818264 | 41818264 | Human | 1 | name , trait , alternate_id |
| 405148679 | CV3152202 | single nucleotide variant | NM_021939.4(FKBP10):c.798C>T (p.Asp266=) | not provided [RCV003856173] | likely benign | 17 | 41819280 | 41819280 | Human | | name |
| 405162647 | CV3153142 | single nucleotide variant | NM_021939.4(FKBP10):c.348C>T (p.Arg116=) | not provided [RCV003840877] | likely benign | 17 | 41817160 | 41817160 | Human | | name |
| 405230123 | CV3153824 | single nucleotide variant | NM_021939.4(FKBP10):c.495C>T (p.Pro165=) | not provided [RCV003848691] | likely benign | 17 | 41818192 | 41818192 | Human | | name |
| 405210961 | CV3162744 | insertion | NM_021939.4(FKBP10):c.1256+8_1256+9insCG | not provided [RCV003862043] | likely benign | 17 | 41820469 | 41820470 | Human | | name |
| 405201976 | CV3165024 | single nucleotide variant | NM_021939.4(FKBP10):c.816G>C (p.Thr272=) | not provided [RCV003860885] | likely benign | 17 | 41819298 | 41819298 | Human | | name |
| 405193827 | CV3167602 | single nucleotide variant | NM_021939.4(FKBP10):c.609C>T (p.Thr203=) | not provided [RCV003860008] | likely benign | 17 | 41818409 | 41818409 | Human | | name |
| 405254004 | CV3174930 | single nucleotide variant | NM_021939.4(FKBP10):c.384C>T (p.Ile128=) | not provided [RCV003871382] | likely benign | 17 | 41817196 | 41817196 | Human | | name |
| 404985410 | CV3183709 | single nucleotide variant | NM_021939.4(FKBP10):c.618C>T (p.Gly206=) | not provided [RCV003880986] | likely benign | 17 | 41818418 | 41818418 | Human | | name |
| 405779998 | CV3260672 | single nucleotide variant | NM_021939.4(FKBP10):c.918C>T (p.Ser306=) | Inborn genetic diseases [RCV004386607] | likely benign | 17 | 41819530 | 41819530 | Human | 1 | name |
| 11631535 | CV345852 | single nucleotide variant | NM_021939.4(FKBP10):c.573C>T (p.Phe191=) | Osteogenesis imperfecta type 11 [RCV000381080]|not provided [RCV002056598] | likely benign|uncertain significance | 17 | 41818270 | 41818270 | Human | 1 | name |
| 11632412 | CV345855 | single nucleotide variant | NM_021939.4(FKBP10):c.732A>G (p.Thr244=) | Osteogenesis imperfecta type 11 [RCV000844871]|not provided [RCV000959412] | benign|likely benign | 17 | 41819214 | 41819214 | Human | 1 | name |
| 11628385 | CV345859 | single nucleotide variant | NM_021939.4(FKBP10):c.825C>A (p.Leu275=) | Osteogenesis imperfecta type 11 [RCV000301017]|not provided [RCV000942336] | likely benign|uncertain significance | 17 | 41819307 | 41819307 | Human | 1 | name |
| 11629957 | CV345860 | single nucleotide variant | NM_021939.4(FKBP10):c.984G>A (p.Gln328=) | Osteogenesis imperfecta type 11 [RCV000337131]|not provided [RCV003765877] | likely benign|uncertain significance | 17 | 41819596 | 41819596 | Human | 1 | name |
| 597858544 | CV3769642 | single nucleotide variant | NM_021939.4(FKBP10):c.429T>C (p.Asp143=) | not provided [RCV005105684] | likely benign | 17 | 41818126 | 41818126 | Human | | name |
| 617151137 | CV4021861 | single nucleotide variant | NM_021939.4(FKBP10):c.951C>T (p.Ile317=) | not provided [RCV005426822] | likely benign | 17 | 41819563 | 41819563 | Human | | name |
| 13535157 | CV506317 | single nucleotide variant | NM_021939.4(FKBP10):c.828C>G (p.Pro276=) | not specified [RCV000607575] | likely benign | 17 | 41819310 | 41819310 | Human | | name |
| 13530892 | CV506813 | single nucleotide variant | NM_021939.4(FKBP10):c.537C>T (p.Tyr179=) | not provided [RCV003767675]|not specified [RCV000600869] | likely benign | 17 | 41818234 | 41818234 | Human | | name |
| 13532239 | CV512281 | single nucleotide variant | NM_021939.4(FKBP10):c.77C>T (p.Ala26Val) | Inborn genetic diseases [RCV000624025] | uncertain significance | 17 | 41813111 | 41813111 | Human | 1 | name |
| 14746705 | CV671993 | single nucleotide variant | NM_021939.4(FKBP10):c.363C>T (p.Pro121=) | Osteogenesis imperfecta type 11 [RCV000844868]|not provided [RCV003660836] | benign|likely benign | 17 | 41817175 | 41817175 | Human | 1 | name |
| 14746706 | CV671995 | single nucleotide variant | NM_021939.4(FKBP10):c.492G>A (p.Pro164=) | Osteogenesis imperfecta type 11 [RCV000844869]|not provided [RCV000913221] | benign|likely benign | 17 | 41818189 | 41818189 | Human | 1 | name |
| 14746707 | CV671996 | single nucleotide variant | NM_021939.4(FKBP10):c.906C>A (p.Leu302=) | Osteogenesis imperfecta type 11 [RCV000844872] | benign | 17 | 41819388 | 41819388 | Human | 1 | name |
| 15145307 | CV740742 | single nucleotide variant | NM_021939.4(FKBP10):c.420C>G (p.Leu140=) | not provided [RCV000900141] | likely benign | 17 | 41818117 | 41818117 | Human | | name |
| 15155318 | CV740743 | single nucleotide variant | NM_021939.4(FKBP10):c.615C>T (p.Val205=) | not provided [RCV000902118] | likely benign | 17 | 41818415 | 41818415 | Human | | name |
| 15109871 | CV755833 | single nucleotide variant | NM_021939.4(FKBP10):c.309C>T (p.Asp103=) | Osteogenesis imperfecta [RCV002279635]|not provided [RCV000916420] | likely benign|uncertain significance | 17 | 41817121 | 41817121 | Human | 1 | name |
| 15147243 | CV755834 | single nucleotide variant | NM_021939.4(FKBP10):c.519C>T (p.Asp173=) | not provided [RCV000922868] | likely benign | 17 | 41818216 | 41818216 | Human | | name |
| 21406366 | CV800032 | single nucleotide variant | NM_021939.4(FKBP10):c.942T>C (p.Asn314=) | Osteogenesis imperfecta [RCV002279702]|Osteogenesis imperfecta type 11 [RCV001128130]|not provided [RCV002068797]|not specified [RCV001002571] | likely benign|uncertain significance | 17 | 41819554 | 41819554 | Human | 2 | name |
| 28902012 | CV877483 | single nucleotide variant | NM_021939.4(FKBP10):c.393G>A (p.Ala131=) | FKBP10-related disorder [RCV003938476]|Osteogenesis imperfecta [RCV002276630]|Osteogenesis imperfecta type 11 [RCV001125050]|not provided [RCV003117771] | benign|likely benign|uncertain significance | 17 | 41818090 | 41818090 | Human | 2 | name , trait , alternate_id |
| 28902015 | CV877484 | single nucleotide variant | NM_021939.4(FKBP10):c.408G>A (p.Pro136=) | Osteogenesis imperfecta type 11 [RCV001125051]|not provided [RCV002307688] | uncertain significance | 17 | 41818105 | 41818105 | Human | 1 | name |
| 28904301 | CV877486 | single nucleotide variant | NM_021939.4(FKBP10):c.522C>T (p.Gly174=) | Osteogenesis imperfecta type 11 [RCV001126028]|not provided [RCV003546636] | likely benign|uncertain significance | 17 | 41818219 | 41818219 | Human | 1 | name |
| 28904304 | CV877487 | single nucleotide variant | NM_021939.4(FKBP10):c.591G>A (p.Lys197=) | Osteogenesis imperfecta type 11 [RCV001126029]|not provided [RCV003679039] | likely benign|uncertain significance | 17 | 41818391 | 41818391 | Human | 1 | name |
| 28904312 | CV877489 | single nucleotide variant | NM_021939.4(FKBP10):c.792G>A (p.Pro264=) | Osteogenesis imperfecta type 11 [RCV001126031]|not provided [RCV002070060] | likely benign|uncertain significance | 17 | 41819274 | 41819274 | Human | 1 | name |
| 150425239 | CV1185254 | single nucleotide variant | NM_021939.4(FKBP10):c.209A>G (p.Asn70Ser) | not provided [RCV001557747] | uncertain significance | 17 | 41813243 | 41813243 | Human | | name |
| 150460960 | CV1275894 | insertion | NM_021939.4(FKBP10):c.727+296_727+297insC | not provided [RCV001709832] | benign | 17 | 41818823 | 41818824 | Human | | name |
| 151798742 | CV1376694 | single nucleotide variant | NM_021939.4(FKBP10):c.131T>C (p.Val44Ala) | not provided [RCV001932108] | uncertain significance | 17 | 41813165 | 41813165 | Human | | name |
| 151773618 | CV1402198 | single nucleotide variant | NM_021939.4(FKBP10):c.113G>A (p.Gly38Glu) | not provided [RCV001929764] | uncertain significance | 17 | 41813147 | 41813147 | Human | | name |
| 151768520 | CV1409545 | single nucleotide variant | NM_021939.4(FKBP10):c.289C>T (p.Arg97Cys) | not provided [RCV001896103] | uncertain significance | 17 | 41817101 | 41817101 | Human | | name |
| 151729120 | CV1416421 | single nucleotide variant | NM_021939.4(FKBP10):c.1545C>T (p.Gly515=) | not provided [RCV002004588] | uncertain significance | 17 | 41821799 | 41821799 | Human | | name |
| 151861112 | CV1423149 | single nucleotide variant | NM_021939.4(FKBP10):c.205T>C (p.Tyr69His) | not provided [RCV001980132] | uncertain significance | 17 | 41813239 | 41813239 | Human | | name |
| 151724051 | CV1436987 | single nucleotide variant | NM_021939.4(FKBP10):c.215C>T (p.Thr72Ile) | not provided [RCV002004048] | uncertain significance | 17 | 41813249 | 41813249 | Human | | name |
| 151825749 | CV1453054 | single nucleotide variant | NM_021939.4(FKBP10):c.115G>A (p.Gly39Ser) | Inborn genetic diseases [RCV003164016]|not provided [RCV002050236] | uncertain significance | 17 | 41813149 | 41813149 | Human | 1 | name |
| 151790341 | CV1515345 | single nucleotide variant | NM_021939.4(FKBP10):c.172G>A (p.Glu58Lys) | not provided [RCV002027162] | uncertain significance | 17 | 41813206 | 41813206 | Human | | name |
| 152100134 | CV1524746 | single nucleotide variant | NM_021939.4(FKBP10):c.1692C>T (p.Val564=) | not provided [RCV002172987] | likely benign | 17 | 41822351 | 41822351 | Human | | name |
| 152133679 | CV1547274 | single nucleotide variant | NM_021939.4(FKBP10):c.1479C>T (p.Tyr493=) | FKBP10-related disorder [RCV003903568]|not provided [RCV002155865] | likely benign | 17 | 41821733 | 41821733 | Human | 1 | name , trait , alternate_id |
| 152071698 | CV1549195 | single nucleotide variant | NM_021939.4(FKBP10):c.1086C>T (p.Ala362=) | not provided [RCV002091675] | likely benign | 17 | 41820291 | 41820291 | Human | | name |
| 152106356 | CV1612796 | single nucleotide variant | NM_021939.4(FKBP10):c.1425G>A (p.Val475=) | not provided [RCV002173770] | likely benign | 17 | 41821679 | 41821679 | Human | | name |
| 152047607 | CV1619933 | single nucleotide variant | NM_021939.4(FKBP10):c.1476C>T (p.Gly492=) | not provided [RCV002207106] | likely benign | 17 | 41821730 | 41821730 | Human | | name |
| 152038097 | CV1625002 | single nucleotide variant | NM_021939.4(FKBP10):c.1029C>A (p.Ile343=) | not provided [RCV002205923] | likely benign | 17 | 41819641 | 41819641 | Human | | name |
| 152067032 | CV1636776 | single nucleotide variant | NM_021939.4(FKBP10):c.1377C>T (p.His459=) | not provided [RCV002110928] | likely benign | 17 | 41821067 | 41821067 | Human | | name |
| 152979582 | CV1675640 | single nucleotide variant | NM_021939.4(FKBP10):c.179A>C (p.Gln60Pro) | Bruck syndrome 1 [RCV002244230] | likely pathogenic | 17 | 41813213 | 41813213 | Human | 1 | name |
| 152999280 | CV1679489 | single nucleotide variant | NM_021939.4(FKBP10):c.124G>T (p.Glu42Ter) | Bruck syndrome 1 [RCV002250878] | pathogenic | 17 | 41813158 | 41813158 | Human | 1 | name |
| 10045121 | CV188882 | deletion | NM_021939.4(FKBP10):c.354del (p.Ile118fs) | Osteogenesis imperfecta [RCV004798795]|not provided [RCV000171256] | likely pathogenic | 17 | 41817165 | 41817165 | Human | 1 | name |
| 155966300 | CV1892181 | single nucleotide variant | NM_021939.4(FKBP10):c.1371C>T (p.Pro457=) | not provided [RCV003074948] | likely benign | 17 | 41821061 | 41821061 | Human | | name |
| 156368365 | CV1904930 | single nucleotide variant | NM_021939.4(FKBP10):c.1236C>T (p.Asp412=) | not provided [RCV002582237] | likely benign | 17 | 41820441 | 41820441 | Human | | name |
| 156152293 | CV1961121 | single nucleotide variant | NM_021939.4(FKBP10):c.1557G>A (p.Pro519=) | not provided [RCV002572937] | likely benign | 17 | 41821811 | 41821811 | Human | | name |
| 156325542 | CV1972674 | insertion | NM_021939.4(FKBP10):c.1256+10_1256+11insC | not provided [RCV002600505] | likely benign | 17 | 41820471 | 41820472 | Human | | name |
| 156044193 | CV1977963 | single nucleotide variant | NM_021939.4(FKBP10):c.1444C>T (p.Leu482=) | not provided [RCV002590438] | likely benign | 17 | 41821698 | 41821698 | Human | | name |
| 156290284 | CV1998169 | single nucleotide variant | NM_021939.4(FKBP10):c.1266C>T (p.Tyr422=) | not provided [RCV002647165] | likely benign | 17 | 41820956 | 41820956 | Human | | name |
| 156085633 | CV2008752 | single nucleotide variant | NM_021939.4(FKBP10):c.1494C>T (p.His498=) | not provided [RCV002706136] | likely benign | 17 | 41821748 | 41821748 | Human | | name |
| 155980896 | CV2025150 | single nucleotide variant | NM_021939.4(FKBP10):c.1686C>T (p.Ile562=) | not provided [RCV002755321] | likely benign | 17 | 41822345 | 41822345 | Human | | name |
| 156099386 | CV2042112 | single nucleotide variant | NM_021939.4(FKBP10):c.1386C>T (p.His462=) | not provided [RCV002761258] | likely benign | 17 | 41821076 | 41821076 | Human | | name |
| 156126262 | CV2088396 | single nucleotide variant | NM_021939.4(FKBP10):c.1263C>T (p.Asp421=) | not provided [RCV002871462] | likely benign | 17 | 41820953 | 41820953 | Human | | name |
| 156353873 | CV2118945 | single nucleotide variant | NM_021939.4(FKBP10):c.1722C>T (p.Asp574=) | not provided [RCV002966507] | likely benign | 17 | 41822381 | 41822381 | Human | | name |
| 156333238 | CV2172018 | single nucleotide variant | NM_021939.4(FKBP10):c.1044C>G (p.Ala348=) | not provided [RCV003029887] | likely benign | 17 | 41819656 | 41819656 | Human | | name |
| 156166454 | CV2190047 | single nucleotide variant | NM_021939.4(FKBP10):c.1536C>T (p.Asn512=) | not provided [RCV003040893] | likely benign | 17 | 41821790 | 41821790 | Human | | name |
| 11040190 | CV223011 | deletion | NM_021939.4(FKBP10):c.976del (p.Met326fs) | Osteogenesis imperfecta type 11 [RCV000208538]|not provided [RCV002515558] | pathogenic | 17 | 41819588 | 41819588 | Human | 1 | name |
| 156083386 | CV2249195 | single nucleotide variant | NM_021939.4(FKBP10):c.112G>T (p.Gly38Trp) | Inborn genetic diseases [RCV002798083] | uncertain significance | 17 | 41813146 | 41813146 | Human | 1 | name |
| 156257421 | CV2277660 | single nucleotide variant | NM_021939.4(FKBP10):c.254G>A (p.Arg85His) | Inborn genetic diseases [RCV002855200] | uncertain significance | 17 | 41817066 | 41817066 | Human | 1 | name |
| 401721009 | CV2737395 | single nucleotide variant | NM_021939.4(FKBP10):c.138C>G (p.Ile46Met) | Bruck syndrome 1 [RCV003314334] | uncertain significance | 17 | 41813172 | 41813172 | Human | 1 | name |
| 402482451 | CV2860632 | single nucleotide variant | NM_021939.4(FKBP10):c.1705C>T (p.Leu569=) | not provided [RCV003544162] | likely benign | 17 | 41822364 | 41822364 | Human | | name |
| 402491651 | CV2866779 | single nucleotide variant | NM_021939.4(FKBP10):c.1359G>A (p.Gln453=) | not provided [RCV003573013] | likely benign | 17 | 41821049 | 41821049 | Human | | name |
| 405162070 | CV2895310 | insertion | NM_021939.4(FKBP10):c.1256+10_1256+11insT | not provided [RCV003562467] | likely benign | 17 | 41820471 | 41820472 | Human | | name |
| 405222898 | CV2908543 | single nucleotide variant | NM_021939.4(FKBP10):c.1602A>G (p.Lys534=) | not provided [RCV003568704] | likely benign | 17 | 41822261 | 41822261 | Human | | name |
| 405179508 | CV2913218 | single nucleotide variant | NM_021939.4(FKBP10):c.1470C>T (p.Pro490=) | not provided [RCV003563810] | likely benign | 17 | 41821724 | 41821724 | Human | | name |
| 402476049 | CV2916886 | single nucleotide variant | NM_021939.4(FKBP10):c.1116C>T (p.Asp372=) | not provided [RCV003571441] | likely benign | 17 | 41820321 | 41820321 | Human | | name |
| 402482036 | CV2921689 | single nucleotide variant | NM_021939.4(FKBP10):c.1728G>A (p.Glu576=) | not provided [RCV003572186] | likely benign | 17 | 41822387 | 41822387 | Human | | name |
| 405013298 | CV2930201 | single nucleotide variant | NM_021939.4(FKBP10):c.1464G>A (p.Gly488=) | not provided [RCV003576923] | likely benign | 17 | 41821718 | 41821718 | Human | | name |
| 405070375 | CV2936912 | single nucleotide variant | NM_021939.4(FKBP10):c.1260T>C (p.His420=) | not provided [RCV003659309] | likely benign | 17 | 41820950 | 41820950 | Human | | name |
| 405100566 | CV2938324 | single nucleotide variant | NM_021939.4(FKBP10):c.1452C>T (p.Ser484=) | not provided [RCV003665931] | likely benign | 17 | 41821706 | 41821706 | Human | | name |
| 405160851 | CV2951286 | single nucleotide variant | NM_021939.4(FKBP10):c.1509C>T (p.Ala503=) | not provided [RCV003670718] | likely benign | 17 | 41821763 | 41821763 | Human | | name |
| 405174901 | CV2955485 | single nucleotide variant | NM_021939.4(FKBP10):c.1332G>A (p.Gln444=) | not provided [RCV003675666] | likely benign | 17 | 41821022 | 41821022 | Human | | name |
| 405148229 | CV2960099 | single nucleotide variant | NM_021939.4(FKBP10):c.1134T>C (p.Asp378=) | not provided [RCV003669810] | likely benign | 17 | 41820339 | 41820339 | Human | | name |
| 405124563 | CV2961556 | single nucleotide variant | NM_021939.4(FKBP10):c.1101C>T (p.Asn367=) | not provided [RCV003667730] | likely benign | 17 | 41820306 | 41820306 | Human | | name |
| 405136890 | CV2963180 | single nucleotide variant | NM_021939.4(FKBP10):c.1188C>T (p.Thr396=) | not provided [RCV003668865] | likely benign | 17 | 41820393 | 41820393 | Human | | name |
| 405185189 | CV2963824 | single nucleotide variant | NM_021939.4(FKBP10):c.1041C>T (p.Leu347=) | not provided [RCV003676680] | likely benign | 17 | 41819653 | 41819653 | Human | | name |
| 405212422 | CV2971089 | single nucleotide variant | NM_021939.4(FKBP10):c.1281G>A (p.Glu427=) | not provided [RCV003679584] | likely benign | 17 | 41820971 | 41820971 | Human | | name |
| 405244722 | CV2972608 | single nucleotide variant | NM_021939.4(FKBP10):c.1446G>C (p.Leu482=) | not provided [RCV003684931] | likely benign | 17 | 41821700 | 41821700 | Human | | name |
| 405240934 | CV2973928 | single nucleotide variant | NM_021939.4(FKBP10):c.1701C>G (p.Leu567=) | not provided [RCV003683969] | likely benign | 17 | 41822360 | 41822360 | Human | | name |
| 405212896 | CV2974467 | single nucleotide variant | NM_021939.4(FKBP10):c.1569C>A (p.Ser523=) | not provided [RCV003679559] | likely benign | 17 | 41822228 | 41822228 | Human | | name |
| 405200935 | CV2978928 | single nucleotide variant | NM_021939.4(FKBP10):c.1365C>T (p.Ile455=) | not provided [RCV003678176] | likely benign | 17 | 41821055 | 41821055 | Human | | name |
| 405009645 | CV2986934 | single nucleotide variant | NM_021939.4(FKBP10):c.1275C>T (p.Pro425=) | not provided [RCV003693872] | likely benign | 17 | 41820965 | 41820965 | Human | | name |
| 402525370 | CV3015134 | single nucleotide variant | NM_021939.4(FKBP10):c.1356G>T (p.Arg452=) | not provided [RCV003690554] | likely benign | 17 | 41821046 | 41821046 | Human | | name |
| 405143266 | CV3023145 | single nucleotide variant | NM_021939.4(FKBP10):c.1443G>A (p.Glu481=) | not provided [RCV003702705] | likely benign | 17 | 41821697 | 41821697 | Human | | name |
| 405158039 | CV3024758 | single nucleotide variant | NM_021939.4(FKBP10):c.1617T>C (p.Pro539=) | not provided [RCV003703766] | likely benign | 17 | 41822276 | 41822276 | Human | | name |
| 405207541 | CV3036996 | single nucleotide variant | NM_021939.4(FKBP10):c.1719G>A (p.Glu573=) | not provided [RCV003708200] | likely benign | 17 | 41822378 | 41822378 | Human | | name |
| 405242727 | CV3043039 | single nucleotide variant | NM_021939.4(FKBP10):c.1737C>T (p.His579=) | not provided [RCV003719568] | likely benign | 17 | 41822396 | 41822396 | Human | | name |
| 405210921 | CV3059070 | single nucleotide variant | NM_021939.4(FKBP10):c.1465C>T (p.Leu489=) | not provided [RCV003731995] | likely benign | 17 | 41821719 | 41821719 | Human | | name |
| 405226041 | CV3059249 | single nucleotide variant | NM_021939.4(FKBP10):c.1695C>T (p.Asp565=) | not provided [RCV003734063] | likely benign | 17 | 41822354 | 41822354 | Human | | name |
| 405158998 | CV3061649 | single nucleotide variant | NM_021939.4(FKBP10):c.1218C>T (p.Tyr406=) | not provided [RCV003726961] | likely benign | 17 | 41820423 | 41820423 | Human | | name |
| 405041760 | CV3064065 | single nucleotide variant | NM_021939.4(FKBP10):c.1677C>T (p.Asp559=) | not provided [RCV003739951] | likely benign | 17 | 41822336 | 41822336 | Human | | name |
| 405240199 | CV3064283 | single nucleotide variant | NM_021939.4(FKBP10):c.1272C>T (p.Ala424=) | not provided [RCV003737079] | likely benign | 17 | 41820962 | 41820962 | Human | | name |
| 405210975 | CV3117743 | single nucleotide variant | NM_021939.4(FKBP10):c.1194T>C (p.Leu398=) | not provided [RCV003823342] | likely benign | 17 | 41820399 | 41820399 | Human | | name |
| 404983047 | CV3121543 | single nucleotide variant | NM_021939.4(FKBP10):c.1050G>A (p.Gly350=) | not provided [RCV003826342] | likely benign | 17 | 41819662 | 41819662 | Human | | name |
| 405117014 | CV3134275 | single nucleotide variant | NM_021939.4(FKBP10):c.1596G>A (p.Glu532=) | not provided [RCV003836877] | likely benign | 17 | 41822255 | 41822255 | Human | | name |
| 402519478 | CV3135960 | single nucleotide variant | NM_021939.4(FKBP10):c.1620G>C (p.Gly540=) | not provided [RCV003824586] | likely benign | 17 | 41822279 | 41822279 | Human | | name |
| 405083086 | CV3137559 | single nucleotide variant | NM_021939.4(FKBP10):c.1449G>C (p.Val483=) | not provided [RCV003834268] | likely benign | 17 | 41821703 | 41821703 | Human | | name |
| 405088693 | CV3138139 | single nucleotide variant | NM_021939.4(FKBP10):c.1032C>G (p.Pro344=) | not provided [RCV003834657] | likely benign | 17 | 41819644 | 41819644 | Human | | name |
| 405199366 | CV3147163 | single nucleotide variant | NM_021939.4(FKBP10):c.1284G>A (p.Ala428=) | not provided [RCV003844323] | likely benign | 17 | 41820974 | 41820974 | Human | | name |
| 405050760 | CV3150939 | single nucleotide variant | NM_021939.4(FKBP10):c.1090C>T (p.Leu364=) | not provided [RCV003849543] | likely benign | 17 | 41820295 | 41820295 | Human | | name |
| 405050776 | CV3150940 | single nucleotide variant | NM_021939.4(FKBP10):c.1278G>A (p.Gln426=) | not provided [RCV003849544] | likely benign | 17 | 41820968 | 41820968 | Human | | name |
| 405155433 | CV3159351 | single nucleotide variant | NM_021939.4(FKBP10):c.1671C>T (p.Asn557=) | not provided [RCV003856616] | likely benign | 17 | 41822330 | 41822330 | Human | | name |
| 405238036 | CV3165436 | single nucleotide variant | NM_021939.4(FKBP10):c.1272C>A (p.Ala424=) | not provided [RCV003866638] | likely benign | 17 | 41820962 | 41820962 | Human | | name |
| 405236087 | CV3166318 | single nucleotide variant | NM_021939.4(FKBP10):c.1035G>A (p.Pro345=) | not provided [RCV003853767] | likely benign | 17 | 41819647 | 41819647 | Human | | name |
| 405236510 | CV3166493 | single nucleotide variant | NM_021939.4(FKBP10):c.226G>A (p.Gly76Ser) | Inborn genetic diseases [RCV004369480]|not provided [RCV003853942] | uncertain significance | 17 | 41813260 | 41813260 | Human | 1 | name |
| 405779980 | CV3260669 | single nucleotide variant | NM_021939.4(FKBP10):c.176T>C (p.Val59Ala) | Inborn genetic diseases [RCV004386604] | uncertain significance | 17 | 41813210 | 41813210 | Human | 1 | name |
| 11651200 | CV338381 | single nucleotide variant | NM_021939.4(FKBP10):c.1098C>T (p.Phe366=) | Osteogenesis imperfecta type 11 [RCV000297418]|not provided [RCV003765878] | likely benign|uncertain significance | 17 | 41820303 | 41820303 | Human | 1 | name |
| 11622218 | CV338387 | single nucleotide variant | NM_021939.4(FKBP10):c.1374G>A (p.Pro458=) | FKBP10-related disorder [RCV003912339]|Osteogenesis imperfecta type 11 [RCV000357858]|not provided [RCV000834470] | benign|likely benign|uncertain significance | 17 | 41821064 | 41821064 | Human | 1 | name , trait , alternate_id |
| 407502793 | CV3435919 | single nucleotide variant | NM_021939.4(FKBP10):c.118C>T (p.Pro40Ser) | Inborn genetic diseases [RCV004623563] | uncertain significance | 17 | 41813152 | 41813152 | Human | 1 | name |
| 597769714 | CV3709006 | deletion | NM_021939.4(FKBP10):c.743del (p.Pro248fs) | Bruck syndrome 1 [RCV005020221] | likely pathogenic | 17 | 41819220 | 41819220 | Human | 1 | name |
| 597936442 | CV3807645 | single nucleotide variant | NM_021939.4(FKBP10):c.1453C>A (p.Arg485=) | not provided [RCV005158024] | likely benign | 17 | 41821707 | 41821707 | Human | | name |
| 597889126 | CV3856018 | single nucleotide variant | NM_021939.4(FKBP10):c.1429C>T (p.Leu477=) | not provided [RCV005200263] | likely benign | 17 | 41821683 | 41821683 | Human | | name |
| 8568478 | CV39592 | duplication | NM_021939.4(FKBP10):c.743dup (p.Gln249fs) | Bruck syndrome 1 [RCV000023610]|Osteogenesis imperfecta [RCV005055522]|Osteogenesis imperfecta type 11 [RCV003985074] | pathogenic | 17 | 41819219 | 41819220 | Human | 3 | name |
| 13435630 | CV432334 | duplication | NM_021939.4(FKBP10):c.831dup (p.Gly278fs) | Abnormality of the skeletal system [RCV001814173]|Bruck syndrome 1 [RCV000034358]|Bruck syndrome 1 [RCV005018866]|Osteogenesis imperfecta [RCV004798839]|Osteogenesis imperfecta type 11 [RCV000505676]|Osteogenesis imperfecta type 12 [RCV000003711]|not provided [RCV000514347] | pathogenic|conflicting interpretations of pathogenicity | 17 | 41819306 | 41819307 | Human | 5 | name |
| 13523374 | CV492408 | single nucleotide variant | NM_021939.4(FKBP10):c.1029C>T (p.Ile343=) | not provided [RCV000592911] | conflicting interpretations of pathogenicity|uncertain significance | 17 | 41819641 | 41819641 | Human | | name |
| 13520972 | CV495422 | deletion | NM_021939.4(FKBP10):c.831del (p.Gly278fs) | Bruck syndrome 1 [RCV005019027]|Osteogenesis imperfecta type 11 [RCV003985091]|not provided [RCV000599070] | pathogenic | 17 | 41819307 | 41819307 | Human | 2 | name |
| 8571227 | CV50336 | duplication | NM_021939.4(FKBP10):c.948dup (p.Ile317fs) | Osteogenesis imperfecta type 12 [RCV000034825]|not provided [RCV003556109] | pathogenic | 17 | 41819559 | 41819560 | Human | 1 | name |
| 13526907 | CV505903 | single nucleotide variant | NM_021939.4(FKBP10):c.1734C>T (p.Val578=) | FKBP10-related disorder [RCV003928010]|Osteogenesis imperfecta [RCV002279428]|not provided [RCV000882042] | benign|likely benign | 17 | 41822393 | 41822393 | Human | 2 | name , trait , alternate_id |
| 13836659 | CV587937 | single nucleotide variant | NM_021939.4(FKBP10):c.1269G>A (p.Gly423=) | not provided [RCV000732840] | conflicting interpretations of pathogenicity|uncertain significance | 17 | 41820959 | 41820959 | Human | | name |
| 14746704 | CV671990 | single nucleotide variant | NM_021939.4(FKBP10):c.100G>A (p.Ala34Thr) | Osteogenesis imperfecta type 11 [RCV000844867] | uncertain significance | 17 | 41813134 | 41813134 | Human | 1 | name |
| 14746700 | CV671991 | single nucleotide variant | NM_021939.4(FKBP10):c.106C>A (p.Pro36Thr) | Osteogenesis imperfecta type 11 [RCV000844862] | likely pathogenic | 17 | 41813140 | 41813140 | Human | 1 | name |
| 14746701 | CV671992 | single nucleotide variant | NM_021939.4(FKBP10):c.134T>A (p.Val45Asp) | Osteogenesis imperfecta type 11 [RCV000844863] | likely pathogenic | 17 | 41813168 | 41813168 | Human | 1 | name |
| 14746708 | CV671997 | single nucleotide variant | NM_021939.4(FKBP10):c.1014C>T (p.Arg338=) | FKBP10-related disorder [RCV003955559]|Osteogenesis imperfecta type 11 [RCV000844873]|not provided [RCV000917122] | benign|likely benign | 17 | 41819626 | 41819626 | Human | 1 | name , trait , alternate_id |
| 15136025 | CV715453 | single nucleotide variant | NM_021939.4(FKBP10):c.1137G>A (p.Val379=) | FKBP10-related disorder [RCV003935996]|Osteogenesis imperfecta [RCV002279671]|not provided [RCV000965382] | benign|likely benign|uncertain significance | 17 | 41820342 | 41820342 | Human | 2 | name , trait , alternate_id |
| 15185935 | CV740744 | single nucleotide variant | NM_021939.4(FKBP10):c.1290C>T (p.Leu430=) | Osteogenesis imperfecta [RCV002279627]|Osteogenesis imperfecta type 11 [RCV001122386]|not provided [RCV000908666]|not specified [RCV004702517] | likely benign|uncertain significance | 17 | 41820980 | 41820980 | Human | 2 | name |
| 15167012 | CV755835 | single nucleotide variant | NM_021939.4(FKBP10):c.1059A>G (p.Gly353=) | not provided [RCV000926995] | likely benign | 17 | 41819671 | 41819671 | Human | | name |
| 15115472 | CV771490 | single nucleotide variant | NM_021939.4(FKBP10):c.1632G>A (p.Glu544=) | not provided [RCV000939492] | likely benign | 17 | 41822291 | 41822291 | Human | | name |
| 28879748 | CV860382 | deletion | NM_021939.4(FKBP10):c.-8_78del (p.Met1fs) | not provided [RCV001090841] | pathogenic | 17 | 41813026 | 41813111 | Human | | name |
| 28902008 | CV877482 | single nucleotide variant | NM_021939.4(FKBP10):c.268G>A (p.Ala90Thr) | Osteogenesis imperfecta type 11 [RCV001125049] | uncertain significance | 17 | 41817080 | 41817080 | Human | 1 | name |
| 28895206 | CV877491 | single nucleotide variant | NM_021939.4(FKBP10):c.1308C>T (p.Ile436=) | Osteogenesis imperfecta type 11 [RCV001122387]|not provided [RCV002069995] | likely benign|uncertain significance | 17 | 41820998 | 41820998 | Human | 1 | name |
| 28895211 | CV877492 | single nucleotide variant | NM_021939.4(FKBP10):c.1323G>A (p.Thr441=) | Osteogenesis imperfecta type 11 [RCV001122388]|not provided [RCV003769187] | likely benign|uncertain significance | 17 | 41821013 | 41821013 | Human | 1 | name |
| 126739606 | CV1018286 | single nucleotide variant | NM_021939.4(FKBP10):c.921C>G (p.Tyr307Ter) | Bruck syndrome 1 [RCV001329236] | pathogenic | 17 | 41819533 | 41819533 | Human | | name |
| 150528917 | CV1288563 | single nucleotide variant | NM_021939.4(FKBP10):c.343C>T (p.Arg115Ter) | not provided [RCV001727031] | pathogenic | 17 | 41817155 | 41817155 | Human | | name |
| 151711855 | CV1340937 | single nucleotide variant | NM_021939.4(FKBP10):c.545A>G (p.Asn182Ser) | not provided [RCV002002140] | uncertain significance | 17 | 41818242 | 41818242 | Human | | name |
| 151846085 | CV1342024 | single nucleotide variant | NM_021939.4(FKBP10):c.532C>T (p.Arg178Cys) | Inborn genetic diseases [RCV004975762]|not provided [RCV001922131] | uncertain significance | 17 | 41818229 | 41818229 | Human | 1 | name |
| 151765011 | CV1387419 | single nucleotide variant | NM_021939.4(FKBP10):c.770T>C (p.Leu257Pro) | not provided [RCV001987689] | uncertain significance | 17 | 41819252 | 41819252 | Human | | name |
| 151744016 | CV1398268 | single nucleotide variant | NM_021939.4(FKBP10):c.642G>A (p.Met214Ile) | not provided [RCV002042528] | uncertain significance | 17 | 41818442 | 41818442 | Human | | name |
| 151791005 | CV1399956 | single nucleotide variant | NM_021939.4(FKBP10):c.566C>T (p.Thr189Ile) | not provided [RCV001916819] | uncertain significance | 17 | 41818263 | 41818263 | Human | | name |
| 151890972 | CV1473186 | single nucleotide variant | NM_021939.4(FKBP10):c.836G>A (p.Cys279Tyr) | Inborn genetic diseases [RCV003164249]|not provided [RCV001888556] | uncertain significance | 17 | 41819318 | 41819318 | Human | 1 | name |
| 151846496 | CV1483789 | single nucleotide variant | NM_021939.4(FKBP10):c.622G>A (p.Gly208Ser) | not provided [RCV001903505] | uncertain significance | 17 | 41818422 | 41818422 | Human | | name |
| 151856334 | CV1487591 | single nucleotide variant | NM_021939.4(FKBP10):c.832G>C (p.Gly278Arg) | not provided [RCV001923444] | uncertain significance | 17 | 41819314 | 41819314 | Human | | name |
| 151778032 | CV1493254 | single nucleotide variant | NM_021939.4(FKBP10):c.802G>A (p.Val268Ile) | not provided [RCV001915612] | uncertain significance | 17 | 41819284 | 41819284 | Human | | name |
| 151869361 | CV1497675 | single nucleotide variant | NM_021939.4(FKBP10):c.445G>A (p.Val149Met) | not provided [RCV001960224] | uncertain significance | 17 | 41818142 | 41818142 | Human | | name |
| 151845830 | CV1501679 | single nucleotide variant | NM_021939.4(FKBP10):c.799G>A (p.Ala267Thr) | Inborn genetic diseases [RCV005331130]|not provided [RCV002015894] | likely benign|uncertain significance | 17 | 41819281 | 41819281 | Human | 1 | name |
| 151879606 | CV1506312 | single nucleotide variant | NM_021939.4(FKBP10):c.612C>G (p.Tyr204Ter) | not provided [RCV001886282] | pathogenic | 17 | 41818412 | 41818412 | Human | | name |
| 151717287 | CV1513228 | single nucleotide variant | NM_021939.4(FKBP10):c.450G>C (p.Trp150Cys) | not provided [RCV001890525] | uncertain significance | 17 | 41818147 | 41818147 | Human | | name |
| 153305746 | CV1688784 | single nucleotide variant | NM_021939.4(FKBP10):c.476G>A (p.Ser159Asn) | not specified [RCV002266524] | uncertain significance | 17 | 41818173 | 41818173 | Human | | name |
| 153346738 | CV1692253 | single nucleotide variant | NM_021939.4(FKBP10):c.958G>T (p.Gly320Cys) | not provided [RCV002272101] | uncertain significance | 17 | 41819570 | 41819570 | Human | | name |
| 153347058 | CV1694393 | single nucleotide variant | NM_021939.4(FKBP10):c.402T>G (p.Ile134Met) | Osteogenesis imperfecta [RCV002277790] | uncertain significance | 17 | 41818099 | 41818099 | Human | 1 | name |
| 153347060 | CV1694394 | single nucleotide variant | NM_021939.4(FKBP10):c.677G>A (p.Arg226Lys) | Inborn genetic diseases [RCV004617028]|Osteogenesis imperfecta [RCV002277791] | uncertain significance | 17 | 41818477 | 41818477 | Human | 2 | name |
| 155667858 | CV1770811 | single nucleotide variant | NM_021939.4(FKBP10):c.694C>T (p.Pro232Ser) | not provided [RCV002297174] | uncertain significance | 17 | 41818494 | 41818494 | Human | | name |
| 155666924 | CV1773405 | single nucleotide variant | NM_021939.4(FKBP10):c.602A>C (p.Tyr201Ser) | not provided [RCV002297117] | uncertain significance | 17 | 41818402 | 41818402 | Human | | name |
| 155796959 | CV1863087 | single nucleotide variant | NM_021939.4(FKBP10):c.385G>A (p.Gly129Ser) | Osteogenesis imperfecta type 11 [RCV002470361] | uncertain significance | 17 | 41817197 | 41817197 | Human | 1 | name |
| 156408047 | CV1873190 | single nucleotide variant | NM_021939.4(FKBP10):c.766G>A (p.Val256Ile) | not provided [RCV003071112] | uncertain significance | 17 | 41819248 | 41819248 | Human | | name |
| 156405047 | CV1883679 | single nucleotide variant | NM_021939.4(FKBP10):c.841C>T (p.Arg281Cys) | Inborn genetic diseases [RCV003294476]|not provided [RCV003069897] | uncertain significance | 17 | 41819323 | 41819323 | Human | 1 | name |
| 156359700 | CV1891535 | single nucleotide variant | NM_021939.4(FKBP10):c.830C>G (p.Pro277Arg) | Inborn genetic diseases [RCV003091619]|not provided [RCV003091620] | uncertain significance | 17 | 41819312 | 41819312 | Human | 1 | name |
| 156414601 | CV1908870 | single nucleotide variant | NM_021939.4(FKBP10):c.856G>A (p.Gly286Arg) | not provided [RCV002588701] | uncertain significance | 17 | 41819338 | 41819338 | Human | | name |
| 156050500 | CV1923885 | single nucleotide variant | NM_021939.4(FKBP10):c.613G>A (p.Val205Ile) | FKBP10-related disorder [RCV003918938]|Inborn genetic diseases [RCV002637918]|not provided [RCV002637919] | uncertain significance | 17 | 41818413 | 41818413 | Human | 2 | name , trait , alternate_id |
| 156280945 | CV1964377 | single nucleotide variant | NM_021939.4(FKBP10):c.562G>A (p.Gly188Ser) | not provided [RCV002577475] | uncertain significance | 17 | 41818259 | 41818259 | Human | | name |
| 156207912 | CV2000754 | single nucleotide variant | NM_021939.4(FKBP10):c.715G>A (p.Glu239Lys) | not provided [RCV002666735] | uncertain significance | 17 | 41818515 | 41818515 | Human | | name |
| 156199810 | CV2092439 | single nucleotide variant | NM_021939.4(FKBP10):c.971C>G (p.Pro324Arg) | Inborn genetic diseases [RCV005343523]|not provided [RCV002917746] | uncertain significance | 17 | 41819583 | 41819583 | Human | 1 | name |
| 156209414 | CV2106558 | single nucleotide variant | NM_021939.4(FKBP10):c.829C>A (p.Pro277Thr) | Inborn genetic diseases [RCV005343538]|not provided [RCV002957680] | uncertain significance | 17 | 41819311 | 41819311 | Human | 1 | name |
| 156120875 | CV2128521 | single nucleotide variant | NM_021939.4(FKBP10):c.923C>T (p.Ser308Phe) | not provided [RCV002953492] | uncertain significance | 17 | 41819535 | 41819535 | Human | | name |
| 156120185 | CV2150860 | single nucleotide variant | NM_021939.4(FKBP10):c.497A>G (p.His166Arg) | not provided [RCV003021766] | uncertain significance | 17 | 41818194 | 41818194 | Human | | name |
| 156140983 | CV2199899 | single nucleotide variant | NM_021939.4(FKBP10):c.427G>A (p.Asp143Asn) | Inborn genetic diseases [RCV002641275] | uncertain significance | 17 | 41818124 | 41818124 | Human | 1 | name |
| 156084943 | CV2205624 | single nucleotide variant | NM_021939.4(FKBP10):c.506G>A (p.Arg169His) | Inborn genetic diseases [RCV002661010] | uncertain significance | 17 | 41818203 | 41818203 | Human | 1 | name |
| 155966514 | CV2261921 | single nucleotide variant | NM_021939.4(FKBP10):c.607A>G (p.Thr203Ala) | Inborn genetic diseases [RCV002817320] | uncertain significance | 17 | 41818407 | 41818407 | Human | 1 | name |
| 156112712 | CV2267530 | single nucleotide variant | NM_021939.4(FKBP10):c.608C>A (p.Thr203Asn) | Inborn genetic diseases [RCV002848547] | uncertain significance | 17 | 41818408 | 41818408 | Human | 1 | name |
| 156269172 | CV2275679 | single nucleotide variant | NM_021939.4(FKBP10):c.466G>A (p.Val156Met) | Inborn genetic diseases [RCV002832200] | uncertain significance | 17 | 41818163 | 41818163 | Human | 1 | name |
| 156188635 | CV2302886 | single nucleotide variant | NM_021939.4(FKBP10):c.892A>T (p.Met298Leu) | Inborn genetic diseases [RCV002892403] | uncertain significance | 17 | 41819374 | 41819374 | Human | 1 | name |
| 156106691 | CV2307678 | single nucleotide variant | NM_021939.4(FKBP10):c.941A>G (p.Asn314Ser) | Inborn genetic diseases [RCV002888957] | uncertain significance | 17 | 41819553 | 41819553 | Human | 1 | name |
| 156084358 | CV2381979 | single nucleotide variant | NM_021939.4(FKBP10):c.508A>G (p.Met170Val) | Inborn genetic diseases [RCV002694697]|not provided [RCV005059428] | uncertain significance | 17 | 41818205 | 41818205 | Human | 1 | name |
| 243059086 | CV2410095 | single nucleotide variant | NM_021939.4(FKBP10):c.894G>A (p.Met298Ile) | not provided [RCV003147269] | uncertain significance | 17 | 41819376 | 41819376 | Human | | name |
| 243052764 | CV2410096 | single nucleotide variant | NM_021939.4(FKBP10):c.419T>G (p.Leu140Arg) | not provided [RCV003143982] | uncertain significance | 17 | 41818116 | 41818116 | Human | | name |
| 329399658 | CV2467588 | single nucleotide variant | NM_021939.4(FKBP10):c.566C>A (p.Thr189Asn) | Inborn genetic diseases [RCV003221051] | uncertain significance | 17 | 41818263 | 41818263 | Human | 1 | name |
| 11549099 | CV256170 | single nucleotide variant | NM_021939.4(FKBP10):c.590A>G (p.Lys197Arg) | Osteogenesis imperfecta type 11 [RCV000844870]|not provided [RCV001573716]|not specified [RCV000249973] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 17 | 41818390 | 41818390 | Human | 1 | name |
| 329848199 | CV2667818 | single nucleotide variant | NM_021939.4(FKBP10):c.731C>T (p.Thr244Ile) | not provided [RCV003229385] | uncertain significance | 17 | 41819213 | 41819213 | Human | | name |
| 329952400 | CV2671750 | single nucleotide variant | NM_021939.4(FKBP10):c.902C>A (p.Thr301Asn) | not provided [RCV003237146] | uncertain significance | 17 | 41819384 | 41819384 | Human | | name |
| 401727392 | CV2684627 | single nucleotide variant | NM_021939.4(FKBP10):c.964A>G (p.Ile322Val) | Inborn genetic diseases [RCV003270030] | uncertain significance | 17 | 41819576 | 41819576 | Human | 1 | name |
| 401726224 | CV2695612 | single nucleotide variant | NM_021939.4(FKBP10):c.697C>G (p.Pro233Ala) | Inborn genetic diseases [RCV003246295] | uncertain significance | 17 | 41818497 | 41818497 | Human | 1 | name |
| 401748671 | CV2704370 | single nucleotide variant | NM_021939.4(FKBP10):c.674A>G (p.Glu225Gly) | Inborn genetic diseases [RCV003294720] | uncertain significance | 17 | 41818474 | 41818474 | Human | 1 | name |
| 401775227 | CV2710481 | single nucleotide variant | NM_021939.4(FKBP10):c.431T>G (p.Val144Gly) | Inborn genetic diseases [RCV003262824] | uncertain significance | 17 | 41818128 | 41818128 | Human | 1 | name |
| 401749569 | CV2710811 | single nucleotide variant | NM_021939.4(FKBP10):c.932A>C (p.His311Pro) | Inborn genetic diseases [RCV003276488] | uncertain significance | 17 | 41819544 | 41819544 | Human | 1 | name |
| 11639935 | CV273008 | single nucleotide variant | NM_021939.4(FKBP10):c.429T>G (p.Asp143Glu) | not provided [RCV000329649] | uncertain significance | 17 | 41818126 | 41818126 | Human | | name |
| 401856629 | CV2752616 | deletion | NM_021939.4(FKBP10):c.1034del (p.Pro345fs) | Osteogenesis imperfecta type 11 [RCV003340954] | likely pathogenic | 17 | 41819641 | 41819641 | Human | 1 | name |
| 401893785 | CV2759819 | single nucleotide variant | NM_021939.4(FKBP10):c.392C>T (p.Ala131Val) | Inborn genetic diseases [RCV003356399] | uncertain significance | 17 | 41818089 | 41818089 | Human | 1 | name |
| 405131012 | CV2905164 | single nucleotide variant | NM_021939.4(FKBP10):c.310C>T (p.Arg104Ter) | not provided [RCV003560004] | pathogenic | 17 | 41817122 | 41817122 | Human | | name |
| 405243790 | CV2971733 | deletion | NM_021939.4(FKBP10):c.1161del (p.Pro388fs) | not provided [RCV003684677] | pathogenic | 17 | 41820365 | 41820365 | Human | | name |
| 402485758 | CV2998880 | deletion | NM_021939.4(FKBP10):c.1294del (p.Ala432fs) | not provided [RCV003687037] | pathogenic | 17 | 41820981 | 41820981 | Human | | name |
| 404991194 | CV2999286 | single nucleotide variant | NM_021939.4(FKBP10):c.875A>C (p.His292Pro) | not provided [RCV003692300] | uncertain significance | 17 | 41819357 | 41819357 | Human | | name |
| 405230122 | CV3072897 | deletion | NM_021939.4(FKBP10):c.1276del (p.Gln426fs) | Bruck syndrome 1 [RCV005415485]|not provided [RCV003734676] | pathogenic|likely pathogenic | 17 | 41820961 | 41820961 | Human | 1 | name |
| 405217885 | CV3161031 | deletion | NM_021939.4(FKBP10):c.1628del (p.Pro543fs) | not provided [RCV003863093] | pathogenic | 17 | 41822285 | 41822285 | Human | | name |
| 405259504 | CV3194867 | single nucleotide variant | NM_021939.4(FKBP10):c.346C>T (p.Arg116Cys) | FKBP10-related disorder [RCV003894254] | uncertain significance | 17 | 41817158 | 41817158 | Human | | name , trait , alternate_id |
| 405708579 | CV3225483 | single nucleotide variant | NM_021939.4(FKBP10):c.583T>C (p.Tyr195His) | Osteogenesis imperfecta type 11 [RCV003990539] | uncertain significance | 17 | 41818383 | 41818383 | Human | 1 | name |
| 405708756 | CV3225549 | single nucleotide variant | NM_021939.4(FKBP10):c.884G>T (p.Gly295Val) | Osteogenesis imperfecta type 11 [RCV003990606] | uncertain significance | 17 | 41819366 | 41819366 | Human | 1 | name |
| 405779986 | CV3260670 | single nucleotide variant | NM_021939.4(FKBP10):c.322G>A (p.Gly108Ser) | Inborn genetic diseases [RCV004386605] | uncertain significance | 17 | 41817134 | 41817134 | Human | 1 | name |
| 405779992 | CV3260671 | single nucleotide variant | NM_021939.4(FKBP10):c.588T>G (p.Ser196Arg) | Inborn genetic diseases [RCV004386606]|not provided [RCV004790661] | uncertain significance | 17 | 41818388 | 41818388 | Human | 1 | name |
| 407502775 | CV3435913 | single nucleotide variant | NM_021939.4(FKBP10):c.573C>G (p.Phe191Leu) | Inborn genetic diseases [RCV004623557] | uncertain significance | 17 | 41818270 | 41818270 | Human | 1 | name |
| 407502787 | CV3435917 | single nucleotide variant | NM_021939.4(FKBP10):c.539A>T (p.His180Leu) | Inborn genetic diseases [RCV004623561] | uncertain significance | 17 | 41818236 | 41818236 | Human | 1 | name |
| 407502795 | CV3435920 | single nucleotide variant | NM_021939.4(FKBP10):c.314G>C (p.Gly105Ala) | Inborn genetic diseases [RCV004623564] | uncertain significance | 17 | 41817126 | 41817126 | Human | 1 | name |
| 11631752 | CV344447 | single nucleotide variant | NM_021939.4(FKBP10):c.473T>C (p.Val158Ala) | Inborn genetic diseases [RCV002521106]|Osteogenesis imperfecta type 11 [RCV000386768]|not provided [RCV000596895] | uncertain significance | 17 | 41818170 | 41818170 | Human | 2 | name |
| 11628120 | CV344448 | single nucleotide variant | NM_021939.4(FKBP10):c.587G>A (p.Ser196Asn) | Osteogenesis imperfecta type 11 [RCV000295192]|not provided [RCV001850725]|not specified [RCV000507814] | uncertain significance | 17 | 41818387 | 41818387 | Human | 1 | name |
| 11628109 | CV345847 | single nucleotide variant | NM_021939.4(FKBP10):c.505C>G (p.Arg169Gly) | Osteogenesis imperfecta type 11 [RCV000294826] | uncertain significance | 17 | 41818202 | 41818202 | Human | 1 | name |
| 11630546 | CV345848 | single nucleotide variant | NM_021939.4(FKBP10):c.520G>A (p.Gly174Ser) | Bruck syndrome 1 [RCV001329235]|Inborn genetic diseases [RCV004021702]|Osteogenesis imperfecta type 11 [RCV000352068]|not provided [RCV002522960] | likely benign|uncertain significance | 17 | 41818217 | 41818217 | Human | 3 | name |
| 408375605 | CV3510331 | single nucleotide variant | NM_021939.4(FKBP10):c.479C>T (p.Thr160Ile) | FKBP10-related disorder [RCV004748201] | uncertain significance | 17 | 41818176 | 41818176 | Human | | name , trait , alternate_id |
| 597653913 | CV3669691 | single nucleotide variant | NM_021939.4(FKBP10):c.940A>G (p.Asn314Asp) | Inborn genetic diseases [RCV004975121] | uncertain significance | 17 | 41819552 | 41819552 | Human | 1 | name |
| 597653918 | CV3669692 | single nucleotide variant | NM_021939.4(FKBP10):c.815C>T (p.Thr272Met) | Inborn genetic diseases [RCV004975122] | uncertain significance | 17 | 41819297 | 41819297 | Human | 1 | name |
| 597653923 | CV3669693 | single nucleotide variant | NM_021939.4(FKBP10):c.865A>G (p.Met289Val) | Inborn genetic diseases [RCV004975123] | uncertain significance | 17 | 41819347 | 41819347 | Human | 1 | name |
| 597769719 | CV3709005 | single nucleotide variant | NM_021939.4(FKBP10):c.726T>G (p.Tyr242Ter) | Bruck syndrome 1 [RCV005020220] | likely pathogenic | 17 | 41818526 | 41818526 | Human | 1 | name |
| 597894262 | CV3744034 | single nucleotide variant | NM_021939.4(FKBP10):c.821A>T (p.Glu274Val) | not provided [RCV005071504] | uncertain significance | 17 | 41819303 | 41819303 | Human | | name |
| 597911267 | CV3770461 | duplication | NM_021939.4(FKBP10):c.1373dup (p.His459fs) | not provided [RCV005113762] | pathogenic | 17 | 41821058 | 41821059 | Human | | name |
| 598127723 | CV3882842 | single nucleotide variant | NM_021939.4(FKBP10):c.887C>T (p.Ser296Phe) | not provided [RCV005234373] | uncertain significance | 17 | 41819369 | 41819369 | Human | | name |
| 598125755 | CV3885926 | single nucleotide variant | NM_021939.4(FKBP10):c.327G>A (p.Met109Ile) | not provided [RCV005241729] | uncertain significance | 17 | 41817139 | 41817139 | Human | | name |
| 598200640 | CV3955869 | single nucleotide variant | NM_021939.4(FKBP10):c.909C>G (p.Phe303Leu) | Inborn genetic diseases [RCV005336687] | uncertain significance | 17 | 41819391 | 41819391 | Human | 1 | name |
| 598200657 | CV3955872 | single nucleotide variant | NM_021939.4(FKBP10):c.872A>G (p.Tyr291Cys) | Inborn genetic diseases [RCV005336690] | uncertain significance | 17 | 41819354 | 41819354 | Human | 1 | name |
| 8568476 | CV39590 | duplication | NM_021939.4(FKBP10):c.1276dup (p.Gln426fs) | Bruck syndrome 1 [RCV000023608]|Osteogenesis imperfecta type 11 [RCV003137541]|not provided [RCV003556079] | pathogenic | 17 | 41820960 | 41820961 | Human | 2 | name |
| 8568477 | CV39591 | single nucleotide variant | NM_021939.4(FKBP10):c.344G>A (p.Arg115Gln) | Bruck syndrome 1 [RCV000023609]|Osteogenesis imperfecta [RCV002281717]|not provided [RCV001852024] | pathogenic|likely pathogenic | 17 | 41817156 | 41817156 | Human | 2 | name |
| 12899365 | CV409926 | single nucleotide variant | NM_021939.4(FKBP10):c.506G>C (p.Arg169Pro) | not provided [RCV000480043] | uncertain significance | 17 | 41818203 | 41818203 | Human | | name |
| 13435800 | CV433570 | single nucleotide variant | NM_021939.4(FKBP10):c.829C>G (p.Pro277Ala) | FKBP10-related disorder [RCV004748794]|Osteogenesis imperfecta [RCV002279288]|not provided [RCV001865658]|not specified [RCV000506032] | uncertain significance | 17 | 41819311 | 41819311 | Human | 2 | name , trait , alternate_id |
| 8571206 | CV49909 | single nucleotide variant | NM_021939.4(FKBP10):c.337G>A (p.Glu113Lys) | Bruck syndrome 1 [RCV000034360]|Bruck syndrome 1 [RCV005016321]|Osteogenesis imperfecta [RCV004579534]|Osteogenesis imperfecta type 11 [RCV003137556]|not provided [RCV003556108] | pathogenic|likely pathogenic | 17 | 41817149 | 41817149 | Human | 3 | name |
| 13833470 | CV584705 | single nucleotide variant | NM_021939.4(FKBP10):c.422A>G (p.Tyr141Cys) | Inborn genetic diseases [RCV002535089]|not provided [RCV000728740] | uncertain significance | 17 | 41818119 | 41818119 | Human | 1 | name |
| 14393644 | CV610082 | single nucleotide variant | NM_021939.4(FKBP10):c.850G>A (p.Gly284Arg) | Osteogenesis imperfecta [RCV002279510]|Osteogenesis imperfecta type 11 [RCV001128129]|not provided [RCV000756168]|not specified [RCV003994103] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 17 | 41819332 | 41819332 | Human | 2 | name |
| 14746702 | CV671994 | single nucleotide variant | NM_021939.4(FKBP10):c.370G>T (p.Gly124Cys) | Osteogenesis imperfecta type 11 [RCV000844864] | likely pathogenic | 17 | 41817182 | 41817182 | Human | 1 | name |
| 15166990 | CV672348 | single nucleotide variant | NM_021939.4(FKBP10):c.773T>G (p.Leu258Arg) | Osteogenesis imperfecta type III [RCV000860013] | uncertain significance | 17 | 41819255 | 41819255 | Human | 1 | name |
| 15166991 | CV672349 | duplication | NM_021939.4(FKBP10):c.1024dup (p.Thr342fs) | Osteogenesis imperfecta type III [RCV000860014] | likely pathogenic | 17 | 41819635 | 41819636 | Human | 1 | name |
| 21075615 | CV797532 | single nucleotide variant | NM_021939.4(FKBP10):c.595G>A (p.Gly199Ser) | Inborn genetic diseases [RCV004973236]|not provided [RCV000996544] | uncertain significance | 17 | 41818395 | 41818395 | Human | 1 | name |
| 21405543 | CV800031 | single nucleotide variant | NM_021939.4(FKBP10):c.781G>A (p.Val261Met) | not provided [RCV004693430]|not specified [RCV001000708] | uncertain significance | 17 | 41819263 | 41819263 | Human | | name |
| 28902018 | CV877485 | single nucleotide variant | NM_021939.4(FKBP10):c.491C>T (p.Pro164Leu) | Osteogenesis imperfecta type 11 [RCV001125052]|not provided [RCV002070037] | likely benign|uncertain significance | 17 | 41818188 | 41818188 | Human | 1 | name |
| 28904308 | CV877488 | single nucleotide variant | NM_021939.4(FKBP10):c.616G>A (p.Gly206Ser) | Osteogenesis imperfecta type 11 [RCV001126030] | uncertain significance | 17 | 41818416 | 41818416 | Human | 1 | name |
| 8636163 | CV91387 | single nucleotide variant | NM_021939.3(FKBP10):c.569C>T (p.Ser190Phe) | Malignant melanoma [RCV000071485] | not provided | 17 | 41818266 | 41818266 | Human | | name |
| 41405522 | CV982082 | single nucleotide variant | NM_021939.4(FKBP10):c.311G>A (p.Arg104Gln) | not provided [RCV001813043] | uncertain significance | 17 | 41817123 | 41817123 | Human | | name |
| 41405064 | CV982083 | single nucleotide variant | NM_021939.4(FKBP10):c.505C>T (p.Arg169Cys) | not provided [RCV001812367] | uncertain significance | 17 | 41818202 | 41818202 | Human | | name |
| 126727414 | CV1018287 | single nucleotide variant | NM_021939.4(FKBP10):c.1029C>G (p.Ile343Met) | Osteogenesis imperfecta type 11 [RCV001332420] | uncertain significance | 17 | 41819641 | 41819641 | Human | 1 | name |
| 150541730 | CV1301578 | single nucleotide variant | NM_021939.4(FKBP10):c.1004T>C (p.Met335Thr) | not provided [RCV001761044] | uncertain significance | 17 | 41819616 | 41819616 | Human | | name |
| 150553644 | CV1303659 | single nucleotide variant | NM_021939.4(FKBP10):c.1015C>T (p.Arg339Trp) | Inborn genetic diseases [RCV002544134]|not provided [RCV001769349] | conflicting interpretations of pathogenicity|uncertain significance | 17 | 41819627 | 41819627 | Human | 1 | name |
| 151729622 | CV1335399 | single nucleotide variant | NM_021939.4(FKBP10):c.1244A>C (p.Gln415Pro) | not specified [RCV001844717] | uncertain significance | 17 | 41820449 | 41820449 | Human | | name |
| 151883692 | CV1338095 | single nucleotide variant | NM_021939.4(FKBP10):c.1453C>T (p.Arg485Trp) | not provided [RCV001962184] | uncertain significance | 17 | 41821707 | 41821707 | Human | | name |
| 151844320 | CV1339480 | single nucleotide variant | NM_021939.4(FKBP10):c.1322C>T (p.Thr441Met) | not provided [RCV001978084] | uncertain significance | 17 | 41821012 | 41821012 | Human | | name |
| 151752816 | CV1363633 | single nucleotide variant | NM_021939.4(FKBP10):c.1549G>T (p.Val517Phe) | Inborn genetic diseases [RCV005341090]|not provided [RCV001872436]|not specified [RCV002222733] | uncertain significance | 17 | 41821803 | 41821803 | Human | 1 | name |
| 151856573 | CV1363647 | single nucleotide variant | NM_021939.4(FKBP10):c.1003A>G (p.Met335Val) | Bruck syndrome 1 [RCV002478140]|Inborn genetic diseases [RCV004039725]|not provided [RCV001904764] | uncertain significance | 17 | 41819615 | 41819615 | Human | 2 | name |
| 151864590 | CV1431572 | single nucleotide variant | NM_021939.4(FKBP10):c.1588G>C (p.Val530Leu) | not provided [RCV001924446] | uncertain significance | 17 | 41822247 | 41822247 | Human | | name |
| 151768306 | CV1450777 | single nucleotide variant | NM_021939.4(FKBP10):c.1169A>T (p.Glu390Val) | not provided [RCV001929269] | uncertain significance | 17 | 41820374 | 41820374 | Human | | name |
| 151748896 | CV1460312 | single nucleotide variant | NM_021939.4(FKBP10):c.1538A>G (p.Lys513Arg) | not provided [RCV001894120] | uncertain significance | 17 | 41821792 | 41821792 | Human | | name |
| 151851411 | CV1460664 | single nucleotide variant | NM_021939.4(FKBP10):c.1075C>A (p.Pro359Thr) | not provided [RCV001904145] | uncertain significance | 17 | 41820280 | 41820280 | Human | | name |
| 151796854 | CV1487185 | single nucleotide variant | NM_021939.4(FKBP10):c.1046A>G (p.Tyr349Cys) | not provided [RCV001917340] | uncertain significance | 17 | 41819658 | 41819658 | Human | | name |
| 151721642 | CV1489532 | single nucleotide variant | NM_021939.4(FKBP10):c.1042G>A (p.Ala348Thr) | not provided [RCV001891193] | uncertain significance | 17 | 41819654 | 41819654 | Human | | name |
| 151741417 | CV1501041 | single nucleotide variant | NM_021939.4(FKBP10):c.1130C>T (p.Ala377Val) | FKBP10-related disorder [RCV003401947]|not provided [RCV001985272] | uncertain significance | 17 | 41820335 | 41820335 | Human | 1 | name , trait , alternate_id |
| 151744613 | CV1507323 | single nucleotide variant | NM_021939.4(FKBP10):c.1499A>G (p.Asp500Gly) | not provided [RCV001985589] | uncertain significance | 17 | 41821753 | 41821753 | Human | | name |
| 151820288 | CV1510433 | single nucleotide variant | NM_021939.4(FKBP10):c.1730G>A (p.Arg577Gln) | Inborn genetic diseases [RCV004043002]|not provided [RCV001934075] | uncertain significance | 17 | 41822389 | 41822389 | Human | 1 | name |
| 151709415 | CV1515000 | single nucleotide variant | NM_021939.4(FKBP10):c.1621C>T (p.Gln541Ter) | Bruck syndrome 1 [RCV005017026]|not provided [RCV002001645] | pathogenic|likely pathogenic | 17 | 41822280 | 41822280 | Human | 1 | name |
| 152979578 | CV1675639 | single nucleotide variant | NM_021939.4(FKBP10):c.1402C>T (p.Arg468Trp) | Inborn genetic diseases [RCV003164346]|Osteogenesis imperfecta type 11 [RCV002244229] | uncertain significance | 17 | 41821656 | 41821656 | Human | 2 | name |
| 10049755 | CV190898 | single nucleotide variant | NM_021939.4(FKBP10):c.1667G>A (p.Arg556His) | Bruck syndrome 1 [RCV000765353]|Bruck syndrome 1 [RCV001332422]|Inborn genetic diseases [RCV003165360]|Osteogenesis imperfecta type 11 [RCV000363348]|not provided [RCV000724446] | uncertain significance | 17 | 41822326 | 41822326 | Human | 3 | name |
| 156025232 | CV1922480 | single nucleotide variant | NM_021939.4(FKBP10):c.1276C>G (p.Gln426Glu) | not provided [RCV002636909] | uncertain significance | 17 | 41820966 | 41820966 | Human | | name |
| 156124044 | CV1953028 | single nucleotide variant | NM_021939.4(FKBP10):c.1034C>T (p.Pro345Leu) | Inborn genetic diseases [RCV003355863]|not provided [RCV002571977] | uncertain significance | 17 | 41819646 | 41819646 | Human | 1 | name |
| 10053287 | CV196060 | single nucleotide variant | NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr) | FKBP10-related disorder [RCV003977482]|Osteogenesis imperfecta [RCV002277430]|Osteogenesis imperfecta type 11 [RCV000303036]|not provided [RCV000890998]|not specified [RCV000180361] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 17 | 41820997 | 41820997 | Human | 2 | name , trait , alternate_id |
| 156384176 | CV1961093 | single nucleotide variant | NM_021939.4(FKBP10):c.1051G>A (p.Glu351Lys) | not provided [RCV002583371] | uncertain significance | 17 | 41819663 | 41819663 | Human | | name |
| 10053475 | CV196320 | single nucleotide variant | NM_021939.4(FKBP10):c.1550T>A (p.Val517Asp) | not provided [RCV000180675] | uncertain significance | 17 | 41821804 | 41821804 | Human | | name |
| 156111134 | CV1997031 | single nucleotide variant | NM_021939.4(FKBP10):c.1271C>T (p.Ala424Val) | not provided [RCV002662493] | uncertain significance | 17 | 41820961 | 41820961 | Human | | name |
| 156234966 | CV2157947 | single nucleotide variant | NM_021939.4(FKBP10):c.1021A>G (p.Ile341Val) | not provided [RCV003025787] | uncertain significance | 17 | 41819633 | 41819633 | Human | | name |
| 156148176 | CV2175171 | single nucleotide variant | NM_021939.4(FKBP10):c.1243C>T (p.Gln415Ter) | not provided [RCV003040280] | pathogenic | 17 | 41820448 | 41820448 | Human | | name |
| 156346262 | CV2191213 | single nucleotide variant | NM_021939.4(FKBP10):c.1116C>A (p.Asp372Glu) | not provided [RCV003048027] | uncertain significance | 17 | 41820321 | 41820321 | Human | | name |
| 156387238 | CV2221451 | single nucleotide variant | NM_021939.4(FKBP10):c.1087G>C (p.Val363Leu) | Inborn genetic diseases [RCV002723838] | uncertain significance | 17 | 41820292 | 41820292 | Human | 1 | name |
| 329366086 | CV2438088 | single nucleotide variant | NM_021939.4(FKBP10):c.1146C>G (p.Ile382Met) | Inborn genetic diseases [RCV003207559] | uncertain significance | 17 | 41820351 | 41820351 | Human | 1 | name |
| 329382849 | CV2445595 | single nucleotide variant | NM_021939.4(FKBP10):c.1102G>A (p.Val368Ile) | Inborn genetic diseases [RCV003176127] | uncertain significance | 17 | 41820307 | 41820307 | Human | 1 | name |
| 329954617 | CV2670558 | single nucleotide variant | NM_021939.4(FKBP10):c.1049G>C (p.Gly350Ala) | not provided [RCV003235825] | uncertain significance | 17 | 41819661 | 41819661 | Human | | name |
| 11645119 | CV268609 | single nucleotide variant | NM_021939.4(FKBP10):c.1208G>A (p.Arg403Gln) | not provided [RCV000263612] | uncertain significance | 17 | 41820413 | 41820413 | Human | | name |
| 11648508 | CV273636 | single nucleotide variant | NM_021939.4(FKBP10):c.1390G>A (p.Glu464Lys) | not provided [RCV000282357] | uncertain significance | 17 | 41821080 | 41821080 | Human | | name |
| 401877988 | CV2786899 | single nucleotide variant | NM_021939.4(FKBP10):c.1577T>A (p.Ile526Asn) | Inborn genetic diseases [RCV003384003] | uncertain significance | 17 | 41822236 | 41822236 | Human | 1 | name |
| 405238783 | CV3081346 | single nucleotide variant | NM_021939.4(FKBP10):c.1373C>T (p.Pro458Leu) | not provided [RCV003736434] | uncertain significance | 17 | 41821063 | 41821063 | Human | | name |
| 405779973 | CV3260668 | single nucleotide variant | NM_021939.4(FKBP10):c.1291G>A (p.Gly431Arg) | Inborn genetic diseases [RCV004386603] | uncertain significance | 17 | 41820981 | 41820981 | Human | 1 | name |
| 11619610 | CV338390 | single nucleotide variant | NM_021939.4(FKBP10):c.1613T>C (p.Met538Thr) | Osteogenesis imperfecta type 11 [RCV000327359]|not provided [RCV001859915] | uncertain significance | 17 | 41822272 | 41822272 | Human | 1 | name |
| 407502778 | CV3435914 | single nucleotide variant | NM_021939.4(FKBP10):c.1241C>T (p.Thr414Ile) | Inborn genetic diseases [RCV004623558] | uncertain significance | 17 | 41820446 | 41820446 | Human | 1 | name |
| 407502785 | CV3435916 | single nucleotide variant | NM_021939.4(FKBP10):c.1267G>A (p.Gly423Arg) | Inborn genetic diseases [RCV004623560] | uncertain significance | 17 | 41820957 | 41820957 | Human | 1 | name |
| 407502789 | CV3435918 | single nucleotide variant | NM_021939.4(FKBP10):c.1279G>C (p.Glu427Gln) | Inborn genetic diseases [RCV004623562] | uncertain significance | 17 | 41820969 | 41820969 | Human | 1 | name |
| 407502797 | CV3435921 | single nucleotide variant | NM_021939.4(FKBP10):c.1405G>A (p.Gly469Arg) | Inborn genetic diseases [RCV004623565] | uncertain significance | 17 | 41821659 | 41821659 | Human | 1 | name |
| 11632119 | CV344449 | single nucleotide variant | NM_021939.4(FKBP10):c.1016G>A (p.Arg339Gln) | Osteogenesis Imperfecta, Recessive [RCV000397996]|not provided [RCV001850726] | uncertain significance | 17 | 41819628 | 41819628 | Human | 1 | name |
| 11626689 | CV345861 | single nucleotide variant | NM_021939.4(FKBP10):c.1723G>A (p.Glu575Lys) | Osteogenesis imperfecta type 11 [RCV000268663]|not provided [RCV002521107] | uncertain significance | 17 | 41822382 | 41822382 | Human | 1 | name |
| 597653908 | CV3669690 | single nucleotide variant | NM_021939.4(FKBP10):c.1331A>G (p.Gln444Arg) | Inborn genetic diseases [RCV004975120] | uncertain significance | 17 | 41821021 | 41821021 | Human | 1 | name |
| 597953185 | CV3795484 | single nucleotide variant | NM_021939.4(FKBP10):c.1321A>G (p.Thr441Ala) | not provided [RCV005136494] | uncertain significance | 17 | 41821011 | 41821011 | Human | | name |
| 597907190 | CV3804156 | single nucleotide variant | NM_021939.4(FKBP10):c.1259A>G (p.His420Arg) | not provided [RCV005153702] | uncertain significance | 17 | 41820949 | 41820949 | Human | | name |
| 598125341 | CV3883944 | single nucleotide variant | NM_021939.4(FKBP10):c.1034C>G (p.Pro345Arg) | not provided [RCV005236299] | uncertain significance | 17 | 41819646 | 41819646 | Human | | name |
| 598200646 | CV3955870 | single nucleotide variant | NM_021939.4(FKBP10):c.1309G>A (p.Glu437Lys) | Inborn genetic diseases [RCV005336688] | uncertain significance | 17 | 41820999 | 41820999 | Human | 1 | name |
| 598200652 | CV3955871 | single nucleotide variant | NM_021939.4(FKBP10):c.1163C>T (p.Pro388Leu) | Inborn genetic diseases [RCV005336689] | uncertain significance | 17 | 41820368 | 41820368 | Human | 1 | name |
| 616934438 | CV4012443 | single nucleotide variant | NM_021939.4(FKBP10):c.1277A>G (p.Gln426Arg) | not specified [RCV005409480] | uncertain significance | 17 | 41820967 | 41820967 | Human | | name |
| 617153029 | CV4018668 | single nucleotide variant | NM_021939.4(FKBP10):c.1236C>A (p.Asp412Glu) | not specified [RCV005419360] | uncertain significance | 17 | 41820441 | 41820441 | Human | | name |
| 8570669 | CV48441 | single nucleotide variant | NM_021939.3(FKBP10):c.1207C>T (p.Arg403Ter) | Osteogenesis imperfecta type 12 [RCV000033069] | pathogenic | 17 | 41820412 | 41820412 | Human | 1 | name |
| 13519263 | CV491336 | single nucleotide variant | NM_021939.4(FKBP10):c.1160G>A (p.Arg387Gln) | not provided [RCV000597842]|not specified [RCV001000807] | uncertain significance | 17 | 41820365 | 41820365 | Human | | name |
| 14393643 | CV610083 | single nucleotide variant | NM_021939.4(FKBP10):c.1363A>G (p.Ile455Val) | FKBP10-related disorder [RCV003965560]|Osteogenesis imperfecta type 11 [RCV001122389]|not provided [RCV000756167] | benign|likely benign|uncertain significance | 17 | 41821053 | 41821053 | Human | 1 | name , trait , alternate_id |
| 14394172 | CV610084 | single nucleotide variant | NM_021939.4(FKBP10):c.1556C>T (p.Pro519Leu) | Osteogenesis imperfecta type 11 [RCV001125172]|not provided [RCV000757296] | uncertain significance | 17 | 41821810 | 41821810 | Human | 1 | name |
| 14746709 | CV671998 | single nucleotide variant | NM_021939.4(FKBP10):c.1522G>A (p.Asp508Asn) | Osteogenesis imperfecta type 11 [RCV000844874] | uncertain significance | 17 | 41821776 | 41821776 | Human | 1 | name |
| 15106596 | CV727174 | single nucleotide variant | NM_021939.4(FKBP10):c.1546G>A (p.Glu516Lys) | Bruck syndrome 1 [RCV002495402]|Osteogenesis imperfecta type 11 [RCV001125171]|not provided [RCV000893314] | benign|likely benign | 17 | 41821800 | 41821800 | Human | 2 | name |
| 21405387 | CV800033 | single nucleotide variant | NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu) | FKBP10-related disorder [RCV003906141]|Osteogenesis imperfecta [RCV002279698]|not provided [RCV001460849]|not specified [RCV001000309] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 17 | 41820461 | 41820461 | Human | 2 | name , trait , alternate_id |
| 28895201 | CV877490 | single nucleotide variant | NM_021939.4(FKBP10):c.1286C>T (p.Thr429Ile) | Osteogenesis imperfecta type 11 [RCV001122385] | uncertain significance | 17 | 41820976 | 41820976 | Human | 1 | name |
| 28895214 | CV877493 | single nucleotide variant | NM_021939.4(FKBP10):c.1366G>A (p.Val456Met) | Osteogenesis imperfecta type 11 [RCV001122390] | uncertain significance | 17 | 41821056 | 41821056 | Human | 1 | name |
| 28895217 | CV877494 | single nucleotide variant | NM_021939.4(FKBP10):c.1367T>C (p.Val456Ala) | Osteogenesis imperfecta type 11 [RCV001122391] | uncertain significance | 17 | 41821057 | 41821057 | Human | 1 | name |
| 28902321 | CV877495 | single nucleotide variant | NM_021939.4(FKBP10):c.1382C>T (p.Ala461Val) | Osteogenesis imperfecta type 11 [RCV001125167] | uncertain significance | 17 | 41821072 | 41821072 | Human | 1 | name |
| 28902327 | CV877496 | single nucleotide variant | NM_021939.4(FKBP10):c.1403G>A (p.Arg468Gln) | Osteogenesis imperfecta type 11 [RCV001125169] | uncertain significance | 17 | 41821657 | 41821657 | Human | 1 | name |
| 28902329 | CV877497 | single nucleotide variant | NM_021939.4(FKBP10):c.1454G>A (p.Arg485Gln) | Osteogenesis imperfecta type 11 [RCV001125170]|not provided [RCV002556713] | uncertain significance | 17 | 41821708 | 41821708 | Human | 1 | name |
| 28904568 | CV877498 | single nucleotide variant | NM_021939.4(FKBP10):c.1693G>A (p.Asp565Asn) | Osteogenesis imperfecta type 11 [RCV001126140]|not provided [RCV005056913] | uncertain significance | 17 | 41822352 | 41822352 | Human | 1 | name |
| 40815071 | CV971076 | single nucleotide variant | NM_021939.4(FKBP10):c.1149G>T (p.Arg383Ser) | Bruck syndrome 1 [RCV001262423]|not provided [RCV003145500] | uncertain significance | 17 | 41820354 | 41820354 | Human | 1 | name |
| 41407451 | CV982084 | single nucleotide variant | NM_021939.4(FKBP10):c.1207C>G (p.Arg403Gly) | not provided [RCV001810717]|not specified [RCV004690064] | uncertain significance | 17 | 41820412 | 41820412 | Human | | name |
| 41405044 | CV982086 | single nucleotide variant | NM_021939.4(FKBP10):c.1582G>T (p.Ala528Ser) | not provided [RCV001812350] | uncertain significance | 17 | 41822241 | 41822241 | Human | | name |
| 41405525 | CV982087 | single nucleotide variant | NM_021939.4(FKBP10):c.1640T>C (p.Ile547Thr) | not provided [RCV001813046] | uncertain significance | 17 | 41822299 | 41822299 | Human | | name |
| 8568475 | CV39589 | deletion | NM_021939.4(FKBP10):c.122_156del (p.Leu41fs) | Osteogenesis imperfecta type 12 [RCV000023607] | pathogenic | 17 | 41813152 | 41813186 | Human | 1 | name |
| 402473746 | CV2857919 | duplication | NM_021939.4(FKBP10):c.963_967dup (p.Ile323fs) | not provided [RCV003543013] | pathogenic | 17 | 41819573 | 41819574 | Human | | name |
| 405240124 | CV2990047 | deletion | NM_021939.4(FKBP10):c.910_914del (p.Asp304fs) | not provided [RCV003683883] | pathogenic | 17 | 41819389 | 41819393 | Human | | name |
| 405089689 | CV3025213 | duplication | NM_021939.4(FKBP10):c.591_598dup (p.Thr200fs) | not provided [RCV003699649] | pathogenic | 17 | 41818389 | 41818390 | Human | | name |
| 597769710 | CV3709007 | deletion | NM_021939.4(FKBP10):c.829_841del (p.Pro277fs) | Bruck syndrome 1 [RCV005020222] | likely pathogenic | 17 | 41819309 | 41819321 | Human | 1 | name |
| 10401288 | CV204645 | deletion | NM_021939.4(FKBP10):c.877_879del (p.Tyr293del) | Bruck syndrome 1 [RCV000190460]|Osteogenesis imperfecta [RCV003993877]|not provided [RCV000598565] | pathogenic | 17 | 41819357 | 41819359 | Human | 2 | name |
| 405084636 | CV3028215 | insertion | NM_021939.4(FKBP10):c.186_187insTG (p.Asp63fs) | not provided [RCV003699289] | pathogenic | 17 | 41813219 | 41813220 | Human | | name |
| 14691255 | CV619859 | duplication | NM_021939.4(FKBP10):c.890_897dup (p.Gly300Ter) | Bruck syndrome 1 [RCV001007839]|Bruck syndrome 1 [RCV005021157]|Osteogenesis imperfecta type 11 [RCV000778071] | pathogenic|likely pathogenic | 17 | 41819371 | 41819372 | Human | 2 | name |
| 10401466 | CV205304 | microsatellite | NM_021939.4(FKBP10):c.1343_1344del (p.Val448fs) | Inborn genetic diseases [RCV000190651]|not provided [RCV001726033] | pathogenic | 17 | 41821027 | 41821028 | Human | | name |
| 405227922 | CV2963711 | duplication | NM_021939.4(FKBP10):c.1487_1497dup (p.Asp500fs) | not provided [RCV003681749] | pathogenic | 17 | 41821739 | 41821740 | Human | | name |
| 405194191 | CV2985933 | duplication | NM_021939.4(FKBP10):c.1247_1251dup (p.Thr418fs) | not provided [RCV003706743] | pathogenic | 17 | 41820450 | 41820451 | Human | | name |
| 597769700 | CV3709009 | duplication | NM_021939.4(FKBP10):c.1499_1502dup (p.Ala503fs) | Bruck syndrome 1 [RCV005020224] | likely pathogenic | 17 | 41821752 | 41821753 | Human | 1 | name |
| 8568474 | CV39588 | duplication | NM_021939.4(FKBP10):c.1016_1023dup (p.Thr342fs) | Bruck syndrome 1 [RCV000023606]|FKBP10-related disorder [RCV003964811] | pathogenic | 17 | 41819627 | 41819628 | Human | 2 | name , trait , alternate_id |
| 151846447 | CV1423789 | indel | NM_021939.4(FKBP10):c.491_492delinsAA (p.Pro164Gln) | not provided [RCV001995396] | uncertain significance | 17 | 41818188 | 41818189 | Human | | name |
| 405855281 | CV3394043 | indel | NM_021939.4(FKBP10):c.1619_1623delinsT (p.Gly540fs) | Osteogenesis imperfecta type 11 [RCV004547269] | likely pathogenic | 17 | 41822278 | 41822282 | Human | | name |
| 8571190 | CV49863 | indel | NM_021939.4(FKBP10):c.1271_1272delinsA (p.Ala424fs) | Bruck syndrome 1 [RCV000034324]|Osteogenesis imperfecta type 12 [RCV000034359] | pathogenic | 17 | 41820961 | 41820962 | Human | | name |
| 402524170 | CV3015062 | insertion | NM_021939.4(FKBP10):c.151_152insACCCCACA (p.Ile51fs) | not provided [RCV003690519] | pathogenic | 17 | 41813180 | 41813181 | Human | | name |
| 8557490 | CV18571 | deletion | NM_021939.4(FKBP10):c.321_353del (p.Met107_Leu117del) | Osteogenesis imperfecta type 12 [RCV000003710]|not provided [RCV005089153] | pathogenic | 17 | 41817126 | 41817158 | Human | 1 | name |
| 15166992 | CV672347 | duplication | NM_021939.4(FKBP10):c.523_552dup (p.Asp175_Thr184dup) | Osteogenesis imperfecta type III [RCV000860015] | likely pathogenic | 17 | 41818218 | 41818219 | Human | 1 | name |
| 597672941 | CV3703370 | indel | NM_021939.4(FKBP10):c.1479_1481delinsTCAG (p.Leu494fs) | Osteogenesis imperfecta type 11 [RCV004823554] | likely pathogenic | 17 | 41821733 | 41821735 | Human | | name |
| 156152326 | CV2100357 | insertion | NM_021939.4(FKBP10):c.245+801_245+802insTGGGTGTGGGGCGCCTCATCACTGGCATGGACCGAGGCCTCATGGGCATGTGTGTCAACGAGCGGCGACGCCTCATTGTGCCTCCCCACCTGGGCTATGGGAGCATCGGCCTGGGTGAGA | not provided [RCV002872364] | likely benign | 17 | 41814080 | 41814081 | Human | | name |