| 13519591 | CV487272 | single nucleotide variant | NM_016169.4(SUFU):c.*20= | not provided [RCV000586161] | benign | 10 | 102630175 | 102630175 | Human | | name |
| 150425723 | CV1184314 | single nucleotide variant | NM_016169.4(SUFU):c.*6G>A | SUFU-related disorder [RCV004551905]|not provided [RCV001558389] | likely benign | 10 | 102630161 | 102630161 | Human | | name , alternate_id |
| 329357986 | CV2422309 | single nucleotide variant | NM_016169.4(SUFU):c.-2C>G | Hereditary cancer-predisposing syndrome [RCV003165103] | uncertain significance | 10 | 102504151 | 102504151 | Human | 1 | name |
| 598124202 | CV3881365 | single nucleotide variant | NM_016169.4(SUFU):c.-2C>T | not specified [RCV005231790] | uncertain significance | 10 | 102504151 | 102504151 | Human | | name |
| 25318154 | CV809808 | single nucleotide variant | NM_016169.4(SUFU):c.-3C>T | Hereditary cancer-predisposing syndrome [RCV001021624] | uncertain significance | 10 | 102504150 | 102504150 | Human | 1 | name |
| 150335150 | CV1164346 | single nucleotide variant | NM_016169.4(SUFU):c.*20T>G | Gorlin syndrome [RCV001816013]|Joubert syndrome 32 [RCV001816014]|not provided [RCV004718881]|not specified [RCV001530123] | benign | 10 | 102630175 | 102630175 | Human | 2 | name |
| 11653113 | CV309280 | single nucleotide variant | NM_016169.4(SUFU):c.-81C>A | Medulloblastoma [RCV000308749] | uncertain significance | 10 | 102504072 | 102504072 | Human | 2 | name |
| 11651021 | CV313981 | single nucleotide variant | NM_016169.4(SUFU):c.*61G>A | Medulloblastoma [RCV000296259] | likely benign|uncertain significance | 10 | 102630216 | 102630216 | Human | 2 | name |
| 11658230 | CV320408 | single nucleotide variant | NM_016169.4(SUFU):c.-81C>T | Medulloblastoma [RCV000347301] | uncertain significance | 10 | 102504072 | 102504072 | Human | 2 | name |
| 11664256 | CV320411 | single nucleotide variant | NM_016169.4(SUFU):c.-33C>T | Medulloblastoma [RCV000404241]|not provided [RCV004705144]|not specified [RCV000603009] | benign|likely benign|uncertain significance | 10 | 102504120 | 102504120 | Human | 2 | name |
| 598124201 | CV3881364 | single nucleotide variant | NM_016169.4(SUFU):c.-48C>G | not specified [RCV005231789] | likely benign | 10 | 102504105 | 102504105 | Human | | name |
| 11664462 | CV309272 | single nucleotide variant | NM_016169.4(SUFU):c.-103C>A | Medulloblastoma [RCV000405553] | uncertain significance | 10 | 102504050 | 102504050 | Human | 2 | name |
| 11649492 | CV309282 | single nucleotide variant | NM_016169.4(SUFU):c.*205G>A | Medulloblastoma [RCV000287872]|not provided [RCV001552329] | likely benign | 10 | 102630360 | 102630360 | Human | 2 | name |
| 11664452 | CV309283 | single nucleotide variant | NM_016169.4(SUFU):c.*520G>A | Medulloblastoma [RCV000405953] | uncertain significance | 10 | 102630675 | 102630675 | Human | 2 | name |
| 11652309 | CV309285 | single nucleotide variant | NM_016169.4(SUFU):c.*907C>G | Medulloblastoma [RCV000304047] | uncertain significance | 10 | 102631062 | 102631062 | Human | 2 | name |
| 11650896 | CV313963 | single nucleotide variant | NM_016169.4(SUFU):c.-178C>T | Medulloblastoma [RCV000295511]|not provided [RCV001711896] | benign|likely benign | 10 | 102503975 | 102503975 | Human | 2 | name |
| 11658710 | CV313983 | single nucleotide variant | NM_016169.4(SUFU):c.*118C>T | Medulloblastoma [RCV000351120]|not provided [RCV004718187] | benign|likely benign | 10 | 102630273 | 102630273 | Human | 2 | name |
| 11663120 | CV319845 | single nucleotide variant | NM_016169.4(SUFU):c.-181A>G | Medulloblastoma [RCV000392780] | uncertain significance | 10 | 102503972 | 102503972 | Human | 2 | name |
| 11664681 | CV319856 | single nucleotide variant | NM_016169.4(SUFU):c.*376G>A | Medulloblastoma [RCV000407982] | uncertain significance | 10 | 102630531 | 102630531 | Human | 2 | name |
| 11657204 | CV319860 | single nucleotide variant | NM_016169.4(SUFU):c.*476A>G | Medulloblastoma [RCV000339341] | uncertain significance | 10 | 102630631 | 102630631 | Human | 2 | name |
| 11658890 | CV320407 | single nucleotide variant | NM_016169.4(SUFU):c.-163A>G | Medulloblastoma [RCV000352646] | uncertain significance | 10 | 102503990 | 102503990 | Human | 2 | name |
| 11662060 | CV320423 | single nucleotide variant | NM_016169.4(SUFU):c.*131C>G | Medulloblastoma [RCV000382352] | uncertain significance | 10 | 102630286 | 102630286 | Human | 2 | name |
| 11658272 | CV320424 | single nucleotide variant | NM_016169.4(SUFU):c.*352C>G | Medulloblastoma [RCV000347559] | uncertain significance | 10 | 102630507 | 102630507 | Human | 2 | name |
| 11652140 | CV320425 | single nucleotide variant | NM_016169.4(SUFU):c.*391A>G | Medulloblastoma [RCV000303005]|not provided [RCV004718188] | benign|likely benign | 10 | 102630546 | 102630546 | Human | 2 | name |
| 11659059 | CV320429 | single nucleotide variant | NM_016169.4(SUFU):c.*915G>C | Medulloblastoma [RCV000354247] | uncertain significance | 10 | 102631070 | 102631070 | Human | 2 | name |
| 14732487 | CV664497 | single nucleotide variant | NM_016169.3(SUFU):c.-235T>C | not provided [RCV000836610] | benign | 10 | 102503918 | 102503918 | Human | | name |
| 28904317 | CV865294 | single nucleotide variant | NM_016169.3(SUFU):c.-189C>T | Medulloblastoma [RCV001105520] | uncertain significance | 10 | 102503964 | 102503964 | Human | 2 | name |
| 28904548 | CV865296 | single nucleotide variant | NM_016169.4(SUFU):c.*138C>T | Medulloblastoma [RCV001105630] | uncertain significance | 10 | 102630293 | 102630293 | Human | 2 | name |
| 28904551 | CV865297 | single nucleotide variant | NM_016169.4(SUFU):c.*305C>A | Medulloblastoma [RCV001105631] | uncertain significance | 10 | 102630460 | 102630460 | Human | 2 | name |
| 28906628 | CV865298 | single nucleotide variant | NM_016169.4(SUFU):c.*405G>A | Medulloblastoma [RCV001106766] | uncertain significance | 10 | 102630560 | 102630560 | Human | 2 | name |
| 28906631 | CV865299 | single nucleotide variant | NM_016169.4(SUFU):c.*505T>G | Medulloblastoma [RCV001106767] | likely benign | 10 | 102630660 | 102630660 | Human | 2 | name |
| 28906634 | CV865300 | single nucleotide variant | NM_016169.4(SUFU):c.*721T>G | Medulloblastoma [RCV001106768] | uncertain significance | 10 | 102630876 | 102630876 | Human | 2 | name |
| 28907755 | CV865301 | single nucleotide variant | NM_016169.4(SUFU):c.*742G>A | Medulloblastoma [RCV001107402] | likely benign | 10 | 102630897 | 102630897 | Human | 2 | name |
| 28907758 | CV865302 | single nucleotide variant | NM_016169.4(SUFU):c.*844G>A | Medulloblastoma [RCV001107403] | uncertain significance | 10 | 102630999 | 102630999 | Human | 2 | name |
| 28904315 | CV868429 | single nucleotide variant | NM_016169.3(SUFU):c.-202C>T | Medulloblastoma [RCV001105519] | uncertain significance | 10 | 102503951 | 102503951 | Human | 2 | name |
| 126760197 | CV1008849 | single nucleotide variant | NM_016169.4(SUFU):c.182+6C>T | Gorlin syndrome [RCV001318273] | uncertain significance | 10 | 102504340 | 102504340 | Human | 2 | name |
| 127243692 | CV1055886 | single nucleotide variant | NM_016169.4(SUFU):c.683+1G>A | Gorlin syndrome [RCV001377148]|not provided [RCV004998863] | likely pathogenic | 10 | 102593722 | 102593722 | Human | 2 | name |
| 127251593 | CV1076875 | single nucleotide variant | NM_016169.4(SUFU):c.597+8A>C | Gorlin syndrome [RCV001417820] | likely benign | 10 | 102592732 | 102592732 | Human | 2 | name |
| 127240723 | CV1076880 | single nucleotide variant | NM_016169.4(SUFU):c.910+8C>G | Gorlin syndrome [RCV001397822]|SUFU-related disorder [RCV004550112] | likely benign | 10 | 102597301 | 102597301 | Human | 3 | name , alternate_id |
| 127251855 | CV1076881 | single nucleotide variant | NM_016169.4(SUFU):c.910+9C>T | Gorlin syndrome [RCV001417906] | likely benign | 10 | 102597302 | 102597302 | Human | 2 | name |
| 127241855 | CV1098520 | single nucleotide variant | NM_016169.4(SUFU):c.182+7T>A | Gorlin syndrome [RCV001434501] | likely benign | 10 | 102504341 | 102504341 | Human | 2 | name |
| 127262940 | CV1098521 | single nucleotide variant | NM_016169.4(SUFU):c.182+7T>C | Gorlin syndrome [RCV001439169] | likely benign | 10 | 102504341 | 102504341 | Human | 2 | name |
| 127257559 | CV1098523 | single nucleotide variant | NM_016169.4(SUFU):c.455-5C>T | Gorlin syndrome [RCV001427135] | likely benign | 10 | 102592577 | 102592577 | Human | 2 | name |
| 127248711 | CV1098524 | single nucleotide variant | NM_016169.4(SUFU):c.597+9C>T | Gorlin syndrome [RCV001435901] | likely benign | 10 | 102592733 | 102592733 | Human | 2 | name |
| 127263152 | CV1098525 | single nucleotide variant | NM_016169.4(SUFU):c.598-8G>T | Gorlin syndrome [RCV001439218] | likely benign | 10 | 102593628 | 102593628 | Human | 2 | name |
| 127264023 | CV1098527 | single nucleotide variant | NM_016169.4(SUFU):c.684-9T>C | Gorlin syndrome [RCV001439512] | likely benign | 10 | 102593984 | 102593984 | Human | 2 | name |
| 127334677 | CV1120109 | single nucleotide variant | NM_016169.4(SUFU):c.455-6C>T | Gorlin syndrome [RCV001473746] | likely benign | 10 | 102592576 | 102592576 | Human | 2 | name |
| 127333559 | CV1120111 | single nucleotide variant | NM_016169.4(SUFU):c.598-6C>T | Gorlin syndrome [RCV001473010] | likely benign | 10 | 102593630 | 102593630 | Human | 2 | name |
| 127302789 | CV1120112 | single nucleotide variant | NM_016169.4(SUFU):c.598-4T>G | Gorlin syndrome [RCV001454520]|Hereditary cancer-predisposing syndrome [RCV003346568] | likely benign | 10 | 102593632 | 102593632 | Human | 3 | name |
| 127297583 | CV1120116 | single nucleotide variant | NM_016169.4(SUFU):c.911-8C>T | Gorlin syndrome [RCV001477648]|not provided [RCV003311995] | likely benign|uncertain significance | 10 | 102599425 | 102599425 | Human | 2 | name |
| 127327364 | CV1140946 | single nucleotide variant | NM_016169.4(SUFU):c.317+9A>C | Gorlin syndrome [RCV001506566] | likely benign | 10 | 102509312 | 102509312 | Human | 2 | name |
| 127306924 | CV1140949 | single nucleotide variant | NM_016169.4(SUFU):c.598-4T>C | Gorlin syndrome [RCV001500348] | likely benign | 10 | 102593632 | 102593632 | Human | 2 | name |
| 151783974 | CV1344648 | single nucleotide variant | NM_016169.4(SUFU):c.317+1G>A | Gorlin syndrome [RCV001989389] | likely pathogenic | 10 | 102509304 | 102509304 | Human | 2 | name |
| 151748717 | CV1362617 | single nucleotide variant | NM_016169.4(SUFU):c.318-1G>C | Gorlin syndrome [RCV001968949] | likely pathogenic | 10 | 102549969 | 102549969 | Human | 2 | name |
| 151782546 | CV1422300 | single nucleotide variant | NM_016169.4(SUFU):c.182+3A>C | Gorlin syndrome [RCV001972212] | likely pathogenic|uncertain significance | 10 | 102504337 | 102504337 | Human | 2 | name |
| 151799193 | CV1430082 | single nucleotide variant | NM_016169.4(SUFU):c.183-2A>C | Gorlin syndrome [RCV001990795] | likely pathogenic | 10 | 102509167 | 102509167 | Human | 2 | name |
| 151873131 | CV1430139 | single nucleotide variant | NM_016169.4(SUFU):c.182+1G>A | Gorlin syndrome [RCV002035931] | likely pathogenic | 10 | 102504335 | 102504335 | Human | 2 | name |
| 151751543 | CV1508405 | single nucleotide variant | NM_016169.4(SUFU):c.910+5G>A | Gorlin syndrome [RCV001986330] | uncertain significance | 10 | 102597298 | 102597298 | Human | 2 | name |
| 152139212 | CV1559904 | single nucleotide variant | NM_016169.4(SUFU):c.598-8G>C | Gorlin syndrome [RCV002137953] | likely benign | 10 | 102593628 | 102593628 | Human | 2 | name |
| 152155777 | CV1561020 | single nucleotide variant | NM_016169.4(SUFU):c.182+9T>C | Gorlin syndrome [RCV002102908] | likely benign | 10 | 102504343 | 102504343 | Human | 2 | name |
| 152030212 | CV1622068 | single nucleotide variant | NM_016169.4(SUFU):c.911-4G>T | Gorlin syndrome [RCV002186409] | likely benign | 10 | 102599429 | 102599429 | Human | 2 | name |
| 152089752 | CV1634060 | single nucleotide variant | NM_016169.4(SUFU):c.757-7C>T | Gorlin syndrome [RCV002194144] | likely benign | 10 | 102597133 | 102597133 | Human | 2 | name |
| 152065184 | CV1652519 | single nucleotide variant | NM_016169.4(SUFU):c.757-6A>G | Gorlin syndrome [RCV002090803] | likely benign | 10 | 102597134 | 102597134 | Human | 2 | name |
| 155677868 | CV1815177 | single nucleotide variant | NM_016169.4(SUFU):c.683+5G>A | Hereditary cancer-predisposing syndrome [RCV002369650] | likely pathogenic | 10 | 102593726 | 102593726 | Human | 1 | name |
| 155711202 | CV1817811 | single nucleotide variant | NM_016169.4(SUFU):c.911-8C>A | Hereditary cancer-predisposing syndrome [RCV002378690] | likely pathogenic | 10 | 102599425 | 102599425 | Human | 1 | name |
| 156360705 | CV2016625 | single nucleotide variant | NM_016169.4(SUFU):c.910+7G>A | Gorlin syndrome [RCV002720839] | likely benign | 10 | 102597300 | 102597300 | Human | 2 | name |
| 156024408 | CV2020004 | single nucleotide variant | NM_016169.4(SUFU):c.683+7A>T | Gorlin syndrome [RCV002691155] | uncertain significance | 10 | 102593728 | 102593728 | Human | 2 | name |
| 156237310 | CV2036702 | single nucleotide variant | NM_016169.4(SUFU):c.455-9C>T | Gorlin syndrome [RCV002805545] | likely benign | 10 | 102592573 | 102592573 | Human | 2 | name |
| 156042820 | CV2089733 | single nucleotide variant | NM_016169.4(SUFU):c.318-9G>A | Gorlin syndrome [RCV002867509] | likely benign | 10 | 102549961 | 102549961 | Human | 2 | name |
| 156087121 | CV2155384 | single nucleotide variant | NM_016169.4(SUFU):c.318-3C>T | Gorlin syndrome [RCV003020546] | uncertain significance | 10 | 102549967 | 102549967 | Human | 2 | name |
| 11348380 | CV240725 | single nucleotide variant | NM_016169.4(SUFU):c.183-4G>A | Gorlin syndrome [RCV000226395]|Gorlin syndrome [RCV001294223]|Hereditary cancer-predisposing syndrome [RCV001013328]|SUFU-related disorder [RCV004547610]|not provided [RCV003477833] | benign|likely benign|uncertain significance | 10 | 102509165 | 102509165 | Human | 4 | name , alternate_id |
| 329386143 | CV2433599 | single nucleotide variant | NM_016169.4(SUFU):c.911-3C>T | Hereditary cancer-predisposing syndrome [RCV003177391] | uncertain significance | 10 | 102599430 | 102599430 | Human | 1 | name |
| 401899403 | CV2790336 | duplication | NM_016169.4(SUFU):c.183-5dup | Hereditary cancer-predisposing syndrome [RCV003377590] | likely benign | 10 | 102509158 | 102509159 | Human | 1 | name |
| 404995822 | CV3085410 | single nucleotide variant | NM_016169.4(SUFU):c.911-4G>A | Gorlin syndrome [RCV003782941]|Hereditary cancer-predisposing syndrome [RCV005281482] | likely benign | 10 | 102599429 | 102599429 | Human | 3 | name |
| 402521335 | CV3086340 | single nucleotide variant | NM_016169.4(SUFU):c.183-1G>T | Gorlin syndrome [RCV003781113] | likely pathogenic | 10 | 102509168 | 102509168 | Human | 2 | name |
| 405003513 | CV3086377 | single nucleotide variant | NM_016169.4(SUFU):c.910+7G>C | Gorlin syndrome [RCV003783590] | likely benign | 10 | 102597300 | 102597300 | Human | 2 | name |
| 404984218 | CV3087225 | single nucleotide variant | NM_016169.4(SUFU):c.317+7A>G | Gorlin syndrome [RCV003781688] | likely benign | 10 | 102509310 | 102509310 | Human | 2 | name |
| 402491614 | CV3091092 | single nucleotide variant | NM_016169.4(SUFU):c.454+7G>T | Gorlin syndrome [RCV003787597] | likely benign | 10 | 102550113 | 102550113 | Human | 2 | name |
| 11651754 | CV309286 | single nucleotide variant | NM_016169.4(SUFU):c.*1122C>T | Medulloblastoma [RCV000300391]|not provided [RCV004718189] | benign|likely benign | 10 | 102631277 | 102631277 | Human | 5 | name |
| 11647147 | CV309291 | single nucleotide variant | NM_016169.4(SUFU):c.*1389C>T | Medulloblastoma [RCV000274767] | uncertain significance | 10 | 102631544 | 102631544 | Human | 2 | name |
| 11650083 | CV309296 | single nucleotide variant | NM_016169.4(SUFU):c.*1889C>T | Medulloblastoma [RCV000290778] | uncertain significance | 10 | 102632044 | 102632044 | Human | 2 | name |
| 11663008 | CV309298 | single nucleotide variant | NM_016169.4(SUFU):c.*2172G>A | Medulloblastoma [RCV000391179] | likely benign|uncertain significance | 10 | 102632327 | 102632327 | Human | 2 | name |
| 11647953 | CV309299 | single nucleotide variant | NM_016169.4(SUFU):c.*2195G>T | Medulloblastoma [RCV000279166] | uncertain significance | 10 | 102632350 | 102632350 | Human | 2 | name |
| 11657098 | CV309306 | single nucleotide variant | NM_016169.4(SUFU):c.*2267G>T | Medulloblastoma [RCV000338784] | uncertain significance | 10 | 102632422 | 102632422 | Human | 2 | name |
| 11664253 | CV309308 | single nucleotide variant | NM_016169.4(SUFU):c.*2475C>T | Medulloblastoma [RCV000403875] | uncertain significance | 10 | 102632630 | 102632630 | Human | 2 | name |
| 11660501 | CV309311 | single nucleotide variant | NM_016169.4(SUFU):c.*2585T>C | Medulloblastoma [RCV000367633]|not provided [RCV004718193] | benign|likely benign | 10 | 102632740 | 102632740 | Human | 5 | name |
| 11664176 | CV309312 | single nucleotide variant | NM_016169.4(SUFU):c.*2643C>G | Medulloblastoma [RCV000403067] | uncertain significance | 10 | 102632798 | 102632798 | Human | 2 | name |
| 11654774 | CV309328 | single nucleotide variant | NM_016169.4(SUFU):c.*3239C>G | Medulloblastoma [RCV000320507] | uncertain significance | 10 | 102633394 | 102633394 | Human | 2 | name |
| 11661769 | CV309329 | single nucleotide variant | NM_016169.4(SUFU):c.*3290C>G | Medulloblastoma [RCV000379684] | likely benign|uncertain significance | 10 | 102633445 | 102633445 | Human | 2 | name |
| 405006926 | CV3096131 | single nucleotide variant | NM_016169.4(SUFU):c.683+8C>G | Gorlin syndrome [RCV003794281] | likely benign | 10 | 102593729 | 102593729 | Human | 2 | name |
| 404986794 | CV3096905 | single nucleotide variant | NM_016169.4(SUFU):c.684-5C>T | Gorlin syndrome [RCV003792294] | likely benign | 10 | 102593988 | 102593988 | Human | 2 | name |
| 405071033 | CV3099840 | single nucleotide variant | NM_016169.4(SUFU):c.597+9C>A | Gorlin syndrome [RCV003799555] | likely benign | 10 | 102592733 | 102592733 | Human | 2 | name |
| 405175668 | CV3101085 | single nucleotide variant | NM_016169.4(SUFU):c.911-1G>T | Gorlin syndrome [RCV003803472] | likely pathogenic | 10 | 102599432 | 102599432 | Human | 2 | name |
| 405167490 | CV3107227 | single nucleotide variant | NM_016169.4(SUFU):c.317+9A>G | Gorlin syndrome [RCV003802718] | likely benign | 10 | 102509312 | 102509312 | Human | 2 | name |
| 405053734 | CV3107720 | single nucleotide variant | NM_016169.4(SUFU):c.911-2A>C | Gorlin syndrome [RCV003808465]|Hereditary cancer-predisposing syndrome [RCV004950695] | likely pathogenic|uncertain significance | 10 | 102599431 | 102599431 | Human | 3 | name |
| 405043121 | CV3113030 | single nucleotide variant | NM_016169.4(SUFU):c.684-6C>T | Gorlin syndrome [RCV003807697] | likely benign | 10 | 102593987 | 102593987 | Human | 2 | name |
| 405082421 | CV3113513 | duplication | NM_016169.4(SUFU):c.597+6dup | Gorlin syndrome [RCV003810530] | likely benign | 10 | 102592728 | 102592729 | Human | 2 | name |
| 11644326 | CV313988 | single nucleotide variant | NM_016169.4(SUFU):c.*1104C>T | Medulloblastoma [RCV000259257] | uncertain significance | 10 | 102631259 | 102631259 | Human | 2 | name |
| 11646463 | CV313996 | single nucleotide variant | NM_016169.4(SUFU):c.*1672A>G | Medulloblastoma [RCV000270789]|not provided [RCV004705145] | likely benign | 10 | 102631827 | 102631827 | Human | 2 | name |
| 11660030 | CV314004 | single nucleotide variant | NM_016169.4(SUFU):c.*2720C>T | Medulloblastoma [RCV000363407] | likely benign|uncertain significance | 10 | 102632875 | 102632875 | Human | 2 | name |
| 11660148 | CV314005 | single nucleotide variant | NM_016169.4(SUFU):c.*3086A>G | Medulloblastoma [RCV000364442] | likely benign | 10 | 102633241 | 102633241 | Human | 2 | name |
| 405275458 | CV3196343 | single nucleotide variant | NM_016169.4(SUFU):c.317+3G>A | SUFU-related disorder [RCV004554507] | likely benign | 10 | 102509306 | 102509306 | Human | | name , trait , alternate_id |
| 11659179 | CV319861 | single nucleotide variant | NM_016169.4(SUFU):c.*1373C>T | Medulloblastoma [RCV000355483]|not provided [RCV004718190] | benign|likely benign | 10 | 102631528 | 102631528 | Human | 2 | name |
| 11655458 | CV319862 | single nucleotide variant | NM_016169.4(SUFU):c.*1675G>A | Medulloblastoma [RCV000325768] | likely benign | 10 | 102631830 | 102631830 | Human | 2 | name |
| 11662348 | CV319864 | single nucleotide variant | NM_016169.4(SUFU):c.*1715A>G | Medulloblastoma [RCV000385108]|not provided [RCV004718192] | benign|likely benign | 10 | 102631870 | 102631870 | Human | 2 | name |
| 11657425 | CV319865 | single nucleotide variant | NM_016169.4(SUFU):c.*1936C>T | Medulloblastoma [RCV000341098] | uncertain significance | 10 | 102632091 | 102632091 | Human | 2 | name |
| 11657518 | CV319866 | single nucleotide variant | NM_016169.4(SUFU):c.*2157C>T | Medulloblastoma [RCV000341841] | likely benign|uncertain significance | 10 | 102632312 | 102632312 | Human | 2 | name |
| 11653776 | CV319870 | single nucleotide variant | NM_016169.4(SUFU):c.*2553T>C | Medulloblastoma [RCV000313006] | uncertain significance | 10 | 102632708 | 102632708 | Human | 2 | name |
| 11653986 | CV319883 | single nucleotide variant | NM_016169.4(SUFU):c.*2668C>T | Medulloblastoma [RCV000314228]|not provided [RCV004718194] | benign|likely benign | 10 | 102632823 | 102632823 | Human | 7 | name |
| 11653986 | CV319883 | single nucleotide variant | NM_016169.4(SUFU):c.*2668C>T | Medulloblastoma [RCV000314228]|not provided [RCV004718194] | benign|likely benign | 10 | 102632823 | 102632824 | Human | 7 | name |
| 11646068 | CV319897 | single nucleotide variant | NM_016169.4(SUFU):c.*2729T>C | Medulloblastoma [RCV000268756] | uncertain significance | 10 | 102632884 | 102632884 | Human | 2 | name |
| 11655836 | CV319900 | single nucleotide variant | NM_016169.4(SUFU):c.*2956C>T | Medulloblastoma [RCV000328471] | uncertain significance | 10 | 102633111 | 102633111 | Human | 2 | name |
| 11655970 | CV320438 | single nucleotide variant | NM_016169.4(SUFU):c.*1451C>T | Medulloblastoma [RCV000329754] | uncertain significance | 10 | 102631606 | 102631606 | Human | 2 | name |
| 11662755 | CV320442 | single nucleotide variant | NM_016169.4(SUFU):c.*1633C>T | Medulloblastoma [RCV000389014]|not provided [RCV004718191] | benign|likely benign | 10 | 102631788 | 102631788 | Human | 2 | name |
| 11661506 | CV320443 | single nucleotide variant | NM_016169.4(SUFU):c.*1997A>G | Medulloblastoma [RCV000377085] | uncertain significance | 10 | 102632152 | 102632152 | Human | 2 | name |
| 11649390 | CV320445 | single nucleotide variant | NM_016169.4(SUFU):c.*2140G>T | Medulloblastoma [RCV000286894] | likely benign|uncertain significance | 10 | 102632295 | 102632295 | Human | 2 | name |
| 405708219 | CV3384327 | single nucleotide variant | NM_016169.4(SUFU):c.756+3A>G | Hereditary cancer-predisposing syndrome [RCV004522057] | uncertain significance | 10 | 102594068 | 102594068 | Human | 1 | name |
| 407497090 | CV3481819 | single nucleotide variant | NM_016169.4(SUFU):c.597+2T>G | Hereditary cancer-predisposing syndrome [RCV004668302] | uncertain significance | 10 | 102592726 | 102592726 | Human | 1 | name |
| 408386331 | CV3522466 | single nucleotide variant | NM_016169.4(SUFU):c.756+3A>T | not provided [RCV004767826] | uncertain significance | 10 | 102594068 | 102594068 | Human | | name |
| 597671391 | CV3611881 | single nucleotide variant | NM_016169.4(SUFU):c.182+5G>T | Hereditary cancer-predisposing syndrome [RCV004949249] | uncertain significance | 10 | 102504339 | 102504339 | Human | 1 | name |
| 597840145 | CV3867837 | single nucleotide variant | NM_016169.4(SUFU):c.757-4G>A | Gorlin syndrome [RCV005211033] | likely benign | 10 | 102597136 | 102597136 | Human | 2 | name |
| 597892233 | CV3868014 | single nucleotide variant | NM_016169.4(SUFU):c.598-7G>A | Gorlin syndrome [RCV005219042] | likely benign | 10 | 102593629 | 102593629 | Human | 2 | name |
| 597851161 | CV3877053 | single nucleotide variant | NM_016169.4(SUFU):c.598-5C>A | Gorlin syndrome [RCV005228281] | likely benign | 10 | 102593631 | 102593631 | Human | 2 | name |
| 598227490 | CV3892434 | single nucleotide variant | NM_016169.4(SUFU):c.684-2A>T | SUFU-related ocular motor apraxia [RCV005254269] | likely pathogenic | 10 | 102593991 | 102593991 | Human | | name |
| 12880614 | CV397651 | single nucleotide variant | NM_016169.4(SUFU):c.910+4G>A | Gorlin syndrome [RCV000456331]|Hereditary cancer-predisposing syndrome [RCV001018854] | uncertain significance | 10 | 102597297 | 102597297 | Human | 3 | name |
| 12887575 | CV397654 | single nucleotide variant | NM_016169.4(SUFU):c.911-7G>A | Gorlin syndrome [RCV000469308]|Hereditary cancer-predisposing syndrome [RCV002256252]|not provided [RCV001529883]|not specified [RCV001821240] | likely benign|uncertain significance | 10 | 102599426 | 102599426 | Human | 3 | name |
| 13493324 | CV459611 | single nucleotide variant | NM_016169.4(SUFU):c.182+8C>G | Gorlin syndrome [RCV000558101] | likely benign | 10 | 102504342 | 102504342 | Human | 2 | name |
| 13490474 | CV459622 | single nucleotide variant | NM_016169.4(SUFU):c.757-4G>T | Gorlin syndrome [RCV000556003]|Hereditary cancer-predisposing syndrome [RCV001026578] | likely benign|uncertain significance | 10 | 102597136 | 102597136 | Human | 3 | name |
| 13479258 | CV460472 | deletion | NM_016169.4(SUFU):c.183-4del | Gorlin syndrome [RCV001416587]|Hereditary cancer-predisposing syndrome [RCV000566079] | likely benign|uncertain significance | 10 | 102509165 | 102509165 | Human | 3 | name |
| 13608380 | CV525449 | single nucleotide variant | NM_016169.4(SUFU):c.183-1G>A | Gorlin syndrome [RCV000628498]|Hereditary cancer-predisposing syndrome [RCV004948478] | likely pathogenic|uncertain significance | 10 | 102509168 | 102509168 | Human | 3 | name |
| 13816512 | CV563537 | single nucleotide variant | NM_016169.4(SUFU):c.454+1G>A | Gorlin syndrome [RCV000692365] | pathogenic|likely pathogenic | 10 | 102550107 | 102550107 | Human | 2 | name |
| 14732180 | CV651997 | single nucleotide variant | NM_016169.4(SUFU):c.684-2A>G | Gorlin syndrome [RCV000801738] | likely pathogenic | 10 | 102593991 | 102593991 | Human | 2 | name |
| 14709937 | CV652024 | single nucleotide variant | NM_016169.4(SUFU):c.757-5A>G | Gorlin syndrome [RCV000809473] | uncertain significance | 10 | 102597135 | 102597135 | Human | 2 | name |
| 14713916 | CV652122 | single nucleotide variant | NM_016169.4(SUFU):c.182+3A>G | Gorlin syndrome [RCV000810718]|Hereditary cancer-predisposing syndrome [RCV002406823] | uncertain significance | 10 | 102504337 | 102504337 | Human | 3 | name |
| 14744979 | CV652310 | single nucleotide variant | NM_016169.4(SUFU):c.597+1G>C | Gorlin syndrome [RCV000824435] | likely pathogenic | 10 | 102592725 | 102592725 | Human | 2 | name |
| 15155812 | CV689969 | single nucleotide variant | NM_016169.4(SUFU):c.683+8C>T | Gorlin syndrome [RCV000868110] | likely benign | 10 | 102593729 | 102593729 | Human | 2 | name |
| 15160328 | CV759855 | single nucleotide variant | NM_016169.4(SUFU):c.318-7C>G | Gorlin syndrome [RCV000925462]|SUFU-related disorder [RCV004551865] | likely benign | 10 | 102549963 | 102549963 | Human | 3 | name , alternate_id |
| 15200835 | CV775455 | single nucleotide variant | NM_016169.4(SUFU):c.454+8G>A | Gorlin syndrome [RCV000935492] | likely benign | 10 | 102550114 | 102550114 | Human | 2 | name |
| 15123632 | CV787829 | single nucleotide variant | NM_016169.4(SUFU):c.683+7A>G | Gorlin syndrome [RCV001473821] | likely benign | 10 | 102593728 | 102593728 | Human | 2 | name |
| 25324347 | CV815421 | single nucleotide variant | NM_016169.4(SUFU):c.597+1G>A | Hereditary cancer-predisposing syndrome [RCV001024735] | likely pathogenic | 10 | 102592725 | 102592725 | Human | 1 | name |
| 25324349 | CV815422 | single nucleotide variant | NM_016169.4(SUFU):c.597+5G>A | Gorlin syndrome [RCV002067678]|Hereditary cancer-predisposing syndrome [RCV001024736] | likely benign|uncertain significance | 10 | 102592729 | 102592729 | Human | 3 | name |
| 25325496 | CV815423 | single nucleotide variant | NM_016169.4(SUFU):c.683+3G>A | Gorlin syndrome [RCV003769610]|Hereditary cancer-predisposing syndrome [RCV001025704] | likely benign|uncertain significance | 10 | 102593724 | 102593724 | Human | 3 | name |
| 26915678 | CV851363 | single nucleotide variant | NM_016169.4(SUFU):c.182+4T>C | Gorlin syndrome [RCV001041494] | uncertain significance | 10 | 102504338 | 102504338 | Human | 2 | name |
| 26885542 | CV851365 | single nucleotide variant | NM_016169.4(SUFU):c.597+6G>A | Gorlin syndrome [RCV001043615] | likely benign|uncertain significance | 10 | 102592730 | 102592730 | Human | 2 | name |
| 26906668 | CV852539 | single nucleotide variant | NM_016169.4(SUFU):c.317+5G>T | Gorlin syndrome [RCV001037579] | uncertain significance | 10 | 102509308 | 102509308 | Human | 2 | name |
| 28907761 | CV865303 | single nucleotide variant | NM_016169.4(SUFU):c.*1145A>G | Medulloblastoma [RCV001107404] | uncertain significance | 10 | 102631300 | 102631300 | Human | 2 | name |
| 28900322 | CV865304 | single nucleotide variant | NM_016169.4(SUFU):c.*1690A>G | Medulloblastoma [RCV001103777] | uncertain significance | 10 | 102631845 | 102631845 | Human | 2 | name |
| 28900324 | CV865305 | single nucleotide variant | NM_016169.4(SUFU):c.*1720C>G | Medulloblastoma [RCV001103778] | uncertain significance | 10 | 102631875 | 102631875 | Human | 2 | name |
| 28904732 | CV865306 | single nucleotide variant | NM_016169.4(SUFU):c.*1785C>T | Medulloblastoma [RCV001105718] | uncertain significance | 10 | 102631940 | 102631940 | Human | 2 | name |
| 28904736 | CV865307 | single nucleotide variant | NM_016169.4(SUFU):c.*1908C>G | Medulloblastoma [RCV001105719] | uncertain significance | 10 | 102632063 | 102632063 | Human | 2 | name |
| 28904740 | CV865308 | single nucleotide variant | NM_016169.4(SUFU):c.*2150G>A | Medulloblastoma [RCV001105720] | likely benign | 10 | 102632305 | 102632305 | Human | 2 | name |
| 28906764 | CV865309 | single nucleotide variant | NM_016169.4(SUFU):c.*2278C>G | Medulloblastoma [RCV001106836] | uncertain significance | 10 | 102632433 | 102632433 | Human | 2 | name |
| 28906766 | CV865310 | single nucleotide variant | NM_016169.4(SUFU):c.*2479C>T | Medulloblastoma [RCV001106837] | uncertain significance | 10 | 102632634 | 102632634 | Human | 2 | name |
| 28907930 | CV865311 | single nucleotide variant | NM_016169.4(SUFU):c.*2657T>C | Medulloblastoma [RCV001107498] | uncertain significance | 10 | 102632812 | 102632812 | Human | 2 | name |
| 28907931 | CV865312 | single nucleotide variant | NM_016169.4(SUFU):c.*2757G>A | Medulloblastoma [RCV001107499] | uncertain significance | 10 | 102632912 | 102632912 | Human | 2 | name |
| 28907933 | CV865313 | single nucleotide variant | NM_016169.4(SUFU):c.*3025T>C | Medulloblastoma [RCV001107500] | uncertain significance | 10 | 102633180 | 102633180 | Human | 2 | name |
| 28900526 | CV865314 | single nucleotide variant | NM_016169.4(SUFU):c.*3045A>G | Medulloblastoma [RCV001103873] | uncertain significance | 10 | 102633200 | 102633200 | Human | 2 | name |
| 28900528 | CV865315 | single nucleotide variant | NM_016169.4(SUFU):c.*3110C>T | Medulloblastoma [RCV001103874] | uncertain significance | 10 | 102633265 | 102633265 | Human | 2 | name |
| 28900531 | CV865316 | single nucleotide variant | NM_016169.4(SUFU):c.*3268G>C | Medulloblastoma [RCV001103875] | likely benign | 10 | 102633423 | 102633423 | Human | 2 | name |
| 38472866 | CV959927 | single nucleotide variant | NM_016169.4(SUFU):c.454+6A>T | Gorlin syndrome [RCV001231667] | uncertain significance | 10 | 102550112 | 102550112 | Human | 2 | name |
| 126774061 | CV1029432 | single nucleotide variant | NM_016169.4(SUFU):c.1365+1G>A | Gorlin syndrome [RCV001346789] | likely pathogenic|uncertain significance | 10 | 102627244 | 102627244 | Human | 2 | name |
| 127269229 | CV1076882 | single nucleotide variant | NM_016169.4(SUFU):c.1023-6T>C | Gorlin syndrome [RCV001404602]|not provided [RCV004998873] | likely benign|uncertain significance | 10 | 102615262 | 102615262 | Human | 2 | name |
| 127332109 | CV1140954 | single nucleotide variant | NM_016169.4(SUFU):c.1296+9G>T | Gorlin syndrome [RCV001489281] | likely benign | 10 | 102617437 | 102617437 | Human | 2 | name |
| 150434975 | CV1206881 | single nucleotide variant | NM_016169.4(SUFU):c.598-68G>C | not provided [RCV001582230] | likely benign | 10 | 102593568 | 102593568 | Human | | name |
| 150431763 | CV1236518 | single nucleotide variant | NM_016169.4(SUFU):c.757-75A>G | not provided [RCV001641922] | benign | 10 | 102597065 | 102597065 | Human | | name |
| 151728049 | CV1335119 | single nucleotide variant | NM_016169.4(SUFU):c.1366-1G>A | not provided [RCV001844437] | not provided | 10 | 102630065 | 102630065 | Human | | name |
| 151863964 | CV1336752 | single nucleotide variant | NM_016169.4(SUFU):c.318-53G>T | not provided [RCV002034801] | likely benign | 10 | 102549917 | 102549917 | Human | | name |
| 151780522 | CV1357591 | single nucleotide variant | NM_016169.4(SUFU):c.1296+3G>A | Gorlin syndrome [RCV001875312]|Hereditary cancer-predisposing syndrome [RCV002386662] | uncertain significance | 10 | 102617431 | 102617431 | Human | 3 | name |
| 151875835 | CV1466893 | single nucleotide variant | NM_016169.4(SUFU):c.1158-3C>T | Gorlin syndrome [RCV001885848]|Hereditary cancer-predisposing syndrome [RCV004041068] | uncertain significance | 10 | 102617287 | 102617287 | Human | 3 | name |
| 152097982 | CV1531590 | single nucleotide variant | NM_016169.4(SUFU):c.911-19C>T | Gorlin syndrome [RCV002213622] | likely benign | 10 | 102599414 | 102599414 | Human | 2 | name |
| 152052698 | CV1531762 | single nucleotide variant | NM_016169.4(SUFU):c.317+18G>C | Gorlin syndrome [RCV002072578] | likely benign | 10 | 102509321 | 102509321 | Human | 2 | name |
| 152085180 | CV1533694 | single nucleotide variant | NM_016169.4(SUFU):c.455-17T>G | Gorlin syndrome [RCV002093385] | likely benign | 10 | 102592565 | 102592565 | Human | 2 | name |
| 152059262 | CV1536048 | single nucleotide variant | NM_016169.4(SUFU):c.455-19C>A | Gorlin syndrome [RCV002146581] | likely benign | 10 | 102592563 | 102592563 | Human | 2 | name |
| 152162810 | CV1537403 | single nucleotide variant | NM_016169.4(SUFU):c.911-12G>A | Gorlin syndrome [RCV002159946] | likely benign | 10 | 102599421 | 102599421 | Human | 2 | name |
| 152059199 | CV1539202 | single nucleotide variant | NM_016169.4(SUFU):c.182+14C>G | Gorlin syndrome [RCV002073468] | likely benign | 10 | 102504348 | 102504348 | Human | 2 | name |
| 152026172 | CV1540621 | single nucleotide variant | NM_016169.4(SUFU):c.911-10G>T | Gorlin syndrome [RCV002104466] | likely benign | 10 | 102599423 | 102599423 | Human | 2 | name |
| 152165236 | CV1543724 | single nucleotide variant | NM_016169.4(SUFU):c.182+11G>A | Gorlin syndrome [RCV002123969] | likely benign | 10 | 102504345 | 102504345 | Human | 2 | name |
| 152159256 | CV1544367 | single nucleotide variant | NM_016169.4(SUFU):c.911-16A>C | Gorlin syndrome [RCV002122902] | benign | 10 | 102599417 | 102599417 | Human | 2 | name |
| 152118770 | CV1558229 | single nucleotide variant | NM_016169.4(SUFU):c.683+12T>C | Gorlin syndrome [RCV002135436] | likely benign | 10 | 102593733 | 102593733 | Human | 2 | name |
| 152106041 | CV1560015 | single nucleotide variant | NM_016169.4(SUFU):c.454+10C>T | Gorlin syndrome [RCV002133863] | likely benign | 10 | 102550116 | 102550116 | Human | 2 | name |
| 152135788 | CV1560464 | single nucleotide variant | NM_016169.4(SUFU):c.183-20C>T | Gorlin syndrome [RCV002137524] | likely benign | 10 | 102509149 | 102509149 | Human | 2 | name |
| 152067502 | CV1566873 | single nucleotide variant | NM_016169.4(SUFU):c.183-16G>A | Gorlin syndrome [RCV002091128] | likely benign | 10 | 102509153 | 102509153 | Human | 2 | name |
| 152141510 | CV1588467 | single nucleotide variant | NM_016169.4(SUFU):c.183-17T>C | Gorlin syndrome [RCV002200633] | likely benign | 10 | 102509152 | 102509152 | Human | 2 | name |
| 152045492 | CV1588813 | single nucleotide variant | NM_016169.4(SUFU):c.317+15C>A | Gorlin syndrome [RCV002188788] | likely benign | 10 | 102509318 | 102509318 | Human | 2 | name |
| 152091885 | CV1594369 | duplication | NM_016169.4(SUFU):c.454+11dup | Gorlin syndrome [RCV002171933] | likely benign | 10 | 102550116 | 102550117 | Human | 2 | name |
| 152143883 | CV1596839 | single nucleotide variant | NM_016169.4(SUFU):c.911-17T>C | Gorlin syndrome [RCV002157130] | likely benign | 10 | 102599416 | 102599416 | Human | 2 | name |
| 152162398 | CV1606309 | single nucleotide variant | NM_016169.4(SUFU):c.318-10T>C | Gorlin syndrome [RCV002181153] | likely benign | 10 | 102549960 | 102549960 | Human | 2 | name |
| 152142733 | CV1607404 | single nucleotide variant | NM_016169.4(SUFU):c.684-14T>G | Gorlin syndrome [RCV002101001] | likely benign | 10 | 102593979 | 102593979 | Human | 2 | name |
| 152106247 | CV1609023 | single nucleotide variant | NM_016169.4(SUFU):c.910+20A>G | Gorlin syndrome [RCV002096203] | likely benign | 10 | 102597313 | 102597313 | Human | 2 | name |
| 152055041 | CV1610075 | single nucleotide variant | NM_016169.4(SUFU):c.757-17T>G | Gorlin syndrome [RCV002167325] | likely benign | 10 | 102597123 | 102597123 | Human | 2 | name |
| 152039372 | CV1617106 | single nucleotide variant | NM_016169.4(SUFU):c.318-11A>C | Gorlin syndrome [RCV002087727] | likely benign | 10 | 102549959 | 102549959 | Human | 2 | name |
| 152160993 | CV1619260 | single nucleotide variant | NM_016169.4(SUFU):c.684-17C>G | Gorlin syndrome [RCV002159635]|not specified [RCV005232791] | likely benign | 10 | 102593976 | 102593976 | Human | 2 | name |
| 152079803 | CV1620614 | single nucleotide variant | NM_016169.4(SUFU):c.598-12C>T | Gorlin syndrome [RCV002112592] | likely benign | 10 | 102593624 | 102593624 | Human | 2 | name |
| 152080870 | CV1623151 | single nucleotide variant | NM_016169.4(SUFU):c.757-20C>T | Gorlin syndrome [RCV002170517] | likely benign | 10 | 102597120 | 102597120 | Human | 2 | name |
| 152098732 | CV1627129 | single nucleotide variant | NM_016169.4(SUFU):c.182+17G>T | Gorlin syndrome [RCV002095223] | likely benign | 10 | 102504351 | 102504351 | Human | 2 | name |
| 152070784 | CV1628487 | single nucleotide variant | NM_016169.4(SUFU):c.1157+7G>C | Gorlin syndrome [RCV002169261] | likely benign | 10 | 102615409 | 102615409 | Human | 2 | name |
| 152097188 | CV1636620 | single nucleotide variant | NM_016169.4(SUFU):c.597+18C>T | Gorlin syndrome [RCV002132790] | likely benign | 10 | 102592742 | 102592742 | Human | 2 | name |
| 152070073 | CV1640315 | deletion | NM_016169.4(SUFU):c.684-11del | Gorlin syndrome [RCV002147955] | likely benign | 10 | 102593981 | 102593981 | Human | 2 | name |
| 152105870 | CV1640831 | single nucleotide variant | NM_016169.4(SUFU):c.684-12C>T | Gorlin syndrome [RCV002096151] | likely benign | 10 | 102593981 | 102593981 | Human | 2 | name |
| 152123827 | CV1641189 | single nucleotide variant | NM_016169.4(SUFU):c.182+20G>A | Gorlin syndrome [RCV002098531] | likely benign | 10 | 102504354 | 102504354 | Human | 2 | name |
| 152135694 | CV1642450 | single nucleotide variant | NM_016169.4(SUFU):c.597+11G>A | Gorlin syndrome [RCV002119673] | likely benign | 10 | 102592735 | 102592735 | Human | 2 | name |
| 152063664 | CV1644807 | single nucleotide variant | NM_016169.4(SUFU):c.1366-6C>T | Gorlin syndrome [RCV002147099] | likely benign | 10 | 102630060 | 102630060 | Human | 2 | name |
| 152028544 | CV1655287 | single nucleotide variant | NM_016169.4(SUFU):c.455-18C>T | Gorlin syndrome [RCV002105271] | likely benign | 10 | 102592564 | 102592564 | Human | 2 | name |
| 152048614 | CV1656902 | single nucleotide variant | NM_016169.4(SUFU):c.597+12G>T | Gorlin syndrome [RCV002189120] | likely benign | 10 | 102592736 | 102592736 | Human | 2 | name |
| 152113763 | CV1665481 | single nucleotide variant | NM_016169.4(SUFU):c.757-15G>T | Gorlin syndrome [RCV002097196] | likely benign | 10 | 102597125 | 102597125 | Human | 2 | name |
| 8557518 | CV18610 | single nucleotide variant | NM_016169.4(SUFU):c.1022+1G>A | Basal cell nevus syndrome 2 [RCV003223388]|Gorlin syndrome [RCV000814945]|Hereditary cancer-predisposing syndrome [RCV002415392]|Medulloblastoma [RCV002291207]|SUFU-related disorder [RCV001270787]|not provided [RCV000524075] | pathogenic|uncertain significance|other | 10 | 102599545 | 102599545 | Human | 5 | name , alternate_id |
| 156153264 | CV1875254 | single nucleotide variant | NM_016169.4(SUFU):c.597+19G>A | Gorlin syndrome [RCV003056611] | likely benign | 10 | 102592743 | 102592743 | Human | 2 | name |
| 156207210 | CV1932042 | single nucleotide variant | NM_016169.4(SUFU):c.455-15G>A | Gorlin syndrome [RCV002643853] | likely benign | 10 | 102592567 | 102592567 | Human | 2 | name |
| 156404402 | CV1993273 | single nucleotide variant | NM_016169.4(SUFU):c.317+11G>A | Gorlin syndrome [RCV002658043] | likely benign | 10 | 102509314 | 102509314 | Human | 2 | name |
| 156049959 | CV2006678 | single nucleotide variant | NM_016169.4(SUFU):c.183-18G>C | Gorlin syndrome [RCV002659332] | likely benign | 10 | 102509151 | 102509151 | Human | 2 | name |
| 156395981 | CV2012290 | single nucleotide variant | NM_016169.4(SUFU):c.911-10G>A | Gorlin syndrome [RCV002725550] | likely benign | 10 | 102599423 | 102599423 | Human | 2 | name |
| 156007471 | CV2015118 | single nucleotide variant | NM_016169.4(SUFU):c.597+12G>C | Gorlin syndrome [RCV002690340] | likely benign | 10 | 102592736 | 102592736 | Human | 2 | name |
| 156171383 | CV2075584 | single nucleotide variant | NM_016169.4(SUFU):c.684-20T>C | Gorlin syndrome [RCV002851541] | likely benign | 10 | 102593973 | 102593973 | Human | 2 | name |
| 156197841 | CV2095428 | single nucleotide variant | NM_016169.4(SUFU):c.598-18T>C | Gorlin syndrome [RCV002917681] | likely benign | 10 | 102593618 | 102593618 | Human | 2 | name |
| 156126169 | CV2100545 | single nucleotide variant | NM_016169.4(SUFU):c.598-12C>G | Gorlin syndrome [RCV002889760] | likely benign | 10 | 102593624 | 102593624 | Human | 2 | name |
| 156125355 | CV2104076 | single nucleotide variant | NM_016169.4(SUFU):c.454+18G>T | Gorlin syndrome [RCV002914333] | likely benign | 10 | 102550124 | 102550124 | Human | 2 | name |
| 156030290 | CV2105525 | single nucleotide variant | NM_016169.4(SUFU):c.455-13A>G | Gorlin syndrome [RCV002910036] | likely benign | 10 | 102592569 | 102592569 | Human | 2 | name |
| 156366495 | CV2116592 | single nucleotide variant | NM_016169.4(SUFU):c.454+13G>C | Gorlin syndrome [RCV002941989] | likely benign | 10 | 102550119 | 102550119 | Human | 2 | name |
| 156107056 | CV2120947 | single nucleotide variant | NM_016169.4(SUFU):c.910+15T>G | Gorlin syndrome [RCV002952953] | likely benign | 10 | 102597308 | 102597308 | Human | 2 | name |
| 156020041 | CV2141193 | single nucleotide variant | NM_016169.4(SUFU):c.454+15C>T | Gorlin syndrome [RCV002976108] | likely benign | 10 | 102550121 | 102550121 | Human | 2 | name |
| 156302892 | CV2146458 | single nucleotide variant | NM_016169.4(SUFU):c.317+15C>T | Gorlin syndrome [RCV003028179] | likely benign | 10 | 102509318 | 102509318 | Human | 2 | name |
| 155935129 | CV2149734 | single nucleotide variant | NM_016169.4(SUFU):c.455-13A>T | Gorlin syndrome [RCV003013882] | likely benign | 10 | 102592569 | 102592569 | Human | 2 | name |
| 156272605 | CV2168185 | deletion | NM_016169.4(SUFU):c.318-11del | Gorlin syndrome [RCV003027045] | likely benign | 10 | 102549959 | 102549959 | Human | 2 | name |
| 156215855 | CV2176621 | single nucleotide variant | NM_016169.4(SUFU):c.756+19A>G | Gorlin syndrome [RCV003024995] | likely benign | 10 | 102594084 | 102594084 | Human | 2 | name |
| 156106213 | CV2180998 | single nucleotide variant | NM_016169.4(SUFU):c.598-14A>G | Gorlin syndrome [RCV003054910] | likely benign | 10 | 102593622 | 102593622 | Human | 2 | name |
| 156096963 | CV2183623 | single nucleotide variant | NM_016169.4(SUFU):c.597+15G>A | Gorlin syndrome [RCV003054576] | uncertain significance | 10 | 102592739 | 102592739 | Human | 2 | name |
| 156277595 | CV2188443 | single nucleotide variant | NM_016169.4(SUFU):c.1157+1G>A | Gorlin syndrome [RCV003044669] | likely pathogenic | 10 | 102615403 | 102615403 | Human | 2 | name |
| 11544233 | CV253668 | single nucleotide variant | NM_016169.4(SUFU):c.182+16C>T | Familial meningioma [RCV003316436]|Gorlin syndrome [RCV001815267]|Gorlin syndrome [RCV002058264]|Joubert syndrome 32 [RCV001815268]|not provided [RCV000588053]|not specified [RCV000243512] | benign | 10 | 102504350 | 102504350 | Human | 4 | name |
| 401862440 | CV2775302 | single nucleotide variant | NM_016169.4(SUFU):c.1297-4A>G | Hereditary cancer-predisposing syndrome [RCV003343224] | likely benign | 10 | 102627171 | 102627171 | Human | 1 | name |
| 405022758 | CV3081859 | single nucleotide variant | NM_016169.4(SUFU):c.1365+8T>C | Gorlin syndrome [RCV003785465] | likely benign | 10 | 102627251 | 102627251 | Human | 2 | name |
| 405024346 | CV3082022 | single nucleotide variant | NM_016169.4(SUFU):c.684-11C>T | Gorlin syndrome [RCV003785628] | likely benign | 10 | 102593982 | 102593982 | Human | 2 | name |
| 402492829 | CV3082188 | single nucleotide variant | NM_016169.4(SUFU):c.455-19C>T | Gorlin syndrome [RCV003787748] | likely benign | 10 | 102592563 | 102592563 | Human | 2 | name |
| 405011465 | CV3083437 | single nucleotide variant | NM_016169.4(SUFU):c.910+13A>G | Gorlin syndrome [RCV003784384] | likely benign | 10 | 102597306 | 102597306 | Human | 2 | name |
| 404994678 | CV3085300 | single nucleotide variant | NM_016169.4(SUFU):c.1365+6C>T | Gorlin syndrome [RCV003782831] | uncertain significance | 10 | 102627249 | 102627249 | Human | 2 | name |
| 405021361 | CV3085638 | single nucleotide variant | NM_016169.4(SUFU):c.597+13T>C | Gorlin syndrome [RCV003785361] | likely benign | 10 | 102592737 | 102592737 | Human | 2 | name |
| 404999469 | CV3085915 | single nucleotide variant | NM_016169.4(SUFU):c.182+18G>C | Gorlin syndrome [RCV003783285] | likely benign | 10 | 102504352 | 102504352 | Human | 2 | name |
| 402511270 | CV3089167 | single nucleotide variant | NM_016169.4(SUFU):c.183-13T>C | Gorlin syndrome [RCV003780199] | likely benign | 10 | 102509156 | 102509156 | Human | 2 | name |
| 402510856 | CV3089256 | single nucleotide variant | NM_016169.4(SUFU):c.756+12G>C | Gorlin syndrome [RCV003780288] | likely benign | 10 | 102594077 | 102594077 | Human | 2 | name |
| 402511397 | CV3091220 | single nucleotide variant | NM_016169.4(SUFU):c.1297-7T>C | Gorlin syndrome [RCV003789678] | likely benign | 10 | 102627168 | 102627168 | Human | 2 | name |
| 402484830 | CV3093712 | deletion | NM_016169.4(SUFU):c.683+10del | Gorlin syndrome [RCV003786912] | likely benign | 10 | 102593729 | 102593729 | Human | 2 | name |
| 405000873 | CV3095452 | deletion | NM_016169.4(SUFU):c.318-19del | Gorlin syndrome [RCV003793755] | likely benign | 10 | 102549950 | 102549950 | Human | 2 | name |
| 404984890 | CV3096523 | single nucleotide variant | NM_016169.4(SUFU):c.318-11A>G | Gorlin syndrome [RCV003792072] | likely benign | 10 | 102549959 | 102549959 | Human | 2 | name |
| 404979573 | CV3099443 | single nucleotide variant | NM_016169.4(SUFU):c.683+10C>A | Gorlin syndrome [RCV003791271] | likely benign | 10 | 102593731 | 102593731 | Human | 2 | name |
| 405070388 | CV3099797 | single nucleotide variant | NM_016169.4(SUFU):c.1365+7T>A | Gorlin syndrome [RCV003799512] | likely benign | 10 | 102627250 | 102627250 | Human | 2 | name |
| 405017837 | CV3100786 | single nucleotide variant | NM_016169.4(SUFU):c.1296+5G>A | Gorlin syndrome [RCV003805534] | uncertain significance | 10 | 102617433 | 102617433 | Human | 2 | name |
| 405022259 | CV3101401 | single nucleotide variant | NM_016169.4(SUFU):c.683+18G>A | Gorlin syndrome [RCV003805980] | likely benign | 10 | 102593739 | 102593739 | Human | 2 | name |
| 405179073 | CV3101521 | single nucleotide variant | NM_016169.4(SUFU):c.597+19G>T | Gorlin syndrome [RCV003803734] | likely benign | 10 | 102592743 | 102592743 | Human | 2 | name |
| 405005040 | CV3102304 | single nucleotide variant | NM_016169.4(SUFU):c.183-11G>T | Gorlin syndrome [RCV003804350] | likely benign | 10 | 102509158 | 102509158 | Human | 2 | name |
| 405073504 | CV3104043 | single nucleotide variant | NM_016169.4(SUFU):c.683+19T>C | Gorlin syndrome [RCV003799713] | likely benign | 10 | 102593740 | 102593740 | Human | 2 | name |
| 405167949 | CV3104078 | single nucleotide variant | NM_016169.4(SUFU):c.455-10T>A | Gorlin syndrome [RCV003802755] | uncertain significance | 10 | 102592572 | 102592572 | Human | 2 | name |
| 405017226 | CV3107081 | single nucleotide variant | NM_016169.4(SUFU):c.756+10G>T | Gorlin syndrome [RCV003795252]|not specified [RCV005230574] | likely benign|uncertain significance | 10 | 102594075 | 102594075 | Human | 2 | name |
| 405166448 | CV3107140 | single nucleotide variant | NM_016169.4(SUFU):c.455-20T>A | Gorlin syndrome [RCV003802631] | likely benign | 10 | 102592562 | 102592562 | Human | 2 | name |
| 405063271 | CV3108800 | single nucleotide variant | NM_016169.4(SUFU):c.911-14T>C | Gorlin syndrome [RCV003809210] | likely benign | 10 | 102599419 | 102599419 | Human | 2 | name |
| 405010815 | CV3109215 | single nucleotide variant | NM_016169.4(SUFU):c.1158-9C>T | Gorlin syndrome [RCV003804883] | likely benign | 10 | 102617281 | 102617281 | Human | 2 | name |
| 405158069 | CV3109353 | single nucleotide variant | NM_016169.4(SUFU):c.317+12C>T | Gorlin syndrome [RCV003801876] | likely benign | 10 | 102509315 | 102509315 | Human | 2 | name |
| 405039973 | CV3112773 | single nucleotide variant | NM_016169.4(SUFU):c.455-11C>G | Gorlin syndrome [RCV003807440] | likely benign | 10 | 102592571 | 102592571 | Human | 2 | name |
| 405043715 | CV3113016 | single nucleotide variant | NM_016169.4(SUFU):c.318-17C>T | Gorlin syndrome [RCV003807683] | likely benign | 10 | 102549953 | 102549953 | Human | 2 | name |
| 11660957 | CV313979 | single nucleotide variant | NM_016169.4(SUFU):c.910+14C>T | Gorlin syndrome [RCV002059517]|Medulloblastoma [RCV000371798]|Meningioma [RCV005355624]|SUFU-related disorder [RCV004549657]|not provided [RCV001579614]|not specified [RCV000612172] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 10 | 102597307 | 102597307 | Human | 6 | name , alternate_id |
| 11645889 | CV319853 | single nucleotide variant | NM_016169.4(SUFU):c.183-13T>G | Medulloblastoma [RCV000267653] | uncertain significance | 10 | 102509156 | 102509156 | Human | 2 | name |
| 11644776 | CV319855 | single nucleotide variant | NM_016169.4(SUFU):c.756+10G>C | Gorlin syndrome [RCV001408156]|Medulloblastoma [RCV000261878] | likely benign|uncertain significance | 10 | 102594075 | 102594075 | Human | 3 | name |
| 405853872 | CV3395292 | single nucleotide variant | NM_016169.4(SUFU):c.1365+5G>C | Joubert syndrome 32 [RCV004555429] | uncertain significance | 10 | 102627248 | 102627248 | Human | 1 | name |
| 405869816 | CV3399542 | deletion | NM_016169.4(SUFU):c.1157+1del | Familial meningioma [RCV004573687] | likely pathogenic | 10 | 102615402 | 102615402 | Human | 1 | name |
| 405869817 | CV3399543 | single nucleotide variant | NM_016169.4(SUFU):c.598-83G>A | Familial meningioma [RCV004573688] | uncertain significance | 10 | 102593553 | 102593553 | Human | 1 | name |
| 596946845 | CV3548679 | single nucleotide variant | NM_016169.4(SUFU):c.1023-4A>T | not provided [RCV004810507] | uncertain significance | 10 | 102615264 | 102615264 | Human | | name |
| 597671359 | CV3611877 | single nucleotide variant | NM_016169.4(SUFU):c.1157+4A>G | Hereditary cancer-predisposing syndrome [RCV004949245] | uncertain significance | 10 | 102615406 | 102615406 | Human | 1 | name |
| 597671517 | CV3611899 | duplication | NM_016169.4(SUFU):c.1022+2dup | Hereditary cancer-predisposing syndrome [RCV004949266] | uncertain significance | 10 | 102599545 | 102599546 | Human | 1 | name |
| 597833742 | CV3864156 | single nucleotide variant | NM_016169.4(SUFU):c.454+17G>C | Gorlin syndrome [RCV005209792] | likely benign | 10 | 102550123 | 102550123 | Human | 2 | name |
| 597840908 | CV3864578 | single nucleotide variant | NM_016169.4(SUFU):c.183-19T>C | Gorlin syndrome [RCV005211189] | likely benign | 10 | 102509150 | 102509150 | Human | 2 | name |
| 597895951 | CV3865592 | single nucleotide variant | NM_016169.4(SUFU):c.756+17G>A | Gorlin syndrome [RCV005219570] | likely benign | 10 | 102594082 | 102594082 | Human | 2 | name |
| 597897438 | CV3866168 | single nucleotide variant | NM_016169.4(SUFU):c.1365+2T>G | Gorlin syndrome [RCV005219785] | likely pathogenic | 10 | 102627245 | 102627245 | Human | 2 | name |
| 597869954 | CV3866225 | single nucleotide variant | NM_016169.4(SUFU):c.756+16G>A | Gorlin syndrome [RCV005215566] | likely benign | 10 | 102594081 | 102594081 | Human | 2 | name |
| 597885416 | CV3866488 | single nucleotide variant | NM_016169.4(SUFU):c.317+16C>G | Gorlin syndrome [RCV005217964] | likely benign | 10 | 102509319 | 102509319 | Human | 2 | name |
| 597838063 | CV3866921 | single nucleotide variant | NM_016169.4(SUFU):c.684-19C>A | Gorlin syndrome [RCV005225913] | likely benign | 10 | 102593974 | 102593974 | Human | 2 | name |
| 597868089 | CV3869396 | single nucleotide variant | NM_016169.4(SUFU):c.598-13T>C | Gorlin syndrome [RCV005215326] | likely benign | 10 | 102593623 | 102593623 | Human | 2 | name |
| 597855292 | CV3870624 | single nucleotide variant | NM_016169.4(SUFU):c.317+14A>G | Gorlin syndrome [RCV005228825] | likely benign | 10 | 102509317 | 102509317 | Human | 2 | name |
| 597854083 | CV3873855 | single nucleotide variant | NM_016169.4(SUFU):c.683+14C>A | Gorlin syndrome [RCV005228640] | likely benign | 10 | 102593735 | 102593735 | Human | 2 | name |
| 597863309 | CV3875358 | single nucleotide variant | NM_016169.4(SUFU):c.598-14A>C | Gorlin syndrome [RCV005214535] | likely benign | 10 | 102593622 | 102593622 | Human | 2 | name |
| 597898943 | CV3876138 | single nucleotide variant | NM_016169.4(SUFU):c.1365+5G>A | Gorlin syndrome [RCV005220028] | uncertain significance | 10 | 102627248 | 102627248 | Human | 2 | name |
| 597900793 | CV3876561 | single nucleotide variant | NM_016169.4(SUFU):c.911-13G>T | Gorlin syndrome [RCV005220259] | likely benign | 10 | 102599420 | 102599420 | Human | 2 | name |
| 597850227 | CV3876940 | single nucleotide variant | NM_016169.4(SUFU):c.757-15G>A | Gorlin syndrome [RCV005228167] | likely benign | 10 | 102597125 | 102597125 | Human | 2 | name |
| 597929096 | CV3879137 | single nucleotide variant | NM_016169.4(SUFU):c.684-13T>C | Gorlin syndrome [RCV005224634] | likely benign | 10 | 102593980 | 102593980 | Human | 2 | name |
| 597911661 | CV3879569 | single nucleotide variant | NM_016169.4(SUFU):c.454+11A>G | Gorlin syndrome [RCV005221970] | likely benign | 10 | 102550117 | 102550117 | Human | 2 | name |
| 598124203 | CV3881366 | single nucleotide variant | NM_016169.4(SUFU):c.454+45G>T | not specified [RCV005231791] | likely benign | 10 | 102550151 | 102550151 | Human | | name |
| 598124204 | CV3881367 | single nucleotide variant | NM_016169.4(SUFU):c.597+32T>A | not specified [RCV005231792] | likely benign | 10 | 102592756 | 102592756 | Human | | name |
| 598124205 | CV3881368 | single nucleotide variant | NM_016169.4(SUFU):c.598-22G>A | not specified [RCV005231793] | likely benign | 10 | 102593614 | 102593614 | Human | | name |
| 598124206 | CV3881369 | single nucleotide variant | NM_016169.4(SUFU):c.683+13G>A | not specified [RCV005231794] | likely benign | 10 | 102593734 | 102593734 | Human | | name |
| 598124207 | CV3881370 | single nucleotide variant | NM_016169.4(SUFU):c.683+33C>T | not specified [RCV005231795] | likely benign | 10 | 102593754 | 102593754 | Human | | name |
| 598124208 | CV3881371 | single nucleotide variant | NM_016169.4(SUFU):c.684-33A>G | not specified [RCV005231796] | likely benign | 10 | 102593960 | 102593960 | Human | | name |
| 598252115 | CV3916242 | single nucleotide variant | NM_016169.4(SUFU):c.1366-3C>A | Hereditary cancer-predisposing syndrome [RCV005278030] | uncertain significance | 10 | 102630063 | 102630063 | Human | 1 | name |
| 12889448 | CV397359 | single nucleotide variant | NM_016169.4(SUFU):c.1023-3C>T | Gorlin syndrome [RCV000472764]|Gorlin syndrome [RCV000988447]|Hereditary cancer-predisposing syndrome [RCV001017042] | likely benign|uncertain significance | 10 | 102615265 | 102615265 | Human | 3 | name |
| 12889195 | CV397360 | single nucleotide variant | NM_016169.4(SUFU):c.1023-2A>T | Gorlin syndrome [RCV000472343]|Joubert syndrome 32 [RCV003448312] | likely pathogenic | 10 | 102615266 | 102615266 | Human | 3 | name |
| 12884643 | CV397525 | single nucleotide variant | NM_016169.4(SUFU):c.183-10T>C | Gorlin syndrome [RCV000463824] | likely benign | 10 | 102509159 | 102509159 | Human | 2 | name |
| 13473359 | CV460083 | single nucleotide variant | NM_016169.4(SUFU):c.1023-8C>T | Gorlin syndrome [RCV000525343] | likely benign | 10 | 102615260 | 102615260 | Human | 2 | name |
| 13489726 | CV460091 | single nucleotide variant | NM_016169.4(SUFU):c.1158-8A>G | Gorlin syndrome [RCV000555497] | likely benign | 10 | 102617282 | 102617282 | Human | 2 | name |
| 13540216 | CV502733 | single nucleotide variant | NM_016169.4(SUFU):c.683+17G>A | Gorlin syndrome [RCV002063948]|not specified [RCV000614386] | likely benign | 10 | 102593738 | 102593738 | Human | 2 | name |
| 13537919 | CV503243 | single nucleotide variant | NM_016169.4(SUFU):c.318-17C>A | Gorlin syndrome [RCV002063921]|SUFU-related disorder [RCV004547722]|not provided [RCV004705688]|not specified [RCV000611076] | likely benign | 10 | 102549953 | 102549953 | Human | 3 | name , alternate_id |
| 13526650 | CV503554 | single nucleotide variant | NM_016169.4(SUFU):c.1157+6C>T | Gorlin syndrome [RCV001041817]|not specified [RCV000604414] | likely benign|uncertain significance | 10 | 102615408 | 102615408 | Human | 2 | name |
| 13608374 | CV525279 | single nucleotide variant | NM_016169.4(SUFU):c.1157+3G>A | Gorlin syndrome [RCV000628496]|Hereditary cancer-predisposing syndrome [RCV001010035] | benign|likely benign|uncertain significance | 10 | 102615405 | 102615405 | Human | 3 | name |
| 14733919 | CV663996 | deletion | NM_016169.4(SUFU):c.183-67del | not provided [RCV000837317] | benign | 10 | 102509102 | 102509102 | Human | | name |
| 14733921 | CV664505 | single nucleotide variant | NM_016169.4(SUFU):c.183-66C>A | not provided [RCV000837318] | benign | 10 | 102509103 | 102509103 | Human | | name |
| 14732491 | CV664547 | single nucleotide variant | NM_016169.4(SUFU):c.183-49G>C | not provided [RCV000836612] | benign | 10 | 102509120 | 102509120 | Human | | name |
| 15105285 | CV689970 | single nucleotide variant | NM_016169.4(SUFU):c.1157+7G>A | Gorlin syndrome [RCV001437609] | likely benign | 10 | 102615409 | 102615409 | Human | 2 | name |
| 15141631 | CV695466 | single nucleotide variant | NM_016169.4(SUFU):c.1366-8C>T | Gorlin syndrome [RCV000877709]|not provided [RCV004761845] | likely benign|uncertain significance | 10 | 102630058 | 102630058 | Human | 2 | name |
| 15151046 | CV730664 | single nucleotide variant | NM_016169.4(SUFU):c.1366-4A>G | Gorlin syndrome [RCV001504972]|Hereditary cancer-predisposing syndrome [RCV002382023] | likely benign | 10 | 102630062 | 102630062 | Human | 3 | name |
| 15198967 | CV775592 | single nucleotide variant | NM_016169.4(SUFU):c.1023-9G>C | Gorlin syndrome [RCV002544487] | likely benign | 10 | 102615259 | 102615259 | Human | 2 | name |
| 15173579 | CV775602 | single nucleotide variant | NM_016169.4(SUFU):c.1158-4C>T | Gorlin syndrome [RCV001472907] | likely benign | 10 | 102617286 | 102617286 | Human | 2 | name |
| 25323751 | CV815424 | single nucleotide variant | NM_016169.4(SUFU):c.1297-5C>T | Gorlin syndrome [RCV002549327]|Hereditary cancer-predisposing syndrome [RCV001010815] | likely benign|uncertain significance | 10 | 102627170 | 102627170 | Human | 3 | name |
| 26922332 | CV852544 | single nucleotide variant | NM_016169.4(SUFU):c.1365+6C>A | Gorlin syndrome [RCV001061880] | likely benign|uncertain significance | 10 | 102627249 | 102627249 | Human | 2 | name |
| 38458870 | CV960712 | single nucleotide variant | NM_016169.4(SUFU):c.1022+6T>C | Gorlin syndrome [RCV001246436] | uncertain significance | 10 | 102599550 | 102599550 | Human | 2 | name |
| 150424754 | CV1184313 | single nucleotide variant | NM_016169.4(SUFU):c.1023-23C>G | not provided [RCV001557081]|not specified [RCV005232625] | benign|likely benign | 10 | 102615245 | 102615245 | Human | | name |
| 150427941 | CV1187540 | single nucleotide variant | NM_016169.4(SUFU):c.318-245T>C | not provided [RCV001561595] | likely benign | 10 | 102549725 | 102549725 | Human | | name |
| 150404491 | CV1194291 | single nucleotide variant | NM_016169.4(SUFU):c.757-120G>A | not provided [RCV001571181] | likely benign | 10 | 102597020 | 102597020 | Human | | name |
| 150434461 | CV1204354 | single nucleotide variant | NM_016169.4(SUFU):c.756+245T>C | not provided [RCV001582103] | likely benign | 10 | 102594310 | 102594310 | Human | | name |
| 150479890 | CV1207910 | single nucleotide variant | NM_016169.4(SUFU):c.1157+75C>T | not provided [RCV001590186] | likely benign | 10 | 102615477 | 102615477 | Human | | name |
| 150483725 | CV1222349 | single nucleotide variant | NM_016169.4(SUFU):c.1022+49T>C | not provided [RCV001617352] | benign | 10 | 102599593 | 102599593 | Human | 3 | name |
| 150483725 | CV1222349 | single nucleotide variant | NM_016169.4(SUFU):c.1022+49T>C | not provided [RCV001617352] | benign | 10 | 102599593 | 102599594 | Human | 3 | name |
| 150484572 | CV1222524 | single nucleotide variant | NM_016169.4(SUFU):c.1157+99G>A | not provided [RCV001617527] | benign | 10 | 102615501 | 102615501 | Human | | name |
| 150431092 | CV1235332 | single nucleotide variant | NM_016169.4(SUFU):c.183-300T>C | not provided [RCV001641702] | benign | 10 | 102508869 | 102508869 | Human | | name |
| 150473033 | CV1252340 | single nucleotide variant | NM_016169.4(SUFU):c.183-126G>C | not provided [RCV001671542] | benign | 10 | 102509043 | 102509043 | Human | | name |
| 150474645 | CV1263390 | single nucleotide variant | NM_016169.4(SUFU):c.911-337C>T | not provided [RCV001684913] | benign | 10 | 102599096 | 102599096 | Human | | name |
| 152038498 | CV1529806 | single nucleotide variant | NM_016169.4(SUFU):c.1296+14T>G | Gorlin syndrome [RCV002187893] | likely benign | 10 | 102617442 | 102617442 | Human | 2 | name |
| 152166202 | CV1532570 | single nucleotide variant | NM_016169.4(SUFU):c.1022+16T>C | Gorlin syndrome [RCV002204400] | likely benign | 10 | 102599560 | 102599560 | Human | 2 | name |
| 152079116 | CV1549917 | single nucleotide variant | NM_016169.4(SUFU):c.1365+13G>C | Gorlin syndrome [RCV002192802] | likely benign | 10 | 102627256 | 102627256 | Human | 2 | name |
| 152031371 | CV1561148 | single nucleotide variant | NM_016169.4(SUFU):c.1157+14C>A | Gorlin syndrome [RCV002106138] | likely benign | 10 | 102615416 | 102615416 | Human | 2 | name |
| 152139330 | CV1562797 | single nucleotide variant | NM_016169.4(SUFU):c.1158-18C>G | Gorlin syndrome [RCV002100550] | likely benign | 10 | 102617272 | 102617272 | Human | 2 | name |
| 152100902 | CV1568394 | deletion | NM_016169.4(SUFU):c.1022+20del | Gorlin syndrome [RCV002115329] | likely benign | 10 | 102599564 | 102599564 | Human | 2 | name |
| 152080620 | CV1589283 | single nucleotide variant | NM_016169.4(SUFU):c.1366-18T>C | Gorlin syndrome [RCV002112701] | likely benign | 10 | 102630048 | 102630048 | Human | 2 | name |
| 152092462 | CV1596143 | single nucleotide variant | NM_016169.4(SUFU):c.1297-13T>C | Gorlin syndrome [RCV002077894]|not provided [RCV003161337] | likely benign|uncertain significance | 10 | 102627162 | 102627162 | Human | 2 | name |
| 152166616 | CV1597077 | single nucleotide variant | NM_016169.4(SUFU):c.1158-15T>C | Gorlin syndrome [RCV002204484] | likely benign | 10 | 102617275 | 102617275 | Human | 2 | name |
| 152036464 | CV1605301 | single nucleotide variant | NM_016169.4(SUFU):c.1022+12A>G | Gorlin syndrome [RCV002087290] | likely benign | 10 | 102599556 | 102599556 | Human | 2 | name |
| 152079775 | CV1612592 | single nucleotide variant | NM_016169.4(SUFU):c.1297-16C>T | Gorlin syndrome [RCV002170388] | likely benign | 10 | 102627159 | 102627159 | Human | 2 | name |
| 152120986 | CV1613124 | single nucleotide variant | NM_016169.4(SUFU):c.1023-18C>A | Gorlin syndrome [RCV002154251] | likely benign | 10 | 102615250 | 102615250 | Human | 2 | name |
| 152041549 | CV1617902 | single nucleotide variant | NM_016169.4(SUFU):c.1157+17T>G | Gorlin syndrome [RCV002206409] | likely benign | 10 | 102615419 | 102615419 | Human | 2 | name |
| 152048076 | CV1620004 | single nucleotide variant | NM_016169.4(SUFU):c.1023-20T>C | Gorlin syndrome [RCV002207159] | likely benign | 10 | 102615248 | 102615248 | Human | 2 | name |
| 152131076 | CV1635318 | single nucleotide variant | NM_016169.4(SUFU):c.1158-11C>T | Gorlin syndrome [RCV002099493] | likely benign | 10 | 102617279 | 102617279 | Human | 2 | name |
| 152134234 | CV1646643 | single nucleotide variant | NM_016169.4(SUFU):c.1022+14T>C | Gorlin syndrome [RCV002137326] | likely benign | 10 | 102599558 | 102599558 | Human | 2 | name |
| 152043497 | CV1650875 | single nucleotide variant | NM_016169.4(SUFU):c.1157+14C>T | Gorlin syndrome [RCV002165997] | likely benign | 10 | 102615416 | 102615416 | Human | 2 | name |
| 152166615 | CV1661338 | single nucleotide variant | NM_016169.4(SUFU):c.1023-16T>C | Gorlin syndrome [RCV002124258] | likely benign | 10 | 102615252 | 102615252 | Human | 2 | name |
| 152078414 | CV1661342 | single nucleotide variant | NM_016169.4(SUFU):c.1023-18C>T | Gorlin syndrome [RCV002130529] | likely benign | 10 | 102615250 | 102615250 | Human | 2 | name |
| 153001076 | CV1684324 | single nucleotide variant | NM_016169.4(SUFU):c.1366-12C>G | Hereditary cancer-predisposing syndrome [RCV002255789] | likely benign | 10 | 102630054 | 102630054 | Human | 1 | name |
| 156308219 | CV1877933 | single nucleotide variant | NM_016169.4(SUFU):c.1366-17G>C | Gorlin syndrome [RCV003062299] | likely benign | 10 | 102630049 | 102630049 | Human | 2 | name |
| 156004655 | CV1906288 | single nucleotide variant | NM_016169.4(SUFU):c.1023-15G>A | Gorlin syndrome [RCV003098968] | likely benign | 10 | 102615253 | 102615253 | Human | 2 | name |
| 156345480 | CV1989071 | single nucleotide variant | NM_016169.4(SUFU):c.1157+11C>T | Gorlin syndrome [RCV002631657] | likely benign | 10 | 102615413 | 102615413 | Human | 2 | name |
| 156388339 | CV1995993 | single nucleotide variant | NM_016169.4(SUFU):c.1297-19C>G | Gorlin syndrome [RCV002654160] | likely benign | 10 | 102627156 | 102627156 | Human | 2 | name |
| 155950774 | CV2013973 | single nucleotide variant | NM_016169.4(SUFU):c.1023-12C>T | Gorlin syndrome [RCV002686009] | likely benign | 10 | 102615256 | 102615256 | Human | 2 | name |
| 156029910 | CV2022609 | single nucleotide variant | NM_016169.4(SUFU):c.1023-14T>C | Gorlin syndrome [RCV002735765] | likely benign | 10 | 102615254 | 102615254 | Human | 2 | name |
| 156254899 | CV2025897 | single nucleotide variant | NM_016169.4(SUFU):c.1366-13G>C | Gorlin syndrome [RCV002746115] | likely benign | 10 | 102630053 | 102630053 | Human | 2 | name |
| 155950437 | CV2133117 | single nucleotide variant | NM_016169.4(SUFU):c.1158-13T>G | Gorlin syndrome [RCV002994596] | likely benign | 10 | 102617277 | 102617277 | Human | 2 | name |
| 156093921 | CV2135686 | single nucleotide variant | NM_016169.4(SUFU):c.1158-13T>A | Gorlin syndrome [RCV003001938] | likely benign | 10 | 102617277 | 102617277 | Human | 2 | name |
| 156097282 | CV2135877 | single nucleotide variant | NM_016169.4(SUFU):c.1022+10C>T | Gorlin syndrome [RCV002979842] | likely benign | 10 | 102599554 | 102599554 | Human | 2 | name |
| 156026556 | CV2139211 | single nucleotide variant | NM_016169.4(SUFU):c.1296+18C>A | Gorlin syndrome [RCV002998949] | likely benign | 10 | 102617446 | 102617446 | Human | 2 | name |
| 156324405 | CV2173800 | single nucleotide variant | NM_016169.4(SUFU):c.1297-12G>A | Gorlin syndrome [RCV003046835] | likely benign | 10 | 102627163 | 102627163 | Human | 2 | name |
| 11550407 | CV253670 | single nucleotide variant | NM_016169.4(SUFU):c.1365+19T>C | Familial meningioma [RCV003316435]|Gorlin syndrome [RCV001815265]|Gorlin syndrome [RCV002055052]|Joubert syndrome 32 [RCV001815266]|not provided [RCV000586015]|not specified [RCV000251718] | benign | 10 | 102627262 | 102627262 | Human | 4 | name |
| 405024975 | CV3082050 | single nucleotide variant | NM_016169.4(SUFU):c.1022+15G>A | Gorlin syndrome [RCV003785656] | likely benign | 10 | 102599559 | 102599559 | Human | 2 | name |
| 402492463 | CV3082149 | single nucleotide variant | NM_016169.4(SUFU):c.1023-19T>C | Gorlin syndrome [RCV003787709] | likely benign | 10 | 102615249 | 102615249 | Human | 2 | name |
| 402509474 | CV3086964 | single nucleotide variant | NM_016169.4(SUFU):c.1365+13G>A | Gorlin syndrome [RCV003789474] | likely benign | 10 | 102627256 | 102627256 | Human | 2 | name |
| 404995811 | CV3088459 | duplication | NM_016169.4(SUFU):c.1296+18dup | Gorlin syndrome [RCV003793236] | likely benign | 10 | 102617445 | 102617446 | Human | 2 | name |
| 402501682 | CV3093376 | single nucleotide variant | NM_016169.4(SUFU):c.1297-15C>T | Gorlin syndrome [RCV003788682] | likely benign | 10 | 102627160 | 102627160 | Human | 2 | name |
| 405153215 | CV3101990 | single nucleotide variant | NM_016169.4(SUFU):c.1022+12A>C | Gorlin syndrome [RCV003801594] | likely benign | 10 | 102599556 | 102599556 | Human | 2 | name |
| 404977443 | CV3102688 | single nucleotide variant | NM_016169.4(SUFU):c.1296+10C>T | Gorlin syndrome [RCV003790782] | uncertain significance | 10 | 102617438 | 102617438 | Human | 2 | name |
| 405014323 | CV3106620 | single nucleotide variant | NM_016169.4(SUFU):c.1023-18C>G | Gorlin syndrome [RCV003794957] | likely benign | 10 | 102615250 | 102615250 | Human | 2 | name |
| 405110680 | CV3110661 | single nucleotide variant | NM_016169.4(SUFU):c.1366-15T>A | Gorlin syndrome [RCV003813564] | likely benign | 10 | 102630051 | 102630051 | Human | 2 | name |
| 405011346 | CV3113910 | deletion | NM_016169.4(SUFU):c.1157+13del | Gorlin syndrome [RCV003804932] | likely benign | 10 | 102615415 | 102615415 | Human | 2 | name |
| 596946951 | CV3547009 | single nucleotide variant | NM_016169.4(SUFU):c.1296+74C>T | not provided [RCV004810815] | likely benign | 10 | 102617502 | 102617502 | Human | | name |
| 597835508 | CV3864499 | single nucleotide variant | NM_016169.4(SUFU):c.1296+18C>T | Gorlin syndrome [RCV005210135] | likely benign | 10 | 102617446 | 102617446 | Human | 2 | name |
| 597920104 | CV3865423 | single nucleotide variant | NM_016169.4(SUFU):c.1366-12C>T | Gorlin syndrome [RCV005223367] | likely benign | 10 | 102630054 | 102630054 | Human | 2 | name |
| 597882305 | CV3865869 | single nucleotide variant | NM_016169.4(SUFU):c.1297-20C>A | Gorlin syndrome [RCV005217534] | likely benign | 10 | 102627155 | 102627155 | Human | 2 | name |
| 597921906 | CV3867222 | single nucleotide variant | NM_016169.4(SUFU):c.1158-13T>C | Gorlin syndrome [RCV005223648] | likely benign | 10 | 102617277 | 102617277 | Human | 2 | name |
| 597895140 | CV3868742 | single nucleotide variant | NM_016169.4(SUFU):c.1296+14T>A | Gorlin syndrome [RCV005219448] | likely benign | 10 | 102617442 | 102617442 | Human | 2 | name |
| 597926814 | CV3874038 | single nucleotide variant | NM_016169.4(SUFU):c.1366-10C>A | Gorlin syndrome [RCV005224309] | likely benign | 10 | 102630056 | 102630056 | Human | 2 | name |
| 597836568 | CV3875584 | single nucleotide variant | NM_016169.4(SUFU):c.1365+14A>G | Gorlin syndrome [RCV005225629] | likely benign | 10 | 102627257 | 102627257 | Human | 2 | name |
| 597924216 | CV3877259 | single nucleotide variant | NM_016169.4(SUFU):c.1296+10C>A | Gorlin syndrome [RCV005223955] | likely benign | 10 | 102617438 | 102617438 | Human | 2 | name |
| 597912394 | CV3879676 | single nucleotide variant | NM_016169.4(SUFU):c.1157+16C>G | Gorlin syndrome [RCV005222077] | likely benign | 10 | 102615418 | 102615418 | Human | 2 | name |
| 598124209 | CV3881372 | single nucleotide variant | NM_016169.4(SUFU):c.1022+38C>T | not specified [RCV005231797] | likely benign | 10 | 102599582 | 102599582 | Human | | name |
| 598124210 | CV3881373 | single nucleotide variant | NM_016169.4(SUFU):c.1023-28C>T | not specified [RCV005231798] | likely benign | 10 | 102615240 | 102615240 | Human | | name |
| 598124212 | CV3881375 | single nucleotide variant | NM_016169.4(SUFU):c.1157+23A>G | not specified [RCV005231800] | likely benign | 10 | 102615425 | 102615425 | Human | | name |
| 12892146 | CV397369 | single nucleotide variant | NM_016169.4(SUFU):c.1158-10C>T | Gorlin syndrome [RCV000457832]|not provided [RCV002481491] | likely benign|uncertain significance | 10 | 102617280 | 102617280 | Human | 2 | name |
| 14732489 | CV664499 | single nucleotide variant | NM_016169.4(SUFU):c.182+189C>T | not provided [RCV000836611] | benign | 10 | 102504523 | 102504523 | Human | | name |
| 14732493 | CV664507 | single nucleotide variant | NM_016169.4(SUFU):c.317+157G>A | not provided [RCV000836613] | benign | 10 | 102509460 | 102509460 | Human | | name |
| 14732496 | CV664511 | single nucleotide variant | NM_016169.4(SUFU):c.317+241G>A | not provided [RCV000836614] | benign | 10 | 102509544 | 102509544 | Human | | name |
| 14737658 | CV664800 | single nucleotide variant | NM_016169.4(SUFU):c.455-143C>T | not provided [RCV000839017] | likely benign | 10 | 102592439 | 102592439 | Human | | name |
| 150426667 | CV1187541 | single nucleotide variant | NM_016169.4(SUFU):c.1296+177C>T | not provided [RCV001559869] | likely benign | 10 | 102617605 | 102617605 | Human | | name |
| 150407137 | CV1191025 | single nucleotide variant | NM_016169.4(SUFU):c.1157+246T>G | not provided [RCV001564925] | likely benign | 10 | 102615648 | 102615648 | Human | | name |
| 150494378 | CV1282620 | single nucleotide variant | NM_016169.4(SUFU):c.1158-101C>T | not provided [RCV001717195] | benign | 10 | 102617189 | 102617189 | Human | | name |
| 14732500 | CV663998 | single nucleotide variant | NM_016169.4(SUFU):c.1023-210G>C | not provided [RCV000836616] | benign | 10 | 102615058 | 102615058 | Human | | name |
| 14733917 | CV664806 | single nucleotide variant | NM_016169.4(SUFU):c.1365+103G>T | not provided [RCV000837316] | likely benign | 10 | 102627346 | 102627346 | Human | | name |
| 150331428 | CV1163532 | single nucleotide variant | NM_016169.4(SUFU):c.1296+1565G>A | not provided [RCV001527797] | benign | 10 | 102618993 | 102618993 | Human | 1 | name |
| 150331428 | CV1163532 | single nucleotide variant | NM_016169.4(SUFU):c.1296+1565G>A | not provided [RCV001527797] | benign | 10 | 102618993 | 102618994 | Human | 1 | name |
| 150413172 | CV1177246 | single nucleotide variant | NM_016169.4(SUFU):c.1296+1355C>T | not provided [RCV001547714] | likely benign | 10 | 102618783 | 102618783 | Human | | name |
| 150422075 | CV1180636 | single nucleotide variant | NM_016169.4(SUFU):c.1296+1793C>T | not provided [RCV001552322] | likely benign | 10 | 102619221 | 102619221 | Human | | name |
| 150416836 | CV1194292 | single nucleotide variant | NM_016169.4(SUFU):c.1296+1423G>A | not provided [RCV001568513] | likely benign | 10 | 102618851 | 102618851 | Human | | name |
| 150420735 | CV1197990 | single nucleotide variant | NM_016169.4(SUFU):c.1296+1824C>T | not provided [RCV001577739] | likely benign | 10 | 102619252 | 102619252 | Human | | name |
| 150452348 | CV1220988 | single nucleotide variant | NM_016169.4(SUFU):c.1296+1378G>T | not provided [RCV001612082] | benign | 10 | 102618806 | 102618806 | Human | | name |
| 156440800 | CV1940526 | microsatellite | NM_016169.4(SUFU):c.1157+20CA[4] | Gorlin syndrome [RCV003110841] | likely benign | 10 | 102615421 | 102615422 | Human | | name |
| 405015642 | CV3114377 | deletion | NM_016169.4(SUFU):c.183-4_247del | Gorlin syndrome [RCV003805231] | likely pathogenic | 10 | 102509165 | 102509233 | Human | 2 | name |
| 21071989 | CV790938 | single nucleotide variant | NM_016169.4(SUFU):c.1296+1638C>T | Gorlin syndrome [RCV000988448] | uncertain significance | 10 | 102619066 | 102619066 | Human | 1 | name |
| 34891641 | CV906284 | single nucleotide variant | NM_016169.4(SUFU):c.1296+1635C>A | Gorlin syndrome [RCV001175210] | likely pathogenic | 10 | 102619063 | 102619063 | Human | 1 | name |
| 38495231 | CV960711 | duplication | NM_016169.4(SUFU):c.753_756+2dup | Gorlin syndrome [RCV001241813] | uncertain significance | 10 | 102594060 | 102594061 | Human | 2 | name |
| 329386122 | CV2433591 | deletion | NM_016169.4(SUFU):c.739_756+12del | Hereditary cancer-predisposing syndrome [RCV003177383] | likely pathogenic | 10 | 102594043 | 102594072 | Human | 1 | name |
| 151784100 | CV1491980 | microsatellite | NM_016169.4(SUFU):c.454+6_454+8del | Gorlin syndrome [RCV002026542] | uncertain significance | 10 | 102550109 | 102550111 | Human | | name |
| 156168563 | CV1993534 | deletion | NM_016169.4(SUFU):c.454+4_454+5del | Gorlin syndrome [RCV002642651] | uncertain significance | 10 | 102550110 | 102550111 | Human | 2 | name |
| 11347038 | CV240721 | single nucleotide variant | NM_016169.4(SUFU):c.6G>T (p.Ala2=) | Gorlin syndrome [RCV000230739]|Hereditary cancer-predisposing syndrome [RCV000562975]|Medulloblastoma [RCV001106673]|not provided [RCV003422152]|not specified [RCV000609084] | benign|likely benign|uncertain significance | 10 | 102504158 | 102504158 | Human | 4 | name |
| 405168442 | CV3104119 | microsatellite | NM_016169.4(SUFU):c.454+20TGCTG[3] | Gorlin syndrome [RCV003802796] | likely benign | 10 | 102550125 | 102550126 | Human | | name |
| 11645392 | CV320446 | deletion | NM_016169.4(SUFU):c.*3239_*3241del | Medulloblastoma [RCV000265384] | uncertain significance | 10 | 102633392 | 102633394 | Human | 2 | name |
| 13477731 | CV460470 | single nucleotide variant | NM_016169.4(SUFU):c.9G>A (p.Glu3=) | Gorlin syndrome [RCV000549742]|Hereditary cancer-predisposing syndrome [RCV001019974] | likely benign | 10 | 102504161 | 102504161 | Human | 3 | name |
| 13534873 | CV503550 | single nucleotide variant | NM_016169.4(SUFU):c.6G>A (p.Ala2=) | Gorlin syndrome [RCV001037412]|Hereditary cancer-predisposing syndrome [RCV002377298]|not specified [RCV000607466] | likely benign|uncertain significance | 10 | 102504158 | 102504158 | Human | 3 | name |
| 127282003 | CV1098516 | single nucleotide variant | NM_016169.4(SUFU):c.15G>A (p.Arg5=) | Gorlin syndrome [RCV001447561]|Hereditary cancer-predisposing syndrome [RCV002405056] | likely benign | 10 | 102504167 | 102504167 | Human | 3 | name |
| 127291328 | CV1120105 | single nucleotide variant | NM_016169.4(SUFU):c.27C>A (p.Ala9=) | Gorlin syndrome [RCV001458686]|Hereditary cancer-predisposing syndrome [RCV002256783] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 10 | 102504179 | 102504179 | Human | 3 | name |
| 155733675 | CV1842681 | single nucleotide variant | NM_016169.4(SUFU):c.18T>G (p.Pro6=) | Hereditary cancer-predisposing syndrome [RCV002408252] | likely benign | 10 | 102504170 | 102504170 | Human | 1 | name |
| 11345674 | CV240722 | single nucleotide variant | NM_016169.4(SUFU):c.12G>A (p.Leu4=) | Gorlin syndrome [RCV000225937]|Hereditary cancer-predisposing syndrome [RCV000563973]|Medulloblastoma [RCV000307678]|Medulloblastoma [RCV005396812]|not provided [RCV001548626]|not specified [RCV000781897] | benign|likely benign|uncertain significance | 10 | 102504164 | 102504164 | Human | 4 | name |
| 401859670 | CV2757107 | single nucleotide variant | NM_016169.4(SUFU):c.27C>T (p.Ala9=) | Gorlin syndrome [RCV005209616]|Hereditary cancer-predisposing syndrome [RCV003341960] | likely benign | 10 | 102504179 | 102504179 | Human | 3 | name |
| 405708095 | CV3384310 | single nucleotide variant | NM_016169.4(SUFU):c.18T>C (p.Pro6=) | Hereditary cancer-predisposing syndrome [RCV004522040] | likely benign | 10 | 102504170 | 102504170 | Human | 1 | name |
| 405708119 | CV3384313 | single nucleotide variant | NM_016169.4(SUFU):c.24C>T (p.Gly8=) | Hereditary cancer-predisposing syndrome [RCV004522043] | likely benign | 10 | 102504176 | 102504176 | Human | 1 | name |
| 597844310 | CV3878753 | single nucleotide variant | NM_016169.4(SUFU):c.21C>T (p.Ser7=) | Gorlin syndrome [RCV005227083] | likely benign | 10 | 102504173 | 102504173 | Human | 2 | name |
| 12888341 | CV397089 | deletion | NM_016169.4(SUFU):c.757-11_757-7del | Gorlin syndrome [RCV000470693]|not provided [RCV005365310] | likely benign|uncertain significance | 10 | 102597126 | 102597130 | Human | 2 | name |
| 127242008 | CV1076872 | single nucleotide variant | NM_016169.4(SUFU):c.66C>A (p.Ala22=) | Gorlin syndrome [RCV001415898] | likely benign | 10 | 102504218 | 102504218 | Human | 2 | name |
| 127250836 | CV1076873 | single nucleotide variant | NM_016169.4(SUFU):c.87C>T (p.Leu29=) | Gorlin syndrome [RCV001417661]|Hereditary cancer-predisposing syndrome [RCV002377656] | likely benign | 10 | 102504239 | 102504239 | Human | 3 | name |
| 127246504 | CV1098517 | single nucleotide variant | NM_016169.4(SUFU):c.30C>T (p.Pro10=) | Gorlin syndrome [RCV001435425]|Hereditary cancer-predisposing syndrome [RCV004671396] | likely benign | 10 | 102504182 | 102504182 | Human | 3 | name |
| 127260553 | CV1098518 | single nucleotide variant | NM_016169.4(SUFU):c.45C>T (p.Pro15=) | Gorlin syndrome [RCV001427876]|Hereditary cancer-predisposing syndrome [RCV002341927]|not provided [RCV004770151] | likely benign|uncertain significance | 10 | 102504197 | 102504197 | Human | 3 | name |
| 127265406 | CV1098519 | single nucleotide variant | NM_016169.4(SUFU):c.54T>C (p.Pro18=) | Gorlin syndrome [RCV001429057]|Hereditary cancer-predisposing syndrome [RCV002350840] | likely benign | 10 | 102504206 | 102504206 | Human | 3 | name |
| 127331147 | CV1120106 | single nucleotide variant | NM_016169.4(SUFU):c.84G>C (p.Ser28=) | Gorlin syndrome [RCV001471353]|Hereditary cancer-predisposing syndrome [RCV002414131] | likely benign | 10 | 102504236 | 102504236 | Human | 3 | name |
| 127320362 | CV1140942 | single nucleotide variant | NM_016169.4(SUFU):c.66C>T (p.Ala22=) | Gorlin syndrome [RCV001484158]|Hereditary cancer-predisposing syndrome [RCV002368486] | likely benign | 10 | 102504218 | 102504218 | Human | 3 | name |
| 152086038 | CV1531653 | duplication | NM_016169.4(SUFU):c.454+13_454+14dup | Gorlin syndrome [RCV002076995] | likely benign | 10 | 102550117 | 102550118 | Human | 2 | name |
| 152064095 | CV1554574 | single nucleotide variant | NM_016169.4(SUFU):c.63T>C (p.Thr21=) | Gorlin syndrome [RCV002190903] | likely benign | 10 | 102504215 | 102504215 | Human | 2 | name |
| 152073789 | CV1556711 | deletion | NM_016169.4(SUFU):c.183-20_183-19del | Gorlin syndrome [RCV002111820] | likely benign | 10 | 102509149 | 102509150 | Human | 2 | name |
| 152116556 | CV1569647 | single nucleotide variant | NM_016169.4(SUFU):c.42G>A (p.Ala14=) | Gorlin syndrome [RCV002117270] | likely benign | 10 | 102504194 | 102504194 | Human | 2 | name |
| 152080266 | CV1623056 | single nucleotide variant | NM_016169.4(SUFU):c.48G>T (p.Pro16=) | Gorlin syndrome [RCV002170444]|Hereditary cancer-predisposing syndrome [RCV002337197] | likely benign | 10 | 102504200 | 102504200 | Human | 3 | name |
| 152135546 | CV1638584 | single nucleotide variant | NM_016169.4(SUFU):c.36C>G (p.Pro12=) | Gorlin syndrome [RCV002083454] | likely benign | 10 | 102504188 | 102504188 | Human | 2 | name |
| 152147490 | CV1653679 | single nucleotide variant | NM_016169.4(SUFU):c.33C>T (p.Gly11=) | Gorlin syndrome [RCV002139019] | likely benign | 10 | 102504185 | 102504185 | Human | 2 | name |
| 152126087 | CV1665877 | single nucleotide variant | NM_016169.4(SUFU):c.78C>T (p.Phe26=) | Gorlin syndrome [RCV002198690] | likely benign | 10 | 102504230 | 102504230 | Human | 2 | name |
| 155696906 | CV1793905 | single nucleotide variant | NM_016169.4(SUFU):c.39C>T (p.Thr13=) | Hereditary cancer-predisposing syndrome [RCV002375631] | likely benign | 10 | 102504191 | 102504191 | Human | 1 | name |
| 155738462 | CV1797914 | single nucleotide variant | NM_016169.4(SUFU):c.42G>C (p.Ala14=) | Hereditary cancer-predisposing syndrome [RCV002331882] | likely benign | 10 | 102504194 | 102504194 | Human | 1 | name |
| 155734415 | CV1798869 | single nucleotide variant | NM_016169.4(SUFU):c.48G>C (p.Pro16=) | Gorlin syndrome [RCV003775993]|Hereditary cancer-predisposing syndrome [RCV002340638]|SUFU-related disorder [RCV004548279] | benign|likely benign | 10 | 102504200 | 102504200 | Human | 4 | name , alternate_id |
| 155738669 | CV1805225 | single nucleotide variant | NM_016169.4(SUFU):c.45C>A (p.Pro15=) | Gorlin syndrome [RCV003775925]|Hereditary cancer-predisposing syndrome [RCV002342349] | likely benign | 10 | 102504197 | 102504197 | Human | 3 | name |
| 155674550 | CV1810159 | single nucleotide variant | NM_016169.4(SUFU):c.54T>A (p.Pro18=) | Hereditary cancer-predisposing syndrome [RCV002351660] | likely benign | 10 | 102504206 | 102504206 | Human | 1 | name |
| 155704256 | CV1810655 | single nucleotide variant | NM_016169.4(SUFU):c.57C>A (p.Gly19=) | Hereditary cancer-predisposing syndrome [RCV002359844] | likely benign | 10 | 102504209 | 102504209 | Human | 1 | name |
| 155705516 | CV1811231 | single nucleotide variant | NM_016169.4(SUFU):c.60G>A (p.Pro20=) | Hereditary cancer-predisposing syndrome [RCV002360158] | likely benign | 10 | 102504212 | 102504212 | Human | 1 | name |
| 155705539 | CV1811238 | single nucleotide variant | NM_016169.4(SUFU):c.60G>C (p.Pro20=) | Gorlin syndrome [RCV005215839]|Hereditary cancer-predisposing syndrome [RCV002360165]|not provided [RCV003426397] | likely benign | 10 | 102504212 | 102504212 | Human | 3 | name |
| 155710445 | CV1811662 | single nucleotide variant | NM_016169.4(SUFU):c.63T>G (p.Thr21=) | Hereditary cancer-predisposing syndrome [RCV002361581] | likely benign | 10 | 102504215 | 102504215 | Human | 1 | name |
| 155698088 | CV1816835 | single nucleotide variant | NM_016169.4(SUFU):c.81T>C (p.Ala27=) | Hereditary cancer-predisposing syndrome [RCV002427932] | likely benign | 10 | 102504233 | 102504233 | Human | 1 | name |
| 155698117 | CV1816840 | single nucleotide variant | NM_016169.4(SUFU):c.81T>G (p.Ala27=) | Gorlin syndrome [RCV003776487]|Hereditary cancer-predisposing syndrome [RCV002427937] | likely benign | 10 | 102504233 | 102504233 | Human | 3 | name |
| 155726987 | CV1822369 | single nucleotide variant | NM_016169.4(SUFU):c.69C>G (p.Pro23=) | Gorlin syndrome [RCV003776332]|Hereditary cancer-predisposing syndrome [RCV002364739] | likely benign | 10 | 102504221 | 102504221 | Human | 3 | name |
| 155729028 | CV1822720 | single nucleotide variant | NM_016169.4(SUFU):c.72G>C (p.Pro24=) | Hereditary cancer-predisposing syndrome [RCV002382778] | likely benign | 10 | 102504224 | 102504224 | Human | 1 | name |
| 155949251 | CV2123373 | single nucleotide variant | NM_016169.4(SUFU):c.66C>G (p.Ala22=) | Gorlin syndrome [RCV002971765]|Hereditary cancer-predisposing syndrome [RCV003170761]|SUFU-related disorder [RCV004550323] | likely benign | 10 | 102504218 | 102504218 | Human | 4 | name , alternate_id |
| 156375015 | CV2190932 | deletion | NM_016169.4(SUFU):c.318-22_318-19del | Gorlin syndrome [RCV003050028] | likely benign | 10 | 102549948 | 102549951 | Human | 2 | name |
| 401778472 | CV2732532 | single nucleotide variant | NM_016169.4(SUFU):c.2T>A (p.Met1Lys) | Hereditary cancer-predisposing syndrome [RCV003306784] | likely pathogenic|uncertain significance | 10 | 102504154 | 102504154 | Human | 1 | name |
| 401778482 | CV2732543 | single nucleotide variant | NM_016169.4(SUFU):c.36C>T (p.Pro12=) | Gorlin syndrome [RCV003777238]|Hereditary cancer-predisposing syndrome [RCV003306789] | likely benign | 10 | 102504188 | 102504188 | Human | 3 | name |
| 401899399 | CV2790332 | single nucleotide variant | NM_016169.4(SUFU):c.51C>T (p.Ala17=) | Gorlin syndrome [RCV005216075]|Hereditary cancer-predisposing syndrome [RCV003377586] | likely benign | 10 | 102504203 | 102504203 | Human | 3 | name |
| 405033569 | CV3098744 | duplication | NM_016169.4(SUFU):c.683+21_683+24dup | Gorlin syndrome [RCV003806870] | likely benign | 10 | 102593740 | 102593741 | Human | 2 | name |
| 405708215 | CV3384326 | single nucleotide variant | NM_016169.4(SUFU):c.57C>T (p.Gly19=) | Hereditary cancer-predisposing syndrome [RCV004522056] | likely benign | 10 | 102504209 | 102504209 | Human | 1 | name |
| 597735627 | CV3721364 | single nucleotide variant | NM_016169.4(SUFU):c.9G>C (p.Glu3Asp) | Hereditary cancer-predisposing syndrome [RCV005291138]|Medulloblastoma [RCV005037486] | uncertain significance | 10 | 102504161 | 102504161 | Human | 3 | name |
| 597841924 | CV3864954 | single nucleotide variant | NM_016169.4(SUFU):c.51C>G (p.Ala17=) | Gorlin syndrome [RCV005211402] | likely benign | 10 | 102504203 | 102504203 | Human | 2 | name |
| 597882083 | CV3865811 | single nucleotide variant | NM_016169.4(SUFU):c.5C>G (p.Ala2Gly) | Gorlin syndrome [RCV005217476] | uncertain significance | 10 | 102504157 | 102504157 | Human | 2 | name |
| 597867869 | CV3869360 | deletion | NM_016169.4(SUFU):c.1366-7_1366-5del | Gorlin syndrome [RCV005215290] | likely benign | 10 | 102630057 | 102630059 | Human | 2 | name |
| 597903427 | CV3873207 | single nucleotide variant | NM_016169.4(SUFU):c.30C>A (p.Pro10=) | Gorlin syndrome [RCV005220645] | likely benign | 10 | 102504182 | 102504182 | Human | 2 | name |
| 597840331 | CV3873498 | deletion | NM_016169.4(SUFU):c.756+20_756+21del | Gorlin syndrome [RCV005226325] | likely benign | 10 | 102594083 | 102594084 | Human | 2 | name |
| 597859974 | CV3874708 | single nucleotide variant | NM_016169.4(SUFU):c.2T>C (p.Met1Thr) | Gorlin syndrome [RCV005214049] | uncertain significance | 10 | 102504154 | 102504154 | Human | 2 | name |
| 598221208 | CV3916250 | single nucleotide variant | NM_016169.4(SUFU):c.39C>G (p.Thr13=) | Hereditary cancer-predisposing syndrome [RCV005293593] | likely benign | 10 | 102504191 | 102504191 | Human | 1 | name |
| 13490991 | CV459605 | single nucleotide variant | NM_016169.4(SUFU):c.96G>C (p.Pro32=) | Gorlin syndrome [RCV000556388]|Hereditary cancer-predisposing syndrome [RCV001019656]|not provided [RCV004808745] | likely benign | 10 | 102504248 | 102504248 | Human | 3 | name |
| 13471376 | CV460471 | single nucleotide variant | NM_016169.4(SUFU):c.84G>T (p.Ser28=) | Gorlin syndrome [RCV000544818]|Hereditary cancer-predisposing syndrome [RCV000563739] | likely benign | 10 | 102504236 | 102504236 | Human | 3 | name |
| 13820364 | CV566122 | single nucleotide variant | NM_016169.4(SUFU):c.8A>G (p.Glu3Gly) | Gorlin syndrome [RCV000694830] | uncertain significance | 10 | 102504160 | 102504160 | Human | 2 | name |
| 14745248 | CV638673 | single nucleotide variant | NM_016169.4(SUFU):c.5C>T (p.Ala2Val) | Gorlin syndrome [RCV000824588] | uncertain significance | 10 | 102504157 | 102504157 | Human | 2 | name |
| 15116706 | CV684126 | single nucleotide variant | NM_016169.4(SUFU):c.90T>C (p.Phe30=) | Gorlin syndrome [RCV000860993]|Hereditary cancer-predisposing syndrome [RCV002372391] | likely benign | 10 | 102504242 | 102504242 | Human | 3 | name |
| 15147542 | CV737310 | single nucleotide variant | NM_016169.4(SUFU):c.60G>T (p.Pro20=) | Gorlin syndrome [RCV001429610]|Hereditary cancer-predisposing syndrome [RCV002354731] | likely benign | 10 | 102504212 | 102504212 | Human | 3 | name |
| 15147547 | CV737311 | single nucleotide variant | NM_016169.4(SUFU):c.69C>T (p.Pro23=) | Gorlin syndrome [RCV000900542]|Hereditary cancer-predisposing syndrome [RCV002363348] | likely benign | 10 | 102504221 | 102504221 | Human | 3 | name |
| 26915817 | CV836565 | single nucleotide variant | NM_016169.4(SUFU):c.72G>A (p.Pro24=) | Gorlin syndrome [RCV001041572]|Hereditary cancer-predisposing syndrome [RCV002379503] | likely benign|uncertain significance | 10 | 102504224 | 102504224 | Human | 3 | name |
| 38488309 | CV934928 | single nucleotide variant | NM_016169.4(SUFU):c.96G>A (p.Pro32=) | Gorlin syndrome [RCV001209691]|Hereditary cancer-predisposing syndrome [RCV002375152] | likely benign|uncertain significance | 10 | 102504248 | 102504248 | Human | 3 | name |
| 126740491 | CV1008846 | single nucleotide variant | NM_016169.4(SUFU):c.16C>T (p.Pro6Ser) | Familial meningioma [RCV004570789]|Gorlin syndrome [RCV001325209]|Hereditary cancer-predisposing syndrome [RCV002412042] | uncertain significance | 10 | 102504168 | 102504168 | Human | 4 | name |
| 126920869 | CV1046398 | single nucleotide variant | NM_016169.4(SUFU):c.17C>G (p.Pro6Arg) | Gorlin syndrome [RCV001363131] | uncertain significance | 10 | 102504169 | 102504169 | Human | 2 | name |
| 127253101 | CV1076874 | single nucleotide variant | NM_016169.4(SUFU):c.255C>G (p.Pro85=) | Gorlin syndrome [RCV001418211] | likely benign | 10 | 102509241 | 102509241 | Human | 2 | name |
| 127296663 | CV1120107 | single nucleotide variant | NM_016169.4(SUFU):c.270C>T (p.Tyr90=) | Gorlin syndrome [RCV001452792]|Hereditary cancer-predisposing syndrome [RCV004951780] | likely benign | 10 | 102509256 | 102509256 | Human | 3 | name |
| 127301397 | CV1140943 | single nucleotide variant | NM_016169.4(SUFU):c.129C>T (p.Arg43=) | Gorlin syndrome [RCV001478685]|Hereditary cancer-predisposing syndrome [RCV002384776]|not provided [RCV003426138] | likely benign | 10 | 102504281 | 102504281 | Human | 3 | name |
| 127302875 | CV1140944 | single nucleotide variant | NM_016169.4(SUFU):c.171C>T (p.Ile57=) | Gorlin syndrome [RCV001499206]|Hereditary cancer-predisposing syndrome [RCV004946690] | likely benign | 10 | 102504323 | 102504323 | Human | 3 | name |
| 127323772 | CV1140945 | single nucleotide variant | NM_016169.4(SUFU):c.258G>A (p.Glu86=) | Gorlin syndrome [RCV001485317]|Hereditary cancer-predisposing syndrome [RCV003160960]|not provided [RCV003992527] | likely benign | 10 | 102509244 | 102509244 | Human | 3 | name |
| 151772133 | CV1417908 | single nucleotide variant | NM_016169.4(SUFU):c.19A>G (p.Ser7Gly) | Gorlin syndrome [RCV001874556] | uncertain significance | 10 | 102504171 | 102504171 | Human | 2 | name |
| 151879587 | CV1490886 | deletion | NM_016169.4(SUFU):c.53del (p.Pro18fs) | Gorlin syndrome [RCV001940824] | pathogenic | 10 | 102504202 | 102504202 | Human | 2 | name |
| 151765180 | CV1491147 | duplication | NM_016169.4(SUFU):c.73dup (p.Ala25fs) | Gorlin syndrome [RCV001949599] | pathogenic | 10 | 102504223 | 102504224 | Human | 2 | name |
| 151796593 | CV1499651 | single nucleotide variant | NM_016169.4(SUFU):c.21C>A (p.Ser7Arg) | Gorlin syndrome [RCV001917319]|Hereditary cancer-predisposing syndrome [RCV002425170] | uncertain significance | 10 | 102504173 | 102504173 | Human | 3 | name |
| 152174438 | CV1567104 | single nucleotide variant | NM_016169.4(SUFU):c.192C>T (p.Gly64=) | Gorlin syndrome [RCV002163158] | likely benign | 10 | 102509178 | 102509178 | Human | 2 | name |
| 152104413 | CV1574780 | single nucleotide variant | NM_016169.4(SUFU):c.207C>T (p.Asp69=) | Gorlin syndrome [RCV002095957] | likely benign | 10 | 102509193 | 102509193 | Human | 2 | name |
| 152096270 | CV1586853 | single nucleotide variant | NM_016169.4(SUFU):c.189T>C (p.Gly63=) | Gorlin syndrome [RCV002078392]|Hereditary cancer-predisposing syndrome [RCV004045715] | likely benign | 10 | 102509175 | 102509175 | Human | 3 | name |
| 152063321 | CV1587768 | single nucleotide variant | NM_016169.4(SUFU):c.129C>G (p.Arg43=) | Gorlin syndrome [RCV002090529]|Hereditary cancer-predisposing syndrome [RCV004681435] | likely benign | 10 | 102504281 | 102504281 | Human | 3 | name |
| 152056187 | CV1588161 | single nucleotide variant | NM_016169.4(SUFU):c.240T>G (p.Pro80=) | Gorlin syndrome [RCV002189990] | likely benign | 10 | 102509226 | 102509226 | Human | 2 | name |
| 152056761 | CV1647296 | single nucleotide variant | NM_016169.4(SUFU):c.285G>A (p.Leu95=) | Gorlin syndrome [RCV002208190]|Hereditary cancer-predisposing syndrome [RCV005288738] | likely benign | 10 | 102509271 | 102509271 | Human | 3 | name |
| 152144734 | CV1658196 | single nucleotide variant | NM_016169.4(SUFU):c.285G>T (p.Leu95=) | Gorlin syndrome [RCV002219861] | likely benign | 10 | 102509271 | 102509271 | Human | 2 | name |
| 155666951 | CV1793245 | single nucleotide variant | NM_016169.4(SUFU):c.114C>T (p.Tyr38=) | Hereditary cancer-predisposing syndrome [RCV002452504] | likely benign | 10 | 102504266 | 102504266 | Human | 1 | name |
| 155745745 | CV1802977 | single nucleotide variant | NM_016169.4(SUFU):c.11T>G (p.Leu4Arg) | Gorlin syndrome [RCV003776100]|Hereditary cancer-predisposing syndrome [RCV002347186]|not specified [RCV005232959] | uncertain significance | 10 | 102504163 | 102504163 | Human | 3 | name |
| 155732964 | CV1826539 | single nucleotide variant | NM_016169.4(SUFU):c.102G>A (p.Leu34=) | Hereditary cancer-predisposing syndrome [RCV002383496] | likely benign | 10 | 102504254 | 102504254 | Human | 1 | name |
| 155712036 | CV1827939 | single nucleotide variant | NM_016169.4(SUFU):c.165C>G (p.Thr55=) | Hereditary cancer-predisposing syndrome [RCV002403793] | likely benign | 10 | 102504317 | 102504317 | Human | 1 | name |
| 155671379 | CV1829230 | single nucleotide variant | NM_016169.4(SUFU):c.132T>G (p.Leu44=) | Hereditary cancer-predisposing syndrome [RCV002385908] | likely benign | 10 | 102504284 | 102504284 | Human | 1 | name |
| 155709788 | CV1832717 | single nucleotide variant | NM_016169.4(SUFU):c.138T>A (p.Pro46=) | Hereditary cancer-predisposing syndrome [RCV002396655] | likely benign | 10 | 102504290 | 102504290 | Human | 1 | name |
| 155709841 | CV1832724 | single nucleotide variant | NM_016169.4(SUFU):c.138T>G (p.Pro46=) | Hereditary cancer-predisposing syndrome [RCV002396662] | likely benign | 10 | 102504290 | 102504290 | Human | 1 | name |
| 155707338 | CV1833402 | single nucleotide variant | NM_016169.4(SUFU):c.153G>A (p.Pro51=) | Gorlin syndrome [RCV003774375]|Hereditary cancer-predisposing syndrome [RCV002403140] | likely benign|uncertain significance | 10 | 102504305 | 102504305 | Human | 3 | name |
| 155707363 | CV1833406 | single nucleotide variant | NM_016169.4(SUFU):c.153G>C (p.Pro51=) | Gorlin syndrome [RCV005227728]|Hereditary cancer-predisposing syndrome [RCV002403144] | likely benign | 10 | 102504305 | 102504305 | Human | 3 | name |
| 155707388 | CV1833411 | single nucleotide variant | NM_016169.4(SUFU):c.153G>T (p.Pro51=) | Hereditary cancer-predisposing syndrome [RCV002403149] | likely benign | 10 | 102504305 | 102504305 | Human | 1 | name |
| 155720180 | CV1835744 | single nucleotide variant | NM_016169.4(SUFU):c.129C>A (p.Arg43=) | Hereditary cancer-predisposing syndrome [RCV002380745] | likely benign | 10 | 102504281 | 102504281 | Human | 1 | name |
| 155703616 | CV1838478 | single nucleotide variant | NM_016169.4(SUFU):c.105C>T (p.His35=) | Gorlin syndrome [RCV003774492]|Hereditary cancer-predisposing syndrome [RCV002401849] | likely benign | 10 | 102504257 | 102504257 | Human | 3 | name |
| 155705493 | CV1841061 | single nucleotide variant | NM_016169.4(SUFU):c.108C>T (p.Ala36=) | Hereditary cancer-predisposing syndrome [RCV002445995] | likely benign | 10 | 102504260 | 102504260 | Human | 1 | name |
| 155668321 | CV1846581 | single nucleotide variant | NM_016169.4(SUFU):c.201C>T (p.Pro67=) | Gorlin syndrome [RCV003774599]|Hereditary cancer-predisposing syndrome [RCV002419550] | likely benign | 10 | 102509187 | 102509187 | Human | 3 | name |
| 155684841 | CV1850762 | single nucleotide variant | NM_016169.4(SUFU):c.228T>C (p.Asn76=) | Hereditary cancer-predisposing syndrome [RCV002457475] | likely benign | 10 | 102509214 | 102509214 | Human | 1 | name |
| 155692994 | CV1851238 | single nucleotide variant | NM_016169.4(SUFU):c.240T>C (p.Pro80=) | Hereditary cancer-predisposing syndrome [RCV002459727] | likely benign | 10 | 102509226 | 102509226 | Human | 1 | name |
| 155724406 | CV1851715 | single nucleotide variant | NM_016169.4(SUFU):c.252C>T (p.Ile84=) | Hereditary cancer-predisposing syndrome [RCV002433134] | likely benign | 10 | 102509238 | 102509238 | Human | 1 | name |
| 8557520 | CV18612 | deletion | NM_016169.4(SUFU):c.71del (p.Pro24fs) | Basal cell nevus syndrome 2 [RCV003227597]|Gorlin syndrome [RCV001385138]|Hereditary cancer-predisposing syndrome [RCV003298027]|Medulloblastoma [RCV002291208]|not provided [RCV001573665] | pathogenic | 10 | 102504217 | 102504217 | Human | 5 | name |
| 8557521 | CV18613 | duplication | NM_016169.4(SUFU):c.71dup (p.Ala25fs) | Gorlin syndrome [RCV001041597]|Hereditary cancer-predisposing syndrome [RCV002371757]|Medulloblastoma [RCV001523824] | pathogenic | 10 | 102504216 | 102504217 | Human | 4 | name |
| 156114908 | CV1952265 | single nucleotide variant | NM_016169.4(SUFU):c.120G>A (p.Glu40=) | Gorlin syndrome [RCV002571634] | likely benign | 10 | 102504272 | 102504272 | Human | 2 | name |
| 156250190 | CV1969713 | single nucleotide variant | NM_016169.4(SUFU):c.138T>C (p.Pro46=) | Gorlin syndrome [RCV002597444]|Hereditary cancer-predisposing syndrome [RCV003308164] | likely benign | 10 | 102504290 | 102504290 | Human | 3 | name |
| 155945177 | CV2032659 | single nucleotide variant | NM_016169.4(SUFU):c.111C>T (p.Ile37=) | Gorlin syndrome [RCV002730360] | likely benign | 10 | 102504263 | 102504263 | Human | 2 | name |
| 155981499 | CV2070140 | single nucleotide variant | NM_016169.4(SUFU):c.21C>G (p.Ser7Arg) | Gorlin syndrome [RCV002842542]|Hereditary cancer-predisposing syndrome [RCV005288826] | uncertain significance | 10 | 102504173 | 102504173 | Human | 3 | name |
| 155945821 | CV2139432 | deletion | NM_016169.4(SUFU):c.95del (p.Pro32fs) | Gorlin syndrome [RCV002994335] | pathogenic | 10 | 102504243 | 102504243 | Human | 2 | name |
| 11349081 | CV240726 | single nucleotide variant | NM_016169.4(SUFU):c.198C>T (p.Asp66=) | Gorlin syndrome [RCV000229168]|Hereditary cancer-predisposing syndrome [RCV001013962] | likely benign | 10 | 102509184 | 102509184 | Human | 3 | name |
| 11347767 | CV240727 | single nucleotide variant | NM_016169.4(SUFU):c.210T>C (p.Tyr70=) | Gorlin syndrome [RCV000233220]|Hereditary cancer-predisposing syndrome [RCV000569216]|Medulloblastoma [RCV000301743]|Medulloblastoma [RCV005396813]|not provided [RCV001538677]|not specified [RCV000781898] | benign|likely benign|uncertain significance | 10 | 102509196 | 102509196 | Human | 4 | name |
| 329386151 | CV2433602 | single nucleotide variant | NM_016169.4(SUFU):c.213T>A (p.Val71=) | Hereditary cancer-predisposing syndrome [RCV003177394] | likely benign | 10 | 102509199 | 102509199 | Human | 1 | name |
| 401778478 | CV2732539 | single nucleotide variant | NM_016169.4(SUFU):c.165C>T (p.Thr55=) | Hereditary cancer-predisposing syndrome [RCV003306787] | likely benign | 10 | 102504317 | 102504317 | Human | 1 | name |
| 402499739 | CV3092982 | single nucleotide variant | NM_016169.4(SUFU):c.261C>T (p.His87=) | Gorlin syndrome [RCV003788446] | likely benign | 10 | 102509247 | 102509247 | Human | 2 | name |
| 405004781 | CV3102285 | single nucleotide variant | NM_016169.4(SUFU):c.231G>T (p.Val77=) | Gorlin syndrome [RCV003804331] | likely benign | 10 | 102509217 | 102509217 | Human | 2 | name |
| 11659640 | CV319852 | single nucleotide variant | NM_016169.4(SUFU):c.180C>T (p.Tyr60=) | Medulloblastoma [RCV000360048] | uncertain significance | 10 | 102504332 | 102504332 | Human | 2 | name |
| 597671382 | CV3611880 | single nucleotide variant | NM_016169.4(SUFU):c.195A>G (p.Pro65=) | Hereditary cancer-predisposing syndrome [RCV004949248] | likely benign | 10 | 102509181 | 102509181 | Human | 1 | name |
| 597671557 | CV3611905 | deletion | NM_016169.4(SUFU):c.37del (p.Thr13fs) | Hereditary cancer-predisposing syndrome [RCV004949272] | pathogenic | 10 | 102504189 | 102504189 | Human | 1 | name |
| 597883429 | CV3866000 | single nucleotide variant | NM_016169.4(SUFU):c.165C>A (p.Thr55=) | Gorlin syndrome [RCV005217665] | likely benign | 10 | 102504317 | 102504317 | Human | 2 | name |
| 597836207 | CV3874371 | single nucleotide variant | NM_016169.4(SUFU):c.150C>T (p.Asn50=) | Gorlin syndrome [RCV005210291] | likely benign | 10 | 102504302 | 102504302 | Human | 2 | name |
| 13471475 | CV459830 | single nucleotide variant | NM_016169.4(SUFU):c.252C>A (p.Ile84=) | Gorlin syndrome [RCV000546878]|Hereditary cancer-predisposing syndrome [RCV002456029] | likely benign | 10 | 102509238 | 102509238 | Human | 3 | name |
| 13495186 | CV460481 | single nucleotide variant | NM_016169.4(SUFU):c.279C>T (p.Phe93=) | Gorlin syndrome [RCV000559441]|Hereditary cancer-predisposing syndrome [RCV001016370] | likely benign | 10 | 102509265 | 102509265 | Human | 3 | name |
| 13502691 | CV475238 | single nucleotide variant | NM_016169.4(SUFU):c.126C>G (p.Arg42=) | Gorlin syndrome [RCV000628517]|Hereditary cancer-predisposing syndrome [RCV000575477] | likely benign | 10 | 102504278 | 102504278 | Human | 3 | name |
| 13608458 | CV525250 | single nucleotide variant | NM_016169.4(SUFU):c.135C>T (p.Tyr45=) | Gorlin syndrome [RCV000628524]|Hereditary cancer-predisposing syndrome [RCV004025323] | likely benign | 10 | 102504287 | 102504287 | Human | 3 | name |
| 13608435 | CV525254 | single nucleotide variant | NM_016169.4(SUFU):c.147G>A (p.Pro49=) | Gorlin syndrome [RCV000628516]|Hereditary cancer-predisposing syndrome [RCV004025322] | likely benign | 10 | 102504299 | 102504299 | Human | 3 | name |
| 13608446 | CV525260 | single nucleotide variant | NM_016169.4(SUFU):c.255C>T (p.Pro85=) | Gorlin syndrome [RCV000628520]|Hereditary cancer-predisposing syndrome [RCV001015930]|not provided [RCV003424197] | benign|likely benign | 10 | 102509241 | 102509241 | Human | 3 | name |
| 13608418 | CV525443 | single nucleotide variant | NM_016169.4(SUFU):c.26C>T (p.Ala9Val) | Familial meningioma [RCV003459485]|Gorlin syndrome [RCV000628510]|Hereditary cancer-predisposing syndrome [RCV001016349]|Medulloblastoma [RCV005027739]|not provided [RCV003237957] | likely benign|uncertain significance | 10 | 102504178 | 102504178 | Human | 5 | name |
| 13811690 | CV563517 | single nucleotide variant | NM_016169.4(SUFU):c.22G>T (p.Gly8Cys) | Gorlin syndrome [RCV000688921] | uncertain significance | 10 | 102504174 | 102504174 | Human | 2 | name |
| 15110764 | CV692762 | single nucleotide variant | NM_016169.4(SUFU):c.123C>T (p.Cys41=) | Gorlin syndrome [RCV001480842]|Hereditary cancer-predisposing syndrome [RCV002372468] | likely benign | 10 | 102504275 | 102504275 | Human | 3 | name |
| 15104107 | CV783523 | single nucleotide variant | NM_016169.4(SUFU):c.156C>T (p.Leu52=) | Gorlin syndrome [RCV002066454]|Hereditary cancer-predisposing syndrome [RCV003346237] | likely benign | 10 | 102504308 | 102504308 | Human | 3 | name |
| 25325339 | CV809814 | single nucleotide variant | NM_016169.4(SUFU):c.159G>A (p.Gln53=) | Hereditary cancer-predisposing syndrome [RCV001012298] | likely benign | 10 | 102504311 | 102504311 | Human | 1 | name |
| 25327236 | CV809815 | single nucleotide variant | NM_016169.4(SUFU):c.202T>C (p.Leu68=) | Gorlin syndrome [RCV002068880]|Hereditary cancer-predisposing syndrome [RCV001014140] | likely benign | 10 | 102509188 | 102509188 | Human | 3 | name |
| 25327848 | CV809816 | single nucleotide variant | NM_016169.4(SUFU):c.213T>C (p.Val71=) | Hereditary cancer-predisposing syndrome [RCV001014588] | likely benign | 10 | 102509199 | 102509199 | Human | 1 | name |
| 25328722 | CV809819 | single nucleotide variant | NM_016169.4(SUFU):c.267C>T (p.His89=) | Gorlin syndrome [RCV001414458]|Hereditary cancer-predisposing syndrome [RCV001016309] | likely benign | 10 | 102509253 | 102509253 | Human | 3 | name |
| 25328964 | CV809820 | single nucleotide variant | NM_016169.4(SUFU):c.285G>C (p.Leu95=) | Gorlin syndrome [RCV001462554]|Hereditary cancer-predisposing syndrome [RCV001016803] | likely benign | 10 | 102509271 | 102509271 | Human | 3 | name |
| 38481553 | CV925724 | single nucleotide variant | NM_016169.4(SUFU):c.26C>A (p.Ala9Asp) | Gorlin syndrome [RCV001218056]|Hereditary cancer-predisposing syndrome [RCV002429927] | uncertain significance | 10 | 102504178 | 102504178 | Human | 3 | name |
| 38458175 | CV946792 | single nucleotide variant | NM_016169.4(SUFU):c.13C>T (p.Arg5Trp) | Familial meningioma [RCV003462780]|Gorlin syndrome [RCV001228839]|Hereditary cancer-predisposing syndrome [RCV002393565] | uncertain significance | 10 | 102504165 | 102504165 | Human | 4 | name |
| 126751192 | CV1008847 | single nucleotide variant | NM_016169.4(SUFU):c.67C>G (p.Pro23Ala) | Gorlin syndrome [RCV001316062]|Hereditary cancer-predisposing syndrome [RCV004951510] | uncertain significance | 10 | 102504219 | 102504219 | Human | 3 | name |
| 126744869 | CV1008852 | single nucleotide variant | NM_016169.4(SUFU):c.318G>A (p.Glu106=) | Gorlin syndrome [RCV001325815]|Hereditary cancer-predisposing syndrome [RCV002322254] | likely benign|uncertain significance | 10 | 102549970 | 102549970 | Human | 3 | name |
| 126748918 | CV1008855 | single nucleotide variant | NM_016169.4(SUFU):c.756A>G (p.Gln252=) | Gorlin syndrome [RCV001326432]|Hereditary cancer-predisposing syndrome [RCV002395723] | likely benign|uncertain significance | 10 | 102594065 | 102594065 | Human | 3 | name |
| 126732256 | CV1029422 | single nucleotide variant | NM_016169.4(SUFU):c.64G>C (p.Ala22Pro) | Gorlin syndrome [RCV001349569]|Hereditary cancer-predisposing syndrome [RCV002368147] | uncertain significance | 10 | 102504216 | 102504216 | Human | 3 | name |
| 126748832 | CV1029423 | single nucleotide variant | NM_016169.4(SUFU):c.68C>T (p.Pro23Leu) | Gorlin syndrome [RCV001337733]|Hereditary cancer-predisposing syndrome [RCV002377432] | likely benign|uncertain significance | 10 | 102504220 | 102504220 | Human | 3 | name |
| 126770929 | CV1029424 | single nucleotide variant | NM_016169.4(SUFU):c.74C>T (p.Ala25Val) | Gorlin syndrome [RCV001344752]|Hereditary cancer-predisposing syndrome [RCV002395755] | uncertain significance | 10 | 102504226 | 102504226 | Human | 3 | name |
| 126769548 | CV1029425 | single nucleotide variant | NM_016169.4(SUFU):c.91C>A (p.Pro31Thr) | Gorlin syndrome [RCV001343977]|Hereditary cancer-predisposing syndrome [RCV004036412] | uncertain significance | 10 | 102504243 | 102504243 | Human | 3 | name |
| 126921886 | CV1046399 | single nucleotide variant | NM_016169.4(SUFU):c.28C>T (p.Pro10Ser) | Gorlin syndrome [RCV001364016] | uncertain significance | 10 | 102504180 | 102504180 | Human | 2 | name |
| 126923784 | CV1046400 | single nucleotide variant | NM_016169.4(SUFU):c.43C>G (p.Pro15Ala) | Gorlin syndrome [RCV001366244]|Hereditary cancer-predisposing syndrome [RCV002329374] | uncertain significance | 10 | 102504195 | 102504195 | Human | 3 | name |
| 126914114 | CV1046401 | single nucleotide variant | NM_016169.4(SUFU):c.91C>T (p.Pro31Ser) | Gorlin syndrome [RCV001359421] | uncertain significance | 10 | 102504243 | 102504243 | Human | 2 | name |
| 126920907 | CV1046407 | single nucleotide variant | NM_016169.4(SUFU):c.882C>T (p.Gly294=) | Gorlin syndrome [RCV001374083]|Hereditary cancer-predisposing syndrome [RCV002447496]|not provided [RCV004762135] | likely benign|uncertain significance | 10 | 102597265 | 102597265 | Human | 3 | name |
| 127274704 | CV1076876 | single nucleotide variant | NM_016169.4(SUFU):c.609C>T (p.Val203=) | Gorlin syndrome [RCV001406404]|Hereditary cancer-predisposing syndrome [RCV002358907] | likely benign | 10 | 102593647 | 102593647 | Human | 3 | name |
| 127239363 | CV1076877 | single nucleotide variant | NM_016169.4(SUFU):c.741C>T (p.Ile247=) | Gorlin syndrome [RCV001392699]|Hereditary cancer-predisposing syndrome [RCV002384557] | likely benign|uncertain significance | 10 | 102594050 | 102594050 | Human | 3 | name |
| 127234527 | CV1076878 | single nucleotide variant | NM_016169.4(SUFU):c.753G>C (p.Leu251=) | Gorlin syndrome [RCV001396445]|Hereditary cancer-predisposing syndrome [RCV004037769] | likely benign | 10 | 102594062 | 102594062 | Human | 3 | name |
| 127274599 | CV1076879 | single nucleotide variant | NM_016169.4(SUFU):c.795C>T (p.Asn265=) | Gorlin syndrome [RCV001406352]|Hereditary cancer-predisposing syndrome [RCV002413962] | likely benign | 10 | 102597178 | 102597178 | Human | 3 | name |
| 127278982 | CV1098522 | single nucleotide variant | NM_016169.4(SUFU):c.363C>T (p.Thr121=) | Gorlin syndrome [RCV001445464]|Hereditary cancer-predisposing syndrome [RCV002350892] | likely benign | 10 | 102550015 | 102550015 | Human | 3 | name |
| 127267212 | CV1098526 | single nucleotide variant | NM_016169.4(SUFU):c.624A>G (p.Leu208=) | Gorlin syndrome [RCV001440498]|Hereditary cancer-predisposing syndrome [RCV002368357] | likely benign | 10 | 102593662 | 102593662 | Human | 3 | name |
| 127276202 | CV1098528 | single nucleotide variant | NM_016169.4(SUFU):c.708T>C (p.Thr236=) | Gorlin syndrome [RCV001443709] | likely benign | 10 | 102594017 | 102594017 | Human | 2 | name |
| 127275237 | CV1098529 | single nucleotide variant | NM_016169.4(SUFU):c.822C>T (p.Ala274=) | Gorlin syndrome [RCV001443251] | likely benign | 10 | 102597205 | 102597205 | Human | 2 | name |
| 127255271 | CV1098530 | single nucleotide variant | NM_016169.4(SUFU):c.834G>C (p.Leu278=) | Gorlin syndrome [RCV001437433]|Hereditary cancer-predisposing syndrome [RCV002439025] | likely benign | 10 | 102597217 | 102597217 | Human | 3 | name |
| 127276138 | CV1098531 | single nucleotide variant | NM_016169.4(SUFU):c.843C>A (p.Pro281=) | Gorlin syndrome [RCV001443680]|Hereditary cancer-predisposing syndrome [RCV004951759] | likely benign | 10 | 102597226 | 102597226 | Human | 3 | name |
| 127307667 | CV1120108 | single nucleotide variant | NM_016169.4(SUFU):c.426G>A (p.Gln142=) | Gorlin syndrome [RCV001463110]|Hereditary cancer-predisposing syndrome [RCV002329537] | likely benign | 10 | 102550078 | 102550078 | Human | 3 | name |
| 127300676 | CV1120110 | single nucleotide variant | NM_016169.4(SUFU):c.543G>A (p.Glu181=) | Gorlin syndrome [RCV001453952]|Hereditary cancer-predisposing syndrome [RCV003160834] | likely benign | 10 | 102592670 | 102592670 | Human | 3 | name |
| 127307812 | CV1120113 | single nucleotide variant | NM_016169.4(SUFU):c.654C>A (p.Gly218=) | Gorlin syndrome [RCV001455873]|Hereditary cancer-predisposing syndrome [RCV002368395] | likely benign | 10 | 102593692 | 102593692 | Human | 3 | name |
| 127287750 | CV1120114 | single nucleotide variant | NM_016169.4(SUFU):c.774C>A (p.Gly258=) | Gorlin syndrome [RCV001450214]|Hereditary cancer-predisposing syndrome [RCV004681185] | likely benign | 10 | 102597157 | 102597157 | Human | 3 | name |
| 127300955 | CV1120115 | single nucleotide variant | NM_016169.4(SUFU):c.900C>T (p.Leu300=) | Gorlin syndrome [RCV001461242]|Hereditary cancer-predisposing syndrome [RCV002377777] | likely benign | 10 | 102597283 | 102597283 | Human | 3 | name |
| 127294969 | CV1120117 | single nucleotide variant | NM_016169.4(SUFU):c.978A>T (p.Pro326=) | Gorlin syndrome [RCV001476988] | likely benign | 10 | 102599500 | 102599500 | Human | 2 | name |
| 127299344 | CV1120120 | insertion | NM_016169.4(SUFU):c.1158-10_1158-9insT | Gorlin syndrome [RCV001460778] | likely benign | 10 | 102617280 | 102617281 | Human | 2 | name |
| 127328054 | CV1140947 | single nucleotide variant | NM_016169.4(SUFU):c.480T>C (p.His160=) | Gorlin syndrome [RCV001506894]|Hereditary cancer-predisposing syndrome [RCV002329645]|SUFU-related disorder [RCV004550272] | likely benign | 10 | 102592607 | 102592607 | Human | 4 | name , alternate_id |
| 127327703 | CV1140948 | single nucleotide variant | NM_016169.4(SUFU):c.546C>T (p.Asp182=) | Gorlin syndrome [RCV001486448] | likely benign | 10 | 102592673 | 102592673 | Human | 2 | name |
| 127318617 | CV1140950 | single nucleotide variant | NM_016169.4(SUFU):c.669G>A (p.Leu223=) | Gorlin syndrome [RCV001503760]|Hereditary cancer-predisposing syndrome [RCV002256813] | likely benign | 10 | 102593707 | 102593707 | Human | 3 | name |
| 150555001 | CV1309991 | single nucleotide variant | NM_016169.4(SUFU):c.31G>C (p.Gly11Arg) | Hereditary cancer-predisposing syndrome [RCV002256837]|Medulloblastoma [RCV005397013]|not provided [RCV003238000] | conflicting interpretations of pathogenicity|uncertain significance | 10 | 102504183 | 102504183 | Human | 3 | name |
| 150533466 | CV1311175 | single nucleotide variant | NM_016169.4(SUFU):c.438A>G (p.Arg146=) | not provided [RCV001776910] | uncertain significance | 10 | 102550090 | 102550090 | Human | | name |
| 151877537 | CV1368873 | single nucleotide variant | NM_016169.4(SUFU):c.80C>T (p.Ala27Val) | Gorlin syndrome [RCV001999120] | uncertain significance | 10 | 102504232 | 102504232 | Human | 2 | name |
| 151765205 | CV1387454 | single nucleotide variant | NM_016169.4(SUFU):c.92C>T (p.Pro31Leu) | Gorlin syndrome [RCV001987705]|Hereditary cancer-predisposing syndrome [RCV002370593] | uncertain significance | 10 | 102504244 | 102504244 | Human | 3 | name |
| 151870263 | CV1416966 | single nucleotide variant | NM_016169.4(SUFU):c.95C>T (p.Pro32Leu) | Gorlin syndrome [RCV001998240]|Hereditary cancer-predisposing syndrome [RCV004671585] | uncertain significance | 10 | 102504247 | 102504247 | Human | 3 | name |
| 151739862 | CV1455253 | single nucleotide variant | NM_016169.4(SUFU):c.73G>A (p.Ala25Thr) | Gorlin syndrome [RCV002005708] | uncertain significance | 10 | 102504225 | 102504225 | Human | 2 | name |
| 151809614 | CV1459867 | single nucleotide variant | NM_016169.4(SUFU):c.38C>G (p.Thr13Ser) | Gorlin syndrome [RCV002048729]|Hereditary cancer-predisposing syndrome [RCV002352766] | uncertain significance | 10 | 102504190 | 102504190 | Human | 3 | name |
| 151775959 | CV1463762 | single nucleotide variant | NM_016169.4(SUFU):c.654C>T (p.Gly218=) | Gorlin syndrome [RCV001896792]|Hereditary cancer-predisposing syndrome [RCV004946847] | likely benign|uncertain significance | 10 | 102593692 | 102593692 | Human | 3 | name |
| 151870658 | CV1476997 | single nucleotide variant | NM_016169.4(SUFU):c.53C>G (p.Pro18Arg) | Gorlin syndrome [RCV001925163]|Hereditary cancer-predisposing syndrome [RCV002343997] | uncertain significance | 10 | 102504205 | 102504205 | Human | 3 | name |
| 152076843 | CV1531224 | single nucleotide variant | NM_016169.4(SUFU):c.375G>A (p.Lys125=) | Gorlin syndrome [RCV002210711]|Hereditary cancer-predisposing syndrome [RCV002363718] | likely benign | 10 | 102550027 | 102550027 | Human | 3 | name |
| 152125108 | CV1532281 | single nucleotide variant | NM_016169.4(SUFU):c.846C>G (p.Pro282=) | Gorlin syndrome [RCV002118351]|Hereditary cancer-predisposing syndrome [RCV003355817] | likely benign | 10 | 102597229 | 102597229 | Human | 3 | name |
| 152150046 | CV1545502 | single nucleotide variant | NM_016169.4(SUFU):c.948C>T (p.Leu316=) | Gorlin syndrome [RCV002121612]|Hereditary cancer-predisposing syndrome [RCV002372988] | likely benign | 10 | 102599470 | 102599470 | Human | 3 | name |
| 152099260 | CV1546860 | single nucleotide variant | NM_016169.4(SUFU):c.438A>T (p.Arg146=) | Gorlin syndrome [RCV002133054] | likely benign | 10 | 102550090 | 102550090 | Human | 2 | name |
| 152081884 | CV1548342 | single nucleotide variant | NM_016169.4(SUFU):c.664C>T (p.Leu222=) | Gorlin syndrome [RCV002076477]|Hereditary cancer-predisposing syndrome [RCV002363635] | likely benign | 10 | 102593702 | 102593702 | Human | 3 | name |
| 152129149 | CV1549200 | single nucleotide variant | NM_016169.4(SUFU):c.633C>T (p.Ala211=) | Gorlin syndrome [RCV002099244]|Hereditary cancer-predisposing syndrome [RCV002363642] | likely benign | 10 | 102593671 | 102593671 | Human | 3 | name |
| 152106005 | CV1560008 | single nucleotide variant | NM_016169.4(SUFU):c.327A>G (p.Gly109=) | Gorlin syndrome [RCV002133859] | likely benign | 10 | 102549979 | 102549979 | Human | 2 | name |
| 152041945 | CV1568506 | duplication | NM_016169.4(SUFU):c.1158-18_1158-15dup | Gorlin syndrome [RCV002107862] | likely benign | 10 | 102617270 | 102617271 | Human | 2 | name |
| 152054918 | CV1574413 | single nucleotide variant | NM_016169.4(SUFU):c.804T>C (p.Gly268=) | Gorlin syndrome [RCV002189845]|Hereditary cancer-predisposing syndrome [RCV002407354] | likely benign | 10 | 102597187 | 102597187 | Human | 3 | name |
| 152167699 | CV1577516 | single nucleotide variant | NM_016169.4(SUFU):c.885A>G (p.Thr295=) | Gorlin syndrome [RCV002204777]|Hereditary cancer-predisposing syndrome [RCV002443133] | likely benign | 10 | 102597268 | 102597268 | Human | 3 | name |
| 152056603 | CV1588274 | single nucleotide variant | NM_016169.4(SUFU):c.477C>T (p.Asp159=) | Gorlin syndrome [RCV002190040]|Hereditary cancer-predisposing syndrome [RCV002337212] | likely benign | 10 | 102592604 | 102592604 | Human | 3 | name |
| 152090295 | CV1594038 | single nucleotide variant | NM_016169.4(SUFU):c.762A>G (p.Arg254=) | Gorlin syndrome [RCV002171734]|Hereditary cancer-predisposing syndrome [RCV002391342] | likely benign | 10 | 102597145 | 102597145 | Human | 3 | name |
| 152136259 | CV1595113 | single nucleotide variant | NM_016169.4(SUFU):c.753G>A (p.Leu251=) | Gorlin syndrome [RCV002199982]|Hereditary cancer-predisposing syndrome [RCV002391178] | likely benign | 10 | 102594062 | 102594062 | Human | 3 | name |
| 152114974 | CV1600377 | single nucleotide variant | NM_016169.4(SUFU):c.660G>A (p.Leu220=) | Gorlin syndrome [RCV002097351] | likely benign | 10 | 102593698 | 102593698 | Human | 2 | name |
| 152131430 | CV1604449 | single nucleotide variant | NM_016169.4(SUFU):c.411C>A (p.Pro137=) | Gorlin syndrome [RCV002099539] | likely benign | 10 | 102550063 | 102550063 | Human | 2 | name |
| 152140755 | CV1609134 | single nucleotide variant | NM_016169.4(SUFU):c.696C>T (p.Pro232=) | Gorlin syndrome [RCV002200543]|Hereditary cancer-predisposing syndrome [RCV002363702] | likely benign | 10 | 102594005 | 102594005 | Human | 3 | name |
| 152077292 | CV1612943 | single nucleotide variant | NM_016169.4(SUFU):c.363C>A (p.Thr121=) | Gorlin syndrome [RCV002075903]|Hereditary cancer-predisposing syndrome [RCV002454492] | likely benign | 10 | 102550015 | 102550015 | Human | 3 | name |
| 152088056 | CV1614779 | single nucleotide variant | NM_016169.4(SUFU):c.933C>T (p.Thr311=) | Gorlin syndrome [RCV002093783] | likely benign | 10 | 102599455 | 102599455 | Human | 2 | name |
| 152124229 | CV1634218 | single nucleotide variant | NM_016169.4(SUFU):c.447C>T (p.Phe149=) | Gorlin syndrome [RCV002217182]|Hereditary cancer-predisposing syndrome [RCV002331704] | likely benign | 10 | 102550099 | 102550099 | Human | 3 | name |
| 152169316 | CV1637005 | single nucleotide variant | NM_016169.4(SUFU):c.987T>G (p.Pro329=) | Gorlin syndrome [RCV002182754]|Hereditary cancer-predisposing syndrome [RCV004947093] | likely benign | 10 | 102599509 | 102599509 | Human | 3 | name |
| 152979432 | CV1676232 | deletion | NM_016169.4(SUFU):c.160del (p.Val54fs) | Gorlin syndrome [RCV002245309] | pathogenic | 10 | 102504311 | 102504311 | Human | 1 | name |
| 155749292 | CV1775349 | single nucleotide variant | NM_016169.4(SUFU):c.52C>A (p.Pro18Thr) | Gorlin syndrome [RCV002304498] | uncertain significance | 10 | 102504204 | 102504204 | Human | 2 | name |
| 155732203 | CV1785684 | single nucleotide variant | NM_016169.4(SUFU):c.336A>T (p.Gly112=) | Gorlin syndrome [RCV005213663]|Hereditary cancer-predisposing syndrome [RCV002451704] | likely benign | 10 | 102549988 | 102549988 | Human | 3 | name |
| 155724433 | CV1790822 | single nucleotide variant | NM_016169.4(SUFU):c.417G>A (p.Glu139=) | Hereditary cancer-predisposing syndrome [RCV002327700] | likely benign | 10 | 102550069 | 102550069 | Human | 1 | name |
| 155701840 | CV1791343 | single nucleotide variant | NM_016169.4(SUFU):c.43C>T (p.Pro15Ser) | Hereditary cancer-predisposing syndrome [RCV002333729] | uncertain significance | 10 | 102504195 | 102504195 | Human | 1 | name |
| 155694201 | CV1791696 | single nucleotide variant | NM_016169.4(SUFU):c.315T>C (p.His105=) | Hereditary cancer-predisposing syndrome [RCV002320928] | likely benign | 10 | 102509301 | 102509301 | Human | 1 | name |
| 155721119 | CV1793375 | single nucleotide variant | NM_016169.4(SUFU):c.37A>T (p.Thr13Ser) | Hereditary cancer-predisposing syndrome [RCV002363950] | uncertain significance | 10 | 102504189 | 102504189 | Human | 1 | name |
| 155695567 | CV1793857 | single nucleotide variant | NM_016169.4(SUFU):c.399A>G (p.Pro133=) | Gorlin syndrome [RCV003094476]|Hereditary cancer-predisposing syndrome [RCV002357777] | likely benign | 10 | 102550051 | 102550051 | Human | 3 | name |
| 155682308 | CV1795746 | single nucleotide variant | NM_016169.4(SUFU):c.342T>C (p.Ser114=) | Hereditary cancer-predisposing syndrome [RCV002457027] | likely benign | 10 | 102549994 | 102549994 | Human | 1 | name |
| 155744521 | CV1796141 | single nucleotide variant | NM_016169.4(SUFU):c.35C>A (p.Pro12His) | Hereditary cancer-predisposing syndrome [RCV002346596] | uncertain significance | 10 | 102504187 | 102504187 | Human | 1 | name |
| 155741008 | CV1797465 | single nucleotide variant | NM_016169.4(SUFU):c.414A>T (p.Ala138=) | Gorlin syndrome [RCV005227602]|Hereditary cancer-predisposing syndrome [RCV002333208] | likely benign | 10 | 102550066 | 102550066 | Human | 3 | name |
| 155746557 | CV1800227 | single nucleotide variant | NM_016169.4(SUFU):c.570A>G (p.Thr190=) | Gorlin syndrome [RCV003776148]|Hereditary cancer-predisposing syndrome [RCV002347598] | likely benign | 10 | 102592697 | 102592697 | Human | 3 | name |
| 155672424 | CV1801017 | single nucleotide variant | NM_016169.4(SUFU):c.627C>T (p.His209=) | Hereditary cancer-predisposing syndrome [RCV002368682] | likely benign | 10 | 102593665 | 102593665 | Human | 1 | name |
| 155666825 | CV1803094 | single nucleotide variant | NM_016169.4(SUFU):c.540A>G (p.Thr180=) | Hereditary cancer-predisposing syndrome [RCV002349395] | likely benign | 10 | 102592667 | 102592667 | Human | 1 | name |
| 155722648 | CV1804460 | single nucleotide variant | NM_016169.4(SUFU):c.64G>T (p.Ala22Ser) | Hereditary cancer-predisposing syndrome [RCV002364136] | uncertain significance | 10 | 102504216 | 102504216 | Human | 1 | name |
| 155743325 | CV1806733 | single nucleotide variant | NM_016169.4(SUFU):c.558G>A (p.Gln186=) | Gorlin syndrome [RCV003776132]|Hereditary cancer-predisposing syndrome [RCV002344814] | likely benign | 10 | 102592685 | 102592685 | Human | 3 | name |
| 155680726 | CV1807278 | single nucleotide variant | NM_016169.4(SUFU):c.588C>G (p.Thr196=) | Gorlin syndrome [RCV003776177]|Hereditary cancer-predisposing syndrome [RCV002353567] | likely benign | 10 | 102592715 | 102592715 | Human | 3 | name |
| 155740543 | CV1809450 | single nucleotide variant | NM_016169.4(SUFU):c.49G>C (p.Ala17Pro) | Gorlin syndrome [RCV005213686]|Hereditary cancer-predisposing syndrome [RCV002343020] | uncertain significance | 10 | 102504201 | 102504201 | Human | 3 | name |
| 155747507 | CV1813732 | single nucleotide variant | NM_016169.4(SUFU):c.796C>T (p.Leu266=) | Hereditary cancer-predisposing syndrome [RCV002416920] | likely benign | 10 | 102597179 | 102597179 | Human | 1 | name |
| 155742440 | CV1813810 | single nucleotide variant | NM_016169.4(SUFU):c.798G>A (p.Leu266=) | Hereditary cancer-predisposing syndrome [RCV002412401] | likely benign | 10 | 102597181 | 102597181 | Human | 1 | name |
| 155665297 | CV1813812 | single nucleotide variant | NM_016169.4(SUFU):c.798G>C (p.Leu266=) | Hereditary cancer-predisposing syndrome [RCV002419079] | likely benign | 10 | 102597181 | 102597181 | Human | 1 | name |
| 155742443 | CV1813815 | single nucleotide variant | NM_016169.4(SUFU):c.798G>T (p.Leu266=) | Hereditary cancer-predisposing syndrome [RCV002412402] | likely benign | 10 | 102597181 | 102597181 | Human | 1 | name |
| 155663695 | CV1814332 | single nucleotide variant | NM_016169.4(SUFU):c.83C>T (p.Ser28Leu) | Familial meningioma [RCV004572385]|Hereditary cancer-predisposing syndrome [RCV002434899] | uncertain significance | 10 | 102504235 | 102504235 | Human | 2 | name |
| 155683287 | CV1814996 | single nucleotide variant | NM_016169.4(SUFU):c.927G>A (p.Arg309=) | Gorlin syndrome [RCV003100132]|Hereditary cancer-predisposing syndrome [RCV002371459] | likely benign | 10 | 102599449 | 102599449 | Human | 3 | name |
| 155741583 | CV1816448 | single nucleotide variant | NM_016169.4(SUFU):c.783A>G (p.Thr261=) | Hereditary cancer-predisposing syndrome [RCV002412146] | likely benign | 10 | 102597166 | 102597166 | Human | 1 | name |
| 155742180 | CV1816580 | single nucleotide variant | NM_016169.4(SUFU):c.786T>C (p.Asp262=) | Hereditary cancer-predisposing syndrome [RCV002412278] | likely benign | 10 | 102597169 | 102597169 | Human | 1 | name |
| 155747156 | CV1816693 | single nucleotide variant | NM_016169.4(SUFU):c.789C>G (p.Gly263=) | Hereditary cancer-predisposing syndrome [RCV002416610] | likely benign | 10 | 102597172 | 102597172 | Human | 1 | name |
| 155707981 | CV1817168 | single nucleotide variant | NM_016169.4(SUFU):c.828T>C (p.Asp276=) | Gorlin syndrome [RCV003103489]|Hereditary cancer-predisposing syndrome [RCV002430281] | likely benign | 10 | 102597211 | 102597211 | Human | 3 | name |
| 155711514 | CV1817852 | single nucleotide variant | NM_016169.4(SUFU):c.912C>T (p.Asp304=) | Gorlin syndrome [RCV003103562]|Hereditary cancer-predisposing syndrome [RCV002378731] | likely benign|uncertain significance | 10 | 102599434 | 102599434 | Human | 3 | name |
| 155676727 | CV1818730 | single nucleotide variant | NM_016169.4(SUFU):c.678G>T (p.Val226=) | Gorlin syndrome [RCV003103331]|Hereditary cancer-predisposing syndrome [RCV002369408] | likely benign | 10 | 102593716 | 102593716 | Human | 3 | name |
| 155714504 | CV1820813 | single nucleotide variant | NM_016169.4(SUFU):c.858G>A (p.Glu286=) | Gorlin syndrome [RCV003099980]|Hereditary cancer-predisposing syndrome [RCV002447928] | likely benign | 10 | 102597241 | 102597241 | Human | 3 | name |
| 155700533 | CV1821093 | single nucleotide variant | NM_016169.4(SUFU):c.900C>G (p.Leu300=) | Gorlin syndrome [RCV005227704]|Hereditary cancer-predisposing syndrome [RCV002376375] | likely benign | 10 | 102597283 | 102597283 | Human | 3 | name |
| 155729077 | CV1823454 | single nucleotide variant | NM_016169.4(SUFU):c.76T>A (p.Phe26Ile) | Hereditary cancer-predisposing syndrome [RCV002400594] | uncertain significance | 10 | 102504228 | 102504228 | Human | 1 | name |
| 155704989 | CV1824010 | single nucleotide variant | NM_016169.4(SUFU):c.840G>A (p.Arg280=) | Hereditary cancer-predisposing syndrome [RCV002445862] | likely benign | 10 | 102597223 | 102597223 | Human | 1 | name |
| 155742920 | CV1824014 | single nucleotide variant | NM_016169.4(SUFU):c.840G>T (p.Arg280=) | Gorlin syndrome [RCV003099936]|Hereditary cancer-predisposing syndrome [RCV002412605] | likely benign | 10 | 102597223 | 102597223 | Human | 3 | name |
| 155723107 | CV1824391 | single nucleotide variant | NM_016169.4(SUFU):c.885A>C (p.Thr295=) | Gorlin syndrome [RCV003100042]|Hereditary cancer-predisposing syndrome [RCV002449831] | likely benign | 10 | 102597268 | 102597268 | Human | 3 | name |
| 155723527 | CV1824720 | single nucleotide variant | NM_016169.4(SUFU):c.894G>A (p.Arg298=) | Hereditary cancer-predisposing syndrome [RCV002449885] | likely benign | 10 | 102597277 | 102597277 | Human | 1 | name |
| 155673744 | CV1825621 | single nucleotide variant | NM_016169.4(SUFU):c.978A>C (p.Pro326=) | Gorlin syndrome [RCV005209584]|Hereditary cancer-predisposing syndrome [RCV002387186] | likely benign | 10 | 102599500 | 102599500 | Human | 3 | name |
| 155674413 | CV1828793 | single nucleotide variant | NM_016169.4(SUFU):c.984C>T (p.Asn328=) | Hereditary cancer-predisposing syndrome [RCV002387291] | likely benign | 10 | 102599506 | 102599506 | Human | 1 | name |
| 155729103 | CV1828987 | single nucleotide variant | NM_016169.4(SUFU):c.990G>A (p.Gln330=) | Hereditary cancer-predisposing syndrome [RCV002382795] | likely benign | 10 | 102599512 | 102599512 | Human | 1 | name |
| 155729634 | CV1829083 | single nucleotide variant | NM_016169.4(SUFU):c.993G>A (p.Arg331=) | Hereditary cancer-predisposing syndrome [RCV002382891] | likely benign | 10 | 102599515 | 102599515 | Human | 1 | name |
| 8596158 | CV18608 | single nucleotide variant | NM_016169.4(SUFU):c.44C>T (p.Pro15Leu) | Medulloblastoma [RCV000003750]|not provided [RCV004772827] | pathogenic|uncertain significance|other | 10 | 102504196 | 102504196 | Human | 2 | name |
| 8557517 | CV18609 | duplication | NM_016169.4(SUFU):c.143dup (p.Pro49fs) | Medulloblastoma [RCV002291206] | pathogenic | 10 | 102504294 | 102504295 | Human | 2 | name |
| 156263423 | CV1869275 | single nucleotide variant | NM_016169.4(SUFU):c.666G>C (p.Leu222=) | Gorlin syndrome [RCV003060443]|Hereditary cancer-predisposing syndrome [RCV003348996] | likely benign | 10 | 102593704 | 102593704 | Human | 3 | name |
| 156288769 | CV1897199 | single nucleotide variant | NM_016169.4(SUFU):c.687T>C (p.Ala229=) | Gorlin syndrome [RCV002598664] | likely benign | 10 | 102593996 | 102593996 | Human | 2 | name |
| 156299188 | CV1919860 | single nucleotide variant | NM_016169.4(SUFU):c.492C>T (p.His164=) | Gorlin syndrome [RCV002599085] | likely benign | 10 | 102592619 | 102592619 | Human | 2 | name |
| 156203198 | CV1952623 | single nucleotide variant | NM_016169.4(SUFU):c.82T>G (p.Ser28Ala) | Gorlin syndrome [RCV002574855] | uncertain significance | 10 | 102504234 | 102504234 | Human | 2 | name |
| 156400643 | CV1981896 | single nucleotide variant | NM_016169.4(SUFU):c.47C>T (p.Pro16Leu) | Gorlin syndrome [RCV002605568]|Hereditary cancer-predisposing syndrome [RCV003375653] | uncertain significance | 10 | 102504199 | 102504199 | Human | 3 | name |
| 156100511 | CV1981935 | single nucleotide variant | NM_016169.4(SUFU):c.720G>A (p.Arg240=) | Gorlin syndrome [RCV002622195]|Hereditary cancer-predisposing syndrome [RCV003167532] | likely benign | 10 | 102594029 | 102594029 | Human | 3 | name |
| 155913877 | CV1990319 | single nucleotide variant | NM_016169.4(SUFU):c.915A>G (p.Thr305=) | Gorlin syndrome [RCV002614185]|Hereditary cancer-predisposing syndrome [RCV004065835] | likely benign|uncertain significance | 10 | 102599437 | 102599437 | Human | 3 | name |
| 155926666 | CV2041420 | deletion | NM_016169.4(SUFU):c.1296+13_1296+91del | Gorlin syndrome [RCV002750962] | likely benign | 10 | 102617438 | 102617516 | Human | 2 | name |
| 155937197 | CV2045928 | single nucleotide variant | NM_016169.4(SUFU):c.681T>C (p.Pro227=) | Gorlin syndrome [RCV002751542] | likely benign | 10 | 102593719 | 102593719 | Human | 2 | name |
| 156289879 | CV2055102 | single nucleotide variant | NM_016169.4(SUFU):c.771A>G (p.Lys257=) | Gorlin syndrome [RCV002833157] | likely benign | 10 | 102597154 | 102597154 | Human | 2 | name |
| 156272824 | CV2056053 | single nucleotide variant | NM_016169.4(SUFU):c.663G>A (p.Glu221=) | Gorlin syndrome [RCV002806723] | likely benign | 10 | 102593701 | 102593701 | Human | 2 | name |
| 155955236 | CV2077562 | single nucleotide variant | NM_016169.4(SUFU):c.972T>C (p.Leu324=) | Gorlin syndrome [RCV002880727] | likely benign | 10 | 102599494 | 102599494 | Human | 2 | name |
| 155966339 | CV2085680 | single nucleotide variant | NM_016169.4(SUFU):c.363C>G (p.Thr121=) | Gorlin syndrome [RCV002881273] | likely benign | 10 | 102550015 | 102550015 | Human | 2 | name |
| 156234906 | CV2094002 | single nucleotide variant | NM_016169.4(SUFU):c.402A>G (p.Pro134=) | Gorlin syndrome [RCV002894696] | likely benign | 10 | 102550054 | 102550054 | Human | 2 | name |
| 156327273 | CV2116132 | single nucleotide variant | NM_016169.4(SUFU):c.46C>G (p.Pro16Ala) | Gorlin syndrome [RCV002938160] | uncertain significance | 10 | 102504198 | 102504198 | Human | 2 | name |
| 156321131 | CV2123795 | single nucleotide variant | NM_016169.4(SUFU):c.600C>A (p.Ile200=) | Gorlin syndrome [RCV002963205] | likely benign | 10 | 102593638 | 102593638 | Human | 2 | name |
| 10405963 | CV213595 | deletion | NM_016169.4(SUFU):c.111del (p.Tyr38fs) | Medulloblastoma [RCV000200021] | pathogenic|likely pathogenic | 10 | 102504263 | 102504263 | Human | 2 | name |
| 156226208 | CV2164692 | single nucleotide variant | NM_016169.4(SUFU):c.516A>C (p.Ser172=) | Gorlin syndrome [RCV003042910] | likely benign | 10 | 102592643 | 102592643 | Human | 2 | name |
| 156024146 | CV2175067 | single nucleotide variant | NM_016169.4(SUFU):c.58C>G (p.Pro20Ala) | Familial meningioma [RCV003459715]|Gorlin syndrome [RCV003035878]|Hereditary cancer-predisposing syndrome [RCV005288884] | uncertain significance | 10 | 102504210 | 102504210 | Human | 4 | name |
| 243061594 | CV2406517 | single nucleotide variant | NM_016169.4(SUFU):c.34C>A (p.Pro12Thr) | not provided [RCV003138858] | uncertain significance | 10 | 102504186 | 102504186 | Human | | name |
| 329383523 | CV2422307 | single nucleotide variant | NM_016169.4(SUFU):c.53C>T (p.Pro18Leu) | Gorlin syndrome [RCV003778944]|Hereditary cancer-predisposing syndrome [RCV003176337] | uncertain significance | 10 | 102504205 | 102504205 | Human | 3 | name |
| 329386116 | CV2433589 | single nucleotide variant | NM_016169.4(SUFU):c.954C>A (p.Ile318=) | Hereditary cancer-predisposing syndrome [RCV003177381] | likely benign | 10 | 102599476 | 102599476 | Human | 1 | name |
| 329386119 | CV2433590 | single nucleotide variant | NM_016169.4(SUFU):c.37A>G (p.Thr13Ala) | Hereditary cancer-predisposing syndrome [RCV003177382] | likely benign | 10 | 102504189 | 102504189 | Human | 1 | name |
| 329386126 | CV2433593 | single nucleotide variant | NM_016169.4(SUFU):c.753G>T (p.Leu251=) | Hereditary cancer-predisposing syndrome [RCV003177385] | likely benign | 10 | 102594062 | 102594062 | Human | 1 | name |
| 329386129 | CV2433594 | single nucleotide variant | NM_016169.4(SUFU):c.906C>T (p.Gly302=) | Hereditary cancer-predisposing syndrome [RCV003177386] | uncertain significance | 10 | 102597289 | 102597289 | Human | 1 | name |
| 329386132 | CV2433595 | single nucleotide variant | NM_016169.4(SUFU):c.339T>C (p.Pro113=) | Hereditary cancer-predisposing syndrome [RCV003177387] | likely benign | 10 | 102549991 | 102549991 | Human | 1 | name |
| 329386137 | CV2433597 | single nucleotide variant | NM_016169.4(SUFU):c.324A>G (p.Thr108=) | Hereditary cancer-predisposing syndrome [RCV003177389] | likely benign | 10 | 102549976 | 102549976 | Human | 1 | name |
| 329386140 | CV2433598 | single nucleotide variant | NM_016169.4(SUFU):c.52C>G (p.Pro18Ala) | Hereditary cancer-predisposing syndrome [RCV003177390] | uncertain significance | 10 | 102504204 | 102504204 | Human | 1 | name |
| 329386159 | CV2433605 | single nucleotide variant | NM_016169.4(SUFU):c.579G>T (p.Gly193=) | Hereditary cancer-predisposing syndrome [RCV003177397] | likely benign | 10 | 102592706 | 102592706 | Human | 1 | name |
| 329371863 | CV2454961 | single nucleotide variant | NM_016169.4(SUFU):c.306C>T (p.Asn102=) | Hereditary cancer-predisposing syndrome [RCV003209929] | likely benign | 10 | 102509292 | 102509292 | Human | 1 | name |
| 401784248 | CV2721194 | single nucleotide variant | NM_016169.4(SUFU):c.40G>A (p.Ala14Thr) | Hereditary cancer-predisposing syndrome [RCV003310401] | uncertain significance | 10 | 102504192 | 102504192 | Human | 1 | name |
| 401764314 | CV2727903 | single nucleotide variant | NM_016169.4(SUFU):c.951G>A (p.Glu317=) | Gorlin syndrome [RCV003777112]|Hereditary cancer-predisposing syndrome [RCV003300859] | likely benign | 10 | 102599473 | 102599473 | Human | 3 | name |
| 401764319 | CV2727905 | single nucleotide variant | NM_016169.4(SUFU):c.838C>A (p.Arg280=) | Gorlin syndrome [RCV003777113]|Hereditary cancer-predisposing syndrome [RCV003300861] | likely benign | 10 | 102597221 | 102597221 | Human | 3 | name |
| 401778476 | CV2732537 | single nucleotide variant | NM_016169.4(SUFU):c.837C>T (p.Ser279=) | Hereditary cancer-predisposing syndrome [RCV003306786] | likely benign | 10 | 102597220 | 102597220 | Human | 1 | name |
| 401755041 | CV2732538 | single nucleotide variant | NM_016169.4(SUFU):c.459C>T (p.Asn153=) | Hereditary cancer-predisposing syndrome [RCV003278229] | likely benign | 10 | 102592586 | 102592586 | Human | 1 | name |
| 401755044 | CV2732540 | single nucleotide variant | NM_016169.4(SUFU):c.612C>T (p.Cys204=) | Hereditary cancer-predisposing syndrome [RCV003278230] | likely benign | 10 | 102593650 | 102593650 | Human | 1 | name |
| 401859665 | CV2757104 | single nucleotide variant | NM_016169.4(SUFU):c.879C>A (p.Ile293=) | Hereditary cancer-predisposing syndrome [RCV003341957] | likely benign | 10 | 102597262 | 102597262 | Human | 1 | name |
| 401859666 | CV2757105 | single nucleotide variant | NM_016169.4(SUFU):c.71C>T (p.Pro24Leu) | Gorlin syndrome [RCV003777481]|Hereditary cancer-predisposing syndrome [RCV003341958] | uncertain significance | 10 | 102504223 | 102504223 | Human | 3 | name |
| 401869102 | CV2757111 | single nucleotide variant | NM_016169.4(SUFU):c.32G>T (p.Gly11Val) | Hereditary cancer-predisposing syndrome [RCV003360698] | uncertain significance | 10 | 102504184 | 102504184 | Human | 1 | name |
| 401859150 | CV2771422 | single nucleotide variant | NM_016169.4(SUFU):c.573C>G (p.Pro191=) | Gorlin syndrome [RCV005216073]|Hereditary cancer-predisposing syndrome [RCV003357013] | likely benign | 10 | 102592700 | 102592700 | Human | 3 | name |
| 401907737 | CV2809580 | deletion | NM_016169.4(SUFU):c.225del (p.Asn76fs) | not provided [RCV003422841] | pathogenic | 10 | 102509210 | 102509210 | Human | | name |
| 401945463 | CV2836672 | single nucleotide variant | NM_016169.4(SUFU):c.56G>T (p.Gly19Val) | Familial meningioma [RCV003464659] | uncertain significance | 10 | 102504208 | 102504208 | Human | 1 | name |
| 401945465 | CV2836674 | single nucleotide variant | NM_016169.4(SUFU):c.59C>G (p.Pro20Arg) | Familial meningioma [RCV003464660]|Hereditary cancer-predisposing syndrome [RCV004673897] | uncertain significance | 10 | 102504211 | 102504211 | Human | 2 | name |
| 401962336 | CV2843123 | single nucleotide variant | NM_016169.4(SUFU):c.369T>C (p.Arg123=) | Hereditary cancer-predisposing syndrome [RCV004364820]|not provided [RCV003477383] | likely benign|uncertain significance | 10 | 102550021 | 102550021 | Human | 1 | name |
| 405022412 | CV3081828 | single nucleotide variant | NM_016169.4(SUFU):c.978A>G (p.Pro326=) | Gorlin syndrome [RCV003785434] | likely benign | 10 | 102599500 | 102599500 | Human | 2 | name |
| 404985911 | CV3083565 | single nucleotide variant | NM_016169.4(SUFU):c.68C>G (p.Pro23Arg) | Familial meningioma [RCV004573314]|Gorlin syndrome [RCV003781915] | uncertain significance | 10 | 102504220 | 102504220 | Human | 3 | name |
| 404994514 | CV3085283 | single nucleotide variant | NM_016169.4(SUFU):c.34C>T (p.Pro12Ser) | Gorlin syndrome [RCV003782814] | uncertain significance | 10 | 102504186 | 102504186 | Human | 2 | name |
| 402491925 | CV3091124 | single nucleotide variant | NM_016169.4(SUFU):c.70C>A (p.Pro24Thr) | Gorlin syndrome [RCV003787629] | uncertain significance | 10 | 102504222 | 102504222 | Human | 2 | name |
| 405017458 | CV3091606 | single nucleotide variant | NM_016169.4(SUFU):c.876C>T (p.Cys292=) | Gorlin syndrome [RCV003795273] | likely benign | 10 | 102597259 | 102597259 | Human | 2 | name |
| 402493612 | CV3092191 | single nucleotide variant | NM_016169.4(SUFU):c.59C>T (p.Pro20Leu) | Gorlin syndrome [RCV003787810] | uncertain significance | 10 | 102504211 | 102504211 | Human | 2 | name |
| 405031352 | CV3092654 | single nucleotide variant | NM_016169.4(SUFU):c.357G>A (p.Glu119=) | Gorlin syndrome [RCV003786165] | likely benign | 10 | 102550009 | 102550009 | Human | 2 | name |
| 405008235 | CV3096248 | single nucleotide variant | NM_016169.4(SUFU):c.62C>T (p.Thr21Ile) | Gorlin syndrome [RCV003794398] | uncertain significance | 10 | 102504214 | 102504214 | Human | 2 | name |
| 405021225 | CV3101281 | single nucleotide variant | NM_016169.4(SUFU):c.28C>G (p.Pro10Ala) | Gorlin syndrome [RCV003805860] | uncertain significance | 10 | 102504180 | 102504180 | Human | 2 | name |
| 405014864 | CV3106674 | single nucleotide variant | NM_016169.4(SUFU):c.31G>A (p.Gly11Ser) | Gorlin syndrome [RCV003795011] | uncertain significance | 10 | 102504183 | 102504183 | Human | 2 | name |
| 405035811 | CV3108629 | single nucleotide variant | NM_016169.4(SUFU):c.702G>T (p.Leu234=) | Gorlin syndrome [RCV003807087] | likely benign | 10 | 102594011 | 102594011 | Human | 2 | name |
| 405008547 | CV3108988 | single nucleotide variant | NM_016169.4(SUFU):c.777C>A (p.Ile259=) | Gorlin syndrome [RCV003804655] | likely benign | 10 | 102597160 | 102597160 | Human | 2 | name |
| 405155954 | CV3109277 | single nucleotide variant | NM_016169.4(SUFU):c.429C>G (p.Gly143=) | Gorlin syndrome [RCV003801800] | likely benign | 10 | 102550081 | 102550081 | Human | 2 | name |
| 405161060 | CV3109843 | single nucleotide variant | NM_016169.4(SUFU):c.939G>A (p.Arg313=) | Gorlin syndrome [RCV003802202]|Hereditary cancer-predisposing syndrome [RCV004366670] | likely benign | 10 | 102599461 | 102599461 | Human | 3 | name |
| 405110790 | CV3110677 | single nucleotide variant | NM_016169.4(SUFU):c.711C>T (p.Asp237=) | Gorlin syndrome [RCV003813580] | likely benign | 10 | 102594020 | 102594020 | Human | 2 | name |
| 405110797 | CV3110678 | single nucleotide variant | NM_016169.4(SUFU):c.969C>G (p.Val323=) | Gorlin syndrome [RCV003813581]|Hereditary cancer-predisposing syndrome [RCV004950710] | likely benign | 10 | 102599491 | 102599491 | Human | 3 | name |
| 405111256 | CV3110713 | single nucleotide variant | NM_016169.4(SUFU):c.669G>C (p.Leu223=) | Gorlin syndrome [RCV003813616] | likely benign | 10 | 102593707 | 102593707 | Human | 2 | name |
| 405109934 | CV3112591 | single nucleotide variant | NM_016169.4(SUFU):c.624A>C (p.Leu208=) | Gorlin syndrome [RCV003813434] | likely benign | 10 | 102593662 | 102593662 | Human | 2 | name |
| 405080032 | CV3114782 | single nucleotide variant | NM_016169.4(SUFU):c.834G>A (p.Leu278=) | Gorlin syndrome [RCV003810345] | likely benign | 10 | 102597217 | 102597217 | Human | 2 | name |
| 11659538 | CV320419 | single nucleotide variant | NM_016169.4(SUFU):c.528C>T (p.His176=) | Gorlin syndrome [RCV001086076]|Hereditary cancer-predisposing syndrome [RCV000567224]|Medulloblastoma [RCV000359058]|not provided [RCV000838398] | benign|likely benign|uncertain significance | 10 | 102592655 | 102592655 | Human | 4 | name |
| 405708128 | CV3384314 | single nucleotide variant | NM_016169.4(SUFU):c.300T>C (p.Gly100=) | Hereditary cancer-predisposing syndrome [RCV004522044] | likely benign | 10 | 102509286 | 102509286 | Human | 1 | name |
| 405708132 | CV3384315 | single nucleotide variant | NM_016169.4(SUFU):c.303C>T (p.Asp101=) | Hereditary cancer-predisposing syndrome [RCV004522045] | likely benign | 10 | 102509289 | 102509289 | Human | 1 | name |
| 405708142 | CV3384316 | single nucleotide variant | NM_016169.4(SUFU):c.35C>G (p.Pro12Arg) | Hereditary cancer-predisposing syndrome [RCV004522046] | uncertain significance | 10 | 102504187 | 102504187 | Human | 1 | name |
| 405708158 | CV3384318 | single nucleotide variant | NM_016169.4(SUFU):c.370C>T (p.Leu124=) | Gorlin syndrome [RCV005216242]|Hereditary cancer-predisposing syndrome [RCV004522048] | likely benign | 10 | 102550022 | 102550022 | Human | 3 | name |
| 405708552 | CV3384320 | single nucleotide variant | NM_016169.4(SUFU):c.393T>C (p.Ser131=) | Hereditary cancer-predisposing syndrome [RCV004522050] | likely benign | 10 | 102550045 | 102550045 | Human | 1 | name |
| 405708187 | CV3384322 | single nucleotide variant | NM_016169.4(SUFU):c.486C>G (p.Ser162=) | Hereditary cancer-predisposing syndrome [RCV004522052] | likely benign | 10 | 102592613 | 102592613 | Human | 1 | name |
| 405708202 | CV3384324 | single nucleotide variant | NM_016169.4(SUFU):c.50C>G (p.Ala17Gly) | Hereditary cancer-predisposing syndrome [RCV004522054] | uncertain significance | 10 | 102504202 | 102504202 | Human | 1 | name |
| 405708226 | CV3384328 | single nucleotide variant | NM_016169.4(SUFU):c.789C>T (p.Gly263=) | Gorlin syndrome [RCV005216243]|Hereditary cancer-predisposing syndrome [RCV004522058] | likely benign | 10 | 102597172 | 102597172 | Human | 3 | name |
| 405708233 | CV3384329 | single nucleotide variant | NM_016169.4(SUFU):c.813C>T (p.Ala271=) | Hereditary cancer-predisposing syndrome [RCV004522059] | likely benign | 10 | 102597196 | 102597196 | Human | 1 | name |
| 407497058 | CV3481809 | single nucleotide variant | NM_016169.4(SUFU):c.95C>A (p.Pro32Gln) | Hereditary cancer-predisposing syndrome [RCV004668294] | uncertain significance | 10 | 102504247 | 102504247 | Human | 1 | name |
| 407497086 | CV3481818 | single nucleotide variant | NM_016169.4(SUFU):c.873C>A (p.Ile291=) | Hereditary cancer-predisposing syndrome [RCV004668301] | likely benign | 10 | 102597256 | 102597256 | Human | 1 | name |
| 407497097 | CV3481824 | single nucleotide variant | NM_016169.4(SUFU):c.573C>A (p.Pro191=) | Hereditary cancer-predisposing syndrome [RCV004668304] | likely benign | 10 | 102592700 | 102592700 | Human | 1 | name |
| 407530194 | CV3481827 | single nucleotide variant | NM_016169.4(SUFU):c.420A>G (p.Leu140=) | Hereditary cancer-predisposing syndrome [RCV004681738] | likely benign | 10 | 102550072 | 102550072 | Human | 1 | name |
| 408390617 | CV3527643 | single nucleotide variant | NM_016169.4(SUFU):c.50C>A (p.Ala17Asp) | not provided [RCV004774911] | uncertain significance | 10 | 102504202 | 102504202 | Human | | name |
| 597671336 | CV3611874 | single nucleotide variant | NM_016169.4(SUFU):c.867G>A (p.Arg289=) | Gorlin syndrome [RCV005218371]|Hereditary cancer-predisposing syndrome [RCV004949242] | likely benign | 10 | 102597250 | 102597250 | Human | 3 | name |
| 597671352 | CV3611876 | single nucleotide variant | NM_016169.4(SUFU):c.549A>G (p.Pro183=) | Hereditary cancer-predisposing syndrome [RCV004949244] | likely benign | 10 | 102592676 | 102592676 | Human | 1 | name |
| 597671418 | CV3611885 | single nucleotide variant | NM_016169.4(SUFU):c.534G>T (p.Leu178=) | Hereditary cancer-predisposing syndrome [RCV004949253] | likely benign | 10 | 102592661 | 102592661 | Human | 1 | name |
| 597671426 | CV3611886 | single nucleotide variant | NM_016169.4(SUFU):c.648G>A (p.Gly216=) | Hereditary cancer-predisposing syndrome [RCV004949254] | likely benign | 10 | 102593686 | 102593686 | Human | 1 | name |
| 597671432 | CV3611887 | single nucleotide variant | NM_016169.4(SUFU):c.35C>T (p.Pro12Leu) | Hereditary cancer-predisposing syndrome [RCV004949255] | uncertain significance | 10 | 102504187 | 102504187 | Human | 1 | name |
| 597671460 | CV3611892 | single nucleotide variant | NM_016169.4(SUFU):c.684T>C (p.Ile228=) | Hereditary cancer-predisposing syndrome [RCV004949259] | likely benign | 10 | 102593993 | 102593993 | Human | 1 | name |
| 597671468 | CV3611893 | single nucleotide variant | NM_016169.4(SUFU):c.751C>T (p.Leu251=) | Hereditary cancer-predisposing syndrome [RCV004949260] | likely benign | 10 | 102594060 | 102594060 | Human | 1 | name |
| 597671486 | CV3611895 | single nucleotide variant | NM_016169.4(SUFU):c.98G>A (p.Gly33Glu) | Hereditary cancer-predisposing syndrome [RCV004949262] | uncertain significance | 10 | 102504250 | 102504250 | Human | 1 | name |
| 597671550 | CV3611903 | single nucleotide variant | NM_016169.4(SUFU):c.507C>T (p.Asn169=) | Hereditary cancer-predisposing syndrome [RCV004949270] | likely benign | 10 | 102592634 | 102592634 | Human | 1 | name |
| 597835094 | CV3864406 | single nucleotide variant | NM_016169.4(SUFU):c.384T>C (p.Thr128=) | Gorlin syndrome [RCV005210042] | likely benign | 10 | 102550036 | 102550036 | Human | 2 | name |
| 597859274 | CV3864900 | deletion | NM_016169.4(SUFU):c.1157+11_1157+12del | Gorlin syndrome [RCV005213957] | likely benign | 10 | 102615412 | 102615413 | Human | 2 | name |
| 597882994 | CV3865856 | single nucleotide variant | NM_016169.4(SUFU):c.618A>G (p.Glu206=) | Gorlin syndrome [RCV005217521] | likely benign | 10 | 102593656 | 102593656 | Human | 2 | name |
| 597875081 | CV3874909 | single nucleotide variant | NM_016169.4(SUFU):c.666G>A (p.Leu222=) | Gorlin syndrome [RCV005216385] | likely benign | 10 | 102593704 | 102593704 | Human | 2 | name |
| 598221271 | CV3916263 | single nucleotide variant | NM_016169.4(SUFU):c.29C>T (p.Pro10Leu) | Hereditary cancer-predisposing syndrome [RCV005293603] | uncertain significance | 10 | 102504181 | 102504181 | Human | 1 | name |
| 598221311 | CV3916271 | single nucleotide variant | NM_016169.4(SUFU):c.92C>G (p.Pro31Arg) | Hereditary cancer-predisposing syndrome [RCV005293609] | uncertain significance | 10 | 102504244 | 102504244 | Human | 1 | name |
| 598221318 | CV3916273 | single nucleotide variant | NM_016169.4(SUFU):c.934C>T (p.Leu312=) | Hereditary cancer-predisposing syndrome [RCV005293610] | likely benign | 10 | 102599456 | 102599456 | Human | 1 | name |
| 12890272 | CV397073 | single nucleotide variant | NM_016169.4(SUFU):c.65C>G (p.Ala22Gly) | Gorlin syndrome [RCV000474319]|Hereditary cancer-predisposing syndrome [RCV002365622] | benign|uncertain significance | 10 | 102504217 | 102504217 | Human | 3 | name |
| 12892389 | CV397095 | single nucleotide variant | NM_016169.4(SUFU):c.987T>C (p.Pro329=) | Gorlin syndrome [RCV000468120]|Hereditary cancer-predisposing syndrome [RCV002383868] | likely benign | 10 | 102599509 | 102599509 | Human | 3 | name |
| 12882086 | CV397349 | single nucleotide variant | NM_016169.4(SUFU):c.537G>A (p.Leu179=) | Gorlin syndrome [RCV000458989]|Hereditary cancer-predisposing syndrome [RCV001024006]|not provided [RCV001547599] | likely benign | 10 | 102592664 | 102592664 | Human | 3 | name |
| 12883529 | CV397350 | single nucleotide variant | NM_016169.4(SUFU):c.597G>A (p.Gln199=) | Gorlin syndrome [RCV000461774] | uncertain significance | 10 | 102592724 | 102592724 | Human | 2 | name |
| 12883947 | CV397351 | single nucleotide variant | NM_016169.4(SUFU):c.832C>T (p.Leu278=) | Gorlin syndrome [RCV000462570]|Hereditary cancer-predisposing syndrome [RCV001017559] | likely benign | 10 | 102597215 | 102597215 | Human | 3 | name |
| 12890608 | CV397531 | single nucleotide variant | NM_016169.4(SUFU):c.879C>T (p.Ile293=) | Gorlin syndrome [RCV001400946]|Hereditary cancer-predisposing syndrome [RCV001018347]|SUFU-related disorder [RCV004551544] | likely benign | 10 | 102597262 | 102597262 | Human | 4 | name , alternate_id |
| 12892550 | CV397637 | single nucleotide variant | NM_016169.4(SUFU):c.50C>T (p.Ala17Val) | Gorlin syndrome [RCV000475558]|Gorlin syndrome [RCV002291643]|Hereditary cancer-predisposing syndrome [RCV000573813]|Medulloblastoma [RCV001106674]|not provided [RCV002293445] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 10 | 102504202 | 102504202 | Human | 4 | name |
| 12884196 | CV397640 | duplication | NM_016169.4(SUFU):c.171dup (p.Val58fs) | Gorlin syndrome [RCV000463016] | pathogenic | 10 | 102504322 | 102504323 | Human | 2 | name |
| 12888782 | CV397646 | single nucleotide variant | NM_016169.4(SUFU):c.600C>T (p.Ile200=) | Familial meningioma [RCV003316587]|Gorlin syndrome [RCV001081771]|Hereditary cancer-predisposing syndrome [RCV000568542]|Medulloblastoma [RCV001108833]|Medulloblastoma [RCV005398653]|not provided [RCV000732323]|not specified [RCV000507081] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 10 | 102593638 | 102593638 | Human | 5 | name |
| 13502485 | CV459617 | single nucleotide variant | NM_016169.4(SUFU):c.690C>T (p.Gly230=) | Gorlin syndrome [RCV000542060]|Hereditary cancer-predisposing syndrome [RCV001025793]|Medulloblastoma [RCV005398765] | likely benign | 10 | 102593999 | 102593999 | Human | 4 | name |
| 13472533 | CV459839 | single nucleotide variant | NM_016169.4(SUFU):c.678G>A (p.Val226=) | Gorlin syndrome [RCV000524950]|Hereditary cancer-predisposing syndrome [RCV001025648] | likely benign | 10 | 102593716 | 102593716 | Human | 3 | name |
| 13485591 | CV459842 | single nucleotide variant | NM_016169.4(SUFU):c.715C>A (p.Arg239=) | Gorlin syndrome [RCV000530833]|Hereditary cancer-predisposing syndrome [RCV002367757] | likely benign | 10 | 102594024 | 102594024 | Human | 3 | name |
| 13493353 | CV460058 | single nucleotide variant | NM_016169.4(SUFU):c.43C>A (p.Pro15Thr) | Familial meningioma [RCV004568693]|Gorlin syndrome [RCV000535620]|Hereditary cancer-predisposing syndrome [RCV001022422]|Joubert syndrome 32 [RCV001292713]|not provided [RCV003329291] | uncertain significance | 10 | 102504195 | 102504195 | Human | 5 | name |
| 13492273 | CV460066 | single nucleotide variant | NM_016169.4(SUFU):c.603T>C (p.Val201=) | Gorlin syndrome [RCV000534828]|Hereditary cancer-predisposing syndrome [RCV002358429] | likely benign | 10 | 102593641 | 102593641 | Human | 3 | name |
| 13472629 | CV460489 | single nucleotide variant | NM_016169.4(SUFU):c.615T>C (p.Thr205=) | Gorlin syndrome [RCV000547433]|Hereditary cancer-predisposing syndrome [RCV001024963] | likely benign | 10 | 102593653 | 102593653 | Human | 3 | name |
| 13479560 | CV460493 | single nucleotide variant | NM_016169.4(SUFU):c.645C>T (p.Asn215=) | Familial meningioma [RCV003316669]|Gorlin syndrome [RCV000528157]|Hereditary cancer-predisposing syndrome [RCV001025288]|not provided [RCV003424084]|not specified [RCV005231010] | benign|likely benign | 10 | 102593683 | 102593683 | Human | 4 | name |
| 13500969 | CV460500 | single nucleotide variant | NM_016169.4(SUFU):c.666G>T (p.Leu222=) | Gorlin syndrome [RCV000540739]|Hereditary cancer-predisposing syndrome [RCV001025517]|not provided [RCV003736802] | likely benign | 10 | 102593704 | 102593704 | Human | 3 | name |
| 13492310 | CV460507 | single nucleotide variant | NM_016169.4(SUFU):c.855C>T (p.Asp285=) | Gorlin syndrome [RCV000557352]|Hereditary cancer-predisposing syndrome [RCV001018000]|not provided [RCV003992316]|not specified [RCV002476075] | benign|likely benign | 10 | 102597238 | 102597238 | Human | 3 | name |
| 13501576 | CV475061 | single nucleotide variant | NM_016169.4(SUFU):c.67C>T (p.Pro23Ser) | Gorlin syndrome [RCV000821320]|Hereditary cancer-predisposing syndrome [RCV000574522]|not provided [RCV003325496] | benign|uncertain significance | 10 | 102504219 | 102504219 | Human | 3 | name |
| 13476070 | CV475063 | single nucleotide variant | NM_016169.4(SUFU):c.873C>T (p.Ile291=) | Gorlin syndrome [RCV000876921]|Hereditary cancer-predisposing syndrome [RCV000565127]|not specified [RCV005231109] | likely benign | 10 | 102597256 | 102597256 | Human | 3 | name |
| 13608399 | CV524881 | single nucleotide variant | NM_016169.4(SUFU):c.91C>G (p.Pro31Ala) | Gorlin syndrome [RCV000628504] | uncertain significance | 10 | 102504243 | 102504243 | Human | 2 | name |
| 13608461 | CV524894 | single nucleotide variant | NM_016169.4(SUFU):c.411C>T (p.Pro137=) | Gorlin syndrome [RCV000628525]|Hereditary cancer-predisposing syndrome [RCV002325190] | likely benign | 10 | 102550063 | 102550063 | Human | 3 | name |
| 13608421 | CV525125 | single nucleotide variant | NM_016169.4(SUFU):c.849G>A (p.Glu283=) | Gorlin syndrome [RCV000628511]|Hereditary cancer-predisposing syndrome [RCV002448922]|not provided [RCV003424196] | likely benign|uncertain significance | 10 | 102597232 | 102597232 | Human | 3 | name |
| 13608450 | CV525126 | single nucleotide variant | NM_016169.4(SUFU):c.894G>T (p.Arg298=) | Gorlin syndrome [RCV001425629]|Hereditary cancer-predisposing syndrome [RCV002257864] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 10 | 102597277 | 102597277 | Human | 3 | name |
| 13608443 | CV525263 | single nucleotide variant | NM_016169.4(SUFU):c.807C>T (p.Val269=) | Gorlin syndrome [RCV001406908]|Hereditary cancer-predisposing syndrome [RCV002420667]|not specified [RCV003488740] | likely benign | 10 | 102597190 | 102597190 | Human | 3 | name |
| 13608414 | CV525448 | single nucleotide variant | NM_016169.4(SUFU):c.55G>A (p.Gly19Ser) | Gorlin syndrome [RCV000628509]|Hereditary cancer-predisposing syndrome [RCV002343186] | uncertain significance | 10 | 102504207 | 102504207 | Human | 3 | name |
| 13817473 | CV564461 | single nucleotide variant | NM_016169.4(SUFU):c.32G>A (p.Gly11Asp) | Gorlin syndrome [RCV000707040]|Hereditary cancer-predisposing syndrome [RCV002458322]|Medulloblastoma [RCV005027879]|not provided [RCV004768598] | uncertain significance | 10 | 102504184 | 102504184 | Human | 4 | name |
| 14718322 | CV638674 | single nucleotide variant | NM_016169.4(SUFU):c.65C>T (p.Ala22Val) | Gorlin syndrome [RCV000795767]|Hereditary cancer-predisposing syndrome [RCV004027536] | uncertain significance | 10 | 102504217 | 102504217 | Human | 3 | name |
| 15151452 | CV687581 | single nucleotide variant | NM_016169.4(SUFU):c.300T>A (p.Gly100=) | Gorlin syndrome [RCV000867247]|Hereditary cancer-predisposing syndrome [RCV001018025] | likely benign | 10 | 102509286 | 102509286 | Human | 3 | name |
| 15141613 | CV687582 | single nucleotide variant | NM_016169.4(SUFU):c.405A>G (p.Thr135=) | Gorlin syndrome [RCV001402277]|Hereditary cancer-predisposing syndrome [RCV002319971] | likely benign | 10 | 102550057 | 102550057 | Human | 3 | name |
| 15152840 | CV687583 | single nucleotide variant | NM_016169.4(SUFU):c.573C>T (p.Pro191=) | Gorlin syndrome [RCV001499649]|Hereditary cancer-predisposing syndrome [RCV003169142]|not provided [RCV004569800] | likely benign | 10 | 102592700 | 102592700 | Human | 3 | name |
| 15150657 | CV687584 | single nucleotide variant | NM_016169.4(SUFU):c.579G>A (p.Gly193=) | Gorlin syndrome [RCV000867093]|Hereditary cancer-predisposing syndrome [RCV004669157] | likely benign | 10 | 102592706 | 102592706 | Human | 3 | name |
| 15141606 | CV692763 | single nucleotide variant | NM_016169.4(SUFU):c.474G>A (p.Gly158=) | Gorlin syndrome [RCV000877705]|Hereditary cancer-predisposing syndrome [RCV002336861]|SUFU-related disorder [RCV004549993]|not provided [RCV003478567] | benign|likely benign | 10 | 102592601 | 102592601 | Human | 4 | name , alternate_id |
| 15120293 | CV692764 | single nucleotide variant | NM_016169.4(SUFU):c.561C>G (p.Pro187=) | Gorlin syndrome [RCV001500042]|Hereditary cancer-predisposing syndrome [RCV001024331] | likely benign | 10 | 102592688 | 102592688 | Human | 3 | name |
| 15183945 | CV701150 | single nucleotide variant | NM_016169.4(SUFU):c.726G>A (p.Glu242=) | Gorlin syndrome [RCV000952585]|Hereditary cancer-predisposing syndrome [RCV002382183] | likely benign | 10 | 102594035 | 102594035 | Human | 3 | name |
| 15169943 | CV723735 | single nucleotide variant | NM_016169.4(SUFU):c.831C>T (p.Asp277=) | Gorlin syndrome [RCV000883375]|Hereditary cancer-predisposing syndrome [RCV002427238] | likely benign | 10 | 102597214 | 102597214 | Human | 3 | name |
| 15125589 | CV737312 | single nucleotide variant | NM_016169.4(SUFU):c.846C>T (p.Pro282=) | Gorlin syndrome [RCV000896789]|Hereditary cancer-predisposing syndrome [RCV002444990] | likely benign | 10 | 102597229 | 102597229 | Human | 3 | name |
| 15133286 | CV751924 | single nucleotide variant | NM_016169.4(SUFU):c.639G>A (p.Gln213=) | Gorlin syndrome [RCV001493964] | likely benign | 10 | 102593677 | 102593677 | Human | 2 | name |
| 15184481 | CV767597 | single nucleotide variant | NM_016169.4(SUFU):c.441C>T (p.Tyr147=) | Gorlin syndrome [RCV000930818]|Hereditary cancer-predisposing syndrome [RCV002332902] | likely benign | 10 | 102550093 | 102550093 | Human | 3 | name |
| 15202587 | CV767598 | single nucleotide variant | NM_016169.4(SUFU):c.444G>A (p.Val148=) | Gorlin syndrome [RCV001447936]|Hereditary cancer-predisposing syndrome [RCV002332916] | likely benign | 10 | 102550096 | 102550096 | Human | 3 | name |
| 15197537 | CV767599 | single nucleotide variant | NM_016169.4(SUFU):c.870C>T (p.Ser290=) | Gorlin syndrome [RCV001399317]|Hereditary cancer-predisposing syndrome [RCV002372603] | likely benign | 10 | 102597253 | 102597253 | Human | 3 | name |
| 15104460 | CV767600 | single nucleotide variant | NM_016169.4(SUFU):c.891C>G (p.Pro297=) | Gorlin syndrome [RCV001435471]|Hereditary cancer-predisposing syndrome [RCV002372613] | likely benign | 10 | 102597274 | 102597274 | Human | 3 | name |
| 15107963 | CV783524 | single nucleotide variant | NM_016169.4(SUFU):c.561C>T (p.Pro187=) | Gorlin syndrome [RCV000976938]|Hereditary cancer-predisposing syndrome [RCV001024332] | likely benign | 10 | 102592688 | 102592688 | Human | 3 | name |
| 15145973 | CV783525 | single nucleotide variant | NM_016169.4(SUFU):c.693C>A (p.Gly231=) | Gorlin syndrome [RCV000983758]|Hereditary cancer-predisposing syndrome [RCV002372701] | likely benign | 10 | 102594002 | 102594002 | Human | 3 | name |
| 21071987 | CV790936 | single nucleotide variant | NM_016169.4(SUFU):c.37A>C (p.Thr13Pro) | Gorlin syndrome [RCV000988446]|Medulloblastoma [RCV005392622]|not provided [RCV003238258] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 10 | 102504189 | 102504189 | Human | 3 | name |
| 25317887 | CV809809 | single nucleotide variant | NM_016169.4(SUFU):c.38C>T (p.Thr13Ile) | Familial meningioma [RCV003467661]|Gorlin syndrome [RCV001054304]|Hereditary cancer-predisposing syndrome [RCV001021386]|not provided [RCV004773228] | uncertain significance | 10 | 102504190 | 102504190 | Human | 4 | name |
| 25324002 | CV809810 | single nucleotide variant | NM_016169.4(SUFU):c.56G>A (p.Gly19Asp) | Gorlin syndrome [RCV001069906]|Hereditary cancer-predisposing syndrome [RCV001024427] | uncertain significance | 10 | 102504208 | 102504208 | Human | 3 | name |
| 25325869 | CV809811 | single nucleotide variant | NM_016169.4(SUFU):c.70C>G (p.Pro24Ala) | Familial meningioma [RCV003461413]|Gorlin syndrome [RCV001063730]|Hereditary cancer-predisposing syndrome [RCV001026035] | uncertain significance | 10 | 102504222 | 102504222 | Human | 4 | name |
| 25326011 | CV809812 | single nucleotide variant | NM_016169.4(SUFU):c.71C>A (p.Pro24Gln) | Gorlin syndrome [RCV001374122]|Hereditary cancer-predisposing syndrome [RCV001026147] | uncertain significance | 10 | 102504223 | 102504223 | Human | 3 | name |
| 25315827 | CV809813 | single nucleotide variant | NM_016169.4(SUFU):c.98G>C (p.Gly33Ala) | Gorlin syndrome [RCV001370651]|Hereditary cancer-predisposing syndrome [RCV001019877] | uncertain significance | 10 | 102504250 | 102504250 | Human | 3 | name |
| 25317923 | CV809822 | single nucleotide variant | NM_016169.4(SUFU):c.390G>A (p.Glu130=) | Hereditary cancer-predisposing syndrome [RCV001021420] | likely benign | 10 | 102550042 | 102550042 | Human | 1 | name |
| 25324288 | CV809826 | single nucleotide variant | NM_016169.4(SUFU):c.591C>T (p.Phe197=) | Gorlin syndrome [RCV001470047]|Hereditary cancer-predisposing syndrome [RCV001024683] | likely benign | 10 | 102592718 | 102592718 | Human | 3 | name |
| 25326704 | CV809833 | single nucleotide variant | NM_016169.4(SUFU):c.777C>T (p.Ile259=) | Gorlin syndrome [RCV001485550]|Hereditary cancer-predisposing syndrome [RCV001026804] | likely benign | 10 | 102597160 | 102597160 | Human | 3 | name |
| 25329475 | CV809836 | single nucleotide variant | NM_016169.4(SUFU):c.843C>T (p.Pro281=) | Gorlin syndrome [RCV003769503]|Hereditary cancer-predisposing syndrome [RCV001017776] | likely benign | 10 | 102597226 | 102597226 | Human | 3 | name |
| 25329523 | CV809837 | single nucleotide variant | NM_016169.4(SUFU):c.846C>A (p.Pro282=) | Gorlin syndrome [RCV002551802]|Hereditary cancer-predisposing syndrome [RCV001017850] | likely benign | 10 | 102597229 | 102597229 | Human | 3 | name |
| 25314912 | CV809846 | single nucleotide variant | NM_016169.4(SUFU):c.933C>A (p.Thr311=) | Gorlin syndrome [RCV001452534]|Hereditary cancer-predisposing syndrome [RCV001019186]|SUFU-related disorder [RCV004553558] | likely benign | 10 | 102599455 | 102599455 | Human | 4 | name , alternate_id |
| 25315266 | CV809849 | single nucleotide variant | NM_016169.4(SUFU):c.948C>G (p.Leu316=) | Gorlin syndrome [RCV001440936]|Hereditary cancer-predisposing syndrome [RCV001019398] | likely benign | 10 | 102599470 | 102599470 | Human | 3 | name |
| 25315373 | CV809851 | single nucleotide variant | NM_016169.4(SUFU):c.957C>T (p.Asn319=) | Hereditary cancer-predisposing syndrome [RCV001019505] | likely benign | 10 | 102599479 | 102599479 | Human | 1 | name |
| 25315645 | CV809853 | single nucleotide variant | NM_016169.4(SUFU):c.975A>G (p.Pro325=) | Gorlin syndrome [RCV003769518]|Hereditary cancer-predisposing syndrome [RCV001019721] | likely benign | 10 | 102599497 | 102599497 | Human | 3 | name |
| 26890422 | CV836566 | single nucleotide variant | NM_016169.4(SUFU):c.86T>G (p.Leu29Arg) | Familial meningioma [RCV004570151]|Gorlin syndrome [RCV001046021]|Hereditary cancer-predisposing syndrome [RCV002372793] | uncertain significance | 10 | 102504238 | 102504238 | Human | 4 | name |
| 26923551 | CV836569 | duplication | NM_016169.4(SUFU):c.124dup (p.Arg42fs) | Gorlin syndrome [RCV001064195] | pathogenic | 10 | 102504274 | 102504275 | Human | 2 | name |
| 26923533 | CV852543 | deletion | NM_016169.4(SUFU):c.1296+4_1296+459del | Gorlin syndrome [RCV001064159] | uncertain significance | 10 | 102617428 | 102617883 | Human | 2 | name |
| 28910037 | CV865295 | single nucleotide variant | NM_016169.4(SUFU):c.696C>G (p.Pro232=) | Medulloblastoma [RCV001108834] | uncertain significance | 10 | 102594005 | 102594005 | Human | 2 | name |
| 38488509 | CV925726 | single nucleotide variant | NM_016169.4(SUFU):c.429C>T (p.Gly143=) | Gorlin syndrome [RCV001221265] | likely benign|uncertain significance | 10 | 102550081 | 102550081 | Human | 2 | name |
| 38490298 | CV934926 | single nucleotide variant | NM_016169.4(SUFU):c.46C>A (p.Pro16Thr) | Gorlin syndrome [RCV001210588]|Hereditary cancer-predisposing syndrome [RCV002339543]|not provided [RCV001574638] | uncertain significance | 10 | 102504198 | 102504198 | Human | 3 | name |
| 38470265 | CV934927 | single nucleotide variant | NM_016169.4(SUFU):c.79G>A (p.Ala27Thr) | Gorlin syndrome [RCV001213520]|Hereditary cancer-predisposing syndrome [RCV002418731] | uncertain significance | 10 | 102504231 | 102504231 | Human | 3 | name |
| 38496332 | CV955968 | single nucleotide variant | NM_016169.4(SUFU):c.70C>T (p.Pro24Ser) | Gorlin syndrome [RCV001242490]|Hereditary cancer-predisposing syndrome [RCV002366068] | uncertain significance | 10 | 102504222 | 102504222 | Human | 3 | name |
| 126756747 | CV993675 | single nucleotide variant | NM_016169.4(SUFU):c.65C>A (p.Ala22Asp) | Gorlin syndrome [RCV001308204]|Hereditary cancer-predisposing syndrome [RCV002366155] | uncertain significance | 10 | 102504217 | 102504217 | Human | 3 | name |
| 151823155 | CV1352160 | single nucleotide variant | NM_016169.4(SUFU):c.124C>T (p.Arg42Cys) | Gorlin syndrome [RCV002013592] | uncertain significance | 10 | 102504276 | 102504276 | Human | 2 | name |
| 151797731 | CV1352649 | single nucleotide variant | NM_016169.4(SUFU):c.217A>C (p.Met73Leu) | Gorlin syndrome [RCV001877097]|Hereditary cancer-predisposing syndrome [RCV002425149] | uncertain significance | 10 | 102509203 | 102509203 | Human | 3 | name |
| 151832163 | CV1356077 | single nucleotide variant | NM_016169.4(SUFU):c.272T>A (p.Ile91Asn) | Gorlin syndrome [RCV002030911] | uncertain significance | 10 | 102509258 | 102509258 | Human | 2 | name |
| 151867802 | CV1366603 | single nucleotide variant | NM_016169.4(SUFU):c.157C>T (p.Gln53Ter) | Gorlin syndrome [RCV001939385] | pathogenic | 10 | 102504309 | 102504309 | Human | 2 | name |
| 151880904 | CV1406026 | single nucleotide variant | NM_016169.4(SUFU):c.137C>T (p.Pro46Leu) | Gorlin syndrome [RCV001941017]|Hereditary cancer-predisposing syndrome [RCV004042034] | uncertain significance | 10 | 102504289 | 102504289 | Human | 3 | name |
| 151847090 | CV1409417 | single nucleotide variant | NM_016169.4(SUFU):c.217A>T (p.Met73Leu) | Gorlin syndrome [RCV001882095]|Hereditary cancer-predisposing syndrome [RCV004946835] | uncertain significance | 10 | 102509203 | 102509203 | Human | 3 | name |
| 151777669 | CV1411784 | duplication | NM_016169.4(SUFU):c.576dup (p.Gly193fs) | Gorlin syndrome [RCV001930130] | pathogenic | 10 | 102592700 | 102592701 | Human | 2 | name |
| 151821296 | CV1425655 | single nucleotide variant | NM_016169.4(SUFU):c.247A>C (p.Asn83His) | Gorlin syndrome [RCV001954786] | uncertain significance | 10 | 102509233 | 102509233 | Human | 2 | name |
| 151842519 | CV1446109 | single nucleotide variant | NM_016169.4(SUFU):c.253C>G (p.Pro85Ala) | Gorlin syndrome [RCV001956924] | uncertain significance | 10 | 102509239 | 102509239 | Human | 2 | name |
| 151866084 | CV1456267 | single nucleotide variant | NM_016169.4(SUFU):c.160G>A (p.Val54Ile) | Gorlin syndrome [RCV002035071] | uncertain significance | 10 | 102504312 | 102504312 | Human | 2 | name |
| 151854947 | CV1466199 | single nucleotide variant | NM_016169.4(SUFU):c.247A>G (p.Asn83Asp) | Familial meningioma [RCV004571478]|Gorlin syndrome [RCV001883219]|Hereditary cancer-predisposing syndrome [RCV002449515] | likely benign|uncertain significance | 10 | 102509233 | 102509233 | Human | 4 | name |
| 151832235 | CV1487967 | single nucleotide variant | NM_016169.4(SUFU):c.287G>C (p.Ser96Thr) | Gorlin syndrome [RCV001955788]|Hereditary cancer-predisposing syndrome [RCV004671560] | uncertain significance | 10 | 102509273 | 102509273 | Human | 3 | name |
| 151800162 | CV1509445 | single nucleotide variant | NM_016169.4(SUFU):c.236G>C (p.Ser79Thr) | Gorlin syndrome [RCV001867052] | uncertain significance | 10 | 102509222 | 102509222 | Human | 2 | name |
| 151890097 | CV1514560 | single nucleotide variant | NM_016169.4(SUFU):c.173T>A (p.Val58Asp) | Gorlin syndrome [RCV001963561] | uncertain significance | 10 | 102504325 | 102504325 | Human | 2 | name |
| 152106591 | CV1527398 | single nucleotide variant | NM_016169.4(SUFU):c.1056C>A (p.Ser352=) | Gorlin syndrome [RCV002079689]|Hereditary cancer-predisposing syndrome [RCV003161556] | likely benign | 10 | 102615301 | 102615301 | Human | 3 | name |
| 152069805 | CV1535490 | single nucleotide variant | NM_016169.4(SUFU):c.1176A>G (p.Gly392=) | Gorlin syndrome [RCV002091430]|Hereditary cancer-predisposing syndrome [RCV002256914] | likely benign | 10 | 102617308 | 102617308 | Human | 3 | name |
| 152110668 | CV1537027 | single nucleotide variant | NM_016169.4(SUFU):c.1452C>T (p.His484=) | Gorlin syndrome [RCV002215440]|Hereditary cancer-predisposing syndrome [RCV002391205] | likely benign | 10 | 102630152 | 102630152 | Human | 3 | name |
| 152139998 | CV1551172 | single nucleotide variant | NM_016169.4(SUFU):c.1287C>G (p.Pro429=) | Gorlin syndrome [RCV002177930]|Hereditary cancer-predisposing syndrome [RCV004045074] | likely benign | 10 | 102617419 | 102617419 | Human | 3 | name |
| 152084019 | CV1576939 | single nucleotide variant | NM_016169.4(SUFU):c.1293A>G (p.Leu431=) | Gorlin syndrome [RCV002193393] | likely benign | 10 | 102617425 | 102617425 | Human | 2 | name |
| 152170200 | CV1592308 | single nucleotide variant | NM_016169.4(SUFU):c.1185T>C (p.Phe395=) | Gorlin syndrome [RCV002161690] | likely benign | 10 | 102617317 | 102617317 | Human | 2 | name |
| 152134844 | CV1646785 | single nucleotide variant | NM_016169.4(SUFU):c.1398A>G (p.Glu466=) | Gorlin syndrome [RCV002137400]|Hereditary cancer-predisposing syndrome [RCV002391271] | likely benign | 10 | 102630098 | 102630098 | Human | 3 | name |
| 152079648 | CV1666817 | single nucleotide variant | NM_016169.4(SUFU):c.134A>T (p.Tyr45Phe) | Gorlin syndrome [RCV003774632]|Hereditary cancer-predisposing syndrome [RCV003308061]|not provided [RCV002211162] | uncertain significance | 10 | 102504286 | 102504286 | Human | 3 | name |
| 153001502 | CV1684323 | single nucleotide variant | NM_016169.4(SUFU):c.118G>A (p.Glu40Lys) | Gorlin syndrome [RCV005225581]|Hereditary cancer-predisposing syndrome [RCV002256965] | uncertain significance | 10 | 102504270 | 102504270 | Human | 3 | name |
| 153346892 | CV1694258 | duplication | NM_016169.4(SUFU):c.555dup (p.Gln186fs) | Neurodevelopmental disorder [RCV002277674] | likely pathogenic | 10 | 102592681 | 102592682 | Human | 1 | name |
| 155749812 | CV1772533 | single nucleotide variant | NM_016169.4(SUFU):c.172G>A (p.Val58Ile) | Gorlin syndrome [RCV002305045] | uncertain significance | 10 | 102504324 | 102504324 | Human | 2 | name |
| 155665497 | CV1773324 | single nucleotide variant | NM_016169.4(SUFU):c.238C>A (p.Pro80Thr) | Gorlin syndrome [RCV002297036] | uncertain significance | 10 | 102509224 | 102509224 | Human | 2 | name |
| 155684291 | CV1776874 | single nucleotide variant | NM_016169.4(SUFU):c.106G>A (p.Ala36Thr) | Gorlin syndrome [RCV002298398] | uncertain significance | 10 | 102504258 | 102504258 | Human | 2 | name |
| 155724470 | CV1790826 | single nucleotide variant | NM_016169.4(SUFU):c.1167C>T (p.Leu389=) | Gorlin syndrome [RCV003102534]|Hereditary cancer-predisposing syndrome [RCV002327704] | likely benign | 10 | 102617299 | 102617299 | Human | 3 | name |
| 155742145 | CV1791262 | single nucleotide variant | NM_016169.4(SUFU):c.1173T>C (p.His391=) | Hereditary cancer-predisposing syndrome [RCV002333648] | likely benign | 10 | 102617305 | 102617305 | Human | 1 | name |
| 155692712 | CV1794908 | single nucleotide variant | NM_016169.4(SUFU):c.112T>C (p.Tyr38His) | Hereditary cancer-predisposing syndrome [RCV002320672] | uncertain significance | 10 | 102504264 | 102504264 | Human | 1 | name |
| 155738421 | CV1797898 | single nucleotide variant | NM_016169.4(SUFU):c.1170G>A (p.Leu390=) | Hereditary cancer-predisposing syndrome [RCV002331866] | likely benign | 10 | 102617302 | 102617302 | Human | 1 | name |
| 155740122 | CV1802261 | single nucleotide variant | NM_016169.4(SUFU):c.1188A>G (p.Thr396=) | Hereditary cancer-predisposing syndrome [RCV002332399] | likely benign | 10 | 102617320 | 102617320 | Human | 1 | name |
| 155710180 | CV1811602 | single nucleotide variant | NM_016169.4(SUFU):c.1221G>T (p.Thr407=) | Hereditary cancer-predisposing syndrome [RCV002361542] | likely benign | 10 | 102617353 | 102617353 | Human | 1 | name |
| 155726456 | CV1811986 | single nucleotide variant | NM_016169.4(SUFU):c.1227C>T (p.Val409=) | Hereditary cancer-predisposing syndrome [RCV002364619] | likely benign | 10 | 102617359 | 102617359 | Human | 1 | name |
| 155680183 | CV1815890 | single nucleotide variant | NM_016169.4(SUFU):c.1239G>A (p.Val413=) | Gorlin syndrome [RCV003098505]|Hereditary cancer-predisposing syndrome [RCV002370886] | likely benign | 10 | 102617371 | 102617371 | Human | 3 | name |
| 155696916 | CV1816201 | single nucleotide variant | NM_016169.4(SUFU):c.1245C>G (p.Gly415=) | Hereditary cancer-predisposing syndrome [RCV002393794] | likely benign | 10 | 102617377 | 102617377 | Human | 1 | name |
| 155669144 | CV1821802 | single nucleotide variant | NM_016169.4(SUFU):c.130C>T (p.Leu44Phe) | Gorlin syndrome [RCV003774252]|Hereditary cancer-predisposing syndrome [RCV002385408]|not provided [RCV005416634] | uncertain significance | 10 | 102504282 | 102504282 | Human | 3 | name |
| 155708163 | CV1823214 | single nucleotide variant | NM_016169.4(SUFU):c.1248C>T (p.Ala416=) | Gorlin syndrome [RCV003776420]|Hereditary cancer-predisposing syndrome [RCV002396396] | likely benign | 10 | 102617380 | 102617380 | Human | 3 | name |
| 155732420 | CV1826417 | single nucleotide variant | NM_016169.4(SUFU):c.1356T>C (p.Ser452=) | Hereditary cancer-predisposing syndrome [RCV002383374] | likely benign | 10 | 102627234 | 102627234 | Human | 1 | name |
| 155689568 | CV1826705 | single nucleotide variant | NM_016169.4(SUFU):c.1422G>T (p.Leu474=) | Gorlin syndrome [RCV003095137]|Hereditary cancer-predisposing syndrome [RCV002391855] | likely benign | 10 | 102630122 | 102630122 | Human | 3 | name |
| 155690097 | CV1826784 | single nucleotide variant | NM_016169.4(SUFU):c.1425T>G (p.Pro475=) | Hereditary cancer-predisposing syndrome [RCV002391934] | likely benign | 10 | 102630125 | 102630125 | Human | 1 | name |
| 155691254 | CV1827001 | single nucleotide variant | NM_016169.4(SUFU):c.1434G>T (p.Val478=) | Gorlin syndrome [RCV005227722]|Hereditary cancer-predisposing syndrome [RCV002392151] | likely benign | 10 | 102630134 | 102630134 | Human | 3 | name |
| 155692331 | CV1827448 | single nucleotide variant | NM_016169.4(SUFU):c.1041G>C (p.Leu347=) | Gorlin syndrome [RCV003095277]|Hereditary cancer-predisposing syndrome [RCV002392344] | likely benign | 10 | 102615286 | 102615286 | Human | 3 | name |
| 155675951 | CV1829286 | single nucleotide variant | NM_016169.4(SUFU):c.1332G>A (p.Leu444=) | Hereditary cancer-predisposing syndrome [RCV002387529] | likely benign | 10 | 102627210 | 102627210 | Human | 1 | name |
| 155681513 | CV1829699 | single nucleotide variant | NM_016169.4(SUFU):c.1405C>T (p.Leu469=) | Hereditary cancer-predisposing syndrome [RCV002389364] | likely benign | 10 | 102630105 | 102630105 | Human | 1 | name |
| 155682084 | CV1829787 | single nucleotide variant | NM_016169.4(SUFU):c.140A>C (p.Asp47Ala) | Hereditary cancer-predisposing syndrome [RCV002389452] | likely benign | 10 | 102504292 | 102504292 | Human | 1 | name |
| 155682295 | CV1829819 | single nucleotide variant | NM_016169.4(SUFU):c.1002C>T (p.Gly334=) | Gorlin syndrome [RCV003103676]|Hereditary cancer-predisposing syndrome [RCV002389484] | likely benign | 10 | 102599524 | 102599524 | Human | 3 | name |
| 155682403 | CV1829836 | single nucleotide variant | NM_016169.4(SUFU):c.1410G>A (p.Lys470=) | Hereditary cancer-predisposing syndrome [RCV002389501] | likely benign | 10 | 102630110 | 102630110 | Human | 1 | name |
| 155683200 | CV1830194 | single nucleotide variant | NM_016169.4(SUFU):c.103C>T (p.His35Tyr) | Familial meningioma [RCV003464518]|Gorlin syndrome [RCV003095227]|Hereditary cancer-predisposing syndrome [RCV002389605]|not provided [RCV003313277] | uncertain significance | 10 | 102504255 | 102504255 | Human | 4 | name |
| 155738290 | CV1831987 | single nucleotide variant | NM_016169.4(SUFU):c.1062C>T (p.Ala354=) | Hereditary cancer-predisposing syndrome [RCV002410285] | likely benign | 10 | 102615307 | 102615307 | Human | 1 | name |
| 155669930 | CV1832242 | single nucleotide variant | NM_016169.4(SUFU):c.1314G>A (p.Glu438=) | Hereditary cancer-predisposing syndrome [RCV002385539] | likely benign | 10 | 102627192 | 102627192 | Human | 1 | name |
| 155671026 | CV1832491 | single nucleotide variant | NM_016169.4(SUFU):c.1326A>G (p.Lys442=) | Hereditary cancer-predisposing syndrome [RCV002385789] | likely benign | 10 | 102627204 | 102627204 | Human | 1 | name |
| 155680217 | CV1832831 | single nucleotide variant | NM_016169.4(SUFU):c.1395T>C (p.Pro465=) | Gorlin syndrome [RCV005227719]|Hereditary cancer-predisposing syndrome [RCV002389112] | likely benign | 10 | 102630095 | 102630095 | Human | 3 | name |
| 155680732 | CV1832940 | single nucleotide variant | NM_016169.4(SUFU):c.139G>T (p.Asp47Tyr) | Hereditary cancer-predisposing syndrome [RCV002389221] | uncertain significance | 10 | 102504291 | 102504291 | Human | 1 | name |
| 155731947 | CV1835020 | single nucleotide variant | NM_016169.4(SUFU):c.179A>C (p.Tyr60Ser) | Gorlin syndrome [RCV003100849]|Hereditary cancer-predisposing syndrome [RCV002407836] | uncertain significance | 10 | 102504331 | 102504331 | Human | 3 | name |
| 155746687 | CV1835262 | single nucleotide variant | NM_016169.4(SUFU):c.187G>A (p.Gly63Ser) | Gorlin syndrome [RCV005215896]|Hereditary cancer-predisposing syndrome [RCV002415283]|not provided [RCV004765503] | uncertain significance | 10 | 102509173 | 102509173 | Human | 3 | name |
| 155739301 | CV1835538 | single nucleotide variant | NM_016169.4(SUFU):c.1068T>A (p.Ile356=) | Gorlin syndrome [RCV003774560]|Hereditary cancer-predisposing syndrome [RCV002410609] | likely benign | 10 | 102615313 | 102615313 | Human | 3 | name |
| 155730668 | CV1837128 | single nucleotide variant | NM_016169.4(SUFU):c.152C>G (p.Pro51Arg) | Hereditary cancer-predisposing syndrome [RCV002400847] | uncertain significance | 10 | 102504304 | 102504304 | Human | 1 | name |
| 155730919 | CV1838247 | single nucleotide variant | NM_016169.4(SUFU):c.1059G>C (p.Thr353=) | Hereditary cancer-predisposing syndrome [RCV002407612] | likely benign | 10 | 102615304 | 102615304 | Human | 1 | name |
| 155702213 | CV1838266 | single nucleotide variant | NM_016169.4(SUFU):c.1059G>T (p.Thr353=) | Gorlin syndrome [RCV005215890]|Hereditary cancer-predisposing syndrome [RCV002401687] | likely benign | 10 | 102615304 | 102615304 | Human | 3 | name |
| 155668390 | CV1846593 | single nucleotide variant | NM_016169.4(SUFU):c.1074T>C (p.His358=) | Hereditary cancer-predisposing syndrome [RCV002419562] | likely benign | 10 | 102615319 | 102615319 | Human | 1 | name |
| 155711239 | CV1848428 | single nucleotide variant | NM_016169.4(SUFU):c.245C>T (p.Ala82Val) | Gorlin syndrome [RCV003775260]|Hereditary cancer-predisposing syndrome [RCV002430729] | uncertain significance | 10 | 102509231 | 102509231 | Human | 3 | name |
| 155704307 | CV1849048 | single nucleotide variant | NM_016169.4(SUFU):c.110T>A (p.Ile37Asn) | Hereditary cancer-predisposing syndrome [RCV002428957] | uncertain significance | 10 | 102504262 | 102504262 | Human | 1 | name |
| 155707051 | CV1851090 | single nucleotide variant | NM_016169.4(SUFU):c.230T>C (p.Val77Ala) | Gorlin syndrome [RCV003101731]|Hereditary cancer-predisposing syndrome [RCV002446429] | uncertain significance | 10 | 102509216 | 102509216 | Human | 3 | name |
| 155727323 | CV1851508 | single nucleotide variant | NM_016169.4(SUFU):c.242C>T (p.Ser81Phe) | Hereditary cancer-predisposing syndrome [RCV002450453] | uncertain significance | 10 | 102509228 | 102509228 | Human | 1 | name |
| 155686940 | CV1852755 | single nucleotide variant | NM_016169.4(SUFU):c.280G>A (p.Gly94Ser) | Gorlin syndrome [RCV003775382]|Hereditary cancer-predisposing syndrome [RCV002441694] | uncertain significance | 10 | 102509266 | 102509266 | Human | 3 | name |
| 155686195 | CV1853392 | single nucleotide variant | NM_016169.4(SUFU):c.278T>G (p.Phe93Cys) | Hereditary cancer-predisposing syndrome [RCV002441407] | uncertain significance | 10 | 102509264 | 102509264 | Human | 1 | name |
| 155669132 | CV1856255 | single nucleotide variant | NM_016169.4(SUFU):c.1125G>A (p.Gln375=) | Hereditary cancer-predisposing syndrome [RCV002435957] | likely benign | 10 | 102615370 | 102615370 | Human | 1 | name |
| 155942026 | CV1910305 | single nucleotide variant | NM_016169.4(SUFU):c.1434G>A (p.Val478=) | Gorlin syndrome [RCV002615699]|Hereditary cancer-predisposing syndrome [RCV004949008] | likely benign | 10 | 102630134 | 102630134 | Human | 3 | name |
| 156014968 | CV1912714 | single nucleotide variant | NM_016169.4(SUFU):c.137C>G (p.Pro46Arg) | Familial meningioma [RCV003459754]|Gorlin syndrome [RCV002619099] | uncertain significance | 10 | 102504289 | 102504289 | Human | 3 | name |
| 156202637 | CV1925765 | single nucleotide variant | NM_016169.4(SUFU):c.1134A>G (p.Gly378=) | Gorlin syndrome [RCV002643688] | likely benign | 10 | 102615379 | 102615379 | Human | 2 | name |
| 156138453 | CV2006490 | single nucleotide variant | NM_016169.4(SUFU):c.1233G>A (p.Thr411=) | Gorlin syndrome [RCV002663478]|Hereditary cancer-predisposing syndrome [RCV005281214] | uncertain significance | 10 | 102617365 | 102617365 | Human | 3 | name |
| 156024916 | CV2077992 | single nucleotide variant | NM_016169.4(SUFU):c.1167C>G (p.Leu389=) | Gorlin syndrome [RCV002866788] | likely benign | 10 | 102617299 | 102617299 | Human | 2 | name |
| 155903245 | CV2127093 | single nucleotide variant | NM_016169.4(SUFU):c.1065C>A (p.Ile355=) | Gorlin syndrome [RCV002967549]|Hereditary cancer-predisposing syndrome [RCV004068326] | likely benign | 10 | 102615310 | 102615310 | Human | 3 | name |
| 156033447 | CV2152721 | single nucleotide variant | NM_016169.4(SUFU):c.119A>G (p.Glu40Gly) | Gorlin syndrome [RCV003018772]|Hereditary cancer-predisposing syndrome [RCV004673764] | uncertain significance | 10 | 102504271 | 102504271 | Human | 3 | name |
| 156242905 | CV2189005 | single nucleotide variant | NM_016169.4(SUFU):c.227A>C (p.Asn76Thr) | Gorlin syndrome [RCV003059720] | uncertain significance | 10 | 102509213 | 102509213 | Human | 2 | name |
| 156369855 | CV2190669 | single nucleotide variant | NM_016169.4(SUFU):c.222C>G (p.Tyr74Ter) | Gorlin syndrome [RCV003066202] | pathogenic | 10 | 102509208 | 102509208 | Human | 2 | name |
| 156200717 | CV2192124 | deletion | NM_016169.4(SUFU):c.581del (p.Val194fs) | Gorlin syndrome [RCV003058151] | pathogenic | 10 | 102592708 | 102592708 | Human | 2 | name |
| 156440157 | CV2401848 | deletion | NM_016169.4(SUFU):c.846del (p.Glu283fs) | Congenital fibrosarcoma [RCV003110131]|Gorlin syndrome [RCV005215970] | pathogenic|likely pathogenic | 10 | 102597224 | 102597224 | Human | 3 | name |
| 329386096 | CV2433582 | single nucleotide variant | NM_016169.4(SUFU):c.1149C>T (p.Leu383=) | Gorlin syndrome [RCV003779558]|Hereditary cancer-predisposing syndrome [RCV003177374]|not provided [RCV004598258] | likely benign | 10 | 102615394 | 102615394 | Human | 3 | name |
| 329386099 | CV2433583 | single nucleotide variant | NM_016169.4(SUFU):c.241T>G (p.Ser81Ala) | Hereditary cancer-predisposing syndrome [RCV003177375] | uncertain significance | 10 | 102509227 | 102509227 | Human | 1 | name |
| 329386156 | CV2433604 | single nucleotide variant | NM_016169.4(SUFU):c.109A>C (p.Ile37Leu) | Hereditary cancer-predisposing syndrome [RCV003177396] | uncertain significance | 10 | 102504261 | 102504261 | Human | 1 | name |
| 401755036 | CV2732534 | single nucleotide variant | NM_016169.4(SUFU):c.1269T>G (p.Pro423=) | Hereditary cancer-predisposing syndrome [RCV003278227] | likely benign | 10 | 102617401 | 102617401 | Human | 1 | name |
| 401778484 | CV2732544 | single nucleotide variant | NM_016169.4(SUFU):c.1038C>T (p.Ser346=) | Hereditary cancer-predisposing syndrome [RCV003306790] | likely benign | 10 | 102615283 | 102615283 | Human | 1 | name |
| 401798104 | CV2741277 | duplication | NM_016169.4(SUFU):c.881dup (p.Thr295fs) | not provided [RCV003322440] | likely pathogenic | 10 | 102597262 | 102597263 | Human | | name |
| 401859663 | CV2757103 | single nucleotide variant | NM_016169.4(SUFU):c.254C>G (p.Pro85Arg) | Hereditary cancer-predisposing syndrome [RCV003341956] | uncertain significance | 10 | 102509240 | 102509240 | Human | 1 | name |
| 401859672 | CV2757108 | single nucleotide variant | NM_016169.4(SUFU):c.1140C>T (p.Leu380=) | Hereditary cancer-predisposing syndrome [RCV003341961] | likely benign | 10 | 102615385 | 102615385 | Human | 1 | name |
| 401862380 | CV2775274 | single nucleotide variant | NM_016169.4(SUFU):c.1447C>T (p.Leu483=) | Hereditary cancer-predisposing syndrome [RCV003343196] | likely benign | 10 | 102630147 | 102630147 | Human | 1 | name |
| 401862477 | CV2775322 | single nucleotide variant | NM_016169.4(SUFU):c.1015C>A (p.Arg339=) | Hereditary cancer-predisposing syndrome [RCV003343244] | likely benign | 10 | 102599537 | 102599537 | Human | 1 | name |
| 401913546 | CV2801823 | single nucleotide variant | NM_016169.4(SUFU):c.176A>G (p.Lys59Arg) | SUFU-related disorder [RCV004552470] | uncertain significance | 10 | 102504328 | 102504328 | Human | | name , trait , alternate_id |
| 401962334 | CV2843122 | single nucleotide variant | NM_016169.4(SUFU):c.229G>A (p.Val77Met) | Gorlin syndrome [RCV003779187]|not provided [RCV003477382] | uncertain significance | 10 | 102509215 | 102509215 | Human | 2 | name |
| 405001112 | CV3082203 | single nucleotide variant | NM_016169.4(SUFU):c.145C>G (p.Pro49Ala) | Gorlin syndrome [RCV003783460] | uncertain significance | 10 | 102504297 | 102504297 | Human | 2 | name |
| 404999140 | CV3084874 | single nucleotide variant | NM_016169.4(SUFU):c.1263G>A (p.Glu421=) | Gorlin syndrome [RCV003793548]|Hereditary cancer-predisposing syndrome [RCV004366591] | likely benign | 10 | 102617395 | 102617395 | Human | 3 | name |
| 404995053 | CV3085336 | single nucleotide variant | NM_016169.4(SUFU):c.254C>T (p.Pro85Leu) | Gorlin syndrome [RCV003782867]|Hereditary cancer-predisposing syndrome [RCV005291031] | uncertain significance | 10 | 102509240 | 102509240 | Human | 3 | name |
| 402522057 | CV3086532 | single nucleotide variant | NM_016169.4(SUFU):c.136C>T (p.Pro46Ser) | Gorlin syndrome [RCV003781148]|Hereditary cancer-predisposing syndrome [RCV004673973] | uncertain significance | 10 | 102504288 | 102504288 | Human | 3 | name |
| 405003335 | CV3095671 | deletion | NM_016169.4(SUFU):c.14_33del (p.Arg5fs) | Gorlin syndrome [RCV003793976] | pathogenic | 10 | 102504164 | 102504183 | Human | 2 | name |
| 405027478 | CV3098046 | single nucleotide variant | NM_016169.4(SUFU):c.242C>A (p.Ser81Tyr) | Gorlin syndrome [RCV003806339] | uncertain significance | 10 | 102509228 | 102509228 | Human | 2 | name |
| 404977856 | CV3098891 | single nucleotide variant | NM_016169.4(SUFU):c.1371A>G (p.Lys457=) | Gorlin syndrome [RCV003790871] | likely benign | 10 | 102630071 | 102630071 | Human | 2 | name |
| 404980067 | CV3099526 | single nucleotide variant | NM_016169.4(SUFU):c.1155A>G (p.Leu385=) | Gorlin syndrome [RCV003791355] | likely benign | 10 | 102615400 | 102615400 | Human | 2 | name |
| 405016139 | CV3100617 | single nucleotide variant | NM_016169.4(SUFU):c.136C>A (p.Pro46Thr) | Gorlin syndrome [RCV003805365]|Hereditary cancer-predisposing syndrome [RCV005291041] | uncertain significance | 10 | 102504288 | 102504288 | Human | 3 | name |
| 405175976 | CV3101114 | single nucleotide variant | NM_016169.4(SUFU):c.1179G>A (p.Arg393=) | Gorlin syndrome [RCV003803501]|Hereditary cancer-predisposing syndrome [RCV004950694] | likely benign | 10 | 102617311 | 102617311 | Human | 3 | name |
| 405180211 | CV3101737 | single nucleotide variant | NM_016169.4(SUFU):c.256G>T (p.Glu86Ter) | Gorlin syndrome [RCV003803950] | pathogenic | 10 | 102509242 | 102509242 | Human | 2 | name |
| 405172624 | CV3104672 | single nucleotide variant | NM_016169.4(SUFU):c.209A>G (p.Tyr70Cys) | Gorlin syndrome [RCV003803170] | uncertain significance | 10 | 102509195 | 102509195 | Human | 2 | name |
| 405093489 | CV3105461 | duplication | NM_016169.4(SUFU):c.894dup (p.Arg299fs) | Gorlin syndrome [RCV003801177] | pathogenic | 10 | 102597275 | 102597276 | Human | 2 | name |
| 405014758 | CV3106662 | single nucleotide variant | NM_016169.4(SUFU):c.1308C>G (p.Thr436=) | Gorlin syndrome [RCV003794999] | likely benign | 10 | 102627186 | 102627186 | Human | 2 | name |
| 405056303 | CV3107831 | single nucleotide variant | NM_016169.4(SUFU):c.1446G>T (p.Pro482=) | Gorlin syndrome [RCV003808576]|Hereditary cancer-predisposing syndrome [RCV004366641] | likely benign | 10 | 102630146 | 102630146 | Human | 3 | name |
| 405064523 | CV3108883 | single nucleotide variant | NM_016169.4(SUFU):c.1140C>G (p.Leu380=) | Gorlin syndrome [RCV003809293] | likely benign | 10 | 102615385 | 102615385 | Human | 2 | name |
| 405073121 | CV3111541 | single nucleotide variant | NM_016169.4(SUFU):c.1233G>C (p.Thr411=) | Gorlin syndrome [RCV003809881] | likely benign | 10 | 102617365 | 102617365 | Human | 2 | name |
| 405079004 | CV3114596 | single nucleotide variant | NM_016169.4(SUFU):c.144G>T (p.Gln48His) | Gorlin syndrome [RCV003810158]|Hereditary cancer-predisposing syndrome [RCV004950709] | uncertain significance | 10 | 102504296 | 102504296 | Human | 3 | name |
| 405707908 | CV3384286 | single nucleotide variant | NM_016169.4(SUFU):c.1014C>T (p.Asp338=) | Hereditary cancer-predisposing syndrome [RCV004522016] | likely benign | 10 | 102599536 | 102599536 | Human | 1 | name |
| 405707922 | CV3384288 | single nucleotide variant | NM_016169.4(SUFU):c.1050C>T (p.Asp350=) | Hereditary cancer-predisposing syndrome [RCV004522018] | likely benign | 10 | 102615295 | 102615295 | Human | 1 | name |
| 405707964 | CV3384293 | single nucleotide variant | NM_016169.4(SUFU):c.1131C>G (p.Ser377=) | Hereditary cancer-predisposing syndrome [RCV004522023] | likely benign | 10 | 102615376 | 102615376 | Human | 1 | name |
| 405707981 | CV3384295 | single nucleotide variant | NM_016169.4(SUFU):c.120G>T (p.Glu40Asp) | Gorlin syndrome [RCV005216239]|Hereditary cancer-predisposing syndrome [RCV004522025] | uncertain significance | 10 | 102504272 | 102504272 | Human | 3 | name |
| 405708013 | CV3384299 | single nucleotide variant | NM_016169.4(SUFU):c.1275G>C (p.Ala425=) | Hereditary cancer-predisposing syndrome [RCV004522029] | likely benign | 10 | 102617407 | 102617407 | Human | 1 | name |
| 405708019 | CV3384300 | single nucleotide variant | NM_016169.4(SUFU):c.1275G>T (p.Ala425=) | Hereditary cancer-predisposing syndrome [RCV004522030] | likely benign | 10 | 102617407 | 102617407 | Human | 1 | name |
| 405708025 | CV3384301 | single nucleotide variant | NM_016169.4(SUFU):c.1281T>C (p.His427=) | Gorlin syndrome [RCV005220935]|Hereditary cancer-predisposing syndrome [RCV004522031] | likely benign | 10 | 102617413 | 102617413 | Human | 3 | name |
| 405708062 | CV3384306 | single nucleotide variant | NM_016169.4(SUFU):c.1348T>C (p.Leu450=) | Gorlin syndrome [RCV005216241]|Hereditary cancer-predisposing syndrome [RCV004522036] | likely benign | 10 | 102627226 | 102627226 | Human | 3 | name |
| 405708105 | CV3384311 | deletion | NM_016169.4(SUFU):c.22_38del (p.Gly8fs) | Hereditary cancer-predisposing syndrome [RCV004522041] | likely pathogenic | 10 | 102504173 | 102504189 | Human | 1 | name |
| 405708112 | CV3384312 | single nucleotide variant | NM_016169.4(SUFU):c.221A>G (p.Tyr74Cys) | Hereditary cancer-predisposing syndrome [RCV004522042] | uncertain significance | 10 | 102509207 | 102509207 | Human | 1 | name |
| 407497039 | CV3481803 | single nucleotide variant | NM_016169.4(SUFU):c.183G>T (p.Trp61Cys) | Hereditary cancer-predisposing syndrome [RCV004668290] | uncertain significance | 10 | 102509169 | 102509169 | Human | 1 | name |
| 407530187 | CV3481804 | single nucleotide variant | NM_016169.4(SUFU):c.237C>A (p.Ser79Arg) | Hereditary cancer-predisposing syndrome [RCV004681731] | uncertain significance | 10 | 102509223 | 102509223 | Human | 1 | name |
| 407497062 | CV3481810 | single nucleotide variant | NM_016169.4(SUFU):c.1420C>T (p.Leu474=) | Hereditary cancer-predisposing syndrome [RCV004668295] | likely benign | 10 | 102630120 | 102630120 | Human | 1 | name |
| 407497068 | CV3481811 | single nucleotide variant | NM_016169.4(SUFU):c.1383G>A (p.Glu461=) | Hereditary cancer-predisposing syndrome [RCV004668296] | likely benign | 10 | 102630083 | 102630083 | Human | 1 | name |
| 407530192 | CV3481822 | single nucleotide variant | NM_016169.4(SUFU):c.141C>G (p.Asp47Glu) | Hereditary cancer-predisposing syndrome [RCV004681736]|not provided [RCV004775589] | uncertain significance | 10 | 102504293 | 102504293 | Human | 1 | name |
| 407507856 | CV3496302 | single nucleotide variant | NM_016169.4(SUFU):c.264G>A (p.Trp88Ter) | not provided [RCV004698143] | uncertain significance | 10 | 102509250 | 102509250 | Human | | name |
| 407574503 | CV3499514 | single nucleotide variant | NM_016169.4(SUFU):c.134A>C (p.Tyr45Ser) | not provided [RCV004719509] | uncertain significance | 10 | 102504286 | 102504286 | Human | | name |
| 596931532 | CV3531867 | single nucleotide variant | NM_016169.4(SUFU):c.154C>T (p.Leu52Phe) | not provided [RCV004781429] | uncertain significance | 10 | 102504306 | 102504306 | Human | | name |
| 596927819 | CV3532729 | single nucleotide variant | NM_016169.4(SUFU):c.196G>T (p.Asp66Tyr) | not provided [RCV004778827] | uncertain significance | 10 | 102509182 | 102509182 | Human | | name |
| 596925143 | CV3536935 | single nucleotide variant | NM_016169.4(SUFU):c.164C>T (p.Thr55Ile) | Joubert syndrome 32 [RCV004785929] | uncertain significance | 10 | 102504316 | 102504316 | Human | 1 | name |
| 597671440 | CV3611888 | single nucleotide variant | NM_016169.4(SUFU):c.250A>G (p.Ile84Val) | Hereditary cancer-predisposing syndrome [RCV004949256] | uncertain significance | 10 | 102509236 | 102509236 | Human | 1 | name |
| 597671534 | CV3611901 | single nucleotide variant | NM_016169.4(SUFU):c.217A>G (p.Met73Val) | Hereditary cancer-predisposing syndrome [RCV004949268] | uncertain significance | 10 | 102509203 | 102509203 | Human | 1 | name |
| 597671541 | CV3611902 | single nucleotide variant | NM_016169.4(SUFU):c.123C>G (p.Cys41Trp) | Hereditary cancer-predisposing syndrome [RCV004949269] | uncertain significance | 10 | 102504275 | 102504275 | Human | 1 | name |
| 597648967 | CV3611904 | single nucleotide variant | NM_016169.4(SUFU):c.257A>T (p.Glu86Val) | Hereditary cancer-predisposing syndrome [RCV004949271]|not provided [RCV005000597] | uncertain significance | 10 | 102509243 | 102509243 | Human | 1 | name |
| 597833247 | CV3864084 | single nucleotide variant | NM_016169.4(SUFU):c.1035C>T (p.Asp345=) | Gorlin syndrome [RCV005209720] | likely benign | 10 | 102615280 | 102615280 | Human | 2 | name |
| 597886280 | CV3866598 | single nucleotide variant | NM_016169.4(SUFU):c.1323G>A (p.Glu441=) | Gorlin syndrome [RCV005218074] | likely benign | 10 | 102627201 | 102627201 | Human | 2 | name |
| 597838407 | CV3866986 | single nucleotide variant | NM_016169.4(SUFU):c.193C>T (p.Pro65Ser) | Gorlin syndrome [RCV005225978] | uncertain significance | 10 | 102509179 | 102509179 | Human | 2 | name |
| 597922390 | CV3867289 | single nucleotide variant | NM_016169.4(SUFU):c.1431G>T (p.Val477=) | Gorlin syndrome [RCV005223715] | likely benign | 10 | 102630131 | 102630131 | Human | 2 | name |
| 597853886 | CV3869843 | single nucleotide variant | NM_016169.4(SUFU):c.107C>G (p.Ala36Gly) | Gorlin syndrome [RCV005213128] | uncertain significance | 10 | 102504259 | 102504259 | Human | 2 | name |
| 597860837 | CV3874781 | single nucleotide variant | NM_016169.4(SUFU):c.1287C>T (p.Pro429=) | Gorlin syndrome [RCV005214122] | likely benign | 10 | 102617419 | 102617419 | Human | 2 | name |
| 597898965 | CV3876141 | single nucleotide variant | NM_016169.4(SUFU):c.155T>C (p.Leu52Pro) | Gorlin syndrome [RCV005220031] | uncertain significance | 10 | 102504307 | 102504307 | Human | 2 | name |
| 597899115 | CV3876162 | single nucleotide variant | NM_016169.4(SUFU):c.105C>G (p.His35Gln) | Gorlin syndrome [RCV005220052] | uncertain significance | 10 | 102504257 | 102504257 | Human | 2 | name |
| 597924400 | CV3877285 | deletion | NM_016169.4(SUFU):c.661del (p.Glu221fs) | Gorlin syndrome [RCV005223981] | pathogenic | 10 | 102593698 | 102593698 | Human | 2 | name |
| 597930410 | CV3879318 | single nucleotide variant | NM_016169.4(SUFU):c.204G>T (p.Leu68Phe) | Gorlin syndrome [RCV005224815] | uncertain significance | 10 | 102509190 | 102509190 | Human | 2 | name |
| 598221226 | CV3916253 | single nucleotide variant | NM_016169.4(SUFU):c.296A>T (p.Tyr99Phe) | Hereditary cancer-predisposing syndrome [RCV005293596] | uncertain significance | 10 | 102509282 | 102509282 | Human | 1 | name |
| 598221250 | CV3916257 | single nucleotide variant | NM_016169.4(SUFU):c.186G>T (p.Leu62Phe) | Hereditary cancer-predisposing syndrome [RCV005293600] | uncertain significance | 10 | 102509172 | 102509172 | Human | 1 | name |
| 598263416 | CV3916259 | single nucleotide variant | NM_016169.4(SUFU):c.191G>T (p.Gly64Val) | Hereditary cancer-predisposing syndrome [RCV005280509] | uncertain significance | 10 | 102509177 | 102509177 | Human | 1 | name |
| 598263420 | CV3916260 | single nucleotide variant | NM_016169.4(SUFU):c.1377C>G (p.Pro459=) | Hereditary cancer-predisposing syndrome [RCV005280510] | likely benign | 10 | 102630077 | 102630077 | Human | 1 | name |
| 598263425 | CV3916265 | single nucleotide variant | NM_016169.4(SUFU):c.1302G>T (p.Leu434=) | Hereditary cancer-predisposing syndrome [RCV005280512] | likely benign | 10 | 102627180 | 102627180 | Human | 1 | name |
| 13494654 | CV459624 | single nucleotide variant | NM_016169.4(SUFU):c.1005C>T (p.Leu335=) | Gorlin syndrome [RCV000536560]|Hereditary cancer-predisposing syndrome [RCV002413425]|not provided [RCV005000108] | likely benign|uncertain significance | 10 | 102599527 | 102599527 | Human | 3 | name |
| 13490827 | CV460514 | single nucleotide variant | NM_016169.4(SUFU):c.1104C>T (p.Ser368=) | Gorlin syndrome [RCV000556265]|Hereditary cancer-predisposing syndrome [RCV001009900] | likely benign | 10 | 102615349 | 102615349 | Human | 3 | name |
| 13487062 | CV460515 | single nucleotide variant | NM_016169.4(SUFU):c.1191T>C (p.Tyr397=) | Familial meningioma [RCV005235375]|Gorlin syndrome [RCV001487541]|Hereditary cancer-predisposing syndrome [RCV002341242] | benign|likely benign | 10 | 102617323 | 102617323 | Human | 4 | name |
| 13474325 | CV460520 | single nucleotide variant | NM_016169.4(SUFU):c.1272C>T (p.Tyr424=) | Familial meningioma [RCV005235376]|Gorlin syndrome [RCV000544212]|Hereditary cancer-predisposing syndrome [RCV000572288]|not provided [RCV003424083]|not specified [RCV005231009] | benign|likely benign | 10 | 102617404 | 102617404 | Human | 4 | name |
| 13493413 | CV475247 | single nucleotide variant | NM_016169.4(SUFU):c.1008C>T (p.Ala336=) | Gorlin syndrome [RCV001486065]|Hereditary cancer-predisposing syndrome [RCV000571000]|SUFU-related disorder [RCV004553291] | likely benign | 10 | 102599530 | 102599530 | Human | 4 | name , alternate_id |
| 13608453 | CV525136 | single nucleotide variant | NM_016169.4(SUFU):c.1254C>T (p.Ala418=) | Gorlin syndrome [RCV000628522]|Hereditary cancer-predisposing syndrome [RCV002420668] | likely benign | 10 | 102617386 | 102617386 | Human | 3 | name |
| 13608411 | CV525257 | single nucleotide variant | NM_016169.4(SUFU):c.225G>T (p.Arg75Ser) | Familial meningioma [RCV004568352]|Gorlin syndrome [RCV000628508]|Hereditary cancer-predisposing syndrome [RCV001014963] | uncertain significance | 10 | 102509211 | 102509211 | Human | 4 | name |
| 13608456 | CV525286 | single nucleotide variant | NM_016169.4(SUFU):c.1446G>A (p.Pro482=) | Gorlin syndrome [RCV000628523]|Hereditary cancer-predisposing syndrome [RCV001011627]|SUFU-related disorder [RCV004547773]|not provided [RCV003424198] | likely benign | 10 | 102630146 | 102630146 | Human | 4 | name , alternate_id |
| 13608440 | CV525451 | single nucleotide variant | NM_016169.4(SUFU):c.1146T>C (p.Pro382=) | Gorlin syndrome [RCV000628518]|Hereditary cancer-predisposing syndrome [RCV002457974] | likely benign | 10 | 102615391 | 102615391 | Human | 3 | name |
| 13814722 | CV563526 | single nucleotide variant | NM_016169.4(SUFU):c.171C>G (p.Ile57Met) | Gorlin syndrome [RCV000691076] | uncertain significance | 10 | 102504323 | 102504323 | Human | 2 | name |
| 13815675 | CV563531 | single nucleotide variant | NM_016169.4(SUFU):c.175A>T (p.Lys59Ter) | Gorlin syndrome [RCV000705859] | pathogenic | 10 | 102504327 | 102504327 | Human | 2 | name |
| 13804161 | CV564462 | single nucleotide variant | NM_016169.4(SUFU):c.166G>T (p.Ala56Ser) | Gorlin syndrome [RCV000685142]|Hereditary cancer-predisposing syndrome [RCV001012657]|not provided [RCV002485585] | uncertain significance | 10 | 102504318 | 102504318 | Human | 3 | name |
| 13807503 | CV564463 | single nucleotide variant | NM_016169.4(SUFU):c.200C>G (p.Pro67Arg) | Gorlin syndrome [RCV000686796] | uncertain significance | 10 | 102509186 | 102509186 | Human | 2 | name |
| 15178866 | CV712131 | single nucleotide variant | NM_016169.4(SUFU):c.1317T>C (p.Phe439=) | Gorlin syndrome [RCV000973769]|Hereditary cancer-predisposing syndrome [RCV002382195] | likely benign | 10 | 102627195 | 102627195 | Human | 3 | name |
| 15199779 | CV751925 | single nucleotide variant | NM_016169.4(SUFU):c.1227C>G (p.Val409=) | Gorlin syndrome [RCV000912650]|Hereditary cancer-predisposing syndrome [RCV002372535] | likely benign | 10 | 102617359 | 102617359 | Human | 3 | name |
| 15183750 | CV767601 | single nucleotide variant | NM_016169.4(SUFU):c.1056C>T (p.Ser352=) | Gorlin syndrome [RCV001488498] | likely benign | 10 | 102615301 | 102615301 | Human | 2 | name |
| 15182064 | CV767602 | single nucleotide variant | NM_016169.4(SUFU):c.1077G>A (p.Glu359=) | Gorlin syndrome [RCV001403350] | likely benign | 10 | 102615322 | 102615322 | Human | 2 | name |
| 25328016 | CV809817 | single nucleotide variant | NM_016169.4(SUFU):c.224G>A (p.Arg75Lys) | Gorlin syndrome [RCV005225204]|Hereditary cancer-predisposing syndrome [RCV001014927] | uncertain significance | 10 | 102509210 | 102509210 | Human | 3 | name |
| 25328557 | CV809818 | single nucleotide variant | NM_016169.4(SUFU):c.256G>A (p.Glu86Lys) | Familial meningioma [RCV003461354]|Gorlin syndrome [RCV001047839]|Gorlin syndrome [RCV002479213]|Hereditary cancer-predisposing syndrome [RCV001015983]|SUFU-related disorder [RCV004553556]|not provided [RCV004761873] | uncertain significance | 10 | 102509242 | 102509242 | Human | 6 | name , alternate_id |
| 25329171 | CV809856 | single nucleotide variant | NM_016169.4(SUFU):c.1071C>T (p.Pro357=) | Gorlin syndrome [RCV002551799]|Hereditary cancer-predisposing syndrome [RCV001017207] | likely benign | 10 | 102615316 | 102615316 | Human | 3 | name |
| 25322301 | CV809858 | single nucleotide variant | NM_016169.4(SUFU):c.1089G>A (p.Thr363=) | Gorlin syndrome [RCV002068812]|Hereditary cancer-predisposing syndrome [RCV001009880] | likely benign | 10 | 102615334 | 102615334 | Human | 3 | name |
| 25322494 | CV809861 | single nucleotide variant | NM_016169.4(SUFU):c.1152C>T (p.Cys384=) | Gorlin syndrome [RCV002068816]|Hereditary cancer-predisposing syndrome [RCV001010002] | likely benign | 10 | 102615397 | 102615397 | Human | 3 | name |
| 25323830 | CV809865 | single nucleotide variant | NM_016169.4(SUFU):c.1302G>A (p.Leu434=) | Gorlin syndrome [RCV003769435]|Hereditary cancer-predisposing syndrome [RCV001010866] | likely benign | 10 | 102627180 | 102627180 | Human | 3 | name |
| 25324420 | CV809867 | single nucleotide variant | NM_016169.4(SUFU):c.1407G>A (p.Leu469=) | Hereditary cancer-predisposing syndrome [RCV001011417] | likely benign | 10 | 102630107 | 102630107 | Human | 1 | name |
| 25324489 | CV809868 | single nucleotide variant | NM_016169.4(SUFU):c.1413C>A (p.Val471=) | Hereditary cancer-predisposing syndrome [RCV001011477] | likely benign | 10 | 102630113 | 102630113 | Human | 1 | name |
| 26918009 | CV836567 | single nucleotide variant | NM_016169.4(SUFU):c.109A>G (p.Ile37Val) | Familial meningioma [RCV003462569]|Gorlin syndrome [RCV001057455]|Hereditary cancer-predisposing syndrome [RCV002451239]|not provided [RCV004721731] | benign|uncertain significance | 10 | 102504261 | 102504261 | Human | 4 | name |
| 26914151 | CV836568 | single nucleotide variant | NM_016169.4(SUFU):c.113A>G (p.Tyr38Cys) | Gorlin syndrome [RCV001054758]|Hereditary cancer-predisposing syndrome [RCV004950190] | uncertain significance | 10 | 102504265 | 102504265 | Human | 3 | name |
| 26890773 | CV836570 | single nucleotide variant | NM_016169.4(SUFU):c.151C>T (p.Pro51Ser) | Gorlin syndrome [RCV001046161]|Hereditary cancer-predisposing syndrome [RCV002393227] | uncertain significance | 10 | 102504303 | 102504303 | Human | 3 | name |
| 26890153 | CV836571 | single nucleotide variant | NM_016169.4(SUFU):c.233G>A (p.Gly78Glu) | Gorlin syndrome [RCV001067737]|Hereditary cancer-predisposing syndrome [RCV005286306] | uncertain significance | 10 | 102509219 | 102509219 | Human | 3 | name |
| 26896849 | CV836586 | duplication | NM_016169.4(SUFU):c.847dup (p.Glu283fs) | Gorlin syndrome [RCV001070045] | pathogenic | 10 | 102597229 | 102597230 | Human | 2 | name |
| 26916848 | CV836588 | deletion | NM_016169.4(SUFU):c.892del (p.Arg298fs) | Gorlin syndrome [RCV001056617] | pathogenic | 10 | 102597272 | 102597272 | Human | 2 | name |
| 38461607 | CV934929 | single nucleotide variant | NM_016169.4(SUFU):c.178T>C (p.Tyr60His) | Gorlin syndrome [RCV001212058] | uncertain significance | 10 | 102504330 | 102504330 | Human | 2 | name |
| 38480827 | CV934930 | single nucleotide variant | NM_016169.4(SUFU):c.202T>G (p.Leu68Val) | Gorlin syndrome [RCV001206591] | uncertain significance | 10 | 102509188 | 102509188 | Human | 2 | name |
| 38494949 | CV946793 | single nucleotide variant | NM_016169.4(SUFU):c.139G>A (p.Asp47Asn) | Gorlin syndrome [RCV001225407]|Hereditary cancer-predisposing syndrome [RCV004032533] | uncertain significance | 10 | 102504291 | 102504291 | Human | 3 | name |
| 38471974 | CV946794 | single nucleotide variant | NM_016169.4(SUFU):c.242C>G (p.Ser81Cys) | Gorlin syndrome [RCV001231356] | uncertain significance | 10 | 102509228 | 102509228 | Human | 2 | name |
| 38461918 | CV955969 | single nucleotide variant | NM_016169.4(SUFU):c.253C>T (p.Pro85Ser) | Gorlin syndrome [RCV001247052] | uncertain significance | 10 | 102509239 | 102509239 | Human | 2 | name |
| 8688487 | CV139024 | single nucleotide variant | NM_016169.4(SUFU):c.1028G>A (p.Arg343His) | Familial meningioma [RCV003467081]|Gorlin syndrome [RCV000466509]|Gorlin syndrome [RCV000763641]|Hereditary cancer-predisposing syndrome [RCV000566455]|Medulloblastoma [RCV000260834]|SUFU-related disorder [RCV004737208]|not provided [RCV001354923]|not specified [RCV000122100] | benign|likely benign|uncertain significance|not provided | 10 | 102615273 | 102615273 | Human | 6 | alternate_id |
| 155716629 | CV1822757 | single nucleotide variant | NM_016169.4(SUFU):c.730A>G (p.Ile244Val) | Hereditary cancer-predisposing syndrome [RCV002380036]|SUFU-related disorder [RCV004548281] | uncertain significance | 10 | 102594039 | 102594039 | Human | 1 | alternate_id |
| 11350172 | CV240729 | single nucleotide variant | NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) | Craniopharyngioma [RCV000761145]|Gorlin syndrome [RCV000233540]|Hereditary cancer-predisposing syndrome [RCV000569366]|Medulloblastoma [RCV000319465]|SUFU-related disorder [RCV004547611]|not provided [RCV001843499]|not specified [RCV000508167] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 10 | 102597222 | 102597222 | Human | 6 | alternate_id |
| 11349297 | CV240732 | single nucleotide variant | NM_016169.4(SUFU):c.1308C>T (p.Thr436=) | Gorlin syndrome [RCV000229979]|Hereditary cancer-predisposing syndrome [RCV000571833]|Medulloblastoma [RCV001103678]|SUFU-related disorder [RCV004737386]|not specified [RCV002479923] | benign|likely benign | 10 | 102627186 | 102627186 | Human | 4 | alternate_id |
| 401933480 | CV2802068 | indel | NM_016169.4(SUFU):c.1008_1012delinsTGAGGC (p.His337fs) | SUFU-related disorder [RCV004552568] | likely pathogenic | 10 | 102599530 | 102599534 | Human | | trait , alternate_id |
| 12881721 | CV397098 | single nucleotide variant | NM_016169.4(SUFU):c.1245C>T (p.Gly415=) | Gorlin syndrome [RCV001084319]|Hereditary cancer-predisposing syndrome [RCV000573131]|SUFU-related disorder [RCV004551543]|not provided [RCV000505895]|not specified [RCV002475904] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 10 | 102617377 | 102617377 | Human | 4 | alternate_id |
| 12887614 | CV397343 | single nucleotide variant | NM_016169.4(SUFU):c.412G>A (p.Ala138Thr) | Gorlin syndrome [RCV000469368]|Hereditary cancer-predisposing syndrome [RCV000561880]|SUFU-related disorder [RCV004551542]|not provided [RCV002056721]|not specified [RCV001821319] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 10 | 102550064 | 102550064 | Human | 4 | alternate_id |
| 12888131 | CV397537 | single nucleotide variant | NM_016169.4(SUFU):c.1221G>A (p.Thr407=) | Gorlin syndrome [RCV000470327]|Hereditary cancer-predisposing syndrome [RCV001010391]|SUFU-related disorder [RCV004737544] | likely benign | 10 | 102617353 | 102617353 | Human | 4 | alternate_id |
| 13475646 | CV460502 | single nucleotide variant | NM_016169.4(SUFU):c.671G>A (p.Arg224Gln) | Gorlin syndrome [RCV000548813]|Hereditary cancer-predisposing syndrome [RCV001025573]|SUFU-related disorder [RCV004737604]|not provided [RCV004777704] | uncertain significance | 10 | 102593709 | 102593709 | Human | 4 | alternate_id |
| 13821340 | CV564472 | insertion | NM_016169.4(SUFU):c.895_896insTGTGT (p.Arg299fs) | Gorlin syndrome [RCV000695755]|Hereditary cancer-predisposing syndrome [RCV005286182]|SUFU-related disorder [RCV004737958] | pathogenic|likely pathogenic | 10 | 102597278 | 102597279 | Human | 4 | alternate_id |
| 14722379 | CV638693 | single nucleotide variant | NM_016169.4(SUFU):c.1030A>C (p.Lys344Gln) | Gorlin syndrome [RCV000813870]|Hereditary cancer-predisposing syndrome [RCV002381817]|SUFU-related disorder [RCV004549890]|not provided [RCV004768688] | uncertain significance | 10 | 102615275 | 102615275 | Human | 4 | alternate_id |
| 15160990 | CV687585 | single nucleotide variant | NM_016169.4(SUFU):c.1188A>C (p.Thr396=) | Gorlin syndrome [RCV000869125]|Hereditary cancer-predisposing syndrome [RCV002336804]|SUFU-related disorder [RCV004549956] | likely benign | 10 | 102617320 | 102617320 | Human | 4 | alternate_id |
| 127326118 | CV1140953 | insertion | NM_016169.4(SUFU):c.1158-8_1158-7insCTG | Gorlin syndrome [RCV001506181] | likely benign | 10 | 102617282 | 102617283 | Human | 2 | name |
| 598125230 | CV3881506 | indel | NM_016169.4(SUFU):c.757-27_757-26delinsCT | not specified [RCV005232412] | likely benign | 10 | 102597113 | 102597114 | Human | | name |
| 598221195 | CV3916248 | indel | NM_016169.4(SUFU):c.910+3_910+4delinsCCAC | Hereditary cancer-predisposing syndrome [RCV005293591] | uncertain significance | 10 | 102597296 | 102597297 | Human | | name |
| 156134882 | CV2097304 | indel | NM_016169.4(SUFU):c.1365+18_1365+19delinsCC | Gorlin syndrome [RCV002890088] | uncertain significance | 10 | 102627261 | 102627262 | Human | | name |
| 14732499 | CV664513 | insertion | NM_016169.4(SUFU):c.455-215_455-214insCATTT | not provided [RCV000836615] | benign | 10 | 102592367 | 102592368 | Human | | name |