| 8557112 | CV17982 | deletion | OSTM1, 2-BP DEL, 415AG | Osteopetrosis autosomal recessive 5 [RCV000003077]|Osteopetrosis, autosomal recessive 5 [RCV000003077] | pathogenic | | | | Human | | name |
| 11649127 | CV298684 | single nucleotide variant | NM_014028.4(OSTM1):c.-52G>T | Autosomal recessive osteopetrosis 5 [RCV000285438] | uncertain significance | 6 | 108074703 | 108074703 | Human | 1 | name |
| 11592881 | CV301121 | single nucleotide variant | NM_014028.4(OSTM1):c.-67G>T | Autosomal recessive osteopetrosis 5 [RCV000343224] | uncertain significance | 6 | 108074718 | 108074718 | Human | 1 | name |
| 11585308 | CV298676 | single nucleotide variant | NM_014028.4(OSTM1):c.*432T>G | Autosomal recessive osteopetrosis 5 [RCV000280038] | uncertain significance | 6 | 108044353 | 108044353 | Human | 1 | name |
| 11595600 | CV301086 | single nucleotide variant | NM_014028.4(OSTM1):c.*778T>G | Autosomal recessive osteopetrosis 5 [RCV000372152] | uncertain significance | 6 | 108044007 | 108044007 | Human | 1 | name |
| 11592271 | CV301093 | single nucleotide variant | NM_014028.4(OSTM1):c.*355A>G | Autosomal recessive osteopetrosis 5 [RCV000337222] | benign|uncertain significance | 6 | 108044430 | 108044430 | Human | 1 | name |
| 11652008 | CV301095 | single nucleotide variant | NM_014028.4(OSTM1):c.*291A>G | Autosomal recessive osteopetrosis 5 [RCV000302224] | uncertain significance | 6 | 108044494 | 108044494 | Human | 1 | name |
| 11592657 | CV301096 | single nucleotide variant | NM_014028.4(OSTM1):c.*212A>G | Autosomal recessive osteopetrosis 5 [RCV000340777] | benign|likely benign | 6 | 108044573 | 108044573 | Human | 1 | name |
| 11588917 | CV301105 | single nucleotide variant | NM_014028.4(OSTM1):c.*168T>G | Autosomal recessive osteopetrosis 5 [RCV000306614] | uncertain significance | 6 | 108044617 | 108044617 | Human | 1 | name |
| 11650842 | CV305525 | single nucleotide variant | NM_014028.4(OSTM1):c.*953C>T | Autosomal recessive osteopetrosis 5 [RCV000295325] | uncertain significance | 6 | 108043832 | 108043832 | Human | 1 | name |
| 11658856 | CV305528 | single nucleotide variant | NM_014028.4(OSTM1):c.*873A>G | Autosomal recessive osteopetrosis 5 [RCV000352548] | uncertain significance | 6 | 108043912 | 108043912 | Human | 1 | name |
| 11662987 | CV305529 | single nucleotide variant | NM_014028.4(OSTM1):c.*177A>G | Autosomal recessive osteopetrosis 5 [RCV000391319] | uncertain significance | 6 | 108044608 | 108044608 | Human | 1 | name |
| 11609088 | CV305531 | single nucleotide variant | NM_014028.4(OSTM1):c.*147G>T | Autosomal recessive osteopetrosis 5 [RCV000363578]|not provided [RCV004695898] | uncertain significance | 6 | 108044638 | 108044638 | Human | 1 | name |
| 11611188 | CV305637 | single nucleotide variant | NM_014028.4(OSTM1):c.*331A>G | Autosomal recessive osteopetrosis 5 [RCV000391311] | benign | 6 | 108044454 | 108044454 | Human | 1 | name |
| 28893478 | CV895169 | single nucleotide variant | NM_014028.4(OSTM1):c.*872T>C | Autosomal recessive osteopetrosis 5 [RCV001153552] | uncertain significance | 6 | 108043913 | 108043913 | Human | 1 | name |
| 28893481 | CV895170 | single nucleotide variant | NM_014028.4(OSTM1):c.*835G>T | Autosomal recessive osteopetrosis 5 [RCV001153553] | uncertain significance | 6 | 108043950 | 108043950 | Human | 1 | name |
| 28900263 | CV895171 | single nucleotide variant | NM_014028.4(OSTM1):c.*751C>T | Autosomal recessive osteopetrosis 5 [RCV001156174] | uncertain significance | 6 | 108044034 | 108044034 | Human | 1 | name |
| 28900264 | CV895172 | single nucleotide variant | NM_014028.4(OSTM1):c.*262C>G | Autosomal recessive osteopetrosis 5 [RCV001156175] | uncertain significance | 6 | 108044523 | 108044523 | Human | 1 | name |
| 151794478 | CV1354071 | single nucleotide variant | NM_014028.4(OSTM1):c.949+1G>C | not provided [RCV001990379] | uncertain significance | 6 | 108049252 | 108049252 | Human | | name |
| 151729222 | CV1515331 | single nucleotide variant | NM_014028.4(OSTM1):c.616-5T>C | not provided [RCV002041022] | uncertain significance | 6 | 108051203 | 108051203 | Human | | name |
| 8557111 | CV17981 | single nucleotide variant | NM_014028.4(OSTM1):c.949+5G>A | Autosomal recessive osteopetrosis 5 [RCV000003076] | pathogenic | 6 | 108049248 | 108049248 | Human | 1 | name |
| 156167318 | CV2045256 | single nucleotide variant | NM_014028.4(OSTM1):c.615+4T>C | not provided [RCV002741755] | uncertain significance | 6 | 108054486 | 108054486 | Human | | name |
| 405175877 | CV2915535 | single nucleotide variant | NM_014028.4(OSTM1):c.615+7T>C | not provided [RCV003563471] | likely benign | 6 | 108054483 | 108054483 | Human | | name |
| 405175720 | CV2955482 | single nucleotide variant | NM_014028.4(OSTM1):c.950-6A>G | not provided [RCV003675664] | likely benign | 6 | 108044846 | 108044846 | Human | | name |
| 405223647 | CV2982775 | single nucleotide variant | NM_014028.4(OSTM1):c.402+1G>A | not provided [RCV003681069] | likely pathogenic | 6 | 108074249 | 108074249 | Human | | name |
| 11585962 | CV298640 | single nucleotide variant | NM_014028.4(OSTM1):c.*2858A>G | Autosomal recessive osteopetrosis 5 [RCV000284353] | uncertain significance | 6 | 108041927 | 108041927 | Human | 1 | name |
| 11657511 | CV298641 | single nucleotide variant | NM_014028.4(OSTM1):c.*2773G>A | Autosomal recessive osteopetrosis 5 [RCV000341739] | uncertain significance | 6 | 108042012 | 108042012 | Human | 1 | name |
| 11663238 | CV298648 | deletion | NM_014028.4(OSTM1):c.*2517del | Osteopetrosis [RCV000393759] | uncertain significance | 6 | 108042268 | 108042268 | Human | 2 | name |
| 11635183 | CV298653 | single nucleotide variant | NM_014028.4(OSTM1):c.*2371G>A | Autosomal recessive osteopetrosis 5 [RCV000313244] | uncertain significance | 6 | 108042414 | 108042414 | Human | 1 | name |
| 11594101 | CV298655 | single nucleotide variant | NM_014028.4(OSTM1):c.*2329G>T | Autosomal recessive osteopetrosis 5 [RCV000355405] | benign | 6 | 108042456 | 108042456 | Human | 1 | name |
| 11582943 | CV298656 | single nucleotide variant | NM_014028.4(OSTM1):c.*2317A>C | Autosomal recessive osteopetrosis 5 [RCV000263090] | uncertain significance | 6 | 108042468 | 108042468 | Human | 1 | name |
| 11598590 | CV298664 | single nucleotide variant | NM_014028.4(OSTM1):c.*1574A>G | Autosomal recessive osteopetrosis 5 [RCV000407635] | benign|likely benign | 6 | 108043211 | 108043211 | Human | 1 | name |
| 11592197 | CV298666 | single nucleotide variant | NM_014028.4(OSTM1):c.*1455C>T | Autosomal recessive osteopetrosis 5 [RCV000336311] | uncertain significance | 6 | 108043330 | 108043330 | Human | 1 | name |
| 11583787 | CV298667 | single nucleotide variant | NM_014028.4(OSTM1):c.*1334T>C | Autosomal recessive osteopetrosis 5 [RCV000268721] | benign|likely benign | 6 | 108043451 | 108043451 | Human | 1 | name |
| 11584330 | CV298669 | single nucleotide variant | NM_014028.4(OSTM1):c.*1082G>A | Autosomal recessive osteopetrosis 5 [RCV000273148] | benign|likely benign | 6 | 108043703 | 108043703 | Human | 1 | name |
| 11590158 | CV301041 | single nucleotide variant | NM_014028.4(OSTM1):c.*3329A>G | Autosomal recessive osteopetrosis 5 [RCV000316391] | benign|likely benign | 6 | 108041456 | 108041456 | Human | 1 | name |
| 11595692 | CV301043 | single nucleotide variant | NM_014028.4(OSTM1):c.*3319T>G | Autosomal recessive osteopetrosis 5 [RCV000373240] | benign|likely benign | 6 | 108041466 | 108041466 | Human | 1 | name |
| 11590483 | CV301045 | single nucleotide variant | NM_014028.4(OSTM1):c.*2990T>C | Autosomal recessive osteopetrosis 5 [RCV000319751] | uncertain significance | 6 | 108041795 | 108041795 | Human | 1 | name |
| 11595964 | CV301047 | single nucleotide variant | NM_014028.4(OSTM1):c.*2887G>A | Autosomal recessive osteopetrosis 5 [RCV000376713] | benign|likely benign | 6 | 108041898 | 108041898 | Human | 1 | name |
| 11586437 | CV301050 | single nucleotide variant | NM_014028.4(OSTM1):c.*2547G>A | Autosomal recessive osteopetrosis 5 [RCV000287739] | benign|likely benign | 6 | 108042238 | 108042238 | Human | 1 | name |
| 11635878 | CV301051 | duplication | NM_014028.4(OSTM1):c.*2370dup | Osteopetrosis [RCV000405194]|not provided [RCV004695897] | uncertain significance | 6 | 108042414 | 108042415 | Human | 2 | name |
| 11595426 | CV301052 | single nucleotide variant | NM_014028.4(OSTM1):c.*2364A>G | Autosomal recessive osteopetrosis 5 [RCV000370346] | uncertain significance | 6 | 108042421 | 108042421 | Human | 1 | name |
| 11644291 | CV301053 | deletion | NM_014028.4(OSTM1):c.*2351del | Osteopetrosis [RCV000259310] | uncertain significance | 6 | 108042434 | 108042434 | Human | 2 | name |
| 11586364 | CV301054 | single nucleotide variant | NM_014028.4(OSTM1):c.*2277G>A | Autosomal recessive osteopetrosis 5 [RCV000287125] | uncertain significance | 6 | 108042508 | 108042508 | Human | 1 | name |
| 11587275 | CV301056 | single nucleotide variant | NM_014028.4(OSTM1):c.*1883T>C | Autosomal recessive osteopetrosis 5 [RCV000294002] | benign | 6 | 108042902 | 108042902 | Human | 1 | name |
| 11598232 | CV301059 | deletion | NM_014028.4(OSTM1):c.*1441del | Osteopetrosis [RCV000402959] | benign | 6 | 108043344 | 108043344 | Human | 2 | name |
| 11588574 | CV301061 | single nucleotide variant | NM_014028.4(OSTM1):c.*1367G>A | Autosomal recessive osteopetrosis 5 [RCV000303938] | benign|likely benign | 6 | 108043418 | 108043418 | Human | 1 | name |
| 11591152 | CV301076 | single nucleotide variant | NM_014028.4(OSTM1):c.*1205C>G | Autosomal recessive osteopetrosis 5 [RCV000326182] | uncertain significance | 6 | 108043580 | 108043580 | Human | 1 | name |
| 11591608 | CV301078 | single nucleotide variant | NM_014028.4(OSTM1):c.*1038A>G | Autosomal recessive osteopetrosis 5 [RCV000330533] | benign | 6 | 108043747 | 108043747 | Human | 1 | name |
| 11662583 | CV301085 | single nucleotide variant | NM_014028.4(OSTM1):c.*1023A>G | Autosomal recessive osteopetrosis 5 [RCV000387319] | uncertain significance | 6 | 108043762 | 108043762 | Human | 1 | name |
| 404997307 | CV3012459 | deletion | NM_014028.4(OSTM1):c.616-3del | not provided [RCV003692822] | benign | 6 | 108051201 | 108051201 | Human | | name |
| 405073200 | CV3034467 | single nucleotide variant | NM_014028.4(OSTM1):c.950-4C>G | not provided [RCV003698390] | likely benign | 6 | 108044844 | 108044844 | Human | | name |
| 405226974 | CV3039419 | single nucleotide variant | NM_014028.4(OSTM1):c.402+8C>G | not provided [RCV003710805] | likely benign | 6 | 108074242 | 108074242 | Human | | name |
| 11609381 | CV305472 | deletion | NM_014028.4(OSTM1):c.*2488del | Osteopetrosis [RCV000367230] | uncertain significance | 6 | 108042297 | 108042297 | Human | 2 | name |
| 11605519 | CV305473 | single nucleotide variant | NM_014028.4(OSTM1):c.*2301A>G | Autosomal recessive osteopetrosis 5 [RCV000320564] | benign | 6 | 108042484 | 108042484 | Human | 1 | name |
| 11610516 | CV305488 | single nucleotide variant | NM_014028.4(OSTM1):c.*2138G>T | Autosomal recessive osteopetrosis 5 [RCV000382614] | benign|uncertain significance | 6 | 108042647 | 108042647 | Human | 1 | name |
| 11607812 | CV305489 | single nucleotide variant | NM_014028.4(OSTM1):c.*2035A>G | Autosomal recessive osteopetrosis 5 [RCV000347673] | uncertain significance | 6 | 108042750 | 108042750 | Human | 1 | name |
| 11664016 | CV305495 | duplication | NM_014028.4(OSTM1):c.*1932dup | Osteopetrosis [RCV000401585] | uncertain significance | 6 | 108042852 | 108042853 | Human | 2 | name |
| 11651263 | CV305510 | single nucleotide variant | NM_014028.4(OSTM1):c.*1469G>A | Autosomal recessive osteopetrosis 5 [RCV000297769] | uncertain significance | 6 | 108043316 | 108043316 | Human | 1 | name |
| 11603608 | CV305517 | single nucleotide variant | NM_014028.4(OSTM1):c.*1427A>G | Autosomal recessive osteopetrosis 5 [RCV000301507] | benign|likely benign | 6 | 108043358 | 108043358 | Human | 1 | name |
| 11608707 | CV305520 | single nucleotide variant | NM_014028.4(OSTM1):c.*1407A>G | Autosomal recessive osteopetrosis 5 [RCV000358535] | benign | 6 | 108043378 | 108043378 | Human | 1 | name |
| 11645620 | CV305521 | single nucleotide variant | NM_014028.4(OSTM1):c.*1399T>A | Autosomal recessive osteopetrosis 5 [RCV000266247] | uncertain significance | 6 | 108043386 | 108043386 | Human | 1 | name |
| 11601284 | CV305596 | single nucleotide variant | NM_014028.4(OSTM1):c.*3192A>C | Autosomal recessive osteopetrosis 5 [RCV000280980] | likely benign|uncertain significance | 6 | 108041593 | 108041593 | Human | 1 | name |
| 11611345 | CV305597 | single nucleotide variant | NM_014028.4(OSTM1):c.*2755A>G | Autosomal recessive osteopetrosis 5 [RCV000393768] | benign|likely benign | 6 | 108042030 | 108042030 | Human | 1 | name |
| 11605205 | CV305598 | single nucleotide variant | NM_014028.4(OSTM1):c.*2344C>G | Autosomal recessive osteopetrosis 5 [RCV000316918] | benign | 6 | 108042441 | 108042441 | Human | 1 | name |
| 11610273 | CV305604 | single nucleotide variant | NM_014028.4(OSTM1):c.*2283T>C | Autosomal recessive osteopetrosis 5 [RCV000379201] | benign | 6 | 108042502 | 108042502 | Human | 1 | name |
| 11605948 | CV305620 | single nucleotide variant | NM_014028.4(OSTM1):c.*2145A>T | Autosomal recessive osteopetrosis 5 [RCV000325628] | uncertain significance | 6 | 108042640 | 108042640 | Human | 1 | name |
| 11602362 | CV305622 | single nucleotide variant | NM_014028.4(OSTM1):c.*2053C>T | Autosomal recessive osteopetrosis 5 [RCV000290425] | benign|likely benign | 6 | 108042732 | 108042732 | Human | 1 | name |
| 11658780 | CV305628 | single nucleotide variant | NM_014028.4(OSTM1):c.*1634A>G | Autosomal recessive osteopetrosis 5 [RCV000351596] | uncertain significance | 6 | 108043151 | 108043151 | Human | 1 | name |
| 11608897 | CV305629 | single nucleotide variant | NM_014028.4(OSTM1):c.*1352A>G | Autosomal recessive osteopetrosis 5 [RCV000360961] | benign|likely benign | 6 | 108043433 | 108043433 | Human | 1 | name |
| 11610570 | CV305631 | single nucleotide variant | NM_014028.4(OSTM1):c.*1161G>A | Autosomal recessive osteopetrosis 5 [RCV000383129] | benign|likely benign | 6 | 108043624 | 108043624 | Human | 1 | name |
| 405217185 | CV3124636 | single nucleotide variant | NM_014028.4(OSTM1):c.616-8C>T | not provided [RCV003823998] | likely benign | 6 | 108051206 | 108051206 | Human | | name |
| 405227032 | CV3169445 | single nucleotide variant | NM_014028.4(OSTM1):c.784-4C>G | not provided [RCV003864469] | likely benign | 6 | 108049422 | 108049422 | Human | | name |
| 597848527 | CV3736840 | single nucleotide variant | NM_014028.4(OSTM1):c.517+1G>T | not provided [RCV005065999] | likely pathogenic | 6 | 108064184 | 108064184 | Human | | name |
| 597945196 | CV3755318 | single nucleotide variant | NM_014028.4(OSTM1):c.402+8C>T | not provided [RCV005078327] | likely benign | 6 | 108074242 | 108074242 | Human | | name |
| 597918566 | CV3768065 | single nucleotide variant | NM_014028.4(OSTM1):c.783+8C>A | not provided [RCV005114866] | likely benign | 6 | 108051023 | 108051023 | Human | | name |
| 13508792 | CV481434 | single nucleotide variant | NM_014028.4(OSTM1):c.783+5G>T | Autosomal recessive osteopetrosis 5 [RCV000578346] | pathogenic | 6 | 108051026 | 108051026 | Human | 1 | name |
| 15165599 | CV779128 | single nucleotide variant | NM_014028.4(OSTM1):c.615+8A>G | Autosomal recessive osteopetrosis 5 [RCV001157854]|not provided [RCV000970985] | benign|likely benign | 6 | 108054482 | 108054482 | Human | 1 | name |
| 28899700 | CV895151 | single nucleotide variant | NM_014028.4(OSTM1):c.*3280T>C | Autosomal recessive osteopetrosis 5 [RCV001155934] | uncertain significance | 6 | 108041505 | 108041505 | Human | 1 | name |
| 28899703 | CV895152 | single nucleotide variant | NM_014028.4(OSTM1):c.*3256A>G | Autosomal recessive osteopetrosis 5 [RCV001155935] | uncertain significance | 6 | 108041529 | 108041529 | Human | 1 | name |
| 28903629 | CV895153 | single nucleotide variant | NM_014028.4(OSTM1):c.*3186T>C | Autosomal recessive osteopetrosis 5 [RCV001157638] | uncertain significance | 6 | 108041599 | 108041599 | Human | 1 | name |
| 28903632 | CV895154 | single nucleotide variant | NM_014028.4(OSTM1):c.*3060G>A | Autosomal recessive osteopetrosis 5 [RCV001157639] | uncertain significance | 6 | 108041725 | 108041725 | Human | 1 | name |
| 28903633 | CV895155 | single nucleotide variant | NM_014028.4(OSTM1):c.*2799A>G | Autosomal recessive osteopetrosis 5 [RCV001157640] | uncertain significance | 6 | 108041986 | 108041986 | Human | 1 | name |
| 28889675 | CV895156 | single nucleotide variant | NM_014028.4(OSTM1):c.*2769G>T | Autosomal recessive osteopetrosis 5 [RCV001152173] | uncertain significance | 6 | 108042016 | 108042016 | Human | 1 | name |
| 28889677 | CV895157 | single nucleotide variant | NM_014028.4(OSTM1):c.*2707C>T | Autosomal recessive osteopetrosis 5 [RCV001152174] | uncertain significance | 6 | 108042078 | 108042078 | Human | 1 | name |
| 28889679 | CV895158 | single nucleotide variant | NM_014028.4(OSTM1):c.*2487T>A | Autosomal recessive osteopetrosis 5 [RCV001152175] | uncertain significance | 6 | 108042298 | 108042298 | Human | 1 | name |
| 28889684 | CV895159 | single nucleotide variant | NM_014028.4(OSTM1):c.*2366A>G | Autosomal recessive osteopetrosis 5 [RCV001152176] | likely benign | 6 | 108042419 | 108042419 | Human | 1 | name |
| 28893214 | CV895160 | single nucleotide variant | NM_014028.4(OSTM1):c.*2362A>G | Autosomal recessive osteopetrosis 5 [RCV001153450]|not provided [RCV004694960] | uncertain significance | 6 | 108042423 | 108042423 | Human | 1 | name |
| 28893219 | CV895161 | single nucleotide variant | NM_014028.4(OSTM1):c.*2276C>T | Autosomal recessive osteopetrosis 5 [RCV001153451] | uncertain significance | 6 | 108042509 | 108042509 | Human | 1 | name |
| 28899945 | CV895162 | single nucleotide variant | NM_014028.4(OSTM1):c.*2276C>A | Autosomal recessive osteopetrosis 5 [RCV001156038] | likely benign | 6 | 108042509 | 108042509 | Human | 1 | name |
| 28899947 | CV895163 | single nucleotide variant | NM_014028.4(OSTM1):c.*2195T>G | Autosomal recessive osteopetrosis 5 [RCV001156039] | uncertain significance | 6 | 108042590 | 108042590 | Human | 1 | name |
| 28899950 | CV895164 | single nucleotide variant | NM_014028.4(OSTM1):c.*1844T>G | Autosomal recessive osteopetrosis 5 [RCV001156040] | uncertain significance | 6 | 108042941 | 108042941 | Human | 1 | name |
| 28889955 | CV895165 | single nucleotide variant | NM_014028.4(OSTM1):c.*1166A>G | Autosomal recessive osteopetrosis 5 [RCV001152273] | uncertain significance | 6 | 108043619 | 108043619 | Human | 1 | name |
| 28889957 | CV895166 | single nucleotide variant | NM_014028.4(OSTM1):c.*1085T>G | Autosomal recessive osteopetrosis 5 [RCV001152274] | uncertain significance | 6 | 108043700 | 108043700 | Human | 1 | name |
| 28889961 | CV895167 | single nucleotide variant | NM_014028.4(OSTM1):c.*1045T>C | Autosomal recessive osteopetrosis 5 [RCV001152275] | uncertain significance | 6 | 108043740 | 108043740 | Human | 1 | name |
| 28893474 | CV895168 | single nucleotide variant | NM_014028.4(OSTM1):c.*1007G>A | Autosomal recessive osteopetrosis 5 [RCV001153551] | uncertain significance | 6 | 108043778 | 108043778 | Human | 1 | name |
| 150467001 | CV1240504 | single nucleotide variant | NM_014028.4(OSTM1):c.615+21A>G | not provided [RCV001650265] | benign | 6 | 108054469 | 108054469 | Human | | name |
| 150469508 | CV1243169 | single nucleotide variant | NM_014028.4(OSTM1):c.783+27C>G | not provided [RCV001650688] | benign | 6 | 108051004 | 108051004 | Human | | name |
| 152111688 | CV1520422 | single nucleotide variant | NM_014028.4(OSTM1):c.950-12T>G | not provided [RCV002196858] | likely benign | 6 | 108044852 | 108044852 | Human | | name |
| 152051199 | CV1527906 | single nucleotide variant | NM_014028.4(OSTM1):c.402+16C>T | not provided [RCV002089182] | likely benign | 6 | 108074234 | 108074234 | Human | | name |
| 152169471 | CV1529225 | single nucleotide variant | NM_014028.4(OSTM1):c.615+16T>C | not provided [RCV002161457] | likely benign | 6 | 108054474 | 108054474 | Human | | name |
| 152086303 | CV1531704 | single nucleotide variant | NM_014028.4(OSTM1):c.615+18T>C | not provided [RCV002077028] | likely benign | 6 | 108054472 | 108054472 | Human | | name |
| 152115995 | CV1646429 | single nucleotide variant | NM_014028.4(OSTM1):c.949+14A>G | not provided [RCV002135102] | likely benign | 6 | 108049239 | 108049239 | Human | | name |
| 156239742 | CV2053037 | single nucleotide variant | NM_014028.4(OSTM1):c.403-13C>A | not provided [RCV002791307] | likely benign | 6 | 108064312 | 108064312 | Human | | name |
| 156302717 | CV2189782 | single nucleotide variant | NM_014028.4(OSTM1):c.783+18G>A | not provided [RCV003062037] | likely benign | 6 | 108051013 | 108051013 | Human | | name |
| 405088136 | CV2862321 | single nucleotide variant | NM_014028.4(OSTM1):c.783+20T>A | not provided [RCV003549635] | likely benign | 6 | 108051011 | 108051011 | Human | | name |
| 405227195 | CV2889052 | single nucleotide variant | NM_014028.4(OSTM1):c.949+15A>G | not provided [RCV003554870] | likely benign | 6 | 108049238 | 108049238 | Human | | name |
| 405168663 | CV2901025 | single nucleotide variant | NM_014028.4(OSTM1):c.518-11T>G | not provided [RCV003562889] | likely benign | 6 | 108054598 | 108054598 | Human | | name |
| 405222767 | CV2908506 | duplication | NM_014028.4(OSTM1):c.783+11dup | not provided [RCV003568686] | likely benign | 6 | 108051019 | 108051020 | Human | | name |
| 402477166 | CV2917131 | single nucleotide variant | NM_014028.4(OSTM1):c.784-16T>C | not provided [RCV003571552] | likely benign | 6 | 108049434 | 108049434 | Human | | name |
| 405184176 | CV2920267 | single nucleotide variant | NM_014028.4(OSTM1):c.402+20C>T | not provided [RCV003564232] | likely benign | 6 | 108074230 | 108074230 | Human | | name |
| 405035206 | CV2923474 | single nucleotide variant | NM_014028.4(OSTM1):c.518-20T>C | not provided [RCV003578644] | likely benign | 6 | 108054607 | 108054607 | Human | | name |
| 402503751 | CV2937827 | single nucleotide variant | NM_014028.4(OSTM1):c.616-19T>C | not provided [RCV003661847] | likely benign | 6 | 108051217 | 108051217 | Human | | name |
| 405115489 | CV2951479 | single nucleotide variant | NM_014028.4(OSTM1):c.616-20A>G | not provided [RCV003670838] | likely benign | 6 | 108051218 | 108051218 | Human | | name |
| 405160207 | CV2961169 | single nucleotide variant | NM_014028.4(OSTM1):c.518-11T>C | not provided [RCV003670586] | likely benign | 6 | 108054598 | 108054598 | Human | | name |
| 405188560 | CV2977783 | single nucleotide variant | NM_014028.4(OSTM1):c.950-20A>T | not provided [RCV003706207] | likely benign | 6 | 108044860 | 108044860 | Human | | name |
| 404981529 | CV2986119 | duplication | NM_014028.4(OSTM1):c.783+15dup | not provided [RCV003691308] | likely benign | 6 | 108051015 | 108051016 | Human | | name |
| 405120254 | CV2993883 | single nucleotide variant | NM_014028.4(OSTM1):c.950-16C>G | not provided [RCV003723739] | likely benign | 6 | 108044856 | 108044856 | Human | | name |
| 404992799 | CV2999420 | single nucleotide variant | NM_014028.4(OSTM1):c.615+17A>G | not provided [RCV003692369] | likely benign | 6 | 108054473 | 108054473 | Human | | name |
| 11595161 | CV301117 | single nucleotide variant | NM_014028.4(OSTM1):c.784-10C>G | Autosomal recessive osteopetrosis 5 [RCV000367294]|not provided [RCV002524461] | likely benign|uncertain significance | 6 | 108049428 | 108049428 | Human | 1 | name |
| 402490548 | CV3011695 | single nucleotide variant | NM_014028.4(OSTM1):c.616-10G>T | not provided [RCV003687452] | likely benign | 6 | 108051208 | 108051208 | Human | | name |
| 404997338 | CV3012463 | deletion | NM_014028.4(OSTM1):c.616-14del | not provided [RCV003692825] | likely benign | 6 | 108051212 | 108051212 | Human | | name |
| 402524842 | CV3015074 | single nucleotide variant | NM_014028.4(OSTM1):c.518-20T>G | not provided [RCV003690524] | likely benign | 6 | 108054607 | 108054607 | Human | | name |
| 405125178 | CV3021175 | single nucleotide variant | NM_014028.4(OSTM1):c.518-18T>C | not provided [RCV003701110] | likely benign | 6 | 108054605 | 108054605 | Human | | name |
| 405174792 | CV3026979 | single nucleotide variant | NM_014028.4(OSTM1):c.403-17T>C | not provided [RCV003704928] | likely benign | 6 | 108064316 | 108064316 | Human | | name |
| 405086129 | CV3028468 | single nucleotide variant | NM_014028.4(OSTM1):c.949+12A>G | not provided [RCV003699413] | likely benign | 6 | 108049241 | 108049241 | Human | | name |
| 405203564 | CV3036387 | single nucleotide variant | NM_014028.4(OSTM1):c.517+10T>C | not provided [RCV003707648] | likely benign | 6 | 108064175 | 108064175 | Human | | name |
| 405201711 | CV3041342 | single nucleotide variant | NM_014028.4(OSTM1):c.615+15A>G | not provided [RCV003707450] | likely benign | 6 | 108054475 | 108054475 | Human | | name |
| 11646553 | CV305638 | single nucleotide variant | NM_014028.4(OSTM1):c.950-12T>C | Autosomal recessive osteopetrosis 5 [RCV000271331]|not provided [RCV003698780] | likely benign|uncertain significance | 6 | 108044852 | 108044852 | Human | 1 | name |
| 405043547 | CV3141253 | single nucleotide variant | NM_014028.4(OSTM1):c.784-10C>T | not provided [RCV003831546] | likely benign | 6 | 108049428 | 108049428 | Human | | name |
| 405233893 | CV3145120 | single nucleotide variant | NM_014028.4(OSTM1):c.784-17G>T | not provided [RCV003853377] | likely benign | 6 | 108049435 | 108049435 | Human | | name |
| 405143438 | CV3155433 | single nucleotide variant | NM_014028.4(OSTM1):c.950-16C>A | not provided [RCV003855671] | likely benign | 6 | 108044856 | 108044856 | Human | | name |
| 597885045 | CV3741637 | single nucleotide variant | NM_014028.4(OSTM1):c.784-18T>C | not provided [RCV005070356] | likely benign | 6 | 108049436 | 108049436 | Human | | name |
| 597881386 | CV3786920 | single nucleotide variant | NM_014028.4(OSTM1):c.402+19C>T | not provided [RCV005123996] | likely benign | 6 | 108074231 | 108074231 | Human | | name |
| 597871641 | CV3805170 | single nucleotide variant | NM_014028.4(OSTM1):c.517+11C>T | not provided [RCV005148448] | likely benign | 6 | 108064174 | 108064174 | Human | | name |
| 597836062 | CV3828351 | single nucleotide variant | NM_014028.4(OSTM1):c.949+13C>T | not provided [RCV005171243] | likely benign | 6 | 108049240 | 108049240 | Human | | name |
| 597833138 | CV3831467 | single nucleotide variant | NM_014028.4(OSTM1):c.517+11C>G | not provided [RCV005170669] | likely benign | 6 | 108064174 | 108064174 | Human | | name |
| 150470120 | CV1219188 | single nucleotide variant | NM_014028.4(OSTM1):c.615+226A>C | not provided [RCV001614940] | benign | 6 | 108054264 | 108054264 | Human | | name |
| 150431278 | CV1235394 | single nucleotide variant | NM_014028.4(OSTM1):c.615+113A>G | not provided [RCV001641764] | benign | 6 | 108054377 | 108054377 | Human | | name |
| 150431701 | CV1236496 | single nucleotide variant | NM_014028.4(OSTM1):c.402+267G>C | not provided [RCV001641900] | benign | 6 | 108073983 | 108073983 | Human | | name |
| 150471607 | CV1259149 | single nucleotide variant | NM_014028.4(OSTM1):c.518-255G>A | not provided [RCV001684394] | benign | 6 | 108054842 | 108054842 | Human | | name |
| 150474777 | CV1278929 | single nucleotide variant | NM_014028.4(OSTM1):c.950-166G>C | not provided [RCV001713746] | benign | 6 | 108045006 | 108045006 | Human | | name |
| 402498917 | CV2926651 | duplication | NM_014028.4(OSTM1):c.402_402+1dup | not provided [RCV003573788] | pathogenic | 6 | 108074248 | 108074249 | Human | | name |
| 152107512 | CV1577924 | single nucleotide variant | NM_014028.4(OSTM1):c.6G>A (p.Glu2=) | not provided [RCV002096379] | likely benign | 6 | 108074646 | 108074646 | Human | | name |
| 156094258 | CV2167252 | single nucleotide variant | NM_014028.4(OSTM1):c.9G>C (p.Pro3=) | not provided [RCV003038331] | likely benign | 6 | 108074643 | 108074643 | Human | | name |
| 11657957 | CV298645 | deletion | NM_014028.4(OSTM1):c.*2517_*2518del | Osteopetrosis [RCV000345276] | uncertain significance | 6 | 108042267 | 108042268 | Human | 2 | name |
| 11589338 | CV298649 | deletion | NM_014028.4(OSTM1):c.*2515_*2516del | Osteopetrosis [RCV000310186]|not provided [RCV004695896] | uncertain significance | 6 | 108042269 | 108042270 | Human | 2 | name |
| 151726081 | CV1438077 | single nucleotide variant | NM_014028.4(OSTM1):c.12C>T (p.Gly4=) | not provided [RCV001891734] | likely benign|uncertain significance | 6 | 108074640 | 108074640 | Human | | name |
| 152060575 | CV1557329 | single nucleotide variant | NM_014028.4(OSTM1):c.12C>A (p.Gly4=) | not provided [RCV002146724] | likely benign | 6 | 108074640 | 108074640 | Human | | name |
| 405154834 | CV2950764 | deletion | NM_014028.4(OSTM1):c.517+7_517+10del | not provided [RCV003670299] | likely benign | 6 | 108064175 | 108064178 | Human | | name |
| 127246193 | CV1094719 | single nucleotide variant | NM_014028.4(OSTM1):c.87C>G (p.Ala29=) | not provided [RCV001424477] | likely benign | 6 | 108074565 | 108074565 | Human | | name |
| 151760989 | CV1459586 | single nucleotide variant | NM_014028.4(OSTM1):c.78G>A (p.Ser26=) | not provided [RCV002044274] | likely benign|uncertain significance | 6 | 108074574 | 108074574 | Human | | name |
| 151876514 | CV1508118 | single nucleotide variant | NM_014028.4(OSTM1):c.88C>T (p.Leu30=) | not provided [RCV001961108] | likely benign | 6 | 108074564 | 108074564 | Human | | name |
| 152089713 | CV1550452 | single nucleotide variant | NM_014028.4(OSTM1):c.39G>T (p.Ser13=) | not provided [RCV002131891] | likely benign | 6 | 108074613 | 108074613 | Human | | name |
| 152062092 | CV1594443 | single nucleotide variant | NM_014028.4(OSTM1):c.72G>A (p.Leu24=) | OSTM1-related disorder [RCV003971017]|not provided [RCV002110234] | likely benign | 6 | 108074580 | 108074580 | Human | 1 | name , trait , alternate_id |
| 152085044 | CV1617189 | single nucleotide variant | NM_014028.4(OSTM1):c.69G>T (p.Leu23=) | not provided [RCV002076873] | likely benign | 6 | 108074583 | 108074583 | Human | | name |
| 152174735 | CV1663406 | single nucleotide variant | NM_014028.4(OSTM1):c.99C>G (p.Leu33=) | not provided [RCV002144535] | likely benign | 6 | 108074553 | 108074553 | Human | | name |
| 156008476 | CV2083063 | single nucleotide variant | NM_014028.4(OSTM1):c.66G>T (p.Leu22=) | not provided [RCV002865973] | likely benign | 6 | 108074586 | 108074586 | Human | | name |
| 156031682 | CV2135498 | single nucleotide variant | NM_014028.4(OSTM1):c.48G>T (p.Pro16=) | not provided [RCV002999167] | likely benign | 6 | 108074604 | 108074604 | Human | | name |
| 405090669 | CV2859390 | single nucleotide variant | NM_014028.4(OSTM1):c.66G>C (p.Leu22=) | not provided [RCV003549878] | likely benign | 6 | 108074586 | 108074586 | Human | | name |
| 405175951 | CV2864653 | deletion | NM_014028.4(OSTM1):c.402+19_402+26del | not provided [RCV003542759] | likely benign | 6 | 108074224 | 108074231 | Human | | name |
| 402520123 | CV2871113 | single nucleotide variant | NM_014028.4(OSTM1):c.69G>C (p.Leu23=) | not provided [RCV003547694] | likely benign | 6 | 108074583 | 108074583 | Human | | name |
| 402467142 | CV2910364 | single nucleotide variant | NM_014028.4(OSTM1):c.57G>C (p.Pro19=) | not provided [RCV003569608] | likely benign | 6 | 108074595 | 108074595 | Human | | name |
| 11661561 | CV301120 | single nucleotide variant | NM_014028.4(OSTM1):c.67C>T (p.Leu23=) | Autosomal recessive osteopetrosis 5 [RCV000377548]|OSTM1-related disorder [RCV003932464]|not provided [RCV001418684] | likely benign|uncertain significance | 6 | 108074585 | 108074585 | Human | 1 | name , trait , alternate_id |
| 405142342 | CV3055956 | single nucleotide variant | NM_014028.4(OSTM1):c.96G>T (p.Ala32=) | not provided [RCV003725760] | likely benign | 6 | 108074556 | 108074556 | Human | | name |
| 405150483 | CV3123219 | deletion | NM_014028.4(OSTM1):c.784-20_784-18del | not provided [RCV003817452] | likely benign | 6 | 108049436 | 108049438 | Human | | name |
| 404991662 | CV3132300 | single nucleotide variant | NM_014028.4(OSTM1):c.99C>T (p.Leu33=) | not provided [RCV003827238] | likely benign | 6 | 108074553 | 108074553 | Human | | name |
| 405251567 | CV3181312 | single nucleotide variant | NM_014028.4(OSTM1):c.90G>C (p.Leu30=) | not provided [RCV003870314] | likely benign | 6 | 108074562 | 108074562 | Human | | name |
| 597835664 | CV3828266 | single nucleotide variant | NM_014028.4(OSTM1):c.52C>T (p.Leu18=) | not provided [RCV005171158] | likely benign | 6 | 108074600 | 108074600 | Human | | name |
| 28900438 | CV895178 | single nucleotide variant | NM_014028.4(OSTM1):c.8C>T (p.Pro3Leu) | Autosomal recessive osteopetrosis 5 [RCV001156259]|Inborn genetic diseases [RCV003259128]|not provided [RCV001859018] | uncertain significance | 6 | 108074644 | 108074644 | Human | 2 | name |
| 151855363 | CV1372844 | single nucleotide variant | NM_014028.4(OSTM1):c.144G>A (p.Ser48=) | not provided [RCV001996471] | likely benign|uncertain significance | 6 | 108074508 | 108074508 | Human | | name |
| 151767620 | CV1407869 | single nucleotide variant | NM_014028.4(OSTM1):c.14C>T (p.Pro5Leu) | Inborn genetic diseases [RCV003164260]|not provided [RCV001914664] | uncertain significance | 6 | 108074638 | 108074638 | Human | 1 | name |
| 151807707 | CV1505467 | single nucleotide variant | NM_014028.4(OSTM1):c.14C>G (p.Pro5Arg) | not provided [RCV002048558] | uncertain significance | 6 | 108074638 | 108074638 | Human | | name |
| 152174920 | CV1536188 | single nucleotide variant | NM_014028.4(OSTM1):c.159G>A (p.Leu53=) | not provided [RCV002163314] | likely benign | 6 | 108074493 | 108074493 | Human | | name |
| 152063702 | CV1554464 | single nucleotide variant | NM_014028.4(OSTM1):c.162G>A (p.Glu54=) | not provided [RCV002190846] | likely benign | 6 | 108074490 | 108074490 | Human | | name |
| 152100947 | CV1578806 | single nucleotide variant | NM_014028.4(OSTM1):c.207G>A (p.Gly69=) | not provided [RCV002078983] | likely benign | 6 | 108074445 | 108074445 | Human | | name |
| 152033459 | CV1610368 | single nucleotide variant | NM_014028.4(OSTM1):c.177C>T (p.Ser59=) | not provided [RCV002124937] | benign | 6 | 108074475 | 108074475 | Human | | name |
| 152122803 | CV1641005 | single nucleotide variant | NM_014028.4(OSTM1):c.189G>A (p.Leu63=) | not provided [RCV002098393] | likely benign | 6 | 108074463 | 108074463 | Human | | name |
| 156058740 | CV1867919 | single nucleotide variant | NM_014028.4(OSTM1):c.108C>T (p.Gly36=) | not provided [RCV003037182] | likely benign | 6 | 108074544 | 108074544 | Human | | name |
| 156338036 | CV1976995 | single nucleotide variant | NM_014028.4(OSTM1):c.117G>T (p.Pro39=) | not provided [RCV002601133] | likely benign | 6 | 108074535 | 108074535 | Human | | name |
| 155956022 | CV2078264 | single nucleotide variant | NM_014028.4(OSTM1):c.267G>A (p.Leu89=) | not provided [RCV002880769] | likely benign | 6 | 108074385 | 108074385 | Human | | name |
| 155919878 | CV2152265 | single nucleotide variant | NM_014028.4(OSTM1):c.231G>T (p.Leu77=) | not provided [RCV003013127] | likely benign | 6 | 108074421 | 108074421 | Human | | name |
| 11578470 | CV268079 | single nucleotide variant | NM_014028.4(OSTM1):c.207G>T (p.Gly69=) | Autosomal recessive osteopetrosis 5 [RCV000281983]|not provided [RCV001515244]|not specified [RCV000363284] | benign|likely benign | 6 | 108074445 | 108074445 | Human | 1 | name |
| 405018174 | CV2866000 | single nucleotide variant | NM_014028.4(OSTM1):c.276C>G (p.Ala92=) | not provided [RCV003577353] | likely benign | 6 | 108074376 | 108074376 | Human | | name |
| 405020451 | CV2866309 | single nucleotide variant | NM_014028.4(OSTM1):c.141G>C (p.Leu47=) | not provided [RCV003577528] | likely benign | 6 | 108074511 | 108074511 | Human | | name |
| 405126622 | CV2958498 | single nucleotide variant | NM_014028.4(OSTM1):c.276C>T (p.Ala92=) | not provided [RCV003667985] | likely benign | 6 | 108074376 | 108074376 | Human | | name |
| 405231709 | CV2974571 | single nucleotide variant | NM_014028.4(OSTM1):c.201G>A (p.Gly67=) | not provided [RCV003682366] | likely benign | 6 | 108074451 | 108074451 | Human | | name |
| 405121521 | CV3004083 | single nucleotide variant | NM_014028.4(OSTM1):c.201G>T (p.Gly67=) | not provided [RCV003723942] | likely benign | 6 | 108074451 | 108074451 | Human | | name |
| 405006586 | CV3010188 | single nucleotide variant | NM_014028.4(OSTM1):c.207G>C (p.Gly69=) | not provided [RCV003693631] | likely benign | 6 | 108074445 | 108074445 | Human | | name |
| 405164701 | CV3018214 | single nucleotide variant | NM_014028.4(OSTM1):c.252C>T (p.Cys84=) | not provided [RCV003704192] | likely benign | 6 | 108074400 | 108074400 | Human | | name |
| 402479846 | CV3033232 | single nucleotide variant | NM_014028.4(OSTM1):c.105C>T (p.Phe35=) | not provided [RCV003712720] | likely benign | 6 | 108074547 | 108074547 | Human | | name |
| 405225375 | CV3042159 | single nucleotide variant | NM_014028.4(OSTM1):c.183C>T (p.Ser61=) | not provided [RCV003710606] | likely benign | 6 | 108074469 | 108074469 | Human | | name |
| 402510068 | CV3042482 | single nucleotide variant | NM_014028.4(OSTM1):c.144G>T (p.Ser48=) | not provided [RCV003715613] | likely benign | 6 | 108074508 | 108074508 | Human | | name |
| 405157178 | CV3065071 | single nucleotide variant | NM_014028.4(OSTM1):c.25C>T (p.Gln9Ter) | Autosomal recessive osteopetrosis 5 [RCV005037005]|not provided [RCV003726841] | pathogenic|likely pathogenic | 6 | 108074627 | 108074627 | Human | 1 | name |
| 597964392 | CV3830464 | single nucleotide variant | NM_014028.4(OSTM1):c.186C>T (p.Leu62=) | not provided [RCV005164604] | likely benign | 6 | 108074466 | 108074466 | Human | | name |
| 28893718 | CV895175 | single nucleotide variant | NM_014028.4(OSTM1):c.279C>T (p.Asn93=) | Autosomal recessive osteopetrosis 5 [RCV001153653]|not provided [RCV003718368] | likely benign|uncertain significance | 6 | 108074373 | 108074373 | Human | 1 | name |
| 28893721 | CV895176 | single nucleotide variant | NM_014028.4(OSTM1):c.198A>G (p.Gly66=) | Autosomal recessive osteopetrosis 5 [RCV001153654]|OSTM1-related disorder [RCV003945875]|not provided [RCV002070873] | likely benign | 6 | 108074454 | 108074454 | Human | 1 | name , trait , alternate_id |
| 126756572 | CV991239 | single nucleotide variant | NM_014028.4(OSTM1):c.25C>G (p.Gln9Glu) | Inborn genetic diseases [RCV002541870]|not provided [RCV001298629] | uncertain significance | 6 | 108074627 | 108074627 | Human | 1 | name |
| 127309407 | CV1116248 | single nucleotide variant | NM_014028.4(OSTM1):c.759T>C (p.His253=) | not provided [RCV001456291] | likely benign | 6 | 108051055 | 108051055 | Human | | name |
| 151725715 | CV1339511 | single nucleotide variant | NM_014028.4(OSTM1):c.49T>C (p.Trp17Arg) | not provided [RCV002004233] | uncertain significance | 6 | 108074603 | 108074603 | Human | | name |
| 151768744 | CV1383470 | single nucleotide variant | NM_014028.4(OSTM1):c.47C>G (p.Pro16Arg) | not provided [RCV001874235] | uncertain significance | 6 | 108074605 | 108074605 | Human | | name |
| 151772401 | CV1400919 | single nucleotide variant | NM_014028.4(OSTM1):c.71T>A (p.Leu24Gln) | Inborn genetic diseases [RCV004046068]|not provided [RCV002045373] | uncertain significance | 6 | 108074581 | 108074581 | Human | 1 | name |
| 151821861 | CV1415556 | single nucleotide variant | NM_014028.4(OSTM1):c.73T>C (p.Trp25Arg) | not provided [RCV001900960] | uncertain significance | 6 | 108074579 | 108074579 | Human | | name |
| 151730208 | CV1441162 | single nucleotide variant | NM_014028.4(OSTM1):c.61G>T (p.Gly21Trp) | not provided [RCV001945964] | uncertain significance | 6 | 108074591 | 108074591 | Human | | name |
| 151827071 | CV1447320 | single nucleotide variant | NM_014028.4(OSTM1):c.804A>G (p.Leu268=) | not provided [RCV001870164] | likely benign | 6 | 108049398 | 108049398 | Human | | name |
| 151876118 | CV1461345 | single nucleotide variant | NM_014028.4(OSTM1):c.36T>G (p.Cys12Trp) | Inborn genetic diseases [RCV002556351]|not provided [RCV001925836] | uncertain significance | 6 | 108074616 | 108074616 | Human | 1 | name |
| 151847560 | CV1515099 | single nucleotide variant | NM_014028.4(OSTM1):c.79G>T (p.Gly27Trp) | Inborn genetic diseases [RCV002608030]|not provided [RCV001978491] | uncertain significance | 6 | 108074573 | 108074573 | Human | 1 | name |
| 152069527 | CV1571033 | single nucleotide variant | NM_014028.4(OSTM1):c.900C>T (p.Tyr300=) | not provided [RCV002129423] | likely benign | 6 | 108049302 | 108049302 | Human | | name |
| 152043498 | CV1621880 | single nucleotide variant | NM_014028.4(OSTM1):c.810T>C (p.Ser270=) | not provided [RCV002108057] | likely benign | 6 | 108049392 | 108049392 | Human | | name |
| 152055342 | CV1633187 | single nucleotide variant | NM_014028.4(OSTM1):c.633T>C (p.Leu211=) | not provided [RCV002127706] | likely benign | 6 | 108051181 | 108051181 | Human | | name |
| 152085375 | CV1645200 | single nucleotide variant | NM_014028.4(OSTM1):c.966C>T (p.Ser322=) | not provided [RCV002131362] | likely benign | 6 | 108044824 | 108044824 | Human | | name |
| 153305657 | CV1688712 | single nucleotide variant | NM_014028.4(OSTM1):c.56C>T (p.Pro19Leu) | not specified [RCV002266451] | uncertain significance | 6 | 108074596 | 108074596 | Human | | name |
| 155735591 | CV1774463 | single nucleotide variant | NM_014028.4(OSTM1):c.77C>G (p.Ser26Trp) | not provided [RCV002301919] | uncertain significance | 6 | 108074575 | 108074575 | Human | | name |
| 8557113 | CV17983 | single nucleotide variant | NM_014028.4(OSTM1):c.36T>A (p.Cys12Ter) | Autosomal recessive osteopetrosis 5 [RCV000003078] | pathogenic | 6 | 108074616 | 108074616 | Human | 1 | name |
| 156366784 | CV1908574 | single nucleotide variant | NM_014028.4(OSTM1):c.321G>A (p.Arg107=) | not provided [RCV002582120] | likely benign | 6 | 108074331 | 108074331 | Human | | name |
| 156293748 | CV1926240 | single nucleotide variant | NM_014028.4(OSTM1):c.351C>G (p.Pro117=) | not provided [RCV002647311] | likely benign | 6 | 108074301 | 108074301 | Human | | name |
| 156419758 | CV1970516 | single nucleotide variant | NM_014028.4(OSTM1):c.44C>T (p.Pro15Leu) | not provided [RCV002612999] | uncertain significance | 6 | 108074608 | 108074608 | Human | | name |
| 155947060 | CV2029008 | single nucleotide variant | NM_014028.4(OSTM1):c.55C>G (p.Pro19Ala) | not provided [RCV002730465] | uncertain significance | 6 | 108074597 | 108074597 | Human | | name |
| 156134822 | CV2044283 | single nucleotide variant | NM_014028.4(OSTM1):c.894C>T (p.Val298=) | not provided [RCV002786307] | likely benign | 6 | 108049308 | 108049308 | Human | | name |
| 155913970 | CV2066037 | single nucleotide variant | NM_014028.4(OSTM1):c.74G>A (p.Trp25Ter) | not provided [RCV002837921] | pathogenic | 6 | 108074578 | 108074578 | Human | | name |
| 156043454 | CV2071767 | single nucleotide variant | NM_014028.4(OSTM1):c.777A>G (p.Glu259=) | not provided [RCV002846188] | likely benign | 6 | 108051037 | 108051037 | Human | | name |
| 155950601 | CV2076352 | single nucleotide variant | NM_014028.4(OSTM1):c.621T>C (p.Asn207=) | not provided [RCV002862327] | likely benign | 6 | 108051193 | 108051193 | Human | | name |
| 156127966 | CV2112432 | single nucleotide variant | NM_014028.4(OSTM1):c.544T>C (p.Leu182=) | OSTM1-related disorder [RCV003973548]|not provided [RCV002928081] | likely benign | 6 | 108054561 | 108054561 | Human | 1 | name , trait , alternate_id |
| 156122066 | CV2116009 | single nucleotide variant | NM_014028.4(OSTM1):c.318C>T (p.Ala106=) | not provided [RCV002927857] | likely benign | 6 | 108074334 | 108074334 | Human | | name |
| 155940957 | CV2119843 | single nucleotide variant | NM_014028.4(OSTM1):c.94G>A (p.Ala32Thr) | Inborn genetic diseases [RCV003269356]|not provided [RCV002971281] | uncertain significance | 6 | 108074558 | 108074558 | Human | 1 | name |
| 156035234 | CV2123184 | single nucleotide variant | NM_014028.4(OSTM1):c.68T>A (p.Leu23Gln) | Inborn genetic diseases [RCV004068289]|not provided [RCV002949401] | uncertain significance | 6 | 108074584 | 108074584 | Human | 1 | name |
| 156202334 | CV2179063 | single nucleotide variant | NM_014028.4(OSTM1):c.324C>G (p.Pro108=) | not provided [RCV003024496] | likely benign | 6 | 108074328 | 108074328 | Human | | name |
| 155974096 | CV2235638 | single nucleotide variant | NM_014028.4(OSTM1):c.43C>T (p.Pro15Ser) | Inborn genetic diseases [RCV002777109] | uncertain significance | 6 | 108074609 | 108074609 | Human | 1 | name |
| 401748930 | CV2692858 | single nucleotide variant | NM_014028.4(OSTM1):c.68T>C (p.Leu23Pro) | Inborn genetic diseases [RCV003276351] | uncertain significance | 6 | 108074584 | 108074584 | Human | 1 | name |
| 402514740 | CV2855617 | single nucleotide variant | NM_014028.4(OSTM1):c.304C>T (p.Leu102=) | not provided [RCV003547310] | likely benign | 6 | 108074348 | 108074348 | Human | | name |
| 402511155 | CV2858845 | single nucleotide variant | NM_014028.4(OSTM1):c.861T>C (p.Ala287=) | not provided [RCV003547033] | likely benign | 6 | 108049341 | 108049341 | Human | | name |
| 402502435 | CV2869331 | single nucleotide variant | NM_014028.4(OSTM1):c.816T>A (p.Thr272=) | not provided [RCV003546046] | likely benign | 6 | 108049386 | 108049386 | Human | | name |
| 405220139 | CV2884170 | single nucleotide variant | NM_014028.4(OSTM1):c.588C>A (p.Thr196=) | not provided [RCV003553757] | likely benign | 6 | 108054517 | 108054517 | Human | | name |
| 405228148 | CV2894495 | single nucleotide variant | NM_014028.4(OSTM1):c.525A>G (p.Leu175=) | not provided [RCV003555034] | likely benign | 6 | 108054580 | 108054580 | Human | | name |
| 402473309 | CV2908890 | single nucleotide variant | NM_014028.4(OSTM1):c.700C>T (p.Leu234=) | not provided [RCV003570963] | likely benign | 6 | 108051114 | 108051114 | Human | | name |
| 405112602 | CV2939004 | single nucleotide variant | NM_014028.4(OSTM1):c.351C>A (p.Pro117=) | not provided [RCV003666503] | likely benign | 6 | 108074301 | 108074301 | Human | | name |
| 405072876 | CV2940504 | single nucleotide variant | NM_014028.4(OSTM1):c.627T>C (p.His209=) | not provided [RCV003659525] | likely benign | 6 | 108051187 | 108051187 | Human | | name |
| 402500653 | CV2943611 | single nucleotide variant | NM_014028.4(OSTM1):c.585C>T (p.His195=) | not provided [RCV003661568] | likely benign | 6 | 108054520 | 108054520 | Human | | name |
| 405095268 | CV2943966 | single nucleotide variant | NM_014028.4(OSTM1):c.609C>T (p.Asn203=) | not provided [RCV003665591] | likely benign | 6 | 108054496 | 108054496 | Human | | name |
| 405175426 | CV2951823 | single nucleotide variant | NM_014028.4(OSTM1):c.705C>T (p.Tyr235=) | not provided [RCV003675788] | likely benign | 6 | 108051109 | 108051109 | Human | | name |
| 405116777 | CV2953387 | single nucleotide variant | NM_014028.4(OSTM1):c.819C>T (p.Phe273=) | not provided [RCV003667005] | likely benign | 6 | 108049383 | 108049383 | Human | | name |
| 405146118 | CV2962658 | single nucleotide variant | NM_014028.4(OSTM1):c.939A>G (p.Lys313=) | not provided [RCV003673658] | likely benign | 6 | 108049263 | 108049263 | Human | | name |
| 405228052 | CV2963743 | single nucleotide variant | NM_014028.4(OSTM1):c.789C>T (p.Asn263=) | not provided [RCV003681771] | likely benign | 6 | 108049413 | 108049413 | Human | | name |
| 405240841 | CV2974046 | single nucleotide variant | NM_014028.4(OSTM1):c.946C>T (p.Leu316=) | not provided [RCV003684035] | likely benign | 6 | 108049256 | 108049256 | Human | | name |
| 405011337 | CV2980073 | single nucleotide variant | NM_014028.4(OSTM1):c.408T>C (p.Thr136=) | not provided [RCV003694007] | likely benign | 6 | 108064294 | 108064294 | Human | | name |
| 405223597 | CV2982752 | single nucleotide variant | NM_014028.4(OSTM1):c.762A>G (p.Leu254=) | not provided [RCV003681062] | likely benign | 6 | 108051052 | 108051052 | Human | | name |
| 405212728 | CV2984189 | single nucleotide variant | NM_014028.4(OSTM1):c.489T>C (p.Asn163=) | not provided [RCV003708925] | likely benign | 6 | 108064213 | 108064213 | Human | | name |
| 11589351 | CV298677 | single nucleotide variant | NM_014028.4(OSTM1):c.933A>G (p.Lys311=) | Autosomal recessive osteopetrosis 5 [RCV000310254]|not provided [RCV001418872] | likely benign|uncertain significance | 6 | 108049269 | 108049269 | Human | 1 | name |
| 402517603 | CV2992366 | single nucleotide variant | NM_014028.4(OSTM1):c.651T>C (p.Tyr217=) | not provided [RCV003690050] | likely benign | 6 | 108051163 | 108051163 | Human | | name |
| 405241180 | CV3004694 | single nucleotide variant | NM_014028.4(OSTM1):c.465T>G (p.Val155=) | not provided [RCV003719243] | likely benign | 6 | 108064237 | 108064237 | Human | | name |
| 405033876 | CV3009287 | single nucleotide variant | NM_014028.4(OSTM1):c.873C>T (p.Phe291=) | not provided [RCV003695722] | likely benign | 6 | 108049329 | 108049329 | Human | | name |
| 405133977 | CV3018306 | single nucleotide variant | NM_014028.4(OSTM1):c.360A>G (p.Gln120=) | not provided [RCV003701892] | likely benign | 6 | 108074292 | 108074292 | Human | | name |
| 405124641 | CV3021083 | single nucleotide variant | NM_014028.4(OSTM1):c.672C>T (p.Cys224=) | not provided [RCV003701043] | likely benign | 6 | 108051142 | 108051142 | Human | | name |
| 405055686 | CV3023173 | single nucleotide variant | NM_014028.4(OSTM1):c.570T>C (p.Leu190=) | not provided [RCV003697263] | likely benign | 6 | 108054535 | 108054535 | Human | | name |
| 402510189 | CV3042347 | single nucleotide variant | NM_014028.4(OSTM1):c.447A>C (p.Ala149=) | not provided [RCV003715514] | likely benign | 6 | 108064255 | 108064255 | Human | | name |
| 405130237 | CV3050964 | single nucleotide variant | NM_014028.4(OSTM1):c.549A>T (p.Ser183=) | not provided [RCV003724761] | likely benign | 6 | 108054556 | 108054556 | Human | | name |
| 11605199 | CV305533 | single nucleotide variant | NM_014028.4(OSTM1):c.300G>T (p.Gly100=) | Autosomal recessive osteopetrosis 5 [RCV000316873]|not provided [RCV001518970] | benign|likely benign|uncertain significance | 6 | 108074352 | 108074352 | Human | 1 | name |
| 405146316 | CV3067224 | single nucleotide variant | NM_014028.4(OSTM1):c.561A>G (p.Val187=) | not provided [RCV003726087] | likely benign | 6 | 108054544 | 108054544 | Human | | name |
| 405038957 | CV3067777 | single nucleotide variant | NM_014028.4(OSTM1):c.918C>T (p.His306=) | not provided [RCV003739761] | likely benign | 6 | 108049284 | 108049284 | Human | | name |
| 405006419 | CV3120896 | single nucleotide variant | NM_014028.4(OSTM1):c.717A>G (p.Gln239=) | not provided [RCV003828499] | likely benign | 6 | 108051097 | 108051097 | Human | | name |
| 405137671 | CV3144729 | single nucleotide variant | NM_014028.4(OSTM1):c.321G>T (p.Arg107=) | not provided [RCV003855246] | likely benign | 6 | 108074331 | 108074331 | Human | | name |
| 405171745 | CV3151601 | single nucleotide variant | NM_014028.4(OSTM1):c.756A>G (p.Thr252=) | not provided [RCV003857752] | likely benign | 6 | 108051058 | 108051058 | Human | | name |
| 405242631 | CV3173317 | single nucleotide variant | NM_014028.4(OSTM1):c.351C>T (p.Pro117=) | not provided [RCV003867602] | likely benign | 6 | 108074301 | 108074301 | Human | | name |
| 405784551 | CV3374350 | single nucleotide variant | NM_014028.4(OSTM1):c.47C>T (p.Pro16Leu) | Inborn genetic diseases [RCV004504563] | uncertain significance | 6 | 108074605 | 108074605 | Human | 1 | name |
| 597877681 | CV3744285 | single nucleotide variant | NM_014028.4(OSTM1):c.654A>G (p.Ser218=) | not provided [RCV005069499] | likely benign | 6 | 108051160 | 108051160 | Human | | name |
| 597892217 | CV3763111 | single nucleotide variant | NM_014028.4(OSTM1):c.780T>C (p.Asp260=) | not provided [RCV005110883] | likely benign | 6 | 108051034 | 108051034 | Human | | name |
| 597873609 | CV3769819 | single nucleotide variant | NM_014028.4(OSTM1):c.495A>C (p.Thr165=) | not provided [RCV005108077] | likely benign | 6 | 108064207 | 108064207 | Human | | name |
| 597940153 | CV3772084 | single nucleotide variant | NM_014028.4(OSTM1):c.51G>A (p.Trp17Ter) | not provided [RCV005118339] | pathogenic | 6 | 108074601 | 108074601 | Human | | name |
| 597865273 | CV3792584 | single nucleotide variant | NM_014028.4(OSTM1):c.618G>T (p.Gly206=) | not provided [RCV005147391] | likely benign | 6 | 108051196 | 108051196 | Human | | name |
| 597904738 | CV3793342 | single nucleotide variant | NM_014028.4(OSTM1):c.75G>A (p.Trp25Ter) | not provided [RCV005153310] | pathogenic | 6 | 108074577 | 108074577 | Human | | name |
| 597955855 | CV3796335 | single nucleotide variant | NM_014028.4(OSTM1):c.342C>T (p.Thr114=) | not provided [RCV005137152] | likely benign | 6 | 108074310 | 108074310 | Human | | name |
| 597907312 | CV3804172 | single nucleotide variant | NM_014028.4(OSTM1):c.531C>T (p.Asn177=) | not provided [RCV005153718] | likely benign | 6 | 108054574 | 108054574 | Human | | name |
| 597909908 | CV3806517 | single nucleotide variant | NM_014028.4(OSTM1):c.837C>T (p.Cys279=) | not provided [RCV005154084] | likely benign | 6 | 108049365 | 108049365 | Human | | name |
| 597930012 | CV3826907 | single nucleotide variant | NM_014028.4(OSTM1):c.95C>A (p.Ala32Glu) | not provided [RCV005156920] | uncertain significance | 6 | 108074557 | 108074557 | Human | | name |
| 597903924 | CV3856273 | single nucleotide variant | NM_014028.4(OSTM1):c.387C>T (p.Ile129=) | not provided [RCV005202501] | likely benign | 6 | 108074265 | 108074265 | Human | | name |
| 15163299 | CV710102 | single nucleotide variant | NM_014028.4(OSTM1):c.960C>G (p.Leu320=) | Autosomal recessive osteopetrosis 5 [RCV001157853]|not provided [RCV000970454] | benign|likely benign | 6 | 108044830 | 108044830 | Human | 1 | name |
| 15112645 | CV721629 | single nucleotide variant | NM_014028.4(OSTM1):c.495A>G (p.Thr165=) | Autosomal recessive osteopetrosis 5 [RCV001152372]|not provided [RCV000894510] | benign|likely benign | 6 | 108064207 | 108064207 | Human | 1 | name |
| 15170570 | CV735320 | single nucleotide variant | NM_014028.4(OSTM1):c.312C>T (p.Arg104=) | not provided [RCV000905292] | likely benign | 6 | 108074340 | 108074340 | Human | | name |
| 28904097 | CV895173 | single nucleotide variant | NM_014028.4(OSTM1):c.558A>G (p.Thr186=) | Autosomal recessive osteopetrosis 5 [RCV001157855]|not provided [RCV002558386] | likely benign|uncertain significance | 6 | 108054547 | 108054547 | Human | 1 | name |
| 28900434 | CV895177 | single nucleotide variant | NM_014028.4(OSTM1):c.49T>G (p.Trp17Gly) | Autosomal recessive osteopetrosis 5 [RCV001156258]|not provided [RCV001882490] | likely benign|uncertain significance | 6 | 108074603 | 108074603 | Human | 1 | name |
| 127249270 | CV1060555 | deletion | NM_014028.4(OSTM1):c.442del (p.Met148fs) | not provided [RCV001385071] | pathogenic | 6 | 108064260 | 108064260 | Human | | name |
| 151877389 | CV1360439 | single nucleotide variant | NM_014028.4(OSTM1):c.166G>A (p.Glu56Lys) | Inborn genetic diseases [RCV005397064]|not provided [RCV001907237] | uncertain significance | 6 | 108074486 | 108074486 | Human | 1 | name |
| 151747376 | CV1362286 | single nucleotide variant | NM_014028.4(OSTM1):c.124G>A (p.Val42Ile) | not provided [RCV001968797] | uncertain significance | 6 | 108074528 | 108074528 | Human | | name |
| 151820625 | CV1365337 | single nucleotide variant | NM_014028.4(OSTM1):c.245C>T (p.Pro82Leu) | Inborn genetic diseases [RCV004953230]|not provided [RCV001879180] | uncertain significance | 6 | 108074407 | 108074407 | Human | 1 | name |
| 151802504 | CV1369048 | single nucleotide variant | NM_014028.4(OSTM1):c.199G>A (p.Gly67Arg) | not provided [RCV002028230] | uncertain significance | 6 | 108074453 | 108074453 | Human | | name |
| 151753179 | CV1407254 | single nucleotide variant | NM_014028.4(OSTM1):c.284G>C (p.Ser95Thr) | not provided [RCV002023600] | uncertain significance | 6 | 108074368 | 108074368 | Human | | name |
| 151883987 | CV1428478 | duplication | NM_014028.4(OSTM1):c.692dup (p.Ser232fs) | Autosomal recessive osteopetrosis 5 [RCV005253964]|not provided [RCV002000173] | pathogenic | 6 | 108051121 | 108051122 | Human | 1 | name |
| 151726249 | CV1438173 | single nucleotide variant | NM_014028.4(OSTM1):c.206G>C (p.Gly69Ala) | Inborn genetic diseases [RCV002554262]|not provided [RCV001891757] | uncertain significance | 6 | 108074446 | 108074446 | Human | 1 | name |
| 151887108 | CV1478171 | single nucleotide variant | NM_014028.4(OSTM1):c.254G>C (p.Arg85Pro) | Inborn genetic diseases [RCV004956069]|not provided [RCV002038117] | uncertain significance | 6 | 108074398 | 108074398 | Human | 1 | name |
| 10047570 | CV190532 | single nucleotide variant | NM_014028.4(OSTM1):c.221C>G (p.Pro74Arg) | Autosomal recessive osteopetrosis 5 [RCV000373864]|not provided [RCV000956402]|not specified [RCV000173434] | benign|likely benign | 6 | 108074431 | 108074431 | Human | 1 | name |
| 10049505 | CV190533 | single nucleotide variant | NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly) | Autosomal recessive osteopetrosis 5 [RCV001153655]|OSTM1-related disorder [RCV003917601]|not provided [RCV000173435] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 6 | 108074518 | 108074518 | Human | 1 | name , trait , alternate_id |
| 156366874 | CV1909375 | single nucleotide variant | NM_014028.4(OSTM1):c.149A>G (p.Gln50Arg) | not provided [RCV002602883] | uncertain significance | 6 | 108074503 | 108074503 | Human | | name |
| 156226756 | CV2006078 | single nucleotide variant | NM_014028.4(OSTM1):c.295A>G (p.Thr99Ala) | not provided [RCV002667431] | uncertain significance | 6 | 108074357 | 108074357 | Human | | name |
| 156193657 | CV2024250 | single nucleotide variant | NM_014028.4(OSTM1):c.119A>C (p.His40Pro) | not provided [RCV002711171] | uncertain significance | 6 | 108074533 | 108074533 | Human | | name |
| 156020296 | CV2110946 | single nucleotide variant | NM_014028.4(OSTM1):c.242A>G (p.Asp81Gly) | not provided [RCV002909580] | uncertain significance | 6 | 108074410 | 108074410 | Human | | name |
| 156086935 | CV2155370 | deletion | NM_014028.4(OSTM1):c.352del (p.Leu118fs) | not provided [RCV003020540] | pathogenic | 6 | 108074300 | 108074300 | Human | | name |
| 156124319 | CV2185497 | single nucleotide variant | NM_014028.4(OSTM1):c.163G>T (p.Val55Leu) | not provided [RCV003055590] | uncertain significance | 6 | 108074489 | 108074489 | Human | | name |
| 155983071 | CV2273040 | single nucleotide variant | NM_014028.4(OSTM1):c.239T>G (p.Leu80Arg) | Inborn genetic diseases [RCV002818756] | uncertain significance | 6 | 108074413 | 108074413 | Human | 1 | name |
| 156245195 | CV2313327 | single nucleotide variant | NM_014028.4(OSTM1):c.233C>G (p.Pro78Arg) | Inborn genetic diseases [RCV002919572] | uncertain significance | 6 | 108074419 | 108074419 | Human | 1 | name |
| 11643440 | CV272395 | single nucleotide variant | NM_014028.4(OSTM1):c.238C>G (p.Leu80Val) | not provided [RCV000393060] | uncertain significance | 6 | 108074414 | 108074414 | Human | | name |
| 11642847 | CV275466 | single nucleotide variant | NM_014028.4(OSTM1):c.143C>G (p.Ser48Trp) | not provided [RCV000383209] | conflicting interpretations of pathogenicity|uncertain significance | 6 | 108074509 | 108074509 | Human | | name |
| 401878033 | CV2760178 | single nucleotide variant | NM_014028.4(OSTM1):c.238C>A (p.Leu80Met) | Inborn genetic diseases [RCV003363738] | uncertain significance | 6 | 108074414 | 108074414 | Human | 1 | name |
| 405169234 | CV2911672 | deletion | NM_014028.4(OSTM1):c.560del (p.Val187fs) | not provided [RCV003562946] | pathogenic | 6 | 108054545 | 108054545 | Human | | name |
| 11590602 | CV298682 | single nucleotide variant | NM_014028.4(OSTM1):c.156G>C (p.Leu52Phe) | Autosomal recessive osteopetrosis 5 [RCV000320607]|not provided [RCV001515175] | benign|likely benign | 6 | 108074496 | 108074496 | Human | 1 | name |
| 405130223 | CV3050963 | deletion | NM_014028.4(OSTM1):c.551del (p.Asn184fs) | not provided [RCV003724760] | pathogenic | 6 | 108054554 | 108054554 | Human | | name |
| 405236794 | CV3076792 | single nucleotide variant | NM_014028.4(OSTM1):c.256G>T (p.Glu86Ter) | not provided [RCV003736038] | pathogenic | 6 | 108074396 | 108074396 | Human | | name |
| 405784545 | CV3374349 | single nucleotide variant | NM_014028.4(OSTM1):c.171C>G (p.Asp57Glu) | Inborn genetic diseases [RCV004504562] | uncertain significance | 6 | 108074481 | 108074481 | Human | 1 | name |
| 597883474 | CV3834779 | single nucleotide variant | NM_014028.4(OSTM1):c.191A>G (p.Gln64Arg) | not provided [RCV005178502] | uncertain significance | 6 | 108074461 | 108074461 | Human | | name |
| 21071542 | CV790573 | deletion | NM_014028.4(OSTM1):c.486del (p.Phe162fs) | Autosomal recessive osteopetrosis 5 [RCV000987757] | pathogenic | 6 | 108064216 | 108064216 | Human | 1 | name |
| 28893715 | CV895174 | single nucleotide variant | NM_014028.4(OSTM1):c.280A>G (p.Ser94Gly) | Autosomal recessive osteopetrosis 5 [RCV001153652]|not provided [RCV002032415] | uncertain significance | 6 | 108074372 | 108074372 | Human | 1 | name |
| 126759155 | CV991238 | single nucleotide variant | NM_014028.4(OSTM1):c.220C>A (p.Pro74Thr) | not provided [RCV001308936] | uncertain significance | 6 | 108074432 | 108074432 | Human | | name |
| 126909842 | CV1037655 | single nucleotide variant | NM_014028.4(OSTM1):c.797G>A (p.Arg266Gln) | not provided [RCV001354124] | uncertain significance | 6 | 108049405 | 108049405 | Human | | name |
| 151784079 | CV1343966 | single nucleotide variant | NM_014028.4(OSTM1):c.889G>A (p.Val297Ile) | Inborn genetic diseases [RCV004651922]|not provided [RCV002046430] | uncertain significance | 6 | 108049313 | 108049313 | Human | 1 | name |
| 151891040 | CV1346878 | single nucleotide variant | NM_014028.4(OSTM1):c.829G>A (p.Val277Ile) | not provided [RCV002038985] | uncertain significance | 6 | 108049373 | 108049373 | Human | | name |
| 151812523 | CV1355406 | single nucleotide variant | NM_014028.4(OSTM1):c.737A>G (p.Asn246Ser) | Inborn genetic diseases [RCV005382333]|not provided [RCV002012582] | uncertain significance | 6 | 108051077 | 108051077 | Human | 1 | name |
| 151852142 | CV1358619 | single nucleotide variant | NM_014028.4(OSTM1):c.658G>A (p.Val220Ile) | Inborn genetic diseases [RCV002562243]|not provided [RCV001979089] | uncertain significance | 6 | 108051156 | 108051156 | Human | 1 | name |
| 151765197 | CV1362546 | single nucleotide variant | NM_014028.4(OSTM1):c.491C>T (p.Thr164Ile) | not provided [RCV001970626] | uncertain significance | 6 | 108064211 | 108064211 | Human | | name |
| 151746501 | CV1365960 | single nucleotide variant | NM_014028.4(OSTM1):c.865T>A (p.Ser289Thr) | Inborn genetic diseases [RCV003167048]|not provided [RCV001893837] | uncertain significance | 6 | 108049337 | 108049337 | Human | 1 | name |
| 151863015 | CV1368261 | single nucleotide variant | NM_014028.4(OSTM1):c.593C>T (p.Thr198Ile) | not provided [RCV001905541] | uncertain significance | 6 | 108054512 | 108054512 | Human | | name |
| 151709851 | CV1372162 | single nucleotide variant | NM_014028.4(OSTM1):c.446C>T (p.Ala149Val) | not provided [RCV001964067] | uncertain significance | 6 | 108064256 | 108064256 | Human | | name |
| 151858173 | CV1377552 | single nucleotide variant | NM_014028.4(OSTM1):c.503A>G (p.Glu168Gly) | not provided [RCV001938208] | uncertain significance | 6 | 108064199 | 108064199 | Human | | name |
| 151879505 | CV1398712 | single nucleotide variant | NM_014028.4(OSTM1):c.655G>A (p.Glu219Lys) | not provided [RCV002019953] | uncertain significance | 6 | 108051159 | 108051159 | Human | | name |
| 151747923 | CV1399496 | single nucleotide variant | NM_014028.4(OSTM1):c.347A>T (p.Tyr116Phe) | not provided [RCV001927194] | uncertain significance | 6 | 108074305 | 108074305 | Human | | name |
| 151765308 | CV1403271 | single nucleotide variant | NM_014028.4(OSTM1):c.313A>G (p.Ser105Gly) | not provided [RCV001914441] | uncertain significance | 6 | 108074339 | 108074339 | Human | | name |
| 151783766 | CV1424594 | single nucleotide variant | NM_014028.4(OSTM1):c.531C>A (p.Asn177Lys) | not provided [RCV001865200] | uncertain significance | 6 | 108054574 | 108054574 | Human | | name |
| 151783010 | CV1434538 | single nucleotide variant | NM_014028.4(OSTM1):c.410C>G (p.Ser137Ter) | not provided [RCV001897417] | pathogenic | 6 | 108064292 | 108064292 | Human | | name |
| 151776739 | CV1449456 | single nucleotide variant | NM_014028.4(OSTM1):c.331C>T (p.Leu111Phe) | not provided [RCV002009360] | uncertain significance | 6 | 108074321 | 108074321 | Human | | name |
| 151751782 | CV1457361 | single nucleotide variant | NM_014028.4(OSTM1):c.380A>C (p.Asp127Ala) | not provided [RCV001913054] | uncertain significance | 6 | 108074272 | 108074272 | Human | | name |
| 151865330 | CV1477482 | single nucleotide variant | NM_014028.4(OSTM1):c.431G>A (p.Arg144Lys) | not provided [RCV001939090] | uncertain significance | 6 | 108064271 | 108064271 | Human | | name |
| 151771978 | CV1481948 | single nucleotide variant | NM_014028.4(OSTM1):c.916C>T (p.His306Tyr) | not provided [RCV002008932] | uncertain significance | 6 | 108049286 | 108049286 | Human | | name |
| 151779205 | CV1493479 | single nucleotide variant | NM_014028.4(OSTM1):c.422G>A (p.Ser141Asn) | Inborn genetic diseases [RCV004955796]|not provided [RCV001915721] | uncertain significance | 6 | 108064280 | 108064280 | Human | 1 | name |
| 151734688 | CV1497894 | single nucleotide variant | NM_014028.4(OSTM1):c.401G>T (p.Gly134Val) | not provided [RCV001984569] | uncertain significance | 6 | 108074251 | 108074251 | Human | | name |
| 151762166 | CV1503012 | single nucleotide variant | NM_014028.4(OSTM1):c.786G>C (p.Met262Ile) | not provided [RCV001914120] | uncertain significance | 6 | 108049416 | 108049416 | Human | | name |
| 153346234 | CV1691024 | single nucleotide variant | NM_014028.4(OSTM1):c.524T>C (p.Leu175Ser) | not provided [RCV003151886]|not specified [RCV002271925] | uncertain significance | 6 | 108054581 | 108054581 | Human | | name |
| 155674290 | CV1774294 | single nucleotide variant | NM_014028.4(OSTM1):c.530A>T (p.Asn177Ile) | not provided [RCV002297695] | uncertain significance | 6 | 108054575 | 108054575 | Human | | name |
| 156188623 | CV1882689 | single nucleotide variant | NM_014028.4(OSTM1):c.673C>T (p.Arg225Cys) | Inborn genetic diseases [RCV003083799]|not provided [RCV003072172] | uncertain significance | 6 | 108051141 | 108051141 | Human | 1 | name |
| 156144060 | CV1922765 | single nucleotide variant | NM_014028.4(OSTM1):c.400G>A (p.Gly134Arg) | not provided [RCV002623766] | uncertain significance | 6 | 108074252 | 108074252 | Human | | name |
| 156449743 | CV1942006 | single nucleotide variant | NM_014028.4(OSTM1):c.674G>A (p.Arg225His) | Inborn genetic diseases [RCV004661613]|not provided [RCV003121869] | uncertain significance | 6 | 108051140 | 108051140 | Human | 1 | name |
| 156440435 | CV1943561 | single nucleotide variant | NM_014028.4(OSTM1):c.821A>G (p.Asn274Ser) | not provided [RCV003110469] | uncertain significance | 6 | 108049381 | 108049381 | Human | | name |
| 156447402 | CV1945356 | single nucleotide variant | NM_014028.4(OSTM1):c.416G>C (p.Ser139Thr) | Inborn genetic diseases [RCV003358137]|not provided [RCV003118930] | uncertain significance | 6 | 108064286 | 108064286 | Human | 1 | name |
| 156120259 | CV2052280 | single nucleotide variant | NM_014028.4(OSTM1):c.757C>T (p.His253Tyr) | not provided [RCV002825270] | uncertain significance | 6 | 108051057 | 108051057 | Human | | name |
| 155971656 | CV2079257 | single nucleotide variant | NM_014028.4(OSTM1):c.564T>G (p.Tyr188Ter) | not provided [RCV002881517] | pathogenic | 6 | 108054541 | 108054541 | Human | | name |
| 156042610 | CV2094196 | single nucleotide variant | NM_014028.4(OSTM1):c.440T>C (p.Leu147Ser) | not provided [RCV002885871] | uncertain significance | 6 | 108064262 | 108064262 | Human | | name |
| 156132016 | CV2121639 | single nucleotide variant | NM_014028.4(OSTM1):c.469A>T (p.Ile157Phe) | not provided [RCV002953914] | uncertain significance | 6 | 108064233 | 108064233 | Human | | name |
| 156210537 | CV2131596 | single nucleotide variant | NM_014028.4(OSTM1):c.932A>C (p.Lys311Thr) | Inborn genetic diseases [RCV004960865]|not provided [RCV002985571] | uncertain significance | 6 | 108049270 | 108049270 | Human | 1 | name |
| 155952646 | CV2143672 | single nucleotide variant | NM_014028.4(OSTM1):c.875T>C (p.Ile292Thr) | not provided [RCV002994719] | uncertain significance | 6 | 108049327 | 108049327 | Human | | name |
| 156246404 | CV2145478 | single nucleotide variant | NM_014028.4(OSTM1):c.956G>A (p.Arg319His) | not provided [RCV003008285] | uncertain significance | 6 | 108044834 | 108044834 | Human | | name |
| 156348225 | CV2191432 | single nucleotide variant | NM_014028.4(OSTM1):c.947T>C (p.Leu316Pro) | not provided [RCV003048135] | uncertain significance | 6 | 108049255 | 108049255 | Human | | name |
| 155978152 | CV2321367 | single nucleotide variant | NM_014028.4(OSTM1):c.692T>C (p.Leu231Pro) | Inborn genetic diseases [RCV002907539] | uncertain significance | 6 | 108051122 | 108051122 | Human | 1 | name |
| 405045598 | CV2859730 | single nucleotide variant | NM_014028.4(OSTM1):c.358C>T (p.Gln120Ter) | not provided [RCV003579316] | pathogenic | 6 | 108074294 | 108074294 | Human | | name |
| 402499933 | CV2926652 | single nucleotide variant | NM_014028.4(OSTM1):c.397G>C (p.Ala133Pro) | not provided [RCV003573789] | uncertain significance | 6 | 108074255 | 108074255 | Human | | name |
| 405179414 | CV3027679 | single nucleotide variant | NM_014028.4(OSTM1):c.498G>A (p.Trp166Ter) | not provided [RCV003705387] | pathogenic | 6 | 108064204 | 108064204 | Human | | name |
| 407429390 | CV3413801 | single nucleotide variant | NM_014028.4(OSTM1):c.811C>T (p.Arg271Ter) | Autosomal recessive osteopetrosis 5 [RCV004595210] | pathogenic | 6 | 108049391 | 108049391 | Human | 1 | name |
| 407511434 | CV3459731 | single nucleotide variant | NM_014028.4(OSTM1):c.392G>A (p.Arg131Gln) | Inborn genetic diseases [RCV004648046] | uncertain significance | 6 | 108074260 | 108074260 | Human | 1 | name |
| 597691848 | CV3567807 | single nucleotide variant | NM_014028.4(OSTM1):c.714G>A (p.Met238Ile) | Inborn genetic diseases [RCV004954264] | uncertain significance | 6 | 108051100 | 108051100 | Human | 1 | name |
| 597691856 | CV3567808 | single nucleotide variant | NM_014028.4(OSTM1):c.331C>G (p.Leu111Val) | Inborn genetic diseases [RCV004954265] | uncertain significance | 6 | 108074321 | 108074321 | Human | 1 | name |
| 597691861 | CV3567809 | single nucleotide variant | NM_014028.4(OSTM1):c.375G>C (p.Lys125Asn) | Inborn genetic diseases [RCV004954266] | uncertain significance | 6 | 108074277 | 108074277 | Human | 1 | name |
| 597920225 | CV3765089 | single nucleotide variant | NM_014028.4(OSTM1):c.548C>G (p.Ser183Ter) | not provided [RCV005115106] | pathogenic | 6 | 108054557 | 108054557 | Human | | name |
| 597892548 | CV3822896 | single nucleotide variant | NM_014028.4(OSTM1):c.350C>T (p.Pro117Leu) | not provided [RCV005179972] | uncertain significance | 6 | 108074302 | 108074302 | Human | | name |
| 597931849 | CV3837929 | single nucleotide variant | NM_014028.4(OSTM1):c.620A>G (p.Asn207Ser) | not provided [RCV005185898] | uncertain significance | 6 | 108051194 | 108051194 | Human | | name |
| 13833574 | CV584809 | single nucleotide variant | NM_014028.4(OSTM1):c.325G>A (p.Val109Met) | Autosomal recessive osteopetrosis 5 [RCV001152373]|not provided [RCV000728873] | uncertain significance | 6 | 108074327 | 108074327 | Human | 1 | name |
| 14693771 | CV620207 | single nucleotide variant | NM_014028.4(OSTM1):c.796C>T (p.Arg266Ter) | not provided [RCV005092318] | pathogenic|uncertain significance | 6 | 108049406 | 108049406 | Human | | name |
| 126761857 | CV991237 | single nucleotide variant | NM_014028.4(OSTM1):c.969T>G (p.Ser323Arg) | Inborn genetic diseases [RCV004960709]|not provided [RCV001300215] | uncertain significance | 6 | 108044821 | 108044821 | Human | 1 | name |
| 10048172 | CV192452 | microsatellite | NM_014028.4(OSTM1):c.415_416del (p.Gln140fs) | Autosomal recessive osteopetrosis 5 [RCV000175853]|not provided [RCV000724855] | pathogenic | 6 | 108064286 | 108064287 | Human | | name |
| 405174653 | CV2863458 | microsatellite | NM_014028.4(OSTM1):c.421_422del (p.Ser141fs) | not provided [RCV003542629] | pathogenic | 6 | 108064280 | 108064281 | Human | | name |
| 156351045 | CV1985607 | indel | NM_014028.4(OSTM1):c.68_69delinsAA (p.Leu23Gln) | not provided [RCV002631981] | uncertain significance | 6 | 108074583 | 108074584 | Human | | name |
| 329847004 | CV2524093 | indel | NM_014028.4(OSTM1):c.255_256delinsC (p.Glu86fs) | Osteopetrosis [RCV003226798] | likely pathogenic | 6 | 108074396 | 108074397 | Human | | name |
| 156325571 | CV2068535 | indel | NM_014028.4(OSTM1):c.133_134delinsTT (p.Asp45Phe) | not provided [RCV002834994] | uncertain significance | 6 | 108074518 | 108074519 | Human | | name |
