| 405278196 | CV3205918 | single nucleotide variant | NM_015331.3(NCSTN):c.-6G>C | NCSTN-related disorder [RCV003964030] | likely benign | 1 | 160343391 | 160343391 | Human | | name , trait , alternate_id |
| 150540985 | CV1297341 | single nucleotide variant | NM_015331.3(NCSTN):c.86-6G>T | not provided [RCV001767023] | uncertain significance | 1 | 160344716 | 160344716 | Human | | name |
| 152101747 | CV1621960 | single nucleotide variant | NM_015331.3(NCSTN):c.85+7C>T | not provided [RCV002115433] | likely benign | 1 | 160343488 | 160343488 | Human | | name |
| 156005423 | CV2166824 | single nucleotide variant | NM_015331.3(NCSTN):c.86-6G>A | not provided [RCV003017470] | likely benign | 1 | 160344716 | 160344716 | Human | | name |
| 405114969 | CV3115510 | single nucleotide variant | NM_015331.3(NCSTN):c.86-7C>T | not provided [RCV003814192] | likely benign | 1 | 160344715 | 160344715 | Human | | name |
| 127296597 | CV1153314 | single nucleotide variant | NM_015331.3(NCSTN):c.996+7G>A | Acne inversa, familial, 1 [RCV001837008]|NCSTN-related disorder [RCV003980501]|not provided [RCV001512582] | benign|likely benign|uncertain significance | 1 | 160352213 | 160352213 | Human | 1 | name , trait , alternate_id |
| 151809105 | CV1374810 | single nucleotide variant | NM_015331.3(NCSTN):c.314+3A>G | not provided [RCV001933016] | uncertain significance | 1 | 160349125 | 160349125 | Human | | name |
| 151811973 | CV1515779 | single nucleotide variant | NM_015331.3(NCSTN):c.436+1G>C | not provided [RCV002012527] | likely pathogenic | 1 | 160349671 | 160349671 | Human | | name |
| 152149831 | CV1555779 | single nucleotide variant | NM_015331.3(NCSTN):c.86-15T>C | not provided [RCV002179275] | likely benign | 1 | 160344707 | 160344707 | Human | | name |
| 152163255 | CV1561271 | single nucleotide variant | NM_015331.3(NCSTN):c.734-5C>T | NCSTN-related disorder [RCV003933533]|not provided [RCV002104200] | benign|likely benign | 1 | 160351691 | 160351691 | Human | 1 | name , trait , alternate_id |
| 152166481 | CV1566396 | single nucleotide variant | NM_015331.3(NCSTN):c.85+16C>A | not provided [RCV002160658] | likely benign | 1 | 160343497 | 160343497 | Human | | name |
| 156419558 | CV1977452 | single nucleotide variant | NM_015331.3(NCSTN):c.86-16T>C | not provided [RCV002612795] | benign | 1 | 160344706 | 160344706 | Human | | name |
| 156014067 | CV2009029 | single nucleotide variant | NM_015331.3(NCSTN):c.844-8G>T | not provided [RCV002690671] | likely benign | 1 | 160352046 | 160352046 | Human | | name |
| 156087396 | CV2060626 | single nucleotide variant | NM_015331.3(NCSTN):c.85+18G>A | not provided [RCV002824059] | likely benign | 1 | 160343499 | 160343499 | Human | | name |
| 155992596 | CV2063828 | single nucleotide variant | NM_015331.3(NCSTN):c.191-3C>T | not provided [RCV002843028] | uncertain significance | 1 | 160348996 | 160348996 | Human | | name |
| 155966523 | CV2082799 | deletion | NM_015331.3(NCSTN):c.85+17del | not provided [RCV002881281] | likely benign | 1 | 160343496 | 160343496 | Human | | name |
| 156304457 | CV2129679 | single nucleotide variant | NM_015331.3(NCSTN):c.437-8C>G | not provided [RCV002962296] | likely benign | 1 | 160350097 | 160350097 | Human | | name |
| 156032236 | CV2132695 | single nucleotide variant | NM_015331.3(NCSTN):c.582+8C>T | not provided [RCV002999191] | likely benign | 1 | 160350258 | 160350258 | Human | | name |
| 156165792 | CV2169607 | single nucleotide variant | NM_015331.3(NCSTN):c.191-7C>G | not provided [RCV003023358] | uncertain significance | 1 | 160348992 | 160348992 | Human | | name |
| 405065305 | CV2939886 | single nucleotide variant | NM_015331.3(NCSTN):c.86-20A>G | not provided [RCV003659011] | likely benign | 1 | 160344702 | 160344702 | Human | | name |
| 402473669 | CV3012769 | single nucleotide variant | NM_015331.3(NCSTN):c.85+14G>C | not provided [RCV003695563] | likely benign | 1 | 160343495 | 160343495 | Human | | name |
| 405172033 | CV3025804 | single nucleotide variant | NM_015331.3(NCSTN):c.997-5C>T | not provided [RCV003704675] | uncertain significance | 1 | 160352882 | 160352882 | Human | | name |
| 404979977 | CV3127900 | single nucleotide variant | NM_015331.3(NCSTN):c.997-9A>G | not provided [RCV003825932] | likely benign | 1 | 160352878 | 160352878 | Human | | name |
| 405060583 | CV3148285 | single nucleotide variant | NM_015331.3(NCSTN):c.436+9C>T | not provided [RCV003850241] | likely benign | 1 | 160349679 | 160349679 | Human | | name |
| 597910204 | CV3836934 | single nucleotide variant | NM_015331.3(NCSTN):c.314+7A>G | not provided [RCV005185285] | likely benign | 1 | 160349129 | 160349129 | Human | | name |
| 126772874 | CV1002256 | single nucleotide variant | NM_015331.3(NCSTN):c.1102-3C>T | not provided [RCV001324005] | uncertain significance | 1 | 160353157 | 160353157 | Human | | name |
| 127305382 | CV1153311 | single nucleotide variant | NM_015331.3(NCSTN):c.733+18C>G | not provided [RCV001516257] | benign | 1 | 160351390 | 160351390 | Human | 1 | name |
| 127305382 | CV1153311 | single nucleotide variant | NM_015331.3(NCSTN):c.733+18C>G | not provided [RCV001516257] | benign | 1 | 160351390 | 160351391 | Human | 1 | name |
| 127299004 | CV1153312 | single nucleotide variant | NM_015331.3(NCSTN):c.733+19A>T | not provided [RCV001513511] | benign | 1 | 160351391 | 160351391 | Human | | name |
| 127297293 | CV1153317 | single nucleotide variant | NM_015331.3(NCSTN):c.1180-5C>G | not provided [RCV001512823] | benign | 1 | 160354113 | 160354113 | Human | | name |
| 151710810 | CV1377121 | single nucleotide variant | NM_015331.3(NCSTN):c.1180-3C>T | not provided [RCV001889341] | uncertain significance | 1 | 160354115 | 160354115 | Human | | name |
| 152136592 | CV1560685 | single nucleotide variant | NM_015331.3(NCSTN):c.437-12C>G | Acne inversa, familial, 1 [RCV002494311]|not provided [RCV002137619] | likely benign | 1 | 160350093 | 160350093 | Human | 1 | name |
| 152031499 | CV1571667 | single nucleotide variant | NM_015331.3(NCSTN):c.1180-4C>G | not provided [RCV002186707] | likely benign | 1 | 160354114 | 160354114 | Human | | name |
| 152107412 | CV1581896 | single nucleotide variant | NM_015331.3(NCSTN):c.1353-7C>T | not provided [RCV002079794] | likely benign | 1 | 160355648 | 160355648 | Human | | name |
| 152034853 | CV1584682 | single nucleotide variant | NM_015331.3(NCSTN):c.1551+7A>C | not provided [RCV002125164] | likely benign | 1 | 160355965 | 160355965 | Human | | name |
| 152153788 | CV1592920 | single nucleotide variant | NM_015331.3(NCSTN):c.191-19A>G | not provided [RCV002202381] | likely benign | 1 | 160348980 | 160348980 | Human | | name |
| 152079544 | CV1596973 | single nucleotide variant | NM_015331.3(NCSTN):c.1180-4C>A | not provided [RCV002092668] | likely benign | 1 | 160354114 | 160354114 | Human | | name |
| 152085799 | CV1608243 | single nucleotide variant | NM_015331.3(NCSTN):c.1180-9A>G | not provided [RCV002212023] | likely benign | 1 | 160354109 | 160354109 | Human | | name |
| 152106623 | CV1609669 | single nucleotide variant | NM_015331.3(NCSTN):c.1353-4G>C | NCSTN-related disorder [RCV003958742]|not provided [RCV002116010] | benign|likely benign | 1 | 160355651 | 160355651 | Human | 1 | name , trait , alternate_id |
| 152146099 | CV1615253 | duplication | NM_015331.3(NCSTN):c.1102-3dup | not provided [RCV002101497] | benign | 1 | 160353151 | 160353152 | Human | | name |
| 152043620 | CV1619895 | single nucleotide variant | NM_015331.3(NCSTN):c.437-18C>T | not provided [RCV002188580] | likely benign | 1 | 160350087 | 160350087 | Human | | name |
| 152137236 | CV1625507 | single nucleotide variant | NM_015331.3(NCSTN):c.436+15G>A | not provided [RCV002137708] | likely benign | 1 | 160349685 | 160349685 | Human | | name |
| 152176251 | CV1628647 | single nucleotide variant | NM_015331.3(NCSTN):c.734-11G>C | not provided [RCV002164394] | likely benign | 1 | 160351685 | 160351685 | Human | | name |
| 152162071 | CV1635680 | single nucleotide variant | NM_015331.3(NCSTN):c.191-17T>A | not provided [RCV002203606] | likely benign | 1 | 160348982 | 160348982 | Human | | name |
| 152162224 | CV1635706 | duplication | NM_015331.3(NCSTN):c.1180-3dup | not provided [RCV002203632] | benign | 1 | 160354109 | 160354110 | Human | | name |
| 152028575 | CV1642846 | single nucleotide variant | NM_015331.3(NCSTN):c.733+13C>T | not provided [RCV002185881] | likely benign | 1 | 160351385 | 160351385 | Human | | name |
| 152142910 | CV1654522 | single nucleotide variant | NM_015331.3(NCSTN):c.436+12A>G | not provided [RCV002200809] | likely benign | 1 | 160349682 | 160349682 | Human | | name |
| 152099953 | CV1664039 | single nucleotide variant | NM_015331.3(NCSTN):c.437-14A>G | not provided [RCV002078856] | likely benign | 1 | 160350091 | 160350091 | Human | | name |
| 152123272 | CV1665515 | single nucleotide variant | NM_015331.3(NCSTN):c.190+12T>C | not provided [RCV002198342] | likely benign | 1 | 160344838 | 160344838 | Human | | name |
| 156286606 | CV1884867 | single nucleotide variant | NM_015331.3(NCSTN):c.1180-8C>A | not provided [RCV003061271] | likely benign | 1 | 160354110 | 160354110 | Human | | name |
| 156409861 | CV1922924 | single nucleotide variant | NM_015331.3(NCSTN):c.1102-4C>G | not provided [RCV002607682] | likely benign | 1 | 160353156 | 160353156 | Human | | name |
| 155906621 | CV1972174 | single nucleotide variant | NM_015331.3(NCSTN):c.582+10C>T | not provided [RCV002613711] | likely benign | 1 | 160350260 | 160350260 | Human | | name |
| 156158611 | CV2009335 | single nucleotide variant | NM_015331.3(NCSTN):c.1456-9C>T | NCSTN-related disorder [RCV003943482]|not provided [RCV002710085] | likely benign | 1 | 160355854 | 160355854 | Human | 1 | name , trait , alternate_id |
| 156175568 | CV2052010 | single nucleotide variant | NM_015331.3(NCSTN):c.734-18T>C | not provided [RCV002828132] | uncertain significance | 1 | 160351678 | 160351678 | Human | | name |
| 156027133 | CV2055895 | single nucleotide variant | NM_015331.3(NCSTN):c.996+12T>G | not provided [RCV002820899] | likely benign | 1 | 160352218 | 160352218 | Human | | name |
| 155962345 | CV2089152 | single nucleotide variant | NM_015331.3(NCSTN):c.315-14C>T | not provided [RCV002881084] | likely benign|uncertain significance | 1 | 160349535 | 160349535 | Human | | name |
| 156208957 | CV2103939 | single nucleotide variant | NM_015331.3(NCSTN):c.1456-3C>T | not provided [RCV002931981] | uncertain significance | 1 | 160355860 | 160355860 | Human | | name |
| 156196085 | CV2157154 | single nucleotide variant | NM_015331.3(NCSTN):c.1352+1G>C | not provided [RCV003006163] | likely pathogenic | 1 | 160354291 | 160354291 | Human | | name |
| 156214040 | CV2171101 | single nucleotide variant | NM_015331.3(NCSTN):c.996+13T>C | not provided [RCV003042444] | likely benign | 1 | 160352219 | 160352219 | Human | | name |
| 156362564 | CV2180559 | single nucleotide variant | NM_015331.3(NCSTN):c.583-19G>A | not provided [RCV003049128] | likely benign | 1 | 160351203 | 160351203 | Human | | name |
| 329351410 | CV2478045 | single nucleotide variant | NM_015331.3(NCSTN):c.1179+6C>G | Acne inversa, familial, 1 [RCV003224711] | uncertain significance | 1 | 160353243 | 160353243 | Human | 1 | name |
| 405086437 | CV2862218 | single nucleotide variant | NM_015331.3(NCSTN):c.1179+6C>T | not provided [RCV003549598] | uncertain significance | 1 | 160353243 | 160353243 | Human | | name |
| 405239876 | CV2882681 | single nucleotide variant | NM_015331.3(NCSTN):c.2008-7C>G | not provided [RCV003557174] | likely benign | 1 | 160358142 | 160358142 | Human | | name |
| 405088898 | CV2943475 | single nucleotide variant | NM_015331.3(NCSTN):c.437-17C>T | not provided [RCV003665148] | likely benign | 1 | 160350088 | 160350088 | Human | | name |
| 405084084 | CV2946442 | single nucleotide variant | NM_015331.3(NCSTN):c.1102-8C>T | not provided [RCV003664827] | likely benign | 1 | 160353152 | 160353152 | Human | | name |
| 405125717 | CV2958387 | single nucleotide variant | NM_015331.3(NCSTN):c.583-17T>C | not provided [RCV003667901] | likely benign | 1 | 160351205 | 160351205 | Human | | name |
| 405220236 | CV2969640 | single nucleotide variant | NM_015331.3(NCSTN):c.1640-3C>A | not provided [RCV003680569] | uncertain significance | 1 | 160356597 | 160356597 | Human | | name |
| 402502097 | CV3035484 | single nucleotide variant | NM_015331.3(NCSTN):c.734-19T>C | not provided [RCV003714801] | likely benign | 1 | 160351677 | 160351677 | Human | | name |
| 404979867 | CV3127832 | single nucleotide variant | NM_015331.3(NCSTN):c.190+20T>C | not provided [RCV003825864] | likely benign | 1 | 160344846 | 160344846 | Human | | name |
| 405191950 | CV3149716 | single nucleotide variant | NM_015331.3(NCSTN):c.733+14G>T | not provided [RCV003843442] | likely benign | 1 | 160351386 | 160351386 | Human | | name |
| 405238014 | CV3165368 | single nucleotide variant | NM_015331.3(NCSTN):c.2008-7C>A | not provided [RCV003866570] | likely benign | 1 | 160358142 | 160358142 | Human | | name |
| 405291048 | CV3203862 | single nucleotide variant | NM_015331.3(NCSTN):c.1102-5C>A | NCSTN-related disorder [RCV003927353] | likely benign | 1 | 160353155 | 160353155 | Human | | name , trait , alternate_id |
| 408366644 | CV3512481 | single nucleotide variant | NM_015331.3(NCSTN):c.1102-3C>A | NCSTN-related disorder [RCV004756852]|not provided [RCV005103794] | likely benign|uncertain significance | 1 | 160353157 | 160353157 | Human | 1 | name , trait , alternate_id |
| 597895829 | CV3740358 | single nucleotide variant | NM_015331.3(NCSTN):c.1101+8G>T | not provided [RCV005071711] | likely benign | 1 | 160352999 | 160352999 | Human | | name |
| 597959112 | CV3752033 | single nucleotide variant | NM_015331.3(NCSTN):c.1179+8G>A | not provided [RCV005081163] | likely benign | 1 | 160353245 | 160353245 | Human | | name |
| 597831843 | CV3759815 | single nucleotide variant | NM_015331.3(NCSTN):c.190+18C>A | not provided [RCV005084753] | likely benign | 1 | 160344844 | 160344844 | Human | | name |
| 597884626 | CV3816412 | single nucleotide variant | NM_015331.3(NCSTN):c.1102-5C>G | not provided [RCV005159473] | likely benign | 1 | 160353155 | 160353155 | Human | | name |
| 597903345 | CV3826160 | single nucleotide variant | NM_015331.3(NCSTN):c.582+18T>C | not provided [RCV005177856] | likely benign | 1 | 160350268 | 160350268 | Human | | name |
| 597895736 | CV3831381 | single nucleotide variant | NM_015331.3(NCSTN):c.315-20G>A | not provided [RCV005170584] | likely benign | 1 | 160349529 | 160349529 | Human | | name |
| 597891409 | CV3832087 | single nucleotide variant | NM_015331.3(NCSTN):c.844-10T>C | not provided [RCV005166343] | likely benign | 1 | 160352044 | 160352044 | Human | | name |
| 597917891 | CV3840393 | deletion | NM_015331.3(NCSTN):c.1102-3del | not provided [RCV005192877] | benign | 1 | 160353152 | 160353152 | Human | | name |
| 597930437 | CV3861551 | single nucleotide variant | NM_015331.3(NCSTN):c.2008-8C>A | not provided [RCV005204707] | likely benign | 1 | 160358141 | 160358141 | Human | | name |
| 8568359 | CV39410 | single nucleotide variant | NM_015331.3(NCSTN):c.1551+1G>A | Acne inversa, familial, 1 [RCV000023406] | pathogenic | 1 | 160355959 | 160355959 | Human | 1 | name |
| 13462490 | CV439996 | single nucleotide variant | NM_015331.3(NCSTN):c.1101+1G>A | Acne inversa, familial, 1 [RCV000515754] | pathogenic | 1 | 160352992 | 160352992 | Human | 1 | name |
| 127305410 | CV1153316 | single nucleotide variant | NM_015331.3(NCSTN):c.1101+13T>C | Acne inversa, familial, 1 [RCV002501791]|not provided [RCV001516264] | benign|likely benign | 1 | 160353004 | 160353004 | Human | 1 | name |
| 151811323 | CV1350469 | single nucleotide variant | NM_015331.3(NCSTN):c.1102-10C>A | Acne inversa, familial, 1 [RCV005370141]|not provided [RCV002048881] | likely benign|uncertain significance | 1 | 160353150 | 160353150 | Human | 1 | name |
| 152044375 | CV1525569 | single nucleotide variant | NM_015331.3(NCSTN):c.1795-16C>T | not provided [RCV002126486] | likely benign | 1 | 160357025 | 160357025 | Human | | name |
| 152058850 | CV1535972 | single nucleotide variant | NM_015331.3(NCSTN):c.1180-12C>T | not provided [RCV002146544] | likely benign | 1 | 160354106 | 160354106 | Human | | name |
| 152068301 | CV1571155 | single nucleotide variant | NM_015331.3(NCSTN):c.2007+15G>A | not provided [RCV002129267] | likely benign | 1 | 160357268 | 160357268 | Human | | name |
| 152037755 | CV1605705 | single nucleotide variant | NM_015331.3(NCSTN):c.1180-20A>T | not provided [RCV002087497] | likely benign | 1 | 160354098 | 160354098 | Human | | name |
| 152064601 | CV1612307 | single nucleotide variant | NM_015331.3(NCSTN):c.1795-14C>T | not provided [RCV002128793] | likely benign | 1 | 160357027 | 160357027 | Human | | name |
| 152070521 | CV1628412 | single nucleotide variant | NM_015331.3(NCSTN):c.1102-10C>G | not provided [RCV002169227] | likely benign | 1 | 160353150 | 160353150 | Human | | name |
| 152129870 | CV1630852 | single nucleotide variant | NM_015331.3(NCSTN):c.1456-10C>T | not provided [RCV002118942] | likely benign | 1 | 160355853 | 160355853 | Human | | name |
| 152104962 | CV1633932 | single nucleotide variant | NM_015331.3(NCSTN):c.1352+11C>T | not provided [RCV002196030] | likely benign | 1 | 160354301 | 160354301 | Human | | name |
| 152107771 | CV1634665 | single nucleotide variant | NM_015331.3(NCSTN):c.1180-11G>A | not provided [RCV002079837] | likely benign | 1 | 160354107 | 160354107 | Human | | name |
| 152074651 | CV1647563 | single nucleotide variant | NM_015331.3(NCSTN):c.1353-19A>T | not provided [RCV002210434] | likely benign | 1 | 160355636 | 160355636 | Human | | name |
| 152041006 | CV1649298 | single nucleotide variant | NM_015331.3(NCSTN):c.1551+20C>T | not provided [RCV002206343] | benign | 1 | 160355978 | 160355978 | Human | | name |
| 152052298 | CV1649950 | single nucleotide variant | NM_015331.3(NCSTN):c.2007+17G>T | not provided [RCV002167024] | likely benign | 1 | 160357270 | 160357270 | Human | | name |
| 156383750 | CV1961061 | single nucleotide variant | NM_015331.3(NCSTN):c.1552-13G>C | not provided [RCV002583346] | likely benign | 1 | 160356247 | 160356247 | Human | | name |
| 156343389 | CV1981675 | single nucleotide variant | NM_015331.3(NCSTN):c.1353-14G>A | not provided [RCV002631546] | likely benign | 1 | 160355641 | 160355641 | Human | | name |
| 156295679 | CV1995330 | single nucleotide variant | NM_015331.3(NCSTN):c.1639+12G>A | not provided [RCV002670942] | likely benign | 1 | 160356359 | 160356359 | Human | | name |
| 156380601 | CV1997973 | single nucleotide variant | NM_015331.3(NCSTN):c.1456-12C>T | not provided [RCV002653631] | likely benign | 1 | 160355851 | 160355851 | Human | | name |
| 156140634 | CV2002726 | single nucleotide variant | NM_015331.3(NCSTN):c.1456-17C>A | not provided [RCV002663555] | likely benign | 1 | 160355846 | 160355846 | Human | | name |
| 155951081 | CV2013996 | single nucleotide variant | NM_015331.3(NCSTN):c.1353-18T>C | not provided [RCV002686026] | likely benign | 1 | 160355637 | 160355637 | Human | | name |
| 156036879 | CV2089438 | single nucleotide variant | NM_015331.3(NCSTN):c.1102-14C>T | not provided [RCV002867282] | likely benign | 1 | 160353146 | 160353146 | Human | | name |
| 155940889 | CV2110721 | single nucleotide variant | NM_015331.3(NCSTN):c.1794+11G>A | not provided [RCV002904464] | uncertain significance | 1 | 160356765 | 160356765 | Human | | name |
| 155937103 | CV2114259 | single nucleotide variant | NM_015331.3(NCSTN):c.1552-14T>C | not provided [RCV002904215] | likely benign | 1 | 160356246 | 160356246 | Human | | name |
| 402492106 | CV2866810 | single nucleotide variant | NM_015331.3(NCSTN):c.1456-11A>G | not provided [RCV003573029] | likely benign | 1 | 160355852 | 160355852 | Human | | name |
| 402486131 | CV2945113 | single nucleotide variant | NM_015331.3(NCSTN):c.1640-19C>A | not provided [RCV003660090] | likely benign | 1 | 160356581 | 160356581 | Human | | name |
| 405163208 | CV2951443 | single nucleotide variant | NM_015331.3(NCSTN):c.2008-13C>G | not provided [RCV003670813] | likely benign | 1 | 160358136 | 160358136 | Human | | name |
| 405189044 | CV2974202 | single nucleotide variant | NM_015331.3(NCSTN):c.2007+19A>G | not provided [RCV003676982] | likely benign | 1 | 160357272 | 160357272 | Human | | name |
| 402512826 | CV2991335 | single nucleotide variant | NM_015331.3(NCSTN):c.1102-16T>C | not provided [RCV003689693] | likely benign | 1 | 160353144 | 160353144 | Human | | name |
| 405114083 | CV3133832 | single nucleotide variant | NM_015331.3(NCSTN):c.1352+10A>G | not provided [RCV003836627] | likely benign | 1 | 160354300 | 160354300 | Human | | name |
| 405110201 | CV3136872 | single nucleotide variant | NM_015331.3(NCSTN):c.2008-18C>T | not provided [RCV003836026] | likely benign | 1 | 160358131 | 160358131 | Human | | name |
| 405233604 | CV3145090 | single nucleotide variant | NM_015331.3(NCSTN):c.1102-17C>T | not provided [RCV003853347] | likely benign | 1 | 160353143 | 160353143 | Human | | name |
| 405233361 | CV3167942 | single nucleotide variant | NM_015331.3(NCSTN):c.1101+17C>A | not provided [RCV003865610] | likely benign | 1 | 160353008 | 160353008 | Human | | name |
| 597865844 | CV3742402 | single nucleotide variant | NM_015331.3(NCSTN):c.1456-20C>T | not provided [RCV005068018] | likely benign | 1 | 160355843 | 160355843 | Human | | name |
| 597929591 | CV3850648 | single nucleotide variant | NM_015331.3(NCSTN):c.1795-11C>G | not provided [RCV005203796] | likely benign | 1 | 160357030 | 160357030 | Human | | name |
| 156385401 | CV1874853 | duplication | NM_015331.3(NCSTN):c.85+6_85+9dup | not provided [RCV003050818] | likely benign | 1 | 160343486 | 160343487 | Human | | name |
| 151781127 | CV1426631 | duplication | NM_015331.3(NCSTN):c.314+2_314+4dup | not provided [RCV002009756] | uncertain significance | 1 | 160349123 | 160349124 | Human | | name |
| 156052543 | CV1881777 | single nucleotide variant | NM_015331.3(NCSTN):c.15G>T (p.Gly5=) | not provided [RCV003078929] | benign | 1 | 160343411 | 160343411 | Human | | name |
| 156148572 | CV2022954 | single nucleotide variant | NM_015331.3(NCSTN):c.21C>G (p.Gly7=) | not provided [RCV002741150] | uncertain significance | 1 | 160343417 | 160343417 | Human | | name |
| 402512570 | CV2890187 | single nucleotide variant | NM_015331.3(NCSTN):c.21C>T (p.Gly7=) | not provided [RCV003580025] | likely benign | 1 | 160343417 | 160343417 | Human | | name |
| 127245442 | CV1066396 | deletion | NM_015331.3(NCSTN):c.996+10_996+17del | not provided [RCV001398722] | likely benign | 1 | 160352212 | 160352219 | Human | | name |
| 151808899 | CV1374781 | deletion | NM_015331.3(NCSTN):c.1102-5_1102-3del | not provided [RCV001933000] | uncertain significance | 1 | 160353152 | 160353154 | Human | | name |
| 152076054 | CV1565406 | microsatellite | NM_015331.3(NCSTN):c.734-15_734-12del | not provided [RCV002148709] | likely benign | 1 | 160351677 | 160351680 | Human | | name |
| 152148740 | CV1569112 | single nucleotide variant | NM_015331.3(NCSTN):c.61C>T (p.Leu21=) | not provided [RCV002220459] | likely benign | 1 | 160343457 | 160343457 | Human | | name |
| 152161687 | CV1584552 | single nucleotide variant | NM_015331.3(NCSTN):c.87T>C (p.Gly29=) | not provided [RCV002123313] | likely benign | 1 | 160344723 | 160344723 | Human | | name |
| 152090172 | CV1594007 | single nucleotide variant | NM_015331.3(NCSTN):c.45G>C (p.Arg15=) | not provided [RCV002171719] | likely benign | 1 | 160343441 | 160343441 | Human | | name |
| 152061762 | CV1611247 | single nucleotide variant | NM_015331.3(NCSTN):c.75C>T (p.Val25=) | not provided [RCV002146857] | likely benign | 1 | 160343471 | 160343471 | Human | | name |
| 152168619 | CV1626277 | single nucleotide variant | NM_015331.3(NCSTN):c.54T>C (p.Leu18=) | NCSTN-related disorder [RCV003941313]|not provided [RCV002182508] | benign|likely benign | 1 | 160343450 | 160343450 | Human | 1 | name , trait , alternate_id |
| 156337331 | CV1976945 | single nucleotide variant | NM_015331.3(NCSTN):c.48T>G (p.Gly16=) | not provided [RCV002601101] | likely benign | 1 | 160343444 | 160343444 | Human | | name |
| 405189734 | CV3156745 | single nucleotide variant | NM_015331.3(NCSTN):c.96G>A (p.Arg32=) | not provided [RCV003859623] | likely benign | 1 | 160344732 | 160344732 | Human | | name |
| 405270857 | CV3194103 | single nucleotide variant | NM_015331.3(NCSTN):c.79C>T (p.Leu27=) | NCSTN-related disorder [RCV003893685]|not provided [RCV005064706] | likely benign | 1 | 160343475 | 160343475 | Human | 1 | name , trait , alternate_id |
| 597847444 | CV3765413 | single nucleotide variant | NM_015331.3(NCSTN):c.75C>G (p.Val25=) | not provided [RCV005121057] | likely benign | 1 | 160343471 | 160343471 | Human | | name |
| 597856176 | CV3863188 | single nucleotide variant | NM_015331.3(NCSTN):c.42T>C (p.Ser14=) | not provided [RCV005206714] | likely benign | 1 | 160343438 | 160343438 | Human | | name |
| 13521197 | CV495062 | deletion | NM_015331.3(NCSTN):c.17del (p.Gly6fs) | not provided [RCV000599261] | pathogenic | 1 | 160343409 | 160343409 | Human | | name |
| 127255272 | CV1088131 | single nucleotide variant | NM_015331.3(NCSTN):c.159G>A (p.Leu53=) | not provided [RCV001426517] | likely benign | 1 | 160344795 | 160344795 | Human | | name |
| 127292057 | CV1153310 | single nucleotide variant | NM_015331.3(NCSTN):c.210A>G (p.Thr70=) | NCSTN-related disorder [RCV003931046]|not provided [RCV001510706] | benign|likely benign | 1 | 160349018 | 160349018 | Human | 1 | name , trait , alternate_id |
| 151751791 | CV1412262 | single nucleotide variant | NM_015331.3(NCSTN):c.14G>A (p.Gly5Glu) | not provided [RCV001927588] | uncertain significance | 1 | 160343410 | 160343410 | Human | | name |
| 151734170 | CV1494435 | single nucleotide variant | NM_015331.3(NCSTN):c.23C>T (p.Ser8Phe) | not provided [RCV001946364] | uncertain significance | 1 | 160343419 | 160343419 | Human | | name |
| 152028017 | CV1521187 | single nucleotide variant | NM_015331.3(NCSTN):c.147C>T (p.Pro49=) | not provided [RCV002085321] | likely benign | 1 | 160344783 | 160344783 | Human | | name |
| 152170947 | CV1552484 | single nucleotide variant | NM_015331.3(NCSTN):c.222C>T (p.His74=) | not provided [RCV002143288] | benign | 1 | 160349030 | 160349030 | Human | | name |
| 152118718 | CV1602646 | single nucleotide variant | NM_015331.3(NCSTN):c.228A>G (p.Val76=) | not provided [RCV002117559] | likely benign | 1 | 160349036 | 160349036 | Human | | name |
| 152064056 | CV1612197 | single nucleotide variant | NM_015331.3(NCSTN):c.165C>T (p.Asn55=) | not provided [RCV002128719] | likely benign | 1 | 160344801 | 160344801 | Human | | name |
| 156286366 | CV1884856 | single nucleotide variant | NM_015331.3(NCSTN):c.108G>A (p.Val36=) | not provided [RCV003061263] | likely benign | 1 | 160344744 | 160344744 | Human | | name |
| 156375921 | CV1917598 | single nucleotide variant | NM_015331.3(NCSTN):c.156C>T (p.Arg52=) | not provided [RCV002603580] | benign | 1 | 160344792 | 160344792 | Human | | name |
| 156216842 | CV2081715 | single nucleotide variant | NM_015331.3(NCSTN):c.129C>G (p.Pro43=) | not provided [RCV002894025] | likely benign | 1 | 160344765 | 160344765 | Human | | name |
| 155940665 | CV2142910 | single nucleotide variant | NM_015331.3(NCSTN):c.26G>A (p.Gly9Glu) | not provided [RCV002994031] | uncertain significance | 1 | 160343422 | 160343422 | Human | | name |
| 402510783 | CV2918591 | single nucleotide variant | NM_015331.3(NCSTN):c.26G>C (p.Gly9Ala) | not provided [RCV003565960] | uncertain significance | 1 | 160343422 | 160343422 | Human | | name |
| 405239105 | CV2996977 | single nucleotide variant | NM_015331.3(NCSTN):c.291G>T (p.Leu97=) | not provided [RCV003718789] | likely benign | 1 | 160349099 | 160349099 | Human | | name |
| 402475973 | CV3048670 | single nucleotide variant | NM_015331.3(NCSTN):c.14G>T (p.Gly5Val) | not provided [RCV003725404] | uncertain significance | 1 | 160343410 | 160343410 | Human | | name |
| 405030098 | CV3129951 | single nucleotide variant | NM_015331.3(NCSTN):c.289C>T (p.Leu97=) | not provided [RCV003830550] | uncertain significance | 1 | 160349097 | 160349097 | Human | | name |
| 597889863 | CV3823915 | single nucleotide variant | NM_015331.3(NCSTN):c.117G>A (p.Lys39=) | not provided [RCV005165335] | likely benign | 1 | 160344753 | 160344753 | Human | | name |
| 15167202 | CV706789 | single nucleotide variant | NM_015331.3(NCSTN):c.201T>C (p.Ser67=) | not provided [RCV000971350] | benign | 1 | 160349009 | 160349009 | Human | | name |
| 15162230 | CV718316 | single nucleotide variant | NM_015331.3(NCSTN):c.237G>A (p.Glu79=) | not provided [RCV000881719] | benign | 1 | 160349045 | 160349045 | Human | | name |
| 127334019 | CV1130553 | single nucleotide variant | NM_015331.3(NCSTN):c.816C>T (p.Asp272=) | NCSTN-related disorder [RCV003948436]|not provided [RCV001490553] | likely benign | 1 | 160351778 | 160351778 | Human | 1 | name , trait , alternate_id |
| 127297285 | CV1153313 | single nucleotide variant | NM_015331.3(NCSTN):c.747C>T (p.Asp249=) | not provided [RCV001512822] | benign | 1 | 160351709 | 160351709 | Human | | name |
| 127290229 | CV1153319 | deletion | NM_015331.3(NCSTN):c.1352+20_1352+26del | not provided [RCV001509722] | benign | 1 | 160354306 | 160354312 | Human | | name |
| 150330514 | CV1168551 | single nucleotide variant | NM_015331.3(NCSTN):c.97G>A (p.Gly33Arg) | Acne inversa, familial, 1 [RCV001535813] | pathogenic | 1 | 160344733 | 160344733 | Human | 1 | name |
| 151805921 | CV1372045 | single nucleotide variant | NM_015331.3(NCSTN):c.49C>G (p.Leu17Val) | not provided [RCV001953359] | uncertain significance | 1 | 160343445 | 160343445 | Human | | name |
| 151713196 | CV1383908 | single nucleotide variant | NM_015331.3(NCSTN):c.95G>T (p.Arg32Met) | not provided [RCV001908428] | uncertain significance | 1 | 160344731 | 160344731 | Human | | name |
| 151893060 | CV1411886 | single nucleotide variant | NM_015331.3(NCSTN):c.86G>A (p.Gly29Asp) | not provided [RCV001944727] | uncertain significance | 1 | 160344722 | 160344722 | Human | | name |
| 151864239 | CV1431517 | single nucleotide variant | NM_015331.3(NCSTN):c.73G>A (p.Val25Ile) | not provided [RCV001924403] | uncertain significance | 1 | 160343469 | 160343469 | Human | | name |
| 152046584 | CV1519640 | single nucleotide variant | NM_015331.3(NCSTN):c.432G>A (p.Gly144=) | not provided [RCV002145152] | likely benign | 1 | 160349666 | 160349666 | Human | | name |
| 152159154 | CV1521967 | single nucleotide variant | NM_015331.3(NCSTN):c.696G>A (p.Arg232=) | not provided [RCV002180616] | likely benign | 1 | 160351335 | 160351335 | Human | | name |
| 152121774 | CV1562559 | single nucleotide variant | NM_015331.3(NCSTN):c.498G>A (p.Ser166=) | not provided [RCV002098252] | benign | 1 | 160350166 | 160350166 | Human | | name |
| 152067382 | CV1566831 | single nucleotide variant | NM_015331.3(NCSTN):c.939A>G (p.Gln313=) | not provided [RCV002091110] | likely benign | 1 | 160352149 | 160352149 | Human | | name |
| 152103954 | CV1574700 | single nucleotide variant | NM_015331.3(NCSTN):c.879A>G (p.Pro293=) | not provided [RCV002095897] | likely benign | 1 | 160352089 | 160352089 | Human | | name |
| 152083567 | CV1576842 | single nucleotide variant | NM_015331.3(NCSTN):c.891C>T (p.Ser297=) | not provided [RCV002193338] | likely benign | 1 | 160352101 | 160352101 | Human | | name |
| 152160978 | CV1606083 | single nucleotide variant | NM_015331.3(NCSTN):c.603G>A (p.Leu201=) | not provided [RCV002180927] | likely benign | 1 | 160351242 | 160351242 | Human | | name |
| 152152621 | CV1609790 | single nucleotide variant | NM_015331.3(NCSTN):c.372C>A (p.Ser124=) | not provided [RCV002179687] | likely benign | 1 | 160349606 | 160349606 | Human | | name |
| 152034299 | CV1639426 | single nucleotide variant | NM_015331.3(NCSTN):c.942G>A (p.Lys314=) | not provided [RCV002187237] | benign | 1 | 160352152 | 160352152 | Human | | name |
| 156373304 | CV1901877 | single nucleotide variant | NM_015331.3(NCSTN):c.56G>A (p.Arg19His) | Acne inversa, familial, 1 [RCV005399101]|not provided [RCV003092647] | uncertain significance | 1 | 160343452 | 160343452 | Human | 1 | name |
| 156439061 | CV1943929 | single nucleotide variant | NM_015331.3(NCSTN):c.714C>T (p.Ser238=) | not provided [RCV003109014] | likely benign | 1 | 160351353 | 160351353 | Human | | name |
| 156168209 | CV1971622 | single nucleotide variant | NM_015331.3(NCSTN):c.86G>T (p.Gly29Val) | not provided [RCV002594692] | uncertain significance | 1 | 160344722 | 160344722 | Human | | name |
| 156211587 | CV1983423 | single nucleotide variant | NM_015331.3(NCSTN):c.399C>T (p.Gly133=) | not provided [RCV002626097] | likely benign | 1 | 160349633 | 160349633 | Human | | name |
| 156183232 | CV2020570 | single nucleotide variant | NM_015331.3(NCSTN):c.738C>T (p.Ile246=) | not provided [RCV002710848] | likely benign | 1 | 160351700 | 160351700 | Human | | name |
| 156006136 | CV2041958 | single nucleotide variant | NM_015331.3(NCSTN):c.98G>T (p.Gly33Val) | not provided [RCV002756440] | uncertain significance | 1 | 160344734 | 160344734 | Human | | name |
| 156287211 | CV2067920 | single nucleotide variant | NM_015331.3(NCSTN):c.62T>C (p.Leu21Pro) | not provided [RCV002856602] | uncertain significance | 1 | 160343458 | 160343458 | Human | | name |
| 156248368 | CV2086314 | single nucleotide variant | NM_015331.3(NCSTN):c.765T>C (p.Asn255=) | not provided [RCV002876851] | likely benign | 1 | 160351727 | 160351727 | Human | | name |
| 156115389 | CV2104604 | single nucleotide variant | NM_015331.3(NCSTN):c.414A>G (p.Val138=) | not provided [RCV002927603] | likely benign | 1 | 160349648 | 160349648 | Human | | name |
| 156278441 | CV2137405 | single nucleotide variant | NM_015331.3(NCSTN):c.82G>A (p.Ala28Thr) | not provided [RCV003009512] | uncertain significance | 1 | 160343478 | 160343478 | Human | | name |
| 156131462 | CV2152103 | single nucleotide variant | NM_015331.3(NCSTN):c.729C>T (p.Asn243=) | not provided [RCV003003373] | likely benign | 1 | 160351368 | 160351368 | Human | | name |
| 405239765 | CV2980004 | single nucleotide variant | NM_015331.3(NCSTN):c.339G>A (p.Gly113=) | not provided [RCV003683802] | likely benign | 1 | 160349573 | 160349573 | Human | | name |
| 405201691 | CV3041333 | single nucleotide variant | NM_015331.3(NCSTN):c.960C>G (p.Thr320=) | not provided [RCV003707445] | likely benign | 1 | 160352170 | 160352170 | Human | | name |
| 405251041 | CV3053279 | single nucleotide variant | NM_015331.3(NCSTN):c.861T>C (p.Phe287=) | not provided [RCV003721790] | likely benign | 1 | 160352071 | 160352071 | Human | | name |
| 402476071 | CV3060295 | single nucleotide variant | NM_015331.3(NCSTN):c.55C>T (p.Arg19Cys) | not provided [RCV003726532] | uncertain significance | 1 | 160343451 | 160343451 | Human | | name |
| 402476953 | CV3070589 | single nucleotide variant | NM_015331.3(NCSTN):c.52C>G (p.Leu18Val) | not provided [RCV003734945] | uncertain significance | 1 | 160343448 | 160343448 | Human | | name |
| 405118595 | CV3131087 | single nucleotide variant | NM_015331.3(NCSTN):c.40A>G (p.Ser14Gly) | not provided [RCV003837143] | uncertain significance | 1 | 160343436 | 160343436 | Human | | name |
| 596924953 | CV3536836 | duplication | NM_015331.3(NCSTN):c.278dup (p.Tyr94fs) | Acne inversa, familial, 1 [RCV004785830] | likely pathogenic | 1 | 160349080 | 160349081 | Human | 1 | name |
| 597850424 | CV3784834 | single nucleotide variant | NM_015331.3(NCSTN):c.630C>T (p.Phe210=) | not provided [RCV005125613] | likely benign | 1 | 160351269 | 160351269 | Human | | name |
| 597855226 | CV3858497 | single nucleotide variant | NM_015331.3(NCSTN):c.43C>G (p.Arg15Gly) | not provided [RCV005197240] | uncertain significance | 1 | 160343439 | 160343439 | Human | | name |
| 12896822 | CV389331 | single nucleotide variant | NM_015331.3(NCSTN):c.636A>G (p.Leu212=) | not provided [RCV001512821]|not specified [RCV000455870] | benign | 1 | 160351275 | 160351275 | Human | | name |
| 598217851 | CV4003936 | single nucleotide variant | NM_015331.3(NCSTN):c.56G>T (p.Arg19Leu) | Inborn genetic diseases [RCV005379183] | uncertain significance | 1 | 160343452 | 160343452 | Human | 1 | name |
| 21071984 | CV794465 | deletion | NM_015331.3(NCSTN):c.214del (p.Val72fs) | not provided [RCV000994151] | likely pathogenic | 1 | 160349019 | 160349019 | Human | | name |
| 127276402 | CV1088132 | single nucleotide variant | NM_015331.3(NCSTN):c.1476G>A (p.Thr492=) | not provided [RCV001432778] | likely benign | 1 | 160355883 | 160355883 | Human | | name |
| 127240241 | CV1088133 | single nucleotide variant | NM_015331.3(NCSTN):c.1614C>G (p.Leu538=) | not provided [RCV001434189] | likely benign | 1 | 160356322 | 160356322 | Human | | name |
| 127308190 | CV1153315 | single nucleotide variant | NM_015331.3(NCSTN):c.1059C>T (p.Pro353=) | not provided [RCV001517409] | benign | 1 | 160352949 | 160352949 | Human | | name |
| 151830841 | CV1355827 | single nucleotide variant | NM_015331.3(NCSTN):c.240G>T (p.Glu80Asp) | not provided [RCV002030786] | uncertain significance | 1 | 160349048 | 160349048 | Human | | name |
| 151813915 | CV1382870 | single nucleotide variant | NM_015331.3(NCSTN):c.173A>G (p.His58Arg) | not provided [RCV002049119] | uncertain significance | 1 | 160344809 | 160344809 | Human | | name |
| 151851336 | CV1386137 | single nucleotide variant | NM_015331.3(NCSTN):c.223G>A (p.Val75Ile) | not provided [RCV001937391] | uncertain significance | 1 | 160349031 | 160349031 | Human | | name |
| 151761327 | CV1400559 | single nucleotide variant | NM_015331.3(NCSTN):c.283A>G (p.Met95Val) | not provided [RCV002007898] | uncertain significance | 1 | 160349091 | 160349091 | Human | | name |
| 151804353 | CV1429711 | single nucleotide variant | NM_015331.3(NCSTN):c.145C>T (p.Pro49Ser) | not provided [RCV001974201] | uncertain significance | 1 | 160344781 | 160344781 | Human | | name |
| 151786807 | CV1478965 | single nucleotide variant | NM_015331.3(NCSTN):c.1809A>G (p.Ser603=) | not provided [RCV002046694] | likely benign|uncertain significance | 1 | 160357055 | 160357055 | Human | | name |
| 151725066 | CV1496740 | single nucleotide variant | NM_015331.3(NCSTN):c.124A>G (p.Ile42Val) | not provided [RCV001910228] | uncertain significance | 1 | 160344760 | 160344760 | Human | | name |
| 151873293 | CV1499521 | single nucleotide variant | NM_015331.3(NCSTN):c.102C>G (p.Asn34Lys) | Inborn genetic diseases [RCV002545763]|not provided [RCV001885548] | uncertain significance | 1 | 160344738 | 160344738 | Human | 1 | name |
| 151843537 | CV1510861 | single nucleotide variant | NM_015331.3(NCSTN):c.112A>G (p.Arg38Gly) | not provided [RCV001957046] | uncertain significance | 1 | 160344748 | 160344748 | Human | | name |
| 152082241 | CV1525123 | single nucleotide variant | NM_015331.3(NCSTN):c.1665C>T (p.Ile555=) | not provided [RCV002130966] | likely benign | 1 | 160356625 | 160356625 | Human | | name |
| 152122017 | CV1541342 | single nucleotide variant | NM_015331.3(NCSTN):c.1383G>A (p.Glu461=) | not provided [RCV002175705] | likely benign | 1 | 160355685 | 160355685 | Human | | name |
| 152152200 | CV1565091 | single nucleotide variant | NM_015331.3(NCSTN):c.2046C>T (p.Phe682=) | not provided [RCV002102398] | likely benign | 1 | 160358187 | 160358187 | Human | | name |
| 152175000 | CV1572828 | single nucleotide variant | NM_015331.3(NCSTN):c.1332C>T (p.His444=) | not provided [RCV002144633] | likely benign | 1 | 160354270 | 160354270 | Human | | name |
| 152157401 | CV1573206 | single nucleotide variant | NM_015331.3(NCSTN):c.1470G>C (p.Val490=) | not provided [RCV002180317] | benign | 1 | 160355877 | 160355877 | Human | | name |
| 152119437 | CV1589259 | single nucleotide variant | NM_015331.3(NCSTN):c.2022A>G (p.Thr674=) | not provided [RCV002216578] | benign | 1 | 160358163 | 160358163 | Human | | name |
| 152036121 | CV1604395 | single nucleotide variant | NM_015331.3(NCSTN):c.1092G>A (p.Glu364=) | not provided [RCV002087234] | likely benign | 1 | 160352982 | 160352982 | Human | | name |
| 152027918 | CV1607555 | single nucleotide variant | NM_015331.3(NCSTN):c.200G>T (p.Ser67Ile) | not provided [RCV002105057] | likely benign | 1 | 160349008 | 160349008 | Human | | name |
| 152163467 | CV1619014 | single nucleotide variant | NM_015331.3(NCSTN):c.1404C>T (p.Pro468=) | not provided [RCV002123614] | likely benign | 1 | 160355706 | 160355706 | Human | | name |
| 152114727 | CV1628104 | single nucleotide variant | NM_015331.3(NCSTN):c.1917G>A (p.Gln639=) | not provided [RCV002197246] | likely benign | 1 | 160357163 | 160357163 | Human | | name |
| 152143068 | CV1640750 | single nucleotide variant | NM_015331.3(NCSTN):c.1791G>A (p.Lys597=) | not provided [RCV002178310] | likely benign | 1 | 160356751 | 160356751 | Human | | name |
| 152144097 | CV1651603 | single nucleotide variant | NM_015331.3(NCSTN):c.2031C>T (p.Phe677=) | Inborn genetic diseases [RCV004651956]|not provided [RCV002138552] | likely benign | 1 | 160358172 | 160358172 | Human | 1 | name |
| 152173340 | CV1653052 | single nucleotide variant | NM_015331.3(NCSTN):c.1644C>T (p.Asp548=) | not provided [RCV002144072] | likely benign | 1 | 160356604 | 160356604 | Human | | name |
| 152050065 | CV1657135 | single nucleotide variant | NM_015331.3(NCSTN):c.1119A>G (p.Ser373=) | not provided [RCV002189299] | likely benign | 1 | 160353177 | 160353177 | Human | | name |
| 152033003 | CV1657670 | single nucleotide variant | NM_015331.3(NCSTN):c.1371C>T (p.Tyr457=) | not provided [RCV002187005] | likely benign | 1 | 160355673 | 160355673 | Human | | name |
| 156041664 | CV1891085 | single nucleotide variant | NM_015331.3(NCSTN):c.2058C>T (p.Val686=) | not provided [RCV003078541] | likely benign | 1 | 160358199 | 160358199 | Human | | name |
| 155962247 | CV1931643 | single nucleotide variant | NM_015331.3(NCSTN):c.1515C>T (p.Thr505=) | not provided [RCV002616790] | likely benign | 1 | 160355922 | 160355922 | Human | | name |
| 156419907 | CV1967699 | single nucleotide variant | NM_015331.3(NCSTN):c.1350C>T (p.Asn450=) | not provided [RCV002613154] | likely benign | 1 | 160354288 | 160354288 | Human | | name |
| 156279768 | CV1967855 | single nucleotide variant | NM_015331.3(NCSTN):c.142G>T (p.Ala48Ser) | Inborn genetic diseases [RCV004065684]|not provided [RCV002598358] | uncertain significance | 1 | 160344778 | 160344778 | Human | 1 | name |
| 155912844 | CV1980312 | single nucleotide variant | NM_015331.3(NCSTN):c.1299T>C (p.Ala433=) | not provided [RCV002614115] | likely benign | 1 | 160354237 | 160354237 | Human | | name |
| 156335007 | CV1988193 | single nucleotide variant | NM_015331.3(NCSTN):c.273C>A (p.Asn91Lys) | not provided [RCV002631138] | uncertain significance | 1 | 160349081 | 160349081 | Human | | name |
| 156273995 | CV2004321 | single nucleotide variant | NM_015331.3(NCSTN):c.1035C>T (p.Tyr345=) | not provided [RCV002646625] | likely benign | 1 | 160352925 | 160352925 | Human | | name |
| 156058259 | CV2008112 | single nucleotide variant | NM_015331.3(NCSTN):c.200G>C (p.Ser67Thr) | Inborn genetic diseases [RCV004066925]|not provided [RCV002705295] | uncertain significance | 1 | 160349008 | 160349008 | Human | 1 | name |
| 155962078 | CV2023747 | single nucleotide variant | NM_015331.3(NCSTN):c.2055C>T (p.Ile685=) | not provided [RCV002731223] | likely benign | 1 | 160358196 | 160358196 | Human | | name |
| 156237708 | CV2047055 | single nucleotide variant | NM_015331.3(NCSTN):c.1171C>A (p.Arg391=) | not provided [RCV002805558] | uncertain significance | 1 | 160353229 | 160353229 | Human | | name |
| 156136865 | CV2048145 | single nucleotide variant | NM_015331.3(NCSTN):c.1875A>G (p.Ala625=) | not provided [RCV002800814] | likely benign | 1 | 160357121 | 160357121 | Human | | name |
| 155981843 | CV2078486 | single nucleotide variant | NM_015331.3(NCSTN):c.1464A>T (p.Ala488=) | not provided [RCV002863807] | uncertain significance | 1 | 160355871 | 160355871 | Human | | name |
| 155956701 | CV2087028 | single nucleotide variant | NM_015331.3(NCSTN):c.1974C>G (p.Ala658=) | not provided [RCV002862644] | likely benign | 1 | 160357220 | 160357220 | Human | | name |
| 156234299 | CV2093970 | single nucleotide variant | NM_015331.3(NCSTN):c.1662C>T (p.Tyr554=) | not provided [RCV002894672] | likely benign | 1 | 160356622 | 160356622 | Human | | name |
| 156385513 | CV2125475 | single nucleotide variant | NM_015331.3(NCSTN):c.1479G>A (p.Val493=) | not provided [RCV002943455] | likely benign | 1 | 160355886 | 160355886 | Human | | name |
| 155934137 | CV2129378 | single nucleotide variant | NM_015331.3(NCSTN):c.222C>G (p.His74Gln) | not provided [RCV002970811] | uncertain significance | 1 | 160349030 | 160349030 | Human | | name |
| 156315835 | CV2140247 | single nucleotide variant | NM_015331.3(NCSTN):c.166G>A (p.Ala56Thr) | not provided [RCV003011380] | uncertain significance | 1 | 160344802 | 160344802 | Human | | name |
| 156212200 | CV2170938 | single nucleotide variant | NM_015331.3(NCSTN):c.1797G>A (p.Leu599=) | not provided [RCV003042375] | likely benign | 1 | 160357043 | 160357043 | Human | | name |
| 156014559 | CV2177348 | single nucleotide variant | NM_015331.3(NCSTN):c.214G>A (p.Val72Ile) | not provided [RCV003035418] | uncertain significance | 1 | 160349022 | 160349022 | Human | | name |
| 402515074 | CV2855396 | single nucleotide variant | NM_015331.3(NCSTN):c.214G>T (p.Val72Phe) | not provided [RCV003547200] | uncertain significance | 1 | 160349022 | 160349022 | Human | | name |
| 402499332 | CV2871990 | single nucleotide variant | NM_015331.3(NCSTN):c.1941A>G (p.Thr647=) | not provided [RCV003545738] | likely benign | 1 | 160357187 | 160357187 | Human | | name |
| 405193149 | CV2872260 | single nucleotide variant | NM_015331.3(NCSTN):c.1695T>C (p.Tyr565=) | not provided [RCV003550594] | likely benign | 1 | 160356655 | 160356655 | Human | | name |
| 405227286 | CV2898407 | single nucleotide variant | NM_015331.3(NCSTN):c.1122A>G (p.Leu374=) | not provided [RCV003554886] | likely benign | 1 | 160353180 | 160353180 | Human | | name |
| 402499537 | CV2922892 | single nucleotide variant | NM_015331.3(NCSTN):c.1047G>A (p.Lys349=) | not provided [RCV003573845] | likely benign | 1 | 160352937 | 160352937 | Human | | name |
| 402518768 | CV2936566 | single nucleotide variant | NM_015331.3(NCSTN):c.2043C>T (p.Ile681=) | not provided [RCV003663090] | likely benign | 1 | 160358184 | 160358184 | Human | | name |
| 405080853 | CV2945631 | single nucleotide variant | NM_015331.3(NCSTN):c.248A>G (p.Gln83Arg) | not provided [RCV003664580] | uncertain significance | 1 | 160349056 | 160349056 | Human | | name |
| 405100584 | CV2947995 | single nucleotide variant | NM_015331.3(NCSTN):c.2079A>G (p.Lys693=) | not provided [RCV003666032] | likely benign | 1 | 160358220 | 160358220 | Human | | name |
| 405169816 | CV2951203 | single nucleotide variant | NM_015331.3(NCSTN):c.1885A>C (p.Arg629=) | not provided [RCV003675327] | likely benign | 1 | 160357131 | 160357131 | Human | | name |
| 405238574 | CV2996771 | single nucleotide variant | NM_015331.3(NCSTN):c.1479G>T (p.Val493=) | not provided [RCV003718692] | likely benign | 1 | 160355886 | 160355886 | Human | | name |
| 405127562 | CV3013842 | single nucleotide variant | NM_015331.3(NCSTN):c.177G>C (p.Gln59His) | not provided [RCV003701360] | uncertain significance | 1 | 160344813 | 160344813 | Human | | name |
| 405116002 | CV3020057 | single nucleotide variant | NM_015331.3(NCSTN):c.2008T>C (p.Leu670=) | not provided [RCV003700246] | uncertain significance | 1 | 160358149 | 160358149 | Human | | name |
| 405118300 | CV3020355 | single nucleotide variant | NM_015331.3(NCSTN):c.1731A>G (p.Thr577=) | not provided [RCV003700390] | likely benign | 1 | 160356691 | 160356691 | Human | | name |
| 405141176 | CV3029843 | single nucleotide variant | NM_015331.3(NCSTN):c.259A>G (p.Thr87Ala) | not provided [RCV003702445] | uncertain significance | 1 | 160349067 | 160349067 | Human | | name |
| 405183743 | CV3040126 | single nucleotide variant | NM_015331.3(NCSTN):c.1248A>G (p.Pro416=) | not provided [RCV003705804] | likely benign | 1 | 160354186 | 160354186 | Human | | name |
| 405174469 | CV3052555 | single nucleotide variant | NM_015331.3(NCSTN):c.128C>T (p.Pro43Leu) | not provided [RCV003728175] | uncertain significance | 1 | 160344764 | 160344764 | Human | | name |
| 405181776 | CV3057378 | single nucleotide variant | NM_015331.3(NCSTN):c.1563G>T (p.Leu521=) | not provided [RCV003728852] | likely benign | 1 | 160356271 | 160356271 | Human | | name |
| 405240968 | CV3060877 | single nucleotide variant | NM_015331.3(NCSTN):c.2040C>T (p.Leu680=) | not provided [RCV003737186] | likely benign | 1 | 160358181 | 160358181 | Human | | name |
| 405213037 | CV3078141 | single nucleotide variant | NM_015331.3(NCSTN):c.230A>G (p.Glu77Gly) | not provided [RCV003732273] | uncertain significance | 1 | 160349038 | 160349038 | Human | | name |
| 405179299 | CV3119752 | single nucleotide variant | NM_015331.3(NCSTN):c.1923C>T (p.Ser641=) | not provided [RCV003819845] | likely benign | 1 | 160357169 | 160357169 | Human | | name |
| 405035743 | CV3140501 | single nucleotide variant | NM_015331.3(NCSTN):c.1506A>G (p.Ala502=) | not provided [RCV003830983] | likely benign | 1 | 160355913 | 160355913 | Human | | name |
| 405227255 | CV3142864 | single nucleotide variant | NM_015331.3(NCSTN):c.1434C>T (p.Asn478=) | not provided [RCV003848207] | likely benign | 1 | 160355736 | 160355736 | Human | | name |
| 405202553 | CV3143644 | single nucleotide variant | NM_015331.3(NCSTN):c.1251T>C (p.Asn417=) | not provided [RCV003844630] | likely benign | 1 | 160354189 | 160354189 | Human | | name |
| 405220175 | CV3154372 | single nucleotide variant | NM_015331.3(NCSTN):c.1206G>A (p.Glu402=) | not provided [RCV003847064] | likely benign | 1 | 160354144 | 160354144 | Human | | name |
| 405208782 | CV3162509 | single nucleotide variant | NM_015331.3(NCSTN):c.285G>A (p.Met95Ile) | not provided [RCV003861808] | uncertain significance | 1 | 160349093 | 160349093 | Human | | name |
| 405205688 | CV3165633 | single nucleotide variant | NM_015331.3(NCSTN):c.1191C>T (p.Leu397=) | not provided [RCV003861299] | likely benign | 1 | 160354129 | 160354129 | Human | | name |
| 402470382 | CV3171133 | single nucleotide variant | NM_015331.3(NCSTN):c.1803G>A (p.Glu601=) | not provided [RCV003874096] | likely benign | 1 | 160357049 | 160357049 | Human | | name |
| 402476083 | CV3173742 | single nucleotide variant | NM_015331.3(NCSTN):c.295G>A (p.Glu99Lys) | not provided [RCV003875280] | uncertain significance | 1 | 160349103 | 160349103 | Human | | name |
| 404992176 | CV3176308 | single nucleotide variant | NM_015331.3(NCSTN):c.1800T>C (p.Tyr600=) | not provided [RCV003881740] | likely benign | 1 | 160357046 | 160357046 | Human | | name |
| 405253019 | CV3178173 | single nucleotide variant | NM_015331.3(NCSTN):c.1201T>C (p.Leu401=) | not provided [RCV003870953] | likely benign | 1 | 160354139 | 160354139 | Human | | name |
| 405256072 | CV3208584 | single nucleotide variant | NM_015331.3(NCSTN):c.1974C>A (p.Ala658=) | NCSTN-related disorder [RCV003939659] | likely benign | 1 | 160357220 | 160357220 | Human | | name , trait , alternate_id |
| 597720468 | CV3558879 | single nucleotide variant | NM_015331.3(NCSTN):c.121T>C (p.Tyr41His) | Inborn genetic diseases [RCV004961435] | uncertain significance | 1 | 160344757 | 160344757 | Human | 1 | name |
| 597864823 | CV3742240 | single nucleotide variant | NM_015331.3(NCSTN):c.1284G>A (p.Gln428=) | not provided [RCV005067856] | likely benign | 1 | 160354222 | 160354222 | Human | | name |
| 597855412 | CV3781050 | single nucleotide variant | NM_015331.3(NCSTN):c.296A>G (p.Glu99Gly) | not provided [RCV005129932] | uncertain significance | 1 | 160349104 | 160349104 | Human | | name |
| 597867035 | CV3802007 | single nucleotide variant | NM_015331.3(NCSTN):c.277C>G (p.Pro93Ala) | not provided [RCV005141799] | uncertain significance | 1 | 160349085 | 160349085 | Human | | name |
| 597872857 | CV3802983 | single nucleotide variant | NM_015331.3(NCSTN):c.222C>A (p.His74Gln) | not provided [RCV005147770] | uncertain significance | 1 | 160349030 | 160349030 | Human | | name |
| 597878891 | CV3806582 | single nucleotide variant | NM_015331.3(NCSTN):c.1473C>T (p.Ala491=) | not provided [RCV005154149] | likely benign | 1 | 160355880 | 160355880 | Human | | name |
| 597903097 | CV3825756 | single nucleotide variant | NM_015331.3(NCSTN):c.196A>G (p.Ile66Val) | not provided [RCV005177630] | uncertain significance | 1 | 160349004 | 160349004 | Human | | name |
| 597912588 | CV3837075 | single nucleotide variant | NM_015331.3(NCSTN):c.136A>G (p.Lys46Glu) | not provided [RCV005187906] | uncertain significance | 1 | 160344772 | 160344772 | Human | | name |
| 597916804 | CV3838337 | single nucleotide variant | NM_015331.3(NCSTN):c.1023G>A (p.Ser341=) | not provided [RCV005191712] | likely benign | 1 | 160352913 | 160352913 | Human | | name |
| 597913657 | CV3844186 | single nucleotide variant | NM_015331.3(NCSTN):c.1524C>T (p.Ser508=) | not provided [RCV005188795] | likely benign | 1 | 160355931 | 160355931 | Human | | name |
| 597930051 | CV3851635 | single nucleotide variant | NM_015331.3(NCSTN):c.1317T>C (p.Val439=) | not provided [RCV005204396] | likely benign | 1 | 160354255 | 160354255 | Human | | name |
| 15193047 | CV696209 | single nucleotide variant | NM_015331.3(NCSTN):c.1314C>T (p.Gly438=) | not provided [RCV000955257] | benign | 1 | 160354252 | 160354252 | Human | | name |
| 15126681 | CV706790 | single nucleotide variant | NM_015331.3(NCSTN):c.231G>C (p.Glu77Asp) | not provided [RCV000963781] | benign | 1 | 160349039 | 160349039 | Human | | name |
| 15202066 | CV718317 | single nucleotide variant | NM_015331.3(NCSTN):c.1083A>G (p.Ser361=) | not provided [RCV000891371] | benign | 1 | 160352973 | 160352973 | Human | | name |
| 15142935 | CV731809 | single nucleotide variant | NM_015331.3(NCSTN):c.1710C>T (p.Ala570=) | not provided [RCV000899755] | benign | 1 | 160356670 | 160356670 | Human | | name |
| 15165483 | CV745786 | single nucleotide variant | NM_015331.3(NCSTN):c.1938T>A (p.Ser646=) | not provided [RCV000926634] | likely benign | 1 | 160357184 | 160357184 | Human | | name |
| 126747560 | CV1002255 | single nucleotide variant | NM_015331.3(NCSTN):c.619G>C (p.Ala207Pro) | not provided [RCV001326172] | uncertain significance | 1 | 160351258 | 160351258 | Human | | name |
| 151778486 | CV1337107 | single nucleotide variant | NM_015331.3(NCSTN):c.766G>T (p.Val256Leu) | not provided [RCV002026033] | uncertain significance | 1 | 160351728 | 160351728 | Human | | name |
| 151891096 | CV1346902 | single nucleotide variant | NM_015331.3(NCSTN):c.892G>A (p.Ala298Thr) | Inborn genetic diseases [RCV004044822]|not provided [RCV002039004] | uncertain significance | 1 | 160352102 | 160352102 | Human | 1 | name |
| 151735143 | CV1354669 | single nucleotide variant | NM_015331.3(NCSTN):c.694C>T (p.Arg232Trp) | not provided [RCV001892667] | uncertain significance | 1 | 160351333 | 160351333 | Human | | name |
| 151772964 | CV1357418 | single nucleotide variant | NM_015331.3(NCSTN):c.739G>A (p.Val247Ile) | not provided [RCV001864253] | uncertain significance | 1 | 160351701 | 160351701 | Human | | name |
| 151750702 | CV1359133 | single nucleotide variant | NM_015331.3(NCSTN):c.469G>T (p.Ala157Ser) | not provided [RCV001969161] | uncertain significance | 1 | 160350137 | 160350137 | Human | | name |
| 151746737 | CV1375017 | single nucleotide variant | NM_015331.3(NCSTN):c.367G>A (p.Val123Met) | Inborn genetic diseases [RCV002557702]|not provided [RCV001947679] | uncertain significance | 1 | 160349601 | 160349601 | Human | 1 | name |
| 151883419 | CV1384212 | single nucleotide variant | NM_015331.3(NCSTN):c.436G>A (p.Gly146Ser) | not provided [RCV001886938] | uncertain significance | 1 | 160349670 | 160349670 | Human | | name |
| 151712298 | CV1386975 | single nucleotide variant | NM_015331.3(NCSTN):c.448A>T (p.Asn150Tyr) | not provided [RCV001964538] | uncertain significance | 1 | 160350116 | 160350116 | Human | | name |
| 151728044 | CV1388561 | single nucleotide variant | NM_015331.3(NCSTN):c.392C>T (p.Ala131Val) | not provided [RCV001966826] | uncertain significance | 1 | 160349626 | 160349626 | Human | | name |
| 151767338 | CV1393962 | single nucleotide variant | NM_015331.3(NCSTN):c.670G>A (p.Val224Ile) | not provided [RCV002008511] | uncertain significance | 1 | 160351309 | 160351309 | Human | | name |
| 151754348 | CV1405590 | single nucleotide variant | NM_015331.3(NCSTN):c.695G>A (p.Arg232Gln) | not provided [RCV001927836] | uncertain significance | 1 | 160351334 | 160351334 | Human | | name |
| 151887801 | CV1409132 | single nucleotide variant | NM_015331.3(NCSTN):c.313A>T (p.Arg105Trp) | Inborn genetic diseases [RCV004953202]|not provided [RCV001942464] | uncertain significance | 1 | 160349121 | 160349121 | Human | 1 | name |
| 151819403 | CV1415968 | single nucleotide variant | NM_015331.3(NCSTN):c.350G>A (p.Arg117Gln) | not provided [RCV001919415] | uncertain significance | 1 | 160349584 | 160349584 | Human | | name |
| 151781303 | CV1422093 | single nucleotide variant | NM_015331.3(NCSTN):c.364G>A (p.Ala122Thr) | not provided [RCV001972107] | uncertain significance | 1 | 160349598 | 160349598 | Human | | name |
| 151872483 | CV1426265 | single nucleotide variant | NM_015331.3(NCSTN):c.645G>A (p.Met215Ile) | not provided [RCV002019132] | uncertain significance | 1 | 160351284 | 160351284 | Human | | name |
| 151762841 | CV1456144 | single nucleotide variant | NM_015331.3(NCSTN):c.436G>C (p.Gly146Arg) | not provided [RCV002044479] | uncertain significance | 1 | 160349670 | 160349670 | Human | | name |
| 151876949 | CV1460113 | single nucleotide variant | NM_015331.3(NCSTN):c.968G>A (p.Arg323His) | not provided [RCV002036371] | uncertain significance | 1 | 160352178 | 160352178 | Human | | name |
| 151876783 | CV1461445 | single nucleotide variant | NM_015331.3(NCSTN):c.481G>C (p.Glu161Gln) | not provided [RCV001925918] | uncertain significance | 1 | 160350149 | 160350149 | Human | | name |
| 151716093 | CV1470526 | deletion | NM_015331.3(NCSTN):c.1290del (p.Leu431fs) | not provided [RCV001908984] | pathogenic | 1 | 160354226 | 160354226 | Human | | name |
| 151794487 | CV1482725 | single nucleotide variant | NM_015331.3(NCSTN):c.976A>G (p.Met326Val) | not provided [RCV002047413] | uncertain significance | 1 | 160352186 | 160352186 | Human | | name |
| 151835810 | CV1489336 | single nucleotide variant | NM_015331.3(NCSTN):c.967C>T (p.Arg323Cys) | NCSTN-related disorder [RCV003394303]|not provided [RCV001902280] | uncertain significance | 1 | 160352177 | 160352177 | Human | 1 | name , trait , alternate_id |
| 152119073 | CV1558357 | single nucleotide variant | NM_015331.3(NCSTN):c.842G>A (p.Arg281Gln) | not provided [RCV002135472] | likely benign | 1 | 160351804 | 160351804 | Human | | name |
| 156416495 | CV1905266 | single nucleotide variant | NM_015331.3(NCSTN):c.836C>T (p.Ala279Val) | not provided [RCV002610205] | uncertain significance | 1 | 160351798 | 160351798 | Human | | name |
| 156295259 | CV1923060 | single nucleotide variant | NM_015331.3(NCSTN):c.959C>A (p.Thr320Asn) | not provided [RCV002647375] | uncertain significance | 1 | 160352169 | 160352169 | Human | | name |
| 156068214 | CV1971923 | single nucleotide variant | NM_015331.3(NCSTN):c.506A>G (p.Asn169Ser) | Inborn genetic diseases [RCV004065746]|not provided [RCV002621165] | uncertain significance | 1 | 160350174 | 160350174 | Human | 1 | name |
| 156327221 | CV1972797 | single nucleotide variant | NM_015331.3(NCSTN):c.883G>T (p.Ala295Ser) | not provided [RCV002600596] | uncertain significance | 1 | 160352093 | 160352093 | Human | | name |
| 156009858 | CV1989655 | single nucleotide variant | NM_015331.3(NCSTN):c.915G>T (p.Gln305His) | Inborn genetic diseases [RCV005375125]|not provided [RCV002636163] | uncertain significance | 1 | 160352125 | 160352125 | Human | 1 | name |
| 156355100 | CV2008839 | single nucleotide variant | NM_015331.3(NCSTN):c.418T>G (p.Cys140Gly) | not provided [RCV002720468] | uncertain significance | 1 | 160349652 | 160349652 | Human | | name |
| 156119957 | CV2039804 | single nucleotide variant | NM_015331.3(NCSTN):c.465G>T (p.Glu155Asp) | not provided [RCV002785750] | uncertain significance | 1 | 160350133 | 160350133 | Human | | name |
| 156183321 | CV2058890 | single nucleotide variant | NM_015331.3(NCSTN):c.538A>G (p.Ile180Val) | not provided [RCV002828374] | uncertain significance | 1 | 160350206 | 160350206 | Human | | name |
| 156224684 | CV2121748 | single nucleotide variant | NM_015331.3(NCSTN):c.316G>A (p.Asp106Asn) | not provided [RCV002958280] | uncertain significance | 1 | 160349550 | 160349550 | Human | | name |
| 156400321 | CV2199106 | single nucleotide variant | NM_015331.3(NCSTN):c.518A>G (p.Tyr173Cys) | Inborn genetic diseases [RCV002656452]|not provided [RCV003777606] | uncertain significance | 1 | 160350186 | 160350186 | Human | 1 | name |
| 156196715 | CV2259204 | single nucleotide variant | NM_015331.3(NCSTN):c.431G>A (p.Gly144Glu) | Inborn genetic diseases [RCV002803192] | uncertain significance | 1 | 160349665 | 160349665 | Human | 1 | name |
| 156043948 | CV2307964 | single nucleotide variant | NM_015331.3(NCSTN):c.377C>T (p.Thr126Ile) | Inborn genetic diseases [RCV002910807] | uncertain significance | 1 | 160349611 | 160349611 | Human | 1 | name |
| 401933102 | CV2806110 | single nucleotide variant | NM_015331.3(NCSTN):c.715A>C (p.Thr239Pro) | not provided [RCV003409196] | uncertain significance | 1 | 160351354 | 160351354 | Human | | name |
| 402498789 | CV2871917 | single nucleotide variant | NM_015331.3(NCSTN):c.977T>C (p.Met326Thr) | not provided [RCV003545689] | uncertain significance | 1 | 160352187 | 160352187 | Human | | name |
| 402505485 | CV2884438 | single nucleotide variant | NM_015331.3(NCSTN):c.782A>G (p.Lys261Arg) | not provided [RCV003546319] | uncertain significance | 1 | 160351744 | 160351744 | Human | | name |
| 405223725 | CV2887591 | single nucleotide variant | NM_015331.3(NCSTN):c.607C>G (p.Gln203Glu) | not provided [RCV003554312] | uncertain significance | 1 | 160351246 | 160351246 | Human | | name |
| 404998592 | CV3008892 | single nucleotide variant | NM_015331.3(NCSTN):c.898G>T (p.Ala300Ser) | not provided [RCV003692953] | uncertain significance | 1 | 160352108 | 160352108 | Human | | name |
| 405126396 | CV3053519 | single nucleotide variant | NM_015331.3(NCSTN):c.467T>G (p.Phe156Cys) | not provided [RCV003724413] | uncertain significance | 1 | 160350135 | 160350135 | Human | | name |
| 405216529 | CV3055670 | single nucleotide variant | NM_015331.3(NCSTN):c.455A>G (p.Tyr152Cys) | Inborn genetic diseases [RCV004374084]|not provided [RCV003732726] | uncertain significance | 1 | 160350123 | 160350123 | Human | 1 | name |
| 405210861 | CV3059060 | single nucleotide variant | NM_015331.3(NCSTN):c.787A>G (p.Ile263Val) | Inborn genetic diseases [RCV004374227]|not provided [RCV003731987] | uncertain significance | 1 | 160351749 | 160351749 | Human | 1 | name |
| 405024568 | CV3075895 | single nucleotide variant | NM_015331.3(NCSTN):c.461C>T (p.Pro154Leu) | not provided [RCV003738683] | uncertain significance | 1 | 160350129 | 160350129 | Human | | name |
| 405026891 | CV3076007 | single nucleotide variant | NM_015331.3(NCSTN):c.574A>G (p.Ile192Val) | not provided [RCV003738852] | uncertain significance | 1 | 160350242 | 160350242 | Human | | name |
| 405213044 | CV3078142 | single nucleotide variant | NM_015331.3(NCSTN):c.323T>C (p.Met108Thr) | not provided [RCV003732274] | uncertain significance | 1 | 160349557 | 160349557 | Human | | name |
| 405196726 | CV3138741 | single nucleotide variant | NM_015331.3(NCSTN):c.892G>T (p.Ala298Ser) | not provided [RCV003821557] | uncertain significance | 1 | 160352102 | 160352102 | Human | | name |
| 405231593 | CV3157431 | single nucleotide variant | NM_015331.3(NCSTN):c.778C>A (p.Leu260Ile) | not provided [RCV003865381] | uncertain significance | 1 | 160351740 | 160351740 | Human | | name |
| 402464335 | CV3172621 | single nucleotide variant | NM_015331.3(NCSTN):c.497C>T (p.Ser166Leu) | not provided [RCV003872559] | uncertain significance | 1 | 160350165 | 160350165 | Human | | name |
| 405814404 | CV3341288 | single nucleotide variant | NM_015331.3(NCSTN):c.724A>G (p.Ile242Val) | Inborn genetic diseases [RCV004484363] | uncertain significance | 1 | 160351363 | 160351363 | Human | 1 | name |
| 597720436 | CV3558873 | single nucleotide variant | NM_015331.3(NCSTN):c.929A>C (p.Glu310Ala) | Inborn genetic diseases [RCV004961430] | uncertain significance | 1 | 160352139 | 160352139 | Human | 1 | name |
| 597720450 | CV3558876 | single nucleotide variant | NM_015331.3(NCSTN):c.704C>A (p.Ser235Tyr) | Inborn genetic diseases [RCV004961432] | uncertain significance | 1 | 160351343 | 160351343 | Human | 1 | name |
| 597720462 | CV3558878 | single nucleotide variant | NM_015331.3(NCSTN):c.586T>C (p.Tyr196His) | Inborn genetic diseases [RCV004961434] | uncertain significance | 1 | 160351225 | 160351225 | Human | 1 | name |
| 597898547 | CV3740836 | single nucleotide variant | NM_015331.3(NCSTN):c.454T>C (p.Tyr152His) | not provided [RCV005071999] | uncertain significance | 1 | 160350122 | 160350122 | Human | | name |
| 597863676 | CV3800352 | single nucleotide variant | NM_015331.3(NCSTN):c.864C>A (p.Phe288Leu) | not provided [RCV005137444] | uncertain significance | 1 | 160352074 | 160352074 | Human | | name |
| 597884374 | CV3815580 | single nucleotide variant | NM_015331.3(NCSTN):c.517T>C (p.Tyr173His) | not provided [RCV005159269] | uncertain significance | 1 | 160350185 | 160350185 | Human | | name |
| 597873670 | CV3816839 | single nucleotide variant | NM_015331.3(NCSTN):c.881G>A (p.Gly294Glu) | not provided [RCV005148892] | uncertain significance | 1 | 160352091 | 160352091 | Human | | name |
| 597896963 | CV3825236 | single nucleotide variant | NM_015331.3(NCSTN):c.400T>C (p.Phe134Leu) | not provided [RCV005171919] | uncertain significance | 1 | 160349634 | 160349634 | Human | | name |
| 8568358 | CV39409 | deletion | NM_015331.3(NCSTN):c.1752del (p.Glu584fs) | Acne inversa, familial, 1 [RCV000023405] | pathogenic | 1 | 160356712 | 160356712 | Human | 1 | name |
| 8602220 | CV39411 | single nucleotide variant | NM_015331.3(NCSTN):c.349C>T (p.Arg117Ter) | Acne inversa, familial, 1 [RCV000023407] | pathogenic | 1 | 160349583 | 160349583 | Human | 1 | name |
| 13783917 | CV550576 | single nucleotide variant | NM_015331.3(NCSTN):c.944C>T (p.Ala315Val) | Acne inversa, familial, 1 [RCV000677636]|not provided [RCV003558532] | likely pathogenic|uncertain significance | 1 | 160352154 | 160352154 | Human | 1 | name |
| 126749146 | CV1002257 | single nucleotide variant | NM_015331.3(NCSTN):c.1145C>A (p.Pro382His) | not provided [RCV001315669] | uncertain significance | 1 | 160353203 | 160353203 | Human | | name |
| 126731614 | CV1002258 | single nucleotide variant | NM_015331.3(NCSTN):c.1841C>T (p.Thr614Met) | not provided [RCV001313073] | uncertain significance | 1 | 160357087 | 160357087 | Human | | name |
| 127319703 | CV1153318 | single nucleotide variant | NM_015331.3(NCSTN):c.1249A>T (p.Asn417Tyr) | Acne inversa, familial, 1 [RCV002501843]|NCSTN-related disorder [RCV003931136]|not provided [RCV001522257] | benign|likely benign | 1 | 160354187 | 160354187 | Human | 1 | name , trait , alternate_id |
| 150330515 | CV1168552 | single nucleotide variant | NM_015331.3(NCSTN):c.1285C>T (p.Arg429Ter) | Acne inversa, familial, 1 [RCV001535814] | pathogenic | 1 | 160354223 | 160354223 | Human | 1 | name |
| 151349346 | CV1170140 | single nucleotide variant | NM_015331.3(NCSTN):c.1635C>G (p.Tyr545Ter) | Abnormality of the skin [RCV001814539] | pathogenic | 1 | 160356343 | 160356343 | Human | 1 | name |
| 151870992 | CV1340430 | single nucleotide variant | NM_015331.3(NCSTN):c.1739A>G (p.Asn580Ser) | Inborn genetic diseases [RCV003365543]|not provided [RCV001939797] | uncertain significance | 1 | 160356699 | 160356699 | Human | 1 | name |
| 151831392 | CV1343631 | single nucleotide variant | NM_015331.3(NCSTN):c.1099C>G (p.Gln367Glu) | not provided [RCV001920526] | uncertain significance | 1 | 160352989 | 160352989 | Human | | name |
| 151856746 | CV1347820 | single nucleotide variant | NM_015331.3(NCSTN):c.1298C>T (p.Ala433Val) | not provided [RCV001979618] | uncertain significance | 1 | 160354236 | 160354236 | Human | | name |
| 151813130 | CV1355630 | single nucleotide variant | NM_015331.3(NCSTN):c.1393G>A (p.Val465Met) | not provided [RCV002012640] | uncertain significance | 1 | 160355695 | 160355695 | Human | | name |
| 151844492 | CV1363459 | single nucleotide variant | NM_015331.3(NCSTN):c.2080G>A (p.Ala694Thr) | not provided [RCV002032224] | uncertain significance | 1 | 160358221 | 160358221 | Human | | name |
| 151862565 | CV1365107 | single nucleotide variant | NM_015331.3(NCSTN):c.1315G>A (p.Val439Ile) | not provided [RCV002017939] | uncertain significance | 1 | 160354253 | 160354253 | Human | | name |
| 151852506 | CV1376084 | single nucleotide variant | NM_015331.3(NCSTN):c.1856G>A (p.Arg619Gln) | not provided [RCV001996145] | uncertain significance | 1 | 160357102 | 160357102 | Human | | name |
| 151738928 | CV1379274 | single nucleotide variant | NM_015331.3(NCSTN):c.1213G>C (p.Gly405Arg) | Inborn genetic diseases [RCV005374881]|not provided [RCV001911734] | uncertain significance | 1 | 160354151 | 160354151 | Human | 1 | name |
| 151776818 | CV1381717 | single nucleotide variant | NM_015331.3(NCSTN):c.2053A>G (p.Ile685Val) | not provided [RCV001950690] | uncertain significance | 1 | 160358194 | 160358194 | Human | | name |
| 151712113 | CV1401666 | single nucleotide variant | NM_015331.3(NCSTN):c.1513A>G (p.Thr505Ala) | not provided [RCV001964508] | uncertain significance | 1 | 160355920 | 160355920 | Human | | name |
| 151762996 | CV1407475 | single nucleotide variant | NM_015331.3(NCSTN):c.1301G>A (p.Arg434Gln) | not provided [RCV002044495] | uncertain significance | 1 | 160354239 | 160354239 | Human | | name |
| 151770285 | CV1410766 | single nucleotide variant | NM_015331.3(NCSTN):c.2056G>A (p.Val686Ile) | not provided [RCV001971116] | uncertain significance | 1 | 160358197 | 160358197 | Human | | name |
| 151773903 | CV1424140 | single nucleotide variant | NM_015331.3(NCSTN):c.1414A>T (p.Ser472Cys) | not provided [RCV002045507] | uncertain significance | 1 | 160355716 | 160355716 | Human | | name |
| 151889539 | CV1436037 | single nucleotide variant | NM_015331.3(NCSTN):c.1229C>T (p.Ala410Val) | not provided [RCV001963449] | uncertain significance | 1 | 160354167 | 160354167 | Human | | name |
| 151825014 | CV1442711 | single nucleotide variant | NM_015331.3(NCSTN):c.1025G>A (p.Arg342Lys) | not provided [RCV002013757] | uncertain significance | 1 | 160352915 | 160352915 | Human | | name |
| 151882421 | CV1443206 | single nucleotide variant | NM_015331.3(NCSTN):c.1225C>G (p.Pro409Ala) | not provided [RCV002037136] | uncertain significance | 1 | 160354163 | 160354163 | Human | | name |
| 151786199 | CV1456229 | single nucleotide variant | NM_015331.3(NCSTN):c.1501C>G (p.Leu501Val) | not provided [RCV002046632] | uncertain significance | 1 | 160355908 | 160355908 | Human | | name |
| 151714620 | CV1457761 | single nucleotide variant | NM_015331.3(NCSTN):c.1071G>C (p.Glu357Asp) | not provided [RCV001964977] | uncertain significance | 1 | 160352961 | 160352961 | Human | | name |
| 151725111 | CV1462043 | single nucleotide variant | NM_015331.3(NCSTN):c.1237C>T (p.Leu413Phe) | not provided [RCV001966489] | uncertain significance | 1 | 160354175 | 160354175 | Human | | name |
| 151892395 | CV1481009 | single nucleotide variant | NM_015331.3(NCSTN):c.2087T>G (p.Val696Gly) | not provided [RCV001944068] | uncertain significance | 1 | 160358228 | 160358228 | Human | | name |
| 151877682 | CV1481103 | single nucleotide variant | NM_015331.3(NCSTN):c.1991C>G (p.Ala664Gly) | not provided [RCV001982113] | uncertain significance | 1 | 160357237 | 160357237 | Human | | name |
| 151892461 | CV1481145 | single nucleotide variant | NM_015331.3(NCSTN):c.1286G>A (p.Arg429Gln) | not provided [RCV001944137] | uncertain significance | 1 | 160354224 | 160354224 | Human | | name |
| 151846305 | CV1501762 | single nucleotide variant | NM_015331.3(NCSTN):c.1571G>A (p.Gly524Glu) | not provided [RCV002015957] | uncertain significance | 1 | 160356279 | 160356279 | Human | | name |
| 151710311 | CV1502195 | single nucleotide variant | NM_015331.3(NCSTN):c.1327G>C (p.Asp443His) | not provided [RCV001907860] | uncertain significance | 1 | 160354265 | 160354265 | Human | | name |
| 151774132 | CV1505016 | single nucleotide variant | NM_015331.3(NCSTN):c.1172G>A (p.Arg391Gln) | Inborn genetic diseases [RCV005382325]|not provided [RCV002009131] | likely benign|uncertain significance | 1 | 160353230 | 160353230 | Human | 1 | name |
| 151728602 | CV1505261 | single nucleotide variant | NM_015331.3(NCSTN):c.1856G>T (p.Arg619Leu) | not provided [RCV002021062] | uncertain significance | 1 | 160357102 | 160357102 | Human | | name |
| 151732096 | CV1512233 | single nucleotide variant | NM_015331.3(NCSTN):c.1163A>G (p.Glu388Gly) | not provided [RCV002021407] | uncertain significance | 1 | 160353221 | 160353221 | Human | | name |
| 151889298 | CV1516208 | single nucleotide variant | NM_015331.3(NCSTN):c.1070A>G (p.Glu357Gly) | Acne inversa, familial, 1 [RCV005397283]|not provided [RCV002038575] | uncertain significance | 1 | 160352960 | 160352960 | Human | 1 | name |
| 151869008 | CV1516716 | single nucleotide variant | NM_015331.3(NCSTN):c.1171C>T (p.Arg391Trp) | not provided [RCV001981060] | uncertain significance | 1 | 160353229 | 160353229 | Human | | name |
| 151870058 | CV1516859 | single nucleotide variant | NM_015331.3(NCSTN):c.1387A>G (p.Ile463Val) | not provided [RCV001981178] | uncertain significance | 1 | 160355689 | 160355689 | Human | | name |
| 151756380 | CV1517076 | single nucleotide variant | NM_015331.3(NCSTN):c.1893G>C (p.Leu631Phe) | not provided [RCV002043784] | uncertain significance | 1 | 160357139 | 160357139 | Human | | name |
| 152109225 | CV1556488 | single nucleotide variant | NM_015331.3(NCSTN):c.1199C>T (p.Thr400Ile) | Inborn genetic diseases [RCV003015317]|not provided [RCV002096616] | likely benign|uncertain significance | 1 | 160354137 | 160354137 | Human | 1 | name |
| 152103821 | CV1645361 | single nucleotide variant | NM_015331.3(NCSTN):c.2104C>T (p.Arg702Trp) | not provided [RCV002133598] | benign | 1 | 160358245 | 160358245 | Human | | name |
| 156412600 | CV1886778 | single nucleotide variant | NM_015331.3(NCSTN):c.2072A>G (p.Asn691Ser) | not provided [RCV003072960] | uncertain significance | 1 | 160358213 | 160358213 | Human | | name |
| 156229301 | CV1955922 | single nucleotide variant | NM_015331.3(NCSTN):c.1081T>G (p.Ser361Ala) | not provided [RCV002575811] | uncertain significance | 1 | 160352971 | 160352971 | Human | | name |
| 156170442 | CV1956244 | single nucleotide variant | NM_015331.3(NCSTN):c.1310C>T (p.Ser437Phe) | Inborn genetic diseases [RCV003250513]|not provided [RCV002573795] | uncertain significance | 1 | 160354248 | 160354248 | Human | 1 | name |
| 156414858 | CV1983045 | single nucleotide variant | NM_015331.3(NCSTN):c.2101C>T (p.Pro701Ser) | Inborn genetic diseases [RCV004065817]|not provided [RCV002609398] | uncertain significance | 1 | 160358242 | 160358242 | Human | 1 | name |
| 156209537 | CV1987062 | single nucleotide variant | NM_015331.3(NCSTN):c.1666G>A (p.Ala556Thr) | not provided [RCV002626027] | uncertain significance | 1 | 160356626 | 160356626 | Human | | name |
| 156077675 | CV2011863 | single nucleotide variant | NM_015331.3(NCSTN):c.1490C>T (p.Ala497Val) | Inborn genetic diseases [RCV005382459]|not provided [RCV002705885] | uncertain significance | 1 | 160355897 | 160355897 | Human | 1 | name |
| 156195217 | CV2024312 | single nucleotide variant | NM_015331.3(NCSTN):c.2101C>G (p.Pro701Ala) | not provided [RCV002711216] | uncertain significance | 1 | 160358242 | 160358242 | Human | | name |
| 156320288 | CV2025300 | single nucleotide variant | NM_015331.3(NCSTN):c.1829A>C (p.His610Pro) | Inborn genetic diseases [RCV003269263]|not provided [RCV002717045] | uncertain significance | 1 | 160357075 | 160357075 | Human | 1 | name |
| 156189126 | CV2030187 | single nucleotide variant | NM_015331.3(NCSTN):c.1047G>C (p.Lys349Asn) | not provided [RCV002765854] | uncertain significance | 1 | 160352937 | 160352937 | Human | | name |
| 156315145 | CV2031845 | single nucleotide variant | NM_015331.3(NCSTN):c.1813G>C (p.Val605Leu) | not provided [RCV002716755] | uncertain significance | 1 | 160357059 | 160357059 | Human | | name |
| 156217053 | CV2039185 | single nucleotide variant | NM_015331.3(NCSTN):c.1559G>A (p.Arg520His) | not provided [RCV002766842] | uncertain significance | 1 | 160356267 | 160356267 | Human | | name |
| 156207696 | CV2042344 | single nucleotide variant | NM_015331.3(NCSTN):c.1208A>C (p.Lys403Thr) | not provided [RCV002766479] | uncertain significance | 1 | 160354146 | 160354146 | Human | | name |
| 155968987 | CV2079098 | single nucleotide variant | NM_015331.3(NCSTN):c.1340C>T (p.Ala447Val) | not provided [RCV002881395] | uncertain significance | 1 | 160354278 | 160354278 | Human | | name |
| 156312967 | CV2107694 | single nucleotide variant | NM_015331.3(NCSTN):c.1568A>G (p.Tyr523Cys) | not provided [RCV002937280] | uncertain significance | 1 | 160356276 | 160356276 | Human | | name |
| 155940286 | CV2119785 | single nucleotide variant | NM_015331.3(NCSTN):c.1609A>G (p.Ile537Val) | not provided [RCV002971234] | uncertain significance | 1 | 160356317 | 160356317 | Human | | name |
| 155938048 | CV2146394 | single nucleotide variant | NM_015331.3(NCSTN):c.1155G>C (p.Gln385His) | not provided [RCV003014078] | uncertain significance | 1 | 160353213 | 160353213 | Human | | name |
| 156169078 | CV2169802 | single nucleotide variant | NM_015331.3(NCSTN):c.1118C>G (p.Ser373Ter) | not provided [RCV003023457] | pathogenic | 1 | 160353176 | 160353176 | Human | | name |
| 156128756 | CV2185844 | single nucleotide variant | NM_015331.3(NCSTN):c.1777C>T (p.Pro593Ser) | not provided [RCV003055756] | uncertain significance | 1 | 160356737 | 160356737 | Human | | name |
| 156140632 | CV2199869 | single nucleotide variant | NM_015331.3(NCSTN):c.1788C>A (p.Asn596Lys) | Inborn genetic diseases [RCV002641254] | uncertain significance | 1 | 160356748 | 160356748 | Human | 1 | name |
| 155993934 | CV2252422 | single nucleotide variant | NM_015331.3(NCSTN):c.1102G>C (p.Val368Leu) | Inborn genetic diseases [RCV002778791]|not provided [RCV005099669] | uncertain significance | 1 | 160353160 | 160353160 | Human | 1 | name |
| 156190629 | CV2255173 | single nucleotide variant | NM_015331.3(NCSTN):c.1850T>A (p.Leu617His) | Inborn genetic diseases [RCV002802822]|not provided [RCV005099658] | uncertain significance | 1 | 160357096 | 160357096 | Human | 1 | name |
| 156037942 | CV2259843 | single nucleotide variant | NM_015331.3(NCSTN):c.1745C>T (p.Thr582Ile) | Inborn genetic diseases [RCV002821535] | uncertain significance | 1 | 160356705 | 160356705 | Human | 1 | name |
| 12907372 | CV227203 | single nucleotide variant | NM_015331.3(NCSTN):c.1300C>T (p.Arg434Ter) | Acne inversa, familial, 1 [RCV000490379] | pathogenic | 1 | 160354238 | 160354238 | Human | 1 | name |
| 156060837 | CV2343804 | single nucleotide variant | NM_015331.3(NCSTN):c.1060G>A (p.Val354Met) | Inborn genetic diseases [RCV002978346] | uncertain significance | 1 | 160352950 | 160352950 | Human | 1 | name |
| 156010757 | CV2362167 | single nucleotide variant | NM_015331.3(NCSTN):c.1967T>C (p.Ile656Thr) | Inborn genetic diseases [RCV002997797]|not provided [RCV003720717] | uncertain significance | 1 | 160357213 | 160357213 | Human | 1 | name |
| 329396893 | CV2463606 | single nucleotide variant | NM_015331.3(NCSTN):c.1642G>C (p.Asp548His) | Inborn genetic diseases [RCV003195227] | uncertain significance | 1 | 160356602 | 160356602 | Human | 1 | name |
| 401736312 | CV2703105 | single nucleotide variant | NM_015331.3(NCSTN):c.1550C>T (p.Thr517Met) | Inborn genetic diseases [RCV003273142]|not provided [RCV003777057] | uncertain significance | 1 | 160355957 | 160355957 | Human | 1 | name |
| 401873536 | CV2749771 | single nucleotide variant | NM_015331.3(NCSTN):c.1295G>A (p.Arg432Gln) | not provided [RCV003332900] | uncertain significance | 1 | 160354233 | 160354233 | Human | | name |
| 401880234 | CV2769997 | single nucleotide variant | NM_015331.3(NCSTN):c.1889C>T (p.Ala630Val) | Inborn genetic diseases [RCV003364555] | uncertain significance | 1 | 160357135 | 160357135 | Human | 1 | name |
| 401861401 | CV2779711 | single nucleotide variant | NM_015331.3(NCSTN):c.1681A>G (p.Thr561Ala) | Inborn genetic diseases [RCV003357807] | uncertain significance | 1 | 160356641 | 160356641 | Human | 1 | name |
| 405213557 | CV2879441 | single nucleotide variant | NM_015331.3(NCSTN):c.1574T>C (p.Phe525Ser) | not provided [RCV003552923] | uncertain significance | 1 | 160356282 | 160356282 | Human | | name |
| 402520294 | CV2902673 | single nucleotide variant | NM_015331.3(NCSTN):c.1217C>T (p.Ala406Val) | not provided [RCV003575802] | uncertain significance | 1 | 160354155 | 160354155 | Human | | name |
| 402521363 | CV2902900 | single nucleotide variant | NM_015331.3(NCSTN):c.1268C>T (p.Pro423Leu) | not provided [RCV003575880] | uncertain significance | 1 | 160354206 | 160354206 | Human | | name |
| 402475368 | CV2920607 | single nucleotide variant | NM_015331.3(NCSTN):c.1289T>A (p.Phe430Tyr) | not provided [RCV003571335] | uncertain significance | 1 | 160354227 | 160354227 | Human | | name |
| 405185950 | CV2921358 | single nucleotide variant | NM_015331.3(NCSTN):c.1189C>T (p.Leu397Phe) | not provided [RCV003564455] | uncertain significance | 1 | 160354127 | 160354127 | Human | | name |
| 405005240 | CV2929376 | single nucleotide variant | NM_015331.3(NCSTN):c.1274C>A (p.Ser425Tyr) | not provided [RCV003576265] | uncertain significance | 1 | 160354212 | 160354212 | Human | | name |
| 402509157 | CV2938382 | single nucleotide variant | NM_015331.3(NCSTN):c.1466A>T (p.Asp489Val) | not provided [RCV003662317] | uncertain significance | 1 | 160355873 | 160355873 | Human | | name |
| 402521140 | CV2940129 | single nucleotide variant | NM_015331.3(NCSTN):c.1715C>T (p.Ala572Val) | not provided [RCV003663315] | uncertain significance | 1 | 160356675 | 160356675 | Human | | name |
| 405123452 | CV2942560 | single nucleotide variant | NM_015331.3(NCSTN):c.1108T>A (p.Leu370Ile) | not provided [RCV003671721] | uncertain significance | 1 | 160353166 | 160353166 | Human | | name |
| 405155449 | CV2949410 | single nucleotide variant | NM_015331.3(NCSTN):c.1283A>G (p.Gln428Arg) | not provided [RCV003674241] | uncertain significance | 1 | 160354221 | 160354221 | Human | | name |
| 405166364 | CV2954664 | single nucleotide variant | NM_015331.3(NCSTN):c.1405G>A (p.Glu469Lys) | not provided [RCV003675068] | uncertain significance | 1 | 160355707 | 160355707 | Human | | name |
| 405126015 | CV2958422 | single nucleotide variant | NM_015331.3(NCSTN):c.1318G>C (p.Val440Leu) | Inborn genetic diseases [RCV004953358]|not provided [RCV003667928] | uncertain significance | 1 | 160354256 | 160354256 | Human | 1 | name |
| 405147764 | CV2962849 | single nucleotide variant | NM_015331.3(NCSTN):c.1036G>A (p.Asp346Asn) | not provided [RCV003673775] | uncertain significance | 1 | 160352926 | 160352926 | Human | | name |
| 405191545 | CV2964908 | single nucleotide variant | NM_015331.3(NCSTN):c.1528A>G (p.Thr510Ala) | not provided [RCV003677246] | uncertain significance | 1 | 160355935 | 160355935 | Human | | name |
| 405203371 | CV2986086 | single nucleotide variant | NM_015331.3(NCSTN):c.1450G>A (p.Ala484Thr) | Inborn genetic diseases [RCV005377465]|not provided [RCV003678425] | uncertain significance | 1 | 160355752 | 160355752 | Human | 1 | name |
| 405204778 | CV2990633 | single nucleotide variant | NM_015331.3(NCSTN):c.1291C>A (p.Leu431Ile) | not provided [RCV003678592] | uncertain significance | 1 | 160354229 | 160354229 | Human | | name |
| 404991300 | CV2999307 | single nucleotide variant | NM_015331.3(NCSTN):c.2063A>G (p.Tyr688Cys) | not provided [RCV003692309] | uncertain significance | 1 | 160358204 | 160358204 | Human | | name |
| 405058789 | CV3019839 | single nucleotide variant | NM_015331.3(NCSTN):c.1121T>C (p.Leu374Ser) | not provided [RCV003697533] | uncertain significance | 1 | 160353179 | 160353179 | Human | | name |
| 405119537 | CV3030683 | single nucleotide variant | NM_015331.3(NCSTN):c.1613T>G (p.Leu538Arg) | not provided [RCV003700608] | uncertain significance | 1 | 160356321 | 160356321 | Human | | name |
| 405252925 | CV3044113 | single nucleotide variant | NM_015331.3(NCSTN):c.1970G>A (p.Arg657His) | not provided [RCV003722358] | uncertain significance | 1 | 160357216 | 160357216 | Human | | name |
| 405245332 | CV3051455 | single nucleotide variant | NM_015331.3(NCSTN):c.1916A>G (p.Gln639Arg) | not provided [RCV003720265] | uncertain significance | 1 | 160357162 | 160357162 | Human | | name |
| 405135155 | CV3052057 | single nucleotide variant | NM_015331.3(NCSTN):c.1487G>A (p.Arg496His) | not provided [RCV003725173] | uncertain significance | 1 | 160355894 | 160355894 | Human | | name |
| 405186838 | CV3058843 | single nucleotide variant | NM_015331.3(NCSTN):c.1375A>G (p.Thr459Ala) | not provided [RCV003729345] | uncertain significance | 1 | 160355677 | 160355677 | Human | | name |
| 402518431 | CV3135993 | single nucleotide variant | NM_015331.3(NCSTN):c.1990G>A (p.Ala664Thr) | Inborn genetic diseases [RCV004366832]|not provided [RCV003824619] | uncertain significance | 1 | 160357236 | 160357236 | Human | 1 | name |
| 405045250 | CV3137391 | single nucleotide variant | NM_015331.3(NCSTN):c.1211G>A (p.Ser404Asn) | not provided [RCV003831620] | uncertain significance | 1 | 160354149 | 160354149 | Human | | name |
| 405231865 | CV3144586 | single nucleotide variant | NM_015331.3(NCSTN):c.1156A>G (p.Lys386Glu) | not provided [RCV003853039] | uncertain significance | 1 | 160353214 | 160353214 | Human | | name |
| 405232868 | CV3144958 | single nucleotide variant | NM_015331.3(NCSTN):c.1428C>G (p.Asp476Glu) | not provided [RCV003853215] | uncertain significance | 1 | 160355730 | 160355730 | Human | | name |
| 405208944 | CV3145779 | single nucleotide variant | NM_015331.3(NCSTN):c.1576C>G (p.Leu526Val) | not provided [RCV003845509] | uncertain significance | 1 | 160356284 | 160356284 | Human | | name |
| 405210908 | CV3146269 | single nucleotide variant | NM_015331.3(NCSTN):c.1877G>A (p.Arg626Gln) | not provided [RCV003845800] | uncertain significance | 1 | 160357123 | 160357123 | Human | | name |
| 405207394 | CV3162112 | single nucleotide variant | NM_015331.3(NCSTN):c.1663A>G (p.Ile555Val) | not provided [RCV003861606] | uncertain significance | 1 | 160356623 | 160356623 | Human | | name |
| 402472451 | CV3171791 | single nucleotide variant | NM_015331.3(NCSTN):c.1410G>T (p.Trp470Cys) | not provided [RCV003874575] | uncertain significance | 1 | 160355712 | 160355712 | Human | | name |
| 405814300 | CV3341229 | single nucleotide variant | NM_015331.3(NCSTN):c.1617G>T (p.Arg539Ser) | Inborn genetic diseases [RCV004484304] | uncertain significance | 1 | 160356325 | 160356325 | Human | 1 | name |
| 405814363 | CV3341265 | single nucleotide variant | NM_015331.3(NCSTN):c.2011A>T (p.Ile671Phe) | Inborn genetic diseases [RCV004484340] | uncertain significance | 1 | 160358152 | 160358152 | Human | 1 | name |
| 408377595 | CV3501609 | single nucleotide variant | NM_015331.3(NCSTN):c.1294C>T (p.Arg432Ter) | not provided [RCV004727668] | pathogenic | 1 | 160354232 | 160354232 | Human | | name |
| 597720446 | CV3558874 | single nucleotide variant | NM_015331.3(NCSTN):c.1247C>G (p.Pro416Arg) | Inborn genetic diseases [RCV004961431] | uncertain significance | 1 | 160354185 | 160354185 | Human | 1 | name |
| 597720456 | CV3558877 | single nucleotide variant | NM_015331.3(NCSTN):c.1288T>C (p.Phe430Leu) | Inborn genetic diseases [RCV004961433] | uncertain significance | 1 | 160354226 | 160354226 | Human | 1 | name |
| 597720472 | CV3558880 | single nucleotide variant | NM_015331.3(NCSTN):c.1012A>G (p.Ile338Val) | Inborn genetic diseases [RCV004961436] | uncertain significance | 1 | 160352902 | 160352902 | Human | 1 | name |
| 597930925 | CV3745901 | single nucleotide variant | NM_015331.3(NCSTN):c.2095A>G (p.Ile699Val) | not provided [RCV005075886] | uncertain significance | 1 | 160358236 | 160358236 | Human | | name |
| 597856003 | CV3747993 | single nucleotide variant | NM_015331.3(NCSTN):c.2095A>C (p.Ile699Leu) | not provided [RCV005066814] | uncertain significance | 1 | 160358236 | 160358236 | Human | | name |
| 597856108 | CV3758750 | single nucleotide variant | NM_015331.3(NCSTN):c.1082C>T (p.Ser361Leu) | not provided [RCV005088710] | uncertain significance | 1 | 160352972 | 160352972 | Human | | name |
| 597852178 | CV3779072 | single nucleotide variant | NM_015331.3(NCSTN):c.1870A>G (p.Thr624Ala) | not provided [RCV005127149] | uncertain significance | 1 | 160357116 | 160357116 | Human | | name |
| 597853790 | CV3781979 | single nucleotide variant | NM_015331.3(NCSTN):c.1965T>G (p.Asp655Glu) | not provided [RCV005128471] | uncertain significance | 1 | 160357211 | 160357211 | Human | | name |
| 597841582 | CV3783494 | single nucleotide variant | NM_015331.3(NCSTN):c.2033G>C (p.Gly678Ala) | not provided [RCV005116182] | uncertain significance | 1 | 160358174 | 160358174 | Human | | name |
| 597855289 | CV3789735 | single nucleotide variant | NM_015331.3(NCSTN):c.1803G>C (p.Glu601Asp) | not provided [RCV005129830] | uncertain significance | 1 | 160357049 | 160357049 | Human | | name |
| 597883351 | CV3807930 | single nucleotide variant | NM_015331.3(NCSTN):c.1041G>A (p.Met347Ile) | not provided [RCV005158309] | uncertain significance | 1 | 160352931 | 160352931 | Human | | name |
| 597876339 | CV3809734 | single nucleotide variant | NM_015331.3(NCSTN):c.1645G>A (p.Gly549Arg) | not provided [RCV005151454] | uncertain significance | 1 | 160356605 | 160356605 | Human | | name |
| 597892486 | CV3812938 | single nucleotide variant | NM_015331.3(NCSTN):c.1991C>T (p.Ala664Val) | not provided [RCV005167391] | uncertain significance | 1 | 160357237 | 160357237 | Human | | name |
| 597885865 | CV3818847 | single nucleotide variant | NM_015331.3(NCSTN):c.1144C>G (p.Pro382Ala) | not provided [RCV005160917] | uncertain significance | 1 | 160353202 | 160353202 | Human | | name |
| 597889621 | CV3823631 | single nucleotide variant | NM_015331.3(NCSTN):c.1772A>G (p.Lys591Arg) | not provided [RCV005165051] | uncertain significance | 1 | 160356732 | 160356732 | Human | | name |
| 597890226 | CV3830536 | single nucleotide variant | NM_015331.3(NCSTN):c.1855C>T (p.Arg619Trp) | not provided [RCV005164676] | uncertain significance | 1 | 160357101 | 160357101 | Human | | name |
| 597916942 | CV3838476 | single nucleotide variant | NM_015331.3(NCSTN):c.1592A>G (p.Asn531Ser) | not provided [RCV005191851] | uncertain significance | 1 | 160356300 | 160356300 | Human | | name |
| 15180089 | CV731808 | single nucleotide variant | NM_015331.3(NCSTN):c.1525G>A (p.Asp509Asn) | not provided [RCV000907268] | benign | 1 | 160355932 | 160355932 | Human | | name |
| 8629031 | CV84174 | single nucleotide variant | NM_015331.2(NCSTN):c.1166C>T (p.Ser389Phe) | Malignant melanoma [RCV000064255] | not provided | 1 | 160353224 | 160353224 | Human | | name |
| 126749837 | CV987007 | single nucleotide variant | NM_015331.3(NCSTN):c.1955G>T (p.Arg652Leu) | not provided [RCV001297209] | uncertain significance | 1 | 160357201 | 160357201 | Human | | name |
| 408365314 | CV3499781 | deletion | NM_015331.3(NCSTN):c.344_351del (p.Thr115fs) | not provided [RCV004721825] | uncertain significance | 1 | 160349577 | 160349584 | Human | | name |
| 597879261 | CV3807037 | deletion | NM_015331.3(NCSTN):c.751_752del (p.Leu251fs) | not provided [RCV005154408] | pathogenic | 1 | 160351713 | 160351714 | Human | | name |
| 243050028 | CV2403766 | indel | NM_015331.3(NCSTN):c.1101_1101+17delinsTGTCCA | Acne inversa, familial, 1 [RCV003128285] | pathogenic | 1 | 160352991 | 160353008 | Human | | name |
| 156379339 | CV2117845 | deletion | NM_015331.3(NCSTN):c.115_126del (p.Lys39_Ile42del) | not provided [RCV002943018] | uncertain significance | 1 | 160344751 | 160344762 | Human | | name |
| 156319193 | CV2137936 | indel | NM_015331.3(NCSTN):c.1248_1249delinsGT (p.Asn417Tyr) | not provided [RCV002963086] | uncertain significance | 1 | 160354186 | 160354187 | Human | | name |
| 151789117 | CV1434385 | duplication | NM_015331.3(NCSTN):c.1419_1442dup (p.Glu474_Thr481dup) | not provided [RCV001876338] | uncertain significance | 1 | 160355719 | 160355720 | Human | | name |