| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| - |
no classification for the single variant |
rs672601309, rs672601310 |
- |
| Autosomal recessive spastic paraplegia type 59 |
Conflicting classifications of pathogenicity |
rs148244041 |
RCV004765340 |
| Hereditary spastic paraplegia |
Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity |
rs2051600642, rs762795803, rs1359249352, rs2141320965, rs1196856326, rs745444234, rs11638390, rs755591528, rs937524145, rs775130274, rs755050919, rs768167279, rs2141316371, rs1288098442, rs772655890, rs140695550, rs2141265920, rs746289412, rs1039670134, rs2141304804, rs766783893, rs2141323193, rs200945863, rs767210381, rs200789993, rs754921595, rs11632708, rs750843415, rs144363577, rs369842951, rs370736010, rs770928016, rs2141304977, rs776173241, rs139912757, rs116360546, rs78143971, rs74840283, rs748213555, rs750757919, rs749631353, rs937066808, rs2541983300, rs561403213, rs147121994, rs779520263, rs770689793, rs202174816, rs373460543, rs2541994045, rs2541953729, rs776747250, rs1361632003, rs79605999, rs768514589, rs747842448, rs1242509950, rs61751062, rs2542005706, rs183341645, rs1459873852, rs770957779, rs748219940, rs572018148, rs1052363268, rs2541964501, rs2051877801, rs774290227, rs373025012, rs369552458, rs1442958999, rs373171982, rs574797475, rs376852674, rs148200969, rs368365577, rs2541955105, rs370716283, rs2542000670, rs777660185, rs754311670, rs1186593531, rs2051784256, rs569932620, rs755896571, rs768800460, rs10220843, rs61733869, rs3743044, rs535741597, rs11857513, rs115970610, rs1555392171, rs202135045, rs147742292, rs752682936, rs3131561, rs79646551, rs150568948, rs761711198, rs371064052, rs143070181, rs761395751, rs778969876, rs898810598, rs114541731, rs150245386, rs148244041, rs142653887, rs113169913, rs192977674, rs375855680, rs187703744, rs141310097, rs199745319, rs370876235, rs141886945, rs199814360, rs534878262, rs374691987, rs199586071, rs1595985288, rs373704916, rs1322588568, rs144130206, rs2052386755, rs142928952, rs372108112, rs138148339, rs1318445105 View all (115 more) |
RCV001341214 RCV001348238 RCV001370618 RCV001415033 RCV001421989 RCV001497087 RCV001522628 RCV002003200 RCV001981784 RCV002004595 RCV001894769 RCV001926892 RCV001993947 RCV001978612 RCV001874863 RCV002013869 RCV001934338 RCV001889072 RCV001880873 RCV001875523 RCV001883586 RCV002027187 RCV002136910 RCV002135181 RCV002131003 RCV002124007 RCV002132490 RCV002117175 RCV002122260 RCV002118626 RCV002218779 RCV002105103 RCV002071817 RCV002160279 RCV002108514 RCV002132239 RCV002132358 RCV002139107 RCV003067338 RCV003063636 RCV003081208 RCV002581951 RCV002587949 RCV003122069 RCV002632108 RCV002640037 RCV002725829 RCV002742011 RCV002791222 RCV002843701 RCV002867115 RCV002926647 RCV002927408 RCV002933918 RCV002971231 RCV002952985 RCV002944106 RCV003057405 RCV003040732 RCV003534142 RCV003534178 RCV003534202 RCV003534228 RCV003534288 RCV003534235 RCV003531532 RCV003645993 RCV003646031 RCV003646013 RCV003646122 RCV003646279 RCV003646428 RCV003646438 RCV003646447 RCV003646604 RCV003646635 RCV003646789 RCV003646830 RCV003646845 RCV003646943 RCV003647084 RCV003647101 RCV003824106 RCV003842531 RCV003876093 RCV000532955 RCV000536150 RCV000559198 RCV000535635 RCV000542854 RCV000550889 RCV000557319 RCV000557543 RCV000633120 RCV000633121 RCV000633122 RCV000633119 RCV000633124 RCV000633123 RCV000633125 RCV000689968 RCV000700781 RCV000691735 RCV000798738 RCV000807610 RCV000815035 RCV000875327 RCV000874746 RCV000876098 RCV002064746 RCV001517106 RCV000872191 RCV000875024 RCV000871151 RCV000874042 RCV000876245 RCV000874525 RCV002548235 RCV000972040 RCV005092648 RCV000897089 RCV002548265 RCV005092919 RCV001431368 RCV001454764 RCV001069592 RCV001215011 RCV001205749 RCV001207175 RCV001213502 RCV001226138 RCV001246142 RCV001294286 |
| USP8-related disorder |
Uncertain significance; Benign; Likely benign |
rs574030216, rs148200969, rs115970610, rs150245386, rs192977674, rs370876235 |
RCV003399819 RCV003901267 RCV003915496 RCV003955736 RCV003908313 RCV003942989 |
|
| Disease Name |
Relationship Type |
References |
| ACTH Secreting Pituitary Adenoma |
Associate |
25675982, 26701869, 28487882, 30093687, 31162547, 31222332, 31280266, 32652004, 34061962, 40544420 |
| Adenocarcinoma |
Stimulate |
28544031 |
| Adenocarcinoma in Situ |
Associate |
28544031 |
| Adenocarcinoma of Lung |
Associate |
28544031 |
| Adenoma |
Associate |
25675982, 31162547, 31280266, 39684405, 39684597 |
| Adrenocortical Adenoma |
Associate |
26701869 |
| Alzheimer Disease |
Associate |
40382655 |
| Azoospermia |
Associate |
28975488 |
| Breast Neoplasms |
Associate |
29626091, 31527799, 35361778, 35811497 |
| Carcinoma Hepatocellular |
Associate |
37311739 |
| Carcinoma Non Small Cell Lung |
Associate |
35658874 |
| Carcinoma Renal Cell |
Associate |
37332045 |
| Carcinoma Squamous Cell |
Associate |
30010158, 31705877 |
| Cardiovascular Abnormalities |
Associate |
35205232 |
| Combined Pituitary Hormone Deficiency |
Associate |
35029852 |
| Crohn Disease |
Associate |
39684405 |
| Cushing Syndrome |
Associate |
35029852 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
34674795 |
| Genetic Diseases Inborn |
Associate |
31162547 |
| Glioblastoma |
Associate |
20484045 |
| Hypertension |
Associate |
35205232 |
| Hypothyroidism |
Associate |
35029852 |
| Infertility Male |
Associate |
28975488 |
| Lung Neoplasms |
Associate |
30010158 |
| Multiple Myeloma |
Associate |
22147262 |
| Nelson Syndrome |
Associate |
35563252 |
| Neoplasm Metastasis |
Associate |
35811497 |
| Neoplasms |
Associate |
25675982, 28487882, 28544031, 30010158, 30093687, 31162547, 31222332, 35029852, 35361778, 35563252, 35658874, 35668434, 35811497, 37065760, 37639742, 39684597, 40544420 View all (2 more) |
| Oligospermia |
Associate |
28975488 |
| Pancreatic Neoplasms |
Associate |
37639742 |
| Parkinson Disease |
Associate |
37981592 |
| Pituitary ACTH Hypersecretion |
Associate |
25675982, 25930709, 28487882, 28505279, 30093687, 31162547, 31222332, 33125691, 34489873, 34750505, 35029852, 35668434, 36123588, 39684405, 39684597 |
| Pituitary Diseases |
Associate |
35029852 |
| Pituitary Neoplasms |
Associate |
25675982, 25930709, 32652004, 34489873, 35668434, 40544420 |
| Vitiligo |
Associate |
37287971 |
|