| 8561335 | CV25096 | single nucleotide variant | NM_000194.3(HPRT1):c.28-2A>T | HPRT1-related disorder [RCV004549355]|Lesch-Nyhan syndrome [RCV000010757] | pathogenic | X | 134473357 | 134473357 | Human | 2 | name , trait , alternate_id |
| 401905559 | CV2831522 | single nucleotide variant | NM_000194.3(HPRT1):c.28-2A>G | Lesch-Nyhan syndrome [RCV003444515] | likely pathogenic | X | 134473357 | 134473357 | Human | 1 | name |
| 404994542 | CV3085286 | single nucleotide variant | NM_000194.3(HPRT1):c.27+7A>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003782817] | likely benign | X | 134460345 | 134460345 | Human | 1 | name , alternate_id |
| 597655929 | CV3729536 | single nucleotide variant | NM_000194.3(HPRT1):c.28-6T>C | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV005041606] | uncertain significance | X | 134473353 | 134473353 | Human | 1 | name , alternate_id |
| 126767661 | CV1035361 | single nucleotide variant | NM_000194.3(HPRT1):c.486-3C>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001342916] | pathogenic|uncertain significance | X | 134498387 | 134498387 | Human | 1 | name , alternate_id |
| 150493034 | CV1257471 | single nucleotide variant | NM_000194.3(HPRT1):c.135-101= | not provided [RCV001675144] | benign | X | 134475080 | 134475080 | Human | | name |
| 150441072 | CV1274300 | duplication | NM_000194.3(HPRT1):c.319-7dup | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002503152]|not provided [RCV001725234]|not specified [RCV001699649] | benign | X | 134486444 | 134486445 | Human | 1 | name , alternate_id |
| 152981501 | CV1676830 | single nucleotide variant | NM_000194.3(HPRT1):c.486-7T>G | not specified [RCV002247896] | uncertain significance | X | 134498383 | 134498383 | Human | | name |
| 152982432 | CV1677368 | single nucleotide variant | NM_000194.3(HPRT1):c.134+1G>C | Lesch-Nyhan syndrome [RCV002249075] | likely pathogenic | X | 134473466 | 134473466 | Human | 1 | name |
| 152982434 | CV1677369 | single nucleotide variant | NM_000194.3(HPRT1):c.384+1G>T | Lesch-Nyhan syndrome [RCV002249076] | likely pathogenic | X | 134486531 | 134486531 | Human | 1 | name |
| 9692991 | CV177771 | single nucleotide variant | NM_000194.3(HPRT1):c.532+2T>G | not provided [RCV000153368] | pathogenic | X | 134498438 | 134498438 | Human | | name |
| 156440827 | CV1940550 | duplication | NM_000194.3(HPRT1):c.610-5dup | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003110868] | benign | X | 134500016 | 134500017 | Human | 1 | name , alternate_id |
| 10048683 | CV194282 | deletion | NM_000194.3(HPRT1):c.319-7del | not provided [RCV001682889]|not specified [RCV000178061] | benign | X | 134486445 | 134486445 | Human | | name |
| 156411568 | CV1976380 | single nucleotide variant | NM_000194.3(HPRT1):c.385-5T>C | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002587532] | likely benign | X | 134490183 | 134490183 | Human | 1 | name , alternate_id |
| 156266768 | CV2092199 | deletion | NM_000194.3(HPRT1):c.28-14del | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002895787] | benign | X | 134473345 | 134473345 | Human | 1 | name , alternate_id |
| 8561332 | CV25093 | single nucleotide variant | NM_000194.3(HPRT1):c.609+5G>A | HPRT1-related disorder [RCV004545723]|Lesch-Nyhan syndrome [RCV000010754]|not provided [RCV001571220] | pathogenic|likely pathogenic|not provided | X | 134498689 | 134498689 | Human | 2 | name , trait , alternate_id |
| 8561334 | CV25095 | single nucleotide variant | NM_000194.3(HPRT1):c.532+5G>A | Lesch-Nyhan syndrome [RCV000010756] | pathogenic | X | 134498441 | 134498441 | Human | 1 | name |
| 401920036 | CV2796342 | single nucleotide variant | NM_000194.3(HPRT1):c.533-5T>G | HPRT1-related disorder [RCV003402422] | uncertain significance | X | 134498603 | 134498603 | Human | | name , trait , alternate_id |
| 405025708 | CV3082112 | single nucleotide variant | NM_000194.3(HPRT1):c.28-15A>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003785719] | likely benign | X | 134473344 | 134473344 | Human | 1 | name , alternate_id |
| 405030125 | CV3082617 | single nucleotide variant | NM_000194.3(HPRT1):c.27+19C>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003786069] | likely benign | X | 134460357 | 134460357 | Human | 1 | name , alternate_id |
| 404987107 | CV3083694 | single nucleotide variant | NM_000194.3(HPRT1):c.403-7T>A | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003782047] | likely benign | X | 134493501 | 134493501 | Human | 1 | name , alternate_id |
| 402497234 | CV3092730 | single nucleotide variant | NM_000194.3(HPRT1):c.28-19A>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003788193] | likely benign | X | 134473340 | 134473340 | Human | 1 | name , alternate_id |
| 405035915 | CV3093196 | single nucleotide variant | NM_000194.3(HPRT1):c.318+7A>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003786547] | likely benign | X | 134475371 | 134475371 | Human | 1 | name , alternate_id |
| 405051722 | CV3097892 | single nucleotide variant | NM_000194.3(HPRT1):c.402+8C>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003808305] | likely benign | X | 134490213 | 134490213 | Human | 1 | name , alternate_id |
| 404982479 | CV3100101 | single nucleotide variant | NM_000194.3(HPRT1):c.318+9A>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003791768] | likely benign | X | 134475373 | 134475373 | Human | 1 | name , alternate_id |
| 405064509 | CV3103130 | deletion | NM_000194.3(HPRT1):c.610-5del | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003799121] | benign | X | 134500017 | 134500017 | Human | 1 | name , alternate_id |
| 405012201 | CV3106384 | single nucleotide variant | NM_000194.3(HPRT1):c.28-13A>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003794721] | likely benign | X | 134473346 | 134473346 | Human | 1 | name , alternate_id |
| 405083189 | CV3107536 | single nucleotide variant | NM_000194.3(HPRT1):c.319-7T>C | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003800406] | likely benign | X | 134486458 | 134486458 | Human | 1 | name , alternate_id |
| 405066075 | CV3110899 | single nucleotide variant | NM_000194.3(HPRT1):c.610-4A>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003809403] | likely benign | X | 134500026 | 134500026 | Human | 1 | name , alternate_id |
| 405082906 | CV3113550 | single nucleotide variant | NM_000194.3(HPRT1):c.27+19C>T | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003810567] | likely benign | X | 134460357 | 134460357 | Human | 1 | name , alternate_id |
| 405104633 | CV3114446 | single nucleotide variant | NM_000194.3(HPRT1):c.27+12G>A | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003812285] | likely benign | X | 134460350 | 134460350 | Human | 1 | name , alternate_id |
| 407425539 | CV3411302 | single nucleotide variant | NM_000194.3(HPRT1):c.532+1G>A | not provided [RCV004588993] | pathogenic | X | 134498437 | 134498437 | Human | | name |
| 408392165 | CV3526506 | single nucleotide variant | NM_000194.3(HPRT1):c.384+5G>T | not provided [RCV004775755] | uncertain significance | X | 134486535 | 134486535 | Human | | name |
| 596939961 | CV3550718 | single nucleotide variant | NM_000194.3(HPRT1):c.610-3T>A | not provided [RCV004814618] | uncertain significance | X | 134500027 | 134500027 | Human | | name |
| 597922446 | CV3867297 | single nucleotide variant | NM_000194.3(HPRT1):c.385-2A>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV005223723] | pathogenic | X | 134490186 | 134490186 | Human | 1 | name , alternate_id |
| 597922469 | CV3867300 | single nucleotide variant | NM_000194.3(HPRT1):c.610-1G>A | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV005223726] | pathogenic | X | 134500029 | 134500029 | Human | 1 | name , alternate_id |
| 13214585 | CV430652 | single nucleotide variant | NM_000194.3(HPRT1):c.384+9C>T | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001511369]|not specified [RCV000501452] | benign|uncertain significance | X | 134486539 | 134486539 | Human | 1 | name , alternate_id |
| 14705208 | CV653438 | single nucleotide variant | NM_000194.3(HPRT1):c.319-2A>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000800143] | pathogenic | X | 134486463 | 134486463 | Human | 1 | name , alternate_id |
| 26923181 | CV851938 | single nucleotide variant | NM_000194.3(HPRT1):c.486-2A>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001063460] | pathogenic|likely pathogenic | X | 134498388 | 134498388 | Human | 1 | name , alternate_id |
| 41408259 | CV980816 | single nucleotide variant | NM_000194.3(HPRT1):c.533-1G>A | not provided [RCV001281641] | pathogenic | X | 134498607 | 134498607 | Human | | name |
| 8639528 | CV98511 | single nucleotide variant | NM_000194.3(HPRT1):c.384+1G>A | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV005222740]|not provided [RCV000344145] | pathogenic | X | 134486531 | 134486531 | Human | 1 | name , alternate_id |
| 8639529 | CV98512 | single nucleotide variant | NM_000194.3(HPRT1):c.486-1G>A | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001854376]|not provided [RCV000078345] | pathogenic | X | 134498389 | 134498389 | Human | 1 | name , alternate_id |
| 127293028 | CV1159368 | single nucleotide variant | NM_000194.3(HPRT1):c.384+19A>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001511127] | benign|likely benign | X | 134486549 | 134486549 | Human | 1 | name , alternate_id |
| 150439383 | CV1275195 | single nucleotide variant | NM_000194.3(HPRT1):c.486-11G>A | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001703326]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002539712]|not provided [RCV003438868] | benign|likely benign | X | 134498379 | 134498379 | Human | 1 | name , alternate_id |
| 150521190 | CV1290940 | single nucleotide variant | NM_000194.3(HPRT1):c.532+45C>A | not provided [RCV001732560] | likely benign | X | 134498481 | 134498481 | Human | | name |
| 151233108 | CV1317715 | single nucleotide variant | NM_000194.3(HPRT1):c.28-208A>G | not provided [RCV001787481] | likely benign | X | 134473151 | 134473151 | Human | | name |
| 152152484 | CV1631059 | single nucleotide variant | NM_000194.3(HPRT1):c.609+14T>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002139731] | likely benign | X | 134498698 | 134498698 | Human | 1 | name , alternate_id |
| 156219546 | CV1924808 | single nucleotide variant | NM_000194.3(HPRT1):c.609+20T>C | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002644347] | benign | X | 134498704 | 134498704 | Human | 1 | name , alternate_id |
| 156158059 | CV1928312 | single nucleotide variant | NM_000194.3(HPRT1):c.319-16T>A | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002664138] | likely benign | X | 134486449 | 134486449 | Human | 1 | name , alternate_id |
| 156165321 | CV1929943 | single nucleotide variant | NM_000194.3(HPRT1):c.134+18A>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002624528] | likely benign|conflicting interpretations of pathogenicity | X | 134473483 | 134473483 | Human | 1 | name , alternate_id |
| 156203235 | CV2021322 | single nucleotide variant | NM_000194.3(HPRT1):c.403-12C>A | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002711476] | benign | X | 134493496 | 134493496 | Human | 1 | name , alternate_id |
| 401924513 | CV2804907 | single nucleotide variant | NM_000194.3(HPRT1):c.319-18T>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003778343]|not specified [RCV003404724] | likely benign | X | 134486447 | 134486447 | Human | 1 | name , alternate_id |
| 402517401 | CV3089927 | single nucleotide variant | NM_000194.3(HPRT1):c.319-17T>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003780805] | likely benign | X | 134486448 | 134486448 | Human | 1 | name , alternate_id |
| 405018570 | CV3094402 | single nucleotide variant | NM_000194.3(HPRT1):c.403-17G>A | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003785092] | likely benign | X | 134493491 | 134493491 | Human | 1 | name , alternate_id |
| 405011288 | CV3096684 | single nucleotide variant | NM_000194.3(HPRT1):c.384+13A>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003794673] | likely benign | X | 134486543 | 134486543 | Human | 1 | name , alternate_id |
| 404980708 | CV3099636 | single nucleotide variant | NM_000194.3(HPRT1):c.532+20T>C | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003791465] | likely benign | X | 134498456 | 134498456 | Human | 1 | name , alternate_id |
| 405072899 | CV3099934 | single nucleotide variant | NM_000194.3(HPRT1):c.533-11A>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003799649] | likely benign | X | 134498597 | 134498597 | Human | 1 | name , alternate_id |
| 405018944 | CV3100910 | duplication | NM_000194.3(HPRT1):c.486-12dup | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003805658] | benign | X | 134498374 | 134498375 | Human | 1 | name , alternate_id |
| 405069378 | CV3103593 | single nucleotide variant | NM_000194.3(HPRT1):c.384+11T>C | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003799423] | likely benign | X | 134486541 | 134486541 | Human | 1 | name , alternate_id |
| 405089271 | CV3104971 | single nucleotide variant | NM_000194.3(HPRT1):c.318+18A>C | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003800854] | likely benign | X | 134475382 | 134475382 | Human | 1 | name , alternate_id |
| 405034497 | CV3106063 | single nucleotide variant | NM_000194.3(HPRT1):c.134+12C>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003796753] | likely benign | X | 134473477 | 134473477 | Human | 1 | name , alternate_id |
| 405083065 | CV3107526 | single nucleotide variant | NM_000194.3(HPRT1):c.533-13T>C | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003800396] | likely benign | X | 134498595 | 134498595 | Human | 1 | name , alternate_id |
| 405064767 | CV3108901 | single nucleotide variant | NM_000194.3(HPRT1):c.532+18T>C | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003809311] | likely benign | X | 134498454 | 134498454 | Human | 1 | name , alternate_id |
| 405012019 | CV3109204 | single nucleotide variant | NM_000194.3(HPRT1):c.485+15T>A | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003804872] | likely benign | X | 134493605 | 134493605 | Human | 1 | name , alternate_id |
| 405106286 | CV3113399 | single nucleotide variant | NM_000194.3(HPRT1):c.533-12G>T | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003812691] | likely benign | X | 134498596 | 134498596 | Human | 1 | name , alternate_id |
| 405012244 | CV3113972 | single nucleotide variant | NM_000194.3(HPRT1):c.319-16T>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003804994] | likely benign | X | 134486449 | 134486449 | Human | 1 | name , alternate_id |
| 150405423 | CV1178679 | single nucleotide variant | NM_000194.3(HPRT1):c.319-213C>G | not provided [RCV001544858] | likely benign | X | 134486252 | 134486252 | Human | | name |
| 150406782 | CV1195699 | single nucleotide variant | NM_000194.3(HPRT1):c.485+862G>A | not provided [RCV001572129] | likely benign | X | 134494452 | 134494452 | Human | | name |
| 150432850 | CV1200840 | single nucleotide variant | NM_000194.3(HPRT1):c.384+147G>A | not provided [RCV001581564] | likely benign | X | 134486677 | 134486677 | Human | | name |
| 150478040 | CV1207599 | single nucleotide variant | NM_000194.3(HPRT1):c.403-228C>T | not provided [RCV001589875] | likely benign | X | 134493280 | 134493280 | Human | | name |
| 150483012 | CV1210062 | single nucleotide variant | NM_000194.3(HPRT1):c.319-124C>A | not provided [RCV001590761] | likely benign | X | 134486341 | 134486341 | Human | | name |
| 150516417 | CV1228346 | single nucleotide variant | NM_000194.3(HPRT1):c.610-221A>C | not provided [RCV001639152] | benign | X | 134499809 | 134499809 | Human | | name |
| 150460543 | CV1269817 | duplication | NM_000194.3(HPRT1):c.384+304dup | not provided [RCV001693520] | benign | X | 134486818 | 134486819 | Human | | name |
| 150489348 | CV1278936 | single nucleotide variant | NM_000194.3(HPRT1):c.485+291A>G | not provided [RCV001716273] | benign | X | 134493881 | 134493881 | Human | | name |
| 151233179 | CV1316995 | duplication | NM_000194.3(HPRT1):c.135-121dup | not provided [RCV001786815] | likely benign | X | 134475047 | 134475048 | Human | | name |
| 8561328 | CV25089 | microsatellite | NM_000194.3(HPRT1):c.317_318del | Lesch-Nyhan syndrome [RCV000010750] | pathogenic | X | 134475362 | 134475363 | Human | | name |
| 150426348 | CV1189059 | single nucleotide variant | NM_000194.3(HPRT1):c.402+1346G>A | not provided [RCV001559462] | likely benign | X | 134491551 | 134491551 | Human | | name |
| 401929506 | CV2824046 | single nucleotide variant | NM_000194.3(HPRT1):c.318+3362C>T | not provided [RCV003439878] | likely benign | X | 134478726 | 134478726 | Human | | name |
| 405004562 | CV3082681 | single nucleotide variant | NM_000194.3(HPRT1):c.402+1229A>G | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003783780] | likely pathogenic | X | 134491434 | 134491434 | Human | 1 | name , alternate_id |
| 26887952 | CV853027 | deletion | NM_000194.3(HPRT1):c.22_27+28del | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001045083] | pathogenic | X | 134460325 | 134460358 | Human | 1 | name , alternate_id |
| 150455320 | CV1232430 | microsatellite | NM_000194.3(HPRT1):c.402+297TA[6] | not provided [RCV001648444] | benign | X | 134490502 | 134490503 | Human | | name |
| 151235902 | CV1319330 | microsatellite | NM_000194.3(HPRT1):c.402+297TA[5] | not provided [RCV001797275] | likely benign | X | 134490502 | 134490505 | Human | | name |
| 151801223 | CV1404086 | deletion | NM_000194.3(HPRT1):c.532+1_532+2del | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001973926] | likely pathogenic | X | 134498436 | 134498437 | Human | 1 | name , alternate_id |
| 153301584 | CV1687866 | duplication | NM_000194.3(HPRT1):c.319-8_319-7dup | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002505904]|not provided [RCV002265092] | likely benign | X | 134486444 | 134486445 | Human | 1 | name , alternate_id |
| 155952347 | CV1900047 | deletion | NM_000194.3(HPRT1):c.610-6_610-5del | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003095401] | benign | X | 134500017 | 134500018 | Human | 1 | name , alternate_id |
| 10050620 | CV192197 | microsatellite | NM_000194.3(HPRT1):c.134+6_134+9del | HPRT1-related disorder [RCV003927605]|Lesch-Nyhan syndrome [RCV000990948]|Nephrolithiasis/nephrocalcinosis [RCV004020081]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002054069]|not provided [RCV000175546] | benign|likely benign|uncertain significance | X | 134473466 | 134473469 | Human | | name , trait , alternate_id |
| 405276488 | CV3198550 | duplication | NM_000194.3(HPRT1):c.319-9_319-7dup | HPRT1-related disorder [RCV003903880] | likely benign | X | 134486444 | 134486445 | Human | | name , trait , alternate_id |
| 597840835 | CV3873598 | single nucleotide variant | NM_000194.3(HPRT1):c.9C>T (p.Thr3=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV005226425] | likely benign | X | 134460320 | 134460320 | Human | 1 | name , alternate_id |
| 8561347 | CV25122 | deletion | NM_000194.2(HPRT1):c.-707_27+2236del | Lesch-Nyhan syndrome [RCV000010795] | pathogenic | X | 134459640 | 134462574 | Human | 1 | name |
| 402510434 | CV3087060 | single nucleotide variant | NM_000194.3(HPRT1):c.21C>A (p.Gly7=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003789570] | likely benign | X | 134460332 | 134460332 | Human | 1 | name , alternate_id |
| 405058251 | CV3108229 | single nucleotide variant | NM_000194.3(HPRT1):c.24C>G (p.Val8=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003808807] | likely benign | X | 134460335 | 134460335 | Human | 1 | name , alternate_id |
| 405124881 | CV3111803 | single nucleotide variant | NM_000194.3(HPRT1):c.21C>T (p.Gly7=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003815276] | likely benign | X | 134460332 | 134460332 | Human | 1 | name , alternate_id |
| 152102969 | CV1571782 | single nucleotide variant | NM_000194.3(HPRT1):c.69C>T (p.Cys23=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002173343] | likely benign | X | 134473400 | 134473400 | Human | 1 | name , alternate_id |
| 153348404 | CV1692418 | single nucleotide variant | NM_000194.3(HPRT1):c.1A>G (p.Met1Val) | Lesch-Nyhan syndrome [RCV002274283] | pathogenic | X | 134460312 | 134460312 | Human | 1 | name |
| 405095361 | CV3105617 | single nucleotide variant | NM_000194.3(HPRT1):c.57T>G (p.Leu19=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003801334] | likely benign | X | 134473388 | 134473388 | Human | 1 | name , alternate_id |
| 597655920 | CV3729535 | single nucleotide variant | NM_000194.3(HPRT1):c.4G>T (p.Ala2Ser) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV005041605] | uncertain significance | X | 134460315 | 134460315 | Human | 1 | name , alternate_id |
| 151788160 | CV1510190 | single nucleotide variant | NM_000194.3(HPRT1):c.23T>G (p.Val8Gly) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001916548] | uncertain significance | X | 134460334 | 134460334 | Human | 1 | name , alternate_id |
| 152046187 | CV1548178 | single nucleotide variant | NM_000194.3(HPRT1):c.159G>A (p.Val53=) | HPRT1-related disorder [RCV003951164]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002071617] | likely benign | X | 134475205 | 134475205 | Human | 2 | name , trait , alternate_id |
| 156350203 | CV1978254 | single nucleotide variant | NM_000194.3(HPRT1):c.204C>G (p.Leu68=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002601767] | likely benign | X | 134475250 | 134475250 | Human | 1 | name , alternate_id |
| 156106563 | CV2089140 | single nucleotide variant | NM_000194.3(HPRT1):c.117T>C (p.His39=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002848278] | likely benign | X | 134473448 | 134473448 | Human | 1 | name , alternate_id |
| 404994301 | CV3085261 | deletion | NM_000194.3(HPRT1):c.42del (p.Glu14fs) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003782792] | pathogenic | X | 134473372 | 134473372 | Human | 1 | name , alternate_id |
| 402516656 | CV3087740 | single nucleotide variant | NM_000194.3(HPRT1):c.258T>C (p.Asn86=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003790092] | likely benign | X | 134475304 | 134475304 | Human | 1 | name , alternate_id |
| 402511608 | CV3089296 | single nucleotide variant | NM_000194.3(HPRT1):c.261A>G (p.Arg87=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003780328] | likely benign | X | 134475307 | 134475307 | Human | 1 | name , alternate_id |
| 402503725 | CV3090107 | insertion | NM_000194.3(HPRT1):c.319-19_319-18insG | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003788874] | likely benign | X | 134486446 | 134486447 | Human | 1 | name , alternate_id |
| 402487397 | CV3090510 | single nucleotide variant | NM_000194.3(HPRT1):c.102G>A (p.Arg34=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003787172] | likely benign | X | 134473433 | 134473433 | Human | 1 | name , alternate_id |
| 402488436 | CV3094233 | single nucleotide variant | NM_000194.3(HPRT1):c.141A>G (p.Glu47=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003787275] | likely benign | X | 134475187 | 134475187 | Human | 1 | name , alternate_id |
| 405032313 | CV3095366 | single nucleotide variant | NM_000194.3(HPRT1):c.22G>A (p.Val8Ile) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003796572] | uncertain significance | X | 134460333 | 134460333 | Human | 1 | name , alternate_id |
| 404979049 | CV3099326 | insertion | NM_000194.3(HPRT1):c.319-18_319-17insG | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003791154] | likely benign | X | 134486447 | 134486448 | Human | 1 | name , alternate_id |
| 405072882 | CV3099933 | single nucleotide variant | NM_000194.3(HPRT1):c.174A>T (p.Gly58=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003799648] | likely benign | X | 134475220 | 134475220 | Human | 1 | name , alternate_id |
| 404978947 | CV3103184 | single nucleotide variant | NM_000194.3(HPRT1):c.231C>T (p.Asp77=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003791127] | benign | X | 134475277 | 134475277 | Human | 1 | name , alternate_id |
| 405095923 | CV3105670 | single nucleotide variant | NM_000194.3(HPRT1):c.177C>T (p.Gly59=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003801387] | likely benign | X | 134475223 | 134475223 | Human | 1 | name , alternate_id |
| 597866642 | CV3868953 | single nucleotide variant | NM_000194.3(HPRT1):c.150T>A (p.Ala50=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV005215074] | likely benign | X | 134475196 | 134475196 | Human | 1 | name , alternate_id |
| 126734867 | CV1001228 | single nucleotide variant | NM_000194.3(HPRT1):c.624T>C (p.Ile208=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV005225366]|not provided [RCV001311406] | likely benign | X | 134500044 | 134500044 | Human | 1 | name , alternate_id |
| 150411505 | CV1196308 | single nucleotide variant | NM_000194.3(HPRT1):c.77A>C (p.Asn26Thr) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002495917]|not provided [RCV001573724]|not specified [RCV001821908] | uncertain significance | X | 134473408 | 134473408 | Human | 1 | name , alternate_id |
| 151852853 | CV1376166 | single nucleotide variant | NM_000194.3(HPRT1):c.546A>G (p.Glu182=) | HPRT1-related disorder [RCV003408064]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001996184] | likely benign|uncertain significance | X | 134498621 | 134498621 | Human | 2 | name , trait , alternate_id |
| 151812495 | CV1498066 | single nucleotide variant | NM_000194.3(HPRT1):c.53A>G (p.Asp18Gly) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001953964] | uncertain significance | X | 134473384 | 134473384 | Human | 1 | name , alternate_id |
| 152123381 | CV1546209 | single nucleotide variant | NM_000194.3(HPRT1):c.508C>A (p.Arg170=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002118131] | benign | X | 134498412 | 134498412 | Human | 1 | name , alternate_id |
| 152063747 | CV1575231 | single nucleotide variant | NM_000194.3(HPRT1):c.522T>C (p.Tyr174=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002110461] | benign | X | 134498426 | 134498426 | Human | 1 | name , alternate_id |
| 9688694 | CV177770 | duplication | NM_000194.3(HPRT1):c.212dup (p.Tyr72fs) | Lesch-Nyhan syndrome [RCV001198061]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001229151]|not provided [RCV000153367] | pathogenic | X | 134475252 | 134475253 | Human | 2 | name , alternate_id |
| 156185332 | CV1878393 | deletion | NM_000194.3(HPRT1):c.212del (p.Gly71fs) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003041482] | pathogenic | X | 134475253 | 134475253 | Human | 1 | name , alternate_id |
| 10048952 | CV195218 | single nucleotide variant | NM_000194.3(HPRT1):c.480C>T (p.Val160=) | Nephrolithiasis/nephrocalcinosis [RCV004020140]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001511128]|not specified [RCV000179272] | benign | X | 134493585 | 134493585 | Human | 2 | name , alternate_id |
| 156070088 | CV2051030 | single nucleotide variant | NM_000194.3(HPRT1):c.615T>C (p.Val205=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002797377] | likely benign | X | 134500035 | 134500035 | Human | 1 | name , alternate_id |
| 156290510 | CV2192336 | single nucleotide variant | NM_000194.3(HPRT1):c.34G>T (p.Asp12Tyr) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003045123] | uncertain significance | X | 134473365 | 134473365 | Human | 1 | name , alternate_id |
| 8561329 | CV25090 | deletion | NM_000194.3(HPRT1):c.126del (p.Met43fs) | Lesch-Nyhan syndrome [RCV000010751] | pathogenic | X | 134473456 | 134473456 | Human | 1 | name |
| 8598484 | CV25113 | single nucleotide variant | NM_000194.2(HPRT1):c.46G>A (p.Gly16Ser) | HPRT URANGAN [RCV000010778]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010777] | pathogenic|other | X | 134473377 | 134473377 | Human | 1 | name , alternate_id |
| 404992822 | CV3084333 | single nucleotide variant | NM_000194.3(HPRT1):c.399G>A (p.Val133=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003782526] | likely benign | X | 134490202 | 134490202 | Human | 1 | name , alternate_id |
| 405017628 | CV3091622 | single nucleotide variant | NM_000194.3(HPRT1):c.504C>T (p.Thr168=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003795289] | likely benign | X | 134498408 | 134498408 | Human | 1 | name , alternate_id |
| 402495662 | CV3092437 | insertion | NM_000194.3(HPRT1):c.319-17_319-16insCT | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003788057] | likely benign | X | 134486447 | 134486448 | Human | 1 | name , alternate_id |
| 405016541 | CV3094024 | single nucleotide variant | NM_000194.3(HPRT1):c.417T>C (p.Thr139=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003784874] | likely benign | X | 134493522 | 134493522 | Human | 1 | name , alternate_id |
| 405053736 | CV3094977 | single nucleotide variant | NM_000194.3(HPRT1):c.492G>C (p.Leu164=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003798291] | likely benign | X | 134498396 | 134498396 | Human | 1 | name , alternate_id |
| 404987568 | CV3096997 | single nucleotide variant | NM_000194.3(HPRT1):c.77A>G (p.Asn26Ser) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003792386] | uncertain significance | X | 134473408 | 134473408 | Human | 1 | name , alternate_id |
| 405086589 | CV3107956 | single nucleotide variant | NM_000194.3(HPRT1):c.420C>A (p.Gly140=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003800654] | benign | X | 134493525 | 134493525 | Human | 1 | name , alternate_id |
| 405065806 | CV3108974 | single nucleotide variant | NM_000194.3(HPRT1):c.519A>C (p.Gly173=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003809384] | likely benign | X | 134498423 | 134498423 | Human | 1 | name , alternate_id |
| 405154263 | CV3110283 | single nucleotide variant | NM_000194.3(HPRT1):c.391T>C (p.Leu131=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003817804] | likely benign | X | 134490194 | 134490194 | Human | 1 | name , alternate_id |
| 405155259 | CV3110358 | insertion | NM_000194.3(HPRT1):c.319-19_319-18insGT | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003817879] | likely benign | X | 134486445 | 134486446 | Human | 1 | name , alternate_id |
| 405068177 | CV3111063 | single nucleotide variant | NM_000194.3(HPRT1):c.336G>A (p.Gly112=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003809567] | likely benign | X | 134486482 | 134486482 | Human | 1 | name , alternate_id |
| 405688349 | CV3228523 | single nucleotide variant | NM_000194.3(HPRT1):c.70A>T (p.Ile24Leu) | Lesch-Nyhan syndrome [RCV004006255] | uncertain significance | X | 134473401 | 134473401 | Human | 1 | name |
| 597655942 | CV3729537 | single nucleotide variant | NM_000194.3(HPRT1):c.47G>C (p.Gly16Ala) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV005041607] | likely pathogenic | X | 134473378 | 134473378 | Human | 1 | name , alternate_id |
| 597834724 | CV3864324 | single nucleotide variant | NM_000194.3(HPRT1):c.441T>C (p.Leu147=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV005209960] | likely benign | X | 134493546 | 134493546 | Human | 1 | name , alternate_id |
| 597850829 | CV3873318 | single nucleotide variant | NM_000194.3(HPRT1):c.97G>A (p.Glu33Lys) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV005212760] | uncertain significance | X | 134473428 | 134473428 | Human | 1 | name , alternate_id |
| 597841368 | CV3873712 | single nucleotide variant | NM_000194.3(HPRT1):c.444C>T (p.Ser148=) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV005226539] | likely benign | X | 134493549 | 134493549 | Human | 1 | name , alternate_id |
| 598125602 | CV3885835 | single nucleotide variant | NM_000194.3(HPRT1):c.35A>G (p.Asp12Gly) | not provided [RCV005241638] | uncertain significance | X | 134473366 | 134473366 | Human | | name |
| 13210879 | CV424675 | single nucleotide variant | NM_000194.3(HPRT1):c.47G>T (p.Gly16Val) | Lesch-Nyhan syndrome [RCV000496113] | pathogenic | X | 134473378 | 134473378 | Human | 1 | name |
| 127243577 | CV1056732 | deletion | NM_000194.3(HPRT1):c.-12_1del (p.Met1fs) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001377126]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002280824] | pathogenic|likely pathogenic | X | 134460300 | 134460312 | Human | 1 | name , alternate_id |
| 127261798 | CV1065163 | single nucleotide variant | NM_000194.3(HPRT1):c.212G>T (p.Gly71Val) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001387578] | pathogenic | X | 134475258 | 134475258 | Human | 1 | name , alternate_id |
| 151884873 | CV1364070 | duplication | NM_000194.3(HPRT1):c.472dup (p.Val158fs) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002037640] | pathogenic | X | 134493575 | 134493576 | Human | 1 | name , alternate_id |
| 151884759 | CV1366900 | deletion | NM_000194.3(HPRT1):c.11_17del (p.Arg4fs) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001941798] | pathogenic | X | 134460319 | 134460325 | Human | 1 | name , alternate_id |
| 151711463 | CV1373724 | single nucleotide variant | NM_000194.3(HPRT1):c.118G>T (p.Gly40Ter) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001889471] | pathogenic | X | 134473449 | 134473449 | Human | 1 | name , alternate_id |
| 151774721 | CV1455685 | single nucleotide variant | NM_000194.3(HPRT1):c.191C>A (p.Ala64Asp) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002045579] | uncertain significance | X | 134475237 | 134475237 | Human | 1 | name , alternate_id |
| 152983055 | CV1677898 | single nucleotide variant | NM_000194.3(HPRT1):c.233T>C (p.Leu78Pro) | Lesch-Nyhan syndrome [RCV002250052] | pathogenic | X | 134475279 | 134475279 | Human | 1 | name |
| 155642027 | CV1707216 | single nucleotide variant | NM_000194.3(HPRT1):c.203T>C (p.Leu68Pro) | not provided [RCV002288146] | pathogenic | X | 134475249 | 134475249 | Human | | name |
| 155642395 | CV1710136 | single nucleotide variant | NM_000194.3(HPRT1):c.240T>G (p.Asp80Glu) | not provided [RCV002293234] | likely pathogenic|uncertain significance | X | 134475286 | 134475286 | Human | | name |
| 155718406 | CV1775516 | single nucleotide variant | NM_000194.3(HPRT1):c.184A>G (p.Ile62Val) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002301177] | uncertain significance | X | 134475230 | 134475230 | Human | 1 | name , alternate_id |
| 155682107 | CV1829790 | single nucleotide variant | NM_000194.3(HPRT1):c.140A>T (p.Glu47Val) | Nephrolithiasis/nephrocalcinosis [RCV004057171] | likely pathogenic | X | 134475186 | 134475186 | Human | 1 | name |
| 156102878 | CV2099352 | single nucleotide variant | NM_000194.3(HPRT1):c.139G>C (p.Glu47Gln) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002913470] | uncertain significance | X | 134475185 | 134475185 | Human | 1 | name , alternate_id |
| 8598460 | CV25069 | single nucleotide variant | NM_000194.2(HPRT1):c.239A>T (p.Asp80Val) | HPRT ARLINGTON [RCV000010715]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010714]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001851783] | pathogenic|likely pathogenic|other | X | 134475285 | 134475285 | Human | 2 | name , alternate_id |
| 8598462 | CV25073 | single nucleotide variant | NM_000194.2(HPRT1):c.122T>C (p.Leu41Pro) | HPRT DETROIT [RCV000010723]|Lesch-Nyhan syndrome [RCV000010722] | pathogenic|other | X | 134473453 | 134473453 | Human | 1 | name |
| 8598464 | CV25075 | single nucleotide variant | NM_000194.2(HPRT1):c.222C>A (p.Phe74Leu) | HPRT FLINT [RCV000010727]|Lesch-Nyhan syndrome [RCV000010726] | pathogenic|other | X | 134475268 | 134475268 | Human | 1 | name |
| 8598471 | CV25083 | single nucleotide variant | NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu) | HPRT NEW HAVEN [RCV000010743]|Lesch-Nyhan syndrome [RCV000010742]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001851784] | pathogenic|other | X | 134475255 | 134475255 | Human | 2 | name , alternate_id |
| 8598472 | CV25084 | single nucleotide variant | NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) | HPRT YALE [RCV000010745]|Lesch-Nyhan syndrome [RCV000010744]|not provided [RCV000790697] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other | X | 134475257 | 134475257 | Human | 1 | name |
| 8598475 | CV25087 | single nucleotide variant | NM_000194.3(HPRT1):c.134G>A (p.Arg45Lys) | Lesch-Nyhan syndrome [RCV000010748] | pathogenic | X | 134473465 | 134473465 | Human | 1 | name |
| 8598478 | CV25098 | single nucleotide variant | NM_000194.2(HPRT1):c.151C>G (p.Arg51Gly) | HPRT TORONTO [RCV000010760]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010759] | pathogenic|other | X | 134475197 | 134475197 | Human | 1 | name , alternate_id |
| 8598479 | CV25099 | single nucleotide variant | NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) | HPRT FUJIMI [RCV000010762]|Lesch-Nyhan syndrome [RCV000010761]|Microcephaly [RCV001252944]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001224361]|not provided [RCV000153366] | pathogenic|uncertain significance|other | X | 134475197 | 134475197 | Human | 4 | name , alternate_id |
| 8598480 | CV25100 | single nucleotide variant | NM_000194.2(HPRT1):c.170T>C (p.Met57Thr) | HPRT MONTREAL [RCV000010764]|HPRT1-related disorder [RCV004545724]|Lesch-nyhan syndrome, neurologic variant [RCV000010763] | pathogenic|other|not provided | X | 134475216 | 134475216 | Human | 2 | name , trait , alternate_id |
| 8598485 | CV25114 | single nucleotide variant | NM_000194.2(HPRT1):c.172G>A (p.Gly58Arg) | HPRT TOOWONG [RCV000010780]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010779] | pathogenic|other | X | 134475218 | 134475218 | Human | 1 | name , alternate_id |
| 8598486 | CV25115 | single nucleotide variant | NM_000194.2(HPRT1):c.232C>G (p.Leu78Val) | HPRT SWAN [RCV000010782]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010781] | pathogenic|other | X | 134475278 | 134475278 | Human | 1 | name , alternate_id |
| 8598487 | CV25118 | single nucleotide variant | NM_000194.2(HPRT1):c.155A>G (p.Asp52Gly) | HPRT EDINBURGH [RCV000010788]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010787]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002512965] | pathogenic|uncertain significance|other | X | 134475201 | 134475201 | Human | 2 | name , alternate_id |
| 8598491 | CV25123 | single nucleotide variant | NM_000194.3(HPRT1):c.193C>T (p.Leu65Phe) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010796] | pathogenic|other | X | 134475239 | 134475239 | Human | 1 | name , alternate_id |
| 11634297 | CV264805 | single nucleotide variant | NM_000194.3(HPRT1):c.145C>T (p.Leu49Phe) | not provided [RCV000407541] | pathogenic | X | 134475191 | 134475191 | Human | | name |
| 11633317 | CV265138 | single nucleotide variant | NM_000194.3(HPRT1):c.202C>T (p.Leu68Phe) | not provided [RCV000330466] | pathogenic | X | 134475248 | 134475248 | Human | | name |
| 405072389 | CV3111496 | single nucleotide variant | NM_000194.3(HPRT1):c.161T>C (p.Met54Thr) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003809835] | uncertain significance | X | 134475207 | 134475207 | Human | 1 | name , alternate_id |
| 408365235 | CV3500631 | single nucleotide variant | NM_000194.3(HPRT1):c.197G>T (p.Cys66Phe) | Lesch-Nyhan syndrome [RCV004720659] | uncertain significance | X | 134475243 | 134475243 | Human | 1 | name |
| 597623030 | CV3552300 | deletion | NM_000194.3(HPRT1):c.598del (p.Arg200fs) | Lesch-Nyhan syndrome [RCV004821158] | likely pathogenic | X | 134498673 | 134498673 | Human | 1 | name |
| 597922434 | CV3867295 | single nucleotide variant | NM_000194.3(HPRT1):c.157G>A (p.Val53Met) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV005223721] | uncertain significance | X | 134475203 | 134475203 | Human | 1 | name , alternate_id |
| 597922441 | CV3867296 | single nucleotide variant | NM_000194.3(HPRT1):c.208G>A (p.Gly70Arg) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV005223722] | pathogenic | X | 134475254 | 134475254 | Human | 1 | name , alternate_id |
| 597837484 | CV3874584 | single nucleotide variant | NM_000194.3(HPRT1):c.273A>T (p.Arg91Ser) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV005210505] | uncertain significance | X | 134475319 | 134475319 | Human | 1 | name , alternate_id |
| 8602087 | CV38940 | single nucleotide variant | NM_000194.3(HPRT1):c.143G>A (p.Arg48His) | HPRT1-related disorder [RCV003398561]|Lesch-nyhan syndrome, neurologic variant [RCV000022877]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000690811]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001255647]|not pr ovided [RCV001092162] | pathogenic | X | 134475189 | 134475189 | Human | 3 | name , trait , alternate_id |
| 12912820 | CV422413 | single nucleotide variant | NM_000194.3(HPRT1):c.100A>G (p.Arg34Gly) | not provided [RCV000493053] | uncertain significance | X | 134473431 | 134473431 | Human | | name |
| 13532444 | CV512592 | single nucleotide variant | NM_000194.3(HPRT1):c.148G>C (p.Ala50Pro) | Nephrolithiasis/nephrocalcinosis [RCV004025274] | likely pathogenic | X | 134475194 | 134475194 | Human | 1 | name |
| 13613783 | CV534530 | duplication | NM_000194.3(HPRT1):c.609dup (p.His204fs) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000631415] | likely pathogenic | X | 134498683 | 134498684 | Human | 1 | name , alternate_id |
| 21073813 | CV792123 | single nucleotide variant | NM_000194.3(HPRT1):c.221T>G (p.Phe74Cys) | Lesch-Nyhan syndrome [RCV000990949] | pathogenic | X | 134475267 | 134475267 | Human | 1 | name |
| 40887754 | CV974306 | single nucleotide variant | NM_000194.3(HPRT1):c.178C>T (p.His60Tyr) | Inborn genetic diseases [RCV001267347] | uncertain significance | X | 134475224 | 134475224 | Human | 1 | name |
| 150338539 | CV1174393 | single nucleotide variant | NM_000194.3(HPRT1):c.539G>A (p.Gly180Glu) | Lesch-Nyhan syndrome [RCV001542504] | pathogenic | X | 134498614 | 134498614 | Human | 1 | name |
| 151862717 | CV1420310 | single nucleotide variant | NM_000194.3(HPRT1):c.599G>A (p.Arg200Lys) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001980333] | uncertain significance | X | 134498674 | 134498674 | Human | 1 | name , alternate_id |
| 151783880 | CV1481287 | single nucleotide variant | NM_000194.3(HPRT1):c.430C>T (p.Gln144Ter) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001951336] | pathogenic | X | 134493535 | 134493535 | Human | 1 | name , alternate_id |
| 152164690 | CV1611115 | single nucleotide variant | NM_000194.3(HPRT1):c.505C>G (p.Pro169Ala) | Nephrolithiasis/nephrocalcinosis [RCV004046324]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002141572] | benign|likely benign | X | 134498409 | 134498409 | Human | 2 | name , alternate_id |
| 155798663 | CV1862108 | single nucleotide variant | NM_000194.3(HPRT1):c.568G>T (p.Gly190Ter) | Lesch-Nyhan syndrome [RCV002471511] | pathogenic | X | 134498643 | 134498643 | Human | 1 | name |
| 156383252 | CV1878397 | single nucleotide variant | NM_000194.3(HPRT1):c.611A>T (p.His204Leu) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003050654] | pathogenic | X | 134500031 | 134500031 | Human | 1 | name , alternate_id |
| 156133158 | CV2118836 | single nucleotide variant | NM_000194.3(HPRT1):c.370A>G (p.Thr124Ala) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002953955] | uncertain significance | X | 134486516 | 134486516 | Human | 1 | name , alternate_id |
| 243063720 | CV2405199 | single nucleotide variant | NM_000194.3(HPRT1):c.580G>T (p.Asp194Tyr) | Lesch-Nyhan syndrome [RCV003142331] | likely pathogenic | X | 134498655 | 134498655 | Human | 1 | name |
| 8598459 | CV25068 | single nucleotide variant | NM_000194.2(HPRT1):c.396T>G (p.Ile132Met) | HPRT ANN ARBOR [RCV000010713]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010712] | pathogenic|other | X | 134490199 | 134490199 | Human | 1 | name , alternate_id |
| 8598461 | CV25070 | single nucleotide variant | NM_000194.2(HPRT1):c.602A>G (p.Asp201Gly) | HPRT ASHVILLE [RCV000010717]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010716] | pathogenic|other | X | 134498677 | 134498677 | Human | 1 | name , alternate_id |
| 8598465 | CV25076 | single nucleotide variant | NM_000194.2(HPRT1):c.580G>A (p.Asp194Asn) | Lesch-Nyhan syndrome [RCV000010728] | pathogenic|other | X | 134498655 | 134498655 | Human | 1 | name |
| 8598466 | CV25077 | single nucleotide variant | NM_000194.2(HPRT1):c.329C>T (p.Ser110Leu) | HPRT LONDON [RCV000010731]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010730]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003764546] | pathogenic|likely pathogenic|other | X | 134486475 | 134486475 | Human | 2 | name , alternate_id |
| 8598467 | CV25079 | single nucleotide variant | NM_000194.2(HPRT1):c.389T>A (p.Val130Asp) | HPRT MIDLAND [RCV000010735]|Lesch-Nyhan syndrome [RCV000010734] | pathogenic|other | X | 134490192 | 134490192 | Human | 1 | name |
| 8598468 | CV25080 | single nucleotide variant | NM_000194.2(HPRT1):c.481G>T (p.Ala161Ser) | HPRT MILWAUKEE [RCV000010737]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010736]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003764547] | pathogenic|likely pathogenic|other | X | 134493586 | 134493586 | Human | 2 | name , alternate_id |
| 8598469 | CV25081 | single nucleotide variant | NM_000194.2(HPRT1):c.312C>A (p.Ser104Arg) | HPRT MUNICH [RCV000010739]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010738] | pathogenic|other | X | 134475358 | 134475358 | Human | 1 | name , alternate_id |
| 8598470 | CV25082 | single nucleotide variant | NM_000194.2(HPRT1):c.595T>G (p.Phe199Val) | HPRT NEW BRITON [RCV000010741]|Lesch-Nyhan syndrome [RCV000010740] | pathogenic|other | X | 134498670 | 134498670 | Human | 1 | name |
| 8598473 | CV25085 | single nucleotide variant | NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter) | Lesch-Nyhan syndrome [RCV000010746]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000631414]|not provided [RCV004700213] | pathogenic | X | 134486471 | 134486471 | Human | 2 | name , alternate_id |
| 8598474 | CV25086 | single nucleotide variant | NM_000194.3(HPRT1):c.610C>G (p.His204Asp) | Lesch-Nyhan syndrome [RCV000010747]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001250108] | pathogenic|likely pathogenic | X | 134500030 | 134500030 | Human | 2 | name , alternate_id |
| 8598476 | CV25088 | single nucleotide variant | NM_000194.3(HPRT1):c.529G>T (p.Asp177Tyr) | Lesch-Nyhan syndrome [RCV000010749] | pathogenic | X | 134498433 | 134498433 | Human | 1 | name |
| 8561333 | CV25094 | indel | NM_000194.3(HPRT1):c.610-4_610-2delinsTTT | Lesch-Nyhan syndrome [RCV000010755] | pathogenic | X | 134500026 | 134500028 | Human | | name |
| 8598477 | CV25097 | single nucleotide variant | NM_000194.3(HPRT1):c.527C>T (p.Pro176Leu) | Lesch-Nyhan syndrome [RCV000010758] | pathogenic | X | 134498431 | 134498431 | Human | 1 | name |
| 8598481 | CV25101 | single nucleotide variant | NM_000194.3(HPRT1):c.428T>A (p.Met143Lys) | Lesch-Nyhan syndrome [RCV000010765] | pathogenic | X | 134493533 | 134493533 | Human | 1 | name |
| 8598482 | CV25102 | single nucleotide variant | NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter) | Lesch-Nyhan syndrome [RCV000010766]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003764548] | pathogenic|likely pathogenic | X | 134498412 | 134498412 | Human | 2 | name , alternate_id |
| 8598483 | CV25112 | single nucleotide variant | NM_000194.2(HPRT1):c.503C>T (p.Thr168Ile) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010776] | pathogenic | X | 134498407 | 134498407 | Human | 1 | name , alternate_id |
| 8598488 | CV25119 | single nucleotide variant | NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp) | HPRT TOKYO [RCV000010790]|Lesch-Nyhan syndrome [RCV000010789]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001857327] | pathogenic|uncertain significance|other | X | 134493524 | 134493524 | Human | 2 | name , alternate_id |
| 8598489 | CV25120 | single nucleotide variant | NM_000194.2(HPRT1):c.582C>G (p.Asp194Glu) | HPRT MOOSE JAW [RCV000010792]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010791] | pathogenic|other | X | 134498657 | 134498657 | Human | 1 | name , alternate_id |
| 8598490 | CV25121 | single nucleotide variant | NM_000194.2(HPRT1):c.459T>G (p.Tyr153Ter) | HPRT PARIS [RCV000010794]|Lesch-Nyhan syndrome [RCV000010793] | pathogenic|other | X | 134493564 | 134493564 | Human | 1 | name |
| 11639820 | CV266922 | single nucleotide variant | NM_000194.3(HPRT1):c.485G>T (p.Ser162Ile) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000766072]|not provided [RCV000327497] | uncertain significance | X | 134493590 | 134493590 | Human | 1 | name , alternate_id |
| 11580751 | CV268410 | single nucleotide variant | NM_000194.3(HPRT1):c.580G>C (p.Asp194His) | not provided [RCV000343059] | pathogenic | X | 134498655 | 134498655 | Human | | name |
| 405004572 | CV3082682 | single nucleotide variant | NM_000194.3(HPRT1):c.403G>T (p.Asp135Tyr) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003783781] | pathogenic | X | 134493508 | 134493508 | Human | 1 | name , alternate_id |
| 405004585 | CV3082683 | single nucleotide variant | NM_000194.3(HPRT1):c.569G>A (p.Gly190Glu) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003783782] | uncertain significance | X | 134498644 | 134498644 | Human | 1 | name , alternate_id |
| 405004595 | CV3082684 | single nucleotide variant | NM_000194.3(HPRT1):c.648C>G (p.Tyr216Ter) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003783783] | uncertain significance | X | 134500068 | 134500068 | Human | 1 | name , alternate_id |
| 405081587 | CV3107413 | single nucleotide variant | NM_000194.3(HPRT1):c.627T>G (p.Ser209Arg) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003800283] | uncertain significance | X | 134500047 | 134500047 | Human | 1 | name , alternate_id |
| 407426301 | CV3409835 | single nucleotide variant | NM_000194.3(HPRT1):c.337G>T (p.Asp113Tyr) | not provided [RCV004585767] | uncertain significance | X | 134486483 | 134486483 | Human | | name |
| 407475463 | CV3414366 | single nucleotide variant | NM_000194.3(HPRT1):c.416C>A (p.Thr139Asn) | Lesch-Nyhan syndrome [RCV004596702] | likely pathogenic | X | 134493521 | 134493521 | Human | 1 | name |
| 408375827 | CV3506631 | single nucleotide variant | NM_000194.3(HPRT1):c.617G>T (p.Cys206Phe) | HPRT1-related disorder [RCV004726411] | uncertain significance | X | 134500037 | 134500037 | Human | | name , trait , alternate_id |
| 408386915 | CV3518608 | single nucleotide variant | NM_000194.3(HPRT1):c.431A>G (p.Gln144Arg) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV005040779]|not provided [RCV004760926] | uncertain significance | X | 134493536 | 134493536 | Human | 1 | name , alternate_id |
| 596928854 | CV3541631 | single nucleotide variant | NM_000194.3(HPRT1):c.485G>A (p.Ser162Asn) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV004797504] | uncertain significance | X | 134493590 | 134493590 | Human | 1 | name , alternate_id |
| 596942562 | CV3544161 | single nucleotide variant | NM_000194.3(HPRT1):c.521A>G (p.Tyr174Cys) | not specified [RCV004800152] | uncertain significance | X | 134498425 | 134498425 | Human | | name |
| 596948320 | CV3549403 | single nucleotide variant | NM_000194.3(HPRT1):c.512G>A (p.Ser171Asn) | not provided [RCV004812223] | uncertain significance | X | 134498416 | 134498416 | Human | | name |
| 596946254 | CV3550519 | single nucleotide variant | NM_000194.3(HPRT1):c.440T>C (p.Leu147Pro) | not provided [RCV004819057] | likely pathogenic | X | 134493545 | 134493545 | Human | | name |
| 597716966 | CV3729538 | single nucleotide variant | NM_000194.3(HPRT1):c.412G>A (p.Asp138Asn) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV005049277] | uncertain significance | X | 134493517 | 134493517 | Human | 1 | name , alternate_id |
| 597716978 | CV3729539 | single nucleotide variant | NM_000194.3(HPRT1):c.587A>G (p.Asn196Ser) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV005049278] | uncertain significance | X | 134498662 | 134498662 | Human | 1 | name , alternate_id |
| 617148320 | CV4017751 | single nucleotide variant | NM_000194.3(HPRT1):c.418G>T (p.Gly140Cys) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV005417536] | uncertain significance | X | 134493523 | 134493523 | Human | 1 | name , alternate_id |
| 12913453 | CV422414 | single nucleotide variant | NM_000194.3(HPRT1):c.566T>C (p.Val189Ala) | not provided [RCV000493834] | likely pathogenic | X | 134498641 | 134498641 | Human | | name |
| 13213949 | CV430651 | single nucleotide variant | NM_000194.3(HPRT1):c.325C>A (p.Gln109Lys) | History of neurodevelopmental disorder [RCV000718469]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002481618]|not specified [RCV000500647] | uncertain significance | X | 134486471 | 134486471 | Human | 2 | name , alternate_id |
| 13474192 | CV446501 | single nucleotide variant | NM_000194.3(HPRT1):c.364C>T (p.Leu122Phe) | not provided [RCV000519577] | uncertain significance | X | 134486510 | 134486510 | Human | | name |
| 13797706 | CV551342 | single nucleotide variant | NM_000194.3(HPRT1):c.536T>C (p.Val179Ala) | Lesch-Nyhan syndrome [RCV000678321]|not provided [RCV001756144] | uncertain significance | X | 134498611 | 134498611 | Human | 1 | name |
| 13816386 | CV574292 | single nucleotide variant | NM_000194.3(HPRT1):c.368C>G (p.Ser123Ter) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000706332] | pathogenic | X | 134486514 | 134486514 | Human | 1 | name , alternate_id |
| 13829350 | CV580774 | single nucleotide variant | NM_000194.3(HPRT1):c.453G>T (p.Arg151Ser) | Nephrolithiasis/nephrocalcinosis [RCV004026873] | uncertain significance | X | 134493558 | 134493558 | Human | 1 | name |
| 14395753 | CV611934 | single nucleotide variant | NM_000194.3(HPRT1):c.454C>T (p.Gln152Ter) | not provided [RCV000760358] | pathogenic | X | 134493559 | 134493559 | Human | | name |
| 14713139 | CV649709 | single nucleotide variant | NM_000194.3(HPRT1):c.610C>T (p.His204Tyr) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000810491] | likely pathogenic | X | 134500030 | 134500030 | Human | 1 | name , alternate_id |
| 14720789 | CV649711 | single nucleotide variant | NM_000194.3(HPRT1):c.653C>G (p.Ala218Gly) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000813167] | uncertain significance | X | 134500073 | 134500073 | Human | 1 | name , alternate_id |
| 26906153 | CV849664 | single nucleotide variant | NM_000194.3(HPRT1):c.481G>A (p.Ala161Thr) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001051587] | likely pathogenic | X | 134493586 | 134493586 | Human | 1 | name , alternate_id |
| 8639530 | CV98513 | single nucleotide variant | NM_000194.3(HPRT1):c.496A>G (p.Lys166Glu) | not provided [RCV000078346] | uncertain significance | X | 134498400 | 134498400 | Human | | name |
| 8639531 | CV98514 | single nucleotide variant | NM_000194.3(HPRT1):c.655T>A (p.Ter219Lys) | not provided [RCV000078347] | uncertain significance | X | 134500075 | 134500075 | Human | | name |
| 126761228 | CV999619 | single nucleotide variant | NM_000194.3(HPRT1):c.355G>A (p.Gly119Arg) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001309537] | uncertain significance | X | 134486501 | 134486501 | Human | 1 | name , alternate_id |
| 156383239 | CV1878395 | deletion | NM_000194.3(HPRT1):c.289_290del (p.Val97fs) | Lesch-Nyhan syndrome [RCV003318326]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003050653] | pathogenic | X | 134475334 | 134475335 | Human | 2 | name , alternate_id |
| 8561331 | CV25092 | deletion | NM_000194.3(HPRT1):c.160_199del (p.Met54fs) | Lesch-Nyhan syndrome [RCV000010753] | pathogenic | X | 134475202 | 134475241 | Human | 1 | name |
| 11633416 | CV265021 | deletion | NM_000194.3(HPRT1):c.266_269del (p.Ser89fs) | not provided [RCV000337962] | pathogenic | X | 134475311 | 134475314 | Human | | name |
| 405016128 | CV3100616 | microsatellite | NM_000194.3(HPRT1):c.200_201dup (p.Leu68fs) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003805364] | pathogenic | X | 134475241 | 134475242 | Human | | name , alternate_id |
| 13516080 | CV488395 | deletion | NM_000194.3(HPRT1):c.643_*7del (p.Lys215fs) | not provided [RCV000595073] | pathogenic | X | 134500062 | 134500083 | Human | | name |
| 26890071 | CV849663 | deletion | NM_000194.3(HPRT1):c.124_127del (p.Ile42fs) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001067702] | pathogenic | X | 134473453 | 134473456 | Human | 1 | name , alternate_id |
| 151785382 | CV1454911 | deletion | NM_000194.3(HPRT1):c.556_557del (p.Lys186fs) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001972480] | pathogenic | X | 134498631 | 134498632 | Human | 1 | name , alternate_id |
| 156372139 | CV1878396 | deletion | NM_000194.3(HPRT1):c.333_334del (p.Asp113fs) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003066379] | pathogenic | X | 134486479 | 134486480 | Human | 1 | name , alternate_id |
| 597922648 | CV3867301 | microsatellite | NM_000194.3(HPRT1):c.619_620del (p.Val207fs) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV005223727] | likely pathogenic | X | 134500036 | 134500037 | Human | | name , alternate_id |
| 8598463 | CV25074 | deletion | NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs) | HPRT EVANSVILLE [RCV000010725]|Lesch-Nyhan syndrome [RCV000010724] | pathogenic|other | X | 134500063 | 134500083 | Human | 1 | name |
| 8561330 | CV25091 | deletion | NM_000194.3(HPRT1):c.392del (p.Val130_Leu131insTer) | Lesch-Nyhan syndrome [RCV000010752] | pathogenic | X | 134490194 | 134490194 | Human | 1 | name |
| 14707891 | CV649710 | deletion | NM_000194.3(HPRT1):c.648del (p.Lys215_Tyr216insTer) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000808202] | uncertain significance | X | 134500068 | 134500068 | Human | 1 | name , alternate_id |
| 38477964 | CV951616 | deletion | NM_000194.3(HPRT1):c.564del (p.Val188_Val189insTer) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001233727] | pathogenic|likely pathogenic | X | 134498638 | 134498638 | Human | 1 | name , alternate_id |
| 156234673 | CV2081683 | duplication | NM_000194.3(HPRT1):c.615_620dup (p.Val207_Ile208insCysVal) | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV002876370] | uncertain significance | X | 134500031 | 134500032 | Human | 1 | name , alternate_id |
| 127272764 | CV1058179 | deletion | NC_000023.10:g.(?_132670132)_(133634127_?)del | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001390562] | pathogenic | | | | Human | 1 | alternate_id |
| 151888612 | CV1481569 | deletion | NC_000023.10:g.(?_133632400)_(133634107_?)del | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001963254] | pathogenic | | | | Human | 1 | alternate_id |
| 156450027 | CV1938879 | duplication | NC_000023.10:g.(?_132670152)_(133634107_?)dup | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003122161] | uncertain significance | | | | Human | 1 | alternate_id |
| 156450028 | CV1938880 | deletion | NC_000023.10:g.(?_133627518)_(133628822_?)del | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003122162] | pathogenic | | | | Human | 1 | alternate_id |
| 156450029 | CV1938881 | deletion | NC_000023.10:g.(?_133627564)_(133629109_?)del | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003122163] | pathogenic | | | | Human | 1 | alternate_id |
| 8561336 | CV25103 | deletion | HPRT, 13-BP DEL, 5-PRIME UTR | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000010767] | pathogenic | | | | Human | | alternate_id |
| 8561345 | CV25116 | single nucleotide variant | HPRT CHERMSIDE | HPRT CHERMSIDE [RCV001255650]|Lesch-Nyhan syndrome [RCV000010783]|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003764549] | pathogenic|other | X | 134493591 | 134493591 | Human | 2 | alternate_id |
| 405877855 | CV3406154 | deletion | NC_000023.10:g.(?_133620475)_(133620580_?)del | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV004582922] | pathogenic | | | | Human | 1 | alternate_id |
| 13613785 | CV534373 | deletion | NC_000023.11:g.(?_134460292)_(134500097_?)del | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000631416] | pathogenic | X | 134460292 | 134500097 | Human | 1 | alternate_id |
| 14714477 | CV653299 | deletion | NC_000023.11:g.(?_134473339)_(134500097_?)del | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000796790] | pathogenic | X | 134473339 | 134500097 | Human | 1 | alternate_id |
| 14701921 | CV653634 | deletion | NC_000023.11:g.(?_134460292)_(134460385_?)del | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV000820575] | pathogenic | X | 134460292 | 134460385 | Human | 1 | alternate_id |
| 26889688 | CV821558 | deletion | NC_000023.11:g.(?_134500010)_(134500097_?)del | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001031357] | pathogenic | | | | Human | 1 | alternate_id |
