| 155740558 | CV1809462 | single nucleotide variant | NM_015450.3(POT1):c.-4A>G | Hereditary cancer-predisposing syndrome [RCV002343032] | uncertain significance | 7 | 124897177 | 124897177 | Human | 1 | name |
| 597662864 | CV3580885 | single nucleotide variant | NM_015450.3(POT1):c.-3T>G | Hereditary cancer-predisposing syndrome [RCV004946570] | uncertain significance | 7 | 124897176 | 124897176 | Human | 1 | name |
| 126917531 | CV1044629 | single nucleotide variant | NM_015450.3(POT1):c.9+4A>G | Tumor predisposition syndrome 3 [RCV001361225] | pathogenic|uncertain significance | 7 | 124897161 | 124897161 | Human | 2 | name , alternate_id |
| 150420095 | CV1193879 | single nucleotide variant | NM_015450.3(POT1):c.*89A>G | not provided [RCV001569966] | likely benign | 7 | 124823873 | 124823873 | Human | | name |
| 152156007 | CV1572971 | single nucleotide variant | NM_015450.3(POT1):c.-34T>C | Tumor predisposition syndrome 3 [RCV002180140]|not specified [RCV002268602] | benign|likely benign | 7 | 124897207 | 124897207 | Human | 2 | name |
| 152148920 | CV1616655 | single nucleotide variant | NM_015450.3(POT1):c.9+8G>T | Tumor predisposition syndrome 3 [RCV002201664] | likely benign | 7 | 124897157 | 124897157 | Human | 2 | name |
| 153302626 | CV1689831 | single nucleotide variant | NM_015450.3(POT1):c.-18G>T | not specified [RCV002268729] | likely benign | 7 | 124897191 | 124897191 | Human | | name |
| 155700416 | CV1821071 | single nucleotide variant | NM_015450.3(POT1):c.9+1G>A | Hereditary cancer-predisposing syndrome [RCV002376353]|Tumor predisposition syndrome 3 [RCV003746630] | likely pathogenic | 7 | 124897164 | 124897164 | Human | 3 | name |
| 243049555 | CV2416944 | single nucleotide variant | NM_015450.3(POT1):c.9+1G>C | not provided [RCV003151616] | likely pathogenic | 7 | 124897164 | 124897164 | Human | | name |
| 401798233 | CV2741392 | single nucleotide variant | NM_015450.3(POT1):c.*29A>G | not specified [RCV003322555] | likely benign | 7 | 124823933 | 124823933 | Human | | name |
| 405150403 | CV2884130 | single nucleotide variant | NM_015450.3(POT1):c.9+5G>T | Tumor predisposition syndrome 3 [RCV003585601] | uncertain significance | 7 | 124897160 | 124897160 | Human | 2 | name |
| 405248888 | CV2953893 | single nucleotide variant | NM_015450.3(POT1):c.9+4A>C | Tumor predisposition syndrome 3 [RCV003746813] | pathogenic | 7 | 124897161 | 124897161 | Human | 2 | name |
| 405707183 | CV3384113 | single nucleotide variant | NM_015450.3(POT1):c.-39G>T | Hereditary cancer-predisposing syndrome [RCV004521858] | uncertain significance | 7 | 124897212 | 124897212 | Human | 1 | name |
| 405707308 | CV3384129 | single nucleotide variant | NM_015450.3(POT1):c.9+5G>C | Hereditary cancer-predisposing syndrome [RCV004521874] | uncertain significance | 7 | 124897160 | 124897160 | Human | 1 | name |
| 13500466 | CV457157 | single nucleotide variant | NM_015450.3(POT1):c.9+3A>G | Hereditary cancer-predisposing syndrome [RCV001018628]|Tumor predisposition syndrome 3 [RCV000540425]|not provided [RCV001770480] | likely benign|uncertain significance | 7 | 124897162 | 124897162 | Human | 3 | name , alternate_id |
| 13538594 | CV501874 | single nucleotide variant | NM_015450.3(POT1):c.9+6A>G | Tumor predisposition syndrome 3 [RCV001049760]|not provided [RCV001698100]|not specified [RCV002268217] | likely benign|uncertain significance | 7 | 124897159 | 124897159 | Human | 2 | name , alternate_id |
| 15141599 | CV695344 | single nucleotide variant | NM_015450.3(POT1):c.9+8G>A | Tumor predisposition syndrome 3 [RCV000877704]|not specified [RCV004596366] | likely benign | 7 | 124897157 | 124897157 | Human | 2 | name |
| 15136179 | CV695345 | single nucleotide variant | NM_015450.3(POT1):c.9+7T>C | Tumor predisposition syndrome 3 [RCV001436274] | likely benign | 7 | 124897158 | 124897158 | Human | 2 | name |
| 126764631 | CV1027702 | single nucleotide variant | NM_015450.3(POT1):c.10-3T>C | Hereditary cancer-predisposing syndrome [RCV003284229]|Tumor predisposition syndrome 3 [RCV001341726] | uncertain significance | 7 | 124892383 | 124892383 | Human | 3 | name , alternate_id |
| 150488965 | CV1208341 | single nucleotide variant | NM_015450.3(POT1):c.-321A>T | not provided [RCV001592201] | likely benign | 7 | 124928909 | 124928909 | Human | | name |
| 152046222 | CV1561397 | single nucleotide variant | NM_015450.3(POT1):c.9+12T>C | Tumor predisposition syndrome 3 [RCV002108370] | likely benign | 7 | 124897153 | 124897153 | Human | 2 | name |
| 152055847 | CV1582208 | single nucleotide variant | NM_015450.3(POT1):c.9+10T>A | Tumor predisposition syndrome 3 [RCV002089695] | likely benign | 7 | 124897155 | 124897155 | Human | 2 | name |
| 152120176 | CV1654938 | single nucleotide variant | NM_015450.3(POT1):c.9+20A>C | Tumor predisposition syndrome 3 [RCV002216669] | likely benign | 7 | 124897145 | 124897145 | Human | 2 | name |
| 152105153 | CV1658939 | single nucleotide variant | NM_015450.3(POT1):c.9+12T>G | Tumor predisposition syndrome 3 [RCV002152301] | likely benign | 7 | 124897153 | 124897153 | Human | 2 | name |
| 156309625 | CV1928260 | single nucleotide variant | NM_015450.3(POT1):c.9+16G>A | Tumor predisposition syndrome 3 [RCV002648079] | likely benign | 7 | 124897149 | 124897149 | Human | 2 | name |
| 329368767 | CV2423026 | single nucleotide variant | NM_015450.3(POT1):c.10-5T>G | Hereditary cancer-predisposing syndrome [RCV003171444] | uncertain significance | 7 | 124892385 | 124892385 | Human | 1 | name |
| 401922742 | CV2823145 | single nucleotide variant | NM_015450.3(POT1):c.*998G>A | not provided [RCV003434116] | benign|likely benign | 7 | 124822964 | 124822964 | Human | | name |
| 405008877 | CV2853136 | single nucleotide variant | NM_015450.3(POT1):c.9+47A>G | not specified [RCV003494330] | likely benign | 7 | 124897118 | 124897118 | Human | | name |
| 405250964 | CV3074505 | single nucleotide variant | NM_015450.3(POT1):c.9+11A>G | Tumor predisposition syndrome 3 [RCV003747631] | likely benign | 7 | 124897154 | 124897154 | Human | 2 | name |
| 597883996 | CV3858017 | single nucleotide variant | NM_015450.3(POT1):c.9+15A>G | Tumor predisposition syndrome 3 [RCV005199445] | likely benign | 7 | 124897150 | 124897150 | Human | 2 | name |
| 13473871 | CV456211 | single nucleotide variant | NM_015450.3(POT1):c.9+10T>C | Tumor predisposition syndrome 3 [RCV000525571] | likely benign | 7 | 124897155 | 124897155 | Human | 2 | name , alternate_id |
| 13502344 | CV456756 | single nucleotide variant | NM_015450.3(POT1):c.10-2A>C | Hereditary cancer-predisposing syndrome [RCV003302882]|Tumor predisposition syndrome 3 [RCV000541909]|Tumor predisposition syndrome 3 [RCV005034114]|not provided [RCV003114674] | pathogenic|likely pathogenic|uncertain significance | 7 | 124892382 | 124892382 | Human | 5 | name , alternate_id |
| 13811633 | CV566386 | single nucleotide variant | NM_015450.3(POT1):c.10-1G>A | Tumor predisposition syndrome 3 [RCV000688884] | pathogenic|likely pathogenic|uncertain significance | 7 | 124892381 | 124892381 | Human | 2 | name , alternate_id |
| 14736463 | CV655773 | single nucleotide variant | NM_015450.3(POT1):c.-304C>A | not provided [RCV000838481] | likely benign | 7 | 124928892 | 124928892 | Human | | name |
| 126749419 | CV1007161 | single nucleotide variant | NM_015450.3(POT1):c.950-3T>C | Hereditary cancer-predisposing syndrome [RCV002377422]|Tumor predisposition syndrome 3 [RCV001326531] | likely benign|uncertain significance | 7 | 124847001 | 124847001 | Human | 3 | name , alternate_id |
| 126755895 | CV1007162 | deletion | NM_015450.3(POT1):c.869+4del | Hereditary cancer-predisposing syndrome [RCV002447383]|Tumor predisposition syndrome 3 [RCV001327848] | pathogenic|uncertain significance | 7 | 124852968 | 124852968 | Human | 3 | name , alternate_id |
| 126726740 | CV1027699 | single nucleotide variant | NM_015450.3(POT1):c.125-1G>T | Tumor predisposition syndrome 3 [RCV001348545] | likely pathogenic|uncertain significance | 7 | 124871042 | 124871042 | Human | 2 | name , alternate_id |
| 127231537 | CV1074348 | single nucleotide variant | NM_015450.3(POT1):c.950-8T>G | Tumor predisposition syndrome 3 [RCV001395361] | likely benign | 7 | 124847006 | 124847006 | Human | 2 | name , alternate_id |
| 127302524 | CV1117495 | single nucleotide variant | NM_015450.3(POT1):c.950-7T>C | Tumor predisposition syndrome 3 [RCV001461657] | likely benign | 7 | 124847005 | 124847005 | Human | 2 | name , alternate_id |
| 127309887 | CV1117497 | single nucleotide variant | NM_015450.3(POT1):c.870-4A>G | Hereditary cancer-predisposing syndrome [RCV002377763]|Tumor predisposition syndrome 3 [RCV001456471] | likely benign | 7 | 124851955 | 124851955 | Human | 3 | name , alternate_id |
| 127332661 | CV1117499 | single nucleotide variant | NM_015450.3(POT1):c.547-4G>A | Tumor predisposition syndrome 3 [RCV001472374] | likely benign | 7 | 124859116 | 124859116 | Human | 2 | name , alternate_id |
| 127300161 | CV1117502 | single nucleotide variant | NM_015450.3(POT1):c.256-6T>C | Tumor predisposition syndrome 3 [RCV001461033] | likely benign | 7 | 124863646 | 124863646 | Human | 2 | name , alternate_id |
| 127287172 | CV1138425 | single nucleotide variant | NM_015450.3(POT1):c.949+9A>G | Tumor predisposition syndrome 3 [RCV001494784] | likely benign | 7 | 124851863 | 124851863 | Human | 2 | name , alternate_id |
| 127288776 | CV1138427 | single nucleotide variant | NM_015450.3(POT1):c.703-9A>G | Tumor predisposition syndrome 3 [RCV001495412] | likely benign | 7 | 124853147 | 124853147 | Human | 2 | name , alternate_id |
| 150504797 | CV1211465 | single nucleotide variant | NM_015450.3(POT1):c.9+306G>T | not provided [RCV001595630] | benign | 7 | 124896859 | 124896859 | Human | | name |
| 151881717 | CV1339818 | single nucleotide variant | NM_015450.3(POT1):c.949+2T>G | Hereditary cancer-predisposing syndrome [RCV005264167]|Tumor predisposition syndrome 3 [RCV001999685] | likely pathogenic | 7 | 124851870 | 124851870 | Human | 3 | name |
| 151796500 | CV1347879 | single nucleotide variant | NM_015450.3(POT1):c.703-1G>A | Tumor predisposition syndrome 3 [RCV001990556] | likely pathogenic | 7 | 124853139 | 124853139 | Human | 2 | name |
| 151874054 | CV1382375 | single nucleotide variant | NM_015450.3(POT1):c.703-2A>C | Tumor predisposition syndrome 3 [RCV002019314] | likely pathogenic | 7 | 124853140 | 124853140 | Human | 2 | name |
| 151788016 | CV1412938 | single nucleotide variant | NM_015450.3(POT1):c.869+4A>T | Tumor predisposition syndrome 3 [RCV001989791] | uncertain significance | 7 | 124852968 | 124852968 | Human | 2 | name |
| 151822952 | CV1415159 | single nucleotide variant | NM_015450.3(POT1):c.546+4C>A | Hereditary cancer-predisposing syndrome [RCV002344054]|Tumor predisposition syndrome 3 [RCV001954945] | uncertain significance | 7 | 124863346 | 124863346 | Human | 3 | name |
| 151773139 | CV1417095 | single nucleotide variant | NM_015450.3(POT1):c.702+1G>A | Hereditary cancer-predisposing syndrome [RCV002361339]|Tumor predisposition syndrome 3 [RCV001971377] | likely pathogenic|uncertain significance | 7 | 124858956 | 124858956 | Human | 3 | name |
| 151877116 | CV1460140 | single nucleotide variant | NM_015450.3(POT1):c.255+3A>G | Hereditary cancer-predisposing syndrome [RCV004651924]|Tumor predisposition syndrome 3 [RCV002036392] | uncertain significance | 7 | 124870908 | 124870908 | Human | 3 | name |
| 151839636 | CV1462841 | single nucleotide variant | NM_015450.3(POT1):c.124+2T>C | Hereditary cancer-predisposing syndrome [RCV004945905]|Tumor predisposition syndrome 3 [RCV002031665] | likely pathogenic|uncertain significance | 7 | 124892264 | 124892264 | Human | 3 | name |
| 151738106 | CV1500622 | single nucleotide variant | NM_015450.3(POT1):c.702+6G>A | Tumor predisposition syndrome 3 [RCV001984960] | uncertain significance | 7 | 124858951 | 124858951 | Human | 2 | name |
| 152111791 | CV1539119 | single nucleotide variant | NM_015450.3(POT1):c.870-7A>T | Tumor predisposition syndrome 3 [RCV002080353] | likely benign | 7 | 124851958 | 124851958 | Human | 2 | name |
| 152089006 | CV1541482 | single nucleotide variant | NM_015450.3(POT1):c.10-18T>C | Tumor predisposition syndrome 3 [RCV002171578] | likely benign | 7 | 124892398 | 124892398 | Human | 2 | name |
| 152046775 | CV1548430 | single nucleotide variant | NM_015450.3(POT1):c.10-11T>C | Tumor predisposition syndrome 3 [RCV002071688] | likely benign | 7 | 124892391 | 124892391 | Human | 2 | name |
| 152111357 | CV1552408 | single nucleotide variant | NM_015450.3(POT1):c.10-13T>C | Tumor predisposition syndrome 3 [RCV002134526] | likely benign | 7 | 124892393 | 124892393 | Human | 2 | name |
| 152111790 | CV1552612 | single nucleotide variant | NM_015450.3(POT1):c.10-16T>G | Tumor predisposition syndrome 3 [RCV002134577] | likely benign | 7 | 124892396 | 124892396 | Human | 2 | name |
| 152166078 | CV1557254 | single nucleotide variant | NM_015450.3(POT1):c.10-19C>T | Tumor predisposition syndrome 3 [RCV002181863] | likely benign | 7 | 124892399 | 124892399 | Human | 2 | name |
| 152167583 | CV1577483 | single nucleotide variant | NM_015450.3(POT1):c.869+8T>C | Tumor predisposition syndrome 3 [RCV002204744] | likely benign | 7 | 124852964 | 124852964 | Human | 2 | name |
| 152050849 | CV1610624 | deletion | NM_015450.3(POT1):c.703-3del | Hereditary cancer-predisposing syndrome [RCV003382844]|Tumor predisposition syndrome 3 [RCV002127235] | benign|uncertain significance | 7 | 124853141 | 124853141 | Human | 3 | name |
| 152048390 | CV1622931 | duplication | NM_015450.3(POT1):c.10-18dup | Tumor predisposition syndrome 3 [RCV002126923] | likely benign | 7 | 124892397 | 124892398 | Human | 2 | name |
| 152081095 | CV1623182 | single nucleotide variant | NM_015450.3(POT1):c.546+7A>G | Tumor predisposition syndrome 3 [RCV002170543] | likely benign | 7 | 124863343 | 124863343 | Human | 2 | name |
| 152157774 | CV1626251 | single nucleotide variant | NM_015450.3(POT1):c.702+9T>A | Tumor predisposition syndrome 3 [RCV002180378] | likely benign | 7 | 124858948 | 124858948 | Human | 2 | name |
| 152143939 | CV1651569 | single nucleotide variant | NM_015450.3(POT1):c.547-6T>C | Tumor predisposition syndrome 3 [RCV002138528] | likely benign | 7 | 124859118 | 124859118 | Human | 2 | name |
| 152029634 | CV1653378 | duplication | NM_015450.3(POT1):c.950-4dup | Tumor predisposition syndrome 3 [RCV002085867] | likely benign | 7 | 124847001 | 124847002 | Human | 2 | name |
| 152052916 | CV1658192 | single nucleotide variant | NM_015450.3(POT1):c.950-5T>C | Hereditary cancer-predisposing syndrome [RCV004945933]|Tumor predisposition syndrome 3 [RCV002207741] | likely benign|uncertain significance | 7 | 124847003 | 124847003 | Human | 3 | name |
| 152165109 | CV1658579 | deletion | NM_015450.3(POT1):c.702+7del | Tumor predisposition syndrome 3 [RCV002160383] | likely benign | 7 | 124858950 | 124858950 | Human | 2 | name |
| 155668779 | CV1799963 | single nucleotide variant | NM_015450.3(POT1):c.546+3A>G | Hereditary cancer-predisposing syndrome [RCV002349717]|Tumor predisposition syndrome 3 [RCV003096748] | uncertain significance | 7 | 124863347 | 124863347 | Human | 3 | name |
| 155687943 | CV1817501 | single nucleotide variant | NM_015450.3(POT1):c.870-4A>T | Hereditary cancer-predisposing syndrome [RCV002373428] | likely benign | 7 | 124851955 | 124851955 | Human | 1 | name |
| 155691802 | CV1821472 | single nucleotide variant | NM_015450.3(POT1):c.949+4A>G | Hereditary cancer-predisposing syndrome [RCV002374093] | uncertain significance | 7 | 124851868 | 124851868 | Human | 1 | name |
| 155692112 | CV1821535 | single nucleotide variant | NM_015450.3(POT1):c.950-1G>A | Hereditary cancer-predisposing syndrome [RCV002374154] | uncertain significance | 7 | 124846999 | 124846999 | Human | 1 | name |
| 155726692 | CV1848669 | single nucleotide variant | NM_015450.3(POT1):c.256-5C>A | Hereditary cancer-predisposing syndrome [RCV002433430]|Tumor predisposition syndrome 3 [RCV003746646] | likely benign|uncertain significance | 7 | 124863645 | 124863645 | Human | 3 | name |
| 156392736 | CV1924574 | single nucleotide variant | NM_015450.3(POT1):c.10-12C>T | Tumor predisposition syndrome 3 [RCV002654538] | likely benign | 7 | 124892392 | 124892392 | Human | 2 | name |
| 156387021 | CV1986677 | single nucleotide variant | NM_015450.3(POT1):c.547-7A>T | Tumor predisposition syndrome 3 [RCV002634678] | likely benign|uncertain significance | 7 | 124859119 | 124859119 | Human | 2 | name |
| 156052171 | CV2064604 | single nucleotide variant | NM_015450.3(POT1):c.546+2T>G | Tumor predisposition syndrome 3 [RCV002846473] | likely pathogenic | 7 | 124863348 | 124863348 | Human | 2 | name |
| 156085288 | CV2095064 | single nucleotide variant | NM_015450.3(POT1):c.702+8A>G | Tumor predisposition syndrome 3 [RCV002912841] | uncertain significance | 7 | 124858949 | 124858949 | Human | 2 | name |
| 156121499 | CV2128548 | single nucleotide variant | NM_015450.3(POT1):c.125-8T>C | Tumor predisposition syndrome 3 [RCV002953515] | likely benign | 7 | 124871049 | 124871049 | Human | 2 | name |
| 155911967 | CV2153317 | single nucleotide variant | NM_015450.3(POT1):c.869+6C>A | Tumor predisposition syndrome 3 [RCV003012323] | uncertain significance | 7 | 124852966 | 124852966 | Human | 2 | name |
| 156197551 | CV2159121 | single nucleotide variant | NM_015450.3(POT1):c.869+1G>T | Tumor predisposition syndrome 3 [RCV003041857] | likely pathogenic | 7 | 124852971 | 124852971 | Human | 2 | name |
| 156397593 | CV2178452 | single nucleotide variant | NM_015450.3(POT1):c.255+6A>G | Tumor predisposition syndrome 3 [RCV003052013] | uncertain significance | 7 | 124870905 | 124870905 | Human | 2 | name |
| 156334839 | CV2181996 | single nucleotide variant | NM_015450.3(POT1):c.547-7A>G | Tumor predisposition syndrome 3 [RCV003047419] | likely benign | 7 | 124859119 | 124859119 | Human | 2 | name |
| 156370097 | CV2190700 | single nucleotide variant | NM_015450.3(POT1):c.870-3T>G | Tumor predisposition syndrome 3 [RCV003066219] | uncertain significance | 7 | 124851954 | 124851954 | Human | 2 | name |
| 329385089 | CV2423020 | single nucleotide variant | NM_015450.3(POT1):c.546+2T>C | Hereditary cancer-predisposing syndrome [RCV003177013] | uncertain significance | 7 | 124863348 | 124863348 | Human | 1 | name |
| 401798209 | CV2741300 | duplication | NM_015450.3(POT1):c.-39-8dup | not specified [RCV003322463] | likely benign | 7 | 124897219 | 124897220 | Human | | name |
| 401854552 | CV2753319 | single nucleotide variant | NM_015450.3(POT1):c.124+1G>A | Hereditary cancer-predisposing syndrome [RCV003338961] | likely pathogenic | 7 | 124892265 | 124892265 | Human | 1 | name |
| 405140132 | CV2882385 | single nucleotide variant | NM_015450.3(POT1):c.949+7A>G | Tumor predisposition syndrome 3 [RCV003584057] | likely benign | 7 | 124851865 | 124851865 | Human | 2 | name |
| 405141650 | CV2900859 | single nucleotide variant | NM_015450.3(POT1):c.546+6T>G | Tumor predisposition syndrome 3 [RCV003584181] | uncertain significance | 7 | 124863344 | 124863344 | Human | 2 | name |
| 405142508 | CV2917690 | single nucleotide variant | NM_015450.3(POT1):c.125-4C>T | Tumor predisposition syndrome 3 [RCV003584297] | likely benign | 7 | 124871045 | 124871045 | Human | 2 | name |
| 405249684 | CV3000990 | single nucleotide variant | NM_015450.3(POT1):c.125-5T>C | Tumor predisposition syndrome 3 [RCV003747231] | uncertain significance | 7 | 124871046 | 124871046 | Human | 2 | name |
| 405250029 | CV3011759 | single nucleotide variant | NM_015450.3(POT1):c.949+1G>C | Tumor predisposition syndrome 3 [RCV003747376] | likely pathogenic | 7 | 124851871 | 124851871 | Human | 2 | name |
| 405250525 | CV3070339 | single nucleotide variant | NM_015450.3(POT1):c.870-9C>G | Tumor predisposition syndrome 3 [RCV003747566] | likely benign | 7 | 124851960 | 124851960 | Human | 2 | name |
| 405202142 | CV3143622 | single nucleotide variant | NM_015450.3(POT1):c.703-2A>T | Tumor predisposition syndrome 3 [RCV003844608] | likely pathogenic | 7 | 124853140 | 124853140 | Human | 2 | name |
| 402474734 | CV3182804 | single nucleotide variant | NM_015450.3(POT1):c.870-7A>C | Tumor predisposition syndrome 3 [RCV003875048] | likely benign | 7 | 124851958 | 124851958 | Human | 2 | name |
| 405707159 | CV3384116 | single nucleotide variant | NM_015450.3(POT1):c.546+4C>T | Hereditary cancer-predisposing syndrome [RCV004521861] | uncertain significance | 7 | 124863346 | 124863346 | Human | 1 | name |
| 405707151 | CV3384117 | deletion | NM_015450.3(POT1):c.547-2del | Hereditary cancer-predisposing syndrome [RCV004521862] | uncertain significance | 7 | 124859114 | 124859114 | Human | 1 | name |
| 407482210 | CV3461128 | single nucleotide variant | NM_015450.3(POT1):c.950-2A>G | Hereditary cancer-predisposing syndrome [RCV004664728] | uncertain significance | 7 | 124847000 | 124847000 | Human | 1 | name |
| 407529336 | CV3471198 | single nucleotide variant | NM_015450.3(POT1):c.125-3C>T | Hereditary cancer-predisposing syndrome [RCV004655994] | uncertain significance | 7 | 124871044 | 124871044 | Human | 1 | name |
| 597662604 | CV3580842 | single nucleotide variant | NM_015450.3(POT1):c.255+3A>T | Hereditary cancer-predisposing syndrome [RCV004946531] | uncertain significance | 7 | 124870908 | 124870908 | Human | 1 | name |
| 597662885 | CV3580888 | single nucleotide variant | NM_015450.3(POT1):c.870-2A>T | Hereditary cancer-predisposing syndrome [RCV004946573] | likely pathogenic | 7 | 124851953 | 124851953 | Human | 1 | name |
| 597830661 | CV3743199 | single nucleotide variant | NM_015450.3(POT1):c.547-7A>C | Tumor predisposition syndrome 3 [RCV005062207] | likely benign | 7 | 124859119 | 124859119 | Human | 2 | name |
| 597946460 | CV3790138 | single nucleotide variant | NM_015450.3(POT1):c.870-1G>A | Tumor predisposition syndrome 3 [RCV005134839] | likely pathogenic | 7 | 124851952 | 124851952 | Human | 2 | name |
| 597972661 | CV3790449 | single nucleotide variant | NM_015450.3(POT1):c.949+1G>T | Tumor predisposition syndrome 3 [RCV005142872] | likely pathogenic | 7 | 124851871 | 124851871 | Human | 2 | name |
| 597950619 | CV3798122 | single nucleotide variant | NM_015450.3(POT1):c.10-15C>T | Tumor predisposition syndrome 3 [RCV005135902] | likely benign | 7 | 124892395 | 124892395 | Human | 2 | name |
| 597973562 | CV3801452 | single nucleotide variant | NM_015450.3(POT1):c.950-6T>C | Tumor predisposition syndrome 3 [RCV005143441] | likely benign | 7 | 124847004 | 124847004 | Human | 2 | name |
| 597976012 | CV3829028 | single nucleotide variant | NM_015450.3(POT1):c.547-8T>C | Tumor predisposition syndrome 3 [RCV005169477] | likely benign | 7 | 124859120 | 124859120 | Human | 2 | name |
| 597961984 | CV3840897 | single nucleotide variant | NM_015450.3(POT1):c.869+6C>G | Tumor predisposition syndrome 3 [RCV005193190] | uncertain significance | 7 | 124852966 | 124852966 | Human | 2 | name |
| 13216416 | CV428665 | single nucleotide variant | NM_015450.3(POT1):c.*1507A>G | not specified [RCV000503734] | uncertain significance | 7 | 124822455 | 124822455 | Human | | name |
| 13497020 | CV457152 | single nucleotide variant | NM_015450.3(POT1):c.124+7A>G | Tumor predisposition syndrome 3 [RCV000538251] | likely benign | 7 | 124892259 | 124892259 | Human | 2 | name , alternate_id |
| 13496847 | CV474503 | single nucleotide variant | NM_015450.3(POT1):c.870-3T>C | Hereditary cancer-predisposing syndrome [RCV000572598]|Tumor predisposition syndrome 3 [RCV001373990] | likely benign|uncertain significance | 7 | 124851954 | 124851954 | Human | 3 | name , alternate_id |
| 13540100 | CV501796 | single nucleotide variant | NM_015450.3(POT1):c.702+8A>T | Tumor predisposition syndrome 3 [RCV002066725]|not provided [RCV004712908]|not specified [RCV000614230] | benign | 7 | 124858949 | 124858949 | Human | 2 | name , alternate_id |
| 13525221 | CV502190 | single nucleotide variant | NM_015450.3(POT1):c.702+9T>G | Tumor predisposition syndrome 3 [RCV002066726]|not provided [RCV004712909]|not specified [RCV000602865] | benign | 7 | 124858948 | 124858948 | Human | 2 | name , alternate_id |
| 13624402 | CV522376 | single nucleotide variant | NM_015450.3(POT1):c.870-7A>G | Tumor predisposition syndrome 3 [RCV000652229] | uncertain significance | 7 | 124851958 | 124851958 | Human | 2 | name , alternate_id |
| 13624385 | CV522497 | single nucleotide variant | NM_015450.3(POT1):c.547-3C>A | Hereditary cancer-predisposing syndrome [RCV002343376]|Tumor predisposition syndrome 3 [RCV000652208]|not provided [RCV001766415]|not specified [RCV001816635] | uncertain significance | 7 | 124859115 | 124859115 | Human | 3 | name , alternate_id |
| 13805869 | CV561282 | single nucleotide variant | NM_015450.3(POT1):c.124+5G>T | Hereditary cancer-predisposing syndrome [RCV003163249]|Tumor predisposition syndrome 3 [RCV000700329] | uncertain significance | 7 | 124892261 | 124892261 | Human | 3 | name , alternate_id |
| 13817864 | CV561370 | single nucleotide variant | NM_015450.3(POT1):c.124+1G>C | Hereditary cancer-predisposing syndrome [RCV004026749]|Tumor predisposition syndrome 3 [RCV000707305]|not provided [RCV001547559] | pathogenic|likely pathogenic|uncertain significance | 7 | 124892265 | 124892265 | Human | 3 | name , alternate_id |
| 14397275 | CV612772 | single nucleotide variant | NM_015450.3(POT1):c.125-2A>G | Hereditary cancer-predisposing syndrome [RCV003166028]|Tumor predisposition syndrome 3 [RCV001869049]|not provided [RCV000762479] | likely pathogenic | 7 | 124871043 | 124871043 | Human | 3 | name , alternate_id |
| 14705694 | CV651657 | single nucleotide variant | NM_015450.3(POT1):c.255+1G>A | Hereditary cancer-predisposing syndrome [RCV002424851]|Tumor predisposition syndrome 3 [RCV000801661] | pathogenic|likely pathogenic|uncertain significance | 7 | 124870910 | 124870910 | Human | 3 | name , alternate_id |
| 14703941 | CV651658 | single nucleotide variant | NM_015450.3(POT1):c.870-9C>A | Tumor predisposition syndrome 3 [RCV000795733] | likely benign|uncertain significance | 7 | 124851960 | 124851960 | Human | 2 | name , alternate_id |
| 14737653 | CV662559 | single nucleotide variant | NM_015450.3(POT1):c.9+179A>G | not provided [RCV000839015] | benign | 7 | 124896986 | 124896986 | Human | | name |
| 15176511 | CV775252 | duplication | NM_015450.3(POT1):c.703-3dup | Hereditary cancer-predisposing syndrome [RCV004944730]|Tumor predisposition syndrome 3 [RCV001456489] | likely benign | 7 | 124853140 | 124853141 | Human | 3 | name |
| 25325772 | CV815371 | single nucleotide variant | NM_015450.3(POT1):c.703-3T>G | Hereditary cancer-predisposing syndrome [RCV001025953]|Tumor predisposition syndrome 3 [RCV003769619] | uncertain significance | 7 | 124853141 | 124853141 | Human | 3 | name |
| 25325750 | CV815372 | single nucleotide variant | NM_015450.3(POT1):c.702+5T>C | Hereditary cancer-predisposing syndrome [RCV001025936]|Tumor predisposition syndrome 3 [RCV001050217] | likely benign|uncertain significance | 7 | 124858952 | 124858952 | Human | 3 | name |
| 25328545 | CV815373 | single nucleotide variant | NM_015450.3(POT1):c.256-3T>C | Hereditary cancer-predisposing syndrome [RCV001015963]|Tumor predisposition syndrome 3 [RCV002551788] | likely benign|uncertain significance | 7 | 124863643 | 124863643 | Human | 3 | name |
| 25328526 | CV815374 | single nucleotide variant | NM_015450.3(POT1):c.255+5A>G | Hereditary cancer-predisposing syndrome [RCV001015925]|Tumor predisposition syndrome 3 [RCV001873267] | uncertain significance | 7 | 124870906 | 124870906 | Human | 3 | name |
| 25323401 | CV815375 | deletion | NM_015450.3(POT1):c.125-3del | Hereditary cancer-predisposing syndrome [RCV001010567]|Tumor predisposition syndrome 3 [RCV002068827] | likely benign|uncertain significance | 7 | 124871044 | 124871044 | Human | 3 | name |
| 26899208 | CV852054 | single nucleotide variant | NM_015450.3(POT1):c.125-3C>A | Tumor predisposition syndrome 3 [RCV001034928] | uncertain significance | 7 | 124871044 | 124871044 | Human | 2 | name |
| 26893023 | CV852324 | single nucleotide variant | NM_015450.3(POT1):c.547-3C>T | Hereditary cancer-predisposing syndrome [RCV002348476]|Tumor predisposition syndrome 3 [RCV001068923] | uncertain significance | 7 | 124859115 | 124859115 | Human | 3 | name |
| 26901939 | CV852329 | single nucleotide variant | NM_015450.3(POT1):c.546+5A>G | Hereditary cancer-predisposing syndrome [RCV002348489]|Tumor predisposition syndrome 3 [RCV001071728] | likely benign|uncertain significance | 7 | 124863345 | 124863345 | Human | 3 | name |
| 38469276 | CV940060 | single nucleotide variant | NM_015450.3(POT1):c.949+5G>A | Hereditary cancer-predisposing syndrome [RCV004033533]|Tumor predisposition syndrome 3 [RCV001202382] | uncertain significance | 7 | 124851867 | 124851867 | Human | 3 | name |
| 38458545 | CV940061 | single nucleotide variant | NM_015450.3(POT1):c.546+1G>A | Tumor predisposition syndrome 3 [RCV001211438] | likely pathogenic|uncertain significance | 7 | 124863349 | 124863349 | Human | 2 | name |
| 38458648 | CV960622 | single nucleotide variant | NM_015450.3(POT1):c.702+4A>G | Tumor predisposition syndrome 3 [RCV001246386]|not provided [RCV004719114] | uncertain significance | 7 | 124858953 | 124858953 | Human | 2 | name |
| 126754852 | CV992006 | single nucleotide variant | NM_015450.3(POT1):c.546+4C>G | Tumor predisposition syndrome 3 [RCV001298221] | uncertain significance | 7 | 124863346 | 124863346 | Human | 2 | name , alternate_id |
| 126726840 | CV992011 | single nucleotide variant | NM_015450.3(POT1):c.255+1G>T | Hereditary cancer-predisposing syndrome [RCV002451679]|Tumor predisposition syndrome 3 [RCV001303012] | pathogenic|likely pathogenic|uncertain significance | 7 | 124870910 | 124870910 | Human | 3 | name , alternate_id |
| 126758640 | CV1027673 | single nucleotide variant | NM_015450.3(POT1):c.1687-4T>C | Hereditary cancer-predisposing syndrome [RCV003294332]|Tumor predisposition syndrome 3 [RCV001339902] | likely benign|uncertain significance | 7 | 124825361 | 124825361 | Human | 3 | name , alternate_id |
| 126771849 | CV1027675 | single nucleotide variant | NM_015450.3(POT1):c.1595-4C>T | Hereditary cancer-predisposing syndrome [RCV004651597]|Tumor predisposition syndrome 3 [RCV001345284] | likely benign|uncertain significance | 7 | 124827309 | 124827309 | Human | 3 | name , alternate_id |
| 127255642 | CV1074352 | single nucleotide variant | NM_015450.3(POT1):c.547-10C>T | Tumor predisposition syndrome 3 [RCV001401065]|not provided [RCV003738063] | likely benign | 7 | 124859122 | 124859122 | Human | 2 | name , alternate_id |
| 127268213 | CV1095959 | single nucleotide variant | NM_015450.3(POT1):c.1595-8T>C | Tumor predisposition syndrome 3 [RCV001429892] | likely benign | 7 | 124827313 | 124827313 | Human | 2 | name , alternate_id |
| 127246874 | CV1095966 | single nucleotide variant | NM_015450.3(POT1):c.1164-9T>C | Tumor predisposition syndrome 3 [RCV001424585] | likely benign | 7 | 124841187 | 124841187 | Human | 2 | name , alternate_id |
| 127250493 | CV1095978 | single nucleotide variant | NM_015450.3(POT1):c.256-10A>G | Tumor predisposition syndrome 3 [RCV001436352] | likely benign | 7 | 124863650 | 124863650 | Human | 2 | name , alternate_id |
| 127332646 | CV1138424 | single nucleotide variant | NM_015450.3(POT1):c.950-10C>A | Tumor predisposition syndrome 3 [RCV001489638] | likely benign | 7 | 124847008 | 124847008 | Human | 2 | name , alternate_id |
| 150412758 | CV1197630 | single nucleotide variant | NM_015450.3(POT1):c.10-117T>C | not provided [RCV001574428] | likely benign | 7 | 124892497 | 124892497 | Human | | name |
| 150421606 | CV1197631 | single nucleotide variant | NM_015450.3(POT1):c.10-316T>A | not provided [RCV001578106] | likely benign | 7 | 124892696 | 124892696 | Human | | name |
| 150498654 | CV1255615 | single nucleotide variant | NM_015450.3(POT1):c.-40+30C>T | not provided [RCV001676403] | benign | 7 | 124898231 | 124898231 | Human | | name |
| 150478634 | CV1271092 | single nucleotide variant | NM_015450.3(POT1):c.10-282G>A | not provided [RCV001696528] | benign | 7 | 124892662 | 124892662 | Human | | name |
| 151755035 | CV1391516 | single nucleotide variant | NM_015450.3(POT1):c.1163+1G>C | Tumor predisposition syndrome 3 [RCV001969583] | likely pathogenic | 7 | 124842806 | 124842806 | Human | 2 | name |
| 151878960 | CV1395482 | single nucleotide variant | NM_015450.3(POT1):c.1506-1G>A | Hereditary cancer-predisposing syndrome [RCV002389015]|Tumor predisposition syndrome 3 [RCV001999284] | likely pathogenic | 7 | 124829343 | 124829343 | Human | 3 | name |
| 151833427 | CV1416562 | single nucleotide variant | NM_015450.3(POT1):c.703-20A>G | Tumor predisposition syndrome 3 [RCV002014532] | likely benign|uncertain significance | 7 | 124853158 | 124853158 | Human | 2 | name |
| 8693179 | CV143165 | single nucleotide variant | NM_015450.3(POT1):c.1687-1G>A | Tumor predisposition syndrome 3 [RCV000128421]|not provided [RCV004691758] | likely pathogenic|risk factor|uncertain significance | 7 | 124825358 | 124825358 | Human | 2 | name |
| 151803987 | CV1444087 | single nucleotide variant | NM_015450.3(POT1):c.1006+7C>G | Tumor predisposition syndrome 3 [RCV001917968] | uncertain significance | 7 | 124846935 | 124846935 | Human | 2 | name |
| 151776252 | CV1450544 | single nucleotide variant | NM_015450.3(POT1):c.1007-8C>G | Tumor predisposition syndrome 3 [RCV001915462] | likely benign|uncertain significance | 7 | 124842971 | 124842971 | Human | 2 | name |
| 151757024 | CV1474899 | single nucleotide variant | NM_015450.3(POT1):c.1793-3T>G | Tumor predisposition syndrome 3 [RCV001969768] | uncertain significance | 7 | 124824077 | 124824077 | Human | 2 | name |
| 151748001 | CV1478741 | single nucleotide variant | NM_015450.3(POT1):c.1595-2A>G | Tumor predisposition syndrome 3 [RCV002023058] | likely pathogenic | 7 | 124827307 | 124827307 | Human | 2 | name |
| 151791026 | CV1489902 | single nucleotide variant | NM_015450.3(POT1):c.1369+5G>A | Tumor predisposition syndrome 3 [RCV001952053]|Tumor predisposition syndrome 3 [RCV005031885] | likely benign|uncertain significance | 7 | 124840968 | 124840968 | Human | 4 | name |
| 151797336 | CV1503809 | single nucleotide variant | NM_015450.3(POT1):c.1006+3A>G | Hereditary cancer-predisposing syndrome [RCV002407224]|Tumor predisposition syndrome 3 [RCV001973592] | uncertain significance | 7 | 124846939 | 124846939 | Human | 3 | name |
| 152108697 | CV1520084 | single nucleotide variant | NM_015450.3(POT1):c.255+11T>C | Tumor predisposition syndrome 3 [RCV002134201] | likely benign | 7 | 124870900 | 124870900 | Human | 2 | name |
| 152083734 | CV1525375 | single nucleotide variant | NM_015450.3(POT1):c.256-12C>T | Tumor predisposition syndrome 3 [RCV002131161] | likely benign | 7 | 124863652 | 124863652 | Human | 2 | name |
| 152088463 | CV1527450 | single nucleotide variant | NM_015450.3(POT1):c.1506-9A>G | Tumor predisposition syndrome 3 [RCV002093839] | likely benign | 7 | 124829351 | 124829351 | Human | 2 | name |
| 152112449 | CV1541804 | single nucleotide variant | NM_015450.3(POT1):c.702+13A>G | Tumor predisposition syndrome 3 [RCV002116729] | likely benign | 7 | 124858944 | 124858944 | Human | 2 | name |
| 152132284 | CV1545129 | single nucleotide variant | NM_015450.3(POT1):c.1006+7C>T | Tumor predisposition syndrome 3 [RCV002119243] | likely benign | 7 | 124846935 | 124846935 | Human | 2 | name |
| 152168059 | CV1547867 | single nucleotide variant | NM_015450.3(POT1):c.124+18T>A | Tumor predisposition syndrome 3 [RCV002161016] | likely benign | 7 | 124892248 | 124892248 | Human | 2 | name |
| 152043659 | CV1552007 | single nucleotide variant | NM_015450.3(POT1):c.125-11G>A | Tumor predisposition syndrome 3 [RCV002166018] | likely benign | 7 | 124871052 | 124871052 | Human | 2 | name |
| 152158422 | CV1552990 | single nucleotide variant | NM_015450.3(POT1):c.870-18G>C | Tumor predisposition syndrome 3 [RCV002180488] | likely benign | 7 | 124851969 | 124851969 | Human | 2 | name |
| 152131262 | CV1553081 | single nucleotide variant | NM_015450.3(POT1):c.869+12G>A | Tumor predisposition syndrome 3 [RCV002199354]|not specified [RCV003321901] | likely benign | 7 | 124852960 | 124852960 | Human | 2 | name |
| 152089920 | CV1563185 | single nucleotide variant | NM_015450.3(POT1):c.869+14A>G | Tumor predisposition syndrome 3 [RCV002113934] | likely benign | 7 | 124852958 | 124852958 | Human | 2 | name |
| 152154814 | CV1563678 | single nucleotide variant | NM_015450.3(POT1):c.255+19A>G | Tumor predisposition syndrome 3 [RCV002202517] | likely benign | 7 | 124870892 | 124870892 | Human | 2 | name |
| 152174714 | CV1567482 | single nucleotide variant | NM_015450.3(POT1):c.949+15T>C | Tumor predisposition syndrome 3 [RCV002163249] | likely benign | 7 | 124851857 | 124851857 | Human | 2 | name |
| 152083408 | CV1569454 | single nucleotide variant | NM_015450.3(POT1):c.1369+8A>G | Tumor predisposition syndrome 3 [RCV002113064] | likely benign | 7 | 124840965 | 124840965 | Human | 2 | name |
| 152053894 | CV1575107 | single nucleotide variant | NM_015450.3(POT1):c.702+14G>A | Tumor predisposition syndrome 3 [RCV002109307] | likely benign | 7 | 124858943 | 124858943 | Human | 2 | name |
| 152129903 | CV1583970 | single nucleotide variant | NM_015450.3(POT1):c.547-15A>C | Tumor predisposition syndrome 3 [RCV002199181] | likely benign | 7 | 124859127 | 124859127 | Human | 2 | name |
| 152161756 | CV1584578 | single nucleotide variant | NM_015450.3(POT1):c.547-11T>C | Tumor predisposition syndrome 3 [RCV002123327] | likely benign | 7 | 124859123 | 124859123 | Human | 2 | name |
| 152079180 | CV1596754 | deletion | NM_015450.3(POT1):c.950-19del | Tumor predisposition syndrome 3 [RCV002092621] | likely benign | 7 | 124847017 | 124847017 | Human | 2 | name |
| 152072382 | CV1597735 | single nucleotide variant | NM_015450.3(POT1):c.870-20T>A | Tumor predisposition syndrome 3 [RCV002169467] | likely benign | 7 | 124851971 | 124851971 | Human | 2 | name |
| 152172094 | CV1597992 | single nucleotide variant | NM_015450.3(POT1):c.870-18G>A | Tumor predisposition syndrome 3 [RCV002162334] | likely benign | 7 | 124851969 | 124851969 | Human | 2 | name |
| 152172549 | CV1599175 | single nucleotide variant | NM_015450.3(POT1):c.1505+8G>T | Tumor predisposition syndrome 3 [RCV002143816] | likely benign | 7 | 124835271 | 124835271 | Human | 2 | name |
| 152036500 | CV1617666 | single nucleotide variant | NM_015450.3(POT1):c.124+18T>C | Tumor predisposition syndrome 3 [RCV002125419] | likely benign | 7 | 124892248 | 124892248 | Human | 2 | name |
| 152061865 | CV1618599 | single nucleotide variant | NM_015450.3(POT1):c.124+15T>C | Tumor predisposition syndrome 3 [RCV002090345] | likely benign | 7 | 124892251 | 124892251 | Human | 2 | name |
| 152096508 | CV1623307 | single nucleotide variant | NM_015450.3(POT1):c.702+11G>T | Tumor predisposition syndrome 3 [RCV002213429] | likely benign | 7 | 124858946 | 124858946 | Human | 2 | name |
| 152074981 | CV1635336 | single nucleotide variant | NM_015450.3(POT1):c.546+17A>C | Tumor predisposition syndrome 3 [RCV002092101] | likely benign | 7 | 124863333 | 124863333 | Human | 2 | name |
| 152161984 | CV1635663 | single nucleotide variant | NM_015450.3(POT1):c.256-15G>A | Tumor predisposition syndrome 3 [RCV002203589] | likely benign | 7 | 124863655 | 124863655 | Human | 2 | name |
| 152150385 | CV1636244 | single nucleotide variant | NM_015450.3(POT1):c.702+16A>G | Tumor predisposition syndrome 3 [RCV002102138] | likely benign | 7 | 124858941 | 124858941 | Human | 2 | name |
| 152074689 | CV1638270 | single nucleotide variant | NM_015450.3(POT1):c.256-16T>C | Tumor predisposition syndrome 3 [RCV002192254] | likely benign | 7 | 124863656 | 124863656 | Human | 2 | name |
| 152115521 | CV1640007 | single nucleotide variant | NM_015450.3(POT1):c.124+14C>T | Tumor predisposition syndrome 3 [RCV002080835] | likely benign | 7 | 124892252 | 124892252 | Human | 2 | name |
| 152123442 | CV1641125 | single nucleotide variant | NM_015450.3(POT1):c.870-13C>G | Tumor predisposition syndrome 3 [RCV002098480]|not provided [RCV003128845] | likely benign|uncertain significance | 7 | 124851964 | 124851964 | Human | 2 | name |
| 152108623 | CV1648315 | single nucleotide variant | NM_015450.3(POT1):c.547-20A>G | Tumor predisposition syndrome 3 [RCV002116251] | likely benign | 7 | 124859132 | 124859132 | Human | 2 | name |
| 152064302 | CV1652272 | single nucleotide variant | NM_015450.3(POT1):c.547-16T>C | Tumor predisposition syndrome 3 [RCV002090670] | likely benign | 7 | 124859128 | 124859128 | Human | 2 | name |
| 152083247 | CV1655076 | single nucleotide variant | NM_015450.3(POT1):c.546+11T>C | Tumor predisposition syndrome 3 [RCV002113043] | likely benign | 7 | 124863339 | 124863339 | Human | 2 | name |
| 152028792 | CV1655401 | single nucleotide variant | NM_015450.3(POT1):c.702+15G>A | Tumor predisposition syndrome 3 [RCV002105360] | likely benign | 7 | 124858942 | 124858942 | Human | 2 | name |
| 152060282 | CV1659517 | single nucleotide variant | NM_015450.3(POT1):c.125-16T>C | Tumor predisposition syndrome 3 [RCV002073592] | likely benign | 7 | 124871057 | 124871057 | Human | 2 | name |
| 152079649 | CV1663460 | single nucleotide variant | NM_015450.3(POT1):c.256-20A>G | Tumor predisposition syndrome 3 [RCV002149138] | likely benign | 7 | 124863660 | 124863660 | Human | 2 | name |
| 153001075 | CV1684317 | single nucleotide variant | NM_015450.3(POT1):c.-153-5T>C | Hereditary cancer-predisposing syndrome [RCV002255788] | uncertain significance | 7 | 124898379 | 124898379 | Human | 1 | name |
| 153001499 | CV1684318 | duplication | NM_015450.3(POT1):c.-153-9dup | Hereditary cancer-predisposing syndrome [RCV002256962] | likely benign | 7 | 124898382 | 124898383 | Human | 1 | name |
| 153302563 | CV1689789 | single nucleotide variant | NM_015450.3(POT1):c.950-40T>C | not specified [RCV002268687] | likely benign | 7 | 124847038 | 124847038 | Human | | name |
| 153302574 | CV1689795 | single nucleotide variant | NM_015450.3(POT1):c.949+40A>G | not specified [RCV002268693] | likely benign | 7 | 124851832 | 124851832 | Human | | name |
| 153302607 | CV1689817 | single nucleotide variant | NM_015450.3(POT1):c.702+30T>C | not specified [RCV002268715] | likely benign | 7 | 124858927 | 124858927 | Human | | name |
| 153302612 | CV1689822 | single nucleotide variant | NM_015450.3(POT1):c.546+44A>C | not specified [RCV002268720] | likely benign | 7 | 124863306 | 124863306 | Human | | name |
| 155733448 | CV1836119 | single nucleotide variant | NM_015450.3(POT1):c.1369+1G>A | Hereditary cancer-predisposing syndrome [RCV002383637] | likely pathogenic | 7 | 124840972 | 124840972 | Human | 1 | name |
| 155733452 | CV1836120 | single nucleotide variant | NM_015450.3(POT1):c.1369+1G>T | Hereditary cancer-predisposing syndrome [RCV002383638] | likely pathogenic | 7 | 124840972 | 124840972 | Human | 1 | name |
| 155723978 | CV1837962 | deletion | NM_015450.3(POT1):c.1687-2del | Hereditary cancer-predisposing syndrome [RCV002406102] | uncertain significance | 7 | 124825359 | 124825359 | Human | 1 | name |
| 155744167 | CV1842960 | single nucleotide variant | NM_015450.3(POT1):c.1006+5G>A | Hereditary cancer-predisposing syndrome [RCV002413141] | uncertain significance | 7 | 124846937 | 124846937 | Human | 1 | name |
| 155799395 | CV1859791 | single nucleotide variant | NM_015450.3(POT1):c.547-38C>T | not specified [RCV002466035] | likely benign | 7 | 124859150 | 124859150 | Human | | name |
| 156232001 | CV1885191 | single nucleotide variant | NM_015450.3(POT1):c.547-17C>G | Tumor predisposition syndrome 3 [RCV003085403] | likely benign | 7 | 124859129 | 124859129 | Human | 2 | name |
| 156416327 | CV1904923 | duplication | NM_015450.3(POT1):c.1370-6dup | Tumor predisposition syndrome 3 [RCV002610113] | likely benign | 7 | 124835419 | 124835420 | Human | 2 | name |
| 156352942 | CV1923733 | single nucleotide variant | NM_015450.3(POT1):c.547-12C>T | Tumor predisposition syndrome 3 [RCV002651035] | likely benign | 7 | 124859124 | 124859124 | Human | 2 | name |
| 156446236 | CV1951273 | single nucleotide variant | NM_015450.3(POT1):c.1793-4G>A | Hereditary cancer-predisposing syndrome [RCV003294634]|Tumor predisposition syndrome 3 [RCV003117206] | likely benign | 7 | 124824078 | 124824078 | Human | 3 | name |
| 156079747 | CV1959806 | single nucleotide variant | NM_015450.3(POT1):c.546+12T>C | Tumor predisposition syndrome 3 [RCV002569870] | likely benign | 7 | 124863338 | 124863338 | Human | 2 | name |
| 156353505 | CV1962195 | single nucleotide variant | NM_015450.3(POT1):c.703-16A>G | Tumor predisposition syndrome 3 [RCV002581226] | likely benign | 7 | 124853154 | 124853154 | Human | 2 | name |
| 156396125 | CV1985161 | single nucleotide variant | NM_015450.3(POT1):c.949+20T>C | Tumor predisposition syndrome 3 [RCV002635497] | likely benign | 7 | 124851852 | 124851852 | Human | 2 | name |
| 156101620 | CV2011618 | single nucleotide variant | NM_015450.3(POT1):c.949+19A>C | Tumor predisposition syndrome 3 [RCV002695328] | likely benign | 7 | 124851853 | 124851853 | Human | 2 | name |
| 156113581 | CV2018656 | single nucleotide variant | NM_015450.3(POT1):c.256-19C>T | Tumor predisposition syndrome 3 [RCV002695764] | likely benign | 7 | 124863659 | 124863659 | Human | 2 | name |
| 155981288 | CV2025202 | single nucleotide variant | NM_015450.3(POT1):c.125-19A>G | Tumor predisposition syndrome 3 [RCV002755338] | uncertain significance | 7 | 124871060 | 124871060 | Human | 2 | name |
| 155920029 | CV2027338 | single nucleotide variant | NM_015450.3(POT1):c.547-12C>G | Tumor predisposition syndrome 3 [RCV002750669] | likely benign|uncertain significance | 7 | 124859124 | 124859124 | Human | 2 | name |
| 156092523 | CV2030676 | single nucleotide variant | NM_015450.3(POT1):c.255+15G>T | Tumor predisposition syndrome 3 [RCV002761001] | likely benign | 7 | 124870896 | 124870896 | Human | 2 | name |
| 156193303 | CV2066472 | single nucleotide variant | NM_015450.3(POT1):c.1163+8T>C | Tumor predisposition syndrome 3 [RCV002828681] | likely benign | 7 | 124842799 | 124842799 | Human | 2 | name |
| 156050535 | CV2068367 | single nucleotide variant | NM_015450.3(POT1):c.1164-3T>G | Tumor predisposition syndrome 3 [RCV002846420] | uncertain significance | 7 | 124841181 | 124841181 | Human | 2 | name |
| 156213577 | CV2074371 | single nucleotide variant | NM_015450.3(POT1):c.547-14C>G | Tumor predisposition syndrome 3 [RCV002829395] | uncertain significance | 7 | 124859126 | 124859126 | Human | 2 | name |
| 156168989 | CV2075441 | single nucleotide variant | NM_015450.3(POT1):c.1594+1G>C | Tumor predisposition syndrome 3 [RCV002851473] | likely pathogenic | 7 | 124829253 | 124829253 | Human | 2 | name |
| 155973467 | CV2079359 | single nucleotide variant | NM_015450.3(POT1):c.1793-6T>C | Tumor predisposition syndrome 3 [RCV002881594] | likely benign | 7 | 124824080 | 124824080 | Human | 2 | name |
| 156211884 | CV2087256 | single nucleotide variant | NM_015450.3(POT1):c.870-14T>A | Tumor predisposition syndrome 3 [RCV002852858] | likely benign | 7 | 124851965 | 124851965 | Human | 2 | name |
| 156258536 | CV2090156 | deletion | NM_015450.3(POT1):c.869+14del | Tumor predisposition syndrome 3 [RCV002877187] | likely benign | 7 | 124852958 | 124852958 | Human | 2 | name |
| 156329691 | CV2094704 | single nucleotide variant | NM_015450.3(POT1):c.124+19G>A | Tumor predisposition syndrome 3 [RCV002899847] | likely benign | 7 | 124892247 | 124892247 | Human | 2 | name |
| 156266543 | CV2097115 | single nucleotide variant | NM_015450.3(POT1):c.1594+2T>C | Tumor predisposition syndrome 3 [RCV002877458] | likely pathogenic | 7 | 124829252 | 124829252 | Human | 2 | name |
| 156239474 | CV2115841 | single nucleotide variant | NM_015450.3(POT1):c.547-13T>G | Tumor predisposition syndrome 3 [RCV002919243] | uncertain significance | 7 | 124859125 | 124859125 | Human | 2 | name |
| 156036194 | CV2124424 | single nucleotide variant | NM_015450.3(POT1):c.1793-9T>A | Tumor predisposition syndrome 3 [RCV002923723] | likely benign | 7 | 124824083 | 124824083 | Human | 2 | name |
| 155946328 | CV2130251 | single nucleotide variant | NM_015450.3(POT1):c.703-14G>C | Tumor predisposition syndrome 3 [RCV002971601] | likely benign | 7 | 124853152 | 124853152 | Human | 2 | name |
| 156347957 | CV2146675 | single nucleotide variant | NM_015450.3(POT1):c.950-17C>T | Tumor predisposition syndrome 3 [RCV003030664] | likely benign | 7 | 124847015 | 124847015 | Human | 2 | name |
| 156125515 | CV2147499 | deletion | NM_015450.3(POT1):c.125-12del | Tumor predisposition syndrome 3 [RCV003021968] | benign | 7 | 124871053 | 124871053 | Human | 2 | name |
| 155907535 | CV2148272 | deletion | NM_015450.3(POT1):c.950-18del | Tumor predisposition syndrome 3 [RCV003012013] | likely benign | 7 | 124847016 | 124847016 | Human | 2 | name |
| 156001159 | CV2149578 | single nucleotide variant | NM_015450.3(POT1):c.255+12A>G | Tumor predisposition syndrome 3 [RCV002997026] | likely benign | 7 | 124870899 | 124870899 | Human | 2 | name |
| 156153500 | CV2150637 | single nucleotide variant | NM_015450.3(POT1):c.950-17C>G | Tumor predisposition syndrome 3 [RCV003022935] | uncertain significance | 7 | 124847015 | 124847015 | Human | 2 | name |
| 155930753 | CV2155844 | single nucleotide variant | NM_015450.3(POT1):c.1370-7T>C | Tumor predisposition syndrome 3 [RCV003013618] | likely benign|uncertain significance | 7 | 124835421 | 124835421 | Human | 2 | name |
| 156321584 | CV2166591 | single nucleotide variant | NM_015450.3(POT1):c.1506-5T>G | Tumor predisposition syndrome 3 [RCV003029201] | uncertain significance | 7 | 124829347 | 124829347 | Human | 2 | name |
| 156268843 | CV2167910 | single nucleotide variant | NM_015450.3(POT1):c.703-18A>G | Tumor predisposition syndrome 3 [RCV003026913] | likely benign | 7 | 124853156 | 124853156 | Human | 2 | name |
| 156212347 | CV2170961 | single nucleotide variant | NM_015450.3(POT1):c.1506-4T>G | Tumor predisposition syndrome 3 [RCV003042380] | likely benign | 7 | 124829346 | 124829346 | Human | 2 | name |
| 156007196 | CV2175611 | single nucleotide variant | NM_015450.3(POT1):c.1595-1G>A | Tumor predisposition syndrome 3 [RCV003035050] | likely pathogenic | 7 | 124827306 | 124827306 | Human | 2 | name |
| 156119712 | CV2183209 | single nucleotide variant | NM_015450.3(POT1):c.702+11G>A | Tumor predisposition syndrome 3 [RCV003039265] | likely benign | 7 | 124858946 | 124858946 | Human | 2 | name |
| 156266807 | CV2189271 | single nucleotide variant | NM_015450.3(POT1):c.1793-7T>G | Tumor predisposition syndrome 3 [RCV003044312] | likely benign | 7 | 124824081 | 124824081 | Human | 2 | name |
| 329370062 | CV2435461 | single nucleotide variant | NM_015450.3(POT1):c.1793-4G>C | Hereditary cancer-predisposing syndrome [RCV003184086] | likely benign | 7 | 124824078 | 124824078 | Human | 1 | name |
| 401795947 | CV2740073 | single nucleotide variant | NM_015450.3(POT1):c.547-46C>A | not specified [RCV003320308] | likely benign | 7 | 124859158 | 124859158 | Human | | name |
| 401798146 | CV2741285 | deletion | NM_015450.3(POT1):c.870-21del | not specified [RCV003322448] | likely benign | 7 | 124851972 | 124851972 | Human | | name |
| 401798148 | CV2741286 | single nucleotide variant | NM_015450.3(POT1):c.869+48G>A | not specified [RCV003322449] | likely benign | 7 | 124852924 | 124852924 | Human | | name |
| 401798168 | CV2741295 | single nucleotide variant | NM_015450.3(POT1):c.546+27A>G | not specified [RCV003322458] | uncertain significance | 7 | 124863323 | 124863323 | Human | | name |
| 401899675 | CV2758024 | single nucleotide variant | NM_015450.3(POT1):c.1594+3T>C | Hereditary cancer-predisposing syndrome [RCV003377996]|Tumor predisposition syndrome 3 [RCV003585386] | uncertain significance | 7 | 124829251 | 124829251 | Human | 3 | name |
| 405008868 | CV2853135 | single nucleotide variant | NM_015450.3(POT1):c.702+12T>A | not specified [RCV003494329] | likely benign | 7 | 124858945 | 124858945 | Human | | name |
| 405149015 | CV2855704 | duplication | NM_015450.3(POT1):c.1006+8dup | Tumor predisposition syndrome 3 [RCV003585479] | likely benign | 7 | 124846933 | 124846934 | Human | 2 | name |
| 405149228 | CV2862725 | single nucleotide variant | NM_015450.3(POT1):c.546+20G>A | Tumor predisposition syndrome 3 [RCV003585499] | likely benign | 7 | 124863330 | 124863330 | Human | 2 | name |
| 405150243 | CV2880451 | single nucleotide variant | NM_015450.3(POT1):c.1370-9T>C | Tumor predisposition syndrome 3 [RCV003585588] | uncertain significance | 7 | 124835423 | 124835423 | Human | 2 | name |
| 405139901 | CV2885359 | single nucleotide variant | NM_015450.3(POT1):c.869+13T>C | Tumor predisposition syndrome 3 [RCV003584033] | likely benign | 7 | 124852959 | 124852959 | Human | 2 | name |
| 405140501 | CV2886304 | single nucleotide variant | NM_015450.3(POT1):c.949+14T>G | Tumor predisposition syndrome 3 [RCV003584068] | likely benign | 7 | 124851858 | 124851858 | Human | 2 | name |
| 405140696 | CV2889910 | single nucleotide variant | NM_015450.3(POT1):c.547-16T>A | Tumor predisposition syndrome 3 [RCV003584085] | likely benign | 7 | 124859128 | 124859128 | Human | 2 | name |
| 405139866 | CV2892073 | single nucleotide variant | NM_015450.3(POT1):c.703-19C>G | Tumor predisposition syndrome 3 [RCV003584029] | likely benign | 7 | 124853157 | 124853157 | Human | 2 | name |
| 405140989 | CV2894381 | single nucleotide variant | NM_015450.3(POT1):c.869+20A>G | Tumor predisposition syndrome 3 [RCV003584113] | likely benign | 7 | 124852952 | 124852952 | Human | 2 | name |
| 405142460 | CV2910473 | single nucleotide variant | NM_015450.3(POT1):c.703-12T>C | Tumor predisposition syndrome 3 [RCV003584292] | likely benign | 7 | 124853150 | 124853150 | Human | 2 | name |
| 405143921 | CV2912469 | single nucleotide variant | NM_015450.3(POT1):c.1506-8A>G | Tumor predisposition syndrome 3 [RCV003584217] | uncertain significance | 7 | 124829350 | 124829350 | Human | 2 | name |
| 405142549 | CV2918038 | single nucleotide variant | NM_015450.3(POT1):c.1792+5G>T | Hereditary cancer-predisposing syndrome [RCV004943116]|Tumor predisposition syndrome 3 [RCV003584301] | likely benign|uncertain significance | 7 | 124825247 | 124825247 | Human | 3 | name |
| 405143964 | CV2920953 | single nucleotide variant | NM_015450.3(POT1):c.1505+2T>C | Tumor predisposition syndrome 3 [RCV003584287] | likely pathogenic | 7 | 124835277 | 124835277 | Human | 2 | name |
| 405248360 | CV2938374 | single nucleotide variant | NM_015450.3(POT1):c.870-13C>A | Tumor predisposition syndrome 3 [RCV003746750] | likely benign | 7 | 124851964 | 124851964 | Human | 2 | name |
| 405248724 | CV2956413 | single nucleotide variant | NM_015450.3(POT1):c.547-15A>G | Tumor predisposition syndrome 3 [RCV003746890] | likely benign | 7 | 124859127 | 124859127 | Human | 2 | name |
| 405249051 | CV2965348 | single nucleotide variant | NM_015450.3(POT1):c.547-14C>A | Tumor predisposition syndrome 3 [RCV003746972] | likely benign | 7 | 124859126 | 124859126 | Human | 2 | name |
| 405249301 | CV2980693 | single nucleotide variant | NM_015450.3(POT1):c.124+18T>G | Tumor predisposition syndrome 3 [RCV003747054] | likely benign | 7 | 124892248 | 124892248 | Human | 2 | name |
| 405249486 | CV2982198 | single nucleotide variant | NM_015450.3(POT1):c.1164-6T>C | Tumor predisposition syndrome 3 [RCV003747147] | likely benign | 7 | 124841184 | 124841184 | Human | 2 | name |
| 405249613 | CV2983618 | single nucleotide variant | NM_015450.3(POT1):c.1505+7T>C | Tumor predisposition syndrome 3 [RCV003747201] | likely benign | 7 | 124835272 | 124835272 | Human | 2 | name |
| 405249607 | CV2990239 | single nucleotide variant | NM_015450.3(POT1):c.702+10A>G | Tumor predisposition syndrome 3 [RCV003747198] | uncertain significance | 7 | 124858947 | 124858947 | Human | 2 | name |
| 405250002 | CV2990315 | single nucleotide variant | NM_015450.3(POT1):c.1793-5T>C | Hereditary cancer-predisposing syndrome [RCV004943161]|Tumor predisposition syndrome 3 [RCV003747214] | likely benign|uncertain significance | 7 | 124824079 | 124824079 | Human | 3 | name |
| 405250066 | CV3005025 | single nucleotide variant | NM_015450.3(POT1):c.1163+6T>C | Tumor predisposition syndrome 3 [RCV003747392] | uncertain significance | 7 | 124842801 | 124842801 | Human | 2 | name |
| 405246679 | CV3007074 | deletion | NM_015450.3(POT1):c.869+17del | Tumor predisposition syndrome 3 [RCV003746075] | likely benign | 7 | 124852955 | 124852955 | Human | 2 | name |
| 405250045 | CV3008487 | single nucleotide variant | NM_015450.3(POT1):c.869+19G>C | Tumor predisposition syndrome 3 [RCV003747383] | likely benign | 7 | 124852953 | 124852953 | Human | 2 | name |
| 405246624 | CV3013446 | single nucleotide variant | NM_015450.3(POT1):c.546+18C>G | Tumor predisposition syndrome 3 [RCV003746057] | likely benign | 7 | 124863332 | 124863332 | Human | 2 | name |
| 405247247 | CV3038203 | single nucleotide variant | NM_015450.3(POT1):c.1369+9T>C | Tumor predisposition syndrome 3 [RCV003746297] | likely benign | 7 | 124840964 | 124840964 | Human | 2 | name |
| 405250618 | CV3076498 | single nucleotide variant | NM_015450.3(POT1):c.256-11T>C | Tumor predisposition syndrome 3 [RCV003747604] | likely benign | 7 | 124863651 | 124863651 | Human | 2 | name |
| 405250675 | CV3080620 | single nucleotide variant | NM_015450.3(POT1):c.869+20A>C | Tumor predisposition syndrome 3 [RCV003747651] | likely benign | 7 | 124852952 | 124852952 | Human | 2 | name |
| 405070776 | CV3145340 | single nucleotide variant | NM_015450.3(POT1):c.1370-4A>G | Hereditary cancer-predisposing syndrome [RCV004654366]|Tumor predisposition syndrome 3 [RCV003850925] | uncertain significance | 7 | 124835418 | 124835418 | Human | 3 | name |
| 405168611 | CV3149860 | duplication | NM_015450.3(POT1):c.1686+6dup | Tumor predisposition syndrome 3 [RCV003841331] | likely benign | 7 | 124827207 | 124827208 | Human | 2 | name |
| 405211687 | CV3173501 | single nucleotide variant | NM_015450.3(POT1):c.255+15G>A | Tumor predisposition syndrome 3 [RCV003862250] | likely benign | 7 | 124870896 | 124870896 | Human | 2 | name |
| 405706757 | CV3384082 | single nucleotide variant | NM_015450.3(POT1):c.1006+1G>A | Hereditary cancer-predisposing syndrome [RCV004521827] | uncertain significance | 7 | 124846941 | 124846941 | Human | 1 | name |
| 405706775 | CV3384084 | single nucleotide variant | NM_015450.3(POT1):c.10-392A>G | Hereditary cancer-predisposing syndrome [RCV004521829] | uncertain significance | 7 | 124892772 | 124892772 | Human | 1 | name |
| 405706856 | CV3384095 | single nucleotide variant | NM_015450.3(POT1):c.1506-1G>T | Hereditary cancer-predisposing syndrome [RCV004521840] | likely pathogenic | 7 | 124829343 | 124829343 | Human | 1 | name |
| 405707281 | CV3384099 | single nucleotide variant | NM_015450.3(POT1):c.1594+1G>T | Hereditary cancer-predisposing syndrome [RCV004521844] | likely pathogenic | 7 | 124829253 | 124829253 | Human | 1 | name |
| 407525203 | CV3471190 | single nucleotide variant | NM_015450.3(POT1):c.1792+3A>G | Hereditary cancer-predisposing syndrome [RCV004654012] | uncertain significance | 7 | 124825249 | 124825249 | Human | 1 | name |
| 597662749 | CV3580868 | deletion | NM_015450.3(POT1):c.1505+1del | Hereditary cancer-predisposing syndrome [RCV004946554] | likely pathogenic | 7 | 124835278 | 124835278 | Human | 1 | name |
| 597969303 | CV3761285 | single nucleotide variant | NM_015450.3(POT1):c.1506-9A>T | Tumor predisposition syndrome 3 [RCV005083672] | likely benign | 7 | 124829351 | 124829351 | Human | 2 | name |
| 597952106 | CV3765557 | single nucleotide variant | NM_015450.3(POT1):c.1164-5T>A | Tumor predisposition syndrome 3 [RCV005121201] | uncertain significance | 7 | 124841183 | 124841183 | Human | 2 | name |
| 597950783 | CV3768720 | single nucleotide variant | NM_015450.3(POT1):c.949+12C>G | Tumor predisposition syndrome 3 [RCV005120906] | likely benign | 7 | 124851860 | 124851860 | Human | 2 | name |
| 597947937 | CV3771794 | single nucleotide variant | NM_015450.3(POT1):c.1595-2A>T | Tumor predisposition syndrome 3 [RCV005120320] | likely pathogenic | 7 | 124827307 | 124827307 | Human | 2 | name |
| 597905743 | CV3772980 | single nucleotide variant | NM_015450.3(POT1):c.546+18C>A | Tumor predisposition syndrome 3 [RCV005113044] | likely benign | 7 | 124863332 | 124863332 | Human | 2 | name |
| 597926913 | CV3778555 | single nucleotide variant | NM_015450.3(POT1):c.125-18T>C | Tumor predisposition syndrome 3 [RCV005131078] | likely benign | 7 | 124871059 | 124871059 | Human | 2 | name |
| 597932949 | CV3780839 | single nucleotide variant | NM_015450.3(POT1):c.869+11A>C | Tumor predisposition syndrome 3 [RCV005116951] | likely benign | 7 | 124852961 | 124852961 | Human | 2 | name |
| 597910367 | CV3782124 | single nucleotide variant | NM_015450.3(POT1):c.124+20G>T | Tumor predisposition syndrome 3 [RCV005128616] | likely benign | 7 | 124892246 | 124892246 | Human | 2 | name |
| 597945763 | CV3786984 | single nucleotide variant | NM_015450.3(POT1):c.1007-7T>C | Tumor predisposition syndrome 3 [RCV005119804] | likely benign | 7 | 124842970 | 124842970 | Human | 2 | name |
| 597918511 | CV3789746 | single nucleotide variant | NM_015450.3(POT1):c.125-14T>A | Tumor predisposition syndrome 3 [RCV005129841] | likely benign | 7 | 124871055 | 124871055 | Human | 2 | name |
| 597934695 | CV3793630 | single nucleotide variant | NM_015450.3(POT1):c.1164-5T>C | Tumor predisposition syndrome 3 [RCV005132286] | uncertain significance | 7 | 124841183 | 124841183 | Human | 2 | name |
| 597947550 | CV3800726 | single nucleotide variant | NM_015450.3(POT1):c.1792+4G>A | Tumor predisposition syndrome 3 [RCV005135126] | likely benign | 7 | 124825248 | 124825248 | Human | 2 | name |
| 597905469 | CV3803921 | single nucleotide variant | NM_015450.3(POT1):c.1163+9T>C | Tumor predisposition syndrome 3 [RCV005153466] | likely benign | 7 | 124842798 | 124842798 | Human | 2 | name |
| 597878433 | CV3813685 | single nucleotide variant | NM_015450.3(POT1):c.949+19A>G | Tumor predisposition syndrome 3 [RCV005149427] | likely benign | 7 | 124851853 | 124851853 | Human | 2 | name |
| 597853290 | CV3825159 | single nucleotide variant | NM_015450.3(POT1):c.125-17A>G | Tumor predisposition syndrome 3 [RCV005174007] | likely benign | 7 | 124871058 | 124871058 | Human | 2 | name |
| 597911346 | CV3826119 | single nucleotide variant | NM_015450.3(POT1):c.1006+1G>T | Tumor predisposition syndrome 3 [RCV005182855] | likely pathogenic | 7 | 124846941 | 124846941 | Human | 2 | name |
| 597910276 | CV3830169 | single nucleotide variant | NM_015450.3(POT1):c.1369+9T>A | Tumor predisposition syndrome 3 [RCV005182739] | likely benign | 7 | 124840964 | 124840964 | Human | 2 | name |
| 597916582 | CV3845812 | single nucleotide variant | NM_015450.3(POT1):c.256-14C>A | Tumor predisposition syndrome 3 [RCV005183607] | likely benign | 7 | 124863654 | 124863654 | Human | 2 | name |
| 597916937 | CV3851676 | single nucleotide variant | NM_015450.3(POT1):c.1793-2A>G | Tumor predisposition syndrome 3 [RCV005204437] | uncertain significance | 7 | 124824076 | 124824076 | Human | 2 | name |
| 597937238 | CV3862666 | single nucleotide variant | NM_015450.3(POT1):c.256-12C>G | Tumor predisposition syndrome 3 [RCV005207938] | likely benign | 7 | 124863652 | 124863652 | Human | 2 | name |
| 598125472 | CV3881617 | single nucleotide variant | NM_015450.3(POT1):c.950-18G>A | not specified [RCV005232523] | likely benign | 7 | 124847016 | 124847016 | Human | | name |
| 598125473 | CV3881618 | single nucleotide variant | NM_015450.3(POT1):c.869+47C>T | not specified [RCV005232524] | likely benign | 7 | 124852925 | 124852925 | Human | | name |
| 598125474 | CV3881619 | single nucleotide variant | NM_015450.3(POT1):c.256-36T>C | not specified [RCV005232525] | likely benign | 7 | 124863676 | 124863676 | Human | | name |
| 598245579 | CV3896448 | single nucleotide variant | NM_015450.3(POT1):c.870-15T>G | Tumor predisposition syndrome 3 [RCV005365820] | uncertain significance | 7 | 124851966 | 124851966 | Human | 2 | name |
| 13213811 | CV428668 | single nucleotide variant | NM_015450.3(POT1):c.1164-7A>C | Tumor predisposition syndrome 3 [RCV002060139]|not specified [RCV000500357] | likely benign|uncertain significance | 7 | 124841185 | 124841185 | Human | 2 | name , alternate_id |
| 13480886 | CV456120 | single nucleotide variant | NM_015450.3(POT1):c.1687-9A>G | Tumor predisposition syndrome 3 [RCV001469711] | likely benign | 7 | 124825366 | 124825366 | Human | 2 | name , alternate_id |
| 13466364 | CV456405 | single nucleotide variant | NM_015450.3(POT1):c.1164-1G>A | Hereditary cancer-predisposing syndrome [RCV001010069]|Long telomere syndrome [RCV003329304]|Tumor predisposition syndrome 3 [RCV000543378]|not provided [RCV001821623] | pathogenic|likely pathogenic|uncertain significance | 7 | 124841179 | 124841179 | Human | 3 | name , alternate_id |
| 13468201 | CV456696 | single nucleotide variant | NM_015450.3(POT1):c.1687-5T>A | Hereditary cancer-predisposing syndrome [RCV000562242]|POT1-related disorder [RCV003935530]|Tumor predisposition syndrome 3 [RCV000554846]|not provided [RCV001704683]|not specified [RCV001821628] | benign|likely benign | 7 | 124825362 | 124825362 | Human | 3 | name , alternate_id |
| 13499658 | CV457041 | single nucleotide variant | NM_015450.3(POT1):c.1686+4A>G | Hereditary cancer-predisposing syndrome [RCV002404556]|Tumor predisposition syndrome 3 [RCV000539955]|not provided [RCV003153728] | uncertain significance | 7 | 124827210 | 124827210 | Human | 3 | name , alternate_id |
| 13495145 | CV457043 | single nucleotide variant | NM_015450.3(POT1):c.1595-5A>G | Tumor predisposition syndrome 3 [RCV000536921] | likely benign | 7 | 124827310 | 124827310 | Human | 2 | name , alternate_id |
| 13490233 | CV457141 | single nucleotide variant | NM_015450.3(POT1):c.256-10A>T | Tumor predisposition syndrome 3 [RCV001502701] | likely benign | 7 | 124863650 | 124863650 | Human | 2 | name , alternate_id |
| 13624380 | CV522364 | single nucleotide variant | NM_015450.3(POT1):c.1687-5T>G | Tumor predisposition syndrome 3 [RCV000652202] | likely benign|uncertain significance | 7 | 124825362 | 124825362 | Human | 2 | name , alternate_id |
| 13624446 | CV522466 | single nucleotide variant | NM_015450.3(POT1):c.1007-8C>T | POT1-related disorder [RCV003918071]|Tumor predisposition syndrome 3 [RCV000652237]|not provided [RCV001731845] | likely benign|conflicting interpretations of pathogenicity | 7 | 124842971 | 124842971 | Human | 2 | name , alternate_id |
| 13624484 | CV522851 | single nucleotide variant | NM_015450.3(POT1):c.1006+9A>G | Tumor predisposition syndrome 3 [RCV000652251]|not specified [RCV005231240] | likely benign | 7 | 124846933 | 124846933 | Human | 2 | name , alternate_id |
| 13821640 | CV561255 | single nucleotide variant | NM_015450.3(POT1):c.1163+1G>A | Hereditary cancer-predisposing syndrome [RCV002325396]|Tumor predisposition syndrome 3 [RCV000696191]|not provided [RCV003478425] | likely pathogenic|uncertain significance | 7 | 124842806 | 124842806 | Human | 3 | name , alternate_id |
| 13809420 | CV561329 | single nucleotide variant | NM_015450.3(POT1):c.1792+1G>T | Hereditary cancer-predisposing syndrome [RCV004944089]|Tumor predisposition syndrome 3 [RCV000687760] | likely pathogenic|uncertain significance | 7 | 124825251 | 124825251 | Human | 3 | name , alternate_id |
| 13817571 | CV563988 | single nucleotide variant | NM_015450.3(POT1):c.1505+3A>G | Hereditary cancer-predisposing syndrome [RCV001011940]|Tumor predisposition syndrome 3 [RCV000693110]|Tumor predisposition syndrome 3 [RCV005034303]|not provided [RCV002510958] | uncertain significance | 7 | 124835276 | 124835276 | Human | 5 | name , alternate_id |
| 14708979 | CV651651 | single nucleotide variant | NM_015450.3(POT1):c.1594+6C>T | Tumor predisposition syndrome 3 [RCV000810798] | likely benign|uncertain significance | 7 | 124829248 | 124829248 | Human | 2 | name , alternate_id |
| 14711691 | CV651653 | single nucleotide variant | NM_015450.3(POT1):c.1369+6A>C | Tumor predisposition syndrome 3 [RCV000818540] | likely benign|uncertain significance | 7 | 124840967 | 124840967 | Human | 2 | name , alternate_id |
| 14712241 | CV651655 | single nucleotide variant | NM_015450.3(POT1):c.1163+5G>A | Hereditary cancer-predisposing syndrome [RCV005260441]|Tumor predisposition syndrome 3 [RCV000820057] | uncertain significance | 7 | 124842802 | 124842802 | Human | 3 | name , alternate_id |
| 14704827 | CV651704 | single nucleotide variant | NM_015450.3(POT1):c.1007-1G>A | Hereditary cancer-predisposing syndrome [RCV001016970]|Tumor predisposition syndrome 3 [RCV000798793] | likely pathogenic|uncertain significance | 7 | 124842964 | 124842964 | Human | 3 | name , alternate_id |
| 14737672 | CV662604 | single nucleotide variant | NM_015450.3(POT1):c.256-64G>A | not provided [RCV000839023] | likely benign | 7 | 124863704 | 124863704 | Human | | name |
| 14732233 | CV662629 | single nucleotide variant | NM_015450.3(POT1):c.870-33A>G | not provided [RCV000836487] | benign | 7 | 124851984 | 124851984 | Human | | name |
| 14709714 | CV662637 | deletion | NM_015450.3(POT1):c.-153-9del | Hereditary cancer-predisposing syndrome [RCV002255545]|not provided [RCV000838485] | benign | 7 | 124898383 | 124898383 | Human | 1 | name |
| 15147534 | CV695343 | single nucleotide variant | NM_015450.3(POT1):c.949+10A>G | Tumor predisposition syndrome 3 [RCV000878773] | likely benign | 7 | 124851862 | 124851862 | Human | 2 | name |
| 15132310 | CV759513 | single nucleotide variant | NM_015450.3(POT1):c.1686+7A>G | Tumor predisposition syndrome 3 [RCV001432361] | likely benign | 7 | 124827207 | 124827207 | Human | 2 | name |
| 15199776 | CV759542 | single nucleotide variant | NM_015450.3(POT1):c.1505+8G>A | Tumor predisposition syndrome 3 [RCV000912649]|not provided [RCV003432905]|not specified [RCV002268351] | likely benign | 7 | 124835271 | 124835271 | Human | 2 | name |
| 15106670 | CV775124 | single nucleotide variant | NM_015450.3(POT1):c.1370-8C>T | Tumor predisposition syndrome 3 [RCV001505435] | likely benign | 7 | 124835422 | 124835422 | Human | 2 | name |
| 15186758 | CV775283 | single nucleotide variant | NM_015450.3(POT1):c.1007-4A>G | Tumor predisposition syndrome 3 [RCV001491459] | likely benign | 7 | 124842967 | 124842967 | Human | 2 | name |
| 15144606 | CV775324 | single nucleotide variant | NM_015450.3(POT1):c.1594+7T>G | Tumor predisposition syndrome 3 [RCV001501887] | likely benign | 7 | 124829247 | 124829247 | Human | 2 | name |
| 15158393 | CV777620 | single nucleotide variant | NM_015450.3(POT1):c.950-10C>T | Tumor predisposition syndrome 3 [RCV005092907] | likely benign | 7 | 124847008 | 124847008 | Human | 2 | name |
| 25324173 | CV815367 | single nucleotide variant | NM_015450.3(POT1):c.1370-3C>G | Hereditary cancer-predisposing syndrome [RCV001011184]|Tumor predisposition syndrome 3 [RCV002550761] | uncertain significance | 7 | 124835417 | 124835417 | Human | 3 | name |
| 25322625 | CV815368 | single nucleotide variant | NM_015450.3(POT1):c.1164-4T>G | Hereditary cancer-predisposing syndrome [RCV001010070]|Tumor predisposition syndrome 3 [RCV001373821] | likely benign|uncertain significance | 7 | 124841182 | 124841182 | Human | 3 | name |
| 25321716 | CV815370 | single nucleotide variant | NM_015450.3(POT1):c.1007-5T>C | Hereditary cancer-predisposing syndrome [RCV001009672]|Tumor predisposition syndrome 3 [RCV001206686] | likely benign|uncertain significance | 7 | 124842968 | 124842968 | Human | 3 | name |
| 26913017 | CV851618 | single nucleotide variant | NM_015450.3(POT1):c.1686+6T>G | Tumor predisposition syndrome 3 [RCV001039766] | uncertain significance | 7 | 124827208 | 124827208 | Human | 2 | name |
| 26922348 | CV851620 | single nucleotide variant | NM_015450.3(POT1):c.1686+3A>C | Tumor predisposition syndrome 3 [RCV001061907] | uncertain significance | 7 | 124827211 | 124827211 | Human | 2 | name |
| 26923582 | CV851624 | single nucleotide variant | NM_015450.3(POT1):c.1007-8C>A | Tumor predisposition syndrome 3 [RCV001064260] | likely benign|uncertain significance | 7 | 124842971 | 124842971 | Human | 2 | name |
| 26888368 | CV852052 | single nucleotide variant | NM_015450.3(POT1):c.1594+1G>A | Tumor predisposition syndrome 3 [RCV001045255] | likely pathogenic|uncertain significance | 7 | 124829253 | 124829253 | Human | 2 | name |
| 26919531 | CV852323 | single nucleotide variant | NM_015450.3(POT1):c.1369+6A>G | Tumor predisposition syndrome 3 [RCV001059064]|not provided [RCV003478684] | uncertain significance | 7 | 124840967 | 124840967 | Human | 2 | name |
| 38489214 | CV940058 | single nucleotide variant | NM_015450.3(POT1):c.1164-3T>C | Hereditary cancer-predisposing syndrome [RCV002322026]|Tumor predisposition syndrome 3 [RCV001210107] | likely benign|uncertain significance | 7 | 124841181 | 124841181 | Human | 3 | name |
| 38471382 | CV940059 | single nucleotide variant | NM_015450.3(POT1):c.1006+2T>C | Hereditary cancer-predisposing syndrome [RCV003294029]|Tumor predisposition syndrome 3 [RCV001213762]|not provided [RCV004720795] | likely pathogenic|uncertain significance | 7 | 124846940 | 124846940 | Human | 3 | name |
| 38485046 | CV940868 | single nucleotide variant | NM_015450.3(POT1):c.1687-6T>G | Tumor predisposition syndrome 3 [RCV001219699] | likely benign|uncertain significance | 7 | 124825363 | 124825363 | Human | 2 | name |
| 38474784 | CV959829 | single nucleotide variant | NM_015450.3(POT1):c.1792+1G>A | Hereditary cancer-predisposing syndrome [RCV002402726]|Tumor predisposition syndrome 3 [RCV001232089]|not provided [RCV004727017] | likely pathogenic|uncertain significance | 7 | 124825251 | 124825251 | Human | 3 | name |
| 38480505 | CV959830 | single nucleotide variant | NM_015450.3(POT1):c.1006+4A>G | Tumor predisposition syndrome 3 [RCV001234737] | uncertain significance | 7 | 124846938 | 124846938 | Human | 2 | name |
| 38492857 | CV960623 | single nucleotide variant | NM_015450.3(POT1):c.547-10C>G | Tumor predisposition syndrome 3 [RCV001240330] | uncertain significance | 7 | 124859122 | 124859122 | Human | 2 | name |
| 126756812 | CV991992 | single nucleotide variant | NM_015450.3(POT1):c.1594+4A>G | Tumor predisposition syndrome 3 [RCV001298694] | uncertain significance | 7 | 124829250 | 124829250 | Human | 2 | name , alternate_id |
| 127254714 | CV1095960 | single nucleotide variant | NM_015450.3(POT1):c.1595-10C>T | Tumor predisposition syndrome 3 [RCV001426360] | likely benign | 7 | 124827315 | 124827315 | Human | 2 | name , alternate_id |
| 127278439 | CV1095961 | single nucleotide variant | NM_015450.3(POT1):c.1595-10C>G | Tumor predisposition syndrome 3 [RCV001445074] | likely benign | 7 | 124827315 | 124827315 | Human | 2 | name , alternate_id |
| 150425322 | CV1183924 | single nucleotide variant | NM_015450.3(POT1):c.703-262A>G | not provided [RCV001557851] | likely benign | 7 | 124853400 | 124853400 | Human | | name |
| 150423747 | CV1183925 | single nucleotide variant | NM_015450.3(POT1):c.-39-168T>C | not provided [RCV001555741] | likely benign | 7 | 124897380 | 124897380 | Human | | name |
| 150426550 | CV1187185 | single nucleotide variant | NM_015450.3(POT1):c.125-277G>A | not provided [RCV001559719] | likely benign | 7 | 124871318 | 124871318 | Human | | name |
| 150404846 | CV1193880 | single nucleotide variant | NM_015450.3(POT1):c.1793-25G>A | not provided [RCV001571363]|not specified [RCV002268517] | benign|likely benign | 7 | 124824099 | 124824099 | Human | | name |
| 150420329 | CV1193881 | single nucleotide variant | NM_015450.3(POT1):c.124+175T>C | not provided [RCV001570071] | likely benign | 7 | 124892091 | 124892091 | Human | | name |
| 150421780 | CV1193882 | single nucleotide variant | NM_015450.3(POT1):c.-227+36C>G | not provided [RCV001570687] | likely benign | 7 | 124928779 | 124928779 | Human | | name |
| 150412601 | CV1197628 | single nucleotide variant | NM_015450.3(POT1):c.1792+50A>G | not provided [RCV001574391]|not specified [RCV002268521] | benign|likely benign | 7 | 124825202 | 124825202 | Human | | name |
| 150444879 | CV1215398 | single nucleotide variant | NM_015450.3(POT1):c.869+263T>C | not provided [RCV001610991] | benign | 7 | 124852709 | 124852709 | Human | | name |
| 150516882 | CV1227321 | deletion | NM_015450.3(POT1):c.-39-182del | not provided [RCV001639421] | benign | 7 | 124897394 | 124897394 | Human | | name |
| 150441870 | CV1233611 | single nucleotide variant | NM_015450.3(POT1):c.547-236G>C | not provided [RCV001645299] | benign | 7 | 124859348 | 124859348 | Human | | name |
| 150483597 | CV1245137 | single nucleotide variant | NM_015450.3(POT1):c.546+215T>C | not provided [RCV001653314] | benign | 7 | 124863135 | 124863135 | Human | | name |
| 150462701 | CV1263698 | single nucleotide variant | NM_015450.3(POT1):c.256-299A>G | not provided [RCV001682399] | benign | 7 | 124863939 | 124863939 | Human | | name |
| 150442774 | CV1264490 | single nucleotide variant | NM_015450.3(POT1):c.950-257T>C | not provided [RCV001679473] | benign | 7 | 124847255 | 124847255 | Human | | name |
| 150454766 | CV1266067 | single nucleotide variant | NM_015450.3(POT1):c.702+304G>C | not provided [RCV001692644] | benign | 7 | 124858653 | 124858653 | Human | | name |
| 150458442 | CV1269636 | single nucleotide variant | NM_015450.3(POT1):c.546+292A>G | not provided [RCV001693176] | benign | 7 | 124863058 | 124863058 | Human | | name |
| 150450648 | CV1272409 | single nucleotide variant | NM_015450.3(POT1):c.547-314T>G | not provided [RCV001691890] | benign | 7 | 124859426 | 124859426 | Human | | name |
| 150445873 | CV1278225 | single nucleotide variant | NM_015450.3(POT1):c.950-258C>T | not provided [RCV001707368] | benign | 7 | 124847256 | 124847256 | Human | 1 | name |
| 150445873 | CV1278225 | single nucleotide variant | NM_015450.3(POT1):c.950-258C>T | not provided [RCV001707368] | benign | 7 | 124847256 | 124847257 | Human | 1 | name |
| 150481057 | CV1279650 | single nucleotide variant | NM_015450.3(POT1):c.256-126T>A | not provided [RCV001714770] | benign | 7 | 124863766 | 124863766 | Human | | name |
| 151821537 | CV1354954 | single nucleotide variant | NM_015450.3(POT1):c.1007-16T>G | Tumor predisposition syndrome 3 [RCV001934191] | uncertain significance | 7 | 124842979 | 124842979 | Human | 2 | name |
| 151804350 | CV1424799 | single nucleotide variant | NM_015450.3(POT1):c.1163+17A>G | Tumor predisposition syndrome 3 [RCV001867415] | likely benign|uncertain significance | 7 | 124842790 | 124842790 | Human | 2 | name |
| 152142063 | CV1526611 | single nucleotide variant | NM_015450.3(POT1):c.1164-17A>G | Tumor predisposition syndrome 3 [RCV002084289] | likely benign | 7 | 124841195 | 124841195 | Human | 2 | name |
| 152117785 | CV1538945 | deletion | NM_015450.3(POT1):c.1793-17del | Tumor predisposition syndrome 3 [RCV002175165] | benign | 7 | 124824091 | 124824091 | Human | 2 | name |
| 152158102 | CV1541921 | single nucleotide variant | NM_015450.3(POT1):c.1687-19C>G | Tumor predisposition syndrome 3 [RCV002103262] | likely benign | 7 | 124825376 | 124825376 | Human | 2 | name |
| 152146159 | CV1543378 | single nucleotide variant | NM_015450.3(POT1):c.1793-12T>C | Tumor predisposition syndrome 3 [RCV002178752] | likely benign | 7 | 124824086 | 124824086 | Human | 2 | name |
| 152120079 | CV1547327 | single nucleotide variant | NM_015450.3(POT1):c.1792+18A>G | Tumor predisposition syndrome 3 [RCV002081432] | likely benign | 7 | 124825234 | 124825234 | Human | 2 | name |
| 152114063 | CV1559258 | single nucleotide variant | NM_015450.3(POT1):c.1370-13A>G | Tumor predisposition syndrome 3 [RCV002174695] | likely benign | 7 | 124835427 | 124835427 | Human | 2 | name |
| 152077646 | CV1560893 | deletion | NM_015450.3(POT1):c.1595-11del | Tumor predisposition syndrome 3 [RCV002112324] | benign | 7 | 124827316 | 124827316 | Human | 2 | name |
| 152093894 | CV1561310 | deletion | NM_015450.3(POT1):c.1506-12del | Tumor predisposition syndrome 3 [RCV002094570] | benign | 7 | 124829354 | 124829354 | Human | 2 | name |
| 152054949 | CV1564453 | deletion | NM_015450.3(POT1):c.1007-11del | Tumor predisposition syndrome 3 [RCV002146115] | benign | 7 | 124842974 | 124842974 | Human | 2 | name |
| 152148895 | CV1569160 | single nucleotide variant | NM_015450.3(POT1):c.1505+18G>T | Tumor predisposition syndrome 3 [RCV002220483] | likely benign | 7 | 124835261 | 124835261 | Human | 2 | name |
| 152030440 | CV1571050 | single nucleotide variant | NM_015450.3(POT1):c.1006+11G>A | Tumor predisposition syndrome 3 [RCV002105917] | likely benign | 7 | 124846931 | 124846931 | Human | 2 | name |
| 152113150 | CV1585918 | single nucleotide variant | NM_015450.3(POT1):c.1006+13A>G | Tumor predisposition syndrome 3 [RCV002153321] | likely benign | 7 | 124846929 | 124846929 | Human | 2 | name |
| 152051997 | CV1607164 | single nucleotide variant | NM_015450.3(POT1):c.1686+13G>A | Tumor predisposition syndrome 3 [RCV002109087] | likely benign | 7 | 124827201 | 124827201 | Human | 2 | name |
| 152161412 | CV1619403 | single nucleotide variant | NM_015450.3(POT1):c.1505+12T>C | Tumor predisposition syndrome 3 [RCV002159706] | likely benign | 7 | 124835267 | 124835267 | Human | 2 | name |
| 152171510 | CV1628368 | single nucleotide variant | NM_015450.3(POT1):c.1595-18C>G | Tumor predisposition syndrome 3 [RCV002183523] | likely benign | 7 | 124827323 | 124827323 | Human | 2 | name |
| 152131278 | CV1631103 | single nucleotide variant | NM_015450.3(POT1):c.1007-17A>G | Tumor predisposition syndrome 3 [RCV002119120] | likely benign | 7 | 124842980 | 124842980 | Human | 2 | name |
| 152034137 | CV1634776 | single nucleotide variant | NM_015450.3(POT1):c.1595-17T>G | Tumor predisposition syndrome 3 [RCV002086919]|not specified [RCV002465915] | likely benign | 7 | 124827322 | 124827322 | Human | 2 | name |
| 152175079 | CV1637512 | single nucleotide variant | NM_015450.3(POT1):c.1687-15T>C | Tumor predisposition syndrome 3 [RCV002144660] | likely benign | 7 | 124825372 | 124825372 | Human | 2 | name |
| 152173257 | CV1637703 | single nucleotide variant | NM_015450.3(POT1):c.1164-19T>G | Tumor predisposition syndrome 3 [RCV002162742] | likely benign | 7 | 124841197 | 124841197 | Human | 2 | name |
| 152082286 | CV1641506 | single nucleotide variant | NM_015450.3(POT1):c.1007-11A>T | Tumor predisposition syndrome 3 [RCV002211576] | likely benign | 7 | 124842974 | 124842974 | Human | 2 | name |
| 152126969 | CV1642000 | single nucleotide variant | NM_015450.3(POT1):c.1505+14T>C | Tumor predisposition syndrome 3 [RCV002176298] | likely benign | 7 | 124835265 | 124835265 | Human | 2 | name |
| 153001498 | CV1684316 | single nucleotide variant | NM_015450.3(POT1):c.1506-10T>C | Hereditary cancer-predisposing syndrome [RCV002256961] | uncertain significance | 7 | 124829352 | 124829352 | Human | 1 | name |
| 153001500 | CV1684319 | single nucleotide variant | NM_015450.3(POT1):c.1686+32A>G | Hereditary cancer-predisposing syndrome [RCV002256963]|Tumor predisposition syndrome 3 [RCV003094191]|not specified [RCV002268633] | benign|likely benign|uncertain significance | 7 | 124827182 | 124827182 | Human | 3 | name |
| 153001501 | CV1684320 | duplication | NM_015450.3(POT1):c.-226-11dup | Hereditary cancer-predisposing syndrome [RCV002256964] | likely benign | 7 | 124915656 | 124915657 | Human | 1 | name |
| 153001984 | CV1684321 | single nucleotide variant | NM_015450.3(POT1):c.-412+10A>G | Hereditary cancer-predisposing syndrome [RCV002258401] | uncertain significance | 7 | 124929784 | 124929784 | Human | 1 | name |
| 153302507 | CV1689747 | single nucleotide variant | NM_015450.3(POT1):c.1792+40T>G | not specified [RCV002268645] | uncertain significance | 7 | 124825212 | 124825212 | Human | | name |
| 153302516 | CV1689754 | single nucleotide variant | NM_015450.3(POT1):c.1506-43A>G | not specified [RCV002268652] | likely benign | 7 | 124829385 | 124829385 | Human | | name |
| 153302519 | CV1689756 | duplication | NM_015450.3(POT1):c.1505+36dup | not specified [RCV002268654] | likely benign | 7 | 124835242 | 124835243 | Human | | name |
| 155799392 | CV1859788 | single nucleotide variant | NM_015450.3(POT1):c.1164-25A>G | not specified [RCV002466032] | likely benign | 7 | 124841203 | 124841203 | Human | | name |
| 155799393 | CV1859789 | single nucleotide variant | NM_015450.3(POT1):c.1164-29T>A | not specified [RCV002466033] | likely benign | 7 | 124841207 | 124841207 | Human | | name |
| 156408674 | CV1870227 | single nucleotide variant | NM_015450.3(POT1):c.1506-19T>C | Tumor predisposition syndrome 3 [RCV003071365] | likely benign | 7 | 124829361 | 124829361 | Human | 2 | name |
| 156411339 | CV1893116 | single nucleotide variant | NM_015450.3(POT1):c.1793-16G>T | Tumor predisposition syndrome 3 [RCV003072436] | likely benign | 7 | 124824090 | 124824090 | Human | 2 | name |
| 156378865 | CV1927344 | single nucleotide variant | NM_015450.3(POT1):c.1370-17A>G | Tumor predisposition syndrome 3 [RCV002634099] | likely benign | 7 | 124835431 | 124835431 | Human | 2 | name |
| 156216916 | CV1995474 | single nucleotide variant | NM_015450.3(POT1):c.1506-18T>C | Tumor predisposition syndrome 3 [RCV002667069] | likely benign | 7 | 124829360 | 124829360 | Human | 2 | name |
| 156323006 | CV2022298 | single nucleotide variant | NM_015450.3(POT1):c.1506-11A>G | Tumor predisposition syndrome 3 [RCV002717219] | likely benign | 7 | 124829353 | 124829353 | Human | 2 | name |
| 156266831 | CV2030507 | single nucleotide variant | NM_015450.3(POT1):c.1595-17T>C | Tumor predisposition syndrome 3 [RCV002746501] | likely benign | 7 | 124827322 | 124827322 | Human | 2 | name |
| 155989225 | CV2053112 | single nucleotide variant | NM_015450.3(POT1):c.1792+11A>C | Tumor predisposition syndrome 3 [RCV002819126] | likely benign | 7 | 124825241 | 124825241 | Human | 2 | name |
| 155956320 | CV2087002 | single nucleotide variant | NM_015450.3(POT1):c.950-915C>T | Tumor predisposition syndrome 3 [RCV002862623] | uncertain significance | 7 | 124847913 | 124847913 | Human | 2 | name |
| 156107502 | CV2089297 | single nucleotide variant | NM_015450.3(POT1):c.1163+14A>T | Tumor predisposition syndrome 3 [RCV002848315] | likely benign | 7 | 124842793 | 124842793 | Human | 2 | name |
| 156337469 | CV2095971 | duplication | NM_015450.3(POT1):c.1793-17dup | Tumor predisposition syndrome 3 [RCV002900286] | likely benign | 7 | 124824090 | 124824091 | Human | 2 | name |
| 156319074 | CV2155260 | single nucleotide variant | NM_015450.3(POT1):c.1594+20C>T | Tumor predisposition syndrome 3 [RCV003011572] | likely benign | 7 | 124829234 | 124829234 | Human | 2 | name |
| 156319362 | CV2155291 | single nucleotide variant | NM_015450.3(POT1):c.1163+14A>G | Tumor predisposition syndrome 3 [RCV003011588] | likely benign | 7 | 124842793 | 124842793 | Human | 2 | name |
| 156236086 | CV2173372 | single nucleotide variant | NM_015450.3(POT1):c.1505+16T>G | Tumor predisposition syndrome 3 [RCV003059489] | likely benign | 7 | 124835263 | 124835263 | Human | 2 | name |
| 156367349 | CV2177766 | single nucleotide variant | NM_015450.3(POT1):c.1163+11T>C | Tumor predisposition syndrome 3 [RCV003049438] | likely benign | 7 | 124842796 | 124842796 | Human | 2 | name |
| 156142208 | CV2177971 | single nucleotide variant | NM_015450.3(POT1):c.1792+17T>A | Tumor predisposition syndrome 3 [RCV003040077] | likely benign | 7 | 124825235 | 124825235 | Human | 2 | name |
| 401798092 | CV2741273 | single nucleotide variant | NM_015450.3(POT1):c.1163+29T>G | not specified [RCV003322436] | likely benign | 7 | 124842778 | 124842778 | Human | | name |
| 401798118 | CV2741278 | single nucleotide variant | NM_015450.3(POT1):c.1006+33A>G | not specified [RCV003322441] | likely benign | 7 | 124846909 | 124846909 | Human | | name |
| 401798305 | CV2741400 | single nucleotide variant | NM_015450.3(POT1):c.1792+30C>T | not specified [RCV003322563] | likely benign | 7 | 124825222 | 124825222 | Human | | name |
| 401798308 | CV2741405 | single nucleotide variant | NM_015450.3(POT1):c.1506-35T>A | not specified [RCV003322568] | likely benign | 7 | 124829377 | 124829377 | Human | | name |
| 401798314 | CV2741411 | single nucleotide variant | NM_015450.3(POT1):c.1370-30A>T | not specified [RCV003322574] | likely benign | 7 | 124835444 | 124835444 | Human | | name |
| 405008853 | CV2853132 | single nucleotide variant | NM_015450.3(POT1):c.1792+44G>T | not specified [RCV003494326] | uncertain significance | 7 | 124825208 | 124825208 | Human | | name |
| 405150514 | CV2884798 | single nucleotide variant | NM_015450.3(POT1):c.1370-10C>T | Tumor predisposition syndrome 3 [RCV003585611] | likely benign | 7 | 124835424 | 124835424 | Human | 2 | name |
| 405150423 | CV2891062 | single nucleotide variant | NM_015450.3(POT1):c.1164-16T>C | Tumor predisposition syndrome 3 [RCV003585603] | likely benign | 7 | 124841194 | 124841194 | Human | 2 | name |
| 405140924 | CV2898063 | single nucleotide variant | NM_015450.3(POT1):c.1686+11G>A | Tumor predisposition syndrome 3 [RCV003584106] | likely benign | 7 | 124827203 | 124827203 | Human | 2 | name |
| 405141110 | CV2899119 | single nucleotide variant | NM_015450.3(POT1):c.1594+15C>T | Tumor predisposition syndrome 3 [RCV003584126] | likely benign | 7 | 124829239 | 124829239 | Human | 2 | name |
| 405141299 | CV2902903 | single nucleotide variant | NM_015450.3(POT1):c.1164-14G>A | Tumor predisposition syndrome 3 [RCV003584147] | likely benign | 7 | 124841192 | 124841192 | Human | 2 | name |
| 405141882 | CV2912308 | single nucleotide variant | NM_015450.3(POT1):c.1163+14A>C | Tumor predisposition syndrome 3 [RCV003584206] | likely benign | 7 | 124842793 | 124842793 | Human | 2 | name |
| 405142633 | CV2921505 | single nucleotide variant | NM_015450.3(POT1):c.1505+16T>C | Tumor predisposition syndrome 3 [RCV003584309] | likely benign | 7 | 124835263 | 124835263 | Human | 2 | name |
| 405143621 | CV2924399 | single nucleotide variant | NM_015450.3(POT1):c.1506-20C>G | Tumor predisposition syndrome 3 [RCV003584403] | likely benign | 7 | 124829362 | 124829362 | Human | 2 | name |
| 405143451 | CV2930073 | single nucleotide variant | NM_015450.3(POT1):c.1687-18T>G | Tumor predisposition syndrome 3 [RCV003584388] | likely benign | 7 | 124825375 | 124825375 | Human | 2 | name |
| 405248181 | CV2943225 | single nucleotide variant | NM_015450.3(POT1):c.1686+11G>C | Tumor predisposition syndrome 3 [RCV003746699] | likely benign | 7 | 124827203 | 124827203 | Human | 2 | name |
| 405248810 | CV2967618 | single nucleotide variant | NM_015450.3(POT1):c.1687-19C>T | Tumor predisposition syndrome 3 [RCV003746918] | likely benign | 7 | 124825376 | 124825376 | Human | 2 | name |
| 405249075 | CV2975367 | single nucleotide variant | NM_015450.3(POT1):c.1007-19A>G | Tumor predisposition syndrome 3 [RCV003746980] | likely benign | 7 | 124842982 | 124842982 | Human | 2 | name |
| 405249087 | CV2975598 | single nucleotide variant | NM_015450.3(POT1):c.1007-20A>T | Tumor predisposition syndrome 3 [RCV003746984] | likely benign | 7 | 124842983 | 124842983 | Human | 2 | name |
| 405249920 | CV2982792 | single nucleotide variant | NM_015450.3(POT1):c.1164-13C>A | Tumor predisposition syndrome 3 [RCV003747164] | likely benign | 7 | 124841191 | 124841191 | Human | 2 | name |
| 405249779 | CV2984423 | single nucleotide variant | NM_015450.3(POT1):c.1687-11A>T | Tumor predisposition syndrome 3 [RCV003747073] | likely benign | 7 | 124825368 | 124825368 | Human | 2 | name |
| 405249604 | CV2990233 | single nucleotide variant | NM_015450.3(POT1):c.1595-14T>C | Tumor predisposition syndrome 3 [RCV003747197] | likely benign | 7 | 124827319 | 124827319 | Human | 2 | name |
| 405249787 | CV2995504 | single nucleotide variant | NM_015450.3(POT1):c.1163+13C>T | Tumor predisposition syndrome 3 [RCV003747273] | likely benign | 7 | 124842794 | 124842794 | Human | 2 | name |
| 405249900 | CV3000340 | single nucleotide variant | NM_015450.3(POT1):c.1505+15T>G | Tumor predisposition syndrome 3 [RCV003747322] | likely benign | 7 | 124835264 | 124835264 | Human | 2 | name |
| 405247134 | CV3006885 | single nucleotide variant | NM_015450.3(POT1):c.1369+14G>A | Tumor predisposition syndrome 3 [RCV003746047] | likely benign | 7 | 124840959 | 124840959 | Human | 2 | name |
| 405246871 | CV3018546 | single nucleotide variant | NM_015450.3(POT1):c.1595-12T>A | Tumor predisposition syndrome 3 [RCV003746148] | likely benign | 7 | 124827317 | 124827317 | Human | 2 | name |
| 405246849 | CV3025149 | single nucleotide variant | NM_015450.3(POT1):c.1793-17T>C | Tumor predisposition syndrome 3 [RCV003746141] | likely benign | 7 | 124824091 | 124824091 | Human | 2 | name |
| 405250622 | CV3076535 | duplication | NM_015450.3(POT1):c.1793-11dup | Tumor predisposition syndrome 3 [RCV003747606] | benign | 7 | 124824084 | 124824085 | Human | 2 | name |
| 407480157 | CV3415228 | single nucleotide variant | NM_015450.3(POT1):c.1792+40T>C | not specified [RCV004595943] | likely benign | 7 | 124825212 | 124825212 | Human | | name |
| 407480167 | CV3415229 | single nucleotide variant | NM_015450.3(POT1):c.1792+19A>G | not specified [RCV004595944] | likely benign | 7 | 124825233 | 124825233 | Human | | name |
| 407480174 | CV3415230 | deletion | NM_015450.3(POT1):c.1687-22del | not specified [RCV004595945] | likely benign | 7 | 124825379 | 124825379 | Human | | name |
| 407480184 | CV3415231 | deletion | NM_015450.3(POT1):c.1687-33del | not specified [RCV004595946] | likely benign | 7 | 124825390 | 124825390 | Human | | name |
| 407480192 | CV3415233 | single nucleotide variant | NM_015450.3(POT1):c.1595-33C>A | not specified [RCV004595948] | likely benign | 7 | 124827338 | 124827338 | Human | | name |
| 407481984 | CV3415234 | single nucleotide variant | NM_015450.3(POT1):c.1594+28T>G | not specified [RCV004595949] | likely benign | 7 | 124829226 | 124829226 | Human | | name |
| 407481967 | CV3415235 | single nucleotide variant | NM_015450.3(POT1):c.1369+28A>G | not specified [RCV004595950] | likely benign | 7 | 124840945 | 124840945 | Human | | name |
| 597940594 | CV3760617 | single nucleotide variant | NM_015450.3(POT1):c.1793-17T>G | Tumor predisposition syndrome 3 [RCV005077344] | likely benign | 7 | 124824091 | 124824091 | Human | 2 | name |
| 597869515 | CV3764631 | deletion | NM_015450.3(POT1):c.1594+10del | Tumor predisposition syndrome 3 [RCV005107430] | likely benign | 7 | 124829244 | 124829244 | Human | 2 | name |
| 597859817 | CV3770002 | deletion | NM_015450.3(POT1):c.1793-11del | Tumor predisposition syndrome 3 [RCV005105854] | benign | 7 | 124824085 | 124824085 | Human | 2 | name |
| 597943935 | CV3782716 | single nucleotide variant | NM_015450.3(POT1):c.1369+16C>T | Tumor predisposition syndrome 3 [RCV005134256] | likely benign | 7 | 124840957 | 124840957 | Human | 2 | name |
| 597900539 | CV3783030 | single nucleotide variant | NM_015450.3(POT1):c.1687-16A>C | Tumor predisposition syndrome 3 [RCV005127050] | likely benign | 7 | 124825373 | 124825373 | Human | 2 | name |
| 597928381 | CV3783426 | single nucleotide variant | NM_015450.3(POT1):c.1163+13C>G | Tumor predisposition syndrome 3 [RCV005116113] | likely benign | 7 | 124842794 | 124842794 | Human | 2 | name |
| 597917689 | CV3789611 | single nucleotide variant | NM_015450.3(POT1):c.1370-13A>T | Tumor predisposition syndrome 3 [RCV005129706] | likely benign | 7 | 124835427 | 124835427 | Human | 2 | name |
| 597932928 | CV3789883 | single nucleotide variant | NM_015450.3(POT1):c.1163+11T>G | Tumor predisposition syndrome 3 [RCV005131962] | likely benign | 7 | 124842796 | 124842796 | Human | 2 | name |
| 597960728 | CV3794735 | single nucleotide variant | NM_015450.3(POT1):c.1595-16T>G | Tumor predisposition syndrome 3 [RCV005138640] | likely benign | 7 | 124827321 | 124827321 | Human | 2 | name |
| 597840120 | CV3825259 | single nucleotide variant | NM_015450.3(POT1):c.1687-16A>G | Tumor predisposition syndrome 3 [RCV005171942] | likely benign | 7 | 124825373 | 124825373 | Human | 2 | name |
| 597911338 | CV3826118 | single nucleotide variant | NM_015450.3(POT1):c.1369+10T>G | Tumor predisposition syndrome 3 [RCV005182854] | likely benign | 7 | 124840963 | 124840963 | Human | 2 | name |
| 597838713 | CV3828905 | single nucleotide variant | NM_015450.3(POT1):c.1007-16T>C | Tumor predisposition syndrome 3 [RCV005171598] | likely benign | 7 | 124842979 | 124842979 | Human | 2 | name |
| 597974619 | CV3831747 | deletion | NM_015450.3(POT1):c.1370-14del | Tumor predisposition syndrome 3 [RCV005168686] | likely benign | 7 | 124835428 | 124835428 | Human | 2 | name |
| 597953625 | CV3844036 | single nucleotide variant | NM_015450.3(POT1):c.1006+10T>C | Tumor predisposition syndrome 3 [RCV005190898] | likely benign | 7 | 124846932 | 124846932 | Human | 2 | name |
| 597868719 | CV3858359 | single nucleotide variant | NM_015450.3(POT1):c.1164-10A>T | Tumor predisposition syndrome 3 [RCV005197102] | likely benign | 7 | 124841188 | 124841188 | Human | 2 | name |
| 597933395 | CV3858614 | single nucleotide variant | NM_015450.3(POT1):c.1686+19A>G | Tumor predisposition syndrome 3 [RCV005207083] | likely benign | 7 | 124827195 | 124827195 | Human | 2 | name |
| 598125470 | CV3881615 | single nucleotide variant | NM_015450.3(POT1):c.1687-27T>G | not specified [RCV005232521] | likely benign | 7 | 124825384 | 124825384 | Human | | name |
| 598125471 | CV3881616 | single nucleotide variant | NM_015450.3(POT1):c.1687-43T>G | not specified [RCV005232522] | likely benign | 7 | 124825400 | 124825400 | Human | | name |
| 13489958 | CV456719 | single nucleotide variant | NM_015450.3(POT1):c.1164-10A>G | Tumor predisposition syndrome 3 [RCV000533188] | uncertain significance | 7 | 124841188 | 124841188 | Human | 2 | name , alternate_id |
| 13485942 | CV457050 | single nucleotide variant | NM_015450.3(POT1):c.1369+10T>C | Tumor predisposition syndrome 3 [RCV000530992] | likely benign | 7 | 124840963 | 124840963 | Human | 2 | name , alternate_id |
| 13484031 | CV457067 | single nucleotide variant | NM_015450.3(POT1):c.1369+10T>A | Tumor predisposition syndrome 3 [RCV000552572]|not specified [RCV001821624] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 7 | 124840963 | 124840963 | Human | 2 | name , alternate_id |
| 13540732 | CV501543 | duplication | NM_015450.3(POT1):c.1595-11dup | Tumor predisposition syndrome 3 [RCV002066644]|not specified [RCV000615124] | benign|likely benign | 7 | 124827315 | 124827316 | Human | 2 | name , alternate_id |
| 13532188 | CV501547 | single nucleotide variant | NM_015450.3(POT1):c.1006+16A>G | Tumor predisposition syndrome 3 [RCV002066727]|not provided [RCV004712910]|not specified [RCV000606720] | benign | 7 | 124846926 | 124846926 | Human | 2 | name , alternate_id |
| 13540556 | CV501786 | single nucleotide variant | NM_015450.3(POT1):c.1164-13C>T | Tumor predisposition syndrome 3 [RCV002064375]|not provided [RCV004712911]|not specified [RCV000614864] | benign | 7 | 124841191 | 124841191 | Human | 2 | name , alternate_id |
| 13811893 | CV566387 | deletion | NM_015450.3(POT1):c.9+4_9+6del | Hereditary cancer-predisposing syndrome [RCV001018629]|Tumor predisposition syndrome 3 [RCV000689065]|not provided [RCV002509513] | uncertain significance | 7 | 124897159 | 124897161 | Human | 3 | name , alternate_id |
| 14732245 | CV662155 | single nucleotide variant | NM_015450.3(POT1):c.1594+41T>A | not provided [RCV000836492] | benign | 7 | 124829213 | 124829213 | Human | | name |
| 14735423 | CV662161 | duplication | NM_015450.3(POT1):c.949+171dup | not provided [RCV000838000] | likely benign | 7 | 124851700 | 124851701 | Human | | name |
| 14735421 | CV662168 | single nucleotide variant | NM_015450.3(POT1):c.703-233G>A | not provided [RCV000837999] | likely benign | 7 | 124853371 | 124853371 | Human | | name |
| 14732262 | CV662553 | single nucleotide variant | NM_015450.3(POT1):c.547-222C>A | not provided [RCV000836505] | benign | 7 | 124859334 | 124859334 | Human | | name |
| 14735419 | CV662557 | single nucleotide variant | NM_015450.3(POT1):c.255+218A>G | not provided [RCV000837998] | likely benign | 7 | 124870693 | 124870693 | Human | | name |
| 14732247 | CV662562 | single nucleotide variant | NM_015450.3(POT1):c.-39-210T>G | not provided [RCV000836493] | benign | 7 | 124897422 | 124897422 | Human | | name |
| 14736460 | CV662610 | single nucleotide variant | NM_015450.3(POT1):c.-40+162G>T | not provided [RCV000838480] | benign | 7 | 124898099 | 124898099 | Human | | name |
| 14732253 | CV662622 | single nucleotide variant | NM_015450.3(POT1):c.1687-98T>G | not provided [RCV000836501] | benign | 7 | 124825455 | 124825455 | Human | | name |
| 14732232 | CV662634 | single nucleotide variant | NM_015450.3(POT1):c.546+208G>A | not provided [RCV000836486] | benign | 7 | 124863142 | 124863142 | Human | | name |
| 14709717 | CV662636 | duplication | NM_015450.3(POT1):c.-40+149dup | not provided [RCV000838490] | likely benign | 7 | 124898103 | 124898104 | Human | | name |
| 150422962 | CV1180274 | single nucleotide variant | NM_015450.3(POT1):c.1793-303A>G | not provided [RCV001553362] | likely benign | 7 | 124824377 | 124824377 | Human | | name |
| 150407869 | CV1190605 | single nucleotide variant | NM_015450.3(POT1):c.1595-167A>G | not provided [RCV001565137] | likely benign | 7 | 124827472 | 124827472 | Human | | name |
| 150430797 | CV1204011 | single nucleotide variant | NM_015450.3(POT1):c.-412+193T>C | not provided [RCV001580786] | likely benign | 7 | 124929601 | 124929601 | Human | | name |
| 150507982 | CV1213910 | single nucleotide variant | NM_015450.3(POT1):c.1007-319G>A | not provided [RCV001596431] | likely benign | 7 | 124843282 | 124843282 | Human | | name |
| 150462063 | CV1214591 | single nucleotide variant | NM_015450.3(POT1):c.-226-155A>G | not provided [RCV001613584] | benign | 7 | 124915801 | 124915801 | Human | | name |
| 150481067 | CV1258847 | single nucleotide variant | NM_015450.3(POT1):c.1595-254A>G | not provided [RCV001685977] | benign | 7 | 124827559 | 124827559 | Human | | name |
| 150448947 | CV1270531 | single nucleotide variant | NM_015450.3(POT1):c.1007-255T>A | not provided [RCV001691669] | benign | 7 | 124843218 | 124843218 | Human | | name |
| 150480322 | CV1282619 | single nucleotide variant | NM_015450.3(POT1):c.1164-216G>C | not provided [RCV001714625] | benign | 7 | 124841394 | 124841394 | Human | | name |
| 150500352 | CV1283491 | single nucleotide variant | NM_015450.3(POT1):c.-153-162T>C | not provided [RCV001718375] | benign | 7 | 124898536 | 124898536 | Human | | name |
| 150443102 | CV1287834 | single nucleotide variant | NM_015450.3(POT1):c.1686+215A>G | not provided [RCV001725555] | benign | 7 | 124826999 | 124826999 | Human | | name |
| 405141511 | CV2906879 | single nucleotide variant | NM_015450.3(POT1):c.703-1218C>T | Tumor predisposition syndrome 3 [RCV003584168] | uncertain significance | 7 | 124854356 | 124854356 | Human | 2 | name |
| 14732268 | CV662153 | single nucleotide variant | NM_015450.3(POT1):c.1595-111A>G | not provided [RCV000836507] | benign | 7 | 124827416 | 124827416 | Human | | name |
| 14735427 | CV662549 | single nucleotide variant | NM_015450.3(POT1):c.1370-150A>G | not provided [RCV000838001] | likely benign | 7 | 124835564 | 124835564 | Human | | name |
| 14732240 | CV662550 | single nucleotide variant | NM_015450.3(POT1):c.1369+158A>G | not provided [RCV000836490] | benign | 7 | 124840815 | 124840815 | Human | | name |
| 14736459 | CV662570 | single nucleotide variant | NM_015450.3(POT1):c.-153-187G>A | not provided [RCV000838479] | benign | 7 | 124898561 | 124898561 | Human | | name |
| 14732255 | CV662585 | single nucleotide variant | NM_015450.3(POT1):c.1792+209T>A | not provided [RCV000836502] | benign | 7 | 124825043 | 124825043 | Human | | name |
| 14732242 | CV662596 | single nucleotide variant | NM_015450.3(POT1):c.1506-191C>T | not provided [RCV000836491] | benign | 7 | 124829533 | 124829533 | Human | | name |
| 14732238 | CV662599 | single nucleotide variant | NM_015450.3(POT1):c.1164-171A>T | not provided [RCV000836489] | benign | 7 | 124841349 | 124841349 | Human | | name |
| 14732236 | CV662600 | single nucleotide variant | NM_015450.3(POT1):c.1164-188A>T | not provided [RCV000836488] | benign | 7 | 124841366 | 124841366 | Human | | name |
| 14736456 | CV662611 | single nucleotide variant | NM_015450.3(POT1):c.-227+159T>C | not provided [RCV000838478] | benign | 7 | 124928656 | 124928656 | Human | | name |
| 14732265 | CV662627 | single nucleotide variant | NM_015450.3(POT1):c.1007-205A>G | not provided [RCV000836506] | benign | 7 | 124843168 | 124843168 | Human | | name |
| 156016761 | CV2010374 | microsatellite | NM_015450.3(POT1):c.10-6_10-3del | Tumor predisposition syndrome 3 [RCV002735181] | likely benign | 7 | 124892383 | 124892386 | Human | | name |
| 404981456 | CV2850849 | single nucleotide variant | NM_015450.3(POT1):c.-154+1656C>T | not provided [RCV003488302] | uncertain significance | 7 | 124913918 | 124913918 | Human | | name |
| 38456865 | CV955012 | deletion | NM_015450.3(POT1):c.120_124+1del | Tumor predisposition syndrome 3 [RCV001245917] | uncertain significance | 7 | 124892265 | 124892270 | Human | 2 | name |
| 155687947 | CV1817503 | duplication | NM_015450.3(POT1):c.870-57_882dup | Hereditary cancer-predisposing syndrome [RCV002373430]|Tumor predisposition syndrome 3 [RCV005058551] | uncertain significance | 7 | 124851938 | 124851939 | Human | 3 | name |
| 597701682 | CV3718827 | deletion | NM_015450.3(POT1):c.991_1006+7del | Tumor predisposition syndrome 3 [RCV005033577] | likely pathogenic | 7 | 124846935 | 124846957 | Human | 4 | name |
| 150336051 | CV1171659 | microsatellite | NM_015450.3(POT1):c.1505+7TGTTT[5] | not provided [RCV001540818]|not specified [RCV001692465] | benign|likely benign | 7 | 124835243 | 124835247 | Human | | name |
| 150464735 | CV1263143 | microsatellite | NM_015450.3(POT1):c.1505+7TGTTT[7] | not provided [RCV001686543]|not specified [RCV001694162] | benign | 7 | 124835242 | 124835243 | Human | | name |
| 152058293 | CV1543639 | deletion | NM_015450.3(POT1):c.950-6_950-5del | Hereditary cancer-predisposing syndrome [RCV004046545]|POT1-related disorder [RCV004747058]|Tumor predisposition syndrome 3 [RCV002128042] | likely benign | 7 | 124847003 | 124847004 | Human | 3 | name , alternate_id |
| 155265032 | CV1695422 | microsatellite | NM_015450.3(POT1):c.1505+7TGTTT[8] | not specified [RCV002279997] | likely benign | 7 | 124835242 | 124835243 | Human | | name |
| 405007497 | CV2853133 | microsatellite | NM_015450.3(POT1):c.1505+7TGTTT[4] | not specified [RCV003494327] | likely benign | 7 | 124835243 | 124835252 | Human | | name |
| 597940472 | CV3788991 | microsatellite | NM_015450.3(POT1):c.125-9_125-8del | Tumor predisposition syndrome 3 [RCV005133454] | likely benign | 7 | 124871049 | 124871050 | Human | | name |
| 25326962 | CV808945 | single nucleotide variant | NM_015450.3(POT1):c.7T>C (p.Leu3=) | Hereditary cancer-predisposing syndrome [RCV001027046] | likely benign | 7 | 124897167 | 124897167 | Human | 1 | name |
| 25329049 | CV815369 | deletion | NM_015450.3(POT1):c.1007-2_1009del | Hereditary cancer-predisposing syndrome [RCV001016971]|Tumor predisposition syndrome 3 [RCV005093147] | likely pathogenic|uncertain significance | 7 | 124842961 | 124842965 | Human | 3 | name |
| 8590335 | CV125026 | single nucleotide variant | NR_125718.1(POT1-AS1):n.582-1076A>T | Lung cancer [RCV000105545] | uncertain significance | 7 | 125019257 | 125019257 | Human | | name |
| 150555014 | CV1310004 | microsatellite | NM_015450.3(POT1):c.702+9_702+10del | not provided [RCV003238010] | uncertain significance | 7 | 124858947 | 124858948 | Human | | name |
| 155686585 | CV1852643 | single nucleotide variant | NM_015450.3(POT1):c.27T>C (p.Tyr9=) | Hereditary cancer-predisposing syndrome [RCV002441582]|Tumor predisposition syndrome 3 [RCV003585276] | likely benign | 7 | 124892363 | 124892363 | Human | 3 | name |
| 155970922 | CV2079213 | deletion | NM_015450.3(POT1):c.2del (p.Met1fs) | Tumor predisposition syndrome 3 [RCV002881483] | pathogenic | 7 | 124897172 | 124897172 | Human | 2 | name |
| 329385136 | CV2423041 | duplication | NM_015450.3(POT1):c.2dup (p.Met1fs) | Hereditary cancer-predisposing syndrome [RCV003177030] | likely pathogenic | 7 | 124897171 | 124897172 | Human | 1 | name |
| 405141171 | CV2905709 | duplication | NM_015450.3(POT1):c.949+9_949+11dup | Tumor predisposition syndrome 3 [RCV003584133] | likely benign | 7 | 124851860 | 124851861 | Human | 2 | name |
| 405247282 | CV3041094 | deletion | NM_015450.3(POT1):c.1003_1006+10del | Hereditary cancer-predisposing syndrome [RCV004943195]|Tumor predisposition syndrome 3 [RCV003746311] | likely pathogenic|uncertain significance | 7 | 124846932 | 124846945 | Human | 3 | name |
| 597662654 | CV3580851 | deletion | NM_015450.3(POT1):c.125-9831_236del | Hereditary cancer-predisposing syndrome [RCV004946539] | likely pathogenic | 7 | 124870930 | 124880872 | Human | 1 | name |
| 597871541 | CV3835703 | deletion | NM_015450.3(POT1):c.870-12_870-9del | Tumor predisposition syndrome 3 [RCV005176694] | likely benign | 7 | 124851960 | 124851963 | Human | 2 | name |
| 597901459 | CV3851328 | single nucleotide variant | NM_015450.3(POT1):c.15A>C (p.Pro5=) | Tumor predisposition syndrome 3 [RCV005202104] | likely benign | 7 | 124892375 | 124892375 | Human | 2 | name |
| 14743956 | CV655772 | single nucleotide variant | NM_015450.3(POT1):c.21A>T (p.Thr7=) | not provided [RCV000842430] | likely benign | 7 | 124892369 | 124892369 | Human | | name |
| 25325344 | CV808944 | single nucleotide variant | NM_015450.3(POT1):c.15A>G (p.Pro5=) | Hereditary cancer-predisposing syndrome [RCV001012304]|Tumor predisposition syndrome 3 [RCV002549366] | likely benign | 7 | 124892375 | 124892375 | Human | 3 | name |
| 126732580 | CV1027703 | single nucleotide variant | NM_015450.3(POT1):c.8T>C (p.Leu3Ser) | Tumor predisposition syndrome 3 [RCV001349627] | uncertain significance | 7 | 124897166 | 124897166 | Human | 2 | name , alternate_id |
| 127277218 | CV1095979 | single nucleotide variant | NM_015450.3(POT1):c.30A>T (p.Ile10=) | Tumor predisposition syndrome 3 [RCV001444250] | likely benign | 7 | 124892360 | 124892360 | Human | 2 | name , alternate_id |
| 127303462 | CV1117486 | microsatellite | NM_015450.3(POT1):c.1793-20TTTTGT[2] | Hereditary cancer-predisposing syndrome [RCV004038609]|Tumor predisposition syndrome 3 [RCV001461938] | likely benign | 7 | 124824077 | 124824082 | Human | | name , alternate_id |
| 13470113 | CV457048 | deletion | NM_015450.3(POT1):c.1370-8_1370-6del | Tumor predisposition syndrome 3 [RCV000545895] | uncertain significance | 7 | 124835420 | 124835422 | Human | 2 | name , alternate_id |
| 13538107 | CV501549 | microsatellite | NM_015450.3(POT1):c.-39-15_-39-12del | not provided [RCV001719109] | benign|likely benign | 7 | 124897224 | 124897227 | Human | | name |
| 13624449 | CV522858 | single nucleotide variant | NM_015450.3(POT1):c.87G>A (p.Val29=) | Hereditary cancer-predisposing syndrome [RCV001018365]|Tumor predisposition syndrome 3 [RCV000652241]|not specified [RCV002268238] | likely benign | 7 | 124892303 | 124892303 | Human | 3 | name , alternate_id |
| 126762733 | CV1007151 | deletion | NM_015450.3(POT1):c.1608_1613del (p.Pro537_Leu538del) | POT1-related disorder [RCV004746321]|Tumor predisposition syndrome 3 [RCV001319021] | uncertain significance | 7 | 124827287 | 124827292 | Human | 2 | alternate_id |
| 127311619 | CV1117491 | single nucleotide variant | NM_015450.3(POT1):c.1473A>G (p.Pro491=) | Hereditary cancer-predisposing syndrome [RCV002396068]|POT1-related disorder [RCV003900570]|Tumor predisposition syndrome 3 [RCV001456961] | likely benign | 7 | 124835311 | 124835311 | Human | 3 | alternate_id |
| 151778139 | CV1370578 | single nucleotide variant | NM_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 significance | 7 | 124851884 | 124851884 | Human | 3 | alternate_id |
| 152134266 | CV1646652 | microsatellite | NM_015450.3(POT1):c.1793-20TTTTGT[4] | Hereditary cancer-predisposing syndrome [RCV003161531]|POT1-related disorder [RCV003895838]|Tumor predisposition syndrome 3 [RCV002137331] | likely benign | 7 | 124824076 | 124824077 | Human | | name , alternate_id |
| 401923025 | CV2796680 | single nucleotide variant | NM_015450.3(POT1):c.346C>A (p.Pro116Thr) | POT1-related disorder [RCV003404299] | uncertain significance | 7 | 124863550 | 124863550 | Human | | alternate_id |
| 405288556 | CV3197459 | single nucleotide variant | NM_015450.3(POT1):c.956G>A (p.Gly319Glu) | POT1-related disorder [RCV003982555] | uncertain significance | 7 | 124846992 | 124846992 | Human | | alternate_id |
| 13488672 | CV456136 | single nucleotide variant | NM_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 significance | 7 | 124840982 | 124840982 | Human | 3 | alternate_id |
| 13477479 | CV456147 | single nucleotide variant | NM_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 benign | 7 | 124842947 | 124842947 | Human | 3 | alternate_id |
| 13475405 | CV456151 | single nucleotide variant | NM_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 benign | 7 | 124853013 | 124853013 | Human | 3 | alternate_id |
| 13474311 | CV456168 | single nucleotide variant | NM_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 benign | 7 | 124853090 | 124853090 | Human | 3 | alternate_id |
| 13493645 | CV456403 | single nucleotide variant | NM_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 significance | 7 | 124841164 | 124841164 | Human | 5 | alternate_id |
| 13486601 | CV456424 | single nucleotide variant | NM_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 significance | 7 | 124846971 | 124846971 | Human | 8 | alternate_id |
| 13501610 | CV456475 | single nucleotide variant | NM_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 significance | 7 | 124892319 | 124892319 | Human | 3 | alternate_id |
| 13474037 | CV456710 | single nucleotide variant | NM_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 significance | 7 | 124840979 | 124840979 | Human | 5 | alternate_id |
| 13491466 | CV456712 | single nucleotide variant | NM_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 significance | 7 | 124841129 | 124841129 | Human | 5 | alternate_id |
| 13482256 | CV457086 | single nucleotide variant | NM_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 significance | 7 | 124842883 | 124842883 | Human | 4 | alternate_id |
| 13475274 | CV457104 | single nucleotide variant | NM_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 significance | 7 | 124851918 | 124851918 | Human | 5 | alternate_id |
| 13470218 | CV457112 | single nucleotide variant | NM_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 benign | 7 | 124853028 | 124853028 | Human | 5 | alternate_id |
| 13489989 | CV474484 | single nucleotide variant | NM_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 pathogenicity | 7 | 124863556 | 124863556 | Human | 3 | alternate_id |
| 13490280 | CV474608 | single nucleotide variant | NM_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 significance | 7 | 124853070 | 124853070 | Human | 3 | alternate_id |
| 13803408 | CV561251 | single nucleotide variant | NM_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 significance | 7 | 124835302 | 124835302 | Human | 3 | alternate_id |
| 13812834 | CV563993 | single nucleotide variant | NM_015450.3(POT1):c.1400C>T (p.Ser467Leu) | Hereditary cancer-predisposing syndrome [RCV003165899]|POT1-related disorder [RCV003945724]|Tumor predisposition syndrome 3 [RCV000703967] | uncertain significance | 7 | 124835384 | 124835384 | Human | 3 | alternate_id |
| 14742297 | CV635600 | single nucleotide variant | NM_015450.3(POT1):c.938A>T (p.Asp313Val) | Hereditary cancer-predisposing syndrome [RCV001019249]|POT1-related disorder [RCV003411816]|Tumor predisposition syndrome 3 [RCV000822706] | uncertain significance | 7 | 124851883 | 124851883 | Human | 3 | alternate_id |
| 15105589 | CV722284 | single nucleotide variant | NM_015450.3(POT1):c.141A>G (p.Val47=) | Hereditary cancer-predisposing syndrome [RCV002256584]|POT1-related disorder [RCV003957987]|Tumor predisposition syndrome 3 [RCV000893109] | likely benign | 7 | 124871025 | 124871025 | Human | 3 | alternate_id |
| 26899652 | CV832930 | single nucleotide variant | NM_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 significance | 7 | 124842840 | 124842840 | Human | 3 | alternate_id |
| 38492230 | CV924629 | single nucleotide variant | NM_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 significance | 7 | 124827222 | 124827222 | Human | 3 | alternate_id |
| 126741064 | CV1001542 | deletion | NC_000007.13:g.(?_124510955)_(124537227_?)del | Tumor predisposition syndrome 3 [RCV001325291] | pathogenic|uncertain significance | | | | Human | 2 | alternate_id |
| 126736088 | CV1007143 | single nucleotide variant | NM_015450.3(POT1):c.1872T>G (p.Ile624Met) | Hereditary cancer-predisposing syndrome [RCV002412003]|Tumor predisposition syndrome 3 [RCV001313809] | uncertain significance | 7 | 124823995 | 124823995 | Human | 3 | alternate_id |
| 126744644 | CV1007144 | single nucleotide variant | NM_015450.3(POT1):c.1850A>C (p.Asp617Ala) | Hereditary cancer-predisposing syndrome [RCV002412009]|Tumor predisposition syndrome 3 [RCV001314965] | uncertain significance | 7 | 124824017 | 124824017 | Human | 3 | alternate_id |
| 126757147 | CV1007145 | single nucleotide variant | NM_015450.3(POT1):c.1801C>A (p.Pro601Thr) | Hereditary cancer-predisposing syndrome [RCV002412020]|Tumor predisposition syndrome 3 [RCV001317401] | uncertain significance | 7 | 124824066 | 124824066 | Human | 3 | alternate_id |
| 126759969 | CV1007146 | single nucleotide variant | NM_015450.3(POT1):c.1793A>T (p.Asp598Val) | Tumor predisposition syndrome 3 [RCV001318206] | uncertain significance | 7 | 124824074 | 124824074 | Human | 2 | alternate_id |
| 126758994 | CV1007147 | single nucleotide variant | NM_015450.3(POT1):c.1785A>G (p.Ile595Met) | Hereditary cancer-predisposing syndrome [RCV002402886]|Tumor predisposition syndrome 3 [RCV001317939] | uncertain significance | 7 | 124825259 | 124825259 | Human | 3 | alternate_id |
| 126769693 | CV1007148 | single nucleotide variant | NM_015450.3(POT1):c.1750G>A (p.Asp584Asn) | Tumor predisposition syndrome 3 [RCV001322121] | uncertain significance | 7 | 124825294 | 124825294 | Human | 2 | alternate_id |
| 126753336 | CV1007149 | single nucleotide variant | NM_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 significance | 7 | 124825333 | 124825333 | Human | 3 | alternate_id |
| 126771290 | CV1007150 | single nucleotide variant | NM_015450.3(POT1):c.1678A>C (p.Met560Leu) | Hereditary cancer-predisposing syndrome [RCV002402901]|Tumor predisposition syndrome 3 [RCV001323073]|not specified [RCV002246297] | uncertain significance | 7 | 124827222 | 124827222 | Human | 3 | alternate_id |
| 126763703 | CV1007152 | single nucleotide variant | NM_015450.3(POT1):c.1523G>A (p.Ser508Asn) | Hereditary cancer-predisposing syndrome [RCV002395691]|Tumor predisposition syndrome 3 [RCV001319352]|not provided [RCV003314686] | likely benign|uncertain significance | 7 | 124829325 | 124829325 | Human | 3 | alternate_id |
| 126770139 | CV1007153 | single nucleotide variant | NM_015450.3(POT1):c.1502A>G (p.Tyr501Cys) | Hereditary cancer-predisposing syndrome [RCV002395708]|Tumor predisposition syndrome 3 [RCV001322388]|not provided [RCV003433109] | uncertain significance | 7 | 124835282 | 124835282 | Human | 3 | alternate_id |
| 126755970 | CV1007154 | single nucleotide variant | NM_015450.3(POT1):c.1450G>A (p.Glu484Lys) | Hereditary cancer-predisposing syndrome [RCV002395729]|Tumor predisposition syndrome 3 [RCV001327869] | uncertain significance | 7 | 124835334 | 124835334 | Human | 3 | alternate_id |
| 126750270 | CV1007155 | single nucleotide variant | NM_015450.3(POT1):c.1384G>A (p.Glu462Lys) | Tumor predisposition syndrome 3 [RCV001315885] | uncertain significance | 7 | 124835400 | 124835400 | Human | 2 | alternate_id |
| 126761864 | CV1007156 | single nucleotide variant | NM_015450.3(POT1):c.1234A>G (p.Lys412Glu) | Hereditary cancer-predisposing syndrome [RCV002366177]|Tumor predisposition syndrome 3 [RCV001318765] | likely benign|uncertain significance | 7 | 124841108 | 124841108 | Human | 3 | alternate_id |
| 126751031 | CV1007157 | single nucleotide variant | NM_015450.3(POT1):c.1015G>T (p.Asp339Tyr) | Tumor predisposition syndrome 3 [RCV001326835] | uncertain significance | 7 | 124842955 | 124842955 | Human | 2 | alternate_id |
| 126769137 | CV1007158 | single nucleotide variant | NM_015450.3(POT1):c.992A>G (p.Gln331Arg) | Tumor predisposition syndrome 3 [RCV001321772]|not provided [RCV003478781] | uncertain significance | 7 | 124846956 | 124846956 | Human | 2 | alternate_id |
| 126761966 | CV1007159 | single nucleotide variant | NM_015450.3(POT1):c.964T>C (p.Ser322Pro) | Tumor predisposition syndrome 3 [RCV001318795] | uncertain significance | 7 | 124846984 | 124846984 | Human | 2 | alternate_id |
| 126770304 | CV1007160 | single nucleotide variant | NM_015450.3(POT1):c.953C>T (p.Ser318Phe) | Hereditary cancer-predisposing syndrome [RCV004945008]|Tumor predisposition syndrome 3 [RCV001322492] | uncertain significance | 7 | 124846995 | 124846995 | Human | 3 | alternate_id |
| 126753665 | CV1007163 | single nucleotide variant | NM_015450.3(POT1):c.834G>T (p.Leu278Phe) | Hereditary cancer-predisposing syndrome [RCV002438755]|Tumor predisposition syndrome 3 [RCV001327330] | uncertain significance | 7 | 124853007 | 124853007 | Human | 3 | alternate_id |
| 126742582 | CV1007164 | single nucleotide variant | NM_015450.3(POT1):c.814G>T (p.Gly272Cys) | Tumor predisposition syndrome 3 [RCV001325504] | uncertain significance | 7 | 124853027 | 124853027 | Human | 2 | alternate_id |
| 126755367 | CV1007165 | single nucleotide variant | NM_015450.3(POT1):c.769A>G (p.Thr257Ala) | Hereditary cancer-predisposing syndrome [RCV003169539]|Tumor predisposition syndrome 3 [RCV001327723] | likely benign|uncertain significance | 7 | 124853072 | 124853072 | Human | 3 | alternate_id |
| 126759918 | CV1007166 | single nucleotide variant | NM_015450.3(POT1):c.676C>A (p.His226Asn) | Tumor predisposition syndrome 3 [RCV001318191] | uncertain significance | 7 | 124858983 | 124858983 | Human | 2 | alternate_id |
| 126748361 | CV1007167 | single nucleotide variant | NM_015450.3(POT1):c.634C>T (p.Arg212Trp) | Hereditary cancer-predisposing syndrome [RCV002366206]|Tumor predisposition syndrome 3 [RCV001326327]|not provided [RCV005416518] | uncertain significance | 7 | 124859025 | 124859025 | Human | 3 | alternate_id |
| 126733600 | CV1007168 | single nucleotide variant | NM_015450.3(POT1):c.323G>A (p.Gly108Glu) | Hereditary cancer-predisposing syndrome [RCV002322220]|Tumor predisposition syndrome 3 [RCV001313424]|not provided [RCV001751598] | uncertain significance | 7 | 124863573 | 124863573 | Human | 3 | alternate_id |
| 126754767 | CV1007169 | single nucleotide variant | NM_015450.3(POT1):c.290C>T (p.Thr97Ile) | Hereditary cancer-predisposing syndrome [RCV004945005]|Tumor predisposition syndrome 3 [RCV001316783] | uncertain significance | 7 | 124863606 | 124863606 | Human | 3 | alternate_id |
| 126764788 | CV1007170 | single nucleotide variant | NM_015450.3(POT1):c.281A>G (p.Gln94Arg) | Tumor predisposition syndrome 3 [RCV001319788] | uncertain significance | 7 | 124863615 | 124863615 | Human | 2 | alternate_id |
| 126750225 | CV1007171 | deletion | NM_015450.3(POT1):c.274_276del (p.Glu92del) | Tumor predisposition syndrome 3 [RCV001326688] | uncertain significance | 7 | 124863620 | 124863622 | Human | 2 | alternate_id |
| 126747453 | CV1007172 | single nucleotide variant | NM_015450.3(POT1):c.229G>T (p.Asp77Tyr) | Tumor predisposition syndrome 3 [RCV001326157] | uncertain significance | 7 | 124870937 | 124870937 | Human | 2 | alternate_id |
| 126727417 | CV1007173 | single nucleotide variant | NM_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 significance | 7 | 124892346 | 124892346 | Human | 3 | alternate_id |
| 126732168 | CV1007174 | single nucleotide variant | NM_015450.3(POT1):c.22A>G (p.Asn8Asp) | Tumor predisposition syndrome 3 [RCV001313168]|not provided [RCV003235545] | uncertain significance | 7 | 124892368 | 124892368 | Human | 2 | alternate_id |
| 126757072 | CV1022276 | deletion | NC_000007.13:g.(?_124482851)_(124483027_?)del | Tumor predisposition syndrome 3 [RCV001339461] | pathogenic|uncertain significance | | | | Human | 2 | alternate_id |
| 126757075 | CV1022277 | deletion | NC_000007.13:g.(?_124499001)_(124511105_?)del | Tumor predisposition syndrome 3 [RCV001339462] | pathogenic|uncertain significance | | | | Human | 2 | alternate_id |
| 126765923 | CV1027671 | single nucleotide variant | NM_015450.3(POT1):c.1877A>T (p.Asp626Val) | Hereditary cancer-predisposing syndrome [RCV003169635]|Tumor predisposition syndrome 3 [RCV001342223] | likely benign|uncertain significance | 7 | 124823990 | 124823990 | Human | 3 | alternate_id |
| 126765834 | CV1027672 | single nucleotide variant | NM_015450.3(POT1):c.1772G>T (p.Cys591Phe) | Hereditary cancer-predisposing syndrome [RCV004945032]|Tumor predisposition syndrome 3 [RCV001342189]|not provided [RCV004998835] | uncertain significance | 7 | 124825272 | 124825272 | Human | 3 | alternate_id |
| 126754419 | CV1027674 | single nucleotide variant | NM_015450.3(POT1):c.1633A>G (p.Thr545Ala) | Tumor predisposition syndrome 3 [RCV001338812] | uncertain significance | 7 | 124827267 | 124827267 | Human | 2 | alternate_id |
| 126729252 | CV1027676 | single nucleotide variant | NM_015450.3(POT1):c.1514A>G (p.Gln505Arg) | Hereditary cancer-predisposing syndrome [RCV002395772]|Tumor predisposition syndrome 3 [RCV001349074] | likely benign|uncertain significance | 7 | 124829334 | 124829334 | Human | 3 | alternate_id |
| 126732696 | CV1027677 | single nucleotide variant | NM_015450.3(POT1):c.1468G>A (p.Ala490Thr) | Hereditary cancer-predisposing syndrome [RCV004651607]|Tumor predisposition syndrome 3 [RCV001349648] | uncertain significance | 7 | 124835316 | 124835316 | Human | 3 | alternate_id |
| 126751322 | CV1027678 | insertion | NM_015450.3(POT1):c.1414_1415insT (p.Ser472fs) | Tumor predisposition syndrome 3 [RCV001338215] | pathogenic|uncertain significance | 7 | 124835369 | 124835370 | Human | 2 | alternate_id |
| 126775013 | CV1027679 | indel | NM_015450.3(POT1):c.1394_1395delinsCT (p.Lys465Thr) | Tumor predisposition syndrome 3 [RCV001347889] | uncertain significance | 7 | 124835389 | 124835390 | Human | | alternate_id |
| 126773200 | CV1027680 | single nucleotide variant | NM_015450.3(POT1):c.1262C>A (p.Ser421Ter) | Tumor predisposition syndrome 3 [RCV001346052] | pathogenic|uncertain significance | 7 | 124841080 | 124841080 | Human | 2 | alternate_id |
| 126733532 | CV1027681 | single nucleotide variant | NM_015450.3(POT1):c.1030G>T (p.Glu344Ter) | Tumor predisposition syndrome 3 [RCV001349796] | pathogenic|uncertain significance | 7 | 124842940 | 124842940 | Human | 2 | alternate_id |
| 126744913 | CV1027682 | single nucleotide variant | NM_015450.3(POT1):c.1006A>T (p.Ile336Leu) | Tumor predisposition syndrome 3 [RCV001351337] | uncertain significance | 7 | 124846942 | 124846942 | Human | 2 | alternate_id |
| 126762335 | CV1027683 | single nucleotide variant | NM_015450.3(POT1):c.964T>A (p.Ser322Thr) | Tumor predisposition syndrome 3 [RCV001340940] | uncertain significance | 7 | 124846984 | 124846984 | Human | 2 | alternate_id |
| 126766877 | CV1027684 | single nucleotide variant | NM_015450.3(POT1):c.932C>G (p.Pro311Arg) | Tumor predisposition syndrome 3 [RCV001342597] | uncertain significance | 7 | 124851889 | 124851889 | Human | 2 | alternate_id |
| 126765868 | CV1027685 | single nucleotide variant | NM_015450.3(POT1):c.853G>A (p.Val285Met) | Hereditary cancer-predisposing syndrome [RCV002447403]|Tumor predisposition syndrome 3 [RCV001342201]|not provided [RCV003478786] | uncertain significance | 7 | 124852988 | 124852988 | Human | 3 | alternate_id |
| 126773901 | CV1027686 | single nucleotide variant | NM_015450.3(POT1):c.842G>A (p.Ser281Asn) | Tumor predisposition syndrome 3 [RCV001346609] | uncertain significance | 7 | 124852999 | 124852999 | Human | 2 | alternate_id |
| 126748105 | CV1027687 | single nucleotide variant | NM_015450.3(POT1):c.740A>G (p.Lys247Arg) | Hereditary cancer-predisposing syndrome [RCV003169747]|Tumor predisposition syndrome 3 [RCV001351795] | uncertain significance | 7 | 124853101 | 124853101 | Human | 3 | alternate_id |
| 126771710 | CV1027688 | single nucleotide variant | NM_015450.3(POT1):c.739A>G (p.Lys247Glu) | Tumor predisposition syndrome 3 [RCV001345201] | uncertain significance | 7 | 124853102 | 124853102 | Human | 2 | alternate_id |
| 126733469 | CV1027689 | single nucleotide variant | NM_015450.3(POT1):c.652A>G (p.Ile218Val) | Hereditary cancer-predisposing syndrome [RCV003169726]|Tumor predisposition syndrome 3 [RCV001349786] | likely benign|uncertain significance | 7 | 124859007 | 124859007 | Human | 3 | alternate_id |
| 126774929 | CV1027690 | single nucleotide variant | NM_015450.3(POT1):c.452T>G (p.Leu151Arg) | Tumor predisposition syndrome 3 [RCV001347790] | uncertain significance | 7 | 124863444 | 124863444 | Human | 2 | alternate_id |
| 126736506 | CV1027691 | single nucleotide variant | NM_015450.3(POT1):c.342C>G (p.Ile114Met) | Hereditary cancer-predisposing syndrome [RCV002456523]|Tumor predisposition syndrome 3 [RCV001350233]|not provided [RCV001762603] | uncertain significance | 7 | 124863554 | 124863554 | Human | 3 | alternate_id |
| 126746588 | CV1027692 | single nucleotide variant | NM_015450.3(POT1):c.188G>T (p.Ser63Ile) | Hereditary cancer-predisposing syndrome [RCV004945053]|Tumor predisposition syndrome 3 [RCV001351541] | uncertain significance | 7 | 124870978 | 124870978 | Human | 3 | alternate_id |
| 126751952 | CV1027693 | single nucleotide variant | NM_015450.3(POT1):c.176G>A (p.Cys59Tyr) | Hereditary cancer-predisposing syndrome [RCV002413837]|Tumor predisposition syndrome 3 [RCV001352525]|not provided [RCV003225182] | uncertain significance | 7 | 124870990 | 124870990 | Human | 3 | alternate_id |
| 126747197 | CV1027694 | single nucleotide variant | NM_015450.3(POT1):c.175T>G (p.Cys59Gly) | Hereditary cancer-predisposing syndrome [RCV002402924]|Tumor predisposition syndrome 3 [RCV001337435] | uncertain significance | 7 | 124870991 | 124870991 | Human | 3 | alternate_id |
| 126753792 | CV1027695 | single nucleotide variant | NM_015450.3(POT1):c.173C>T (p.Thr58Ile) | Tumor predisposition syndrome 3 [RCV001338669] | uncertain significance | 7 | 124870993 | 124870993 | Human | 2 | alternate_id |
| 126771411 | CV1027696 | single nucleotide variant | NM_015450.3(POT1):c.155A>G (p.Gln52Arg) | Tumor predisposition syndrome 3 [RCV001345029] | uncertain significance | 7 | 124871011 | 124871011 | Human | 2 | alternate_id |
| 126765237 | CV1027697 | single nucleotide variant | NM_015450.3(POT1):c.143C>T (p.Thr48Ile) | Hereditary cancer-predisposing syndrome [RCV002395745]|Tumor predisposition syndrome 3 [RCV001341955] | uncertain significance | 7 | 124871023 | 124871023 | Human | 3 | alternate_id |
| 126773520 | CV1027698 | single nucleotide variant | NM_015450.3(POT1):c.131G>T (p.Cys44Phe) | Tumor predisposition syndrome 3 [RCV001346231] | uncertain significance | 7 | 124871035 | 124871035 | Human | 2 | alternate_id |
| 126728096 | CV1027700 | single nucleotide variant | NM_015450.3(POT1):c.97A>G (p.Lys33Glu) | Tumor predisposition syndrome 3 [RCV001348846] | uncertain significance | 7 | 124892293 | 124892293 | Human | 2 | alternate_id |
| 126747559 | CV1027701 | single nucleotide variant | NM_015450.3(POT1):c.70A>G (p.Asn24Asp) | Hereditary cancer-predisposing syndrome [RCV002368155]|Tumor predisposition syndrome 3 [RCV001351690] | uncertain significance | 7 | 124892320 | 124892320 | Human | 3 | alternate_id |
| 126921155 | CV1039101 | deletion | NC_000007.13:g.(?_124486986)_(124537227_?)del | Tumor predisposition syndrome 3 [RCV001374225] | pathogenic|uncertain significance | | | | Human | 2 | alternate_id |
| 126912731 | CV1044603 | single nucleotide variant | NM_015450.3(POT1):c.1896T>G (p.Asp632Glu) | Tumor predisposition syndrome 3 [RCV001369842] | uncertain significance | 7 | 124823971 | 124823971 | Human | 2 | alternate_id |
| 126910389 | CV1044604 | single nucleotide variant | NM_015450.3(POT1):c.1732G>A (p.Asp578Asn) | Tumor predisposition syndrome 3 [RCV001368852]|not provided [RCV004590355] | uncertain significance | 7 | 124825312 | 124825312 | Human | 2 | alternate_id |
| 126909267 | CV1044605 | single nucleotide variant | NM_015450.3(POT1):c.1701G>C (p.Gln567His) | Hereditary cancer-predisposing syndrome [RCV004037039]|Tumor predisposition syndrome 3 [RCV001368350] | uncertain significance | 7 | 124825343 | 124825343 | Human | 3 | alternate_id |
| 126921706 | CV1044606 | duplication | NM_015450.3(POT1):c.1672dup (p.Tyr558fs) | Hereditary cancer-predisposing syndrome [RCV002404862]|Tumor predisposition syndrome 3 [RCV001363810] | pathogenic|uncertain significance | 7 | 124827227 | 124827228 | Human | 3 | alternate_id |
| 126921746 | CV1044607 | deletion | NM_015450.3(POT1):c.1502_1503del (p.Tyr501fs) | Hereditary cancer-predisposing syndrome [RCV004945073]|Tumor predisposition syndrome 3 [RCV001363858] | pathogenic|uncertain significance | 7 | 124835281 | 124835282 | Human | 3 | alternate_id |
| 126924493 | CV1044608 | single nucleotide variant | NM_015450.3(POT1):c.1465T>C (p.Ser489Pro) | Tumor predisposition syndrome 3 [RCV001367100] | uncertain significance | 7 | 124835319 | 124835319 | Human | 2 | alternate_id |
| 126916685 | CV1044609 | single nucleotide variant | NM_015450.3(POT1):c.1443A>C (p.Glu481Asp) | Tumor predisposition syndrome 3 [RCV001360721] | uncertain significance | 7 | 124835341 | 124835341 | Human | 2 | alternate_id |
| 126912864 | CV1044610 | single nucleotide variant | NM_015450.3(POT1):c.1325A>G (p.Asn442Ser) | Hereditary cancer-predisposing syndrome [RCV004945058]|Tumor predisposition syndrome 3 [RCV001358962] | likely benign|uncertain significance | 7 | 124841017 | 124841017 | Human | 3 | alternate_id |
| 126909450 | CV1044611 | single nucleotide variant | NM_015450.3(POT1):c.1081C>G (p.Arg361Gly) | Tumor predisposition syndrome 3 [RCV001368501] | uncertain significance | 7 | 124842889 | 124842889 | Human | 2 | alternate_id |
| 126922606 | CV1044612 | single nucleotide variant | NM_015450.3(POT1):c.1076A>T (p.Gln359Leu) | Tumor predisposition syndrome 3 [RCV001364866] | uncertain significance | 7 | 124842894 | 124842894 | Human | 2 | alternate_id |
| 126915093 | CV1044613 | single nucleotide variant | NM_015450.3(POT1):c.1040C>T (p.Pro347Leu) | Hereditary cancer-predisposing syndrome [RCV002395797]|Tumor predisposition syndrome 3 [RCV001359786] | uncertain significance | 7 | 124842930 | 124842930 | Human | 3 | alternate_id |
| 126920296 | CV1044614 | single nucleotide variant | NM_015450.3(POT1):c.974A>G (p.Glu325Gly) | Hereditary cancer-predisposing syndrome [RCV004945071]|Tumor predisposition syndrome 3 [RCV001362793] | uncertain significance | 7 | 124846974 | 124846974 | Human | 3 | alternate_id |
| 126919091 | CV1044615 | deletion | NM_015450.3(POT1):c.873_885del (p.Asp291fs) | Tumor predisposition syndrome 3 [RCV001373036] | pathogenic|uncertain significance | 7 | 124851936 | 124851948 | Human | 2 | alternate_id |
| 126917988 | CV1044616 | single nucleotide variant | NM_015450.3(POT1):c.820G>A (p.Gly274Arg) | Tumor predisposition syndrome 3 [RCV001361476] | uncertain significance | 7 | 124853021 | 124853021 | Human | 2 | alternate_id |
| 126924410 | CV1044617 | deletion | NM_015450.3(POT1):c.777_781del (p.Leu259fs) | Hereditary cancer-predisposing syndrome [RCV004945083]|Tumor predisposition syndrome 3 [RCV001367001] | pathogenic|uncertain significance | 7 | 124853060 | 124853064 | Human | 3 | alternate_id |
| 126923051 | CV1044618 | insertion | NM_015450.3(POT1):c.744_745insA (p.Gln249fs) | Tumor predisposition syndrome 3 [RCV001365403] | pathogenic|uncertain significance | 7 | 124853096 | 124853097 | Human | 2 | alternate_id |
| 126920502 | CV1044619 | single nucleotide variant | NM_015450.3(POT1):c.701A>C (p.Lys234Thr) | Hereditary cancer-predisposing syndrome [RCV004945104]|Tumor predisposition syndrome 3 [RCV001373843] | uncertain significance | 7 | 124858958 | 124858958 | Human | 3 | alternate_id |
| 126914365 | CV1044620 | single nucleotide variant | NM_015450.3(POT1):c.619T>G (p.Leu207Val) | Hereditary cancer-predisposing syndrome [RCV004945092]|Tumor predisposition syndrome 3 [RCV001370447] | uncertain significance | 7 | 124859040 | 124859040 | Human | 3 | alternate_id |
| 126921233 | CV1044621 | single nucleotide variant | NM_015450.3(POT1):c.386A>G (p.Asp129Gly) | Tumor predisposition syndrome 3 [RCV001363359] | uncertain significance | 7 | 124863510 | 124863510 | Human | 2 | alternate_id |
| 126916290 | CV1044622 | duplication | NM_015450.3(POT1):c.329dup (p.Leu110fs) | Hereditary cancer-predisposing syndrome [RCV004651621]|Tumor predisposition syndrome 3 [RCV001360488] | pathogenic|uncertain significance | 7 | 124863566 | 124863567 | Human | 3 | alternate_id |
| 126919457 | CV1044623 | single nucleotide variant | NM_015450.3(POT1):c.308C>T (p.Ser103Phe) | Tumor predisposition syndrome 3 [RCV001373238] | uncertain significance | 7 | 124863588 | 124863588 | Human | 2 | alternate_id |
| 126909054 | CV1044624 | single nucleotide variant | NM_015450.3(POT1):c.119G>A (p.Gly40Glu) | Hereditary cancer-predisposing syndrome [RCV002350703]|Tumor predisposition syndrome 3 [RCV001368211]|not specified [RCV001820070] | uncertain significance | 7 | 124892271 | 124892271 | Human | 3 | alternate_id |
| 126915949 | CV1044625 | single nucleotide variant | NM_015450.3(POT1):c.116A>G (p.Lys39Arg) | Hereditary cancer-predisposing syndrome [RCV003382552]|Tumor predisposition syndrome 3 [RCV001360284]|not provided [RCV004794532] | uncertain significance | 7 | 124892274 | 124892274 | Human | 3 | alternate_id |
| 126923611 | CV1044626 | single nucleotide variant | NM_015450.3(POT1):c.103C>G (p.Pro35Ala) | Tumor predisposition syndrome 3 [RCV001366039] | uncertain significance | 7 | 124892287 | 124892287 | Human | 2 | alternate_id |
| 126918569 | CV1044627 | single nucleotide variant | NM_015450.3(POT1):c.93C>A (p.Phe31Leu) | Tumor predisposition syndrome 3 [RCV001372734] | uncertain significance | 7 | 124892297 | 124892297 | Human | 2 | alternate_id |
| 126913286 | CV1044628 | single nucleotide variant | NM_015450.3(POT1):c.72T>A (p.Asn24Lys) | Tumor predisposition syndrome 3 [RCV001359118] | uncertain significance | 7 | 124892318 | 124892318 | Human | 2 | alternate_id |
| 127263816 | CV1074342 | single nucleotide variant | NM_015450.3(POT1):c.1794T>C (p.Asp598=) | Tumor predisposition syndrome 3 [RCV001403093] | likely benign | 7 | 124824073 | 124824073 | Human | 2 | alternate_id |
| 127245033 | CV1074343 | single nucleotide variant | NM_015450.3(POT1):c.1665A>G (p.Leu555=) | Hereditary cancer-predisposing syndrome [RCV002404979]|Tumor predisposition syndrome 3 [RCV001416430] | likely benign | 7 | 124827235 | 124827235 | Human | 3 | alternate_id |
| 127280684 | CV1074344 | single nucleotide variant | NM_015450.3(POT1):c.1635C>T (p.Thr545=) | Hereditary cancer-predisposing syndrome [RCV002395925]|Tumor predisposition syndrome 3 [RCV001409954] | likely benign | 7 | 124827265 | 124827265 | Human | 3 | alternate_id |
| 127274744 | CV1074345 | single nucleotide variant | NM_015450.3(POT1):c.1608A>G (p.Val536=) | Hereditary cancer-predisposing syndrome [RCV002404951]|Tumor predisposition syndrome 3 [RCV001406424] | likely benign | 7 | 124827292 | 124827292 | Human | 3 | alternate_id |
| 127259271 | CV1074346 | single nucleotide variant | NM_015450.3(POT1):c.1545A>G (p.Leu515=) | Hereditary cancer-predisposing syndrome [RCV002404985]|Tumor predisposition syndrome 3 [RCV001419750] | likely benign | 7 | 124829303 | 124829303 | Human | 3 | alternate_id |
| 127247059 | CV1074347 | single nucleotide variant | NM_015450.3(POT1):c.1512A>G (p.Lys504=) | Tumor predisposition syndrome 3 [RCV001416845] | likely benign | 7 | 124829336 | 124829336 | Human | 2 | alternate_id |
| 127237095 | CV1074349 | single nucleotide variant | NM_015450.3(POT1):c.903G>C (p.Gln301His) | Tumor predisposition syndrome 3 [RCV001392227] | likely benign | 7 | 124851918 | 124851918 | Human | 2 | alternate_id |
| 127249206 | CV1074350 | single nucleotide variant | NM_015450.3(POT1):c.741A>G (p.Lys247=) | Hereditary cancer-predisposing syndrome [RCV002384616]|Tumor predisposition syndrome 3 [RCV001417283] | likely benign | 7 | 124853100 | 124853100 | Human | 3 | alternate_id |
| 127240674 | CV1074351 | single nucleotide variant | NM_015450.3(POT1):c.561C>G (p.Thr187=) | Tumor predisposition syndrome 3 [RCV001392968] | likely benign | 7 | 124859098 | 124859098 | Human | 2 | alternate_id |
| 127252160 | CV1074353 | single nucleotide variant | NM_015450.3(POT1):c.510C>A (p.Gly170=) | Hereditary cancer-predisposing syndrome [RCV004038152]|Tumor predisposition syndrome 3 [RCV001418003] | likely benign | 7 | 124863386 | 124863386 | Human | 3 | alternate_id |
| 127246583 | CV1074354 | single nucleotide variant | NM_015450.3(POT1):c.411T>G (p.Arg137=) | Tumor predisposition syndrome 3 [RCV001416765] | likely benign | 7 | 124863485 | 124863485 | Human | 2 | alternate_id |
| 127239785 | CV1074355 | single nucleotide variant | NM_015450.3(POT1):c.405C>A (p.Ala135=) | Tumor predisposition syndrome 3 [RCV001397645] | likely benign | 7 | 124863491 | 124863491 | Human | 2 | alternate_id |
| 127233634 | CV1074356 | single nucleotide variant | NM_015450.3(POT1):c.381T>C (p.Thr127=) | Hereditary cancer-predisposing syndrome [RCV002255661]|Tumor predisposition syndrome 3 [RCV001413970] | likely benign | 7 | 124863515 | 124863515 | Human | 3 | alternate_id |
| 127266016 | CV1074357 | single nucleotide variant | NM_015450.3(POT1):c.273G>A (p.Lys91=) | Hereditary cancer-predisposing syndrome [RCV002438929]|Tumor predisposition syndrome 3 [RCV001403735] | likely benign | 7 | 124863623 | 124863623 | Human | 3 | alternate_id |
| 127281714 | CV1095958 | single nucleotide variant | NM_015450.3(POT1):c.1611C>T (p.Pro537=) | Hereditary cancer-predisposing syndrome [RCV002396034]|Tumor predisposition syndrome 3 [RCV001447315] | likely benign | 7 | 124827289 | 124827289 | Human | 3 | alternate_id |
| 127281898 | CV1095962 | single nucleotide variant | NM_015450.3(POT1):c.1440C>T (p.His480=) | Hereditary cancer-predisposing syndrome [RCV002396036]|Tumor predisposition syndrome 3 [RCV001447464] | likely benign | 7 | 124835344 | 124835344 | Human | 3 | alternate_id |
| 127277624 | CV1095963 | single nucleotide variant | NM_015450.3(POT1):c.1389T>C (p.Ile463=) | Hereditary cancer-predisposing syndrome [RCV002396028]|Tumor predisposition syndrome 3 [RCV001444538] | likely benign | 7 | 124835395 | 124835395 | Human | 3 | alternate_id |
| 127255618 | CV1095964 | single nucleotide variant | NM_015450.3(POT1):c.1305A>G (p.Ala435=) | Hereditary cancer-predisposing syndrome [RCV002384662]|Tumor predisposition syndrome 3 [RCV001437492] | likely benign | 7 | 124841037 | 124841037 | Human | 3 | alternate_id |
| 127252604 | CV1095965 | single nucleotide variant | NM_015450.3(POT1):c.1305A>C (p.Ala435=) | Hereditary cancer-predisposing syndrome [RCV002384661]|Tumor predisposition syndrome 3 [RCV001436842] | likely benign | 7 | 124841037 | 124841037 | Human | 3 | alternate_id |
| 127278602 | CV1095967 | single nucleotide variant | NM_015450.3(POT1):c.1159T>C (p.Leu387=) | Tumor predisposition syndrome 3 [RCV001445169] | likely benign | 7 | 124842811 | 124842811 | Human | 2 | alternate_id |
| 127257662 | CV1095968 | single nucleotide variant | NM_015450.3(POT1):c.1137A>G (p.Lys379=) | Tumor predisposition syndrome 3 [RCV001437937] | likely benign | 7 | 124842833 | 124842833 | Human | 2 | alternate_id |
| 127268388 | CV1095969 | single nucleotide variant | NM_015450.3(POT1):c.1044A>G (p.Leu348=) | Hereditary cancer-predisposing syndrome [RCV002405035]|Tumor predisposition syndrome 3 [RCV001440767] | likely benign | 7 | 124842926 | 124842926 | Human | 3 | alternate_id |
| 127278334 | CV1095970 | single nucleotide variant | NM_015450.3(POT1):c.987T>C (p.Cys329=) | Hereditary cancer-predisposing syndrome [RCV003160794]|Tumor predisposition syndrome 3 [RCV001445012] | likely benign | 7 | 124846961 | 124846961 | Human | 3 | alternate_id |
| 127260307 | CV1095971 | single nucleotide variant | NM_015450.3(POT1):c.957A>T (p.Gly319=) | Hereditary cancer-predisposing syndrome [RCV002377711]|Tumor predisposition syndrome 3 [RCV001438546] | likely benign | 7 | 124846991 | 124846991 | Human | 3 | alternate_id |
| 127275258 | CV1095972 | single nucleotide variant | NM_015450.3(POT1):c.927A>G (p.Ser309=) | Tumor predisposition syndrome 3 [RCV001443259] | likely benign | 7 | 124851894 | 124851894 | Human | 2 | alternate_id |
| 127270776 | CV1095973 | single nucleotide variant | NM_015450.3(POT1):c.729C>T (p.Ser243=) | Hereditary cancer-predisposing syndrome [RCV002384675]|Tumor predisposition syndrome 3 [RCV001441559] | likely benign | 7 | 124853112 | 124853112 | Human | 3 | alternate_id |
| 127271604 | CV1095974 | single nucleotide variant | NM_015450.3(POT1):c.651A>G (p.Thr217=) | Hereditary cancer-predisposing syndrome [RCV002368338]|Tumor predisposition syndrome 3 [RCV001431022] | likely benign | 7 | 124859008 | 124859008 | Human | 3 | alternate_id |
| 127280674 | CV1095975 | single nucleotide variant | NM_015450.3(POT1):c.567A>G (p.Thr189=) | Hereditary cancer-predisposing syndrome [RCV002350898]|Tumor predisposition syndrome 3 [RCV001446649] | likely benign | 7 | 124859092 | 124859092 | Human | 3 | alternate_id |
| 127241007 | CV1095976 | single nucleotide variant | NM_015450.3(POT1):c.399A>T (p.Val133=) | Tumor predisposition syndrome 3 [RCV001434335] | likely benign | 7 | 124863497 | 124863497 | Human | 2 | alternate_id |
| 127243128 | CV1095977 | single nucleotide variant | NM_015450.3(POT1):c.330G>A (p.Leu110=) | Hereditary cancer-predisposing syndrome [RCV003284317]|Tumor predisposition syndrome 3 [RCV001423892] | likely benign | 7 | 124863566 | 124863566 | Human | 3 | alternate_id |
| 127337121 | CV1117485 | single nucleotide variant | NM_015450.3(POT1):c.1830C>T (p.Tyr610=) | Hereditary cancer-predisposing syndrome [RCV002414149]|Tumor predisposition syndrome 3 [RCV001475407] | likely benign | 7 | 124824037 | 124824037 | Human | 3 | alternate_id |
| 127299667 | CV1117487 | deletion | NM_015450.3(POT1):c.1793-10_1793-8del | Hereditary cancer-predisposing syndrome [RCV002255673]|Tumor predisposition syndrome 3 [RCV001478260]|not specified [RCV001820176] | likely benign|uncertain significance | 7 | 124824082 | 124824084 | Human | 3 | name , alternate_id |
| 127289191 | CV1117488 | single nucleotide variant | NM_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 benign | 7 | 124827244 | 124827244 | Human | 3 | alternate_id |
| 127320236 | CV1117489 | single nucleotide variant | NM_015450.3(POT1):c.1638T>C (p.Phe546=) | Hereditary cancer-predisposing syndrome [RCV002405094]|Tumor predisposition syndrome 3 [RCV001466857] | likely benign | 7 | 124827262 | 124827262 | Human | 3 | alternate_id |
| 127305263 | CV1117490 | single nucleotide variant | NM_015450.3(POT1):c.1533C>G (p.Ser511=) | Hereditary cancer-predisposing syndrome [RCV004945164]|Tumor predisposition syndrome 3 [RCV001462445] | likely benign | 7 | 124829315 | 124829315 | Human | 3 | alternate_id |
| 127304760 | CV1117492 | single nucleotide variant | NM_015450.3(POT1):c.1449G>A (p.Leu483=) | Hereditary cancer-predisposing syndrome [RCV002396060]|Tumor predisposition syndrome 3 [RCV001455063] | likely benign | 7 | 124835335 | 124835335 | Human | 3 | alternate_id |
| 127292702 | CV1117493 | single nucleotide variant | NM_015450.3(POT1):c.1269C>T (p.Ile423=) | Hereditary cancer-predisposing syndrome [RCV002449265]|Tumor predisposition syndrome 3 [RCV001476376] | likely benign | 7 | 124841073 | 124841073 | Human | 3 | alternate_id |
| 127330095 | CV1117494 | single nucleotide variant | NM_015450.3(POT1):c.1167A>G (p.Gln389=) | Hereditary cancer-predisposing syndrome [RCV002329562]|Tumor predisposition syndrome 3 [RCV001470642] | likely benign | 7 | 124841175 | 124841175 | Human | 3 | alternate_id |
| 127306810 | CV1117496 | single nucleotide variant | NM_015450.3(POT1):c.933T>A (p.Pro311=) | Hereditary cancer-predisposing syndrome [RCV002377757]|Tumor predisposition syndrome 3 [RCV001455650] | likely benign | 7 | 124851888 | 124851888 | Human | 3 | alternate_id |
| 127292186 | CV1117498 | single nucleotide variant | NM_015450.3(POT1):c.837A>G (p.Pro279=) | Hereditary cancer-predisposing syndrome [RCV003339644]|Tumor predisposition syndrome 3 [RCV001451711] | likely benign | 7 | 124853004 | 124853004 | Human | 3 | alternate_id |
| 127313869 | CV1117500 | single nucleotide variant | NM_015450.3(POT1):c.366T>C (p.Tyr122=) | Tumor predisposition syndrome 3 [RCV001464773] | likely benign | 7 | 124863530 | 124863530 | Human | 2 | alternate_id |
| 127307635 | CV1117501 | single nucleotide variant | NM_015450.3(POT1):c.342C>T (p.Ile114=) | Hereditary cancer-predisposing syndrome [RCV002456787]|Tumor predisposition syndrome 3 [RCV001463095] | likely benign | 7 | 124863554 | 124863554 | Human | 3 | alternate_id |
| 127292882 | CV1117503 | single nucleotide variant | NM_015450.3(POT1):c.169C>T (p.Leu57=) | Hereditary cancer-predisposing syndrome [RCV002405077]|Tumor predisposition syndrome 3 [RCV001459066] | likely benign | 7 | 124870997 | 124870997 | Human | 3 | alternate_id |
| 127302780 | CV1117504 | single nucleotide variant | NM_015450.3(POT1):c.111A>C (p.Leu37=) | Tumor predisposition syndrome 3 [RCV001454517] | likely benign | 7 | 124892279 | 124892279 | Human | 2 | alternate_id |
| 127315181 | CV1117505 | single nucleotide variant | NM_015450.3(POT1):c.102C>T (p.Pro34=) | Hereditary cancer-predisposing syndrome [RCV004651666]|Tumor predisposition syndrome 3 [RCV001465158] | likely benign | 7 | 124892288 | 124892288 | Human | 3 | alternate_id |
| 127309644 | CV1138416 | single nucleotide variant | NM_015450.3(POT1):c.1869G>A (p.Gln623=) | Hereditary cancer-predisposing syndrome [RCV002414214]|Tumor predisposition syndrome 3 [RCV001501123] | likely benign | 7 | 124823998 | 124823998 | Human | 3 | alternate_id |
| 127320234 | CV1138417 | single nucleotide variant | NM_015450.3(POT1):c.1677C>T (p.Leu559=) | Hereditary cancer-predisposing syndrome [RCV002405197]|Tumor predisposition syndrome 3 [RCV001504330] | likely benign | 7 | 124827223 | 124827223 | Human | 3 | alternate_id |
| 127311014 | CV1138418 | single nucleotide variant | NM_015450.3(POT1):c.1635C>G (p.Thr545=) | Tumor predisposition syndrome 3 [RCV001501513] | likely benign | 7 | 124827265 | 124827265 | Human | 2 | alternate_id |
| 127325548 | CV1138419 | single nucleotide variant | NM_015450.3(POT1):c.1597C>T (p.Leu533=) | Hereditary cancer-predisposing syndrome [RCV004651681]|Tumor predisposition syndrome 3 [RCV001506045] | likely benign | 7 | 124827303 | 124827303 | Human | 3 | alternate_id |
| 127305607 | CV1138420 | single nucleotide variant | NM_015450.3(POT1):c.1566A>T (p.Thr522=) | Tumor predisposition syndrome 3 [RCV001479802] | likely benign | 7 | 124829282 | 124829282 | Human | 2 | alternate_id |
| 127320461 | CV1138421 | single nucleotide variant | NM_015450.3(POT1):c.1356A>G (p.Leu452=) | Hereditary cancer-predisposing syndrome [RCV002258279]|Tumor predisposition syndrome 3 [RCV001484214] | likely benign | 7 | 124840986 | 124840986 | Human | 3 | alternate_id |
| 127320407 | CV1138422 | single nucleotide variant | NM_015450.3(POT1):c.1350A>G (p.Glu450=) | Hereditary cancer-predisposing syndrome [RCV004037836]|Tumor predisposition syndrome 3 [RCV001504376] | likely benign | 7 | 124840992 | 124840992 | Human | 3 | alternate_id |
| 127297642 | CV1138423 | single nucleotide variant | NM_015450.3(POT1):c.1071T>C (p.Pro357=) | Tumor predisposition syndrome 3 [RCV001497817] | likely benign | 7 | 124842899 | 124842899 | Human | 2 | alternate_id |
| 127304496 | CV1138426 | single nucleotide variant | NM_015450.3(POT1):c.711C>T (p.Ser237=) | Hereditary cancer-predisposing syndrome [RCV002368470]|Tumor predisposition syndrome 3 [RCV001479515]|not specified [RCV004596462] | likely benign | 7 | 124853130 | 124853130 | Human | 3 | alternate_id |
| 127320383 | CV1138428 | single nucleotide variant | NM_015450.3(POT1):c.636G>A (p.Arg212=) | Hereditary cancer-predisposing syndrome [RCV004651673]|Tumor predisposition syndrome 3 [RCV001484172] | likely benign | 7 | 124859023 | 124859023 | Human | 3 | alternate_id |
| 127300832 | CV1138429 | single nucleotide variant | NM_015450.3(POT1):c.627C>T (p.His209=) | Tumor predisposition syndrome 3 [RCV001498679] | likely benign | 7 | 124859032 | 124859032 | Human | 2 | alternate_id |
| 127321063 | CV1138430 | single nucleotide variant | NM_015450.3(POT1):c.549A>G (p.Val183=) | Hereditary cancer-predisposing syndrome [RCV004651679]|Tumor predisposition syndrome 3 [RCV001504647] | likely benign|uncertain significance | 7 | 124859110 | 124859110 | Human | 3 | alternate_id |
| 127321893 | CV1138431 | single nucleotide variant | NM_015450.3(POT1):c.270A>G (p.Lys90=) | Hereditary cancer-predisposing syndrome [RCV002432359]|Tumor predisposition syndrome 3 [RCV001484736] | likely benign | 7 | 124863626 | 124863626 | Human | 3 | alternate_id |
| 8590334 | CV125025 | single nucleotide variant | NR_125718.1(POT1-AS1):n.250+16778C>A | Lung cancer [RCV000105544] | uncertain significance | 7 | 124957163 | 124957163 | Human | | name |
| 8590336 | CV125027 | single nucleotide variant | NR_125718.1(POT1-AS1):n.663-44362C>A | Lung cancer [RCV000105546] | uncertain significance | 7 | 125072512 | 125072512 | Human | | name |
| 152143958 | CV1651574 | insertion | NM_015450.3(POT1):c.702+9_702+10insG | Tumor predisposition syndrome 3 [RCV002138532] | likely benign | 7 | 124858947 | 124858948 | Human | 2 | name |
| 155718549 | CV1827793 | deletion | NM_015450.3(POT1):c.1595-4_1595-3del | Hereditary cancer-predisposing syndrome [RCV002398510] | uncertain significance | 7 | 124827308 | 124827309 | Human | 1 | name |
| 10408155 | CV205690 | single nucleotide variant | NM_015450.3(POT1):c.283G>T (p.Gly95Cys) | Hereditary cancer-predisposing syndrome [RCV004943767]|Tumor predisposition syndrome 3 [RCV000554275] | risk factor|uncertain significance | 7 | 124863613 | 124863613 | Human | 3 | alternate_id |
| 10408156 | CV205691 | single nucleotide variant | NM_015450.3(POT1):c.1348G>T (p.Glu450Ter) | Tumor predisposition syndrome 3 [RCV003329256] | pathogenic|risk factor | 7 | 124840994 | 124840994 | Human | 2 | alternate_id |
| 10408157 | CV205692 | deletion | NM_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 significance | 7 | 124824015 | 124824016 | Human | 3 | alternate_id |
| 401798178 | CV2741298 | deletion | NM_015450.3(POT1):c.255+48_255+49del | not specified [RCV003322461] | likely benign | 7 | 124870862 | 124870863 | Human | | name |
| 405248970 | CV2971724 | deletion | NM_015450.3(POT1):c.124+18_124+19del | Tumor predisposition syndrome 3 [RCV003746944] | likely benign | 7 | 124892247 | 124892248 | Human | 2 | name |
| 407481862 | CV3415237 | deletion | NM_015450.3(POT1):c.256-37_256-34del | not specified [RCV004595952] | likely benign | 7 | 124863674 | 124863677 | Human | | name |
| 597662871 | CV3580886 | deletion | NM_015450.3(POT1):c.1687-5_1687-3del | Hereditary cancer-predisposing syndrome [RCV004946571]|Tumor predisposition syndrome 3 [RCV005107740] | likely benign|uncertain significance | 7 | 124825360 | 124825362 | Human | 3 | name |
| 12844797 | CV368885 | single nucleotide variant | NM_015450.3(POT1):c.107A>G (p.Tyr36Cys) | Hereditary cancer-predisposing syndrome [RCV002418338]|Tumor predisposition syndrome 3 [RCV000811957]|not provided [RCV000438630] | uncertain significance | 7 | 124892283 | 124892283 | Human | 3 | alternate_id |
| 597868411 | CV3787355 | deletion | NM_015450.3(POT1):c.1369+1_1369+7del | Tumor predisposition syndrome 3 [RCV005122240] | likely pathogenic | 7 | 124840966 | 124840972 | Human | 2 | name |
| 12895188 | CV406962 | deletion | NM_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 significance | 7 | 124871019 | 124871019 | Human | 3 | alternate_id |
| 13216556 | CV428666 | single nucleotide variant | NM_015450.3(POT1):c.1481T>C (p.Ile494Thr) | Hereditary cancer-predisposing syndrome [RCV002395214]|Tumor predisposition syndrome 3 [RCV003746531]|not specified [RCV000503909] | uncertain significance | 7 | 124835303 | 124835303 | Human | 3 | alternate_id |
| 13215160 | CV428667 | single nucleotide variant | NM_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 pathogenicity | 7 | 124841114 | 124841114 | Human | 8 | alternate_id |
| 13215160 | CV428667 | single nucleotide variant | NM_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 pathogenicity | 7 | 124841114 | 124841115 | Human | 8 | alternate_id |
| 13214462 | CV428669 | single nucleotide variant | NM_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 significance | 7 | 124842889 | 124842889 | Human | 3 | alternate_id |
| 13213802 | CV428670 | single nucleotide variant | NM_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 significance | 7 | 124863459 | 124863459 | Human | 4 | alternate_id |
| 13215223 | CV428671 | single nucleotide variant | NM_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 significance | 7 | 124863582 | 124863582 | Human | 3 | alternate_id |
| 13216700 | CV428672 | single nucleotide variant | NM_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 significance | 7 | 124892326 | 124892326 | Human | 5 | alternate_id |
| 13473113 | CV444050 | single nucleotide variant | NM_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 significance | 7 | 124824057 | 124824057 | Human | 3 | alternate_id |
| 13497305 | CV456118 | single nucleotide variant | NM_015450.3(POT1):c.1746T>C (p.Ser582=) | Hereditary cancer-predisposing syndrome [RCV002404557]|Tumor predisposition syndrome 3 [RCV000538484] | likely benign | 7 | 124825298 | 124825298 | Human | 3 | alternate_id |
| 13482324 | CV456127 | single nucleotide variant | NM_015450.3(POT1):c.1614C>T (p.Leu538=) | Hereditary cancer-predisposing syndrome [RCV001012425]|Tumor predisposition syndrome 3 [RCV000551813] | likely benign | 7 | 124827286 | 124827286 | Human | 3 | alternate_id |
| 13465516 | CV456128 | single nucleotide variant | NM_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 significance | 7 | 124829293 | 124829293 | Human | 3 | alternate_id |
| 13495387 | CV456131 | single nucleotide variant | NM_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 significance | 7 | 124829314 | 124829314 | Human | 3 | alternate_id |
| 13494825 | CV456132 | single nucleotide variant | NM_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 significance | 7 | 124835303 | 124835303 | Human | 3 | alternate_id |
| 13482570 | CV456134 | single nucleotide variant | NM_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 significance | 7 | 124835368 | 124835368 | Human | 5 | alternate_id |
| 13494815 | CV456137 | single nucleotide variant | NM_015450.3(POT1):c.1185C>T (p.Gly395=) | Hereditary cancer-predisposing syndrome [RCV001010211]|Tumor predisposition syndrome 3 [RCV000536674]|not provided [RCV001764619] | likely benign|uncertain significance | 7 | 124841157 | 124841157 | Human | 3 | alternate_id |
| 13495531 | CV456144 | single nucleotide variant | NM_015450.3(POT1):c.1156C>A (p.His386Asn) | Hereditary cancer-predisposing syndrome [RCV002367949]|Tumor predisposition syndrome 3 [RCV000559700]|not provided [RCV001770478] | uncertain significance | 7 | 124842814 | 124842814 | Human | 3 | alternate_id |
| 13487247 | CV456149 | single nucleotide variant | NM_015450.3(POT1):c.986G>A (p.Cys329Tyr) | Hereditary cancer-predisposing syndrome [RCV003302884]|Tumor predisposition syndrome 3 [RCV000531708]|not provided [RCV003227789] | uncertain significance | 7 | 124846962 | 124846962 | Human | 3 | alternate_id |
| 13466227 | CV456153 | single nucleotide variant | NM_015450.3(POT1):c.801A>G (p.Gly267=) | Hereditary cancer-predisposing syndrome [RCV002420520]|Tumor predisposition syndrome 3 [RCV000543294] | likely benign | 7 | 124853040 | 124853040 | Human | 3 | alternate_id |
| 13494573 | CV456161 | single nucleotide variant | NM_015450.3(POT1):c.753G>C (p.Met251Ile) | Tumor predisposition syndrome 3 [RCV000559000]|not provided [RCV003105958] | uncertain significance | 7 | 124853088 | 124853088 | Human | 2 | alternate_id |
| 13471703 | CV456171 | single nucleotide variant | NM_015450.3(POT1):c.639A>G (p.Leu213=) | Hereditary cancer-predisposing syndrome [RCV000566245]|Tumor predisposition syndrome 3 [RCV000526898] | likely benign | 7 | 124859020 | 124859020 | Human | 3 | alternate_id |
| 13491349 | CV456176 | duplication | NM_015450.3(POT1):c.598_606dup (p.Asp200_Val202dup) | Tumor predisposition syndrome 3 [RCV000534156] | uncertain significance | 7 | 124859052 | 124859053 | Human | 2 | alternate_id |
| 13478292 | CV456187 | single nucleotide variant | NM_015450.3(POT1):c.577T>C (p.Ser193Pro) | Hereditary cancer-predisposing syndrome [RCV002358606]|Tumor predisposition syndrome 3 [RCV000549999] | uncertain significance | 7 | 124859082 | 124859082 | Human | 3 | alternate_id |
| 13467401 | CV456188 | single nucleotide variant | NM_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 significance | 7 | 124863547 | 124863547 | Human | 3 | alternate_id |
| 13489054 | CV456194 | single nucleotide variant | NM_015450.3(POT1):c.286A>G (p.Ile96Val) | Tumor predisposition syndrome 3 [RCV000532714] | uncertain significance | 7 | 124863610 | 124863610 | Human | 2 | alternate_id |
| 13469346 | CV456197 | single nucleotide variant | NM_015450.3(POT1):c.183C>T (p.Leu61=) | Hereditary cancer-predisposing syndrome [RCV002413629]|Tumor predisposition syndrome 3 [RCV001404143] | likely benign | 7 | 124870983 | 124870983 | Human | 3 | alternate_id |
| 13490429 | CV456205 | single nucleotide variant | NM_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 significance | 7 | 124892317 | 124892317 | Human | 3 | alternate_id |
| 13470343 | CV456387 | single nucleotide variant | NM_015450.3(POT1):c.1870A>G (p.Ile624Val) | Hereditary cancer-predisposing syndrome [RCV001013412]|Tumor predisposition syndrome 3 [RCV000546080]|not provided [RCV001764620] | uncertain significance | 7 | 124823997 | 124823997 | Human | 3 | alternate_id |
| 13474310 | CV456389 | single nucleotide variant | NM_015450.3(POT1):c.1568C>G (p.Ser523Trp) | Hereditary cancer-predisposing syndrome [RCV001012172]|Tumor predisposition syndrome 3 [RCV000548192] | uncertain significance | 7 | 124829280 | 124829280 | Human | 3 | alternate_id |
| 13475203 | CV456393 | single nucleotide variant | NM_015450.3(POT1):c.1260T>C (p.Asp420=) | Hereditary cancer-predisposing syndrome [RCV001010599]|Tumor predisposition syndrome 3 [RCV000548606] | likely benign | 7 | 124841082 | 124841082 | Human | 3 | alternate_id |
| 13475230 | CV456397 | single nucleotide variant | NM_015450.3(POT1):c.1227A>C (p.Pro409=) | Hereditary cancer-predisposing syndrome [RCV000573376]|Tumor predisposition syndrome 3 [RCV000550087] | benign|likely benign | 7 | 124841115 | 124841115 | Human | 3 | alternate_id |
| 13490747 | CV456409 | deletion | NM_015450.3(POT1):c.1147_1151del (p.Pro383fs) | Tumor predisposition syndrome 3 [RCV000556200] | pathogenic|uncertain significance | 7 | 124842819 | 124842823 | Human | 2 | alternate_id |
| 13483666 | CV456414 | single nucleotide variant | NM_015450.3(POT1):c.1147C>A (p.Pro383Thr) | Tumor predisposition syndrome 3 [RCV000529972] | uncertain significance | 7 | 124842823 | 124842823 | Human | 2 | alternate_id |
| 13489329 | CV456418 | single nucleotide variant | NM_015450.3(POT1):c.1078T>C (p.Tyr360His) | Hereditary cancer-predisposing syndrome [RCV001009865]|Tumor predisposition syndrome 3 [RCV000555287] | uncertain significance | 7 | 124842892 | 124842892 | Human | 3 | alternate_id |
| 13475094 | CV456420 | single nucleotide variant | NM_015450.3(POT1):c.1050C>T (p.Ala350=) | Hereditary cancer-predisposing syndrome [RCV001017133]|Tumor predisposition syndrome 3 [RCV000526124]|not specified [RCV001821621] | likely benign | 7 | 124842920 | 124842920 | Human | 3 | alternate_id |
| 13491664 | CV456422 | deletion | NM_015450.3(POT1):c.1006+9_1006+10del | Tumor predisposition syndrome 3 [RCV000534394] | likely benign | 7 | 124846932 | 124846933 | Human | 2 | name , alternate_id |
| 13494957 | CV456433 | single nucleotide variant | NM_015450.3(POT1):c.879A>G (p.Glu293=) | Hereditary cancer-predisposing syndrome [RCV002377165]|Tumor predisposition syndrome 3 [RCV000536786]|not specified [RCV000616213] | likely benign | 7 | 124851942 | 124851942 | Human | 3 | alternate_id |
| 13493894 | CV456442 | single nucleotide variant | NM_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 records | 7 | 124853023 | 124853023 | Human | 3 | alternate_id |
| 13483467 | CV456444 | single nucleotide variant | NM_015450.3(POT1):c.750A>C (p.Ser250=) | Hereditary cancer-predisposing syndrome [RCV004024305]|Tumor predisposition syndrome 3 [RCV001435862] | likely benign | 7 | 124853091 | 124853091 | Human | 3 | alternate_id |
| 13485525 | CV456446 | single nucleotide variant | NM_015450.3(POT1):c.716T>G (p.Leu239Arg) | Tumor predisposition syndrome 3 [RCV000530804] | uncertain significance | 7 | 124853125 | 124853125 | Human | 2 | alternate_id |
| 13474958 | CV456448 | single nucleotide variant | NM_015450.3(POT1):c.636G>C (p.Arg212=) | Hereditary cancer-predisposing syndrome [RCV002367950]|Tumor predisposition syndrome 3 [RCV001489208] | likely benign | 7 | 124859023 | 124859023 | Human | 3 | alternate_id |
| 13471599 | CV456449 | single nucleotide variant | NM_015450.3(POT1):c.512A>G (p.Lys171Arg) | Hereditary cancer-predisposing syndrome [RCV001023587]|Tumor predisposition syndrome 3 [RCV000546938]|not provided [RCV003148788] | uncertain significance | 7 | 124863384 | 124863384 | Human | 3 | alternate_id |
| 13473045 | CV456457 | single nucleotide variant | NM_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 provided | 7 | 124870933 | 124870933 | Human | 7 | alternate_id |
| 13496465 | CV456467 | single nucleotide variant | NM_015450.3(POT1):c.224A>G (p.Asn75Ser) | Hereditary cancer-predisposing syndrome [RCV001014921]|Tumor predisposition syndrome 3 [RCV000537871]|not provided [RCV001770479] | uncertain significance | 7 | 124870942 | 124870942 | Human | 3 | alternate_id |
| 13491448 | CV456474 | single nucleotide variant | NM_015450.3(POT1):c.197A>G (p.Tyr66Cys) | Hereditary cancer-predisposing syndrome [RCV002420519]|Tumor predisposition syndrome 3 [RCV000534227] | uncertain significance | 7 | 124870969 | 124870969 | Human | 3 | alternate_id |
| 13477074 | CV456685 | single nucleotide variant | NM_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] | benign | 7 | 124823983 | 124823983 | Human | 5 | alternate_id |
| 13476856 | CV456687 | single nucleotide variant | NM_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 significance | 7 | 124824026 | 124824026 | Human | 5 | alternate_id |
| 13484411 | CV456689 | single nucleotide variant | NM_015450.3(POT1):c.1834G>A (p.Val612Ile) | Hereditary cancer-predisposing syndrome [RCV001013327]|Tumor predisposition syndrome 3 [RCV000530320]|not provided [RCV004767383] | uncertain significance | 7 | 124824033 | 124824033 | Human | 3 | alternate_id |
| 13482493 | CV456691 | single nucleotide variant | NM_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 significance | 7 | 124824035 | 124824035 | Human | 3 | alternate_id |
| 13472838 | CV456700 | single nucleotide variant | NM_015450.3(POT1):c.1685C>T (p.Ser562Phe) | Tumor predisposition syndrome 3 [RCV000525105] | uncertain significance | 7 | 124827215 | 124827215 | Human | 2 | alternate_id |
| 13476129 | CV456701 | single nucleotide variant | NM_015450.3(POT1):c.1569G>A (p.Ser523=) | Hereditary cancer-predisposing syndrome [RCV002404555]|Tumor predisposition syndrome 3 [RCV001089448]|not provided [RCV000830865] | likely benign|uncertain significance | 7 | 124829279 | 124829279 | Human | 3 | alternate_id |
| 13492795 | CV456703 | single nucleotide variant | NM_015450.3(POT1):c.1562A>G (p.Lys521Arg) | Hereditary cancer-predisposing syndrome [RCV002404553]|Tumor predisposition syndrome 3 [RCV000557709]|not provided [RCV004767382] | uncertain significance | 7 | 124829286 | 124829286 | Human | 3 | alternate_id |
| 13468210 | CV456705 | deletion | NM_015450.3(POT1):c.1474_1491del (p.Phe492_Thr497del) | Tumor predisposition syndrome 3 [RCV000544377] | uncertain significance | 7 | 124835293 | 124835310 | Human | 2 | alternate_id |
| 13496100 | CV456708 | single nucleotide variant | NM_015450.3(POT1):c.1401G>A (p.Ser467=) | Hereditary cancer-predisposing syndrome [RCV001011340]|Tumor predisposition syndrome 3 [RCV000560124]|not specified [RCV000613878] | likely benign | 7 | 124835383 | 124835383 | Human | 3 | alternate_id |
| 13492961 | CV456711 | single nucleotide variant | NM_015450.3(POT1):c.1214C>T (p.Ala405Val) | Hereditary cancer-predisposing syndrome [RCV002358604]|Tumor predisposition syndrome 3 [RCV000535328]|not provided [RCV003332198] | uncertain significance | 7 | 124841128 | 124841128 | Human | 3 | alternate_id |
| 13475459 | CV456715 | single nucleotide variant | NM_015450.3(POT1):c.1211G>T (p.Gly404Val) | Hereditary cancer-predisposing syndrome [RCV000571239]|Tumor predisposition syndrome 3 [RCV000551136]|not provided [RCV003736812]|not specified [RCV000605208] | benign | 7 | 124841131 | 124841131 | Human | 3 | alternate_id |
| 13500644 | CV456723 | single nucleotide variant | NM_015450.3(POT1):c.1077A>G (p.Gln359=) | Hereditary cancer-predisposing syndrome [RCV001009856]|Tumor predisposition syndrome 3 [RCV000540548]|not provided [RCV003884635] | benign|likely benign | 7 | 124842893 | 124842893 | Human | 3 | alternate_id |
| 13475102 | CV456725 | single nucleotide variant | NM_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 benign | 7 | 124842948 | 124842948 | Human | 3 | alternate_id |
| 13478614 | CV456733 | single nucleotide variant | NM_015450.3(POT1):c.675C>A (p.Asn225Lys) | Hereditary cancer-predisposing syndrome [RCV002367951]|Tumor predisposition syndrome 3 [RCV000527703]|not provided [RCV001653920] | uncertain significance | 7 | 124858984 | 124858984 | Human | 3 | alternate_id |
| 13487888 | CV456735 | single nucleotide variant | NM_015450.3(POT1):c.448T>C (p.Leu150=) | Hereditary cancer-predisposing syndrome [RCV002330967]|Tumor predisposition syndrome 3 [RCV000532062] | likely benign | 7 | 124863448 | 124863448 | Human | 3 | alternate_id |
| 13493387 | CV456739 | single nucleotide variant | NM_015450.3(POT1):c.447A>G (p.Thr149=) | Hereditary cancer-predisposing syndrome [RCV002330966]|Tumor predisposition syndrome 3 [RCV001490919] | likely benign | 7 | 124863449 | 124863449 | Human | 3 | alternate_id |
| 13490490 | CV456740 | single nucleotide variant | NM_015450.3(POT1):c.347C>T (p.Pro116Leu) | Hereditary cancer-predisposing syndrome [RCV002456248]|See cases [RCV003985380]|Tumor predisposition syndrome 3 [RCV000533554] | likely pathogenic|uncertain significance | 7 | 124863549 | 124863549 | Human | 3 | alternate_id |
| 13488990 | CV456742 | single nucleotide variant | NM_015450.3(POT1):c.338C>T (p.Pro113Leu) | Tumor predisposition syndrome 3 [RCV000555114] | uncertain significance | 7 | 124863558 | 124863558 | Human | 2 | alternate_id |
| 13501316 | CV456750 | single nucleotide variant | NM_015450.3(POT1):c.240C>T (p.Arg80=) | Tumor predisposition syndrome 3 [RCV000540937] | likely benign | 7 | 124870926 | 124870926 | Human | 2 | alternate_id |
| 13474979 | CV456752 | single nucleotide variant | NM_015450.3(POT1):c.239G>A (p.Arg80His) | Hereditary cancer-predisposing syndrome [RCV001015408]|Tumor predisposition syndrome 3 [RCV000526075]|not provided [RCV001764621] | uncertain significance | 7 | 124870927 | 124870927 | Human | 3 | alternate_id |
| 13489508 | CV456755 | single nucleotide variant | NM_015450.3(POT1):c.77A>G (p.Tyr26Cys) | Hereditary cancer-predisposing syndrome [RCV002413630]|Tumor predisposition syndrome 3 [RCV000532949]|not specified [RCV003493643] | uncertain significance | 7 | 124892313 | 124892313 | Human | 3 | alternate_id |
| 13496499 | CV456815 | deletion | NC_000007.14:g.(?_124870905)_(124897179_?)del | Tumor predisposition syndrome 3 [RCV000560390] | uncertain significance | 7 | 124870905 | 124897179 | Human | 2 | alternate_id |
| 13471212 | CV457035 | single nucleotide variant | NM_015450.3(POT1):c.1803G>A (p.Pro601=) | Hereditary cancer-predisposing syndrome [RCV001013239]|Tumor predisposition syndrome 3 [RCV001083140]|not provided [RCV000827260] | likely benign | 7 | 124824064 | 124824064 | Human | 3 | alternate_id |
| 13487479 | CV457037 | single nucleotide variant | NM_015450.3(POT1):c.1797A>G (p.Ala599=) | Hereditary cancer-predisposing syndrome [RCV001013126]|Tumor predisposition syndrome 3 [RCV000531830]|not provided [RCV001560997] | likely benign | 7 | 124824070 | 124824070 | Human | 3 | alternate_id |
| 13485829 | CV457039 | single nucleotide variant | NM_015450.3(POT1):c.1756A>G (p.Ile586Val) | Hereditary cancer-predisposing syndrome [RCV002413628]|Tumor predisposition syndrome 3 [RCV000553402] | uncertain significance | 7 | 124825288 | 124825288 | Human | 3 | alternate_id |
| 13494117 | CV457047 | single nucleotide variant | NM_015450.3(POT1):c.1566A>G (p.Thr522=) | Hereditary cancer-predisposing syndrome [RCV002404554]|Tumor predisposition syndrome 3 [RCV000536157]|not specified [RCV001821627] | likely benign | 7 | 124829282 | 124829282 | Human | 3 | alternate_id |
| 13475885 | CV457068 | single nucleotide variant | NM_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 benign | 7 | 124841004 | 124841004 | Human | 5 | alternate_id |
| 13498344 | CV457074 | single nucleotide variant | NM_015450.3(POT1):c.1287A>C (p.Gln429His) | Hereditary cancer-predisposing syndrome [RCV002384245]|Tumor predisposition syndrome 3 [RCV000539166]|not provided [RCV004760592] | likely benign|uncertain significance | 7 | 124841055 | 124841055 | Human | 3 | alternate_id |
| 13469164 | CV457079 | single nucleotide variant | NM_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 significance | 7 | 124842843 | 124842843 | Human | 3 | alternate_id |
| 13473504 | CV457088 | single nucleotide variant | NM_015450.3(POT1):c.1035G>A (p.Arg345=) | Hereditary cancer-predisposing syndrome [RCV002395472]|Tumor predisposition syndrome 3 [RCV000547828] | likely benign | 7 | 124842935 | 124842935 | Human | 3 | alternate_id |
| 13502426 | CV457091 | single nucleotide variant | NM_015450.3(POT1):c.994C>T (p.Leu332=) | Hereditary cancer-predisposing syndrome [RCV001019940]|Tumor predisposition syndrome 3 [RCV000541996]|not specified [RCV002268165] | likely benign | 7 | 124846954 | 124846954 | Human | 3 | alternate_id |
| 13473503 | CV457099 | single nucleotide variant | NM_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] | benign | 7 | 124851897 | 124851897 | Human | 5 | alternate_id |
| 13480632 | CV457101 | single nucleotide variant | NM_015450.3(POT1):c.916A>T (p.Ile306Phe) | Tumor predisposition syndrome 3 [RCV000528611] | uncertain significance | 7 | 124851905 | 124851905 | Human | 2 | alternate_id |
| 13482005 | CV457108 | single nucleotide variant | NM_015450.3(POT1):c.889T>G (p.Leu297Val) | Hereditary cancer-predisposing syndrome [RCV001018462]|Tumor predisposition syndrome 3 [RCV000551674] | uncertain significance | 7 | 124851932 | 124851932 | Human | 3 | alternate_id |
| 13476323 | CV457110 | single nucleotide variant | NM_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 benign | 7 | 124852995 | 124852995 | Human | 3 | alternate_id |
| 13484894 | CV457118 | single nucleotide variant | NM_015450.3(POT1):c.709A>C (p.Ser237Arg) | Tumor predisposition syndrome 3 [RCV000552972] | uncertain significance | 7 | 124853132 | 124853132 | Human | 2 | alternate_id |
| 13465079 | CV457119 | indel | NM_015450.3(POT1):c.702+8_702+9delinsTG | Breast carcinoma [RCV001262967]|Tumor predisposition syndrome 3 [RCV000542608] | benign|likely benign | 7 | 124858948 | 124858949 | Human | | name , alternate_id |
| 13496289 | CV457120 | single nucleotide variant | NM_015450.3(POT1):c.592A>C (p.Ile198Leu) | Hereditary cancer-predisposing syndrome [RCV003302883]|Tumor predisposition syndrome 3 [RCV000560251]|not provided [RCV003126818] | uncertain significance | 7 | 124859067 | 124859067 | Human | 3 | alternate_id |
| 13492659 | CV457122 | single nucleotide variant | NM_015450.3(POT1):c.576A>G (p.Pro192=) | Familial melanoma [RCV005367403]|Hereditary cancer-predisposing syndrome [RCV002358605]|Tumor predisposition syndrome 3 [RCV000535117] | likely benign | 7 | 124859083 | 124859083 | Human | 3 | alternate_id |
| 13492148 | CV457127 | single nucleotide variant | NM_015450.3(POT1):c.563G>C (p.Arg188Thr) | Hereditary cancer-predisposing syndrome [RCV002350383]|Tumor predisposition syndrome 3 [RCV000557222] | uncertain significance | 7 | 124859096 | 124859096 | Human | 3 | alternate_id |
| 13498726 | CV457128 | single nucleotide variant | NM_015450.3(POT1):c.272A>C (p.Lys91Thr) | Tumor predisposition syndrome 3 [RCV000539391] | uncertain significance | 7 | 124863624 | 124863624 | Human | 2 | alternate_id |
| 13471721 | CV457135 | single nucleotide variant | NM_015450.3(POT1):c.268A>G (p.Lys90Glu) | Hereditary cancer-predisposing syndrome [RCV004649206]|Tumor predisposition syndrome 3 [RCV000524553] | likely pathogenic|uncertain significance | 7 | 124863628 | 124863628 | Human | 3 | alternate_id |
| 13471822 | CV457143 | single nucleotide variant | NM_015450.3(POT1):c.211A>G (p.Ile71Val) | Hereditary cancer-predisposing syndrome [RCV000565840]|Tumor predisposition syndrome 3 [RCV000527546] | likely benign|uncertain significance | 7 | 124870955 | 124870955 | Human | 3 | alternate_id |
| 13476418 | CV457146 | single nucleotide variant | NM_015450.3(POT1):c.205C>T (p.Leu69Phe) | Hereditary cancer-predisposing syndrome [RCV003159929]|Tumor predisposition syndrome 3 [RCV000549161] | uncertain significance | 7 | 124870961 | 124870961 | Human | 3 | alternate_id |
| 13481183 | CV457149 | single nucleotide variant | NM_015450.3(POT1):c.126T>G (p.Asp42Glu) | Hereditary cancer-predisposing syndrome [RCV002448787]|Tumor predisposition syndrome 3 [RCV000528860] | pathogenic|likely pathogenic|uncertain significance | 7 | 124871040 | 124871040 | Human | 3 | alternate_id |
| 13469159 | CV457155 | single nucleotide variant | NM_015450.3(POT1):c.114C>G (p.Ser38Arg) | Hereditary cancer-predisposing syndrome [RCV001017481]|Tumor predisposition syndrome 3 [RCV000545016] | uncertain significance | 7 | 124892276 | 124892276 | Human | 3 | alternate_id |
| 13471020 | CV474473 | single nucleotide variant | NM_015450.3(POT1):c.1606G>A (p.Val536Ile) | Hereditary cancer-predisposing syndrome [RCV000563589]|Tumor predisposition syndrome 3 [RCV000797044] | uncertain significance | 7 | 124827294 | 124827294 | Human | 3 | alternate_id |
| 13502981 | CV474477 | single nucleotide variant | NM_015450.3(POT1):c.1030G>A (p.Glu344Lys) | Hereditary cancer-predisposing syndrome [RCV000576006]|Tumor predisposition syndrome 3 [RCV001229099] | uncertain significance | 7 | 124842940 | 124842940 | Human | 3 | alternate_id |
| 13481100 | CV474483 | single nucleotide variant | NM_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 significance | 7 | 124824053 | 124824053 | Human | 5 | alternate_id |
| 13502296 | CV474485 | single nucleotide variant | NM_015450.3(POT1):c.1742A>G (p.Lys581Arg) | Hereditary cancer-predisposing syndrome [RCV000575013]|Tumor predisposition syndrome 3 [RCV000705744]|not provided [RCV005000320] | uncertain significance | 7 | 124825302 | 124825302 | Human | 3 | alternate_id |
| 13479046 | CV474487 | single nucleotide variant | NM_015450.3(POT1):c.1359T>C (p.Leu453=) | Hereditary cancer-predisposing syndrome [RCV000566010]|Tumor predisposition syndrome 3 [RCV000875308] | likely benign | 7 | 124840983 | 124840983 | Human | 3 | alternate_id |
| 13467250 | CV474488 | single nucleotide variant | NM_015450.3(POT1):c.973G>A (p.Glu325Lys) | Hereditary cancer-predisposing syndrome [RCV000561935]|Tumor predisposition syndrome 3 [RCV001233418] | likely benign|uncertain significance | 7 | 124846975 | 124846975 | Human | 3 | alternate_id |
| 13478544 | CV474492 | single nucleotide variant | NM_015450.3(POT1):c.703G>A (p.Val235Ile) | Hereditary cancer-predisposing syndrome [RCV000565856]|Tumor predisposition syndrome 3 [RCV000652201]|not provided [RCV002275059] | likely benign|uncertain significance | 7 | 124853138 | 124853138 | Human | 3 | alternate_id |
| 13466075 | CV474496 | single nucleotide variant | NM_015450.3(POT1):c.1630A>G (p.Met544Val) | Hereditary cancer-predisposing syndrome [RCV000561531]|Tumor predisposition syndrome 3 [RCV000687246] | uncertain significance | 7 | 124827270 | 124827270 | Human | 3 | alternate_id |
| 13490795 | CV474497 | single nucleotide variant | NM_015450.3(POT1):c.495T>C (p.Thr165=) | Hereditary cancer-predisposing syndrome [RCV000569788]|Tumor predisposition syndrome 3 [RCV001485613] | likely benign | 7 | 124863401 | 124863401 | Human | 3 | alternate_id |
| 13493266 | CV474498 | single nucleotide variant | NM_015450.3(POT1):c.1594G>C (p.Ala532Pro) | Hereditary cancer-predisposing syndrome [RCV000570928]|Tumor predisposition syndrome 3 [RCV001346858] | uncertain significance | 7 | 124829254 | 124829254 | Human | 3 | alternate_id |
| 13468818 | CV474502 | single nucleotide variant | NM_015450.3(POT1):c.1441G>A (p.Glu481Lys) | Hereditary cancer-predisposing syndrome [RCV000562465]|Tumor predisposition syndrome 3 [RCV000652213]|not provided [RCV001800793] | uncertain significance | 7 | 124835343 | 124835343 | Human | 3 | alternate_id |
| 13498217 | CV474505 | single nucleotide variant | NM_015450.3(POT1):c.475A>G (p.Met159Val) | Hereditary cancer-predisposing syndrome [RCV000573222]|Tumor predisposition syndrome 3 [RCV000652226]|not provided [RCV001823148] | uncertain significance | 7 | 124863421 | 124863421 | Human | 3 | alternate_id |
| 13490461 | CV474507 | single nucleotide variant | NM_015450.3(POT1):c.255G>A (p.Lys85=) | Hereditary cancer-predisposing syndrome [RCV000569645]|Tumor predisposition syndrome 3 [RCV000820144] | pathogenic|uncertain significance | 7 | 124870911 | 124870911 | Human | 3 | alternate_id |
| 13482380 | CV474508 | single nucleotide variant | NM_015450.3(POT1):c.43A>C (p.Asn15His) | Hereditary cancer-predisposing syndrome [RCV000567007]|Tumor predisposition syndrome 3 [RCV001062689]|not provided [RCV002469208] | uncertain significance | 7 | 124892347 | 124892347 | Human | 3 | alternate_id |
| 13502910 | CV474509 | single nucleotide variant | NM_015450.3(POT1):c.841A>G (p.Ser281Gly) | Hereditary cancer-predisposing syndrome [RCV000575867]|Tumor predisposition syndrome 3 [RCV001853792]|not provided [RCV005091439] | uncertain significance | 7 | 124853000 | 124853000 | Human | 3 | alternate_id |
| 13503477 | CV474596 | single nucleotide variant | NM_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 provided | 7 | 124829289 | 124829289 | Human | 8 | alternate_id |
| 13472958 | CV474598 | single nucleotide variant | NM_015450.3(POT1):c.1551C>T (p.Ser517=) | Hereditary cancer-predisposing syndrome [RCV000564214]|Tumor predisposition syndrome 3 [RCV005091438] | likely benign | 7 | 124829297 | 124829297 | Human | 3 | alternate_id |
| 13475513 | CV474602 | single nucleotide variant | NM_015450.3(POT1):c.1532C>T (p.Ser511Phe) | Hereditary cancer-predisposing syndrome [RCV000564958]|Tumor predisposition syndrome 3 [RCV002304215] | uncertain significance | 7 | 124829316 | 124829316 | Human | 3 | alternate_id |
| 13472188 | CV474603 | single nucleotide variant | NM_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 significance | 7 | 124841156 | 124841156 | Human | 5 | alternate_id |
| 13495680 | CV474604 | single nucleotide variant | NM_015450.3(POT1):c.1097T>C (p.Leu366Ser) | Hereditary cancer-predisposing syndrome [RCV000572067]|Tumor predisposition syndrome 3 [RCV001226378] | uncertain significance | 7 | 124842873 | 124842873 | Human | 3 | alternate_id |
| 13482913 | CV474613 | single nucleotide variant | NM_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 significance | 7 | 124863370 | 124863370 | Human | 3 | alternate_id |
| 13502790 | CV474614 | single nucleotide variant | NM_015450.3(POT1):c.315G>A (p.Thr105=) | Hereditary cancer-predisposing syndrome [RCV000575650]|Tumor predisposition syndrome 3 [RCV000652249]|not specified [RCV003321683] | likely benign | 7 | 124863581 | 124863581 | Human | 3 | alternate_id |
| 13527453 | CV501793 | single nucleotide variant | NM_015450.3(POT1):c.1096T>C (p.Leu366=) | Hereditary cancer-predisposing syndrome [RCV003162739]|Tumor predisposition syndrome 3 [RCV000939119]|not specified [RCV000605185] | likely benign | 7 | 124842874 | 124842874 | Human | 3 | alternate_id |
| 13541129 | CV502187 | single nucleotide variant | NM_015450.3(POT1):c.972C>T (p.Tyr324=) | Hereditary cancer-predisposing syndrome [RCV001019685]|Tumor predisposition syndrome 3 [RCV000652236]|not provided [RCV001712676] | likely benign | 7 | 124846976 | 124846976 | Human | 3 | alternate_id |
| 13624381 | CV522092 | single nucleotide variant | NM_015450.3(POT1):c.1819A>G (p.Ile607Val) | Hereditary cancer-predisposing syndrome [RCV004025848]|Tumor predisposition syndrome 3 [RCV000652203] | uncertain significance | 7 | 124824048 | 124824048 | Human | 3 | alternate_id |
| 13624401 | CV522095 | microsatellite | NM_015450.3(POT1):c.1765_1766del (p.Met589fs) | Hereditary cancer-predisposing syndrome [RCV002397311]|Tumor predisposition syndrome 3 [RCV000652228] | uncertain significance | 7 | 124825278 | 124825279 | Human | | alternate_id |
| 13624474 | CV522105 | single nucleotide variant | NM_015450.3(POT1):c.1233C>T (p.Val411=) | Hereditary cancer-predisposing syndrome [RCV002360657]|Tumor predisposition syndrome 3 [RCV000652247] | likely benign | 7 | 124841109 | 124841109 | Human | 3 | alternate_id |
| 13624373 | CV522106 | single nucleotide variant | NM_015450.3(POT1):c.1197A>G (p.Ile399Met) | Hereditary cancer-predisposing syndrome [RCV003303076]|Tumor predisposition syndrome 3 [RCV000652194] | uncertain significance | 7 | 124841145 | 124841145 | Human | 3 | alternate_id |
| 13624455 | CV522116 | single nucleotide variant | NM_015450.3(POT1):c.1014A>T (p.Thr338=) | Hereditary cancer-predisposing syndrome [RCV004025851]|Tumor predisposition syndrome 3 [RCV000652244] | likely benign | 7 | 124842956 | 124842956 | Human | 3 | alternate_id |
| 13624425 | CV522118 | single nucleotide variant | NM_015450.3(POT1):c.996A>G (p.Leu332=) | Hereditary cancer-predisposing syndrome [RCV002386112]|Tumor predisposition syndrome 3 [RCV000652230]|not specified [RCV003321709] | likely benign | 7 | 124846952 | 124846952 | Human | 3 | alternate_id |
| 13624442 | CV522122 | single nucleotide variant | NM_015450.3(POT1):c.966A>G (p.Ser322=) | Hereditary cancer-predisposing syndrome [RCV002369755]|Tumor predisposition syndrome 3 [RCV000652232] | likely benign | 7 | 124846982 | 124846982 | Human | 3 | alternate_id |
| 13624376 | CV522124 | single nucleotide variant | NM_015450.3(POT1):c.779G>A (p.Ser260Asn) | Hereditary cancer-predisposing syndrome [RCV002406467]|Tumor predisposition syndrome 3 [RCV000652197] | likely benign|uncertain significance | 7 | 124853062 | 124853062 | Human | 3 | alternate_id |
| 13624441 | CV522126 | single nucleotide variant | NM_015450.3(POT1):c.618T>C (p.Asp206=) | Hereditary cancer-predisposing syndrome [RCV002358887]|Tumor predisposition syndrome 3 [RCV000652231] | likely benign | 7 | 124859041 | 124859041 | Human | 3 | alternate_id |
| 13624386 | CV522131 | single nucleotide variant | NM_015450.3(POT1):c.425C>T (p.Thr142Ile) | Tumor predisposition syndrome 3 [RCV000652209] | uncertain significance | 7 | 124863471 | 124863471 | Human | 2 | alternate_id |
| 13624400 | CV522132 | single nucleotide variant | NM_015450.3(POT1):c.418G>A (p.Ala140Thr) | Tumor predisposition syndrome 3 [RCV000652227] | uncertain significance | 7 | 124863478 | 124863478 | Human | 2 | alternate_id |
| 13624475 | CV522148 | single nucleotide variant | NM_015450.3(POT1):c.264A>G (p.Val88=) | Hereditary cancer-predisposing syndrome [RCV002458146]|Tumor predisposition syndrome 3 [RCV000652250]|not provided [RCV001538308] | likely benign | 7 | 124863632 | 124863632 | Human | 3 | alternate_id |
| 13624382 | CV522149 | single nucleotide variant | NM_015450.3(POT1):c.238C>T (p.Arg80Cys) | Hereditary cancer-predisposing syndrome [RCV001015372]|Tumor predisposition syndrome 3 [RCV000652205]|not provided [RCV002225704] | uncertain significance | 7 | 124870928 | 124870928 | Human | 3 | alternate_id |
| 13624392 | CV522154 | duplication | NM_015450.3(POT1):c.161dup (p.Asn54fs) | Tumor predisposition syndrome 3 [RCV000652217]|not provided [RCV002263910] | pathogenic|likely pathogenic|uncertain significance | 7 | 124871004 | 124871005 | Human | 2 | alternate_id |
| 13624374 | CV522362 | single nucleotide variant | NM_015450.3(POT1):c.1802C>T (p.Pro601Leu) | Hereditary cancer-predisposing syndrome [RCV001013235]|Tumor predisposition syndrome 3 [RCV000652195] | uncertain significance | 7 | 124824065 | 124824065 | Human | 3 | alternate_id |
| 13624389 | CV522368 | single nucleotide variant | NM_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 significance | 7 | 124841159 | 124841159 | Human | 3 | alternate_id |
| 13624450 | CV522371 | single nucleotide variant | NM_015450.3(POT1):c.1104A>G (p.Ser368=) | Hereditary cancer-predisposing syndrome [RCV003163001]|Tumor predisposition syndrome 3 [RCV000652242] | likely benign | 7 | 124842866 | 124842866 | Human | 3 | alternate_id |
| 13624445 | CV522372 | single nucleotide variant | NM_015450.3(POT1):c.942C>T (p.Ser314=) | Tumor predisposition syndrome 3 [RCV000652235] | likely benign | 7 | 124851879 | 124851879 | Human | 2 | alternate_id |
| 13624399 | CV522378 | single nucleotide variant | NM_015450.3(POT1):c.817C>T (p.Arg273Trp) | Hereditary cancer-predisposing syndrome [RCV002424532]|Tumor predisposition syndrome 3 [RCV000652224] | uncertain significance | 7 | 124853024 | 124853024 | Human | 3 | alternate_id |
| 13624451 | CV522387 | single nucleotide variant | NM_015450.3(POT1):c.630C>T (p.Ile210=) | Hereditary cancer-predisposing syndrome [RCV002360656]|Tumor predisposition syndrome 3 [RCV000652243] | likely benign | 7 | 124859029 | 124859029 | Human | 3 | alternate_id |
| 13624377 | CV522389 | single nucleotide variant | NM_015450.3(POT1):c.343A>C (p.Ile115Leu) | Hereditary cancer-predisposing syndrome [RCV001020309]|Tumor predisposition syndrome 3 [RCV000652198] | uncertain significance | 7 | 124863553 | 124863553 | Human | 3 | alternate_id |
| 13624486 | CV522390 | single nucleotide variant | NM_015450.3(POT1):c.246C>T (p.His82=) | Tumor predisposition syndrome 3 [RCV000652253] | likely benign | 7 | 124870920 | 124870920 | Human | 2 | alternate_id |
| 13624473 | CV522391 | single nucleotide variant | NM_015450.3(POT1):c.234T>A (p.Ile78=) | Hereditary cancer-predisposing syndrome [RCV002442353]|Tumor predisposition syndrome 3 [RCV000652246] | likely benign | 7 | 124870932 | 124870932 | Human | 3 | alternate_id |
| 13624444 | CV522458 | single nucleotide variant | NM_015450.3(POT1):c.1284T>C (p.Asn428=) | Hereditary cancer-predisposing syndrome [RCV002257915]|Tumor predisposition syndrome 3 [RCV000652234] | likely benign | 7 | 124841058 | 124841058 | Human | 3 | alternate_id |
| 13624472 | CV522460 | single nucleotide variant | NM_015450.3(POT1):c.1251A>G (p.Ser417=) | Hereditary cancer-predisposing syndrome [RCV002406470]|Tumor predisposition syndrome 3 [RCV000652245] | likely benign | 7 | 124841091 | 124841091 | Human | 3 | alternate_id |
| 13624383 | CV522463 | duplication | NM_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 significance | 7 | 124842898 | 124842899 | Human | 3 | alternate_id |
| 13624397 | CV522468 | single nucleotide variant | NM_015450.3(POT1):c.913G>A (p.Val305Ile) | Hereditary cancer-predisposing syndrome [RCV001018913]|Tumor predisposition syndrome 3 [RCV000652222] | uncertain significance | 7 | 124851908 | 124851908 | Human | 3 | alternate_id |
| 13624394 | CV522471 | single nucleotide variant | NM_015450.3(POT1):c.798T>A (p.His266Gln) | Tumor predisposition syndrome 3 [RCV000652219] | uncertain significance | 7 | 124853043 | 124853043 | Human | 2 | alternate_id |
| 13624398 | CV522472 | single nucleotide variant | NM_015450.3(POT1):c.763A>C (p.Asn255His) | Hereditary cancer-predisposing syndrome [RCV001026651]|Tumor predisposition syndrome 3 [RCV000652223]|not provided [RCV001756099] | likely benign|uncertain significance | 7 | 124853078 | 124853078 | Human | 3 | alternate_id |
| 13624379 | CV522476 | single nucleotide variant | NM_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 significance | 7 | 124853094 | 124853094 | Human | 3 | alternate_id |
| 13624443 | CV522478 | single nucleotide variant | NM_015450.3(POT1):c.697C>T (p.Leu233=) | Hereditary cancer-predisposing syndrome [RCV004025850]|Tumor predisposition syndrome 3 [RCV000652233] | likely benign | 7 | 124858962 | 124858962 | Human | 3 | alternate_id |
| 13624390 | CV522490 | single nucleotide variant | NM_015450.3(POT1):c.653T>C (p.Ile218Thr) | Hereditary cancer-predisposing syndrome [RCV002360655]|Tumor predisposition syndrome 3 [RCV000652215]|not provided [RCV004768512] | uncertain significance | 7 | 124859006 | 124859006 | Human | 3 | alternate_id |
| 13624388 | CV522493 | single nucleotide variant | NM_015450.3(POT1):c.623G>A (p.Ser208Asn) | Hereditary cancer-predisposing syndrome [RCV001025034]|Tumor predisposition syndrome 3 [RCV000652212]|not provided [RCV003159149] | uncertain significance | 7 | 124859036 | 124859036 | Human | 3 | alternate_id |
| 13624391 | CV522499 | single nucleotide variant | NM_015450.3(POT1):c.131G>A (p.Cys44Tyr) | Hereditary cancer-predisposing syndrome [RCV004025849]|Tumor predisposition syndrome 3 [RCV000652216] | uncertain significance | 7 | 124871035 | 124871035 | Human | 3 | alternate_id |
| 13624421 | CV522814 | single nucleotide variant | NM_015450.3(POT1):c.1871T>C (p.Ile624Thr) | Tumor predisposition syndrome 3 [RCV000652199] | uncertain significance | 7 | 124823996 | 124823996 | Human | 2 | alternate_id |
| 13624396 | CV522818 | single nucleotide variant | NM_015450.3(POT1):c.1864T>C (p.Tyr622His) | Hereditary cancer-predisposing syndrome [RCV002406468]|Tumor predisposition syndrome 3 [RCV000652221]|not provided [RCV003478381] | uncertain significance | 7 | 124824003 | 124824003 | Human | 3 | alternate_id |
| 13624447 | CV522823 | single nucleotide variant | NM_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 significance | 7 | 124825337 | 124825337 | Human | 5 | alternate_id |
| 13624448 | CV522827 | single nucleotide variant | NM_015450.3(POT1):c.1662A>C (p.Val554=) | Hereditary cancer-predisposing syndrome [RCV002397312]|Tumor predisposition syndrome 3 [RCV000652240] | likely benign | 7 | 124827238 | 124827238 | Human | 3 | alternate_id |
| 13624387 | CV522832 | single nucleotide variant | NM_015450.3(POT1):c.1518T>A (p.Cys506Ter) | Tumor predisposition syndrome 3 [RCV000652210] | pathogenic|uncertain significance | 7 | 124829330 | 124829330 | Human | 2 | alternate_id |
| 13624375 | CV522835 | single nucleotide variant | NM_015450.3(POT1):c.1381A>T (p.Ser461Cys) | Tumor predisposition syndrome 3 [RCV000652196] | uncertain significance | 7 | 124835403 | 124835403 | Human | 2 | alternate_id |
| 13624395 | CV522847 | single nucleotide variant | NM_015450.3(POT1):c.1294C>T (p.Arg432Ter) | Hereditary cancer-predisposing syndrome [RCV004649253]|Hoyeraal-Hreidarsson syndrome [RCV003991537]|Tumor predisposition syndrome 3 [RCV000652220] | pathogenic|uncertain significance | 7 | 124841048 | 124841048 | Human | 4 | alternate_id |
| 13624485 | CV522848 | single nucleotide variant | NM_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 significance | 7 | 124841059 | 124841059 | Human | 3 | alternate_id |
| 13624384 | CV522853 | single nucleotide variant | NM_015450.3(POT1):c.688G>A (p.Ala230Thr) | Hereditary cancer-predisposing syndrome [RCV002360654]|Tumor predisposition syndrome 3 [RCV000652207] | uncertain significance | 7 | 124858971 | 124858971 | Human | 3 | alternate_id |
| 13624393 | CV522856 | single nucleotide variant | NM_015450.3(POT1):c.331G>A (p.Gly111Arg) | Tumor predisposition syndrome 3 [RCV000652218] | uncertain significance | 7 | 124863565 | 124863565 | Human | 2 | alternate_id |
| 13705201 | CV536322 | deletion | NM_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 significance | 7 | 124863614 | 124863615 | Human | 3 | alternate_id |
| 13819801 | CV561029 | deletion | NC_000007.14:g.(?_124852966)_(124853144_?)del | Tumor predisposition syndrome 3 [RCV000708469] | pathogenic|uncertain significance | 7 | 124852966 | 124853144 | Human | 2 | alternate_id |
| 13820039 | CV561249 | single nucleotide variant | NM_015450.3(POT1):c.1829A>G (p.Tyr610Cys) | Hereditary cancer-predisposing syndrome [RCV002406592]|Tumor predisposition syndrome 3 [RCV000694713] | uncertain significance | 7 | 124824038 | 124824038 | Human | 3 | alternate_id |
| 13817499 | CV561253 | single nucleotide variant | NM_015450.3(POT1):c.1322A>G (p.Asn441Ser) | Hereditary cancer-predisposing syndrome [RCV001011011]|Tumor predisposition syndrome 3 [RCV000693013] | uncertain significance | 7 | 124841020 | 124841020 | Human | 3 | alternate_id |
| 13822219 | CV561260 | single nucleotide variant | NM_015450.3(POT1):c.1069C>G (p.Pro357Ala) | Hereditary cancer-predisposing syndrome [RCV002255513]|Tumor predisposition syndrome 3 [RCV000697013] | uncertain significance | 7 | 124842901 | 124842901 | Human | 3 | alternate_id |
| 13803605 | CV561262 | single nucleotide variant | NM_015450.3(POT1):c.1013C>T (p.Thr338Ile) | Hereditary cancer-predisposing syndrome [RCV004026471]|Tumor predisposition syndrome 3 [RCV000699334] | uncertain significance | 7 | 124842957 | 124842957 | Human | 3 | alternate_id |
| 13804964 | CV561264 | single nucleotide variant | NM_015450.3(POT1):c.768G>C (p.Gln256His) | Hereditary cancer-predisposing syndrome [RCV002397440]|Tumor predisposition syndrome 3 [RCV000699839] | uncertain significance | 7 | 124853073 | 124853073 | Human | 3 | alternate_id |
| 13813295 | CV561266 | single nucleotide variant | NM_015450.3(POT1):c.617A>G (p.Asp206Gly) | Hereditary cancer-predisposing syndrome [RCV001024971]|Tumor predisposition syndrome 3 [RCV000704267] | uncertain significance | 7 | 124859042 | 124859042 | Human | 3 | alternate_id |
| 13811188 | CV561268 | single nucleotide variant | NM_015450.3(POT1):c.463G>A (p.Asp155Asn) | Hereditary cancer-predisposing syndrome [RCV002334366]|Tumor predisposition syndrome 3 [RCV000702962] | likely benign|uncertain significance | 7 | 124863433 | 124863433 | Human | 3 | alternate_id |
| 13812790 | CV561272 | single nucleotide variant | NM_015450.3(POT1):c.409C>T (p.Arg137Cys) | Hereditary cancer-predisposing syndrome [RCV002325372]|Tumor predisposition syndrome 3 [RCV000689726] | uncertain significance | 7 | 124863487 | 124863487 | Human | 3 | alternate_id |
| 13816929 | CV561277 | single nucleotide variant | NM_015450.3(POT1):c.323G>C (p.Gly108Ala) | Hereditary cancer-predisposing syndrome [RCV002325385]|Tumor predisposition syndrome 3 [RCV000692661] | uncertain significance | 7 | 124863573 | 124863573 | Human | 3 | alternate_id |
| 13813566 | CV561328 | deletion | NM_015450.3(POT1):c.1858_1860del (p.Ile620del) | Hereditary cancer-predisposing syndrome [RCV001013360]|Tumor predisposition syndrome 3 [RCV000690245] | uncertain significance | 7 | 124824007 | 124824009 | Human | 3 | alternate_id |
| 13821540 | CV561333 | single nucleotide variant | NM_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 significance | 7 | 124841086 | 124841086 | Human | 3 | alternate_id |
| 13815557 | CV561342 | single nucleotide variant | NM_015450.3(POT1):c.1229A>G (p.Asp410Gly) | Hereditary cancer-predisposing syndrome [RCV002360827]|Tumor predisposition syndrome 3 [RCV000705781] | uncertain significance | 7 | 124841113 | 124841113 | Human | 3 | alternate_id |
| 13801272 | CV561345 | single nucleotide variant | NM_015450.3(POT1):c.1123T>A (p.Phe375Ile) | Hereditary cancer-predisposing syndrome [RCV004026413]|Tumor predisposition syndrome 3 [RCV000697711] | uncertain significance | 7 | 124842847 | 124842847 | Human | 3 | alternate_id |
| 13821401 | CV561352 | single nucleotide variant | NM_015450.3(POT1):c.1106A>G (p.Tyr369Cys) | Hereditary cancer-predisposing syndrome [RCV002257937]|Tumor predisposition syndrome 3 [RCV000695832]|Tumor predisposition syndrome 3 [RCV005046947] | uncertain significance | 7 | 124842864 | 124842864 | Human | 5 | alternate_id |
| 13812876 | CV561353 | single nucleotide variant | NM_015450.3(POT1):c.151G>A (p.Asp51Asn) | Hereditary cancer-predisposing syndrome [RCV003994083]|Tumor predisposition syndrome 3 [RCV000689791] | likely pathogenic|uncertain significance | 7 | 124871015 | 124871015 | Human | 3 | alternate_id |
| 13812988 | CV561361 | single nucleotide variant | NM_015450.3(POT1):c.125A>G (p.Asp42Gly) | Hereditary cancer-predisposing syndrome [RCV002424611]|Tumor predisposition syndrome 3 [RCV000689836] | uncertain significance | 7 | 124871041 | 124871041 | Human | 3 | alternate_id |
| 13819536 | CV561373 | single nucleotide variant | NM_015450.3(POT1):c.122C>T (p.Thr41Ile) | Tumor predisposition syndrome 3 [RCV000694392] | uncertain significance | 7 | 124892268 | 124892268 | Human | 2 | alternate_id |
| 13819210 | CV563841 | duplication | NC_000007.13:g.(?_124464010)_(124499172_?)dup | Tumor predisposition syndrome 3 [RCV000708168] | uncertain significance | 7 | 124823956 | 124859118 | Human | 2 | alternate_id |
| 13809431 | CV563986 | single nucleotide variant | NM_015450.3(POT1):c.1882A>G (p.Thr628Ala) | Tumor predisposition syndrome 3 [RCV000702128] | uncertain significance | 7 | 124823985 | 124823985 | Human | 2 | alternate_id |
| 13803742 | CV563989 | single nucleotide variant | NM_015450.3(POT1):c.1492A>G (p.Ile498Val) | Hereditary cancer-predisposing syndrome [RCV002388299]|Tumor predisposition syndrome 3 [RCV000699380] | likely benign|uncertain significance | 7 | 124835292 | 124835292 | Human | 3 | alternate_id |
| 13821639 | CV563991 | single nucleotide variant | NM_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 significance | 7 | 124835342 | 124835342 | Human | 3 | alternate_id |
| 13816685 | CV563995 | single nucleotide variant | NM_015450.3(POT1):c.1199T>C (p.Ile400Thr) | Hereditary cancer-predisposing syndrome [RCV002343571]|Tumor predisposition syndrome 3 [RCV000706476]|not provided [RCV003318632] | uncertain significance | 7 | 124841143 | 124841143 | Human | 3 | alternate_id |
| 13802951 | CV563998 | deletion | NM_015450.3(POT1):c.1071del (p.Gln358fs) | Long telomere syndrome [RCV003329328]|Tumor predisposition syndrome 3 [RCV000698781] | pathogenic|uncertain significance | 7 | 124842899 | 124842899 | Human | 2 | alternate_id |
| 13818098 | CV564000 | single nucleotide variant | NM_015450.3(POT1):c.1021C>G (p.Gln341Glu) | Hereditary cancer-predisposing syndrome [RCV001017029]|Tumor predisposition syndrome 3 [RCV000707458] | uncertain significance | 7 | 124842949 | 124842949 | Human | 3 | alternate_id |
| 13810159 | CV564003 | single nucleotide variant | NM_015450.3(POT1):c.839A>G (p.Glu280Gly) | Hereditary cancer-predisposing syndrome [RCV003303180]|Tumor predisposition syndrome 3 [RCV000702430] | uncertain significance | 7 | 124853002 | 124853002 | Human | 3 | alternate_id |
| 13821943 | CV564011 | single nucleotide variant | NM_015450.3(POT1):c.608T>G (p.Leu203Arg) | Tumor predisposition syndrome 3 [RCV000696594] | uncertain significance | 7 | 124859051 | 124859051 | Human | 2 | alternate_id |
| 13815571 | CV564012 | single nucleotide variant | NM_015450.3(POT1):c.365A>G (p.Tyr122Cys) | Hereditary cancer-predisposing syndrome [RCV004025098]|Tumor predisposition syndrome 3 [RCV000691688]|not provided [RCV004808843] | likely benign|uncertain significance | 7 | 124863531 | 124863531 | Human | 3 | alternate_id |
| 13806884 | CV566345 | single nucleotide variant | NM_015450.3(POT1):c.1766T>C (p.Met589Thr) | Hereditary cancer-predisposing syndrome [RCV002397448]|Tumor predisposition syndrome 3 [RCV000700780]|not provided [RCV004777845] | uncertain significance | 7 | 124825278 | 124825278 | Human | 3 | alternate_id |
| 13817152 | CV566348 | single nucleotide variant | NM_015450.3(POT1):c.1612C>G (p.Leu538Val) | Hereditary cancer-predisposing syndrome [RCV001012420]|Tumor predisposition syndrome 3 [RCV000706827]|not provided [RCV003489839] | uncertain significance | 7 | 124827288 | 124827288 | Human | 3 | alternate_id |
| 13820529 | CV566351 | single nucleotide variant | NM_015450.3(POT1):c.1580C>T (p.Ser527Phe) | Tumor predisposition syndrome 3 [RCV000694946] | uncertain significance | 7 | 124829268 | 124829268 | Human | 2 | alternate_id |
| 13822369 | CV566358 | single nucleotide variant | NM_015450.3(POT1):c.1536A>G (p.Ile512Met) | Hereditary cancer-predisposing syndrome [RCV004649277]|Tumor predisposition syndrome 3 [RCV000697185] | uncertain significance | 7 | 124829312 | 124829312 | Human | 3 | alternate_id |
| 13814271 | CV566360 | single nucleotide variant | NM_015450.3(POT1):c.1303G>A (p.Ala435Thr) | Hereditary cancer-predisposing syndrome [RCV002386270]|Tumor predisposition syndrome 3 [RCV000704926]|not provided [RCV003489836] | likely benign|uncertain significance | 7 | 124841039 | 124841039 | Human | 3 | alternate_id |
| 13801391 | CV566371 | single nucleotide variant | NM_015450.3(POT1):c.1259A>T (p.Asp420Val) | Tumor predisposition syndrome 3 [RCV000697801] | uncertain significance | 7 | 124841083 | 124841083 | Human | 2 | alternate_id |
| 13807987 | CV566373 | single nucleotide variant | NM_015450.3(POT1):c.598G>A (p.Asp200Asn) | Hereditary cancer-predisposing syndrome [RCV002352120]|Tumor predisposition syndrome 3 [RCV000687063]|not provided [RCV002466563] | uncertain significance | 7 | 124859061 | 124859061 | Human | 3 | alternate_id |
| 13809096 | CV566374 | single nucleotide variant | NM_015450.3(POT1):c.560C>G (p.Thr187Ser) | Tumor predisposition syndrome 3 [RCV000687590] | uncertain significance | 7 | 124859099 | 124859099 | Human | 2 | alternate_id |
| 13820925 | CV566379 | single nucleotide variant | NM_015450.3(POT1):c.546G>A (p.Lys182=) | Hereditary cancer-predisposing syndrome [RCV002343487]|Tumor predisposition syndrome 3 [RCV000695192] | uncertain significance | 7 | 124863350 | 124863350 | Human | 3 | alternate_id |
| 14721063 | CV635575 | single nucleotide variant | NM_015450.3(POT1):c.1851T>A (p.Asp617Glu) | Hereditary cancer-predisposing syndrome [RCV002406748]|Tumor predisposition syndrome 3 [RCV000796932] | likely benign|uncertain significance | 7 | 124824016 | 124824016 | Human | 3 | alternate_id |
| 14726631 | CV635577 | single nucleotide variant | NM_015450.3(POT1):c.1729G>T (p.Asp577Tyr) | Hereditary cancer-predisposing syndrome [RCV001012875]|Tumor predisposition syndrome 3 [RCV000815710] | uncertain significance | 7 | 124825315 | 124825315 | Human | 3 | alternate_id |
| 14713049 | CV635578 | duplication | NM_015450.3(POT1):c.1648_1683dup (p.Asp550_Asp561dup) | Hereditary cancer-predisposing syndrome [RCV002397575]|Tumor predisposition syndrome 3 [RCV000793993] | uncertain significance | 7 | 124827216 | 124827217 | Human | 3 | alternate_id |
| 14725626 | CV635579 | single nucleotide variant | NM_015450.3(POT1):c.1658G>A (p.Gly553Glu) | Hereditary cancer-predisposing syndrome [RCV002397691]|Tumor predisposition syndrome 3 [RCV000815292] | uncertain significance | 7 | 124827242 | 124827242 | Human | 3 | alternate_id |
| 14719719 | CV635580 | single nucleotide variant | NM_015450.3(POT1):c.1585G>A (p.Val529Met) | Hereditary cancer-predisposing syndrome [RCV003166137]|Tumor predisposition syndrome 3 [RCV000796329] | uncertain significance | 7 | 124829263 | 124829263 | Human | 3 | alternate_id |
| 14718382 | CV635581 | single nucleotide variant | NM_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 significance | 7 | 124829283 | 124829283 | Human | 3 | alternate_id |
| 14702712 | CV635582 | single nucleotide variant | NM_015450.3(POT1):c.1555G>T (p.Val519Phe) | Hereditary cancer-predisposing syndrome [RCV002397649]|Tumor predisposition syndrome 3 [RCV000807081]|not provided [RCV001766684] | uncertain significance | 7 | 124829293 | 124829293 | Human | 3 | alternate_id |
| 14723139 | CV635584 | single nucleotide variant | NM_015450.3(POT1):c.1523G>T (p.Ser508Ile) | Hereditary cancer-predisposing syndrome [RCV003166163]|Tumor predisposition syndrome 3 [RCV000797841] | uncertain significance | 7 | 124829325 | 124829325 | Human | 3 | alternate_id |
| 14704438 | CV635585 | duplication | NM_015450.3(POT1):c.1516dup (p.Cys506fs) | Hereditary cancer-predisposing syndrome [RCV004944159]|Tumor predisposition syndrome 3 [RCV000797383] | pathogenic|uncertain significance | 7 | 124829331 | 124829332 | Human | 3 | alternate_id |
| 14722187 | CV635586 | single nucleotide variant | NM_015450.3(POT1):c.1416T>A (p.Ser472Arg) | Tumor predisposition syndrome 3 [RCV000813797] | uncertain significance | 7 | 124835368 | 124835368 | Human | 2 | alternate_id |
| 14718003 | CV635587 | single nucleotide variant | NM_015450.3(POT1):c.1411A>C (p.Asn471His) | Hereditary cancer-predisposing syndrome [RCV003166129]|Tumor predisposition syndrome 3 [RCV000795656]|not specified [RCV002268285] | likely benign|uncertain significance | 7 | 124835373 | 124835373 | Human | 3 | alternate_id |
| 14719167 | CV635588 | single nucleotide variant | NM_015450.3(POT1):c.1346A>G (p.Asn449Ser) | Tumor predisposition syndrome 3 [RCV000796056] | uncertain significance | 7 | 124840996 | 124840996 | Human | 2 | alternate_id |
| 14717351 | CV635589 | single nucleotide variant | NM_015450.3(POT1):c.1322A>C (p.Asn441Thr) | Hereditary cancer-predisposing syndrome [RCV002381807]|Tumor predisposition syndrome 3 [RCV000811861]|not provided [RCV001772098] | uncertain significance | 7 | 124841020 | 124841020 | Human | 3 | alternate_id |
| 14702953 | CV635590 | single nucleotide variant | NM_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 significance | 7 | 124841027 | 124841027 | Human | 3 | alternate_id |
| 14702042 | CV635591 | single nucleotide variant | NM_015450.3(POT1):c.1295G>A (p.Arg432Gln) | Hereditary cancer-predisposing syndrome [RCV001010811]|Tumor predisposition syndrome 3 [RCV000806706] | uncertain significance | 7 | 124841047 | 124841047 | Human | 3 | alternate_id |
| 14732680 | CV635592 | single nucleotide variant | NM_015450.3(POT1):c.1168G>A (p.Glu390Lys) | Hereditary cancer-predisposing syndrome [RCV001010116]|Tumor predisposition syndrome 3 [RCV000818390]|not provided [RCV004997382] | likely benign|uncertain significance | 7 | 124841174 | 124841174 | Human | 3 | alternate_id |
| 14730417 | CV635593 | single nucleotide variant | NM_015450.3(POT1):c.1161G>T (p.Leu387Phe) | Hereditary cancer-predisposing syndrome [RCV002352438]|Tumor predisposition syndrome 3 [RCV000817394] | likely benign|uncertain significance | 7 | 124842809 | 124842809 | Human | 3 | alternate_id |
| 14704807 | CV635594 | single nucleotide variant | NM_015450.3(POT1):c.1147C>T (p.Pro383Ser) | Tumor predisposition syndrome 3 [RCV000807879] | uncertain significance | 7 | 124842823 | 124842823 | Human | 2 | alternate_id |
| 14716082 | CV635595 | single nucleotide variant | NM_015450.3(POT1):c.1084A>G (p.Ile362Val) | Hereditary cancer-predisposing syndrome [RCV001017235]|Tumor predisposition syndrome 3 [RCV000795011]|not provided [RCV003313147] | uncertain significance | 7 | 124842886 | 124842886 | Human | 3 | alternate_id |
| 14720073 | CV635596 | microsatellite | NM_015450.3(POT1):c.1072CAA[1] (p.Gln359del) | Hereditary cancer-predisposing syndrome [RCV002422801]|Tumor predisposition syndrome 3 [RCV000812880] | uncertain significance | 7 | 124842893 | 124842895 | Human | | alternate_id |
| 14727527 | CV635597 | single nucleotide variant | NM_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 significance | 7 | 124846957 | 124846957 | Human | 3 | alternate_id |
| 14717696 | CV635598 | single nucleotide variant | NM_015450.3(POT1):c.949A>G (p.Ser317Gly) | Hereditary cancer-predisposing syndrome [RCV001019407]|Tumor predisposition syndrome 3 [RCV000811969] | uncertain significance | 7 | 124851872 | 124851872 | Human | 3 | alternate_id |
| 14724682 | CV635601 | single nucleotide variant | NM_015450.3(POT1):c.925T>C (p.Ser309Pro) | Hereditary cancer-predisposing syndrome [RCV002442646]|Tumor predisposition syndrome 3 [RCV000798492] | uncertain significance | 7 | 124851896 | 124851896 | Human | 3 | alternate_id |
| 14721539 | CV635602 | single nucleotide variant | NM_015450.3(POT1):c.895G>A (p.Ala299Thr) | Hereditary cancer-predisposing syndrome [RCV002442723]|Tumor predisposition syndrome 3 [RCV000813524]|not provided [RCV004997371] | likely benign|uncertain significance | 7 | 124851926 | 124851926 | Human | 3 | alternate_id |
| 14706985 | CV635603 | single nucleotide variant | NM_015450.3(POT1):c.886A>G (p.Asn296Asp) | Hereditary cancer-predisposing syndrome [RCV002442705]|Tumor predisposition syndrome 3 [RCV000808611] | likely benign|uncertain significance | 7 | 124851935 | 124851935 | Human | 3 | alternate_id |
| 14722592 | CV635605 | single nucleotide variant | NM_015450.3(POT1):c.823A>G (p.Ile275Val) | Hereditary cancer-predisposing syndrome [RCV002406844]|Tumor predisposition syndrome 3 [RCV000813990]|not provided [RCV003117605] | uncertain significance | 7 | 124853018 | 124853018 | Human | 3 | alternate_id |
| 14729633 | CV635606 | single nucleotide variant | NM_015450.3(POT1):c.814G>A (p.Gly272Ser) | Hereditary cancer-predisposing syndrome [RCV001027221]|Tumor predisposition syndrome 3 [RCV000817038]|not provided [RCV002225741] | uncertain significance | 7 | 124853027 | 124853027 | Human | 3 | alternate_id |
| 14725876 | CV635607 | single nucleotide variant | NM_015450.3(POT1):c.797A>T (p.His266Leu) | Hereditary cancer-predisposing syndrome [RCV004944165]|Tumor predisposition syndrome 3 [RCV000798998] | uncertain significance | 7 | 124853044 | 124853044 | Human | 3 | alternate_id |
| 14723410 | CV635608 | single nucleotide variant | NM_015450.3(POT1):c.773T>C (p.Met258Thr) | Hereditary cancer-predisposing syndrome [RCV003380720]|Tumor predisposition syndrome 3 [RCV000797939]|not provided [RCV001772055] | uncertain significance | 7 | 124853068 | 124853068 | Human | 3 | alternate_id |
| 14728860 | CV635609 | single nucleotide variant | NM_015450.3(POT1):c.755A>C (p.Asn252Thr) | Tumor predisposition syndrome 3 [RCV000816721] | uncertain significance | 7 | 124853086 | 124853086 | Human | 2 | alternate_id |
| 14733233 | CV635611 | single nucleotide variant | NM_015450.3(POT1):c.642A>G (p.Gln214=) | Hereditary cancer-predisposing syndrome [RCV002360954]|Tumor predisposition syndrome 3 [RCV000802207] | likely benign|uncertain significance | 7 | 124859017 | 124859017 | Human | 3 | alternate_id |
| 14708231 | CV635612 | single nucleotide variant | NM_015450.3(POT1):c.635G>A (p.Arg212Gln) | Hereditary cancer-predisposing syndrome [RCV002363088]|Tumor predisposition syndrome 3 [RCV000809023]|not specified [RCV005231364] | uncertain significance | 7 | 124859024 | 124859024 | Human | 3 | alternate_id |
| 14728406 | CV635613 | single nucleotide variant | NM_015450.3(POT1):c.557G>A (p.Gly186Asp) | Hereditary cancer-predisposing syndrome [RCV001024296]|Tumor predisposition syndrome 3 [RCV000800026] | uncertain significance | 7 | 124859102 | 124859102 | Human | 3 | alternate_id |
| 14703032 | CV635615 | single nucleotide variant | NM_015450.3(POT1):c.533C>T (p.Ser178Leu) | Hereditary cancer-predisposing syndrome [RCV002345819]|Tumor predisposition syndrome 3 [RCV000807185]|not provided [RCV001766686] | uncertain significance | 7 | 124863363 | 124863363 | Human | 3 | alternate_id |
| 14732757 | CV635616 | single nucleotide variant | NM_015450.3(POT1):c.485T>A (p.Phe162Tyr) | Hereditary cancer-predisposing syndrome [RCV001023162]|Tumor predisposition syndrome 3 [RCV000818425] | uncertain significance | 7 | 124863411 | 124863411 | Human | 3 | alternate_id |
| 14728491 | CV635617 | single nucleotide variant | NM_015450.3(POT1):c.464A>G (p.Asp155Gly) | Tumor predisposition syndrome 3 [RCV000800079] | uncertain significance | 7 | 124863432 | 124863432 | Human | 2 | alternate_id |
| 14717599 | CV635618 | single nucleotide variant | NM_015450.3(POT1):c.449T>C (p.Leu150Ser) | Hereditary cancer-predisposing syndrome [RCV001022585]|Tumor predisposition syndrome 3 [RCV000795520]|not provided [RCV002509540] | uncertain significance | 7 | 124863447 | 124863447 | Human | 3 | alternate_id |
| 14712678 | CV635620 | single nucleotide variant | NM_015450.3(POT1):c.350G>A (p.Arg117His) | Hereditary cancer-predisposing syndrome [RCV002453829]|Tumor predisposition syndrome 3 [RCV000810372] | uncertain significance | 7 | 124863546 | 124863546 | Human | 3 | alternate_id |
| 14707588 | CV635621 | single nucleotide variant | NM_015450.3(POT1):c.188G>C (p.Ser63Thr) | Hereditary cancer-predisposing syndrome [RCV003166277]|Tumor predisposition syndrome 3 [RCV000808836]|not provided [RCV004761804] | uncertain significance | 7 | 124870978 | 124870978 | Human | 3 | alternate_id |
| 14710772 | CV635622 | single nucleotide variant | NM_015450.3(POT1):c.186T>C (p.Phe62=) | Hereditary cancer-predisposing syndrome [RCV002406729]|Tumor predisposition syndrome 3 [RCV000793226] | likely benign|uncertain significance | 7 | 124870980 | 124870980 | Human | 3 | alternate_id |
| 14733816 | CV635623 | single nucleotide variant | NM_015450.3(POT1):c.170T>C (p.Leu57Pro) | Tumor predisposition syndrome 3 [RCV000802444] | uncertain significance | 7 | 124870996 | 124870996 | Human | 2 | alternate_id |
| 14719231 | CV635625 | single nucleotide variant | NM_015450.3(POT1):c.19A>G (p.Thr7Ala) | Hereditary cancer-predisposing syndrome [RCV001013996]|Tumor predisposition syndrome 3 [RCV000812515] | uncertain significance | 7 | 124892371 | 124892371 | Human | 3 | alternate_id |
| 14701957 | CV651638 | deletion | NC_000007.14:g.(?_124823952)_(124897183_?)del | Tumor predisposition syndrome 3 [RCV000820595] | pathogenic|uncertain significance | 7 | 124823952 | 124897183 | Human | 2 | alternate_id |
| 25325802 | CV815366 | deletion | NM_015450.3(POT1):c.1686+4_1686+7del | Hereditary cancer-predisposing syndrome [RCV001012733]|Tumor predisposition syndrome 3 [RCV001325112] | uncertain significance | 7 | 124827207 | 124827210 | Human | 3 | name |
| 26891802 | CV851622 | deletion | NM_015450.3(POT1):c.1369+1_1369+5del | Hereditary cancer-predisposing syndrome [RCV002379528]|Tumor predisposition syndrome 3 [RCV001046625] | likely pathogenic|uncertain significance | 7 | 124840968 | 124840972 | Human | 3 | name |
| 38490761 | CV940869 | deletion | NM_015450.3(POT1):c.1163+3_1163+6del | Hereditary cancer-predisposing syndrome [RCV002322078]|Tumor predisposition syndrome 3 [RCV001222375]|not specified [RCV004596426] | uncertain significance | 7 | 124842801 | 124842804 | Human | 3 | name |
| 126730050 | CV991987 | single nucleotide variant | NM_015450.3(POT1):c.1877A>G (p.Asp626Gly) | Hereditary cancer-predisposing syndrome [RCV004036286]|Tumor predisposition syndrome 3 [RCV001303671] | uncertain significance | 7 | 124823990 | 124823990 | Human | 3 | alternate_id |
| 126752965 | CV991988 | single nucleotide variant | NM_015450.3(POT1):c.1755G>T (p.Met585Ile) | Tumor predisposition syndrome 3 [RCV001297818] | uncertain significance | 7 | 124825289 | 124825289 | Human | 2 | alternate_id |
| 126734832 | CV991989 | single nucleotide variant | NM_015450.3(POT1):c.1753A>G (p.Met585Val) | Hereditary cancer-predisposing syndrome [RCV002402819]|Tumor predisposition syndrome 3 [RCV001294985] | uncertain significance | 7 | 124825291 | 124825291 | Human | 3 | alternate_id |
| 126726878 | CV991990 | single nucleotide variant | NM_015450.3(POT1):c.1714G>C (p.Glu572Gln) | Tumor predisposition syndrome 3 [RCV001303021] | uncertain significance | 7 | 124825330 | 124825330 | Human | 2 | alternate_id |
| 126736983 | CV991991 | single nucleotide variant | NM_015450.3(POT1):c.1678A>T (p.Met560Leu) | Hereditary cancer-predisposing syndrome [RCV003166725]|Tumor predisposition syndrome 3 [RCV001304816] | uncertain significance | 7 | 124827222 | 124827222 | Human | 3 | alternate_id |
| 126725818 | CV991993 | single nucleotide variant | NM_015450.3(POT1):c.1459G>A (p.Asp487Asn) | Hereditary cancer-predisposing syndrome [RCV003166706]|Tumor predisposition syndrome 3 [RCV001302693] | likely benign|uncertain significance | 7 | 124835325 | 124835325 | Human | 3 | alternate_id |
| 126754664 | CV991994 | single nucleotide variant | NM_015450.3(POT1):c.1396C>T (p.Leu466Phe) | Tumor predisposition syndrome 3 [RCV001307682] | uncertain significance | 7 | 124835388 | 124835388 | Human | 2 | alternate_id |
| 126725256 | CV991995 | single nucleotide variant | NM_015450.3(POT1):c.1334T>C (p.Leu445Pro) | Tumor predisposition syndrome 3 [RCV001302510] | uncertain significance | 7 | 124841008 | 124841008 | Human | 2 | alternate_id |
| 126725219 | CV991996 | single nucleotide variant | NM_015450.3(POT1):c.1266A>G (p.Lys422=) | Tumor predisposition syndrome 3 [RCV001302494] | likely benign|uncertain significance | 7 | 124841076 | 124841076 | Human | 2 | alternate_id |
| 126759041 | CV991997 | duplication | NM_015450.3(POT1):c.1213_1233dup (p.Ala405_Val411dup) | Tumor predisposition syndrome 3 [RCV001308903] | uncertain significance | 7 | 124841108 | 124841109 | Human | 2 | alternate_id |
| 126754342 | CV991998 | single nucleotide variant | NM_015450.3(POT1):c.1205A>G (p.Gln402Arg) | Hereditary cancer-predisposing syndrome [RCV002350532]|Tumor predisposition syndrome 3 [RCV001298106]|not provided [RCV001760343] | likely benign|uncertain significance | 7 | 124841137 | 124841137 | Human | 3 | alternate_id |
| 126761213 | CV991999 | single nucleotide variant | NM_015450.3(POT1):c.1117A>G (p.Arg373Gly) | Hereditary cancer-predisposing syndrome [RCV002437058]|Tumor predisposition syndrome 3 [RCV001309533] | uncertain significance | 7 | 124842853 | 124842853 | Human | 3 | alternate_id |
| 126761992 | CV992000 | single nucleotide variant | NM_015450.3(POT1):c.1009C>T (p.Leu337Phe) | Hereditary cancer-predisposing syndrome [RCV002451667]|Tumor predisposition syndrome 3 [RCV001300256]|not provided [RCV002285473] | uncertain significance | 7 | 124842961 | 124842961 | Human | 3 | alternate_id |
| 126747080 | CV992001 | single nucleotide variant | NM_015450.3(POT1):c.901C>A (p.Gln301Lys) | Tumor predisposition syndrome 3 [RCV001306192]|not provided [RCV003153982] | uncertain significance | 7 | 124851920 | 124851920 | Human | 2 | alternate_id |
| 126759316 | CV992002 | single nucleotide variant | NM_015450.3(POT1):c.815G>T (p.Gly272Val) | Hereditary cancer-predisposing syndrome [RCV005262361]|Tumor predisposition syndrome 3 [RCV001299450] | uncertain significance | 7 | 124853026 | 124853026 | Human | 3 | alternate_id |
| 126757485 | CV992003 | single nucleotide variant | NM_015450.3(POT1):c.712T>C (p.Phe238Leu) | Tumor predisposition syndrome 3 [RCV001298898] | uncertain significance | 7 | 124853129 | 124853129 | Human | 2 | alternate_id |
| 126756384 | CV992004 | single nucleotide variant | NM_015450.3(POT1):c.688G>T (p.Ala230Ser) | Tumor predisposition syndrome 3 [RCV001298568] | uncertain significance | 7 | 124858971 | 124858971 | Human | 2 | alternate_id |
| 126728818 | CV992005 | single nucleotide variant | NM_015450.3(POT1):c.629T>A (p.Ile210Asn) | Tumor predisposition syndrome 3 [RCV001303466] | uncertain significance | 7 | 124859030 | 124859030 | Human | 2 | alternate_id |
| 126758514 | CV992007 | single nucleotide variant | NM_015450.3(POT1):c.466G>A (p.Val156Ile) | Hereditary cancer-predisposing syndrome [RCV002327686]|Tumor predisposition syndrome 3 [RCV001308743] | uncertain significance | 7 | 124863430 | 124863430 | Human | 3 | alternate_id |
| 126735120 | CV992008 | single nucleotide variant | NM_015450.3(POT1):c.431T>C (p.Met144Thr) | Tumor predisposition syndrome 3 [RCV001304553] | uncertain significance | 7 | 124863465 | 124863465 | Human | 2 | alternate_id |
| 126763079 | CV992009 | insertion | NM_015450.3(POT1):c.285_286insCT (p.Ile96fs) | Tumor predisposition syndrome 3 [RCV001300565] | pathogenic|uncertain significance | 7 | 124863610 | 124863611 | Human | 2 | alternate_id |
| 126732432 | CV992010 | single nucleotide variant | NM_015450.3(POT1):c.265T>A (p.Tyr89Asn) | Tumor predisposition syndrome 3 [RCV001294560] | uncertain significance | 7 | 124863631 | 124863631 | Human | 2 | alternate_id |
| 126737107 | CV992012 | single nucleotide variant | NM_015450.3(POT1):c.182T>C (p.Leu61Pro) | Hereditary cancer-predisposing syndrome [RCV004035640]|Tumor predisposition syndrome 3 [RCV001295308] | uncertain significance | 7 | 124870984 | 124870984 | Human | 3 | alternate_id |
| 405250026 | CV3011740 | duplication | NM_015450.3(POT1):c.1793-10_1793-6dup | Tumor predisposition syndrome 3 [RCV003747375] | likely benign | 7 | 124824079 | 124824080 | Human | 2 | name |
| 150426033 | CV1183923 | deletion | NM_015450.3(POT1):c.1506-80_1506-79del | not provided [RCV001558820] | likely benign | 7 | 124829421 | 124829422 | Human | | name |
| 150536746 | CV1302885 | microsatellite | NM_015450.3(POT1):c.1506-16_1506-13del | Tumor predisposition syndrome 3 [RCV002077196]|not provided [RCV001763630] | likely benign|uncertain significance | 7 | 124829355 | 124829358 | Human | | name |
| 152036395 | CV1521652 | deletion | NM_015450.3(POT1):c.1007-35_1007-18del | Tumor predisposition syndrome 3 [RCV002187572] | likely benign | 7 | 124842981 | 124842998 | Human | 2 | name |
| 152147188 | CV1656074 | inversion | NM_015450.3(POT1):c.1006+15_1006+16inv | Tumor predisposition syndrome 3 [RCV002220230] | likely benign | 7 | 124846926 | 124846927 | Human | | name |
| 156050303 | CV2091401 | deletion | NM_015450.3(POT1):c.1793-16_1793-13del | Tumor predisposition syndrome 3 [RCV002886139] | likely benign | 7 | 124824087 | 124824090 | Human | 2 | name |
| 156379385 | CV2117848 | microsatellite | NM_015450.3(POT1):c.1370-14_1370-11del | Tumor predisposition syndrome 3 [RCV002943021] | likely benign | 7 | 124835425 | 124835428 | Human | | name |
| 405140790 | CV2883217 | insertion | NM_015450.3(POT1):c.1686+6_1686+7insTT | Tumor predisposition syndrome 3 [RCV003584093] | likely benign | 7 | 124827207 | 124827208 | Human | 2 | name |
| 405142886 | CV2908772 | duplication | NM_015450.3(POT1):c.1595-14_1595-11dup | Tumor predisposition syndrome 3 [RCV003584230] | likely benign | 7 | 124827315 | 124827316 | Human | 2 | name |
| 405116527 | CV3134193 | deletion | NM_015450.3(POT1):c.1506-20_1506-19del | Tumor predisposition syndrome 3 [RCV003836795] | likely benign | 7 | 124829361 | 124829362 | Human | 2 | name |
| 597911337 | CV3850475 | deletion | NM_015450.3(POT1):c.1369+20_1369+21del | Tumor predisposition syndrome 3 [RCV005203623] | likely benign | 7 | 124840952 | 124840953 | Human | 2 | name |
| 15114419 | CV787493 | microsatellite | NM_015450.3(POT1):c.1505+7_1505+8insTTTTC | Tumor predisposition syndrome 3 [RCV001405619] | likely benign | 7 | 124835271 | 124835272 | Human | | name |
| 152107181 | CV1639144 | microsatellite | NM_015450.3(POT1):c.1505+12_1505+13insTTTTA | Tumor predisposition syndrome 3 [RCV002152563] | likely benign | 7 | 124835266 | 124835267 | Human | | name |
| 156304853 | CV2013667 | indel | NM_015450.3(POT1):c.1164-14_1164-13delinsAT | Tumor predisposition syndrome 3 [RCV002716229] | likely benign | 7 | 124841191 | 124841192 | Human | | name |
| 152066628 | CV1659953 | microsatellite | NM_015450.3(POT1):c.1163+19_1163+20insTTCCATAATAC | Tumor predisposition syndrome 3 [RCV002147512] | likely benign | 7 | 124842787 | 124842788 | Human | | name |