Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for All species
(View Results for all Objects and Ontologies)


1002 records found for search term Pot1
Refine Term:
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
155740558CV1809462single nucleotide variantNM_015450.3(POT1):c.-4A>GHereditary cancer-predisposing syndrome [RCV002343032]uncertain significance7124897177124897177Human1name
597662864CV3580885single nucleotide variantNM_015450.3(POT1):c.-3T>GHereditary cancer-predisposing syndrome [RCV004946570]uncertain significance7124897176124897176Human1name
126917531CV1044629single nucleotide variantNM_015450.3(POT1):c.9+4A>GTumor predisposition syndrome 3 [RCV001361225]pathogenic|uncertain significance7124897161124897161Human2name , alternate_id
150420095CV1193879single nucleotide variantNM_015450.3(POT1):c.*89A>Gnot provided [RCV001569966]likely benign7124823873124823873Humanname
152156007CV1572971single nucleotide variantNM_015450.3(POT1):c.-34T>CTumor predisposition syndrome 3 [RCV002180140]|not specified [RCV002268602]benign|likely benign7124897207124897207Human2name
152148920CV1616655single nucleotide variantNM_015450.3(POT1):c.9+8G>TTumor predisposition syndrome 3 [RCV002201664]likely benign7124897157124897157Human2name
153302626CV1689831single nucleotide variantNM_015450.3(POT1):c.-18G>Tnot specified [RCV002268729]likely benign7124897191124897191Humanname
155700416CV1821071single nucleotide variantNM_015450.3(POT1):c.9+1G>AHereditary cancer-predisposing syndrome [RCV002376353]|Tumor predisposition syndrome 3 [RCV003746630]likely pathogenic7124897164124897164Human3name
243049555CV2416944single nucleotide variantNM_015450.3(POT1):c.9+1G>Cnot provided [RCV003151616]likely pathogenic7124897164124897164Humanname
401798233CV2741392single nucleotide variantNM_015450.3(POT1):c.*29A>Gnot specified [RCV003322555]likely benign7124823933124823933Humanname
405150403CV2884130single nucleotide variantNM_015450.3(POT1):c.9+5G>TTumor predisposition syndrome 3 [RCV003585601]uncertain significance7124897160124897160Human2name
405248888CV2953893single nucleotide variantNM_015450.3(POT1):c.9+4A>CTumor predisposition syndrome 3 [RCV003746813]pathogenic7124897161124897161Human2name
405707183CV3384113single nucleotide variantNM_015450.3(POT1):c.-39G>THereditary cancer-predisposing syndrome [RCV004521858]uncertain significance7124897212124897212Human1name
405707308CV3384129single nucleotide variantNM_015450.3(POT1):c.9+5G>CHereditary cancer-predisposing syndrome [RCV004521874]uncertain significance7124897160124897160Human1name
13500466CV457157single nucleotide variantNM_015450.3(POT1):c.9+3A>GHereditary cancer-predisposing syndrome [RCV001018628]|Tumor predisposition syndrome 3 [RCV000540425]|not provided [RCV001770480]likely benign|uncertain significance7124897162124897162Human3name , alternate_id
13538594CV501874single nucleotide variantNM_015450.3(POT1):c.9+6A>GTumor predisposition syndrome 3 [RCV001049760]|not provided [RCV001698100]|not specified [RCV002268217]likely benign|uncertain significance7124897159124897159Human2name , alternate_id
15141599CV695344single nucleotide variantNM_015450.3(POT1):c.9+8G>ATumor predisposition syndrome 3 [RCV000877704]|not specified [RCV004596366]likely benign7124897157124897157Human2name
15136179CV695345single nucleotide variantNM_015450.3(POT1):c.9+7T>CTumor predisposition syndrome 3 [RCV001436274]likely benign7124897158124897158Human2name
126764631CV1027702single nucleotide variantNM_015450.3(POT1):c.10-3T>CHereditary cancer-predisposing syndrome [RCV003284229]|Tumor predisposition syndrome 3 [RCV001341726]uncertain significance7124892383124892383Human3name , alternate_id
150488965CV1208341single nucleotide variantNM_015450.3(POT1):c.-321A>Tnot provided [RCV001592201]likely benign7124928909124928909Humanname
152046222CV1561397single nucleotide variantNM_015450.3(POT1):c.9+12T>CTumor predisposition syndrome 3 [RCV002108370]likely benign7124897153124897153Human2name
152055847CV1582208single nucleotide variantNM_015450.3(POT1):c.9+10T>ATumor predisposition syndrome 3 [RCV002089695]likely benign7124897155124897155Human2name
152120176CV1654938single nucleotide variantNM_015450.3(POT1):c.9+20A>CTumor predisposition syndrome 3 [RCV002216669]likely benign7124897145124897145Human2name
152105153CV1658939single nucleotide variantNM_015450.3(POT1):c.9+12T>GTumor predisposition syndrome 3 [RCV002152301]likely benign7124897153124897153Human2name
156309625CV1928260single nucleotide variantNM_015450.3(POT1):c.9+16G>ATumor predisposition syndrome 3 [RCV002648079]likely benign7124897149124897149Human2name
329368767CV2423026single nucleotide variantNM_015450.3(POT1):c.10-5T>GHereditary cancer-predisposing syndrome [RCV003171444]uncertain significance7124892385124892385Human1name
401922742CV2823145single nucleotide variantNM_015450.3(POT1):c.*998G>Anot provided [RCV003434116]benign|likely benign7124822964124822964Humanname
405008877CV2853136single nucleotide variantNM_015450.3(POT1):c.9+47A>Gnot specified [RCV003494330]likely benign7124897118124897118Humanname
405250964CV3074505single nucleotide variantNM_015450.3(POT1):c.9+11A>GTumor predisposition syndrome 3 [RCV003747631]likely benign7124897154124897154Human2name
597883996CV3858017single nucleotide variantNM_015450.3(POT1):c.9+15A>GTumor predisposition syndrome 3 [RCV005199445]likely benign7124897150124897150Human2name
13473871CV456211single nucleotide variantNM_015450.3(POT1):c.9+10T>CTumor predisposition syndrome 3 [RCV000525571]likely benign7124897155124897155Human2name , alternate_id
13502344CV456756single nucleotide variantNM_015450.3(POT1):c.10-2A>CHereditary cancer-predisposing syndrome [RCV003302882]|Tumor predisposition syndrome 3 [RCV000541909]|Tumor predisposition syndrome 3 [RCV005034114]|not provided [RCV003114674]pathogenic|likely pathogenic|uncertain significance7124892382124892382Human5name , alternate_id
13811633CV566386single nucleotide variantNM_015450.3(POT1):c.10-1G>ATumor predisposition syndrome 3 [RCV000688884]pathogenic|likely pathogenic|uncertain significance7124892381124892381Human2name , alternate_id
14736463CV655773single nucleotide variantNM_015450.3(POT1):c.-304C>Anot provided [RCV000838481]likely benign7124928892124928892Humanname
126749419CV1007161single nucleotide variantNM_015450.3(POT1):c.950-3T>CHereditary cancer-predisposing syndrome [RCV002377422]|Tumor predisposition syndrome 3 [RCV001326531]likely benign|uncertain significance7124847001124847001Human3name , alternate_id
126755895CV1007162deletionNM_015450.3(POT1):c.869+4delHereditary cancer-predisposing syndrome [RCV002447383]|Tumor predisposition syndrome 3 [RCV001327848]pathogenic|uncertain significance7124852968124852968Human3name , alternate_id
126726740CV1027699single nucleotide variantNM_015450.3(POT1):c.125-1G>TTumor predisposition syndrome 3 [RCV001348545]likely pathogenic|uncertain significance7124871042124871042Human2name , alternate_id
127231537CV1074348single nucleotide variantNM_015450.3(POT1):c.950-8T>GTumor predisposition syndrome 3 [RCV001395361]likely benign7124847006124847006Human2name , alternate_id
127302524CV1117495single nucleotide variantNM_015450.3(POT1):c.950-7T>CTumor predisposition syndrome 3 [RCV001461657]likely benign7124847005124847005Human2name , alternate_id
127309887CV1117497single nucleotide variantNM_015450.3(POT1):c.870-4A>GHereditary cancer-predisposing syndrome [RCV002377763]|Tumor predisposition syndrome 3 [RCV001456471]likely benign7124851955124851955Human3name , alternate_id
127332661CV1117499single nucleotide variantNM_015450.3(POT1):c.547-4G>ATumor predisposition syndrome 3 [RCV001472374]likely benign7124859116124859116Human2name , alternate_id
127300161CV1117502single nucleotide variantNM_015450.3(POT1):c.256-6T>CTumor predisposition syndrome 3 [RCV001461033]likely benign7124863646124863646Human2name , alternate_id
127287172CV1138425single nucleotide variantNM_015450.3(POT1):c.949+9A>GTumor predisposition syndrome 3 [RCV001494784]likely benign7124851863124851863Human2name , alternate_id
127288776CV1138427single nucleotide variantNM_015450.3(POT1):c.703-9A>GTumor predisposition syndrome 3 [RCV001495412]likely benign7124853147124853147Human2name , alternate_id
150504797CV1211465single nucleotide variantNM_015450.3(POT1):c.9+306G>Tnot provided [RCV001595630]benign7124896859124896859Humanname
151881717CV1339818single nucleotide variantNM_015450.3(POT1):c.949+2T>GHereditary cancer-predisposing syndrome [RCV005264167]|Tumor predisposition syndrome 3 [RCV001999685]likely pathogenic7124851870124851870Human3name
151796500CV1347879single nucleotide variantNM_015450.3(POT1):c.703-1G>ATumor predisposition syndrome 3 [RCV001990556]likely pathogenic7124853139124853139Human2name
151874054CV1382375single nucleotide variantNM_015450.3(POT1):c.703-2A>CTumor predisposition syndrome 3 [RCV002019314]likely pathogenic7124853140124853140Human2name
151788016CV1412938single nucleotide variantNM_015450.3(POT1):c.869+4A>TTumor predisposition syndrome 3 [RCV001989791]uncertain significance7124852968124852968Human2name
151822952CV1415159single nucleotide variantNM_015450.3(POT1):c.546+4C>AHereditary cancer-predisposing syndrome [RCV002344054]|Tumor predisposition syndrome 3 [RCV001954945]uncertain significance7124863346124863346Human3name
151773139CV1417095single nucleotide variantNM_015450.3(POT1):c.702+1G>AHereditary cancer-predisposing syndrome [RCV002361339]|Tumor predisposition syndrome 3 [RCV001971377]likely pathogenic|uncertain significance7124858956124858956Human3name
151877116CV1460140single nucleotide variantNM_015450.3(POT1):c.255+3A>GHereditary cancer-predisposing syndrome [RCV004651924]|Tumor predisposition syndrome 3 [RCV002036392]uncertain significance7124870908124870908Human3name
151839636CV1462841single nucleotide variantNM_015450.3(POT1):c.124+2T>CHereditary cancer-predisposing syndrome [RCV004945905]|Tumor predisposition syndrome 3 [RCV002031665]likely pathogenic|uncertain significance7124892264124892264Human3name
151738106CV1500622single nucleotide variantNM_015450.3(POT1):c.702+6G>ATumor predisposition syndrome 3 [RCV001984960]uncertain significance7124858951124858951Human2name
152111791CV1539119single nucleotide variantNM_015450.3(POT1):c.870-7A>TTumor predisposition syndrome 3 [RCV002080353]likely benign7124851958124851958Human2name
152089006CV1541482single nucleotide variantNM_015450.3(POT1):c.10-18T>CTumor predisposition syndrome 3 [RCV002171578]likely benign7124892398124892398Human2name
152046775CV1548430single nucleotide variantNM_015450.3(POT1):c.10-11T>CTumor predisposition syndrome 3 [RCV002071688]likely benign7124892391124892391Human2name
152111357CV1552408single nucleotide variantNM_015450.3(POT1):c.10-13T>CTumor predisposition syndrome 3 [RCV002134526]likely benign7124892393124892393Human2name
152111790CV1552612single nucleotide variantNM_015450.3(POT1):c.10-16T>GTumor predisposition syndrome 3 [RCV002134577]likely benign7124892396124892396Human2name
152166078CV1557254single nucleotide variantNM_015450.3(POT1):c.10-19C>TTumor predisposition syndrome 3 [RCV002181863]likely benign7124892399124892399Human2name
152167583CV1577483single nucleotide variantNM_015450.3(POT1):c.869+8T>CTumor predisposition syndrome 3 [RCV002204744]likely benign7124852964124852964Human2name
152050849CV1610624deletionNM_015450.3(POT1):c.703-3delHereditary cancer-predisposing syndrome [RCV003382844]|Tumor predisposition syndrome 3 [RCV002127235]benign|uncertain significance7124853141124853141Human3name
152048390CV1622931duplicationNM_015450.3(POT1):c.10-18dupTumor predisposition syndrome 3 [RCV002126923]likely benign7124892397124892398Human2name
152081095CV1623182single nucleotide variantNM_015450.3(POT1):c.546+7A>GTumor predisposition syndrome 3 [RCV002170543]likely benign7124863343124863343Human2name
152157774CV1626251single nucleotide variantNM_015450.3(POT1):c.702+9T>ATumor predisposition syndrome 3 [RCV002180378]likely benign7124858948124858948Human2name
152143939CV1651569single nucleotide variantNM_015450.3(POT1):c.547-6T>CTumor predisposition syndrome 3 [RCV002138528]likely benign7124859118124859118Human2name
152029634CV1653378duplicationNM_015450.3(POT1):c.950-4dupTumor predisposition syndrome 3 [RCV002085867]likely benign7124847001124847002Human2name
152052916CV1658192single nucleotide variantNM_015450.3(POT1):c.950-5T>CHereditary cancer-predisposing syndrome [RCV004945933]|Tumor predisposition syndrome 3 [RCV002207741]likely benign|uncertain significance7124847003124847003Human3name
152165109CV1658579deletionNM_015450.3(POT1):c.702+7delTumor predisposition syndrome 3 [RCV002160383]likely benign7124858950124858950Human2name
155668779CV1799963single nucleotide variantNM_015450.3(POT1):c.546+3A>GHereditary cancer-predisposing syndrome [RCV002349717]|Tumor predisposition syndrome 3 [RCV003096748]uncertain significance7124863347124863347Human3name
155687943CV1817501single nucleotide variantNM_015450.3(POT1):c.870-4A>THereditary cancer-predisposing syndrome [RCV002373428]likely benign7124851955124851955Human1name
155691802CV1821472single nucleotide variantNM_015450.3(POT1):c.949+4A>GHereditary cancer-predisposing syndrome [RCV002374093]uncertain significance7124851868124851868Human1name
155692112CV1821535single nucleotide variantNM_015450.3(POT1):c.950-1G>AHereditary cancer-predisposing syndrome [RCV002374154]uncertain significance7124846999124846999Human1name
155726692CV1848669single nucleotide variantNM_015450.3(POT1):c.256-5C>AHereditary cancer-predisposing syndrome [RCV002433430]|Tumor predisposition syndrome 3 [RCV003746646]likely benign|uncertain significance7124863645124863645Human3name
156392736CV1924574single nucleotide variantNM_015450.3(POT1):c.10-12C>TTumor predisposition syndrome 3 [RCV002654538]likely benign7124892392124892392Human2name
156387021CV1986677single nucleotide variantNM_015450.3(POT1):c.547-7A>TTumor predisposition syndrome 3 [RCV002634678]likely benign|uncertain significance7124859119124859119Human2name
156052171CV2064604single nucleotide variantNM_015450.3(POT1):c.546+2T>GTumor predisposition syndrome 3 [RCV002846473]likely pathogenic7124863348124863348Human2name
156085288CV2095064single nucleotide variantNM_015450.3(POT1):c.702+8A>GTumor predisposition syndrome 3 [RCV002912841]uncertain significance7124858949124858949Human2name
156121499CV2128548single nucleotide variantNM_015450.3(POT1):c.125-8T>CTumor predisposition syndrome 3 [RCV002953515]likely benign7124871049124871049Human2name
155911967CV2153317single nucleotide variantNM_015450.3(POT1):c.869+6C>ATumor predisposition syndrome 3 [RCV003012323]uncertain significance7124852966124852966Human2name
156197551CV2159121single nucleotide variantNM_015450.3(POT1):c.869+1G>TTumor predisposition syndrome 3 [RCV003041857]likely pathogenic7124852971124852971Human2name
156397593CV2178452single nucleotide variantNM_015450.3(POT1):c.255+6A>GTumor predisposition syndrome 3 [RCV003052013]uncertain significance7124870905124870905Human2name
156334839CV2181996single nucleotide variantNM_015450.3(POT1):c.547-7A>GTumor predisposition syndrome 3 [RCV003047419]likely benign7124859119124859119Human2name
156370097CV2190700single nucleotide variantNM_015450.3(POT1):c.870-3T>GTumor predisposition syndrome 3 [RCV003066219]uncertain significance7124851954124851954Human2name
329385089CV2423020single nucleotide variantNM_015450.3(POT1):c.546+2T>CHereditary cancer-predisposing syndrome [RCV003177013]uncertain significance7124863348124863348Human1name
401798209CV2741300duplicationNM_015450.3(POT1):c.-39-8dupnot specified [RCV003322463]likely benign7124897219124897220Humanname
401854552CV2753319single nucleotide variantNM_015450.3(POT1):c.124+1G>AHereditary cancer-predisposing syndrome [RCV003338961]likely pathogenic7124892265124892265Human1name
405140132CV2882385single nucleotide variantNM_015450.3(POT1):c.949+7A>GTumor predisposition syndrome 3 [RCV003584057]likely benign7124851865124851865Human2name
405141650CV2900859single nucleotide variantNM_015450.3(POT1):c.546+6T>GTumor predisposition syndrome 3 [RCV003584181]uncertain significance7124863344124863344Human2name
405142508CV2917690single nucleotide variantNM_015450.3(POT1):c.125-4C>TTumor predisposition syndrome 3 [RCV003584297]likely benign7124871045124871045Human2name
405249684CV3000990single nucleotide variantNM_015450.3(POT1):c.125-5T>CTumor predisposition syndrome 3 [RCV003747231]uncertain significance7124871046124871046Human2name
405250029CV3011759single nucleotide variantNM_015450.3(POT1):c.949+1G>CTumor predisposition syndrome 3 [RCV003747376]likely pathogenic7124851871124851871Human2name
405250525CV3070339single nucleotide variantNM_015450.3(POT1):c.870-9C>GTumor predisposition syndrome 3 [RCV003747566]likely benign7124851960124851960Human2name
405202142CV3143622single nucleotide variantNM_015450.3(POT1):c.703-2A>TTumor predisposition syndrome 3 [RCV003844608]likely pathogenic7124853140124853140Human2name
402474734CV3182804single nucleotide variantNM_015450.3(POT1):c.870-7A>CTumor predisposition syndrome 3 [RCV003875048]likely benign7124851958124851958Human2name
405707159CV3384116single nucleotide variantNM_015450.3(POT1):c.546+4C>THereditary cancer-predisposing syndrome [RCV004521861]uncertain significance7124863346124863346Human1name
405707151CV3384117deletionNM_015450.3(POT1):c.547-2delHereditary cancer-predisposing syndrome [RCV004521862]uncertain significance7124859114124859114Human1name
407482210CV3461128single nucleotide variantNM_015450.3(POT1):c.950-2A>GHereditary cancer-predisposing syndrome [RCV004664728]uncertain significance7124847000124847000Human1name
407529336CV3471198single nucleotide variantNM_015450.3(POT1):c.125-3C>THereditary cancer-predisposing syndrome [RCV004655994]uncertain significance7124871044124871044Human1name
597662604CV3580842single nucleotide variantNM_015450.3(POT1):c.255+3A>THereditary cancer-predisposing syndrome [RCV004946531]uncertain significance7124870908124870908Human1name
597662885CV3580888single nucleotide variantNM_015450.3(POT1):c.870-2A>THereditary cancer-predisposing syndrome [RCV004946573]likely pathogenic7124851953124851953Human1name
597830661CV3743199single nucleotide variantNM_015450.3(POT1):c.547-7A>CTumor predisposition syndrome 3 [RCV005062207]likely benign7124859119124859119Human2name
597946460CV3790138single nucleotide variantNM_015450.3(POT1):c.870-1G>ATumor predisposition syndrome 3 [RCV005134839]likely pathogenic7124851952124851952Human2name
597972661CV3790449single nucleotide variantNM_015450.3(POT1):c.949+1G>TTumor predisposition syndrome 3 [RCV005142872]likely pathogenic7124851871124851871Human2name
597950619CV3798122single nucleotide variantNM_015450.3(POT1):c.10-15C>TTumor predisposition syndrome 3 [RCV005135902]likely benign7124892395124892395Human2name
597973562CV3801452single nucleotide variantNM_015450.3(POT1):c.950-6T>CTumor predisposition syndrome 3 [RCV005143441]likely benign7124847004124847004Human2name
597976012CV3829028single nucleotide variantNM_015450.3(POT1):c.547-8T>CTumor predisposition syndrome 3 [RCV005169477]likely benign7124859120124859120Human2name
597961984CV3840897single nucleotide variantNM_015450.3(POT1):c.869+6C>GTumor predisposition syndrome 3 [RCV005193190]uncertain significance7124852966124852966Human2name
13216416CV428665single nucleotide variantNM_015450.3(POT1):c.*1507A>Gnot specified [RCV000503734]uncertain significance7124822455124822455Humanname
13497020CV457152single nucleotide variantNM_015450.3(POT1):c.124+7A>GTumor predisposition syndrome 3 [RCV000538251]likely benign7124892259124892259Human2name , alternate_id
13496847CV474503single nucleotide variantNM_015450.3(POT1):c.870-3T>CHereditary cancer-predisposing syndrome [RCV000572598]|Tumor predisposition syndrome 3 [RCV001373990]likely benign|uncertain significance7124851954124851954Human3name , alternate_id
13540100CV501796single nucleotide variantNM_015450.3(POT1):c.702+8A>TTumor predisposition syndrome 3 [RCV002066725]|not provided [RCV004712908]|not specified [RCV000614230]benign7124858949124858949Human2name , alternate_id
13525221CV502190single nucleotide variantNM_015450.3(POT1):c.702+9T>GTumor predisposition syndrome 3 [RCV002066726]|not provided [RCV004712909]|not specified [RCV000602865]benign7124858948124858948Human2name , alternate_id
13624402CV522376single nucleotide variantNM_015450.3(POT1):c.870-7A>GTumor predisposition syndrome 3 [RCV000652229]uncertain significance7124851958124851958Human2name , alternate_id
13624385CV522497single nucleotide variantNM_015450.3(POT1):c.547-3C>AHereditary cancer-predisposing syndrome [RCV002343376]|Tumor predisposition syndrome 3 [RCV000652208]|not provided [RCV001766415]|not specified [RCV001816635]uncertain significance7124859115124859115Human3name , alternate_id
13805869CV561282single nucleotide variantNM_015450.3(POT1):c.124+5G>THereditary cancer-predisposing syndrome [RCV003163249]|Tumor predisposition syndrome 3 [RCV000700329]uncertain significance7124892261124892261Human3name , alternate_id
13817864CV561370single nucleotide variantNM_015450.3(POT1):c.124+1G>CHereditary cancer-predisposing syndrome [RCV004026749]|Tumor predisposition syndrome 3 [RCV000707305]|not provided [RCV001547559]pathogenic|likely pathogenic|uncertain significance7124892265124892265Human3name , alternate_id
14397275CV612772single nucleotide variantNM_015450.3(POT1):c.125-2A>GHereditary cancer-predisposing syndrome [RCV003166028]|Tumor predisposition syndrome 3 [RCV001869049]|not provided [RCV000762479]likely pathogenic7124871043124871043Human3name , alternate_id
14705694CV651657single nucleotide variantNM_015450.3(POT1):c.255+1G>AHereditary cancer-predisposing syndrome [RCV002424851]|Tumor predisposition syndrome 3 [RCV000801661]pathogenic|likely pathogenic|uncertain significance7124870910124870910Human3name , alternate_id
14703941CV651658single nucleotide variantNM_015450.3(POT1):c.870-9C>ATumor predisposition syndrome 3 [RCV000795733]likely benign|uncertain significance7124851960124851960Human2name , alternate_id
14737653CV662559single nucleotide variantNM_015450.3(POT1):c.9+179A>Gnot provided [RCV000839015]benign7124896986124896986Humanname
15176511CV775252duplicationNM_015450.3(POT1):c.703-3dupHereditary cancer-predisposing syndrome [RCV004944730]|Tumor predisposition syndrome 3 [RCV001456489]likely benign7124853140124853141Human3name
25325772CV815371single nucleotide variantNM_015450.3(POT1):c.703-3T>GHereditary cancer-predisposing syndrome [RCV001025953]|Tumor predisposition syndrome 3 [RCV003769619]uncertain significance7124853141124853141Human3name
25325750CV815372single nucleotide variantNM_015450.3(POT1):c.702+5T>CHereditary cancer-predisposing syndrome [RCV001025936]|Tumor predisposition syndrome 3 [RCV001050217]likely benign|uncertain significance7124858952124858952Human3name
25328545CV815373single nucleotide variantNM_015450.3(POT1):c.256-3T>CHereditary cancer-predisposing syndrome [RCV001015963]|Tumor predisposition syndrome 3 [RCV002551788]likely benign|uncertain significance7124863643124863643Human3name
25328526CV815374single nucleotide variantNM_015450.3(POT1):c.255+5A>GHereditary cancer-predisposing syndrome [RCV001015925]|Tumor predisposition syndrome 3 [RCV001873267]uncertain significance7124870906124870906Human3name
25323401CV815375deletionNM_015450.3(POT1):c.125-3delHereditary cancer-predisposing syndrome [RCV001010567]|Tumor predisposition syndrome 3 [RCV002068827]likely benign|uncertain significance7124871044124871044Human3name
26899208CV852054single nucleotide variantNM_015450.3(POT1):c.125-3C>ATumor predisposition syndrome 3 [RCV001034928]uncertain significance7124871044124871044Human2name
26893023CV852324single nucleotide variantNM_015450.3(POT1):c.547-3C>THereditary cancer-predisposing syndrome [RCV002348476]|Tumor predisposition syndrome 3 [RCV001068923]uncertain significance7124859115124859115Human3name
26901939CV852329single nucleotide variantNM_015450.3(POT1):c.546+5A>GHereditary cancer-predisposing syndrome [RCV002348489]|Tumor predisposition syndrome 3 [RCV001071728]likely benign|uncertain significance7124863345124863345Human3name
38469276CV940060single nucleotide variantNM_015450.3(POT1):c.949+5G>AHereditary cancer-predisposing syndrome [RCV004033533]|Tumor predisposition syndrome 3 [RCV001202382]uncertain significance7124851867124851867Human3name
38458545CV940061single nucleotide variantNM_015450.3(POT1):c.546+1G>ATumor predisposition syndrome 3 [RCV001211438]likely pathogenic|uncertain significance7124863349124863349Human2name
38458648CV960622single nucleotide variantNM_015450.3(POT1):c.702+4A>GTumor predisposition syndrome 3 [RCV001246386]|not provided [RCV004719114]uncertain significance7124858953124858953Human2name
126754852CV992006single nucleotide variantNM_015450.3(POT1):c.546+4C>GTumor predisposition syndrome 3 [RCV001298221]uncertain significance7124863346124863346Human2name , alternate_id
126726840CV992011single nucleotide variantNM_015450.3(POT1):c.255+1G>THereditary cancer-predisposing syndrome [RCV002451679]|Tumor predisposition syndrome 3 [RCV001303012]pathogenic|likely pathogenic|uncertain significance7124870910124870910Human3name , alternate_id
126758640CV1027673single nucleotide variantNM_015450.3(POT1):c.1687-4T>CHereditary cancer-predisposing syndrome [RCV003294332]|Tumor predisposition syndrome 3 [RCV001339902]likely benign|uncertain significance7124825361124825361Human3name , alternate_id
126771849CV1027675single nucleotide variantNM_015450.3(POT1):c.1595-4C>THereditary cancer-predisposing syndrome [RCV004651597]|Tumor predisposition syndrome 3 [RCV001345284]likely benign|uncertain significance7124827309124827309Human3name , alternate_id
127255642CV1074352single nucleotide variantNM_015450.3(POT1):c.547-10C>TTumor predisposition syndrome 3 [RCV001401065]|not provided [RCV003738063]likely benign7124859122124859122Human2name , alternate_id
127268213CV1095959single nucleotide variantNM_015450.3(POT1):c.1595-8T>CTumor predisposition syndrome 3 [RCV001429892]likely benign7124827313124827313Human2name , alternate_id
127246874CV1095966single nucleotide variantNM_015450.3(POT1):c.1164-9T>CTumor predisposition syndrome 3 [RCV001424585]likely benign7124841187124841187Human2name , alternate_id
127250493CV1095978single nucleotide variantNM_015450.3(POT1):c.256-10A>GTumor predisposition syndrome 3 [RCV001436352]likely benign7124863650124863650Human2name , alternate_id
127332646CV1138424single nucleotide variantNM_015450.3(POT1):c.950-10C>ATumor predisposition syndrome 3 [RCV001489638]likely benign7124847008124847008Human2name , alternate_id
150412758CV1197630single nucleotide variantNM_015450.3(POT1):c.10-117T>Cnot provided [RCV001574428]likely benign7124892497124892497Humanname
150421606CV1197631single nucleotide variantNM_015450.3(POT1):c.10-316T>Anot provided [RCV001578106]likely benign7124892696124892696Humanname
150498654CV1255615single nucleotide variantNM_015450.3(POT1):c.-40+30C>Tnot provided [RCV001676403]benign7124898231124898231Humanname
150478634CV1271092single nucleotide variantNM_015450.3(POT1):c.10-282G>Anot provided [RCV001696528]benign7124892662124892662Humanname
151755035CV1391516single nucleotide variantNM_015450.3(POT1):c.1163+1G>CTumor predisposition syndrome 3 [RCV001969583]likely pathogenic7124842806124842806Human2name
151878960CV1395482single nucleotide variantNM_015450.3(POT1):c.1506-1G>AHereditary cancer-predisposing syndrome [RCV002389015]|Tumor predisposition syndrome 3 [RCV001999284]likely pathogenic7124829343124829343Human3name
151833427CV1416562single nucleotide variantNM_015450.3(POT1):c.703-20A>GTumor predisposition syndrome 3 [RCV002014532]likely benign|uncertain significance7124853158124853158Human2name
8693179CV143165single nucleotide variantNM_015450.3(POT1):c.1687-1G>ATumor predisposition syndrome 3 [RCV000128421]|not provided [RCV004691758]likely pathogenic|risk factor|uncertain significance7124825358124825358Human2name
151803987CV1444087single nucleotide variantNM_015450.3(POT1):c.1006+7C>GTumor predisposition syndrome 3 [RCV001917968]uncertain significance7124846935124846935Human2name
151776252CV1450544single nucleotide variantNM_015450.3(POT1):c.1007-8C>GTumor predisposition syndrome 3 [RCV001915462]likely benign|uncertain significance7124842971124842971Human2name
151757024CV1474899single nucleotide variantNM_015450.3(POT1):c.1793-3T>GTumor predisposition syndrome 3 [RCV001969768]uncertain significance7124824077124824077Human2name
151748001CV1478741single nucleotide variantNM_015450.3(POT1):c.1595-2A>GTumor predisposition syndrome 3 [RCV002023058]likely pathogenic7124827307124827307Human2name
151791026CV1489902single nucleotide variantNM_015450.3(POT1):c.1369+5G>ATumor predisposition syndrome 3 [RCV001952053]|Tumor predisposition syndrome 3 [RCV005031885]likely benign|uncertain significance7124840968124840968Human4name
151797336CV1503809single nucleotide variantNM_015450.3(POT1):c.1006+3A>GHereditary cancer-predisposing syndrome [RCV002407224]|Tumor predisposition syndrome 3 [RCV001973592]uncertain significance7124846939124846939Human3name
152108697CV1520084single nucleotide variantNM_015450.3(POT1):c.255+11T>CTumor predisposition syndrome 3 [RCV002134201]likely benign7124870900124870900Human2name
152083734CV1525375single nucleotide variantNM_015450.3(POT1):c.256-12C>TTumor predisposition syndrome 3 [RCV002131161]likely benign7124863652124863652Human2name
152088463CV1527450single nucleotide variantNM_015450.3(POT1):c.1506-9A>GTumor predisposition syndrome 3 [RCV002093839]likely benign7124829351124829351Human2name
152112449CV1541804single nucleotide variantNM_015450.3(POT1):c.702+13A>GTumor predisposition syndrome 3 [RCV002116729]likely benign7124858944124858944Human2name
152132284CV1545129single nucleotide variantNM_015450.3(POT1):c.1006+7C>TTumor predisposition syndrome 3 [RCV002119243]likely benign7124846935124846935Human2name
152168059CV1547867single nucleotide variantNM_015450.3(POT1):c.124+18T>ATumor predisposition syndrome 3 [RCV002161016]likely benign7124892248124892248Human2name
152043659CV1552007single nucleotide variantNM_015450.3(POT1):c.125-11G>ATumor predisposition syndrome 3 [RCV002166018]likely benign7124871052124871052Human2name
152158422CV1552990single nucleotide variantNM_015450.3(POT1):c.870-18G>CTumor predisposition syndrome 3 [RCV002180488]likely benign7124851969124851969Human2name
152131262CV1553081single nucleotide variantNM_015450.3(POT1):c.869+12G>ATumor predisposition syndrome 3 [RCV002199354]|not specified [RCV003321901]likely benign7124852960124852960Human2name
152089920CV1563185single nucleotide variantNM_015450.3(POT1):c.869+14A>GTumor predisposition syndrome 3 [RCV002113934]likely benign7124852958124852958Human2name
152154814CV1563678single nucleotide variantNM_015450.3(POT1):c.255+19A>GTumor predisposition syndrome 3 [RCV002202517]likely benign7124870892124870892Human2name
152174714CV1567482single nucleotide variantNM_015450.3(POT1):c.949+15T>CTumor predisposition syndrome 3 [RCV002163249]likely benign7124851857124851857Human2name
152083408CV1569454single nucleotide variantNM_015450.3(POT1):c.1369+8A>GTumor predisposition syndrome 3 [RCV002113064]likely benign7124840965124840965Human2name
152053894CV1575107single nucleotide variantNM_015450.3(POT1):c.702+14G>ATumor predisposition syndrome 3 [RCV002109307]likely benign7124858943124858943Human2name
152129903CV1583970single nucleotide variantNM_015450.3(POT1):c.547-15A>CTumor predisposition syndrome 3 [RCV002199181]likely benign7124859127124859127Human2name
152161756CV1584578single nucleotide variantNM_015450.3(POT1):c.547-11T>CTumor predisposition syndrome 3 [RCV002123327]likely benign7124859123124859123Human2name
152079180CV1596754deletionNM_015450.3(POT1):c.950-19delTumor predisposition syndrome 3 [RCV002092621]likely benign7124847017124847017Human2name
152072382CV1597735single nucleotide variantNM_015450.3(POT1):c.870-20T>ATumor predisposition syndrome 3 [RCV002169467]likely benign7124851971124851971Human2name
152172094CV1597992single nucleotide variantNM_015450.3(POT1):c.870-18G>ATumor predisposition syndrome 3 [RCV002162334]likely benign7124851969124851969Human2name
152172549CV1599175single nucleotide variantNM_015450.3(POT1):c.1505+8G>TTumor predisposition syndrome 3 [RCV002143816]likely benign7124835271124835271Human2name
152036500CV1617666single nucleotide variantNM_015450.3(POT1):c.124+18T>CTumor predisposition syndrome 3 [RCV002125419]likely benign7124892248124892248Human2name
152061865CV1618599single nucleotide variantNM_015450.3(POT1):c.124+15T>CTumor predisposition syndrome 3 [RCV002090345]likely benign7124892251124892251Human2name
152096508CV1623307single nucleotide variantNM_015450.3(POT1):c.702+11G>TTumor predisposition syndrome 3 [RCV002213429]likely benign7124858946124858946Human2name
152074981CV1635336single nucleotide variantNM_015450.3(POT1):c.546+17A>CTumor predisposition syndrome 3 [RCV002092101]likely benign7124863333124863333Human2name
152161984CV1635663single nucleotide variantNM_015450.3(POT1):c.256-15G>ATumor predisposition syndrome 3 [RCV002203589]likely benign7124863655124863655Human2name
152150385CV1636244single nucleotide variantNM_015450.3(POT1):c.702+16A>GTumor predisposition syndrome 3 [RCV002102138]likely benign7124858941124858941Human2name
152074689CV1638270single nucleotide variantNM_015450.3(POT1):c.256-16T>CTumor predisposition syndrome 3 [RCV002192254]likely benign7124863656124863656Human2name
152115521CV1640007single nucleotide variantNM_015450.3(POT1):c.124+14C>TTumor predisposition syndrome 3 [RCV002080835]likely benign7124892252124892252Human2name
152123442CV1641125single nucleotide variantNM_015450.3(POT1):c.870-13C>GTumor predisposition syndrome 3 [RCV002098480]|not provided [RCV003128845]likely benign|uncertain significance7124851964124851964Human2name
152108623CV1648315single nucleotide variantNM_015450.3(POT1):c.547-20A>GTumor predisposition syndrome 3 [RCV002116251]likely benign7124859132124859132Human2name
152064302CV1652272single nucleotide variantNM_015450.3(POT1):c.547-16T>CTumor predisposition syndrome 3 [RCV002090670]likely benign7124859128124859128Human2name
152083247CV1655076single nucleotide variantNM_015450.3(POT1):c.546+11T>CTumor predisposition syndrome 3 [RCV002113043]likely benign7124863339124863339Human2name
152028792CV1655401single nucleotide variantNM_015450.3(POT1):c.702+15G>ATumor predisposition syndrome 3 [RCV002105360]likely benign7124858942124858942Human2name
152060282CV1659517single nucleotide variantNM_015450.3(POT1):c.125-16T>CTumor predisposition syndrome 3 [RCV002073592]likely benign7124871057124871057Human2name
152079649CV1663460single nucleotide variantNM_015450.3(POT1):c.256-20A>GTumor predisposition syndrome 3 [RCV002149138]likely benign7124863660124863660Human2name
153001075CV1684317single nucleotide variantNM_015450.3(POT1):c.-153-5T>CHereditary cancer-predisposing syndrome [RCV002255788]uncertain significance7124898379124898379Human1name
153001499CV1684318duplicationNM_015450.3(POT1):c.-153-9dupHereditary cancer-predisposing syndrome [RCV002256962]likely benign7124898382124898383Human1name
153302563CV1689789single nucleotide variantNM_015450.3(POT1):c.950-40T>Cnot specified [RCV002268687]likely benign7124847038124847038Humanname
153302574CV1689795single nucleotide variantNM_015450.3(POT1):c.949+40A>Gnot specified [RCV002268693]likely benign7124851832124851832Humanname
153302607CV1689817single nucleotide variantNM_015450.3(POT1):c.702+30T>Cnot specified [RCV002268715]likely benign7124858927124858927Humanname
153302612CV1689822single nucleotide variantNM_015450.3(POT1):c.546+44A>Cnot specified [RCV002268720]likely benign7124863306124863306Humanname
155733448CV1836119single nucleotide variantNM_015450.3(POT1):c.1369+1G>AHereditary cancer-predisposing syndrome [RCV002383637]likely pathogenic7124840972124840972Human1name
155733452CV1836120single nucleotide variantNM_015450.3(POT1):c.1369+1G>THereditary cancer-predisposing syndrome [RCV002383638]likely pathogenic7124840972124840972Human1name
155723978CV1837962deletionNM_015450.3(POT1):c.1687-2delHereditary cancer-predisposing syndrome [RCV002406102]uncertain significance7124825359124825359Human1name
155744167CV1842960single nucleotide variantNM_015450.3(POT1):c.1006+5G>AHereditary cancer-predisposing syndrome [RCV002413141]uncertain significance7124846937124846937Human1name
155799395CV1859791single nucleotide variantNM_015450.3(POT1):c.547-38C>Tnot specified [RCV002466035]likely benign7124859150124859150Humanname
156232001CV1885191single nucleotide variantNM_015450.3(POT1):c.547-17C>GTumor predisposition syndrome 3 [RCV003085403]likely benign7124859129124859129Human2name
156416327CV1904923duplicationNM_015450.3(POT1):c.1370-6dupTumor predisposition syndrome 3 [RCV002610113]likely benign7124835419124835420Human2name
156352942CV1923733single nucleotide variantNM_015450.3(POT1):c.547-12C>TTumor predisposition syndrome 3 [RCV002651035]likely benign7124859124124859124Human2name
156446236CV1951273single nucleotide variantNM_015450.3(POT1):c.1793-4G>AHereditary cancer-predisposing syndrome [RCV003294634]|Tumor predisposition syndrome 3 [RCV003117206]likely benign7124824078124824078Human3name
156079747CV1959806single nucleotide variantNM_015450.3(POT1):c.546+12T>CTumor predisposition syndrome 3 [RCV002569870]likely benign7124863338124863338Human2name
156353505CV1962195single nucleotide variantNM_015450.3(POT1):c.703-16A>GTumor predisposition syndrome 3 [RCV002581226]likely benign7124853154124853154Human2name
156396125CV1985161single nucleotide variantNM_015450.3(POT1):c.949+20T>CTumor predisposition syndrome 3 [RCV002635497]likely benign7124851852124851852Human2name
156101620CV2011618single nucleotide variantNM_015450.3(POT1):c.949+19A>CTumor predisposition syndrome 3 [RCV002695328]likely benign7124851853124851853Human2name
156113581CV2018656single nucleotide variantNM_015450.3(POT1):c.256-19C>TTumor predisposition syndrome 3 [RCV002695764]likely benign7124863659124863659Human2name
155981288CV2025202single nucleotide variantNM_015450.3(POT1):c.125-19A>GTumor predisposition syndrome 3 [RCV002755338]uncertain significance7124871060124871060Human2name
155920029CV2027338single nucleotide variantNM_015450.3(POT1):c.547-12C>GTumor predisposition syndrome 3 [RCV002750669]likely benign|uncertain significance7124859124124859124Human2name
156092523CV2030676single nucleotide variantNM_015450.3(POT1):c.255+15G>TTumor predisposition syndrome 3 [RCV002761001]likely benign7124870896124870896Human2name
156193303CV2066472single nucleotide variantNM_015450.3(POT1):c.1163+8T>CTumor predisposition syndrome 3 [RCV002828681]likely benign7124842799124842799Human2name
156050535CV2068367single nucleotide variantNM_015450.3(POT1):c.1164-3T>GTumor predisposition syndrome 3 [RCV002846420]uncertain significance7124841181124841181Human2name
156213577CV2074371single nucleotide variantNM_015450.3(POT1):c.547-14C>GTumor predisposition syndrome 3 [RCV002829395]uncertain significance7124859126124859126Human2name
156168989CV2075441single nucleotide variantNM_015450.3(POT1):c.1594+1G>CTumor predisposition syndrome 3 [RCV002851473]likely pathogenic7124829253124829253Human2name
155973467CV2079359single nucleotide variantNM_015450.3(POT1):c.1793-6T>CTumor predisposition syndrome 3 [RCV002881594]likely benign7124824080124824080Human2name
156211884CV2087256single nucleotide variantNM_015450.3(POT1):c.870-14T>ATumor predisposition syndrome 3 [RCV002852858]likely benign7124851965124851965Human2name
156258536CV2090156deletionNM_015450.3(POT1):c.869+14delTumor predisposition syndrome 3 [RCV002877187]likely benign7124852958124852958Human2name
156329691CV2094704single nucleotide variantNM_015450.3(POT1):c.124+19G>ATumor predisposition syndrome 3 [RCV002899847]likely benign7124892247124892247Human2name
156266543CV2097115single nucleotide variantNM_015450.3(POT1):c.1594+2T>CTumor predisposition syndrome 3 [RCV002877458]likely pathogenic7124829252124829252Human2name
156239474CV2115841single nucleotide variantNM_015450.3(POT1):c.547-13T>GTumor predisposition syndrome 3 [RCV002919243]uncertain significance7124859125124859125Human2name
156036194CV2124424single nucleotide variantNM_015450.3(POT1):c.1793-9T>ATumor predisposition syndrome 3 [RCV002923723]likely benign7124824083124824083Human2name
155946328CV2130251single nucleotide variantNM_015450.3(POT1):c.703-14G>CTumor predisposition syndrome 3 [RCV002971601]likely benign7124853152124853152Human2name
156347957CV2146675single nucleotide variantNM_015450.3(POT1):c.950-17C>TTumor predisposition syndrome 3 [RCV003030664]likely benign7124847015124847015Human2name
156125515CV2147499deletionNM_015450.3(POT1):c.125-12delTumor predisposition syndrome 3 [RCV003021968]benign7124871053124871053Human2name
155907535CV2148272deletionNM_015450.3(POT1):c.950-18delTumor predisposition syndrome 3 [RCV003012013]likely benign7124847016124847016Human2name
156001159CV2149578single nucleotide variantNM_015450.3(POT1):c.255+12A>GTumor predisposition syndrome 3 [RCV002997026]likely benign7124870899124870899Human2name
156153500CV2150637single nucleotide variantNM_015450.3(POT1):c.950-17C>GTumor predisposition syndrome 3 [RCV003022935]uncertain significance7124847015124847015Human2name
155930753CV2155844single nucleotide variantNM_015450.3(POT1):c.1370-7T>CTumor predisposition syndrome 3 [RCV003013618]likely benign|uncertain significance7124835421124835421Human2name
156321584CV2166591single nucleotide variantNM_015450.3(POT1):c.1506-5T>GTumor predisposition syndrome 3 [RCV003029201]uncertain significance7124829347124829347Human2name
156268843CV2167910single nucleotide variantNM_015450.3(POT1):c.703-18A>GTumor predisposition syndrome 3 [RCV003026913]likely benign7124853156124853156Human2name
156212347CV2170961single nucleotide variantNM_015450.3(POT1):c.1506-4T>GTumor predisposition syndrome 3 [RCV003042380]likely benign7124829346124829346Human2name
156007196CV2175611single nucleotide variantNM_015450.3(POT1):c.1595-1G>ATumor predisposition syndrome 3 [RCV003035050]likely pathogenic7124827306124827306Human2name
156119712CV2183209single nucleotide variantNM_015450.3(POT1):c.702+11G>ATumor predisposition syndrome 3 [RCV003039265]likely benign7124858946124858946Human2name
156266807CV2189271single nucleotide variantNM_015450.3(POT1):c.1793-7T>GTumor predisposition syndrome 3 [RCV003044312]likely benign7124824081124824081Human2name
329370062CV2435461single nucleotide variantNM_015450.3(POT1):c.1793-4G>CHereditary cancer-predisposing syndrome [RCV003184086]likely benign7124824078124824078Human1name
401795947CV2740073single nucleotide variantNM_015450.3(POT1):c.547-46C>Anot specified [RCV003320308]likely benign7124859158124859158Humanname
401798146CV2741285deletionNM_015450.3(POT1):c.870-21delnot specified [RCV003322448]likely benign7124851972124851972Humanname
401798148CV2741286single nucleotide variantNM_015450.3(POT1):c.869+48G>Anot specified [RCV003322449]likely benign7124852924124852924Humanname
401798168CV2741295single nucleotide variantNM_015450.3(POT1):c.546+27A>Gnot specified [RCV003322458]uncertain significance7124863323124863323Humanname
401899675CV2758024single nucleotide variantNM_015450.3(POT1):c.1594+3T>CHereditary cancer-predisposing syndrome [RCV003377996]|Tumor predisposition syndrome 3 [RCV003585386]uncertain significance7124829251124829251Human3name
405008868CV2853135single nucleotide variantNM_015450.3(POT1):c.702+12T>Anot specified [RCV003494329]likely benign7124858945124858945Humanname
405149015CV2855704duplicationNM_015450.3(POT1):c.1006+8dupTumor predisposition syndrome 3 [RCV003585479]likely benign7124846933124846934Human2name
405149228CV2862725single nucleotide variantNM_015450.3(POT1):c.546+20G>ATumor predisposition syndrome 3 [RCV003585499]likely benign7124863330124863330Human2name
405150243CV2880451single nucleotide variantNM_015450.3(POT1):c.1370-9T>CTumor predisposition syndrome 3 [RCV003585588]uncertain significance7124835423124835423Human2name
405139901CV2885359single nucleotide variantNM_015450.3(POT1):c.869+13T>CTumor predisposition syndrome 3 [RCV003584033]likely benign7124852959124852959Human2name
405140501CV2886304single nucleotide variantNM_015450.3(POT1):c.949+14T>GTumor predisposition syndrome 3 [RCV003584068]likely benign7124851858124851858Human2name
405140696CV2889910single nucleotide variantNM_015450.3(POT1):c.547-16T>ATumor predisposition syndrome 3 [RCV003584085]likely benign7124859128124859128Human2name
405139866CV2892073single nucleotide variantNM_015450.3(POT1):c.703-19C>GTumor predisposition syndrome 3 [RCV003584029]likely benign7124853157124853157Human2name
405140989CV2894381single nucleotide variantNM_015450.3(POT1):c.869+20A>GTumor predisposition syndrome 3 [RCV003584113]likely benign7124852952124852952Human2name
405142460CV2910473single nucleotide variantNM_015450.3(POT1):c.703-12T>CTumor predisposition syndrome 3 [RCV003584292]likely benign7124853150124853150Human2name
405143921CV2912469single nucleotide variantNM_015450.3(POT1):c.1506-8A>GTumor predisposition syndrome 3 [RCV003584217]uncertain significance7124829350124829350Human2name
405142549CV2918038single nucleotide variantNM_015450.3(POT1):c.1792+5G>THereditary cancer-predisposing syndrome [RCV004943116]|Tumor predisposition syndrome 3 [RCV003584301]likely benign|uncertain significance7124825247124825247Human3name
405143964CV2920953single nucleotide variantNM_015450.3(POT1):c.1505+2T>CTumor predisposition syndrome 3 [RCV003584287]likely pathogenic7124835277124835277Human2name
405248360CV2938374single nucleotide variantNM_015450.3(POT1):c.870-13C>ATumor predisposition syndrome 3 [RCV003746750]likely benign7124851964124851964Human2name
405248724CV2956413single nucleotide variantNM_015450.3(POT1):c.547-15A>GTumor predisposition syndrome 3 [RCV003746890]likely benign7124859127124859127Human2name
405249051CV2965348single nucleotide variantNM_015450.3(POT1):c.547-14C>ATumor predisposition syndrome 3 [RCV003746972]likely benign7124859126124859126Human2name
405249301CV2980693single nucleotide variantNM_015450.3(POT1):c.124+18T>GTumor predisposition syndrome 3 [RCV003747054]likely benign7124892248124892248Human2name
405249486CV2982198single nucleotide variantNM_015450.3(POT1):c.1164-6T>CTumor predisposition syndrome 3 [RCV003747147]likely benign7124841184124841184Human2name
405249613CV2983618single nucleotide variantNM_015450.3(POT1):c.1505+7T>CTumor predisposition syndrome 3 [RCV003747201]likely benign7124835272124835272Human2name
405249607CV2990239single nucleotide variantNM_015450.3(POT1):c.702+10A>GTumor predisposition syndrome 3 [RCV003747198]uncertain significance7124858947124858947Human2name
405250002CV2990315single nucleotide variantNM_015450.3(POT1):c.1793-5T>CHereditary cancer-predisposing syndrome [RCV004943161]|Tumor predisposition syndrome 3 [RCV003747214]likely benign|uncertain significance7124824079124824079Human3name
405250066CV3005025single nucleotide variantNM_015450.3(POT1):c.1163+6T>CTumor predisposition syndrome 3 [RCV003747392]uncertain significance7124842801124842801Human2name
405246679CV3007074deletionNM_015450.3(POT1):c.869+17delTumor predisposition syndrome 3 [RCV003746075]likely benign7124852955124852955Human2name
405250045CV3008487single nucleotide variantNM_015450.3(POT1):c.869+19G>CTumor predisposition syndrome 3 [RCV003747383]likely benign7124852953124852953Human2name
405246624CV3013446single nucleotide variantNM_015450.3(POT1):c.546+18C>GTumor predisposition syndrome 3 [RCV003746057]likely benign7124863332124863332Human2name
405247247CV3038203single nucleotide variantNM_015450.3(POT1):c.1369+9T>CTumor predisposition syndrome 3 [RCV003746297]likely benign7124840964124840964Human2name
405250618CV3076498single nucleotide variantNM_015450.3(POT1):c.256-11T>CTumor predisposition syndrome 3 [RCV003747604]likely benign7124863651124863651Human2name
405250675CV3080620single nucleotide variantNM_015450.3(POT1):c.869+20A>CTumor predisposition syndrome 3 [RCV003747651]likely benign7124852952124852952Human2name
405070776CV3145340single nucleotide variantNM_015450.3(POT1):c.1370-4A>GHereditary cancer-predisposing syndrome [RCV004654366]|Tumor predisposition syndrome 3 [RCV003850925]uncertain significance7124835418124835418Human3name
405168611CV3149860duplicationNM_015450.3(POT1):c.1686+6dupTumor predisposition syndrome 3 [RCV003841331]likely benign7124827207124827208Human2name
405211687CV3173501single nucleotide variantNM_015450.3(POT1):c.255+15G>ATumor predisposition syndrome 3 [RCV003862250]likely benign7124870896124870896Human2name
405706757CV3384082single nucleotide variantNM_015450.3(POT1):c.1006+1G>AHereditary cancer-predisposing syndrome [RCV004521827]uncertain significance7124846941124846941Human1name
405706775CV3384084single nucleotide variantNM_015450.3(POT1):c.10-392A>GHereditary cancer-predisposing syndrome [RCV004521829]uncertain significance7124892772124892772Human1name
405706856CV3384095single nucleotide variantNM_015450.3(POT1):c.1506-1G>THereditary cancer-predisposing syndrome [RCV004521840]likely pathogenic7124829343124829343Human1name
405707281CV3384099single nucleotide variantNM_015450.3(POT1):c.1594+1G>THereditary cancer-predisposing syndrome [RCV004521844]likely pathogenic7124829253124829253Human1name
407525203CV3471190single nucleotide variantNM_015450.3(POT1):c.1792+3A>GHereditary cancer-predisposing syndrome [RCV004654012]uncertain significance7124825249124825249Human1name
597662749CV3580868deletionNM_015450.3(POT1):c.1505+1delHereditary cancer-predisposing syndrome [RCV004946554]likely pathogenic7124835278124835278Human1name
597969303CV3761285single nucleotide variantNM_015450.3(POT1):c.1506-9A>TTumor predisposition syndrome 3 [RCV005083672]likely benign7124829351124829351Human2name
597952106CV3765557single nucleotide variantNM_015450.3(POT1):c.1164-5T>ATumor predisposition syndrome 3 [RCV005121201]uncertain significance7124841183124841183Human2name
597950783CV3768720single nucleotide variantNM_015450.3(POT1):c.949+12C>GTumor predisposition syndrome 3 [RCV005120906]likely benign7124851860124851860Human2name
597947937CV3771794single nucleotide variantNM_015450.3(POT1):c.1595-2A>TTumor predisposition syndrome 3 [RCV005120320]likely pathogenic7124827307124827307Human2name
597905743CV3772980single nucleotide variantNM_015450.3(POT1):c.546+18C>ATumor predisposition syndrome 3 [RCV005113044]likely benign7124863332124863332Human2name
597926913CV3778555single nucleotide variantNM_015450.3(POT1):c.125-18T>CTumor predisposition syndrome 3 [RCV005131078]likely benign7124871059124871059Human2name
597932949CV3780839single nucleotide variantNM_015450.3(POT1):c.869+11A>CTumor predisposition syndrome 3 [RCV005116951]likely benign7124852961124852961Human2name
597910367CV3782124single nucleotide variantNM_015450.3(POT1):c.124+20G>TTumor predisposition syndrome 3 [RCV005128616]likely benign7124892246124892246Human2name
597945763CV3786984single nucleotide variantNM_015450.3(POT1):c.1007-7T>CTumor predisposition syndrome 3 [RCV005119804]likely benign7124842970124842970Human2name
597918511CV3789746single nucleotide variantNM_015450.3(POT1):c.125-14T>ATumor predisposition syndrome 3 [RCV005129841]likely benign7124871055124871055Human2name
597934695CV3793630single nucleotide variantNM_015450.3(POT1):c.1164-5T>CTumor predisposition syndrome 3 [RCV005132286]uncertain significance7124841183124841183Human2name
597947550CV3800726single nucleotide variantNM_015450.3(POT1):c.1792+4G>ATumor predisposition syndrome 3 [RCV005135126]likely benign7124825248124825248Human2name
597905469CV3803921single nucleotide variantNM_015450.3(POT1):c.1163+9T>CTumor predisposition syndrome 3 [RCV005153466]likely benign7124842798124842798Human2name
597878433CV3813685single nucleotide variantNM_015450.3(POT1):c.949+19A>GTumor predisposition syndrome 3 [RCV005149427]likely benign7124851853124851853Human2name
597853290CV3825159single nucleotide variantNM_015450.3(POT1):c.125-17A>GTumor predisposition syndrome 3 [RCV005174007]likely benign7124871058124871058Human2name
597911346CV3826119single nucleotide variantNM_015450.3(POT1):c.1006+1G>TTumor predisposition syndrome 3 [RCV005182855]likely pathogenic7124846941124846941Human2name
597910276CV3830169single nucleotide variantNM_015450.3(POT1):c.1369+9T>ATumor predisposition syndrome 3 [RCV005182739]likely benign7124840964124840964Human2name
597916582CV3845812single nucleotide variantNM_015450.3(POT1):c.256-14C>ATumor predisposition syndrome 3 [RCV005183607]likely benign7124863654124863654Human2name
597916937CV3851676single nucleotide variantNM_015450.3(POT1):c.1793-2A>GTumor predisposition syndrome 3 [RCV005204437]uncertain significance7124824076124824076Human2name
597937238CV3862666single nucleotide variantNM_015450.3(POT1):c.256-12C>GTumor predisposition syndrome 3 [RCV005207938]likely benign7124863652124863652Human2name
598125472CV3881617single nucleotide variantNM_015450.3(POT1):c.950-18G>Anot specified [RCV005232523]likely benign7124847016124847016Humanname
598125473CV3881618single nucleotide variantNM_015450.3(POT1):c.869+47C>Tnot specified [RCV005232524]likely benign7124852925124852925Humanname
598125474CV3881619single nucleotide variantNM_015450.3(POT1):c.256-36T>Cnot specified [RCV005232525]likely benign7124863676124863676Humanname
598245579CV3896448single nucleotide variantNM_015450.3(POT1):c.870-15T>GTumor predisposition syndrome 3 [RCV005365820]uncertain significance7124851966124851966Human2name
13213811CV428668single nucleotide variantNM_015450.3(POT1):c.1164-7A>CTumor predisposition syndrome 3 [RCV002060139]|not specified [RCV000500357]likely benign|uncertain significance7124841185124841185Human2name , alternate_id
13480886CV456120single nucleotide variantNM_015450.3(POT1):c.1687-9A>GTumor predisposition syndrome 3 [RCV001469711]likely benign7124825366124825366Human2name , alternate_id
13466364CV456405single nucleotide variantNM_015450.3(POT1):c.1164-1G>AHereditary cancer-predisposing syndrome [RCV001010069]|Long telomere syndrome [RCV003329304]|Tumor predisposition syndrome 3 [RCV000543378]|not provided [RCV001821623]pathogenic|likely pathogenic|uncertain significance7124841179124841179Human3name , alternate_id
13468201CV456696single nucleotide variantNM_015450.3(POT1):c.1687-5T>AHereditary cancer-predisposing syndrome [RCV000562242]|POT1-related disorder [RCV003935530]|Tumor predisposition syndrome 3 [RCV000554846]|not provided [RCV001704683]|not specified [RCV001821628]benign|likely benign7124825362124825362Human3name , alternate_id
13499658CV457041single nucleotide variantNM_015450.3(POT1):c.1686+4A>GHereditary cancer-predisposing syndrome [RCV002404556]|Tumor predisposition syndrome 3 [RCV000539955]|not provided [RCV003153728]uncertain significance7124827210124827210Human3name , alternate_id
13495145CV457043single nucleotide variantNM_015450.3(POT1):c.1595-5A>GTumor predisposition syndrome 3 [RCV000536921]likely benign7124827310124827310Human2name , alternate_id
13490233CV457141single nucleotide variantNM_015450.3(POT1):c.256-10A>TTumor predisposition syndrome 3 [RCV001502701]likely benign7124863650124863650Human2name , alternate_id
13624380CV522364single nucleotide variantNM_015450.3(POT1):c.1687-5T>GTumor predisposition syndrome 3 [RCV000652202]likely benign|uncertain significance7124825362124825362Human2name , alternate_id
13624446CV522466single nucleotide variantNM_015450.3(POT1):c.1007-8C>TPOT1-related disorder [RCV003918071]|Tumor predisposition syndrome 3 [RCV000652237]|not provided [RCV001731845]likely benign|conflicting interpretations of pathogenicity7124842971124842971Human2name , alternate_id
13624484CV522851single nucleotide variantNM_015450.3(POT1):c.1006+9A>GTumor predisposition syndrome 3 [RCV000652251]|not specified [RCV005231240]likely benign7124846933124846933Human2name , alternate_id
13821640CV561255single nucleotide variantNM_015450.3(POT1):c.1163+1G>AHereditary cancer-predisposing syndrome [RCV002325396]|Tumor predisposition syndrome 3 [RCV000696191]|not provided [RCV003478425]likely pathogenic|uncertain significance7124842806124842806Human3name , alternate_id
13809420CV561329single nucleotide variantNM_015450.3(POT1):c.1792+1G>THereditary cancer-predisposing syndrome [RCV004944089]|Tumor predisposition syndrome 3 [RCV000687760]likely pathogenic|uncertain significance7124825251124825251Human3name , alternate_id
13817571CV563988single nucleotide variantNM_015450.3(POT1):c.1505+3A>GHereditary cancer-predisposing syndrome [RCV001011940]|Tumor predisposition syndrome 3 [RCV000693110]|Tumor predisposition syndrome 3 [RCV005034303]|not provided [RCV002510958]uncertain significance7124835276124835276Human5name , alternate_id
14708979CV651651single nucleotide variantNM_015450.3(POT1):c.1594+6C>TTumor predisposition syndrome 3 [RCV000810798]likely benign|uncertain significance7124829248124829248Human2name , alternate_id
14711691CV651653single nucleotide variantNM_015450.3(POT1):c.1369+6A>CTumor predisposition syndrome 3 [RCV000818540]likely benign|uncertain significance7124840967124840967Human2name , alternate_id
14712241CV651655single nucleotide variantNM_015450.3(POT1):c.1163+5G>AHereditary cancer-predisposing syndrome [RCV005260441]|Tumor predisposition syndrome 3 [RCV000820057]uncertain significance7124842802124842802Human3name , alternate_id
14704827CV651704single nucleotide variantNM_015450.3(POT1):c.1007-1G>AHereditary cancer-predisposing syndrome [RCV001016970]|Tumor predisposition syndrome 3 [RCV000798793]likely pathogenic|uncertain significance7124842964124842964Human3name , alternate_id
14737672CV662604single nucleotide variantNM_015450.3(POT1):c.256-64G>Anot provided [RCV000839023]likely benign7124863704124863704Humanname
14732233CV662629single nucleotide variantNM_015450.3(POT1):c.870-33A>Gnot provided [RCV000836487]benign7124851984124851984Humanname
14709714CV662637deletionNM_015450.3(POT1):c.-153-9delHereditary cancer-predisposing syndrome [RCV002255545]|not provided [RCV000838485]benign7124898383124898383Human1name
15147534CV695343single nucleotide variantNM_015450.3(POT1):c.949+10A>GTumor predisposition syndrome 3 [RCV000878773]likely benign7124851862124851862Human2name
15132310CV759513single nucleotide variantNM_015450.3(POT1):c.1686+7A>GTumor predisposition syndrome 3 [RCV001432361]likely benign7124827207124827207Human2name
15199776CV759542single nucleotide variantNM_015450.3(POT1):c.1505+8G>ATumor predisposition syndrome 3 [RCV000912649]|not provided [RCV003432905]|not specified [RCV002268351]likely benign7124835271124835271Human2name
15106670CV775124single nucleotide variantNM_015450.3(POT1):c.1370-8C>TTumor predisposition syndrome 3 [RCV001505435]likely benign7124835422124835422Human2name
15186758CV775283single nucleotide variantNM_015450.3(POT1):c.1007-4A>GTumor predisposition syndrome 3 [RCV001491459]likely benign7124842967124842967Human2name
15144606CV775324single nucleotide variantNM_015450.3(POT1):c.1594+7T>GTumor predisposition syndrome 3 [RCV001501887]likely benign7124829247124829247Human2name
15158393CV777620single nucleotide variantNM_015450.3(POT1):c.950-10C>TTumor predisposition syndrome 3 [RCV005092907]likely benign7124847008124847008Human2name
25324173CV815367single nucleotide variantNM_015450.3(POT1):c.1370-3C>GHereditary cancer-predisposing syndrome [RCV001011184]|Tumor predisposition syndrome 3 [RCV002550761]uncertain significance7124835417124835417Human3name
25322625CV815368single nucleotide variantNM_015450.3(POT1):c.1164-4T>GHereditary cancer-predisposing syndrome [RCV001010070]|Tumor predisposition syndrome 3 [RCV001373821]likely benign|uncertain significance7124841182124841182Human3name
25321716CV815370single nucleotide variantNM_015450.3(POT1):c.1007-5T>CHereditary cancer-predisposing syndrome [RCV001009672]|Tumor predisposition syndrome 3 [RCV001206686]likely benign|uncertain significance7124842968124842968Human3name
26913017CV851618single nucleotide variantNM_015450.3(POT1):c.1686+6T>GTumor predisposition syndrome 3 [RCV001039766]uncertain significance7124827208124827208Human2name
26922348CV851620single nucleotide variantNM_015450.3(POT1):c.1686+3A>CTumor predisposition syndrome 3 [RCV001061907]uncertain significance7124827211124827211Human2name
26923582CV851624single nucleotide variantNM_015450.3(POT1):c.1007-8C>ATumor predisposition syndrome 3 [RCV001064260]likely benign|uncertain significance7124842971124842971Human2name
26888368CV852052single nucleotide variantNM_015450.3(POT1):c.1594+1G>ATumor predisposition syndrome 3 [RCV001045255]likely pathogenic|uncertain significance7124829253124829253Human2name
26919531CV852323single nucleotide variantNM_015450.3(POT1):c.1369+6A>GTumor predisposition syndrome 3 [RCV001059064]|not provided [RCV003478684]uncertain significance7124840967124840967Human2name
38489214CV940058single nucleotide variantNM_015450.3(POT1):c.1164-3T>CHereditary cancer-predisposing syndrome [RCV002322026]|Tumor predisposition syndrome 3 [RCV001210107]likely benign|uncertain significance7124841181124841181Human3name
38471382CV940059single nucleotide variantNM_015450.3(POT1):c.1006+2T>CHereditary cancer-predisposing syndrome [RCV003294029]|Tumor predisposition syndrome 3 [RCV001213762]|not provided [RCV004720795]likely pathogenic|uncertain significance7124846940124846940Human3name
38485046CV940868single nucleotide variantNM_015450.3(POT1):c.1687-6T>GTumor predisposition syndrome 3 [RCV001219699]likely benign|uncertain significance7124825363124825363Human2name
38474784CV959829single nucleotide variantNM_015450.3(POT1):c.1792+1G>AHereditary cancer-predisposing syndrome [RCV002402726]|Tumor predisposition syndrome 3 [RCV001232089]|not provided [RCV004727017]likely pathogenic|uncertain significance7124825251124825251Human3name
38480505CV959830single nucleotide variantNM_015450.3(POT1):c.1006+4A>GTumor predisposition syndrome 3 [RCV001234737]uncertain significance7124846938124846938Human2name
38492857CV960623single nucleotide variantNM_015450.3(POT1):c.547-10C>GTumor predisposition syndrome 3 [RCV001240330]uncertain significance7124859122124859122Human2name
126756812CV991992single nucleotide variantNM_015450.3(POT1):c.1594+4A>GTumor predisposition syndrome 3 [RCV001298694]uncertain significance7124829250124829250Human2name , alternate_id
127254714CV1095960single nucleotide variantNM_015450.3(POT1):c.1595-10C>TTumor predisposition syndrome 3 [RCV001426360]likely benign7124827315124827315Human2name , alternate_id
127278439CV1095961single nucleotide variantNM_015450.3(POT1):c.1595-10C>GTumor predisposition syndrome 3 [RCV001445074]likely benign7124827315124827315Human2name , alternate_id
150425322CV1183924single nucleotide variantNM_015450.3(POT1):c.703-262A>Gnot provided [RCV001557851]likely benign7124853400124853400Humanname
150423747CV1183925single nucleotide variantNM_015450.3(POT1):c.-39-168T>Cnot provided [RCV001555741]likely benign7124897380124897380Humanname
150426550CV1187185single nucleotide variantNM_015450.3(POT1):c.125-277G>Anot provided [RCV001559719]likely benign7124871318124871318Humanname
150404846CV1193880single nucleotide variantNM_015450.3(POT1):c.1793-25G>Anot provided [RCV001571363]|not specified [RCV002268517]benign|likely benign7124824099124824099Humanname
150420329CV1193881single nucleotide variantNM_015450.3(POT1):c.124+175T>Cnot provided [RCV001570071]likely benign7124892091124892091Humanname
150421780CV1193882single nucleotide variantNM_015450.3(POT1):c.-227+36C>Gnot provided [RCV001570687]likely benign7124928779124928779Humanname
150412601CV1197628single nucleotide variantNM_015450.3(POT1):c.1792+50A>Gnot provided [RCV001574391]|not specified [RCV002268521]benign|likely benign7124825202124825202Humanname
150444879CV1215398single nucleotide variantNM_015450.3(POT1):c.869+263T>Cnot provided [RCV001610991]benign7124852709124852709Humanname
150516882CV1227321deletionNM_015450.3(POT1):c.-39-182delnot provided [RCV001639421]benign7124897394124897394Humanname
150441870CV1233611single nucleotide variantNM_015450.3(POT1):c.547-236G>Cnot provided [RCV001645299]benign7124859348124859348Humanname
150483597CV1245137single nucleotide variantNM_015450.3(POT1):c.546+215T>Cnot provided [RCV001653314]benign7124863135124863135Humanname
150462701CV1263698single nucleotide variantNM_015450.3(POT1):c.256-299A>Gnot provided [RCV001682399]benign7124863939124863939Humanname
150442774CV1264490single nucleotide variantNM_015450.3(POT1):c.950-257T>Cnot provided [RCV001679473]benign7124847255124847255Humanname
150454766CV1266067single nucleotide variantNM_015450.3(POT1):c.702+304G>Cnot provided [RCV001692644]benign7124858653124858653Humanname
150458442CV1269636single nucleotide variantNM_015450.3(POT1):c.546+292A>Gnot provided [RCV001693176]benign7124863058124863058Humanname
150450648CV1272409single nucleotide variantNM_015450.3(POT1):c.547-314T>Gnot provided [RCV001691890]benign7124859426124859426Humanname
150445873CV1278225single nucleotide variantNM_015450.3(POT1):c.950-258C>Tnot provided [RCV001707368]benign7124847256124847256Human1name
150445873CV1278225single nucleotide variantNM_015450.3(POT1):c.950-258C>Tnot provided [RCV001707368]benign7124847256124847257Human1name
150481057CV1279650single nucleotide variantNM_015450.3(POT1):c.256-126T>Anot provided [RCV001714770]benign7124863766124863766Humanname
151821537CV1354954single nucleotide variantNM_015450.3(POT1):c.1007-16T>GTumor predisposition syndrome 3 [RCV001934191]uncertain significance7124842979124842979Human2name
151804350CV1424799single nucleotide variantNM_015450.3(POT1):c.1163+17A>GTumor predisposition syndrome 3 [RCV001867415]likely benign|uncertain significance7124842790124842790Human2name
152142063CV1526611single nucleotide variantNM_015450.3(POT1):c.1164-17A>GTumor predisposition syndrome 3 [RCV002084289]likely benign7124841195124841195Human2name
152117785CV1538945deletionNM_015450.3(POT1):c.1793-17delTumor predisposition syndrome 3 [RCV002175165]benign7124824091124824091Human2name
152158102CV1541921single nucleotide variantNM_015450.3(POT1):c.1687-19C>GTumor predisposition syndrome 3 [RCV002103262]likely benign7124825376124825376Human2name
152146159CV1543378single nucleotide variantNM_015450.3(POT1):c.1793-12T>CTumor predisposition syndrome 3 [RCV002178752]likely benign7124824086124824086Human2name
152120079CV1547327single nucleotide variantNM_015450.3(POT1):c.1792+18A>GTumor predisposition syndrome 3 [RCV002081432]likely benign7124825234124825234Human2name
152114063CV1559258single nucleotide variantNM_015450.3(POT1):c.1370-13A>GTumor predisposition syndrome 3 [RCV002174695]likely benign7124835427124835427Human2name
152077646CV1560893deletionNM_015450.3(POT1):c.1595-11delTumor predisposition syndrome 3 [RCV002112324]benign7124827316124827316Human2name
152093894CV1561310deletionNM_015450.3(POT1):c.1506-12delTumor predisposition syndrome 3 [RCV002094570]benign7124829354124829354Human2name
152054949CV1564453deletionNM_015450.3(POT1):c.1007-11delTumor predisposition syndrome 3 [RCV002146115]benign7124842974124842974Human2name
152148895CV1569160single nucleotide variantNM_015450.3(POT1):c.1505+18G>TTumor predisposition syndrome 3 [RCV002220483]likely benign7124835261124835261Human2name
152030440CV1571050single nucleotide variantNM_015450.3(POT1):c.1006+11G>ATumor predisposition syndrome 3 [RCV002105917]likely benign7124846931124846931Human2name
152113150CV1585918single nucleotide variantNM_015450.3(POT1):c.1006+13A>GTumor predisposition syndrome 3 [RCV002153321]likely benign7124846929124846929Human2name
152051997CV1607164single nucleotide variantNM_015450.3(POT1):c.1686+13G>ATumor predisposition syndrome 3 [RCV002109087]likely benign7124827201124827201Human2name
152161412CV1619403single nucleotide variantNM_015450.3(POT1):c.1505+12T>CTumor predisposition syndrome 3 [RCV002159706]likely benign7124835267124835267Human2name
152171510CV1628368single nucleotide variantNM_015450.3(POT1):c.1595-18C>GTumor predisposition syndrome 3 [RCV002183523]likely benign7124827323124827323Human2name
152131278CV1631103single nucleotide variantNM_015450.3(POT1):c.1007-17A>GTumor predisposition syndrome 3 [RCV002119120]likely benign7124842980124842980Human2name
152034137CV1634776single nucleotide variantNM_015450.3(POT1):c.1595-17T>GTumor predisposition syndrome 3 [RCV002086919]|not specified [RCV002465915]likely benign7124827322124827322Human2name
152175079CV1637512single nucleotide variantNM_015450.3(POT1):c.1687-15T>CTumor predisposition syndrome 3 [RCV002144660]likely benign7124825372124825372Human2name
152173257CV1637703single nucleotide variantNM_015450.3(POT1):c.1164-19T>GTumor predisposition syndrome 3 [RCV002162742]likely benign7124841197124841197Human2name
152082286CV1641506single nucleotide variantNM_015450.3(POT1):c.1007-11A>TTumor predisposition syndrome 3 [RCV002211576]likely benign7124842974124842974Human2name
152126969CV1642000single nucleotide variantNM_015450.3(POT1):c.1505+14T>CTumor predisposition syndrome 3 [RCV002176298]likely benign7124835265124835265Human2name
153001498CV1684316single nucleotide variantNM_015450.3(POT1):c.1506-10T>CHereditary cancer-predisposing syndrome [RCV002256961]uncertain significance7124829352124829352Human1name
153001500CV1684319single nucleotide variantNM_015450.3(POT1):c.1686+32A>GHereditary cancer-predisposing syndrome [RCV002256963]|Tumor predisposition syndrome 3 [RCV003094191]|not specified [RCV002268633]benign|likely benign|uncertain significance7124827182124827182Human3name
153001501CV1684320duplicationNM_015450.3(POT1):c.-226-11dupHereditary cancer-predisposing syndrome [RCV002256964]likely benign7124915656124915657Human1name
153001984CV1684321single nucleotide variantNM_015450.3(POT1):c.-412+10A>GHereditary cancer-predisposing syndrome [RCV002258401]uncertain significance7124929784124929784Human1name
153302507CV1689747single nucleotide variantNM_015450.3(POT1):c.1792+40T>Gnot specified [RCV002268645]uncertain significance7124825212124825212Humanname
153302516CV1689754single nucleotide variantNM_015450.3(POT1):c.1506-43A>Gnot specified [RCV002268652]likely benign7124829385124829385Humanname
153302519CV1689756duplicationNM_015450.3(POT1):c.1505+36dupnot specified [RCV002268654]likely benign7124835242124835243Humanname
155799392CV1859788single nucleotide variantNM_015450.3(POT1):c.1164-25A>Gnot specified [RCV002466032]likely benign7124841203124841203Humanname
155799393CV1859789single nucleotide variantNM_015450.3(POT1):c.1164-29T>Anot specified [RCV002466033]likely benign7124841207124841207Humanname
156408674CV1870227single nucleotide variantNM_015450.3(POT1):c.1506-19T>CTumor predisposition syndrome 3 [RCV003071365]likely benign7124829361124829361Human2name
156411339CV1893116single nucleotide variantNM_015450.3(POT1):c.1793-16G>TTumor predisposition syndrome 3 [RCV003072436]likely benign7124824090124824090Human2name
156378865CV1927344single nucleotide variantNM_015450.3(POT1):c.1370-17A>GTumor predisposition syndrome 3 [RCV002634099]likely benign7124835431124835431Human2name
156216916CV1995474single nucleotide variantNM_015450.3(POT1):c.1506-18T>CTumor predisposition syndrome 3 [RCV002667069]likely benign7124829360124829360Human2name
156323006CV2022298single nucleotide variantNM_015450.3(POT1):c.1506-11A>GTumor predisposition syndrome 3 [RCV002717219]likely benign7124829353124829353Human2name
156266831CV2030507single nucleotide variantNM_015450.3(POT1):c.1595-17T>CTumor predisposition syndrome 3 [RCV002746501]likely benign7124827322124827322Human2name
155989225CV2053112single nucleotide variantNM_015450.3(POT1):c.1792+11A>CTumor predisposition syndrome 3 [RCV002819126]likely benign7124825241124825241Human2name
155956320CV2087002single nucleotide variantNM_015450.3(POT1):c.950-915C>TTumor predisposition syndrome 3 [RCV002862623]uncertain significance7124847913124847913Human2name
156107502CV2089297single nucleotide variantNM_015450.3(POT1):c.1163+14A>TTumor predisposition syndrome 3 [RCV002848315]likely benign7124842793124842793Human2name
156337469CV2095971duplicationNM_015450.3(POT1):c.1793-17dupTumor predisposition syndrome 3 [RCV002900286]likely benign7124824090124824091Human2name
156319074CV2155260single nucleotide variantNM_015450.3(POT1):c.1594+20C>TTumor predisposition syndrome 3 [RCV003011572]likely benign7124829234124829234Human2name
156319362CV2155291single nucleotide variantNM_015450.3(POT1):c.1163+14A>GTumor predisposition syndrome 3 [RCV003011588]likely benign7124842793124842793Human2name
156236086CV2173372single nucleotide variantNM_015450.3(POT1):c.1505+16T>GTumor predisposition syndrome 3 [RCV003059489]likely benign7124835263124835263Human2name
156367349CV2177766single nucleotide variantNM_015450.3(POT1):c.1163+11T>CTumor predisposition syndrome 3 [RCV003049438]likely benign7124842796124842796Human2name
156142208CV2177971single nucleotide variantNM_015450.3(POT1):c.1792+17T>ATumor predisposition syndrome 3 [RCV003040077]likely benign7124825235124825235Human2name
401798092CV2741273single nucleotide variantNM_015450.3(POT1):c.1163+29T>Gnot specified [RCV003322436]likely benign7124842778124842778Humanname
401798118CV2741278single nucleotide variantNM_015450.3(POT1):c.1006+33A>Gnot specified [RCV003322441]likely benign7124846909124846909Humanname
401798305CV2741400single nucleotide variantNM_015450.3(POT1):c.1792+30C>Tnot specified [RCV003322563]likely benign7124825222124825222Humanname
401798308CV2741405single nucleotide variantNM_015450.3(POT1):c.1506-35T>Anot specified [RCV003322568]likely benign7124829377124829377Humanname
401798314CV2741411single nucleotide variantNM_015450.3(POT1):c.1370-30A>Tnot specified [RCV003322574]likely benign7124835444124835444Humanname
405008853CV2853132single nucleotide variantNM_015450.3(POT1):c.1792+44G>Tnot specified [RCV003494326]uncertain significance7124825208124825208Humanname
405150514CV2884798single nucleotide variantNM_015450.3(POT1):c.1370-10C>TTumor predisposition syndrome 3 [RCV003585611]likely benign7124835424124835424Human2name
405150423CV2891062single nucleotide variantNM_015450.3(POT1):c.1164-16T>CTumor predisposition syndrome 3 [RCV003585603]likely benign7124841194124841194Human2name
405140924CV2898063single nucleotide variantNM_015450.3(POT1):c.1686+11G>ATumor predisposition syndrome 3 [RCV003584106]likely benign7124827203124827203Human2name
405141110CV2899119single nucleotide variantNM_015450.3(POT1):c.1594+15C>TTumor predisposition syndrome 3 [RCV003584126]likely benign7124829239124829239Human2name
405141299CV2902903single nucleotide variantNM_015450.3(POT1):c.1164-14G>ATumor predisposition syndrome 3 [RCV003584147]likely benign7124841192124841192Human2name
405141882CV2912308single nucleotide variantNM_015450.3(POT1):c.1163+14A>CTumor predisposition syndrome 3 [RCV003584206]likely benign7124842793124842793Human2name
405142633CV2921505single nucleotide variantNM_015450.3(POT1):c.1505+16T>CTumor predisposition syndrome 3 [RCV003584309]likely benign7124835263124835263Human2name
405143621CV2924399single nucleotide variantNM_015450.3(POT1):c.1506-20C>GTumor predisposition syndrome 3 [RCV003584403]likely benign7124829362124829362Human2name
405143451CV2930073single nucleotide variantNM_015450.3(POT1):c.1687-18T>GTumor predisposition syndrome 3 [RCV003584388]likely benign7124825375124825375Human2name
405248181CV2943225single nucleotide variantNM_015450.3(POT1):c.1686+11G>CTumor predisposition syndrome 3 [RCV003746699]likely benign7124827203124827203Human2name
405248810CV2967618single nucleotide variantNM_015450.3(POT1):c.1687-19C>TTumor predisposition syndrome 3 [RCV003746918]likely benign7124825376124825376Human2name
405249075CV2975367single nucleotide variantNM_015450.3(POT1):c.1007-19A>GTumor predisposition syndrome 3 [RCV003746980]likely benign7124842982124842982Human2name
405249087CV2975598single nucleotide variantNM_015450.3(POT1):c.1007-20A>TTumor predisposition syndrome 3 [RCV003746984]likely benign7124842983124842983Human2name
405249920CV2982792single nucleotide variantNM_015450.3(POT1):c.1164-13C>ATumor predisposition syndrome 3 [RCV003747164]likely benign7124841191124841191Human2name
405249779CV2984423single nucleotide variantNM_015450.3(POT1):c.1687-11A>TTumor predisposition syndrome 3 [RCV003747073]likely benign7124825368124825368Human2name
405249604CV2990233single nucleotide variantNM_015450.3(POT1):c.1595-14T>CTumor predisposition syndrome 3 [RCV003747197]likely benign7124827319124827319Human2name
405249787CV2995504single nucleotide variantNM_015450.3(POT1):c.1163+13C>TTumor predisposition syndrome 3 [RCV003747273]likely benign7124842794124842794Human2name
405249900CV3000340single nucleotide variantNM_015450.3(POT1):c.1505+15T>GTumor predisposition syndrome 3 [RCV003747322]likely benign7124835264124835264Human2name
405247134CV3006885single nucleotide variantNM_015450.3(POT1):c.1369+14G>ATumor predisposition syndrome 3 [RCV003746047]likely benign7124840959124840959Human2name
405246871CV3018546single nucleotide variantNM_015450.3(POT1):c.1595-12T>ATumor predisposition syndrome 3 [RCV003746148]likely benign7124827317124827317Human2name
405246849CV3025149single nucleotide variantNM_015450.3(POT1):c.1793-17T>CTumor predisposition syndrome 3 [RCV003746141]likely benign7124824091124824091Human2name
405250622CV3076535duplicationNM_015450.3(POT1):c.1793-11dupTumor predisposition syndrome 3 [RCV003747606]benign7124824084124824085Human2name
407480157CV3415228single nucleotide variantNM_015450.3(POT1):c.1792+40T>Cnot specified [RCV004595943]likely benign7124825212124825212Humanname
407480167CV3415229single nucleotide variantNM_015450.3(POT1):c.1792+19A>Gnot specified [RCV004595944]likely benign7124825233124825233Humanname
407480174CV3415230deletionNM_015450.3(POT1):c.1687-22delnot specified [RCV004595945]likely benign7124825379124825379Humanname
407480184CV3415231deletionNM_015450.3(POT1):c.1687-33delnot specified [RCV004595946]likely benign7124825390124825390Humanname
407480192CV3415233single nucleotide variantNM_015450.3(POT1):c.1595-33C>Anot specified [RCV004595948]likely benign7124827338124827338Humanname
407481984CV3415234single nucleotide variantNM_015450.3(POT1):c.1594+28T>Gnot specified [RCV004595949]likely benign7124829226124829226Humanname
407481967CV3415235single nucleotide variantNM_015450.3(POT1):c.1369+28A>Gnot specified [RCV004595950]likely benign7124840945124840945Humanname
597940594CV3760617single nucleotide variantNM_015450.3(POT1):c.1793-17T>GTumor predisposition syndrome 3 [RCV005077344]likely benign7124824091124824091Human2name
597869515CV3764631deletionNM_015450.3(POT1):c.1594+10delTumor predisposition syndrome 3 [RCV005107430]likely benign7124829244124829244Human2name
597859817CV3770002deletionNM_015450.3(POT1):c.1793-11delTumor predisposition syndrome 3 [RCV005105854]benign7124824085124824085Human2name
597943935CV3782716single nucleotide variantNM_015450.3(POT1):c.1369+16C>TTumor predisposition syndrome 3 [RCV005134256]likely benign7124840957124840957Human2name
597900539CV3783030single nucleotide variantNM_015450.3(POT1):c.1687-16A>CTumor predisposition syndrome 3 [RCV005127050]likely benign7124825373124825373Human2name
597928381CV3783426single nucleotide variantNM_015450.3(POT1):c.1163+13C>GTumor predisposition syndrome 3 [RCV005116113]likely benign7124842794124842794Human2name
597917689CV3789611single nucleotide variantNM_015450.3(POT1):c.1370-13A>TTumor predisposition syndrome 3 [RCV005129706]likely benign7124835427124835427Human2name
597932928CV3789883single nucleotide variantNM_015450.3(POT1):c.1163+11T>GTumor predisposition syndrome 3 [RCV005131962]likely benign7124842796124842796Human2name
597960728CV3794735single nucleotide variantNM_015450.3(POT1):c.1595-16T>GTumor predisposition syndrome 3 [RCV005138640]likely benign7124827321124827321Human2name
597840120CV3825259single nucleotide variantNM_015450.3(POT1):c.1687-16A>GTumor predisposition syndrome 3 [RCV005171942]likely benign7124825373124825373Human2name
597911338CV3826118single nucleotide variantNM_015450.3(POT1):c.1369+10T>GTumor predisposition syndrome 3 [RCV005182854]likely benign7124840963124840963Human2name
597838713CV3828905single nucleotide variantNM_015450.3(POT1):c.1007-16T>CTumor predisposition syndrome 3 [RCV005171598]likely benign7124842979124842979Human2name
597974619CV3831747deletionNM_015450.3(POT1):c.1370-14delTumor predisposition syndrome 3 [RCV005168686]likely benign7124835428124835428Human2name
597953625CV3844036single nucleotide variantNM_015450.3(POT1):c.1006+10T>CTumor predisposition syndrome 3 [RCV005190898]likely benign7124846932124846932Human2name
597868719CV3858359single nucleotide variantNM_015450.3(POT1):c.1164-10A>TTumor predisposition syndrome 3 [RCV005197102]likely benign7124841188124841188Human2name
597933395CV3858614single nucleotide variantNM_015450.3(POT1):c.1686+19A>GTumor predisposition syndrome 3 [RCV005207083]likely benign7124827195124827195Human2name
598125470CV3881615single nucleotide variantNM_015450.3(POT1):c.1687-27T>Gnot specified [RCV005232521]likely benign7124825384124825384Humanname
598125471CV3881616single nucleotide variantNM_015450.3(POT1):c.1687-43T>Gnot specified [RCV005232522]likely benign7124825400124825400Humanname
13489958CV456719single nucleotide variantNM_015450.3(POT1):c.1164-10A>GTumor predisposition syndrome 3 [RCV000533188]uncertain significance7124841188124841188Human2name , alternate_id
13485942CV457050single nucleotide variantNM_015450.3(POT1):c.1369+10T>CTumor predisposition syndrome 3 [RCV000530992]likely benign7124840963124840963Human2name , alternate_id
13484031CV457067single nucleotide variantNM_015450.3(POT1):c.1369+10T>ATumor predisposition syndrome 3 [RCV000552572]|not specified [RCV001821624]likely benign|conflicting interpretations of pathogenicity|uncertain significance7124840963124840963Human2name , alternate_id
13540732CV501543duplicationNM_015450.3(POT1):c.1595-11dupTumor predisposition syndrome 3 [RCV002066644]|not specified [RCV000615124]benign|likely benign7124827315124827316Human2name , alternate_id
13532188CV501547single nucleotide variantNM_015450.3(POT1):c.1006+16A>GTumor predisposition syndrome 3 [RCV002066727]|not provided [RCV004712910]|not specified [RCV000606720]benign7124846926124846926Human2name , alternate_id
13540556CV501786single nucleotide variantNM_015450.3(POT1):c.1164-13C>TTumor predisposition syndrome 3 [RCV002064375]|not provided [RCV004712911]|not specified [RCV000614864]benign7124841191124841191Human2name , alternate_id
13811893CV566387deletionNM_015450.3(POT1):c.9+4_9+6delHereditary cancer-predisposing syndrome [RCV001018629]|Tumor predisposition syndrome 3 [RCV000689065]|not provided [RCV002509513]uncertain significance7124897159124897161Human3name , alternate_id
14732245CV662155single nucleotide variantNM_015450.3(POT1):c.1594+41T>Anot provided [RCV000836492]benign7124829213124829213Humanname
14735423CV662161duplicationNM_015450.3(POT1):c.949+171dupnot provided [RCV000838000]likely benign7124851700124851701Humanname
14735421CV662168single nucleotide variantNM_015450.3(POT1):c.703-233G>Anot provided [RCV000837999]likely benign7124853371124853371Humanname
14732262CV662553single nucleotide variantNM_015450.3(POT1):c.547-222C>Anot provided [RCV000836505]benign7124859334124859334Humanname
14735419CV662557single nucleotide variantNM_015450.3(POT1):c.255+218A>Gnot provided [RCV000837998]likely benign7124870693124870693Humanname
14732247CV662562single nucleotide variantNM_015450.3(POT1):c.-39-210T>Gnot provided [RCV000836493]benign7124897422124897422Humanname
14736460CV662610single nucleotide variantNM_015450.3(POT1):c.-40+162G>Tnot provided [RCV000838480]benign7124898099124898099Humanname
14732253CV662622single nucleotide variantNM_015450.3(POT1):c.1687-98T>Gnot provided [RCV000836501]benign7124825455124825455Humanname
14732232CV662634single nucleotide variantNM_015450.3(POT1):c.546+208G>Anot provided [RCV000836486]benign7124863142124863142Humanname
14709717CV662636duplicationNM_015450.3(POT1):c.-40+149dupnot provided [RCV000838490]likely benign7124898103124898104Humanname
150422962CV1180274single nucleotide variantNM_015450.3(POT1):c.1793-303A>Gnot provided [RCV001553362]likely benign7124824377124824377Humanname
150407869CV1190605single nucleotide variantNM_015450.3(POT1):c.1595-167A>Gnot provided [RCV001565137]likely benign7124827472124827472Humanname
150430797CV1204011single nucleotide variantNM_015450.3(POT1):c.-412+193T>Cnot provided [RCV001580786]likely benign7124929601124929601Humanname
150507982CV1213910single nucleotide variantNM_015450.3(POT1):c.1007-319G>Anot provided [RCV001596431]likely benign7124843282124843282Humanname
150462063CV1214591single nucleotide variantNM_015450.3(POT1):c.-226-155A>Gnot provided [RCV001613584]benign7124915801124915801Humanname
150481067CV1258847single nucleotide variantNM_015450.3(POT1):c.1595-254A>Gnot provided [RCV001685977]benign7124827559124827559Humanname
150448947CV1270531single nucleotide variantNM_015450.3(POT1):c.1007-255T>Anot provided [RCV001691669]benign7124843218124843218Humanname
150480322CV1282619single nucleotide variantNM_015450.3(POT1):c.1164-216G>Cnot provided [RCV001714625]benign7124841394124841394Humanname
150500352CV1283491single nucleotide variantNM_015450.3(POT1):c.-153-162T>Cnot provided [RCV001718375]benign7124898536124898536Humanname
150443102CV1287834single nucleotide variantNM_015450.3(POT1):c.1686+215A>Gnot provided [RCV001725555]benign7124826999124826999Humanname
405141511CV2906879single nucleotide variantNM_015450.3(POT1):c.703-1218C>TTumor predisposition syndrome 3 [RCV003584168]uncertain significance7124854356124854356Human2name
14732268CV662153single nucleotide variantNM_015450.3(POT1):c.1595-111A>Gnot provided [RCV000836507]benign7124827416124827416Humanname
14735427CV662549single nucleotide variantNM_015450.3(POT1):c.1370-150A>Gnot provided [RCV000838001]likely benign7124835564124835564Humanname
14732240CV662550single nucleotide variantNM_015450.3(POT1):c.1369+158A>Gnot provided [RCV000836490]benign7124840815124840815Humanname
14736459CV662570single nucleotide variantNM_015450.3(POT1):c.-153-187G>Anot provided [RCV000838479]benign7124898561124898561Humanname
14732255CV662585single nucleotide variantNM_015450.3(POT1):c.1792+209T>Anot provided [RCV000836502]benign7124825043124825043Humanname
14732242CV662596single nucleotide variantNM_015450.3(POT1):c.1506-191C>Tnot provided [RCV000836491]benign7124829533124829533Humanname
14732238CV662599single nucleotide variantNM_015450.3(POT1):c.1164-171A>Tnot provided [RCV000836489]benign7124841349124841349Humanname
14732236CV662600single nucleotide variantNM_015450.3(POT1):c.1164-188A>Tnot provided [RCV000836488]benign7124841366124841366Humanname
14736456CV662611single nucleotide variantNM_015450.3(POT1):c.-227+159T>Cnot provided [RCV000838478]benign7124928656124928656Humanname
14732265CV662627single nucleotide variantNM_015450.3(POT1):c.1007-205A>Gnot provided [RCV000836506]benign7124843168124843168Humanname
156016761CV2010374microsatelliteNM_015450.3(POT1):c.10-6_10-3delTumor predisposition syndrome 3 [RCV002735181]likely benign7124892383124892386Humanname
404981456CV2850849single nucleotide variantNM_015450.3(POT1):c.-154+1656C>Tnot provided [RCV003488302]uncertain significance7124913918124913918Humanname
38456865CV955012deletionNM_015450.3(POT1):c.120_124+1delTumor predisposition syndrome 3 [RCV001245917]uncertain significance7124892265124892270Human2name
155687947CV1817503duplicationNM_015450.3(POT1):c.870-57_882dupHereditary cancer-predisposing syndrome [RCV002373430]|Tumor predisposition syndrome 3 [RCV005058551]uncertain significance7124851938124851939Human3name
597701682CV3718827deletionNM_015450.3(POT1):c.991_1006+7delTumor predisposition syndrome 3 [RCV005033577]likely pathogenic7124846935124846957Human4name
150336051CV1171659microsatelliteNM_015450.3(POT1):c.1505+7TGTTT[5]not provided [RCV001540818]|not specified [RCV001692465]benign|likely benign7124835243124835247Humanname
150464735CV1263143microsatelliteNM_015450.3(POT1):c.1505+7TGTTT[7]not provided [RCV001686543]|not specified [RCV001694162]benign7124835242124835243Humanname
152058293CV1543639deletionNM_015450.3(POT1):c.950-6_950-5delHereditary cancer-predisposing syndrome [RCV004046545]|POT1-related disorder [RCV004747058]|Tumor predisposition syndrome 3 [RCV002128042]likely benign7124847003124847004Human3name , alternate_id
155265032CV1695422microsatelliteNM_015450.3(POT1):c.1505+7TGTTT[8]not specified [RCV002279997]likely benign7124835242124835243Humanname
405007497CV2853133microsatelliteNM_015450.3(POT1):c.1505+7TGTTT[4]not specified [RCV003494327]likely benign7124835243124835252Humanname
597940472CV3788991microsatelliteNM_015450.3(POT1):c.125-9_125-8delTumor predisposition syndrome 3 [RCV005133454]likely benign7124871049124871050Humanname
25326962CV808945single nucleotide variantNM_015450.3(POT1):c.7T>C (p.Leu3=)Hereditary cancer-predisposing syndrome [RCV001027046]likely benign7124897167124897167Human1name
25329049CV815369deletionNM_015450.3(POT1):c.1007-2_1009delHereditary cancer-predisposing syndrome [RCV001016971]|Tumor predisposition syndrome 3 [RCV005093147]likely pathogenic|uncertain significance7124842961124842965Human3name
8590335CV125026single nucleotide variantNR_125718.1(POT1-AS1):n.582-1076A>TLung cancer [RCV000105545]uncertain significance7125019257125019257Humanname
150555014CV1310004microsatelliteNM_015450.3(POT1):c.702+9_702+10delnot provided [RCV003238010]uncertain significance7124858947124858948Humanname
155686585CV1852643single nucleotide variantNM_015450.3(POT1):c.27T>C (p.Tyr9=)Hereditary cancer-predisposing syndrome [RCV002441582]|Tumor predisposition syndrome 3 [RCV003585276]likely benign7124892363124892363Human3name
155970922CV2079213deletionNM_015450.3(POT1):c.2del (p.Met1fs)Tumor predisposition syndrome 3 [RCV002881483]pathogenic7124897172124897172Human2name
329385136CV2423041duplicationNM_015450.3(POT1):c.2dup (p.Met1fs)Hereditary cancer-predisposing syndrome [RCV003177030]likely pathogenic7124897171124897172Human1name
405141171CV2905709duplicationNM_015450.3(POT1):c.949+9_949+11dupTumor predisposition syndrome 3 [RCV003584133]likely benign7124851860124851861Human2name
405247282CV3041094deletionNM_015450.3(POT1):c.1003_1006+10delHereditary cancer-predisposing syndrome [RCV004943195]|Tumor predisposition syndrome 3 [RCV003746311]likely pathogenic|uncertain significance7124846932124846945Human3name
597662654CV3580851deletionNM_015450.3(POT1):c.125-9831_236delHereditary cancer-predisposing syndrome [RCV004946539]likely pathogenic7124870930124880872Human1name
597871541CV3835703deletionNM_015450.3(POT1):c.870-12_870-9delTumor predisposition syndrome 3 [RCV005176694]likely benign7124851960124851963Human2name
597901459CV3851328single nucleotide variantNM_015450.3(POT1):c.15A>C (p.Pro5=)Tumor predisposition syndrome 3 [RCV005202104]likely benign7124892375124892375Human2name
14743956CV655772single nucleotide variantNM_015450.3(POT1):c.21A>T (p.Thr7=)not provided [RCV000842430]likely benign7124892369124892369Humanname
25325344CV808944single nucleotide variantNM_015450.3(POT1):c.15A>G (p.Pro5=)Hereditary cancer-predisposing syndrome [RCV001012304]|Tumor predisposition syndrome 3 [RCV002549366]likely benign7124892375124892375Human3name
126732580CV1027703single nucleotide variantNM_015450.3(POT1):c.8T>C (p.Leu3Ser)Tumor predisposition syndrome 3 [RCV001349627]uncertain significance7124897166124897166Human2name , alternate_id
127277218CV1095979single nucleotide variantNM_015450.3(POT1):c.30A>T (p.Ile10=)Tumor predisposition syndrome 3 [RCV001444250]likely benign7124892360124892360Human2name , alternate_id
127303462CV1117486microsatelliteNM_015450.3(POT1):c.1793-20TTTTGT[2]Hereditary cancer-predisposing syndrome [RCV004038609]|Tumor predisposition syndrome 3 [RCV001461938]likely benign7124824077124824082Humanname , alternate_id
13470113CV457048deletionNM_015450.3(POT1):c.1370-8_1370-6delTumor predisposition syndrome 3 [RCV000545895]uncertain significance7124835420124835422Human2name , alternate_id
13538107CV501549microsatelliteNM_015450.3(POT1):c.-39-15_-39-12delnot provided [RCV001719109]benign|likely benign7124897224124897227Humanname
13624449CV522858single nucleotide variantNM_015450.3(POT1):c.87G>A (p.Val29=)Hereditary cancer-predisposing syndrome [RCV001018365]|Tumor predisposition syndrome 3 [RCV000652241]|not specified [RCV002268238]likely benign7124892303124892303Human3name , alternate_id
126762733CV1007151deletionNM_015450.3(POT1):c.1608_1613del (p.Pro537_Leu538del)POT1-related disorder [RCV004746321]|Tumor predisposition syndrome 3 [RCV001319021]uncertain significance7124827287124827292Human2alternate_id
127311619CV1117491single nucleotide variantNM_015450.3(POT1):c.1473A>G (p.Pro491=)Hereditary cancer-predisposing syndrome [RCV002396068]|POT1-related disorder [RCV003900570]|Tumor predisposition syndrome 3 [RCV001456961]likely benign7124835311124835311Human3alternate_id
151778139CV1370578single nucleotide variantNM_015450.3(POT1):c.937G>A (p.Asp313Asn)Hereditary cancer-predisposing syndrome [RCV002449487]|POT1-related disorder [RCV004746467]|Tumor predisposition syndrome 3 [RCV001864710]|not provided [RCV004770237]likely benign|uncertain significance7124851884124851884Human3alternate_id
152134266CV1646652microsatelliteNM_015450.3(POT1):c.1793-20TTTTGT[4]Hereditary cancer-predisposing syndrome [RCV003161531]|POT1-related disorder [RCV003895838]|Tumor predisposition syndrome 3 [RCV002137331]likely benign7124824076124824077Humanname , alternate_id
401923025CV2796680single nucleotide variantNM_015450.3(POT1):c.346C>A (p.Pro116Thr)POT1-related disorder [RCV003404299]uncertain significance7124863550124863550Humanalternate_id
405288556CV3197459single nucleotide variantNM_015450.3(POT1):c.956G>A (p.Gly319Glu)POT1-related disorder [RCV003982555]uncertain significance7124846992124846992Humanalternate_id
13488672CV456136single nucleotide variantNM_015450.3(POT1):c.1360T>C (p.Leu454=)Hereditary cancer-predisposing syndrome [RCV001011124]|POT1-related disorder [RCV003905450]|Tumor predisposition syndrome 3 [RCV000532501]|not provided [RCV004767381]likely benign|uncertain significance7124840982124840982Human3alternate_id
13477479CV456147single nucleotide variantNM_015450.3(POT1):c.1023G>A (p.Gln341=)Hereditary cancer-predisposing syndrome [RCV001017046]|POT1-related disorder [RCV003945311]|Tumor predisposition syndrome 3 [RCV000527176]|not provided [RCV001574756]likely benign7124842947124842947Human3alternate_id
13475405CV456151single nucleotide variantNM_015450.3(POT1):c.828G>A (p.Arg276=)Hereditary cancer-predisposing syndrome [RCV000572999]|POT1-related disorder [RCV003915629]|Tumor predisposition syndrome 3 [RCV000550876]|not provided [RCV001595017]|not specified [RCV003151102]benign|likely benign7124853013124853013Human3alternate_id
13474311CV456168single nucleotide variantNM_015450.3(POT1):c.751A>G (p.Met251Val)Hereditary cancer-predisposing syndrome [RCV000568291]|POT1-related disorder [RCV003952864]|Tumor predisposition syndrome 3 [RCV000544194]|not provided [RCV003424146]|not specified [RCV000604028]benign|likely benign7124853090124853090Human3alternate_id
13493645CV456403single nucleotide variantNM_015450.3(POT1):c.1178A>G (p.His393Arg)Hereditary cancer-predisposing syndrome [RCV001010151]|POT1-related disorder [RCV003409821]|Tumor predisposition syndrome 3 [RCV000558343]|Tumor predisposition syndrome 3 [RCV005044830]|not provided [RCV001764618]likely benign|uncertain significance7124841164124841164Human5alternate_id
13486601CV456424single nucleotide variantNM_015450.3(POT1):c.977T>C (p.Val326Ala)Hereditary cancer-predisposing syndrome [RCV001019738]|POT1-related disorder [RCV004745479]|Tumor predisposition syndrome 3 [RCV000553819]|Tumor predisposition syndrome 3 [RCV005034118]|not provided [RCV001553289]|not specified [RCV001821631]likely benign|uncertain significance7124846971124846971Human8alternate_id
13501610CV456475single nucleotide variantNM_015450.3(POT1):c.71A>G (p.Asn24Ser)Hereditary cancer-predisposing syndrome [RCV001026145]|POT1-related disorder [RCV004745478]|Tumor predisposition syndrome 3 [RCV000541107]|not provided [RCV001544629]uncertain significance7124892319124892319Human3alternate_id
13474037CV456710single nucleotide variantNM_015450.3(POT1):c.1363A>G (p.Ile455Val)Hereditary cancer-predisposing syndrome [RCV000568785]|POT1-related disorder [RCV004745477]|Tumor predisposition syndrome 3 [RCV000542224]|Tumor predisposition syndrome 3 [RCV005034115]|not provided [RCV002509438]uncertain significance7124840979124840979Human5alternate_id
13491466CV456712single nucleotide variantNM_015450.3(POT1):c.1213G>A (p.Ala405Thr)Hereditary cancer-predisposing syndrome [RCV002358603]|POT1-related disorder [RCV003403334]|Tumor predisposition syndrome 3 [RCV000556726]|Tumor predisposition syndrome 3 [RCV005044831]uncertain significance7124841129124841129Human5alternate_id
13482256CV457086single nucleotide variantNM_015450.3(POT1):c.1087C>T (p.Arg363Ter)Cerebroretinal microangiopathy with calcifications and cysts 3 [RCV005231068]|Hereditary cancer-predisposing syndrome [RCV002431704]|POT1-related disorder [RCV003419989]|Tumor predisposition syndrome 3 [RCV000529317]|not provided [RCV001248813]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance7124842883124842883Human4alternate_id
13475274CV457104single nucleotide variantNM_015450.3(POT1):c.903G>T (p.Gln301His)Hereditary cancer-predisposing syndrome [RCV000572145]|POT1-related disorder [RCV003915630]|Tumor predisposition syndrome 3 [RCV000550194]|Tumor predisposition syndrome 3 [RCV005398863]|not provided [RCV001702523]|not specified [RCV000615443]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance7124851918124851918Human5alternate_id
13470218CV457112single nucleotide variantNM_015450.3(POT1):c.813C>T (p.Tyr271=)Hereditary cancer-predisposing syndrome [RCV000563209]|POT1-related disorder [RCV003945312]|Tumor predisposition syndrome 3 [RCV000557544]|Tumor predisposition syndrome 3 [RCV005398862]|not provided [RCV001697382]likely benign7124853028124853028Human5alternate_id
13489989CV474484single nucleotide variantNM_015450.3(POT1):c.340A>G (p.Ile114Val)Hereditary cancer-predisposing syndrome [RCV000569425]|POT1-related disorder [RCV003905492]|Tumor predisposition syndrome 3 [RCV000652238]|not provided [RCV001548225]likely benign|conflicting interpretations of pathogenicity7124863556124863556Human3alternate_id
13490280CV474608single nucleotide variantNM_015450.3(POT1):c.771A>T (p.Thr257=)Hereditary cancer-predisposing syndrome [RCV000569555]|POT1-related disorder [RCV003925749]|Tumor predisposition syndrome 3 [RCV001082376]|not provided [RCV004808533]|not specified [RCV000603446]likely benign|conflicting interpretations of pathogenicity|uncertain significance7124853070124853070Human3alternate_id
13803408CV561251single nucleotide variantNM_015450.3(POT1):c.1482A>G (p.Ile494Met)Hereditary cancer-predisposing syndrome [RCV001011811]|POT1-related disorder [RCV003411627]|Tumor predisposition syndrome 3 [RCV000699222]|not provided [RCV002298744]uncertain significance7124835302124835302Human3alternate_id
13812834CV563993single nucleotide variantNM_015450.3(POT1):c.1400C>T (p.Ser467Leu)Hereditary cancer-predisposing syndrome [RCV003165899]|POT1-related disorder [RCV003945724]|Tumor predisposition syndrome 3 [RCV000703967]uncertain significance7124835384124835384Human3alternate_id
14742297CV635600single nucleotide variantNM_015450.3(POT1):c.938A>T (p.Asp313Val)Hereditary cancer-predisposing syndrome [RCV001019249]|POT1-related disorder [RCV003411816]|Tumor predisposition syndrome 3 [RCV000822706]uncertain significance7124851883124851883Human3alternate_id
15105589CV722284single nucleotide variantNM_015450.3(POT1):c.141A>G (p.Val47=)Hereditary cancer-predisposing syndrome [RCV002256584]|POT1-related disorder [RCV003957987]|Tumor predisposition syndrome 3 [RCV000893109]likely benign7124871025124871025Human3alternate_id
26899652CV832930single nucleotide variantNM_015450.3(POT1):c.1130C>G (p.Ser377Cys)Hereditary cancer-predisposing syndrome [RCV002320351]|POT1-related disorder [RCV003973042]|Tumor predisposition syndrome 3 [RCV001071036]|not specified [RCV004596408]likely benign|uncertain significance7124842840124842840Human3alternate_id
38492230CV924629single nucleotide variantNM_015450.3(POT1):c.1678A>G (p.Met560Val)Hereditary cancer-predisposing syndrome [RCV003163741]|POT1-related disorder [RCV004746277]|Tumor predisposition syndrome 3 [RCV001223434]likely benign|uncertain significance7124827222124827222Human3alternate_id
126741064CV1001542deletionNC_000007.13:g.(?_124510955)_(124537227_?)delTumor predisposition syndrome 3 [RCV001325291]pathogenic|uncertain significanceHuman2alternate_id
126736088CV1007143single nucleotide variantNM_015450.3(POT1):c.1872T>G (p.Ile624Met)Hereditary cancer-predisposing syndrome [RCV002412003]|Tumor predisposition syndrome 3 [RCV001313809]uncertain significance7124823995124823995Human3alternate_id
126744644CV1007144single nucleotide variantNM_015450.3(POT1):c.1850A>C (p.Asp617Ala)Hereditary cancer-predisposing syndrome [RCV002412009]|Tumor predisposition syndrome 3 [RCV001314965]uncertain significance7124824017124824017Human3alternate_id
126757147CV1007145single nucleotide variantNM_015450.3(POT1):c.1801C>A (p.Pro601Thr)Hereditary cancer-predisposing syndrome [RCV002412020]|Tumor predisposition syndrome 3 [RCV001317401]uncertain significance7124824066124824066Human3alternate_id
126759969CV1007146single nucleotide variantNM_015450.3(POT1):c.1793A>T (p.Asp598Val)Tumor predisposition syndrome 3 [RCV001318206]uncertain significance7124824074124824074Human2alternate_id
126758994CV1007147single nucleotide variantNM_015450.3(POT1):c.1785A>G (p.Ile595Met)Hereditary cancer-predisposing syndrome [RCV002402886]|Tumor predisposition syndrome 3 [RCV001317939]uncertain significance7124825259124825259Human3alternate_id
126769693CV1007148single nucleotide variantNM_015450.3(POT1):c.1750G>A (p.Asp584Asn)Tumor predisposition syndrome 3 [RCV001322121]uncertain significance7124825294124825294Human2alternate_id
126753336CV1007149single nucleotide variantNM_015450.3(POT1):c.1711T>G (p.Ser571Ala)Hereditary cancer-predisposing syndrome [RCV002256738]|Tumor predisposition syndrome 3 [RCV001316462]|not provided [RCV001587336]conflicting interpretations of pathogenicity|uncertain significance7124825333124825333Human3alternate_id
126771290CV1007150single nucleotide variantNM_015450.3(POT1):c.1678A>C (p.Met560Leu)Hereditary cancer-predisposing syndrome [RCV002402901]|Tumor predisposition syndrome 3 [RCV001323073]|not specified [RCV002246297]uncertain significance7124827222124827222Human3alternate_id
126763703CV1007152single nucleotide variantNM_015450.3(POT1):c.1523G>A (p.Ser508Asn)Hereditary cancer-predisposing syndrome [RCV002395691]|Tumor predisposition syndrome 3 [RCV001319352]|not provided [RCV003314686]likely benign|uncertain significance7124829325124829325Human3alternate_id
126770139CV1007153single nucleotide variantNM_015450.3(POT1):c.1502A>G (p.Tyr501Cys)Hereditary cancer-predisposing syndrome [RCV002395708]|Tumor predisposition syndrome 3 [RCV001322388]|not provided [RCV003433109]uncertain significance7124835282124835282Human3alternate_id
126755970CV1007154single nucleotide variantNM_015450.3(POT1):c.1450G>A (p.Glu484Lys)Hereditary cancer-predisposing syndrome [RCV002395729]|Tumor predisposition syndrome 3 [RCV001327869]uncertain significance7124835334124835334Human3alternate_id
126750270CV1007155single nucleotide variantNM_015450.3(POT1):c.1384G>A (p.Glu462Lys)Tumor predisposition syndrome 3 [RCV001315885]uncertain significance7124835400124835400Human2alternate_id
126761864CV1007156single nucleotide variantNM_015450.3(POT1):c.1234A>G (p.Lys412Glu)Hereditary cancer-predisposing syndrome [RCV002366177]|Tumor predisposition syndrome 3 [RCV001318765]likely benign|uncertain significance7124841108124841108Human3alternate_id
126751031CV1007157single nucleotide variantNM_015450.3(POT1):c.1015G>T (p.Asp339Tyr)Tumor predisposition syndrome 3 [RCV001326835]uncertain significance7124842955124842955Human2alternate_id
126769137CV1007158single nucleotide variantNM_015450.3(POT1):c.992A>G (p.Gln331Arg)Tumor predisposition syndrome 3 [RCV001321772]|not provided [RCV003478781]uncertain significance7124846956124846956Human2alternate_id
126761966CV1007159single nucleotide variantNM_015450.3(POT1):c.964T>C (p.Ser322Pro)Tumor predisposition syndrome 3 [RCV001318795]uncertain significance7124846984124846984Human2alternate_id
126770304CV1007160single nucleotide variantNM_015450.3(POT1):c.953C>T (p.Ser318Phe)Hereditary cancer-predisposing syndrome [RCV004945008]|Tumor predisposition syndrome 3 [RCV001322492]uncertain significance7124846995124846995Human3alternate_id
126753665CV1007163single nucleotide variantNM_015450.3(POT1):c.834G>T (p.Leu278Phe)Hereditary cancer-predisposing syndrome [RCV002438755]|Tumor predisposition syndrome 3 [RCV001327330]uncertain significance7124853007124853007Human3alternate_id
126742582CV1007164single nucleotide variantNM_015450.3(POT1):c.814G>T (p.Gly272Cys)Tumor predisposition syndrome 3 [RCV001325504]uncertain significance7124853027124853027Human2alternate_id
126755367CV1007165single nucleotide variantNM_015450.3(POT1):c.769A>G (p.Thr257Ala)Hereditary cancer-predisposing syndrome [RCV003169539]|Tumor predisposition syndrome 3 [RCV001327723]likely benign|uncertain significance7124853072124853072Human3alternate_id
126759918CV1007166single nucleotide variantNM_015450.3(POT1):c.676C>A (p.His226Asn)Tumor predisposition syndrome 3 [RCV001318191]uncertain significance7124858983124858983Human2alternate_id
126748361CV1007167single nucleotide variantNM_015450.3(POT1):c.634C>T (p.Arg212Trp)Hereditary cancer-predisposing syndrome [RCV002366206]|Tumor predisposition syndrome 3 [RCV001326327]|not provided [RCV005416518]uncertain significance7124859025124859025Human3alternate_id
126733600CV1007168single nucleotide variantNM_015450.3(POT1):c.323G>A (p.Gly108Glu)Hereditary cancer-predisposing syndrome [RCV002322220]|Tumor predisposition syndrome 3 [RCV001313424]|not provided [RCV001751598]uncertain significance7124863573124863573Human3alternate_id
126754767CV1007169single nucleotide variantNM_015450.3(POT1):c.290C>T (p.Thr97Ile)Hereditary cancer-predisposing syndrome [RCV004945005]|Tumor predisposition syndrome 3 [RCV001316783]uncertain significance7124863606124863606Human3alternate_id
126764788CV1007170single nucleotide variantNM_015450.3(POT1):c.281A>G (p.Gln94Arg)Tumor predisposition syndrome 3 [RCV001319788]uncertain significance7124863615124863615Human2alternate_id
126750225CV1007171deletionNM_015450.3(POT1):c.274_276del (p.Glu92del)Tumor predisposition syndrome 3 [RCV001326688]uncertain significance7124863620124863622Human2alternate_id
126747453CV1007172single nucleotide variantNM_015450.3(POT1):c.229G>T (p.Asp77Tyr)Tumor predisposition syndrome 3 [RCV001326157]uncertain significance7124870937124870937Human2alternate_id
126727417CV1007173single nucleotide variantNM_015450.3(POT1):c.44A>G (p.Asn15Ser)Hereditary cancer [RCV005232260]|Hereditary cancer-predisposing syndrome [RCV002327691]|Tumor predisposition syndrome 3 [RCV001312269]|not provided [RCV003442838]uncertain significance7124892346124892346Human3alternate_id
126732168CV1007174single nucleotide variantNM_015450.3(POT1):c.22A>G (p.Asn8Asp)Tumor predisposition syndrome 3 [RCV001313168]|not provided [RCV003235545]uncertain significance7124892368124892368Human2alternate_id
126757072CV1022276deletionNC_000007.13:g.(?_124482851)_(124483027_?)delTumor predisposition syndrome 3 [RCV001339461]pathogenic|uncertain significanceHuman2alternate_id
126757075CV1022277deletionNC_000007.13:g.(?_124499001)_(124511105_?)delTumor predisposition syndrome 3 [RCV001339462]pathogenic|uncertain significanceHuman2alternate_id
126765923CV1027671single nucleotide variantNM_015450.3(POT1):c.1877A>T (p.Asp626Val)Hereditary cancer-predisposing syndrome [RCV003169635]|Tumor predisposition syndrome 3 [RCV001342223]likely benign|uncertain significance7124823990124823990Human3alternate_id
126765834CV1027672single nucleotide variantNM_015450.3(POT1):c.1772G>T (p.Cys591Phe)Hereditary cancer-predisposing syndrome [RCV004945032]|Tumor predisposition syndrome 3 [RCV001342189]|not provided [RCV004998835]uncertain significance7124825272124825272Human3alternate_id
126754419CV1027674single nucleotide variantNM_015450.3(POT1):c.1633A>G (p.Thr545Ala)Tumor predisposition syndrome 3 [RCV001338812]uncertain significance7124827267124827267Human2alternate_id
126729252CV1027676single nucleotide variantNM_015450.3(POT1):c.1514A>G (p.Gln505Arg)Hereditary cancer-predisposing syndrome [RCV002395772]|Tumor predisposition syndrome 3 [RCV001349074]likely benign|uncertain significance7124829334124829334Human3alternate_id
126732696CV1027677single nucleotide variantNM_015450.3(POT1):c.1468G>A (p.Ala490Thr)Hereditary cancer-predisposing syndrome [RCV004651607]|Tumor predisposition syndrome 3 [RCV001349648]uncertain significance7124835316124835316Human3alternate_id
126751322CV1027678insertionNM_015450.3(POT1):c.1414_1415insT (p.Ser472fs)Tumor predisposition syndrome 3 [RCV001338215]pathogenic|uncertain significance7124835369124835370Human2alternate_id
126775013CV1027679indelNM_015450.3(POT1):c.1394_1395delinsCT (p.Lys465Thr)Tumor predisposition syndrome 3 [RCV001347889]uncertain significance7124835389124835390Humanalternate_id
126773200CV1027680single nucleotide variantNM_015450.3(POT1):c.1262C>A (p.Ser421Ter)Tumor predisposition syndrome 3 [RCV001346052]pathogenic|uncertain significance7124841080124841080Human2alternate_id
126733532CV1027681single nucleotide variantNM_015450.3(POT1):c.1030G>T (p.Glu344Ter)Tumor predisposition syndrome 3 [RCV001349796]pathogenic|uncertain significance7124842940124842940Human2alternate_id
126744913CV1027682single nucleotide variantNM_015450.3(POT1):c.1006A>T (p.Ile336Leu)Tumor predisposition syndrome 3 [RCV001351337]uncertain significance7124846942124846942Human2alternate_id
126762335CV1027683single nucleotide variantNM_015450.3(POT1):c.964T>A (p.Ser322Thr)Tumor predisposition syndrome 3 [RCV001340940]uncertain significance7124846984124846984Human2alternate_id
126766877CV1027684single nucleotide variantNM_015450.3(POT1):c.932C>G (p.Pro311Arg)Tumor predisposition syndrome 3 [RCV001342597]uncertain significance7124851889124851889Human2alternate_id
126765868CV1027685single nucleotide variantNM_015450.3(POT1):c.853G>A (p.Val285Met)Hereditary cancer-predisposing syndrome [RCV002447403]|Tumor predisposition syndrome 3 [RCV001342201]|not provided [RCV003478786]uncertain significance7124852988124852988Human3alternate_id
126773901CV1027686single nucleotide variantNM_015450.3(POT1):c.842G>A (p.Ser281Asn)Tumor predisposition syndrome 3 [RCV001346609]uncertain significance7124852999124852999Human2alternate_id
126748105CV1027687single nucleotide variantNM_015450.3(POT1):c.740A>G (p.Lys247Arg)Hereditary cancer-predisposing syndrome [RCV003169747]|Tumor predisposition syndrome 3 [RCV001351795]uncertain significance7124853101124853101Human3alternate_id
126771710CV1027688single nucleotide variantNM_015450.3(POT1):c.739A>G (p.Lys247Glu)Tumor predisposition syndrome 3 [RCV001345201]uncertain significance7124853102124853102Human2alternate_id
126733469CV1027689single nucleotide variantNM_015450.3(POT1):c.652A>G (p.Ile218Val)Hereditary cancer-predisposing syndrome [RCV003169726]|Tumor predisposition syndrome 3 [RCV001349786]likely benign|uncertain significance7124859007124859007Human3alternate_id
126774929CV1027690single nucleotide variantNM_015450.3(POT1):c.452T>G (p.Leu151Arg)Tumor predisposition syndrome 3 [RCV001347790]uncertain significance7124863444124863444Human2alternate_id
126736506CV1027691single nucleotide variantNM_015450.3(POT1):c.342C>G (p.Ile114Met)Hereditary cancer-predisposing syndrome [RCV002456523]|Tumor predisposition syndrome 3 [RCV001350233]|not provided [RCV001762603]uncertain significance7124863554124863554Human3alternate_id
126746588CV1027692single nucleotide variantNM_015450.3(POT1):c.188G>T (p.Ser63Ile)Hereditary cancer-predisposing syndrome [RCV004945053]|Tumor predisposition syndrome 3 [RCV001351541]uncertain significance7124870978124870978Human3alternate_id
126751952CV1027693single nucleotide variantNM_015450.3(POT1):c.176G>A (p.Cys59Tyr)Hereditary cancer-predisposing syndrome [RCV002413837]|Tumor predisposition syndrome 3 [RCV001352525]|not provided [RCV003225182]uncertain significance7124870990124870990Human3alternate_id
126747197CV1027694single nucleotide variantNM_015450.3(POT1):c.175T>G (p.Cys59Gly)Hereditary cancer-predisposing syndrome [RCV002402924]|Tumor predisposition syndrome 3 [RCV001337435]uncertain significance7124870991124870991Human3alternate_id
126753792CV1027695single nucleotide variantNM_015450.3(POT1):c.173C>T (p.Thr58Ile)Tumor predisposition syndrome 3 [RCV001338669]uncertain significance7124870993124870993Human2alternate_id
126771411CV1027696single nucleotide variantNM_015450.3(POT1):c.155A>G (p.Gln52Arg)Tumor predisposition syndrome 3 [RCV001345029]uncertain significance7124871011124871011Human2alternate_id
126765237CV1027697single nucleotide variantNM_015450.3(POT1):c.143C>T (p.Thr48Ile)Hereditary cancer-predisposing syndrome [RCV002395745]|Tumor predisposition syndrome 3 [RCV001341955]uncertain significance7124871023124871023Human3alternate_id
126773520CV1027698single nucleotide variantNM_015450.3(POT1):c.131G>T (p.Cys44Phe)Tumor predisposition syndrome 3 [RCV001346231]uncertain significance7124871035124871035Human2alternate_id
126728096CV1027700single nucleotide variantNM_015450.3(POT1):c.97A>G (p.Lys33Glu)Tumor predisposition syndrome 3 [RCV001348846]uncertain significance7124892293124892293Human2alternate_id
126747559CV1027701single nucleotide variantNM_015450.3(POT1):c.70A>G (p.Asn24Asp)Hereditary cancer-predisposing syndrome [RCV002368155]|Tumor predisposition syndrome 3 [RCV001351690]uncertain significance7124892320124892320Human3alternate_id
126921155CV1039101deletionNC_000007.13:g.(?_124486986)_(124537227_?)delTumor predisposition syndrome 3 [RCV001374225]pathogenic|uncertain significanceHuman2alternate_id
126912731CV1044603single nucleotide variantNM_015450.3(POT1):c.1896T>G (p.Asp632Glu)Tumor predisposition syndrome 3 [RCV001369842]uncertain significance7124823971124823971Human2alternate_id
126910389CV1044604single nucleotide variantNM_015450.3(POT1):c.1732G>A (p.Asp578Asn)Tumor predisposition syndrome 3 [RCV001368852]|not provided [RCV004590355]uncertain significance7124825312124825312Human2alternate_id
126909267CV1044605single nucleotide variantNM_015450.3(POT1):c.1701G>C (p.Gln567His)Hereditary cancer-predisposing syndrome [RCV004037039]|Tumor predisposition syndrome 3 [RCV001368350]uncertain significance7124825343124825343Human3alternate_id
126921706CV1044606duplicationNM_015450.3(POT1):c.1672dup (p.Tyr558fs)Hereditary cancer-predisposing syndrome [RCV002404862]|Tumor predisposition syndrome 3 [RCV001363810]pathogenic|uncertain significance7124827227124827228Human3alternate_id
126921746CV1044607deletionNM_015450.3(POT1):c.1502_1503del (p.Tyr501fs)Hereditary cancer-predisposing syndrome [RCV004945073]|Tumor predisposition syndrome 3 [RCV001363858]pathogenic|uncertain significance7124835281124835282Human3alternate_id
126924493CV1044608single nucleotide variantNM_015450.3(POT1):c.1465T>C (p.Ser489Pro)Tumor predisposition syndrome 3 [RCV001367100]uncertain significance7124835319124835319Human2alternate_id
126916685CV1044609single nucleotide variantNM_015450.3(POT1):c.1443A>C (p.Glu481Asp)Tumor predisposition syndrome 3 [RCV001360721]uncertain significance7124835341124835341Human2alternate_id
126912864CV1044610single nucleotide variantNM_015450.3(POT1):c.1325A>G (p.Asn442Ser)Hereditary cancer-predisposing syndrome [RCV004945058]|Tumor predisposition syndrome 3 [RCV001358962]likely benign|uncertain significance7124841017124841017Human3alternate_id
126909450CV1044611single nucleotide variantNM_015450.3(POT1):c.1081C>G (p.Arg361Gly)Tumor predisposition syndrome 3 [RCV001368501]uncertain significance7124842889124842889Human2alternate_id
126922606CV1044612single nucleotide variantNM_015450.3(POT1):c.1076A>T (p.Gln359Leu)Tumor predisposition syndrome 3 [RCV001364866]uncertain significance7124842894124842894Human2alternate_id
126915093CV1044613single nucleotide variantNM_015450.3(POT1):c.1040C>T (p.Pro347Leu)Hereditary cancer-predisposing syndrome [RCV002395797]|Tumor predisposition syndrome 3 [RCV001359786]uncertain significance7124842930124842930Human3alternate_id
126920296CV1044614single nucleotide variantNM_015450.3(POT1):c.974A>G (p.Glu325Gly)Hereditary cancer-predisposing syndrome [RCV004945071]|Tumor predisposition syndrome 3 [RCV001362793]uncertain significance7124846974124846974Human3alternate_id
126919091CV1044615deletionNM_015450.3(POT1):c.873_885del (p.Asp291fs)Tumor predisposition syndrome 3 [RCV001373036]pathogenic|uncertain significance7124851936124851948Human2alternate_id
126917988CV1044616single nucleotide variantNM_015450.3(POT1):c.820G>A (p.Gly274Arg)Tumor predisposition syndrome 3 [RCV001361476]uncertain significance7124853021124853021Human2alternate_id
126924410CV1044617deletionNM_015450.3(POT1):c.777_781del (p.Leu259fs)Hereditary cancer-predisposing syndrome [RCV004945083]|Tumor predisposition syndrome 3 [RCV001367001]pathogenic|uncertain significance7124853060124853064Human3alternate_id
126923051CV1044618insertionNM_015450.3(POT1):c.744_745insA (p.Gln249fs)Tumor predisposition syndrome 3 [RCV001365403]pathogenic|uncertain significance7124853096124853097Human2alternate_id
126920502CV1044619single nucleotide variantNM_015450.3(POT1):c.701A>C (p.Lys234Thr)Hereditary cancer-predisposing syndrome [RCV004945104]|Tumor predisposition syndrome 3 [RCV001373843]uncertain significance7124858958124858958Human3alternate_id
126914365CV1044620single nucleotide variantNM_015450.3(POT1):c.619T>G (p.Leu207Val)Hereditary cancer-predisposing syndrome [RCV004945092]|Tumor predisposition syndrome 3 [RCV001370447]uncertain significance7124859040124859040Human3alternate_id
126921233CV1044621single nucleotide variantNM_015450.3(POT1):c.386A>G (p.Asp129Gly)Tumor predisposition syndrome 3 [RCV001363359]uncertain significance7124863510124863510Human2alternate_id
126916290CV1044622duplicationNM_015450.3(POT1):c.329dup (p.Leu110fs)Hereditary cancer-predisposing syndrome [RCV004651621]|Tumor predisposition syndrome 3 [RCV001360488]pathogenic|uncertain significance7124863566124863567Human3alternate_id
126919457CV1044623single nucleotide variantNM_015450.3(POT1):c.308C>T (p.Ser103Phe)Tumor predisposition syndrome 3 [RCV001373238]uncertain significance7124863588124863588Human2alternate_id
126909054CV1044624single nucleotide variantNM_015450.3(POT1):c.119G>A (p.Gly40Glu)Hereditary cancer-predisposing syndrome [RCV002350703]|Tumor predisposition syndrome 3 [RCV001368211]|not specified [RCV001820070]uncertain significance7124892271124892271Human3alternate_id
126915949CV1044625single nucleotide variantNM_015450.3(POT1):c.116A>G (p.Lys39Arg)Hereditary cancer-predisposing syndrome [RCV003382552]|Tumor predisposition syndrome 3 [RCV001360284]|not provided [RCV004794532]uncertain significance7124892274124892274Human3alternate_id
126923611CV1044626single nucleotide variantNM_015450.3(POT1):c.103C>G (p.Pro35Ala)Tumor predisposition syndrome 3 [RCV001366039]uncertain significance7124892287124892287Human2alternate_id
126918569CV1044627single nucleotide variantNM_015450.3(POT1):c.93C>A (p.Phe31Leu)Tumor predisposition syndrome 3 [RCV001372734]uncertain significance7124892297124892297Human2alternate_id
126913286CV1044628single nucleotide variantNM_015450.3(POT1):c.72T>A (p.Asn24Lys)Tumor predisposition syndrome 3 [RCV001359118]uncertain significance7124892318124892318Human2alternate_id
127263816CV1074342single nucleotide variantNM_015450.3(POT1):c.1794T>C (p.Asp598=)Tumor predisposition syndrome 3 [RCV001403093]likely benign7124824073124824073Human2alternate_id
127245033CV1074343single nucleotide variantNM_015450.3(POT1):c.1665A>G (p.Leu555=)Hereditary cancer-predisposing syndrome [RCV002404979]|Tumor predisposition syndrome 3 [RCV001416430]likely benign7124827235124827235Human3alternate_id
127280684CV1074344single nucleotide variantNM_015450.3(POT1):c.1635C>T (p.Thr545=)Hereditary cancer-predisposing syndrome [RCV002395925]|Tumor predisposition syndrome 3 [RCV001409954]likely benign7124827265124827265Human3alternate_id
127274744CV1074345single nucleotide variantNM_015450.3(POT1):c.1608A>G (p.Val536=)Hereditary cancer-predisposing syndrome [RCV002404951]|Tumor predisposition syndrome 3 [RCV001406424]likely benign7124827292124827292Human3alternate_id
127259271CV1074346single nucleotide variantNM_015450.3(POT1):c.1545A>G (p.Leu515=)Hereditary cancer-predisposing syndrome [RCV002404985]|Tumor predisposition syndrome 3 [RCV001419750]likely benign7124829303124829303Human3alternate_id
127247059CV1074347single nucleotide variantNM_015450.3(POT1):c.1512A>G (p.Lys504=)Tumor predisposition syndrome 3 [RCV001416845]likely benign7124829336124829336Human2alternate_id
127237095CV1074349single nucleotide variantNM_015450.3(POT1):c.903G>C (p.Gln301His)Tumor predisposition syndrome 3 [RCV001392227]likely benign7124851918124851918Human2alternate_id
127249206CV1074350single nucleotide variantNM_015450.3(POT1):c.741A>G (p.Lys247=)Hereditary cancer-predisposing syndrome [RCV002384616]|Tumor predisposition syndrome 3 [RCV001417283]likely benign7124853100124853100Human3alternate_id
127240674CV1074351single nucleotide variantNM_015450.3(POT1):c.561C>G (p.Thr187=)Tumor predisposition syndrome 3 [RCV001392968]likely benign7124859098124859098Human2alternate_id
127252160CV1074353single nucleotide variantNM_015450.3(POT1):c.510C>A (p.Gly170=)Hereditary cancer-predisposing syndrome [RCV004038152]|Tumor predisposition syndrome 3 [RCV001418003]likely benign7124863386124863386Human3alternate_id
127246583CV1074354single nucleotide variantNM_015450.3(POT1):c.411T>G (p.Arg137=)Tumor predisposition syndrome 3 [RCV001416765]likely benign7124863485124863485Human2alternate_id
127239785CV1074355single nucleotide variantNM_015450.3(POT1):c.405C>A (p.Ala135=)Tumor predisposition syndrome 3 [RCV001397645]likely benign7124863491124863491Human2alternate_id
127233634CV1074356single nucleotide variantNM_015450.3(POT1):c.381T>C (p.Thr127=)Hereditary cancer-predisposing syndrome [RCV002255661]|Tumor predisposition syndrome 3 [RCV001413970]likely benign7124863515124863515Human3alternate_id
127266016CV1074357single nucleotide variantNM_015450.3(POT1):c.273G>A (p.Lys91=)Hereditary cancer-predisposing syndrome [RCV002438929]|Tumor predisposition syndrome 3 [RCV001403735]likely benign7124863623124863623Human3alternate_id
127281714CV1095958single nucleotide variantNM_015450.3(POT1):c.1611C>T (p.Pro537=)Hereditary cancer-predisposing syndrome [RCV002396034]|Tumor predisposition syndrome 3 [RCV001447315]likely benign7124827289124827289Human3alternate_id
127281898CV1095962single nucleotide variantNM_015450.3(POT1):c.1440C>T (p.His480=)Hereditary cancer-predisposing syndrome [RCV002396036]|Tumor predisposition syndrome 3 [RCV001447464]likely benign7124835344124835344Human3alternate_id
127277624CV1095963single nucleotide variantNM_015450.3(POT1):c.1389T>C (p.Ile463=)Hereditary cancer-predisposing syndrome [RCV002396028]|Tumor predisposition syndrome 3 [RCV001444538]likely benign7124835395124835395Human3alternate_id
127255618CV1095964single nucleotide variantNM_015450.3(POT1):c.1305A>G (p.Ala435=)Hereditary cancer-predisposing syndrome [RCV002384662]|Tumor predisposition syndrome 3 [RCV001437492]likely benign7124841037124841037Human3alternate_id
127252604CV1095965single nucleotide variantNM_015450.3(POT1):c.1305A>C (p.Ala435=)Hereditary cancer-predisposing syndrome [RCV002384661]|Tumor predisposition syndrome 3 [RCV001436842]likely benign7124841037124841037Human3alternate_id
127278602CV1095967single nucleotide variantNM_015450.3(POT1):c.1159T>C (p.Leu387=)Tumor predisposition syndrome 3 [RCV001445169]likely benign7124842811124842811Human2alternate_id
127257662CV1095968single nucleotide variantNM_015450.3(POT1):c.1137A>G (p.Lys379=)Tumor predisposition syndrome 3 [RCV001437937]likely benign7124842833124842833Human2alternate_id
127268388CV1095969single nucleotide variantNM_015450.3(POT1):c.1044A>G (p.Leu348=)Hereditary cancer-predisposing syndrome [RCV002405035]|Tumor predisposition syndrome 3 [RCV001440767]likely benign7124842926124842926Human3alternate_id
127278334CV1095970single nucleotide variantNM_015450.3(POT1):c.987T>C (p.Cys329=)Hereditary cancer-predisposing syndrome [RCV003160794]|Tumor predisposition syndrome 3 [RCV001445012]likely benign7124846961124846961Human3alternate_id
127260307CV1095971single nucleotide variantNM_015450.3(POT1):c.957A>T (p.Gly319=)Hereditary cancer-predisposing syndrome [RCV002377711]|Tumor predisposition syndrome 3 [RCV001438546]likely benign7124846991124846991Human3alternate_id
127275258CV1095972single nucleotide variantNM_015450.3(POT1):c.927A>G (p.Ser309=)Tumor predisposition syndrome 3 [RCV001443259]likely benign7124851894124851894Human2alternate_id
127270776CV1095973single nucleotide variantNM_015450.3(POT1):c.729C>T (p.Ser243=)Hereditary cancer-predisposing syndrome [RCV002384675]|Tumor predisposition syndrome 3 [RCV001441559]likely benign7124853112124853112Human3alternate_id
127271604CV1095974single nucleotide variantNM_015450.3(POT1):c.651A>G (p.Thr217=)Hereditary cancer-predisposing syndrome [RCV002368338]|Tumor predisposition syndrome 3 [RCV001431022]likely benign7124859008124859008Human3alternate_id
127280674CV1095975single nucleotide variantNM_015450.3(POT1):c.567A>G (p.Thr189=)Hereditary cancer-predisposing syndrome [RCV002350898]|Tumor predisposition syndrome 3 [RCV001446649]likely benign7124859092124859092Human3alternate_id
127241007CV1095976single nucleotide variantNM_015450.3(POT1):c.399A>T (p.Val133=)Tumor predisposition syndrome 3 [RCV001434335]likely benign7124863497124863497Human2alternate_id
127243128CV1095977single nucleotide variantNM_015450.3(POT1):c.330G>A (p.Leu110=)Hereditary cancer-predisposing syndrome [RCV003284317]|Tumor predisposition syndrome 3 [RCV001423892]likely benign7124863566124863566Human3alternate_id
127337121CV1117485single nucleotide variantNM_015450.3(POT1):c.1830C>T (p.Tyr610=)Hereditary cancer-predisposing syndrome [RCV002414149]|Tumor predisposition syndrome 3 [RCV001475407]likely benign7124824037124824037Human3alternate_id
127299667CV1117487deletionNM_015450.3(POT1):c.1793-10_1793-8delHereditary cancer-predisposing syndrome [RCV002255673]|Tumor predisposition syndrome 3 [RCV001478260]|not specified [RCV001820176]likely benign|uncertain significance7124824082124824084Human3name , alternate_id
127289191CV1117488single nucleotide variantNM_015450.3(POT1):c.1656A>C (p.Thr552=)Hereditary cancer-predisposing syndrome [RCV002396045]|Tumor predisposition syndrome 3 [RCV001450820]|not provided [RCV003478838]|not specified [RCV003493858]likely benign7124827244124827244Human3alternate_id
127320236CV1117489single nucleotide variantNM_015450.3(POT1):c.1638T>C (p.Phe546=)Hereditary cancer-predisposing syndrome [RCV002405094]|Tumor predisposition syndrome 3 [RCV001466857]likely benign7124827262124827262Human3alternate_id
127305263CV1117490single nucleotide variantNM_015450.3(POT1):c.1533C>G (p.Ser511=)Hereditary cancer-predisposing syndrome [RCV004945164]|Tumor predisposition syndrome 3 [RCV001462445]likely benign7124829315124829315Human3alternate_id
127304760CV1117492single nucleotide variantNM_015450.3(POT1):c.1449G>A (p.Leu483=)Hereditary cancer-predisposing syndrome [RCV002396060]|Tumor predisposition syndrome 3 [RCV001455063]likely benign7124835335124835335Human3alternate_id
127292702CV1117493single nucleotide variantNM_015450.3(POT1):c.1269C>T (p.Ile423=)Hereditary cancer-predisposing syndrome [RCV002449265]|Tumor predisposition syndrome 3 [RCV001476376]likely benign7124841073124841073Human3alternate_id
127330095CV1117494single nucleotide variantNM_015450.3(POT1):c.1167A>G (p.Gln389=)Hereditary cancer-predisposing syndrome [RCV002329562]|Tumor predisposition syndrome 3 [RCV001470642]likely benign7124841175124841175Human3alternate_id
127306810CV1117496single nucleotide variantNM_015450.3(POT1):c.933T>A (p.Pro311=)Hereditary cancer-predisposing syndrome [RCV002377757]|Tumor predisposition syndrome 3 [RCV001455650]likely benign7124851888124851888Human3alternate_id
127292186CV1117498single nucleotide variantNM_015450.3(POT1):c.837A>G (p.Pro279=)Hereditary cancer-predisposing syndrome [RCV003339644]|Tumor predisposition syndrome 3 [RCV001451711]likely benign7124853004124853004Human3alternate_id
127313869CV1117500single nucleotide variantNM_015450.3(POT1):c.366T>C (p.Tyr122=)Tumor predisposition syndrome 3 [RCV001464773]likely benign7124863530124863530Human2alternate_id
127307635CV1117501single nucleotide variantNM_015450.3(POT1):c.342C>T (p.Ile114=)Hereditary cancer-predisposing syndrome [RCV002456787]|Tumor predisposition syndrome 3 [RCV001463095]likely benign7124863554124863554Human3alternate_id
127292882CV1117503single nucleotide variantNM_015450.3(POT1):c.169C>T (p.Leu57=)Hereditary cancer-predisposing syndrome [RCV002405077]|Tumor predisposition syndrome 3 [RCV001459066]likely benign7124870997124870997Human3alternate_id
127302780CV1117504single nucleotide variantNM_015450.3(POT1):c.111A>C (p.Leu37=)Tumor predisposition syndrome 3 [RCV001454517]likely benign7124892279124892279Human2alternate_id
127315181CV1117505single nucleotide variantNM_015450.3(POT1):c.102C>T (p.Pro34=)Hereditary cancer-predisposing syndrome [RCV004651666]|Tumor predisposition syndrome 3 [RCV001465158]likely benign7124892288124892288Human3alternate_id
127309644CV1138416single nucleotide variantNM_015450.3(POT1):c.1869G>A (p.Gln623=)Hereditary cancer-predisposing syndrome [RCV002414214]|Tumor predisposition syndrome 3 [RCV001501123]likely benign7124823998124823998Human3alternate_id
127320234CV1138417single nucleotide variantNM_015450.3(POT1):c.1677C>T (p.Leu559=)Hereditary cancer-predisposing syndrome [RCV002405197]|Tumor predisposition syndrome 3 [RCV001504330]likely benign7124827223124827223Human3alternate_id
127311014CV1138418single nucleotide variantNM_015450.3(POT1):c.1635C>G (p.Thr545=)Tumor predisposition syndrome 3 [RCV001501513]likely benign7124827265124827265Human2alternate_id
127325548CV1138419single nucleotide variantNM_015450.3(POT1):c.1597C>T (p.Leu533=)Hereditary cancer-predisposing syndrome [RCV004651681]|Tumor predisposition syndrome 3 [RCV001506045]likely benign7124827303124827303Human3alternate_id
127305607CV1138420single nucleotide variantNM_015450.3(POT1):c.1566A>T (p.Thr522=)Tumor predisposition syndrome 3 [RCV001479802]likely benign7124829282124829282Human2alternate_id
127320461CV1138421single nucleotide variantNM_015450.3(POT1):c.1356A>G (p.Leu452=)Hereditary cancer-predisposing syndrome [RCV002258279]|Tumor predisposition syndrome 3 [RCV001484214]likely benign7124840986124840986Human3alternate_id
127320407CV1138422single nucleotide variantNM_015450.3(POT1):c.1350A>G (p.Glu450=)Hereditary cancer-predisposing syndrome [RCV004037836]|Tumor predisposition syndrome 3 [RCV001504376]likely benign7124840992124840992Human3alternate_id
127297642CV1138423single nucleotide variantNM_015450.3(POT1):c.1071T>C (p.Pro357=)Tumor predisposition syndrome 3 [RCV001497817]likely benign7124842899124842899Human2alternate_id
127304496CV1138426single nucleotide variantNM_015450.3(POT1):c.711C>T (p.Ser237=)Hereditary cancer-predisposing syndrome [RCV002368470]|Tumor predisposition syndrome 3 [RCV001479515]|not specified [RCV004596462]likely benign7124853130124853130Human3alternate_id
127320383CV1138428single nucleotide variantNM_015450.3(POT1):c.636G>A (p.Arg212=)Hereditary cancer-predisposing syndrome [RCV004651673]|Tumor predisposition syndrome 3 [RCV001484172]likely benign7124859023124859023Human3alternate_id
127300832CV1138429single nucleotide variantNM_015450.3(POT1):c.627C>T (p.His209=)Tumor predisposition syndrome 3 [RCV001498679]likely benign7124859032124859032Human2alternate_id
127321063CV1138430single nucleotide variantNM_015450.3(POT1):c.549A>G (p.Val183=)Hereditary cancer-predisposing syndrome [RCV004651679]|Tumor predisposition syndrome 3 [RCV001504647]likely benign|uncertain significance7124859110124859110Human3alternate_id
127321893CV1138431single nucleotide variantNM_015450.3(POT1):c.270A>G (p.Lys90=)Hereditary cancer-predisposing syndrome [RCV002432359]|Tumor predisposition syndrome 3 [RCV001484736]likely benign7124863626124863626Human3alternate_id
8590334CV125025single nucleotide variantNR_125718.1(POT1-AS1):n.250+16778C>ALung cancer [RCV000105544]uncertain significance7124957163124957163Humanname
8590336CV125027single nucleotide variantNR_125718.1(POT1-AS1):n.663-44362C>ALung cancer [RCV000105546]uncertain significance7125072512125072512Humanname
152143958CV1651574insertionNM_015450.3(POT1):c.702+9_702+10insGTumor predisposition syndrome 3 [RCV002138532]likely benign7124858947124858948Human2name
155718549CV1827793deletionNM_015450.3(POT1):c.1595-4_1595-3delHereditary cancer-predisposing syndrome [RCV002398510]uncertain significance7124827308124827309Human1name
10408155CV205690single nucleotide variantNM_015450.3(POT1):c.283G>T (p.Gly95Cys)Hereditary cancer-predisposing syndrome [RCV004943767]|Tumor predisposition syndrome 3 [RCV000554275]risk factor|uncertain significance7124863613124863613Human3alternate_id
10408156CV205691single nucleotide variantNM_015450.3(POT1):c.1348G>T (p.Glu450Ter)Tumor predisposition syndrome 3 [RCV003329256]pathogenic|risk factor7124840994124840994Human2alternate_id
10408157CV205692deletionNM_015450.3(POT1):c.1851_1852del (p.Asp617fs)Hereditary cancer-predisposing syndrome [RCV001013390]|Tumor predisposition syndrome 3 [RCV000535739]|not provided [RCV001753590]likely pathogenic|risk factor|uncertain significance7124824015124824016Human3alternate_id
401798178CV2741298deletionNM_015450.3(POT1):c.255+48_255+49delnot specified [RCV003322461]likely benign7124870862124870863Humanname
405248970CV2971724deletionNM_015450.3(POT1):c.124+18_124+19delTumor predisposition syndrome 3 [RCV003746944]likely benign7124892247124892248Human2name
407481862CV3415237deletionNM_015450.3(POT1):c.256-37_256-34delnot specified [RCV004595952]likely benign7124863674124863677Humanname
597662871CV3580886deletionNM_015450.3(POT1):c.1687-5_1687-3delHereditary cancer-predisposing syndrome [RCV004946571]|Tumor predisposition syndrome 3 [RCV005107740]likely benign|uncertain significance7124825360124825362Human3name
12844797CV368885single nucleotide variantNM_015450.3(POT1):c.107A>G (p.Tyr36Cys)Hereditary cancer-predisposing syndrome [RCV002418338]|Tumor predisposition syndrome 3 [RCV000811957]|not provided [RCV000438630]uncertain significance7124892283124892283Human3alternate_id
597868411CV3787355deletionNM_015450.3(POT1):c.1369+1_1369+7delTumor predisposition syndrome 3 [RCV005122240]likely pathogenic7124840966124840972Human2name
12895188CV406962deletionNM_015450.3(POT1):c.147del (p.Ile49fs)Hereditary cancer-predisposing syndrome [RCV001011800]|Long telomere syndrome [RCV003329289]|Tumor predisposition syndrome 3 [RCV000692016]|not provided [RCV000485545]pathogenic|likely pathogenic|uncertain significance7124871019124871019Human3alternate_id
13216556CV428666single nucleotide variantNM_015450.3(POT1):c.1481T>C (p.Ile494Thr)Hereditary cancer-predisposing syndrome [RCV002395214]|Tumor predisposition syndrome 3 [RCV003746531]|not specified [RCV000503909]uncertain significance7124835303124835303Human3alternate_id
13215160CV428667single nucleotide variantNM_015450.3(POT1):c.1228G>C (p.Asp410His)Hereditary cancer-predisposing syndrome [RCV001010443]|Tumor predisposition syndrome 3 [RCV000527945]|not specified [RCV000502135]benign|likely benign|conflicting interpretations of pathogenicity7124841114124841114Human8alternate_id
13215160CV428667single nucleotide variantNM_015450.3(POT1):c.1228G>C (p.Asp410His)Hereditary cancer-predisposing syndrome [RCV001010443]|Tumor predisposition syndrome 3 [RCV000527945]|not specified [RCV000502135]benign|likely benign|conflicting interpretations of pathogenicity7124841114124841115Human8alternate_id
13214462CV428669single nucleotide variantNM_015450.3(POT1):c.1081C>T (p.Arg361Cys)Hereditary cancer-predisposing syndrome [RCV002257774]|Tumor predisposition syndrome 3 [RCV001220273]|not provided [RCV004760540]|not specified [RCV000501296]uncertain significance7124842889124842889Human3alternate_id
13213802CV428670single nucleotide variantNM_015450.3(POT1):c.437C>T (p.Pro146Leu)Dyskeratosis congenita [RCV003991536]|Hereditary cancer-predisposing syndrome [RCV001022389]|Tumor predisposition syndrome 3 [RCV001366259]|not specified [RCV000500462]uncertain significance7124863459124863459Human4alternate_id
13215223CV428671single nucleotide variantNM_015450.3(POT1):c.314C>T (p.Thr105Met)Hereditary cancer-predisposing syndrome [RCV001018815]|Tumor predisposition syndrome 3 [RCV000544765]|not provided [RCV002464228]|not specified [RCV000502240]uncertain significance7124863582124863582Human3alternate_id
13216700CV428672single nucleotide variantNM_015450.3(POT1):c.64A>G (p.Ile22Val)Hereditary cancer-predisposing syndrome [RCV000573872]|Tumor predisposition syndrome 3 [RCV000541787]|Tumor predisposition syndrome 3 [RCV005398721]|not provided [RCV001548286]|not specified [RCV000504020]likely benign|uncertain significance7124892326124892326Human5alternate_id
13473113CV444050single nucleotide variantNM_015450.3(POT1):c.1810G>A (p.Glu604Lys)Hereditary cancer-predisposing syndrome [RCV001013210]|Tumor predisposition syndrome 3 [RCV000652225]|not provided [RCV000519301]|not specified [RCV005231000]uncertain significance7124824057124824057Human3alternate_id
13497305CV456118single nucleotide variantNM_015450.3(POT1):c.1746T>C (p.Ser582=)Hereditary cancer-predisposing syndrome [RCV002404557]|Tumor predisposition syndrome 3 [RCV000538484]likely benign7124825298124825298Human3alternate_id
13482324CV456127single nucleotide variantNM_015450.3(POT1):c.1614C>T (p.Leu538=)Hereditary cancer-predisposing syndrome [RCV001012425]|Tumor predisposition syndrome 3 [RCV000551813]likely benign7124827286124827286Human3alternate_id
13465516CV456128single nucleotide variantNM_015450.3(POT1):c.1555G>A (p.Val519Ile)Hereditary cancer-predisposing syndrome [RCV001012098]|Tumor predisposition syndrome 3 [RCV000542878]|not provided [RCV002264956]|not specified [RCV001821626]uncertain significance7124829293124829293Human3alternate_id
13495387CV456131single nucleotide variantNM_015450.3(POT1):c.1534A>G (p.Ile512Val)Hereditary cancer-predisposing syndrome [RCV002395473]|Tumor predisposition syndrome 3 [RCV000537099]|not provided [RCV004772993]|not specified [RCV003493642]uncertain significance7124829314124829314Human3alternate_id
13494825CV456132single nucleotide variantNM_015450.3(POT1):c.1481T>A (p.Ile494Lys)Hereditary cancer-predisposing syndrome [RCV001011806]|Long telomere syndrome [RCV004561630]|Tumor predisposition syndrome 3 [RCV000559195]likely pathogenic|uncertain significance7124835303124835303Human3alternate_id
13482570CV456134single nucleotide variantNM_015450.3(POT1):c.1416T>G (p.Ser472Arg)Hereditary cancer-predisposing syndrome [RCV001011466]|Tumor predisposition syndrome 3 [RCV000529475]|Tumor predisposition syndrome 3 [RCV005034116]|not provided [RCV001584338]|not specified [RCV001821625]uncertain significance7124835368124835368Human5alternate_id
13494815CV456137single nucleotide variantNM_015450.3(POT1):c.1185C>T (p.Gly395=)Hereditary cancer-predisposing syndrome [RCV001010211]|Tumor predisposition syndrome 3 [RCV000536674]|not provided [RCV001764619]likely benign|uncertain significance7124841157124841157Human3alternate_id
13495531CV456144single nucleotide variantNM_015450.3(POT1):c.1156C>A (p.His386Asn)Hereditary cancer-predisposing syndrome [RCV002367949]|Tumor predisposition syndrome 3 [RCV000559700]|not provided [RCV001770478]uncertain significance7124842814124842814Human3alternate_id
13487247CV456149single nucleotide variantNM_015450.3(POT1):c.986G>A (p.Cys329Tyr)Hereditary cancer-predisposing syndrome [RCV003302884]|Tumor predisposition syndrome 3 [RCV000531708]|not provided [RCV003227789]uncertain significance7124846962124846962Human3alternate_id
13466227CV456153single nucleotide variantNM_015450.3(POT1):c.801A>G (p.Gly267=)Hereditary cancer-predisposing syndrome [RCV002420520]|Tumor predisposition syndrome 3 [RCV000543294]likely benign7124853040124853040Human3alternate_id
13494573CV456161single nucleotide variantNM_015450.3(POT1):c.753G>C (p.Met251Ile)Tumor predisposition syndrome 3 [RCV000559000]|not provided [RCV003105958]uncertain significance7124853088124853088Human2alternate_id
13471703CV456171single nucleotide variantNM_015450.3(POT1):c.639A>G (p.Leu213=)Hereditary cancer-predisposing syndrome [RCV000566245]|Tumor predisposition syndrome 3 [RCV000526898]likely benign7124859020124859020Human3alternate_id
13491349CV456176duplicationNM_015450.3(POT1):c.598_606dup (p.Asp200_Val202dup)Tumor predisposition syndrome 3 [RCV000534156]uncertain significance7124859052124859053Human2alternate_id
13478292CV456187single nucleotide variantNM_015450.3(POT1):c.577T>C (p.Ser193Pro)Hereditary cancer-predisposing syndrome [RCV002358606]|Tumor predisposition syndrome 3 [RCV000549999]uncertain significance7124859082124859082Human3alternate_id
13467401CV456188single nucleotide variantNM_015450.3(POT1):c.349C>T (p.Arg117Cys)Hereditary cancer-predisposing syndrome [RCV002456249]|Tumor predisposition syndrome 3 [RCV000543907]|not provided [RCV001755900]pathogenic|likely pathogenic|uncertain significance7124863547124863547Human3alternate_id
13489054CV456194single nucleotide variantNM_015450.3(POT1):c.286A>G (p.Ile96Val)Tumor predisposition syndrome 3 [RCV000532714]uncertain significance7124863610124863610Human2alternate_id
13469346CV456197single nucleotide variantNM_015450.3(POT1):c.183C>T (p.Leu61=)Hereditary cancer-predisposing syndrome [RCV002413629]|Tumor predisposition syndrome 3 [RCV001404143]likely benign7124870983124870983Human3alternate_id
13490429CV456205single nucleotide variantNM_015450.3(POT1):c.73G>A (p.Val25Ile)Hereditary cancer-predisposing syndrome [RCV001026393]|Tumor predisposition syndrome 3 [RCV000555964]|not provided [RCV001538524]|not specified [RCV005231069]likely benign|uncertain significance7124892317124892317Human3alternate_id
13470343CV456387single nucleotide variantNM_015450.3(POT1):c.1870A>G (p.Ile624Val)Hereditary cancer-predisposing syndrome [RCV001013412]|Tumor predisposition syndrome 3 [RCV000546080]|not provided [RCV001764620]uncertain significance7124823997124823997Human3alternate_id
13474310CV456389single nucleotide variantNM_015450.3(POT1):c.1568C>G (p.Ser523Trp)Hereditary cancer-predisposing syndrome [RCV001012172]|Tumor predisposition syndrome 3 [RCV000548192]uncertain significance7124829280124829280Human3alternate_id
13475203CV456393single nucleotide variantNM_015450.3(POT1):c.1260T>C (p.Asp420=)Hereditary cancer-predisposing syndrome [RCV001010599]|Tumor predisposition syndrome 3 [RCV000548606]likely benign7124841082124841082Human3alternate_id
13475230CV456397single nucleotide variantNM_015450.3(POT1):c.1227A>C (p.Pro409=)Hereditary cancer-predisposing syndrome [RCV000573376]|Tumor predisposition syndrome 3 [RCV000550087]benign|likely benign7124841115124841115Human3alternate_id
13490747CV456409deletionNM_015450.3(POT1):c.1147_1151del (p.Pro383fs)Tumor predisposition syndrome 3 [RCV000556200]pathogenic|uncertain significance7124842819124842823Human2alternate_id
13483666CV456414single nucleotide variantNM_015450.3(POT1):c.1147C>A (p.Pro383Thr)Tumor predisposition syndrome 3 [RCV000529972]uncertain significance7124842823124842823Human2alternate_id
13489329CV456418single nucleotide variantNM_015450.3(POT1):c.1078T>C (p.Tyr360His)Hereditary cancer-predisposing syndrome [RCV001009865]|Tumor predisposition syndrome 3 [RCV000555287]uncertain significance7124842892124842892Human3alternate_id
13475094CV456420single nucleotide variantNM_015450.3(POT1):c.1050C>T (p.Ala350=)Hereditary cancer-predisposing syndrome [RCV001017133]|Tumor predisposition syndrome 3 [RCV000526124]|not specified [RCV001821621]likely benign7124842920124842920Human3alternate_id
13491664CV456422deletionNM_015450.3(POT1):c.1006+9_1006+10delTumor predisposition syndrome 3 [RCV000534394]likely benign7124846932124846933Human2name , alternate_id
13494957CV456433single nucleotide variantNM_015450.3(POT1):c.879A>G (p.Glu293=)Hereditary cancer-predisposing syndrome [RCV002377165]|Tumor predisposition syndrome 3 [RCV000536786]|not specified [RCV000616213]likely benign7124851942124851942Human3alternate_id
13493894CV456442single nucleotide variantNM_015450.3(POT1):c.818G>A (p.Arg273Gln)Hereditary cancer-predisposing syndrome [RCV001027258]|Long telomere syndrome [RCV003329306]|Tumor predisposition syndrome 3 [RCV000535998]|not provided [RCV003156259]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records7124853023124853023Human3alternate_id
13483467CV456444single nucleotide variantNM_015450.3(POT1):c.750A>C (p.Ser250=)Hereditary cancer-predisposing syndrome [RCV004024305]|Tumor predisposition syndrome 3 [RCV001435862]likely benign7124853091124853091Human3alternate_id
13485525CV456446single nucleotide variantNM_015450.3(POT1):c.716T>G (p.Leu239Arg)Tumor predisposition syndrome 3 [RCV000530804]uncertain significance7124853125124853125Human2alternate_id
13474958CV456448single nucleotide variantNM_015450.3(POT1):c.636G>C (p.Arg212=)Hereditary cancer-predisposing syndrome [RCV002367950]|Tumor predisposition syndrome 3 [RCV001489208]likely benign7124859023124859023Human3alternate_id
13471599CV456449single nucleotide variantNM_015450.3(POT1):c.512A>G (p.Lys171Arg)Hereditary cancer-predisposing syndrome [RCV001023587]|Tumor predisposition syndrome 3 [RCV000546938]|not provided [RCV003148788]uncertain significance7124863384124863384Human3alternate_id
13473045CV456457single nucleotide variantNM_015450.3(POT1):c.233T>C (p.Ile78Thr)Hereditary cancer-predisposing syndrome [RCV001015233]|Long telomere syndrome [RCV003329305]|Melanoma, cutaneous malignant, susceptibility to, 1 [RCV001535605]|Tumor predisposition syndrome 3 [RCV000547634]|not provided [RCV001755899]|not specified [RCV001821629]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided7124870933124870933Human7alternate_id
13496465CV456467single nucleotide variantNM_015450.3(POT1):c.224A>G (p.Asn75Ser)Hereditary cancer-predisposing syndrome [RCV001014921]|Tumor predisposition syndrome 3 [RCV000537871]|not provided [RCV001770479]uncertain significance7124870942124870942Human3alternate_id
13491448CV456474single nucleotide variantNM_015450.3(POT1):c.197A>G (p.Tyr66Cys)Hereditary cancer-predisposing syndrome [RCV002420519]|Tumor predisposition syndrome 3 [RCV000534227]uncertain significance7124870969124870969Human3alternate_id
13477074CV456685single nucleotide variantNM_015450.3(POT1):c.1884A>C (p.Thr628=)Hereditary cancer-predisposing syndrome [RCV000568813]|Tumor predisposition syndrome 3 [RCV000560889]|Tumor predisposition syndrome 3 [RCV005398861]|not provided [RCV004712885]|not specified [RCV000609255]benign7124823983124823983Human5alternate_id
13476856CV456687single nucleotide variantNM_015450.3(POT1):c.1841A>G (p.Asn614Ser)Hereditary cancer-predisposing syndrome [RCV000565348]|Tumor predisposition syndrome 3 [RCV000560025]|Tumor predisposition syndrome 3 [RCV005034117]|not provided [RCV001755898]likely benign|uncertain significance7124824026124824026Human5alternate_id
13484411CV456689single nucleotide variantNM_015450.3(POT1):c.1834G>A (p.Val612Ile)Hereditary cancer-predisposing syndrome [RCV001013327]|Tumor predisposition syndrome 3 [RCV000530320]|not provided [RCV004767383]uncertain significance7124824033124824033Human3alternate_id
13482493CV456691single nucleotide variantNM_015450.3(POT1):c.1832A>G (p.Asn611Ser)Hereditary cancer-predisposing syndrome [RCV001013321]|Tumor predisposition syndrome 3 [RCV000551880]|not provided [RCV005000202]|not specified [RCV002469199]uncertain significance7124824035124824035Human3alternate_id
13472838CV456700single nucleotide variantNM_015450.3(POT1):c.1685C>T (p.Ser562Phe)Tumor predisposition syndrome 3 [RCV000525105]uncertain significance7124827215124827215Human2alternate_id
13476129CV456701single nucleotide variantNM_015450.3(POT1):c.1569G>A (p.Ser523=)Hereditary cancer-predisposing syndrome [RCV002404555]|Tumor predisposition syndrome 3 [RCV001089448]|not provided [RCV000830865]likely benign|uncertain significance7124829279124829279Human3alternate_id
13492795CV456703single nucleotide variantNM_015450.3(POT1):c.1562A>G (p.Lys521Arg)Hereditary cancer-predisposing syndrome [RCV002404553]|Tumor predisposition syndrome 3 [RCV000557709]|not provided [RCV004767382]uncertain significance7124829286124829286Human3alternate_id
13468210CV456705deletionNM_015450.3(POT1):c.1474_1491del (p.Phe492_Thr497del)Tumor predisposition syndrome 3 [RCV000544377]uncertain significance7124835293124835310Human2alternate_id
13496100CV456708single nucleotide variantNM_015450.3(POT1):c.1401G>A (p.Ser467=)Hereditary cancer-predisposing syndrome [RCV001011340]|Tumor predisposition syndrome 3 [RCV000560124]|not specified [RCV000613878]likely benign7124835383124835383Human3alternate_id
13492961CV456711single nucleotide variantNM_015450.3(POT1):c.1214C>T (p.Ala405Val)Hereditary cancer-predisposing syndrome [RCV002358604]|Tumor predisposition syndrome 3 [RCV000535328]|not provided [RCV003332198]uncertain significance7124841128124841128Human3alternate_id
13475459CV456715single nucleotide variantNM_015450.3(POT1):c.1211G>T (p.Gly404Val)Hereditary cancer-predisposing syndrome [RCV000571239]|Tumor predisposition syndrome 3 [RCV000551136]|not provided [RCV003736812]|not specified [RCV000605208]benign7124841131124841131Human3alternate_id
13500644CV456723single nucleotide variantNM_015450.3(POT1):c.1077A>G (p.Gln359=)Hereditary cancer-predisposing syndrome [RCV001009856]|Tumor predisposition syndrome 3 [RCV000540548]|not provided [RCV003884635]benign|likely benign7124842893124842893Human3alternate_id
13475102CV456725single nucleotide variantNM_015450.3(POT1):c.1022A>G (p.Gln341Arg)Hereditary cancer-predisposing syndrome [RCV000572211]|Tumor predisposition syndrome 3 [RCV000549220]|not provided [RCV001662598]|not specified [RCV001821620]benign|likely benign7124842948124842948Human3alternate_id
13478614CV456733single nucleotide variantNM_015450.3(POT1):c.675C>A (p.Asn225Lys)Hereditary cancer-predisposing syndrome [RCV002367951]|Tumor predisposition syndrome 3 [RCV000527703]|not provided [RCV001653920]uncertain significance7124858984124858984Human3alternate_id
13487888CV456735single nucleotide variantNM_015450.3(POT1):c.448T>C (p.Leu150=)Hereditary cancer-predisposing syndrome [RCV002330967]|Tumor predisposition syndrome 3 [RCV000532062]likely benign7124863448124863448Human3alternate_id
13493387CV456739single nucleotide variantNM_015450.3(POT1):c.447A>G (p.Thr149=)Hereditary cancer-predisposing syndrome [RCV002330966]|Tumor predisposition syndrome 3 [RCV001490919]likely benign7124863449124863449Human3alternate_id
13490490CV456740single nucleotide variantNM_015450.3(POT1):c.347C>T (p.Pro116Leu)Hereditary cancer-predisposing syndrome [RCV002456248]|See cases [RCV003985380]|Tumor predisposition syndrome 3 [RCV000533554]likely pathogenic|uncertain significance7124863549124863549Human3alternate_id
13488990CV456742single nucleotide variantNM_015450.3(POT1):c.338C>T (p.Pro113Leu)Tumor predisposition syndrome 3 [RCV000555114]uncertain significance7124863558124863558Human2alternate_id
13501316CV456750single nucleotide variantNM_015450.3(POT1):c.240C>T (p.Arg80=)Tumor predisposition syndrome 3 [RCV000540937]likely benign7124870926124870926Human2alternate_id
13474979CV456752single nucleotide variantNM_015450.3(POT1):c.239G>A (p.Arg80His)Hereditary cancer-predisposing syndrome [RCV001015408]|Tumor predisposition syndrome 3 [RCV000526075]|not provided [RCV001764621]uncertain significance7124870927124870927Human3alternate_id
13489508CV456755single nucleotide variantNM_015450.3(POT1):c.77A>G (p.Tyr26Cys)Hereditary cancer-predisposing syndrome [RCV002413630]|Tumor predisposition syndrome 3 [RCV000532949]|not specified [RCV003493643]uncertain significance7124892313124892313Human3alternate_id
13496499CV456815deletionNC_000007.14:g.(?_124870905)_(124897179_?)delTumor predisposition syndrome 3 [RCV000560390]uncertain significance7124870905124897179Human2alternate_id
13471212CV457035single nucleotide variantNM_015450.3(POT1):c.1803G>A (p.Pro601=)Hereditary cancer-predisposing syndrome [RCV001013239]|Tumor predisposition syndrome 3 [RCV001083140]|not provided [RCV000827260]likely benign7124824064124824064Human3alternate_id
13487479CV457037single nucleotide variantNM_015450.3(POT1):c.1797A>G (p.Ala599=)Hereditary cancer-predisposing syndrome [RCV001013126]|Tumor predisposition syndrome 3 [RCV000531830]|not provided [RCV001560997]likely benign7124824070124824070Human3alternate_id
13485829CV457039single nucleotide variantNM_015450.3(POT1):c.1756A>G (p.Ile586Val)Hereditary cancer-predisposing syndrome [RCV002413628]|Tumor predisposition syndrome 3 [RCV000553402]uncertain significance7124825288124825288Human3alternate_id
13494117CV457047single nucleotide variantNM_015450.3(POT1):c.1566A>G (p.Thr522=)Hereditary cancer-predisposing syndrome [RCV002404554]|Tumor predisposition syndrome 3 [RCV000536157]|not specified [RCV001821627]likely benign7124829282124829282Human3alternate_id
13475885CV457068single nucleotide variantNM_015450.3(POT1):c.1338G>A (p.Pro446=)Hereditary cancer-predisposing syndrome [RCV000572351]|Tumor predisposition syndrome 3 [RCV000554053]|Tumor predisposition syndrome 3 [RCV005398860]|not specified [RCV002476195]benign|likely benign7124841004124841004Human5alternate_id
13498344CV457074single nucleotide variantNM_015450.3(POT1):c.1287A>C (p.Gln429His)Hereditary cancer-predisposing syndrome [RCV002384245]|Tumor predisposition syndrome 3 [RCV000539166]|not provided [RCV004760592]likely benign|uncertain significance7124841055124841055Human3alternate_id
13469164CV457079single nucleotide variantNM_015450.3(POT1):c.1127A>G (p.Gln376Arg)Diffuse midline glioma, H3 K27-altered [RCV003315245]|Hereditary cancer-predisposing syndrome [RCV000562627]|Tumor predisposition syndrome 3 [RCV000539501]|not provided [RCV001358388]|not specified [RCV001821622]likely benign|conflicting interpretations of pathogenicity|uncertain significance7124842843124842843Human3alternate_id
13473504CV457088single nucleotide variantNM_015450.3(POT1):c.1035G>A (p.Arg345=)Hereditary cancer-predisposing syndrome [RCV002395472]|Tumor predisposition syndrome 3 [RCV000547828]likely benign7124842935124842935Human3alternate_id
13502426CV457091single nucleotide variantNM_015450.3(POT1):c.994C>T (p.Leu332=)Hereditary cancer-predisposing syndrome [RCV001019940]|Tumor predisposition syndrome 3 [RCV000541996]|not specified [RCV002268165]likely benign7124846954124846954Human3alternate_id
13473503CV457099single nucleotide variantNM_015450.3(POT1):c.924A>G (p.Gln308=)Hereditary cancer-predisposing syndrome [RCV000566783]|Tumor predisposition syndrome 3 [RCV000538923]|Tumor predisposition syndrome 3 [RCV005398864]|not provided [RCV004712886]|not specified [RCV000608970]benign7124851897124851897Human5alternate_id
13480632CV457101single nucleotide variantNM_015450.3(POT1):c.916A>T (p.Ile306Phe)Tumor predisposition syndrome 3 [RCV000528611]uncertain significance7124851905124851905Human2alternate_id
13482005CV457108single nucleotide variantNM_015450.3(POT1):c.889T>G (p.Leu297Val)Hereditary cancer-predisposing syndrome [RCV001018462]|Tumor predisposition syndrome 3 [RCV000551674]uncertain significance7124851932124851932Human3alternate_id
13476323CV457110single nucleotide variantNM_015450.3(POT1):c.846C>T (p.Asn282=)Hereditary cancer-predisposing syndrome [RCV000566939]|Tumor predisposition syndrome 3 [RCV000556618]|not provided [RCV001696957]|not specified [RCV001821630]benign|likely benign7124852995124852995Human3alternate_id
13484894CV457118single nucleotide variantNM_015450.3(POT1):c.709A>C (p.Ser237Arg)Tumor predisposition syndrome 3 [RCV000552972]uncertain significance7124853132124853132Human2alternate_id
13465079CV457119indelNM_015450.3(POT1):c.702+8_702+9delinsTGBreast carcinoma [RCV001262967]|Tumor predisposition syndrome 3 [RCV000542608]benign|likely benign7124858948124858949Humanname , alternate_id
13496289CV457120single nucleotide variantNM_015450.3(POT1):c.592A>C (p.Ile198Leu)Hereditary cancer-predisposing syndrome [RCV003302883]|Tumor predisposition syndrome 3 [RCV000560251]|not provided [RCV003126818]uncertain significance7124859067124859067Human3alternate_id
13492659CV457122single nucleotide variantNM_015450.3(POT1):c.576A>G (p.Pro192=)Familial melanoma [RCV005367403]|Hereditary cancer-predisposing syndrome [RCV002358605]|Tumor predisposition syndrome 3 [RCV000535117]likely benign7124859083124859083Human3alternate_id
13492148CV457127single nucleotide variantNM_015450.3(POT1):c.563G>C (p.Arg188Thr)Hereditary cancer-predisposing syndrome [RCV002350383]|Tumor predisposition syndrome 3 [RCV000557222]uncertain significance7124859096124859096Human3alternate_id
13498726CV457128single nucleotide variantNM_015450.3(POT1):c.272A>C (p.Lys91Thr)Tumor predisposition syndrome 3 [RCV000539391]uncertain significance7124863624124863624Human2alternate_id
13471721CV457135single nucleotide variantNM_015450.3(POT1):c.268A>G (p.Lys90Glu)Hereditary cancer-predisposing syndrome [RCV004649206]|Tumor predisposition syndrome 3 [RCV000524553]likely pathogenic|uncertain significance7124863628124863628Human3alternate_id
13471822CV457143single nucleotide variantNM_015450.3(POT1):c.211A>G (p.Ile71Val)Hereditary cancer-predisposing syndrome [RCV000565840]|Tumor predisposition syndrome 3 [RCV000527546]likely benign|uncertain significance7124870955124870955Human3alternate_id
13476418CV457146single nucleotide variantNM_015450.3(POT1):c.205C>T (p.Leu69Phe)Hereditary cancer-predisposing syndrome [RCV003159929]|Tumor predisposition syndrome 3 [RCV000549161]uncertain significance7124870961124870961Human3alternate_id
13481183CV457149single nucleotide variantNM_015450.3(POT1):c.126T>G (p.Asp42Glu)Hereditary cancer-predisposing syndrome [RCV002448787]|Tumor predisposition syndrome 3 [RCV000528860]pathogenic|likely pathogenic|uncertain significance7124871040124871040Human3alternate_id
13469159CV457155single nucleotide variantNM_015450.3(POT1):c.114C>G (p.Ser38Arg)Hereditary cancer-predisposing syndrome [RCV001017481]|Tumor predisposition syndrome 3 [RCV000545016]uncertain significance7124892276124892276Human3alternate_id
13471020CV474473single nucleotide variantNM_015450.3(POT1):c.1606G>A (p.Val536Ile)Hereditary cancer-predisposing syndrome [RCV000563589]|Tumor predisposition syndrome 3 [RCV000797044]uncertain significance7124827294124827294Human3alternate_id
13502981CV474477single nucleotide variantNM_015450.3(POT1):c.1030G>A (p.Glu344Lys)Hereditary cancer-predisposing syndrome [RCV000576006]|Tumor predisposition syndrome 3 [RCV001229099]uncertain significance7124842940124842940Human3alternate_id
13481100CV474483single nucleotide variantNM_015450.3(POT1):c.1814G>C (p.Cys605Ser)Hereditary cancer-predisposing syndrome [RCV000566631]|Tumor predisposition syndrome 3 [RCV000652211]|Tumor predisposition syndrome 3 [RCV005398919]|not provided [RCV004592775]likely benign|uncertain significance7124824053124824053Human5alternate_id
13502296CV474485single nucleotide variantNM_015450.3(POT1):c.1742A>G (p.Lys581Arg)Hereditary cancer-predisposing syndrome [RCV000575013]|Tumor predisposition syndrome 3 [RCV000705744]|not provided [RCV005000320]uncertain significance7124825302124825302Human3alternate_id
13479046CV474487single nucleotide variantNM_015450.3(POT1):c.1359T>C (p.Leu453=)Hereditary cancer-predisposing syndrome [RCV000566010]|Tumor predisposition syndrome 3 [RCV000875308]likely benign7124840983124840983Human3alternate_id
13467250CV474488single nucleotide variantNM_015450.3(POT1):c.973G>A (p.Glu325Lys)Hereditary cancer-predisposing syndrome [RCV000561935]|Tumor predisposition syndrome 3 [RCV001233418]likely benign|uncertain significance7124846975124846975Human3alternate_id
13478544CV474492single nucleotide variantNM_015450.3(POT1):c.703G>A (p.Val235Ile)Hereditary cancer-predisposing syndrome [RCV000565856]|Tumor predisposition syndrome 3 [RCV000652201]|not provided [RCV002275059]likely benign|uncertain significance7124853138124853138Human3alternate_id
13466075CV474496single nucleotide variantNM_015450.3(POT1):c.1630A>G (p.Met544Val)Hereditary cancer-predisposing syndrome [RCV000561531]|Tumor predisposition syndrome 3 [RCV000687246]uncertain significance7124827270124827270Human3alternate_id
13490795CV474497single nucleotide variantNM_015450.3(POT1):c.495T>C (p.Thr165=)Hereditary cancer-predisposing syndrome [RCV000569788]|Tumor predisposition syndrome 3 [RCV001485613]likely benign7124863401124863401Human3alternate_id
13493266CV474498single nucleotide variantNM_015450.3(POT1):c.1594G>C (p.Ala532Pro)Hereditary cancer-predisposing syndrome [RCV000570928]|Tumor predisposition syndrome 3 [RCV001346858]uncertain significance7124829254124829254Human3alternate_id
13468818CV474502single nucleotide variantNM_015450.3(POT1):c.1441G>A (p.Glu481Lys)Hereditary cancer-predisposing syndrome [RCV000562465]|Tumor predisposition syndrome 3 [RCV000652213]|not provided [RCV001800793]uncertain significance7124835343124835343Human3alternate_id
13498217CV474505single nucleotide variantNM_015450.3(POT1):c.475A>G (p.Met159Val)Hereditary cancer-predisposing syndrome [RCV000573222]|Tumor predisposition syndrome 3 [RCV000652226]|not provided [RCV001823148]uncertain significance7124863421124863421Human3alternate_id
13490461CV474507single nucleotide variantNM_015450.3(POT1):c.255G>A (p.Lys85=)Hereditary cancer-predisposing syndrome [RCV000569645]|Tumor predisposition syndrome 3 [RCV000820144]pathogenic|uncertain significance7124870911124870911Human3alternate_id
13482380CV474508single nucleotide variantNM_015450.3(POT1):c.43A>C (p.Asn15His)Hereditary cancer-predisposing syndrome [RCV000567007]|Tumor predisposition syndrome 3 [RCV001062689]|not provided [RCV002469208]uncertain significance7124892347124892347Human3alternate_id
13502910CV474509single nucleotide variantNM_015450.3(POT1):c.841A>G (p.Ser281Gly)Hereditary cancer-predisposing syndrome [RCV000575867]|Tumor predisposition syndrome 3 [RCV001853792]|not provided [RCV005091439]uncertain significance7124853000124853000Human3alternate_id
13503477CV474596single nucleotide variantNM_015450.3(POT1):c.1559A>G (p.Asp520Gly)Glioma susceptibility 1 [RCV003483677]|Hereditary cancer-predisposing syndrome [RCV000561150]|Tumor predisposition syndrome 3 [RCV001219866]|not provided [RCV002461372]likely benign|uncertain significance|not provided7124829289124829289Human8alternate_id
13472958CV474598single nucleotide variantNM_015450.3(POT1):c.1551C>T (p.Ser517=)Hereditary cancer-predisposing syndrome [RCV000564214]|Tumor predisposition syndrome 3 [RCV005091438]likely benign7124829297124829297Human3alternate_id
13475513CV474602single nucleotide variantNM_015450.3(POT1):c.1532C>T (p.Ser511Phe)Hereditary cancer-predisposing syndrome [RCV000564958]|Tumor predisposition syndrome 3 [RCV002304215]uncertain significance7124829316124829316Human3alternate_id
13472188CV474603single nucleotide variantNM_015450.3(POT1):c.1186G>A (p.Asp396Asn)Hereditary cancer-predisposing syndrome [RCV000563999]|Tumor predisposition syndrome 3 [RCV000685095]|Tumor predisposition syndrome 3 [RCV005034141]|not provided [RCV001551887]likely benign|uncertain significance7124841156124841156Human5alternate_id
13495680CV474604single nucleotide variantNM_015450.3(POT1):c.1097T>C (p.Leu366Ser)Hereditary cancer-predisposing syndrome [RCV000572067]|Tumor predisposition syndrome 3 [RCV001226378]uncertain significance7124842873124842873Human3alternate_id
13482913CV474613single nucleotide variantNM_015450.3(POT1):c.526G>A (p.Gly176Arg)Hereditary cancer-predisposing syndrome [RCV000567167]|Tumor predisposition syndrome 3 [RCV000652204]|not provided [RCV001551221]|not specified [RCV001821690]likely benign|uncertain significance7124863370124863370Human3alternate_id
13502790CV474614single nucleotide variantNM_015450.3(POT1):c.315G>A (p.Thr105=)Hereditary cancer-predisposing syndrome [RCV000575650]|Tumor predisposition syndrome 3 [RCV000652249]|not specified [RCV003321683]likely benign7124863581124863581Human3alternate_id
13527453CV501793single nucleotide variantNM_015450.3(POT1):c.1096T>C (p.Leu366=)Hereditary cancer-predisposing syndrome [RCV003162739]|Tumor predisposition syndrome 3 [RCV000939119]|not specified [RCV000605185]likely benign7124842874124842874Human3alternate_id
13541129CV502187single nucleotide variantNM_015450.3(POT1):c.972C>T (p.Tyr324=)Hereditary cancer-predisposing syndrome [RCV001019685]|Tumor predisposition syndrome 3 [RCV000652236]|not provided [RCV001712676]likely benign7124846976124846976Human3alternate_id
13624381CV522092single nucleotide variantNM_015450.3(POT1):c.1819A>G (p.Ile607Val)Hereditary cancer-predisposing syndrome [RCV004025848]|Tumor predisposition syndrome 3 [RCV000652203]uncertain significance7124824048124824048Human3alternate_id
13624401CV522095microsatelliteNM_015450.3(POT1):c.1765_1766del (p.Met589fs)Hereditary cancer-predisposing syndrome [RCV002397311]|Tumor predisposition syndrome 3 [RCV000652228]uncertain significance7124825278124825279Humanalternate_id
13624474CV522105single nucleotide variantNM_015450.3(POT1):c.1233C>T (p.Val411=)Hereditary cancer-predisposing syndrome [RCV002360657]|Tumor predisposition syndrome 3 [RCV000652247]likely benign7124841109124841109Human3alternate_id
13624373CV522106single nucleotide variantNM_015450.3(POT1):c.1197A>G (p.Ile399Met)Hereditary cancer-predisposing syndrome [RCV003303076]|Tumor predisposition syndrome 3 [RCV000652194]uncertain significance7124841145124841145Human3alternate_id
13624455CV522116single nucleotide variantNM_015450.3(POT1):c.1014A>T (p.Thr338=)Hereditary cancer-predisposing syndrome [RCV004025851]|Tumor predisposition syndrome 3 [RCV000652244]likely benign7124842956124842956Human3alternate_id
13624425CV522118single nucleotide variantNM_015450.3(POT1):c.996A>G (p.Leu332=)Hereditary cancer-predisposing syndrome [RCV002386112]|Tumor predisposition syndrome 3 [RCV000652230]|not specified [RCV003321709]likely benign7124846952124846952Human3alternate_id
13624442CV522122single nucleotide variantNM_015450.3(POT1):c.966A>G (p.Ser322=)Hereditary cancer-predisposing syndrome [RCV002369755]|Tumor predisposition syndrome 3 [RCV000652232]likely benign7124846982124846982Human3alternate_id
13624376CV522124single nucleotide variantNM_015450.3(POT1):c.779G>A (p.Ser260Asn)Hereditary cancer-predisposing syndrome [RCV002406467]|Tumor predisposition syndrome 3 [RCV000652197]likely benign|uncertain significance7124853062124853062Human3alternate_id
13624441CV522126single nucleotide variantNM_015450.3(POT1):c.618T>C (p.Asp206=)Hereditary cancer-predisposing syndrome [RCV002358887]|Tumor predisposition syndrome 3 [RCV000652231]likely benign7124859041124859041Human3alternate_id
13624386CV522131single nucleotide variantNM_015450.3(POT1):c.425C>T (p.Thr142Ile)Tumor predisposition syndrome 3 [RCV000652209]uncertain significance7124863471124863471Human2alternate_id
13624400CV522132single nucleotide variantNM_015450.3(POT1):c.418G>A (p.Ala140Thr)Tumor predisposition syndrome 3 [RCV000652227]uncertain significance7124863478124863478Human2alternate_id
13624475CV522148single nucleotide variantNM_015450.3(POT1):c.264A>G (p.Val88=)Hereditary cancer-predisposing syndrome [RCV002458146]|Tumor predisposition syndrome 3 [RCV000652250]|not provided [RCV001538308]likely benign7124863632124863632Human3alternate_id
13624382CV522149single nucleotide variantNM_015450.3(POT1):c.238C>T (p.Arg80Cys)Hereditary cancer-predisposing syndrome [RCV001015372]|Tumor predisposition syndrome 3 [RCV000652205]|not provided [RCV002225704]uncertain significance7124870928124870928Human3alternate_id
13624392CV522154duplicationNM_015450.3(POT1):c.161dup (p.Asn54fs)Tumor predisposition syndrome 3 [RCV000652217]|not provided [RCV002263910]pathogenic|likely pathogenic|uncertain significance7124871004124871005Human2alternate_id
13624374CV522362single nucleotide variantNM_015450.3(POT1):c.1802C>T (p.Pro601Leu)Hereditary cancer-predisposing syndrome [RCV001013235]|Tumor predisposition syndrome 3 [RCV000652195]uncertain significance7124824065124824065Human3alternate_id
13624389CV522368single nucleotide variantNM_015450.3(POT1):c.1183G>A (p.Gly395Ser)Hereditary cancer-predisposing syndrome [RCV001010080]|Tumor predisposition syndrome 3 [RCV000652214]|not provided [RCV003237976]|not specified [RCV002268237]likely benign|uncertain significance7124841159124841159Human3alternate_id
13624450CV522371single nucleotide variantNM_015450.3(POT1):c.1104A>G (p.Ser368=)Hereditary cancer-predisposing syndrome [RCV003163001]|Tumor predisposition syndrome 3 [RCV000652242]likely benign7124842866124842866Human3alternate_id
13624445CV522372single nucleotide variantNM_015450.3(POT1):c.942C>T (p.Ser314=)Tumor predisposition syndrome 3 [RCV000652235]likely benign7124851879124851879Human2alternate_id
13624399CV522378single nucleotide variantNM_015450.3(POT1):c.817C>T (p.Arg273Trp)Hereditary cancer-predisposing syndrome [RCV002424532]|Tumor predisposition syndrome 3 [RCV000652224]uncertain significance7124853024124853024Human3alternate_id
13624451CV522387single nucleotide variantNM_015450.3(POT1):c.630C>T (p.Ile210=)Hereditary cancer-predisposing syndrome [RCV002360656]|Tumor predisposition syndrome 3 [RCV000652243]likely benign7124859029124859029Human3alternate_id
13624377CV522389single nucleotide variantNM_015450.3(POT1):c.343A>C (p.Ile115Leu)Hereditary cancer-predisposing syndrome [RCV001020309]|Tumor predisposition syndrome 3 [RCV000652198]uncertain significance7124863553124863553Human3alternate_id
13624486CV522390single nucleotide variantNM_015450.3(POT1):c.246C>T (p.His82=)Tumor predisposition syndrome 3 [RCV000652253]likely benign7124870920124870920Human2alternate_id
13624473CV522391single nucleotide variantNM_015450.3(POT1):c.234T>A (p.Ile78=)Hereditary cancer-predisposing syndrome [RCV002442353]|Tumor predisposition syndrome 3 [RCV000652246]likely benign7124870932124870932Human3alternate_id
13624444CV522458single nucleotide variantNM_015450.3(POT1):c.1284T>C (p.Asn428=)Hereditary cancer-predisposing syndrome [RCV002257915]|Tumor predisposition syndrome 3 [RCV000652234]likely benign7124841058124841058Human3alternate_id
13624472CV522460single nucleotide variantNM_015450.3(POT1):c.1251A>G (p.Ser417=)Hereditary cancer-predisposing syndrome [RCV002406470]|Tumor predisposition syndrome 3 [RCV000652245]likely benign7124841091124841091Human3alternate_id
13624383CV522463duplicationNM_015450.3(POT1):c.1071dup (p.Gln358fs)Hereditary cancer-predisposing syndrome [RCV001017208]|Long telomere syndrome [RCV004563559]|Tumor predisposition syndrome 3 [RCV000652206]|not provided [RCV000657444]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance7124842898124842899Human3alternate_id
13624397CV522468single nucleotide variantNM_015450.3(POT1):c.913G>A (p.Val305Ile)Hereditary cancer-predisposing syndrome [RCV001018913]|Tumor predisposition syndrome 3 [RCV000652222]uncertain significance7124851908124851908Human3alternate_id
13624394CV522471single nucleotide variantNM_015450.3(POT1):c.798T>A (p.His266Gln)Tumor predisposition syndrome 3 [RCV000652219]uncertain significance7124853043124853043Human2alternate_id
13624398CV522472single nucleotide variantNM_015450.3(POT1):c.763A>C (p.Asn255His)Hereditary cancer-predisposing syndrome [RCV001026651]|Tumor predisposition syndrome 3 [RCV000652223]|not provided [RCV001756099]likely benign|uncertain significance7124853078124853078Human3alternate_id
13624379CV522476single nucleotide variantNM_015450.3(POT1):c.747A>G (p.Gln249=)Hereditary cancer-predisposing syndrome [RCV001026482]|Tumor predisposition syndrome 3 [RCV000652200]|not provided [RCV000826706]|not specified [RCV001816634]likely benign|conflicting interpretations of pathogenicity|uncertain significance7124853094124853094Human3alternate_id
13624443CV522478single nucleotide variantNM_015450.3(POT1):c.697C>T (p.Leu233=)Hereditary cancer-predisposing syndrome [RCV004025850]|Tumor predisposition syndrome 3 [RCV000652233]likely benign7124858962124858962Human3alternate_id
13624390CV522490single nucleotide variantNM_015450.3(POT1):c.653T>C (p.Ile218Thr)Hereditary cancer-predisposing syndrome [RCV002360655]|Tumor predisposition syndrome 3 [RCV000652215]|not provided [RCV004768512]uncertain significance7124859006124859006Human3alternate_id
13624388CV522493single nucleotide variantNM_015450.3(POT1):c.623G>A (p.Ser208Asn)Hereditary cancer-predisposing syndrome [RCV001025034]|Tumor predisposition syndrome 3 [RCV000652212]|not provided [RCV003159149]uncertain significance7124859036124859036Human3alternate_id
13624391CV522499single nucleotide variantNM_015450.3(POT1):c.131G>A (p.Cys44Tyr)Hereditary cancer-predisposing syndrome [RCV004025849]|Tumor predisposition syndrome 3 [RCV000652216]uncertain significance7124871035124871035Human3alternate_id
13624421CV522814single nucleotide variantNM_015450.3(POT1):c.1871T>C (p.Ile624Thr)Tumor predisposition syndrome 3 [RCV000652199]uncertain significance7124823996124823996Human2alternate_id
13624396CV522818single nucleotide variantNM_015450.3(POT1):c.1864T>C (p.Tyr622His)Hereditary cancer-predisposing syndrome [RCV002406468]|Tumor predisposition syndrome 3 [RCV000652221]|not provided [RCV003478381]uncertain significance7124824003124824003Human3alternate_id
13624447CV522823single nucleotide variantNM_015450.3(POT1):c.1707A>C (p.Pro569=)Hereditary cancer-predisposing syndrome [RCV002406469]|Tumor predisposition syndrome 3 [RCV000652239]|Tumor predisposition syndrome 3 [RCV005034221]likely benign|uncertain significance7124825337124825337Human5alternate_id
13624448CV522827single nucleotide variantNM_015450.3(POT1):c.1662A>C (p.Val554=)Hereditary cancer-predisposing syndrome [RCV002397312]|Tumor predisposition syndrome 3 [RCV000652240]likely benign7124827238124827238Human3alternate_id
13624387CV522832single nucleotide variantNM_015450.3(POT1):c.1518T>A (p.Cys506Ter)Tumor predisposition syndrome 3 [RCV000652210]pathogenic|uncertain significance7124829330124829330Human2alternate_id
13624375CV522835single nucleotide variantNM_015450.3(POT1):c.1381A>T (p.Ser461Cys)Tumor predisposition syndrome 3 [RCV000652196]uncertain significance7124835403124835403Human2alternate_id
13624395CV522847single nucleotide variantNM_015450.3(POT1):c.1294C>T (p.Arg432Ter)Hereditary cancer-predisposing syndrome [RCV004649253]|Hoyeraal-Hreidarsson syndrome [RCV003991537]|Tumor predisposition syndrome 3 [RCV000652220]pathogenic|uncertain significance7124841048124841048Human4alternate_id
13624485CV522848single nucleotide variantNM_015450.3(POT1):c.1283A>G (p.Asn428Ser)Hereditary cancer-predisposing syndrome [RCV001010743]|Tumor predisposition syndrome 3 [RCV000652252]|not provided [RCV003478382]benign|likely benign|uncertain significance7124841059124841059Human3alternate_id
13624384CV522853single nucleotide variantNM_015450.3(POT1):c.688G>A (p.Ala230Thr)Hereditary cancer-predisposing syndrome [RCV002360654]|Tumor predisposition syndrome 3 [RCV000652207]uncertain significance7124858971124858971Human3alternate_id
13624393CV522856single nucleotide variantNM_015450.3(POT1):c.331G>A (p.Gly111Arg)Tumor predisposition syndrome 3 [RCV000652218]uncertain significance7124863565124863565Human2alternate_id
13705201CV536322deletionNM_015450.3(POT1):c.281_282del (p.Gln94fs)Hereditary cancer-predisposing syndrome [RCV004026009]|Tumor predisposition syndrome 3 [RCV001220394]|not provided [RCV000657510]pathogenic|likely pathogenic|uncertain significance7124863614124863615Human3alternate_id
13819801CV561029deletionNC_000007.14:g.(?_124852966)_(124853144_?)delTumor predisposition syndrome 3 [RCV000708469]pathogenic|uncertain significance7124852966124853144Human2alternate_id
13820039CV561249single nucleotide variantNM_015450.3(POT1):c.1829A>G (p.Tyr610Cys)Hereditary cancer-predisposing syndrome [RCV002406592]|Tumor predisposition syndrome 3 [RCV000694713]uncertain significance7124824038124824038Human3alternate_id
13817499CV561253single nucleotide variantNM_015450.3(POT1):c.1322A>G (p.Asn441Ser)Hereditary cancer-predisposing syndrome [RCV001011011]|Tumor predisposition syndrome 3 [RCV000693013]uncertain significance7124841020124841020Human3alternate_id
13822219CV561260single nucleotide variantNM_015450.3(POT1):c.1069C>G (p.Pro357Ala)Hereditary cancer-predisposing syndrome [RCV002255513]|Tumor predisposition syndrome 3 [RCV000697013]uncertain significance7124842901124842901Human3alternate_id
13803605CV561262single nucleotide variantNM_015450.3(POT1):c.1013C>T (p.Thr338Ile)Hereditary cancer-predisposing syndrome [RCV004026471]|Tumor predisposition syndrome 3 [RCV000699334]uncertain significance7124842957124842957Human3alternate_id
13804964CV561264single nucleotide variantNM_015450.3(POT1):c.768G>C (p.Gln256His)Hereditary cancer-predisposing syndrome [RCV002397440]|Tumor predisposition syndrome 3 [RCV000699839]uncertain significance7124853073124853073Human3alternate_id
13813295CV561266single nucleotide variantNM_015450.3(POT1):c.617A>G (p.Asp206Gly)Hereditary cancer-predisposing syndrome [RCV001024971]|Tumor predisposition syndrome 3 [RCV000704267]uncertain significance7124859042124859042Human3alternate_id
13811188CV561268single nucleotide variantNM_015450.3(POT1):c.463G>A (p.Asp155Asn)Hereditary cancer-predisposing syndrome [RCV002334366]|Tumor predisposition syndrome 3 [RCV000702962]likely benign|uncertain significance7124863433124863433Human3alternate_id
13812790CV561272single nucleotide variantNM_015450.3(POT1):c.409C>T (p.Arg137Cys)Hereditary cancer-predisposing syndrome [RCV002325372]|Tumor predisposition syndrome 3 [RCV000689726]uncertain significance7124863487124863487Human3alternate_id
13816929CV561277single nucleotide variantNM_015450.3(POT1):c.323G>C (p.Gly108Ala)Hereditary cancer-predisposing syndrome [RCV002325385]|Tumor predisposition syndrome 3 [RCV000692661]uncertain significance7124863573124863573Human3alternate_id
13813566CV561328deletionNM_015450.3(POT1):c.1858_1860del (p.Ile620del)Hereditary cancer-predisposing syndrome [RCV001013360]|Tumor predisposition syndrome 3 [RCV000690245]uncertain significance7124824007124824009Human3alternate_id
13821540CV561333single nucleotide variantNM_015450.3(POT1):c.1256A>G (p.Tyr419Cys)Hereditary cancer-predisposing syndrome [RCV001010578]|Tumor predisposition syndrome 3 [RCV000696036]|not provided [RCV004588128]|not specified [RCV002268257]uncertain significance7124841086124841086Human3alternate_id
13815557CV561342single nucleotide variantNM_015450.3(POT1):c.1229A>G (p.Asp410Gly)Hereditary cancer-predisposing syndrome [RCV002360827]|Tumor predisposition syndrome 3 [RCV000705781]uncertain significance7124841113124841113Human3alternate_id
13801272CV561345single nucleotide variantNM_015450.3(POT1):c.1123T>A (p.Phe375Ile)Hereditary cancer-predisposing syndrome [RCV004026413]|Tumor predisposition syndrome 3 [RCV000697711]uncertain significance7124842847124842847Human3alternate_id
13821401CV561352single nucleotide variantNM_015450.3(POT1):c.1106A>G (p.Tyr369Cys)Hereditary cancer-predisposing syndrome [RCV002257937]|Tumor predisposition syndrome 3 [RCV000695832]|Tumor predisposition syndrome 3 [RCV005046947]uncertain significance7124842864124842864Human5alternate_id
13812876CV561353single nucleotide variantNM_015450.3(POT1):c.151G>A (p.Asp51Asn)Hereditary cancer-predisposing syndrome [RCV003994083]|Tumor predisposition syndrome 3 [RCV000689791]likely pathogenic|uncertain significance7124871015124871015Human3alternate_id
13812988CV561361single nucleotide variantNM_015450.3(POT1):c.125A>G (p.Asp42Gly)Hereditary cancer-predisposing syndrome [RCV002424611]|Tumor predisposition syndrome 3 [RCV000689836]uncertain significance7124871041124871041Human3alternate_id
13819536CV561373single nucleotide variantNM_015450.3(POT1):c.122C>T (p.Thr41Ile)Tumor predisposition syndrome 3 [RCV000694392]uncertain significance7124892268124892268Human2alternate_id
13819210CV563841duplicationNC_000007.13:g.(?_124464010)_(124499172_?)dupTumor predisposition syndrome 3 [RCV000708168]uncertain significance7124823956124859118Human2alternate_id
13809431CV563986single nucleotide variantNM_015450.3(POT1):c.1882A>G (p.Thr628Ala)Tumor predisposition syndrome 3 [RCV000702128]uncertain significance7124823985124823985Human2alternate_id
13803742CV563989single nucleotide variantNM_015450.3(POT1):c.1492A>G (p.Ile498Val)Hereditary cancer-predisposing syndrome [RCV002388299]|Tumor predisposition syndrome 3 [RCV000699380]likely benign|uncertain significance7124835292124835292Human3alternate_id
13821639CV563991single nucleotide variantNM_015450.3(POT1):c.1442A>G (p.Glu481Gly)Hereditary cancer-predisposing syndrome [RCV001011602]|Tumor predisposition syndrome 3 [RCV000696190]|not provided [RCV001568200]|not specified [RCV003151137]uncertain significance7124835342124835342Human3alternate_id
13816685CV563995single nucleotide variantNM_015450.3(POT1):c.1199T>C (p.Ile400Thr)Hereditary cancer-predisposing syndrome [RCV002343571]|Tumor predisposition syndrome 3 [RCV000706476]|not provided [RCV003318632]uncertain significance7124841143124841143Human3alternate_id
13802951CV563998deletionNM_015450.3(POT1):c.1071del (p.Gln358fs)Long telomere syndrome [RCV003329328]|Tumor predisposition syndrome 3 [RCV000698781]pathogenic|uncertain significance7124842899124842899Human2alternate_id
13818098CV564000single nucleotide variantNM_015450.3(POT1):c.1021C>G (p.Gln341Glu)Hereditary cancer-predisposing syndrome [RCV001017029]|Tumor predisposition syndrome 3 [RCV000707458]uncertain significance7124842949124842949Human3alternate_id
13810159CV564003single nucleotide variantNM_015450.3(POT1):c.839A>G (p.Glu280Gly)Hereditary cancer-predisposing syndrome [RCV003303180]|Tumor predisposition syndrome 3 [RCV000702430]uncertain significance7124853002124853002Human3alternate_id
13821943CV564011single nucleotide variantNM_015450.3(POT1):c.608T>G (p.Leu203Arg)Tumor predisposition syndrome 3 [RCV000696594]uncertain significance7124859051124859051Human2alternate_id
13815571CV564012single nucleotide variantNM_015450.3(POT1):c.365A>G (p.Tyr122Cys)Hereditary cancer-predisposing syndrome [RCV004025098]|Tumor predisposition syndrome 3 [RCV000691688]|not provided [RCV004808843]likely benign|uncertain significance7124863531124863531Human3alternate_id
13806884CV566345single nucleotide variantNM_015450.3(POT1):c.1766T>C (p.Met589Thr)Hereditary cancer-predisposing syndrome [RCV002397448]|Tumor predisposition syndrome 3 [RCV000700780]|not provided [RCV004777845]uncertain significance7124825278124825278Human3alternate_id
13817152CV566348single nucleotide variantNM_015450.3(POT1):c.1612C>G (p.Leu538Val)Hereditary cancer-predisposing syndrome [RCV001012420]|Tumor predisposition syndrome 3 [RCV000706827]|not provided [RCV003489839]uncertain significance7124827288124827288Human3alternate_id
13820529CV566351single nucleotide variantNM_015450.3(POT1):c.1580C>T (p.Ser527Phe)Tumor predisposition syndrome 3 [RCV000694946]uncertain significance7124829268124829268Human2alternate_id
13822369CV566358single nucleotide variantNM_015450.3(POT1):c.1536A>G (p.Ile512Met)Hereditary cancer-predisposing syndrome [RCV004649277]|Tumor predisposition syndrome 3 [RCV000697185]uncertain significance7124829312124829312Human3alternate_id
13814271CV566360single nucleotide variantNM_015450.3(POT1):c.1303G>A (p.Ala435Thr)Hereditary cancer-predisposing syndrome [RCV002386270]|Tumor predisposition syndrome 3 [RCV000704926]|not provided [RCV003489836]likely benign|uncertain significance7124841039124841039Human3alternate_id
13801391CV566371single nucleotide variantNM_015450.3(POT1):c.1259A>T (p.Asp420Val)Tumor predisposition syndrome 3 [RCV000697801]uncertain significance7124841083124841083Human2alternate_id
13807987CV566373single nucleotide variantNM_015450.3(POT1):c.598G>A (p.Asp200Asn)Hereditary cancer-predisposing syndrome [RCV002352120]|Tumor predisposition syndrome 3 [RCV000687063]|not provided [RCV002466563]uncertain significance7124859061124859061Human3alternate_id
13809096CV566374single nucleotide variantNM_015450.3(POT1):c.560C>G (p.Thr187Ser)Tumor predisposition syndrome 3 [RCV000687590]uncertain significance7124859099124859099Human2alternate_id
13820925CV566379single nucleotide variantNM_015450.3(POT1):c.546G>A (p.Lys182=)Hereditary cancer-predisposing syndrome [RCV002343487]|Tumor predisposition syndrome 3 [RCV000695192]uncertain significance7124863350124863350Human3alternate_id
14721063CV635575single nucleotide variantNM_015450.3(POT1):c.1851T>A (p.Asp617Glu)Hereditary cancer-predisposing syndrome [RCV002406748]|Tumor predisposition syndrome 3 [RCV000796932]likely benign|uncertain significance7124824016124824016Human3alternate_id
14726631CV635577single nucleotide variantNM_015450.3(POT1):c.1729G>T (p.Asp577Tyr)Hereditary cancer-predisposing syndrome [RCV001012875]|Tumor predisposition syndrome 3 [RCV000815710]uncertain significance7124825315124825315Human3alternate_id
14713049CV635578duplicationNM_015450.3(POT1):c.1648_1683dup (p.Asp550_Asp561dup)Hereditary cancer-predisposing syndrome [RCV002397575]|Tumor predisposition syndrome 3 [RCV000793993]uncertain significance7124827216124827217Human3alternate_id
14725626CV635579single nucleotide variantNM_015450.3(POT1):c.1658G>A (p.Gly553Glu)Hereditary cancer-predisposing syndrome [RCV002397691]|Tumor predisposition syndrome 3 [RCV000815292]uncertain significance7124827242124827242Human3alternate_id
14719719CV635580single nucleotide variantNM_015450.3(POT1):c.1585G>A (p.Val529Met)Hereditary cancer-predisposing syndrome [RCV003166137]|Tumor predisposition syndrome 3 [RCV000796329]uncertain significance7124829263124829263Human3alternate_id
14718382CV635581single nucleotide variantNM_015450.3(POT1):c.1565C>T (p.Thr522Ile)Hereditary cancer-predisposing syndrome [RCV002397672]|Tumor predisposition syndrome 3 [RCV000812209]|not provided [RCV003442103]|not specified [RCV002268303]uncertain significance7124829283124829283Human3alternate_id
14702712CV635582single nucleotide variantNM_015450.3(POT1):c.1555G>T (p.Val519Phe)Hereditary cancer-predisposing syndrome [RCV002397649]|Tumor predisposition syndrome 3 [RCV000807081]|not provided [RCV001766684]uncertain significance7124829293124829293Human3alternate_id
14723139CV635584single nucleotide variantNM_015450.3(POT1):c.1523G>T (p.Ser508Ile)Hereditary cancer-predisposing syndrome [RCV003166163]|Tumor predisposition syndrome 3 [RCV000797841]uncertain significance7124829325124829325Human3alternate_id
14704438CV635585duplicationNM_015450.3(POT1):c.1516dup (p.Cys506fs)Hereditary cancer-predisposing syndrome [RCV004944159]|Tumor predisposition syndrome 3 [RCV000797383]pathogenic|uncertain significance7124829331124829332Human3alternate_id
14722187CV635586single nucleotide variantNM_015450.3(POT1):c.1416T>A (p.Ser472Arg)Tumor predisposition syndrome 3 [RCV000813797]uncertain significance7124835368124835368Human2alternate_id
14718003CV635587single nucleotide variantNM_015450.3(POT1):c.1411A>C (p.Asn471His)Hereditary cancer-predisposing syndrome [RCV003166129]|Tumor predisposition syndrome 3 [RCV000795656]|not specified [RCV002268285]likely benign|uncertain significance7124835373124835373Human3alternate_id
14719167CV635588single nucleotide variantNM_015450.3(POT1):c.1346A>G (p.Asn449Ser)Tumor predisposition syndrome 3 [RCV000796056]uncertain significance7124840996124840996Human2alternate_id
14717351CV635589single nucleotide variantNM_015450.3(POT1):c.1322A>C (p.Asn441Thr)Hereditary cancer-predisposing syndrome [RCV002381807]|Tumor predisposition syndrome 3 [RCV000811861]|not provided [RCV001772098]uncertain significance7124841020124841020Human3alternate_id
14702953CV635590single nucleotide variantNM_015450.3(POT1):c.1315G>T (p.Val439Leu)Hereditary cancer-predisposing syndrome [RCV001010932]|Tumor predisposition syndrome 3 [RCV000807155]|not provided [RCV004773171]|not specified [RCV001816873]likely benign|uncertain significance7124841027124841027Human3alternate_id
14702042CV635591single nucleotide variantNM_015450.3(POT1):c.1295G>A (p.Arg432Gln)Hereditary cancer-predisposing syndrome [RCV001010811]|Tumor predisposition syndrome 3 [RCV000806706]uncertain significance7124841047124841047Human3alternate_id
14732680CV635592single nucleotide variantNM_015450.3(POT1):c.1168G>A (p.Glu390Lys)Hereditary cancer-predisposing syndrome [RCV001010116]|Tumor predisposition syndrome 3 [RCV000818390]|not provided [RCV004997382]likely benign|uncertain significance7124841174124841174Human3alternate_id
14730417CV635593single nucleotide variantNM_015450.3(POT1):c.1161G>T (p.Leu387Phe)Hereditary cancer-predisposing syndrome [RCV002352438]|Tumor predisposition syndrome 3 [RCV000817394]likely benign|uncertain significance7124842809124842809Human3alternate_id
14704807CV635594single nucleotide variantNM_015450.3(POT1):c.1147C>T (p.Pro383Ser)Tumor predisposition syndrome 3 [RCV000807879]uncertain significance7124842823124842823Human2alternate_id
14716082CV635595single nucleotide variantNM_015450.3(POT1):c.1084A>G (p.Ile362Val)Hereditary cancer-predisposing syndrome [RCV001017235]|Tumor predisposition syndrome 3 [RCV000795011]|not provided [RCV003313147]uncertain significance7124842886124842886Human3alternate_id
14720073CV635596microsatelliteNM_015450.3(POT1):c.1072CAA[1] (p.Gln359del)Hereditary cancer-predisposing syndrome [RCV002422801]|Tumor predisposition syndrome 3 [RCV000812880]uncertain significance7124842893124842895Humanalternate_id
14727527CV635597single nucleotide variantNM_015450.3(POT1):c.991C>T (p.Gln331Ter)Hereditary cancer-predisposing syndrome [RCV002255537]|Tumor predisposition syndrome 3 [RCV000816117]|not provided [RCV005231383]pathogenic|likely pathogenic|uncertain significance7124846957124846957Human3alternate_id
14717696CV635598single nucleotide variantNM_015450.3(POT1):c.949A>G (p.Ser317Gly)Hereditary cancer-predisposing syndrome [RCV001019407]|Tumor predisposition syndrome 3 [RCV000811969]uncertain significance7124851872124851872Human3alternate_id
14724682CV635601single nucleotide variantNM_015450.3(POT1):c.925T>C (p.Ser309Pro)Hereditary cancer-predisposing syndrome [RCV002442646]|Tumor predisposition syndrome 3 [RCV000798492]uncertain significance7124851896124851896Human3alternate_id
14721539CV635602single nucleotide variantNM_015450.3(POT1):c.895G>A (p.Ala299Thr)Hereditary cancer-predisposing syndrome [RCV002442723]|Tumor predisposition syndrome 3 [RCV000813524]|not provided [RCV004997371]likely benign|uncertain significance7124851926124851926Human3alternate_id
14706985CV635603single nucleotide variantNM_015450.3(POT1):c.886A>G (p.Asn296Asp)Hereditary cancer-predisposing syndrome [RCV002442705]|Tumor predisposition syndrome 3 [RCV000808611]likely benign|uncertain significance7124851935124851935Human3alternate_id
14722592CV635605single nucleotide variantNM_015450.3(POT1):c.823A>G (p.Ile275Val)Hereditary cancer-predisposing syndrome [RCV002406844]|Tumor predisposition syndrome 3 [RCV000813990]|not provided [RCV003117605]uncertain significance7124853018124853018Human3alternate_id
14729633CV635606single nucleotide variantNM_015450.3(POT1):c.814G>A (p.Gly272Ser)Hereditary cancer-predisposing syndrome [RCV001027221]|Tumor predisposition syndrome 3 [RCV000817038]|not provided [RCV002225741]uncertain significance7124853027124853027Human3alternate_id
14725876CV635607single nucleotide variantNM_015450.3(POT1):c.797A>T (p.His266Leu)Hereditary cancer-predisposing syndrome [RCV004944165]|Tumor predisposition syndrome 3 [RCV000798998]uncertain significance7124853044124853044Human3alternate_id
14723410CV635608single nucleotide variantNM_015450.3(POT1):c.773T>C (p.Met258Thr)Hereditary cancer-predisposing syndrome [RCV003380720]|Tumor predisposition syndrome 3 [RCV000797939]|not provided [RCV001772055]uncertain significance7124853068124853068Human3alternate_id
14728860CV635609single nucleotide variantNM_015450.3(POT1):c.755A>C (p.Asn252Thr)Tumor predisposition syndrome 3 [RCV000816721]uncertain significance7124853086124853086Human2alternate_id
14733233CV635611single nucleotide variantNM_015450.3(POT1):c.642A>G (p.Gln214=)Hereditary cancer-predisposing syndrome [RCV002360954]|Tumor predisposition syndrome 3 [RCV000802207]likely benign|uncertain significance7124859017124859017Human3alternate_id
14708231CV635612single nucleotide variantNM_015450.3(POT1):c.635G>A (p.Arg212Gln)Hereditary cancer-predisposing syndrome [RCV002363088]|Tumor predisposition syndrome 3 [RCV000809023]|not specified [RCV005231364]uncertain significance7124859024124859024Human3alternate_id
14728406CV635613single nucleotide variantNM_015450.3(POT1):c.557G>A (p.Gly186Asp)Hereditary cancer-predisposing syndrome [RCV001024296]|Tumor predisposition syndrome 3 [RCV000800026]uncertain significance7124859102124859102Human3alternate_id
14703032CV635615single nucleotide variantNM_015450.3(POT1):c.533C>T (p.Ser178Leu)Hereditary cancer-predisposing syndrome [RCV002345819]|Tumor predisposition syndrome 3 [RCV000807185]|not provided [RCV001766686]uncertain significance7124863363124863363Human3alternate_id
14732757CV635616single nucleotide variantNM_015450.3(POT1):c.485T>A (p.Phe162Tyr)Hereditary cancer-predisposing syndrome [RCV001023162]|Tumor predisposition syndrome 3 [RCV000818425]uncertain significance7124863411124863411Human3alternate_id
14728491CV635617single nucleotide variantNM_015450.3(POT1):c.464A>G (p.Asp155Gly)Tumor predisposition syndrome 3 [RCV000800079]uncertain significance7124863432124863432Human2alternate_id
14717599CV635618single nucleotide variantNM_015450.3(POT1):c.449T>C (p.Leu150Ser)Hereditary cancer-predisposing syndrome [RCV001022585]|Tumor predisposition syndrome 3 [RCV000795520]|not provided [RCV002509540]uncertain significance7124863447124863447Human3alternate_id
14712678CV635620single nucleotide variantNM_015450.3(POT1):c.350G>A (p.Arg117His)Hereditary cancer-predisposing syndrome [RCV002453829]|Tumor predisposition syndrome 3 [RCV000810372]uncertain significance7124863546124863546Human3alternate_id
14707588CV635621single nucleotide variantNM_015450.3(POT1):c.188G>C (p.Ser63Thr)Hereditary cancer-predisposing syndrome [RCV003166277]|Tumor predisposition syndrome 3 [RCV000808836]|not provided [RCV004761804]uncertain significance7124870978124870978Human3alternate_id
14710772CV635622single nucleotide variantNM_015450.3(POT1):c.186T>C (p.Phe62=)Hereditary cancer-predisposing syndrome [RCV002406729]|Tumor predisposition syndrome 3 [RCV000793226]likely benign|uncertain significance7124870980124870980Human3alternate_id
14733816CV635623single nucleotide variantNM_015450.3(POT1):c.170T>C (p.Leu57Pro)Tumor predisposition syndrome 3 [RCV000802444]uncertain significance7124870996124870996Human2alternate_id
14719231CV635625single nucleotide variantNM_015450.3(POT1):c.19A>G (p.Thr7Ala)Hereditary cancer-predisposing syndrome [RCV001013996]|Tumor predisposition syndrome 3 [RCV000812515]uncertain significance7124892371124892371Human3alternate_id
14701957CV651638deletionNC_000007.14:g.(?_124823952)_(124897183_?)delTumor predisposition syndrome 3 [RCV000820595]pathogenic|uncertain significance7124823952124897183Human2alternate_id
25325802CV815366deletionNM_015450.3(POT1):c.1686+4_1686+7delHereditary cancer-predisposing syndrome [RCV001012733]|Tumor predisposition syndrome 3 [RCV001325112]uncertain significance7124827207124827210Human3name
26891802CV851622deletionNM_015450.3(POT1):c.1369+1_1369+5delHereditary cancer-predisposing syndrome [RCV002379528]|Tumor predisposition syndrome 3 [RCV001046625]likely pathogenic|uncertain significance7124840968124840972Human3name
38490761CV940869deletionNM_015450.3(POT1):c.1163+3_1163+6delHereditary cancer-predisposing syndrome [RCV002322078]|Tumor predisposition syndrome 3 [RCV001222375]|not specified [RCV004596426]uncertain significance7124842801124842804Human3name
126730050CV991987single nucleotide variantNM_015450.3(POT1):c.1877A>G (p.Asp626Gly)Hereditary cancer-predisposing syndrome [RCV004036286]|Tumor predisposition syndrome 3 [RCV001303671]uncertain significance7124823990124823990Human3alternate_id
126752965CV991988single nucleotide variantNM_015450.3(POT1):c.1755G>T (p.Met585Ile)Tumor predisposition syndrome 3 [RCV001297818]uncertain significance7124825289124825289Human2alternate_id
126734832CV991989single nucleotide variantNM_015450.3(POT1):c.1753A>G (p.Met585Val)Hereditary cancer-predisposing syndrome [RCV002402819]|Tumor predisposition syndrome 3 [RCV001294985]uncertain significance7124825291124825291Human3alternate_id
126726878CV991990single nucleotide variantNM_015450.3(POT1):c.1714G>C (p.Glu572Gln)Tumor predisposition syndrome 3 [RCV001303021]uncertain significance7124825330124825330Human2alternate_id
126736983CV991991single nucleotide variantNM_015450.3(POT1):c.1678A>T (p.Met560Leu)Hereditary cancer-predisposing syndrome [RCV003166725]|Tumor predisposition syndrome 3 [RCV001304816]uncertain significance7124827222124827222Human3alternate_id
126725818CV991993single nucleotide variantNM_015450.3(POT1):c.1459G>A (p.Asp487Asn)Hereditary cancer-predisposing syndrome [RCV003166706]|Tumor predisposition syndrome 3 [RCV001302693]likely benign|uncertain significance7124835325124835325Human3alternate_id
126754664CV991994single nucleotide variantNM_015450.3(POT1):c.1396C>T (p.Leu466Phe)Tumor predisposition syndrome 3 [RCV001307682]uncertain significance7124835388124835388Human2alternate_id
126725256CV991995single nucleotide variantNM_015450.3(POT1):c.1334T>C (p.Leu445Pro)Tumor predisposition syndrome 3 [RCV001302510]uncertain significance7124841008124841008Human2alternate_id
126725219CV991996single nucleotide variantNM_015450.3(POT1):c.1266A>G (p.Lys422=)Tumor predisposition syndrome 3 [RCV001302494]likely benign|uncertain significance7124841076124841076Human2alternate_id
126759041CV991997duplicationNM_015450.3(POT1):c.1213_1233dup (p.Ala405_Val411dup)Tumor predisposition syndrome 3 [RCV001308903]uncertain significance7124841108124841109Human2alternate_id
126754342CV991998single nucleotide variantNM_015450.3(POT1):c.1205A>G (p.Gln402Arg)Hereditary cancer-predisposing syndrome [RCV002350532]|Tumor predisposition syndrome 3 [RCV001298106]|not provided [RCV001760343]likely benign|uncertain significance7124841137124841137Human3alternate_id
126761213CV991999single nucleotide variantNM_015450.3(POT1):c.1117A>G (p.Arg373Gly)Hereditary cancer-predisposing syndrome [RCV002437058]|Tumor predisposition syndrome 3 [RCV001309533]uncertain significance7124842853124842853Human3alternate_id
126761992CV992000single nucleotide variantNM_015450.3(POT1):c.1009C>T (p.Leu337Phe)Hereditary cancer-predisposing syndrome [RCV002451667]|Tumor predisposition syndrome 3 [RCV001300256]|not provided [RCV002285473]uncertain significance7124842961124842961Human3alternate_id
126747080CV992001single nucleotide variantNM_015450.3(POT1):c.901C>A (p.Gln301Lys)Tumor predisposition syndrome 3 [RCV001306192]|not provided [RCV003153982]uncertain significance7124851920124851920Human2alternate_id
126759316CV992002single nucleotide variantNM_015450.3(POT1):c.815G>T (p.Gly272Val)Hereditary cancer-predisposing syndrome [RCV005262361]|Tumor predisposition syndrome 3 [RCV001299450]uncertain significance7124853026124853026Human3alternate_id
126757485CV992003single nucleotide variantNM_015450.3(POT1):c.712T>C (p.Phe238Leu)Tumor predisposition syndrome 3 [RCV001298898]uncertain significance7124853129124853129Human2alternate_id
126756384CV992004single nucleotide variantNM_015450.3(POT1):c.688G>T (p.Ala230Ser)Tumor predisposition syndrome 3 [RCV001298568]uncertain significance7124858971124858971Human2alternate_id
126728818CV992005single nucleotide variantNM_015450.3(POT1):c.629T>A (p.Ile210Asn)Tumor predisposition syndrome 3 [RCV001303466]uncertain significance7124859030124859030Human2alternate_id
126758514CV992007single nucleotide variantNM_015450.3(POT1):c.466G>A (p.Val156Ile)Hereditary cancer-predisposing syndrome [RCV002327686]|Tumor predisposition syndrome 3 [RCV001308743]uncertain significance7124863430124863430Human3alternate_id
126735120CV992008single nucleotide variantNM_015450.3(POT1):c.431T>C (p.Met144Thr)Tumor predisposition syndrome 3 [RCV001304553]uncertain significance7124863465124863465Human2alternate_id
126763079CV992009insertionNM_015450.3(POT1):c.285_286insCT (p.Ile96fs)Tumor predisposition syndrome 3 [RCV001300565]pathogenic|uncertain significance7124863610124863611Human2alternate_id
126732432CV992010single nucleotide variantNM_015450.3(POT1):c.265T>A (p.Tyr89Asn)Tumor predisposition syndrome 3 [RCV001294560]uncertain significance7124863631124863631Human2alternate_id
126737107CV992012single nucleotide variantNM_015450.3(POT1):c.182T>C (p.Leu61Pro)Hereditary cancer-predisposing syndrome [RCV004035640]|Tumor predisposition syndrome 3 [RCV001295308]uncertain significance7124870984124870984Human3alternate_id
405250026CV3011740duplicationNM_015450.3(POT1):c.1793-10_1793-6dupTumor predisposition syndrome 3 [RCV003747375]likely benign7124824079124824080Human2name
150426033CV1183923deletionNM_015450.3(POT1):c.1506-80_1506-79delnot provided [RCV001558820]likely benign7124829421124829422Humanname
150536746CV1302885microsatelliteNM_015450.3(POT1):c.1506-16_1506-13delTumor predisposition syndrome 3 [RCV002077196]|not provided [RCV001763630]likely benign|uncertain significance7124829355124829358Humanname
152036395CV1521652deletionNM_015450.3(POT1):c.1007-35_1007-18delTumor predisposition syndrome 3 [RCV002187572]likely benign7124842981124842998Human2name
152147188CV1656074inversionNM_015450.3(POT1):c.1006+15_1006+16invTumor predisposition syndrome 3 [RCV002220230]likely benign7124846926124846927Humanname
156050303CV2091401deletionNM_015450.3(POT1):c.1793-16_1793-13delTumor predisposition syndrome 3 [RCV002886139]likely benign7124824087124824090Human2name
156379385CV2117848microsatelliteNM_015450.3(POT1):c.1370-14_1370-11delTumor predisposition syndrome 3 [RCV002943021]likely benign7124835425124835428Humanname
405140790CV2883217insertionNM_015450.3(POT1):c.1686+6_1686+7insTTTumor predisposition syndrome 3 [RCV003584093]likely benign7124827207124827208Human2name
405142886CV2908772duplicationNM_015450.3(POT1):c.1595-14_1595-11dupTumor predisposition syndrome 3 [RCV003584230]likely benign7124827315124827316Human2name
405116527CV3134193deletionNM_015450.3(POT1):c.1506-20_1506-19delTumor predisposition syndrome 3 [RCV003836795]likely benign7124829361124829362Human2name
597911337CV3850475deletionNM_015450.3(POT1):c.1369+20_1369+21delTumor predisposition syndrome 3 [RCV005203623]likely benign7124840952124840953Human2name
15114419CV787493microsatelliteNM_015450.3(POT1):c.1505+7_1505+8insTTTTCTumor predisposition syndrome 3 [RCV001405619]likely benign7124835271124835272Humanname
152107181CV1639144microsatelliteNM_015450.3(POT1):c.1505+12_1505+13insTTTTATumor predisposition syndrome 3 [RCV002152563]likely benign7124835266124835267Humanname
156304853CV2013667indelNM_015450.3(POT1):c.1164-14_1164-13delinsATTumor predisposition syndrome 3 [RCV002716229]likely benign7124841191124841192Humanname
152066628CV1659953microsatelliteNM_015450.3(POT1):c.1163+19_1163+20insTTCCATAATACTumor predisposition syndrome 3 [RCV002147512]likely benign7124842787124842788Humanname