| 150447416 | CV1270308 | duplication | NM_003638.3(ITGA8):c.-64dup | not provided [RCV001691444] | benign | 10 | 15719834 | 15719835 | Human | | name |
| 405085576 | CV3047721 | single nucleotide variant | NM_003638.3(ITGA8):c.569-7G>A | not provided [RCV003717447] | likely benign | 10 | 15678790 | 15678790 | Human | | name |
| 597965706 | CV3848405 | single nucleotide variant | NM_003638.3(ITGA8):c.444+8T>C | not provided [RCV005194285] | likely benign | 10 | 15687930 | 15687930 | Human | | name |
| 150332122 | CV1163536 | single nucleotide variant | NM_003638.3(ITGA8):c.631-73A>G | not provided [RCV001528087] | benign | 10 | 15677710 | 15677710 | Human | | name |
| 150461486 | CV1234785 | single nucleotide variant | NM_003638.3(ITGA8):c.892-39T>C | not provided [RCV001649367] | benign | 10 | 15659094 | 15659094 | Human | | name |
| 150464520 | CV1252704 | single nucleotide variant | NM_003638.3(ITGA8):c.343+95G>C | not provided [RCV001670028] | benign | 10 | 15718671 | 15718671 | Human | | name |
| 150448767 | CV1253598 | single nucleotide variant | NM_003638.3(ITGA8):c.209+35A>G | not provided [RCV001667526] | benign | 10 | 15719528 | 15719528 | Human | | name |
| 150450620 | CV1254134 | single nucleotide variant | NM_003638.3(ITGA8):c.803-21G>C | Renal hypodysplasia/aplasia 1 [RCV001730945]|not provided [RCV001667772] | benign | 10 | 15671668 | 15671668 | Human | 2 | name |
| 150507660 | CV1257193 | single nucleotide variant | NM_003638.3(ITGA8):c.847+95T>C | not provided [RCV001678492] | benign | 10 | 15671508 | 15671508 | Human | | name |
| 150461356 | CV1264299 | single nucleotide variant | NM_003638.3(ITGA8):c.444+14G>A | Renal hypodysplasia/aplasia 1 [RCV001730959]|not provided [RCV001682216] | benign | 10 | 15687924 | 15687924 | Human | 2 | name |
| 150488474 | CV1265254 | single nucleotide variant | NM_003638.3(ITGA8):c.848-71G>T | not provided [RCV001687290] | benign | 10 | 15660993 | 15660993 | Human | | name |
| 150454429 | CV1266004 | single nucleotide variant | NM_003638.3(ITGA8):c.847+61A>G | not provided [RCV001692581] | benign | 10 | 15671542 | 15671542 | Human | | name |
| 8591276 | CV132022 | single nucleotide variant | NM_003638.3(ITGA8):c.2982+2T>C | Renal hypodysplasia/aplasia 1 [RCV000114393]|not provided [RCV001854534] | pathogenic|likely pathogenic | 10 | 15531048 | 15531048 | Human | 2 | name |
| 151820851 | CV1510627 | single nucleotide variant | NM_003638.3(ITGA8):c.1399+6G>C | not provided [RCV001934130] | uncertain significance | 10 | 15644024 | 15644024 | Human | | name |
| 152031204 | CV1632533 | single nucleotide variant | NM_003638.3(ITGA8):c.802+11T>C | not provided [RCV002124500] | benign | 10 | 15672613 | 15672613 | Human | | name |
| 156089485 | CV1953535 | single nucleotide variant | NM_003638.3(ITGA8):c.848-12T>C | not provided [RCV002570173] | benign | 10 | 15660934 | 15660934 | Human | | name |
| 156210993 | CV1955760 | single nucleotide variant | NM_003638.3(ITGA8):c.948+17A>G | not provided [RCV002575154] | likely benign | 10 | 15658982 | 15658982 | Human | | name |
| 156164882 | CV1959812 | single nucleotide variant | NM_003638.3(ITGA8):c.630+19G>A | not provided [RCV002573637] | likely benign | 10 | 15678703 | 15678703 | Human | | name |
| 156310999 | CV2000082 | single nucleotide variant | NM_003638.3(ITGA8):c.209+16C>A | not provided [RCV002671634] | likely benign | 10 | 15719547 | 15719547 | Human | | name |
| 156294774 | CV2111593 | single nucleotide variant | NM_003638.3(ITGA8):c.1971-3T>C | not provided [RCV002922300] | likely benign | 10 | 15604358 | 15604358 | Human | | name |
| 156136168 | CV2113332 | single nucleotide variant | NM_003638.3(ITGA8):c.1400-9C>A | not provided [RCV002928387] | likely benign | 10 | 15616568 | 15616568 | Human | | name |
| 401919808 | CV2794956 | single nucleotide variant | NM_003638.3(ITGA8):c.1764+1G>A | Renal hypodysplasia/aplasia 1 [RCV003388702] | likely pathogenic | 10 | 15607676 | 15607676 | Human | 2 | name |
| 401938130 | CV2813016 | single nucleotide variant | NM_003638.3(ITGA8):c.1002-7C>G | not provided [RCV003417238] | likely benign | 10 | 15647058 | 15647058 | Human | | name |
| 402510394 | CV3042443 | single nucleotide variant | NM_003638.3(ITGA8):c.2118+9T>C | not provided [RCV003715583] | likely benign | 10 | 15604199 | 15604199 | Human | | name |
| 405254086 | CV3045272 | single nucleotide variant | NM_003638.3(ITGA8):c.1446-5C>T | ITGA8-related disorder [RCV003981076]|not provided [RCV003722843] | likely benign | 10 | 15613772 | 15613772 | Human | 1 | name , trait , alternate_id |
| 405192090 | CV3145990 | single nucleotide variant | NM_003638.3(ITGA8):c.209+18G>A | not provided [RCV003843537] | likely benign | 10 | 15719545 | 15719545 | Human | | name |
| 404999954 | CV3183898 | single nucleotide variant | NM_003638.3(ITGA8):c.209+16C>T | not provided [RCV003882481] | likely benign | 10 | 15719547 | 15719547 | Human | | name |
| 405263058 | CV3189400 | single nucleotide variant | NM_003638.3(ITGA8):c.2638-6T>G | ITGA8-related disorder [RCV003896634] | likely benign | 10 | 15558208 | 15558208 | Human | | name , trait , alternate_id |
| 405701835 | CV3225962 | single nucleotide variant | NM_003638.3(ITGA8):c.1970+1G>A | Renal hypodysplasia/aplasia 1 [RCV003989402] | likely pathogenic | 10 | 15605723 | 15605723 | Human | 2 | name |
| 597837978 | CV3758127 | single nucleotide variant | NM_003638.3(ITGA8):c.1609+8T>A | not provided [RCV005085961] | likely benign | 10 | 15608227 | 15608227 | Human | | name |
| 597962458 | CV3809177 | single nucleotide variant | NM_003638.3(ITGA8):c.802+14C>T | not provided [RCV005164079] | likely benign | 10 | 15672610 | 15672610 | Human | | name |
| 15103516 | CV759949 | single nucleotide variant | NM_003638.3(ITGA8):c.3105+7T>C | not provided [RCV000915177] | likely benign | 10 | 15519283 | 15519283 | Human | | name |
| 15151558 | CV779477 | single nucleotide variant | NM_003638.3(ITGA8):c.2478+5C>T | not provided [RCV000968165] | benign | 10 | 15575484 | 15575484 | Human | | name |
| 150331987 | CV1163537 | single nucleotide variant | NM_003638.3(ITGA8):c.631-111A>G | not provided [RCV001528033] | benign | 10 | 15677748 | 15677748 | Human | | name |
| 150335815 | CV1165008 | single nucleotide variant | NM_003638.3(ITGA8):c.2638-70T>C | not provided [RCV001530564] | benign | 10 | 15558272 | 15558272 | Human | | name |
| 150510788 | CV1210574 | single nucleotide variant | NM_003638.3(ITGA8):c.2766+81A>C | not provided [RCV001597753] | benign | 10 | 15557993 | 15557993 | Human | | name |
| 150449632 | CV1215134 | single nucleotide variant | NM_003638.3(ITGA8):c.2880+46T>C | not provided [RCV001611724] | benign | 10 | 15548409 | 15548409 | Human | | name |
| 150443868 | CV1216551 | single nucleotide variant | NM_003638.3(ITGA8):c.1400-38C>T | not provided [RCV001610850] | benign | 10 | 15616597 | 15616597 | Human | | name |
| 150468733 | CV1218956 | single nucleotide variant | NM_003638.3(ITGA8):c.848-307A>G | not provided [RCV001614708] | benign | 10 | 15661229 | 15661229 | Human | | name |
| 150458065 | CV1219702 | single nucleotide variant | NM_003638.3(ITGA8):c.2880+47G>A | not provided [RCV001612918] | benign | 10 | 15548408 | 15548408 | Human | | name |
| 150451067 | CV1220812 | single nucleotide variant | NM_003638.3(ITGA8):c.568+332T>C | not provided [RCV001611906] | benign | 10 | 15683672 | 15683672 | Human | | name |
| 150499513 | CV1224603 | single nucleotide variant | NM_003638.3(ITGA8):c.948+171T>C | not provided [RCV001620434] | benign | 10 | 15658828 | 15658828 | Human | | name |
| 150495561 | CV1225105 | deletion | NM_003638.3(ITGA8):c.803-233del | not provided [RCV001619583] | benign | 10 | 15671880 | 15671880 | Human | | name |
| 150506449 | CV1226349 | single nucleotide variant | NM_003638.3(ITGA8):c.2881-55A>G | not provided [RCV001635717] | benign | 10 | 15531206 | 15531206 | Human | | name |
| 150516861 | CV1227300 | single nucleotide variant | NM_003638.3(ITGA8):c.210-311T>G | not provided [RCV001639400] | benign | 10 | 15719210 | 15719210 | Human | | name |
| 150433245 | CV1230460 | single nucleotide variant | NM_003638.3(ITGA8):c.891+215T>G | not provided [RCV001643405] | benign | 10 | 15660664 | 15660664 | Human | | name |
| 150459097 | CV1236043 | single nucleotide variant | NM_003638.3(ITGA8):c.802+192G>T | not provided [RCV001649014] | benign | 10 | 15672432 | 15672432 | Human | | name |
| 150456009 | CV1236827 | deletion | NM_003638.3(ITGA8):c.892-158del | not provided [RCV001648563] | benign | 10 | 15659213 | 15659213 | Human | | name |
| 150489991 | CV1239038 | duplication | NM_003638.3(ITGA8):c.344-285dup | not provided [RCV001654606] | benign | 10 | 15688302 | 15688303 | Human | | name |
| 150478942 | CV1240586 | single nucleotide variant | NM_003638.3(ITGA8):c.2880+82C>A | not provided [RCV001652461] | benign | 10 | 15548373 | 15548373 | Human | | name |
| 150470944 | CV1248113 | single nucleotide variant | NM_003638.3(ITGA8):c.1609+48G>C | not provided [RCV001671149] | benign | 10 | 15608187 | 15608187 | Human | | name |
| 150469380 | CV1249085 | single nucleotide variant | NM_003638.3(ITGA8):c.891+293T>C | not provided [RCV001670847] | benign | 10 | 15660586 | 15660586 | Human | | name |
| 150471052 | CV1258728 | single nucleotide variant | NM_003638.3(ITGA8):c.948+195T>C | not provided [RCV001684274] | benign | 10 | 15658804 | 15658804 | Human | | name |
| 150480581 | CV1258752 | single nucleotide variant | NM_003638.3(ITGA8):c.569-180C>T | not provided [RCV001685882] | benign | 10 | 15678963 | 15678963 | Human | | name |
| 150445627 | CV1261230 | single nucleotide variant | NM_003638.3(ITGA8):c.803-311T>A | not provided [RCV001679904] | benign | 10 | 15671958 | 15671958 | Human | | name |
| 150448047 | CV1261911 | single nucleotide variant | NM_003638.3(ITGA8):c.568+280G>A | not provided [RCV001680296] | benign | 10 | 15683724 | 15683724 | Human | | name |
| 150488044 | CV1262828 | single nucleotide variant | NM_003638.3(ITGA8):c.892-224A>G | not provided [RCV001687226] | benign | 10 | 15659279 | 15659279 | Human | | name |
| 150458735 | CV1269683 | single nucleotide variant | NM_003638.3(ITGA8):c.848-180C>T | not provided [RCV001693223] | benign | 10 | 15661102 | 15661102 | Human | | name |
| 150471967 | CV1270181 | single nucleotide variant | NM_003638.3(ITGA8):c.1902+41G>A | not provided [RCV001695469] | benign | 10 | 15606244 | 15606244 | Human | | name |
| 150462182 | CV1276049 | single nucleotide variant | NM_003638.3(ITGA8):c.1399+46T>A | not provided [RCV001709988] | benign | 10 | 15643984 | 15643984 | Human | | name |
| 150489490 | CV1279046 | deletion | NM_003638.3(ITGA8):c.344-265del | not provided [RCV001716303] | benign | 10 | 15688303 | 15688303 | Human | | name |
| 150512264 | CV1284902 | single nucleotide variant | NM_003638.3(ITGA8):c.949-273A>C | not provided [RCV001721771] | benign | 10 | 15655679 | 15655679 | Human | | name |
| 152052321 | CV1523573 | single nucleotide variant | NM_003638.3(ITGA8):c.1400-11G>A | Renal hypodysplasia/aplasia 1 [RCV002494296]|not provided [RCV002127392] | benign|likely benign | 10 | 15616570 | 15616570 | Human | 2 | name |
| 156415578 | CV1955309 | single nucleotide variant | NM_003638.3(ITGA8):c.1400-11G>C | not provided [RCV002589244] | likely benign | 10 | 15616570 | 15616570 | Human | | name |
| 156407183 | CV1960492 | single nucleotide variant | NM_003638.3(ITGA8):c.1207+18G>A | not provided [RCV002586152] | likely benign | 10 | 15646828 | 15646828 | Human | | name |
| 156217720 | CV1963426 | single nucleotide variant | NM_003638.3(ITGA8):c.1446-17G>T | not provided [RCV002575401] | benign | 10 | 15613784 | 15613784 | Human | | name |
| 156243521 | CV2040074 | single nucleotide variant | NM_003638.3(ITGA8):c.1610-18T>C | not provided [RCV002805761] | benign | 10 | 15607849 | 15607849 | Human | | name |
| 155954485 | CV2043930 | single nucleotide variant | NM_003638.3(ITGA8):c.1903-15G>A | not provided [RCV002775948] | benign | 10 | 15605806 | 15605806 | Human | | name |
| 405226910 | CV3059330 | single nucleotide variant | NM_003638.3(ITGA8):c.2880+10A>C | not provided [RCV003734102] | likely benign | 10 | 15548445 | 15548445 | Human | | name |
| 405120062 | CV3116457 | single nucleotide variant | NM_003638.3(ITGA8):c.1903-13T>G | not provided [RCV003814758] | uncertain significance | 10 | 15605804 | 15605804 | Human | | name |
| 405088172 | CV3122213 | single nucleotide variant | NM_003638.3(ITGA8):c.1553+12C>T | not provided [RCV003810968] | likely benign | 10 | 15613648 | 15613648 | Human | | name |
| 405195269 | CV3128667 | single nucleotide variant | NM_003638.3(ITGA8):c.2291+20A>T | not provided [RCV003821405] | likely benign | 10 | 15592205 | 15592205 | Human | | name |
| 405061850 | CV3129604 | single nucleotide variant | NM_003638.3(ITGA8):c.1903-16C>T | not provided [RCV003832873] | likely benign | 10 | 15605807 | 15605807 | Human | | name |
| 405110870 | CV3137227 | single nucleotide variant | NM_003638.3(ITGA8):c.1554-12T>C | not provided [RCV003836190] | uncertain significance | 10 | 15608302 | 15608302 | Human | | name |
| 597849439 | CV3746583 | single nucleotide variant | NM_003638.3(ITGA8):c.1553+13G>A | not provided [RCV005060402] | likely benign | 10 | 15613647 | 15613647 | Human | | name |
| 15176729 | CV775635 | single nucleotide variant | NM_003638.3(ITGA8):c.1001+10T>C | not provided [RCV000928984] | likely benign | 10 | 15655344 | 15655344 | Human | | name |
| 150478866 | CV1218861 | single nucleotide variant | NM_003638.3(ITGA8):c.2119-247T>C | not provided [RCV001616489] | benign | 10 | 15597546 | 15597546 | Human | | name |
| 150480840 | CV1222048 | single nucleotide variant | NM_003638.3(ITGA8):c.1208-139G>A | not provided [RCV001616845] | benign | 10 | 15644360 | 15644360 | Human | | name |
| 150505081 | CV1222804 | single nucleotide variant | NM_003638.3(ITGA8):c.1971-186G>C | not provided [RCV001621738] | benign | 10 | 15604541 | 15604541 | Human | | name |
| 150502916 | CV1223337 | single nucleotide variant | NM_003638.3(ITGA8):c.2881-220G>C | not provided [RCV001621272] | benign | 10 | 15531371 | 15531371 | Human | | name |
| 150501099 | CV1223629 | deletion | NM_003638.3(ITGA8):c.1971-104del | not provided [RCV001620750] | benign | 10 | 15604459 | 15604459 | Human | | name |
| 150503428 | CV1223748 | single nucleotide variant | NM_003638.3(ITGA8):c.1765-227G>A | not provided [RCV001621397] | benign | 10 | 15606649 | 15606649 | Human | | name |
| 150498635 | CV1224170 | single nucleotide variant | NM_003638.3(ITGA8):c.1001+221G>A | not provided [RCV001620283] | benign | 10 | 15655133 | 15655133 | Human | | name |
| 150516490 | CV1227090 | single nucleotide variant | NM_003638.3(ITGA8):c.1553+234C>T | not provided [RCV001639188] | benign | 10 | 15613426 | 15613426 | Human | | name |
| 150509759 | CV1228781 | single nucleotide variant | NM_003638.3(ITGA8):c.2880+102T>C | not provided [RCV001636566] | benign | 10 | 15548353 | 15548353 | Human | | name |
| 150473300 | CV1234255 | single nucleotide variant | NM_003638.3(ITGA8):c.1902+180C>T | not provided [RCV001651574] | benign | 10 | 15606105 | 15606105 | Human | | name |
| 150459521 | CV1236107 | deletion | NM_003638.3(ITGA8):c.1400-184del | not provided [RCV001649078] | benign | 10 | 15616743 | 15616743 | Human | | name |
| 150506881 | CV1242322 | single nucleotide variant | NM_003638.3(ITGA8):c.2119-113A>G | not provided [RCV001658677] | benign | 10 | 15597412 | 15597412 | Human | | name |
| 150511199 | CV1242638 | single nucleotide variant | NM_003638.3(ITGA8):c.2478+305G>A | not provided [RCV001660990] | benign | 10 | 15575184 | 15575184 | Human | | name |
| 150431152 | CV1243601 | single nucleotide variant | NM_003638.3(ITGA8):c.2880+310C>T | not provided [RCV001663221] | benign | 10 | 15548145 | 15548145 | Human | | name |
| 150458459 | CV1248938 | single nucleotide variant | NM_003638.3(ITGA8):c.1610-169G>T | not provided [RCV001669114] | benign | 10 | 15608000 | 15608000 | Human | | name |
| 150485473 | CV1250234 | single nucleotide variant | NM_003638.3(ITGA8):c.1553+261T>C | not provided [RCV001673847] | benign | 10 | 15613399 | 15613399 | Human | | name |
| 150447479 | CV1253411 | single nucleotide variant | NM_003638.3(ITGA8):c.1554-296A>C | not provided [RCV001667339] | benign | 10 | 15608586 | 15608586 | Human | | name |
| 150492397 | CV1253926 | single nucleotide variant | NM_003638.3(ITGA8):c.2881-216C>T | not provided [RCV001675022] | benign | 10 | 15531367 | 15531367 | Human | | name |
| 150507989 | CV1255974 | single nucleotide variant | NM_003638.3(ITGA8):c.2881-248A>G | not provided [RCV001678575] | benign | 10 | 15531399 | 15531399 | Human | | name |
| 150493509 | CV1257569 | single nucleotide variant | NM_003638.3(ITGA8):c.1400-101A>G | not provided [RCV001675242] | benign | 10 | 15616660 | 15616660 | Human | | name |
| 150503058 | CV1257702 | single nucleotide variant | NM_003638.3(ITGA8):c.2478+337C>T | not provided [RCV001677390] | benign | 10 | 15575152 | 15575152 | Human | | name |
| 150470726 | CV1258647 | single nucleotide variant | NM_003638.3(ITGA8):c.2119-293T>C | not provided [RCV001684192] | benign | 10 | 15597592 | 15597592 | Human | | name |
| 150468772 | CV1259547 | single nucleotide variant | NM_003638.3(ITGA8):c.1400-217G>C | not provided [RCV001683847] | benign | 10 | 15616776 | 15616776 | Human | | name |
| 150448547 | CV1260703 | single nucleotide variant | NM_003638.3(ITGA8):c.2478+240C>G | not provided [RCV001680371] | benign | 10 | 15575249 | 15575249 | Human | | name |
| 150462925 | CV1263730 | single nucleotide variant | NM_003638.3(ITGA8):c.1001+157T>C | not provided [RCV001682431] | benign | 10 | 15655197 | 15655197 | Human | | name |
| 150441155 | CV1267029 | single nucleotide variant | NM_003638.3(ITGA8):c.2881-187C>G | not provided [RCV001690465] | benign | 10 | 15531338 | 15531338 | Human | | name |
| 150491660 | CV1267812 | duplication | NM_003638.3(ITGA8):c.1971-245dup | not provided [RCV001687837] | benign | 10 | 15604578 | 15604579 | Human | | name |
| 150489530 | CV1268915 | single nucleotide variant | NM_003638.3(ITGA8):c.1971-297C>T | not provided [RCV001687479] | benign | 10 | 15604652 | 15604652 | Human | | name |
| 150458900 | CV1269711 | single nucleotide variant | NM_003638.3(ITGA8):c.2881-264A>G | not provided [RCV001693251] | benign | 10 | 15531415 | 15531415 | Human | | name |
| 150498260 | CV1271480 | single nucleotide variant | NM_003638.3(ITGA8):c.1446-275T>C | not provided [RCV001689170] | benign | 10 | 15614042 | 15614042 | Human | | name |
| 150436775 | CV1273576 | deletion | NM_003638.3(ITGA8):c.1971-224del | not provided [RCV001689563] | benign | 10 | 15604579 | 15604579 | Human | | name |
| 150452586 | CV1276745 | deletion | NM_003638.3(ITGA8):c.1970+245del | not provided [RCV001708535] | benign | 10 | 15605479 | 15605479 | Human | | name |
| 150481765 | CV1279827 | single nucleotide variant | NM_003638.3(ITGA8):c.1445+216A>G | not provided [RCV001714906] | benign | 10 | 15616298 | 15616298 | Human | | name |
| 8651804 | CV128379 | single nucleotide variant | NM_003638.2(ITGA8):c.3105+120C>A | Lung cancer [RCV000108866] | uncertain significance | 10 | 15519170 | 15519170 | Human | | name |
| 150464139 | CV1273256 | microsatellite | NM_003638.3(ITGA8):c.1554-134GT[10] | not provided [RCV001694013] | benign | 10 | 15608403 | 15608404 | Human | | name |
| 402496151 | CV2942801 | single nucleotide variant | NM_003638.3(ITGA8):c.6G>T (p.Ser2=) | not provided [RCV003661149] | likely benign | 10 | 15719766 | 15719766 | Human | | name |
| 597932584 | CV3780779 | deletion | NM_003638.3(ITGA8):c.2118_2118+3del | not provided [RCV005116891] | likely pathogenic | 10 | 15604205 | 15604208 | Human | | name |
| 150516987 | CV1227426 | single nucleotide variant | NM_003638.3(ITGA8):c.24T>A (p.Gly8=) | not provided [RCV001639527] | benign | 10 | 15719748 | 15719748 | Human | | name |
| 156328600 | CV2094622 | single nucleotide variant | NM_003638.3(ITGA8):c.24T>C (p.Gly8=) | not provided [RCV002899783] | likely benign | 10 | 15719748 | 15719748 | Human | | name |
| 405278607 | CV3216616 | single nucleotide variant | NM_003638.3(ITGA8):c.21C>G (p.Arg7=) | ITGA8-related disorder [RCV003954518] | likely benign | 10 | 15719751 | 15719751 | Human | | name , trait , alternate_id |
| 151881041 | CV1437281 | deletion | NM_003638.3(ITGA8):c.2982+3_2982+6del | not provided [RCV001999578] | uncertain significance | 10 | 15531044 | 15531047 | Human | | name |
| 151709694 | CV1501931 | single nucleotide variant | NM_003638.3(ITGA8):c.5C>G (p.Ser2Trp) | not provided [RCV001907730] | uncertain significance | 10 | 15719767 | 15719767 | Human | | name |
| 152055862 | CV1590953 | single nucleotide variant | NM_003638.3(ITGA8):c.51C>T (p.Ile17=) | not provided [RCV002109530] | likely benign | 10 | 15719721 | 15719721 | Human | | name |
| 597959398 | CV3797555 | single nucleotide variant | NM_003638.3(ITGA8):c.78G>T (p.Ala26=) | not provided [RCV005138242] | likely benign | 10 | 15719694 | 15719694 | Human | | name |
| 405277176 | CV3195358 | single nucleotide variant | NM_003638.3(ITGA8):c.171C>T (p.Phe57=) | ITGA8-related disorder [RCV003904149] | likely benign | 10 | 15719601 | 15719601 | Human | | name , trait , alternate_id |
| 150339355 | CV1167493 | duplication | NM_003638.3(ITGA8):c.344-285_344-284dup | not provided [RCV001534173] | benign | 10 | 15688302 | 15688303 | Human | | name |
| 156011891 | CV1985976 | single nucleotide variant | NM_003638.3(ITGA8):c.462T>C (p.Tyr154=) | not provided [RCV002636266] | likely benign | 10 | 15684110 | 15684110 | Human | | name |
| 156164243 | CV2246764 | single nucleotide variant | NM_003638.3(ITGA8):c.53C>G (p.Ala18Gly) | Inborn genetic diseases [RCV002787681] | uncertain significance | 10 | 15719719 | 15719719 | Human | 1 | name |
| 156081285 | CV2292794 | single nucleotide variant | NM_003638.3(ITGA8):c.41C>T (p.Ala14Val) | Inborn genetic diseases [RCV002869272] | uncertain significance | 10 | 15719731 | 15719731 | Human | 1 | name |
| 401891986 | CV2775863 | single nucleotide variant | NM_003638.3(ITGA8):c.53C>A (p.Ala18Glu) | Inborn genetic diseases [RCV003355189] | uncertain significance | 10 | 15719719 | 15719719 | Human | 1 | name |
| 401938131 | CV2813017 | single nucleotide variant | NM_003638.3(ITGA8):c.345C>T (p.Asn115=) | not provided [RCV003417239] | likely benign | 10 | 15688037 | 15688037 | Human | | name |
| 405236868 | CV2884782 | single nucleotide variant | NM_003638.3(ITGA8):c.972C>T (p.Thr324=) | not provided [RCV003556571] | benign | 10 | 15655383 | 15655383 | Human | | name |
| 405230597 | CV2899642 | single nucleotide variant | NM_003638.3(ITGA8):c.312G>A (p.Ala104=) | ITGA8-related disorder [RCV003946735]|not provided [RCV003555445] | benign|likely benign | 10 | 15718797 | 15718797 | Human | 1 | name , trait , alternate_id |
| 402467777 | CV2910641 | single nucleotide variant | NM_003638.3(ITGA8):c.834G>T (p.Gly278=) | not provided [RCV003569750] | likely benign | 10 | 15671616 | 15671616 | Human | | name |
| 405095858 | CV3045698 | single nucleotide variant | NM_003638.3(ITGA8):c.981A>G (p.Val327=) | not provided [RCV003718050] | likely benign | 10 | 15655374 | 15655374 | Human | | name |
| 405274492 | CV3208755 | single nucleotide variant | NM_003638.3(ITGA8):c.828T>C (p.Phe276=) | ITGA8-related disorder [RCV003951569] | likely benign | 10 | 15671622 | 15671622 | Human | | name , trait , alternate_id |
| 405292867 | CV3210467 | single nucleotide variant | NM_003638.3(ITGA8):c.420G>C (p.Val140=) | ITGA8-related disorder [RCV003931428] | likely benign | 10 | 15687962 | 15687962 | Human | | name , trait , alternate_id |
| 407458712 | CV3451618 | single nucleotide variant | NM_003638.3(ITGA8):c.62G>T (p.Cys21Phe) | Inborn genetic diseases [RCV004633384] | uncertain significance | 10 | 15719710 | 15719710 | Human | 1 | name |
| 596928317 | CV3541456 | deletion | NM_003638.3(ITGA8):c.158del (p.Lys53fs) | Renal hypodysplasia/aplasia 1 [RCV004797328] | likely pathogenic | 10 | 15719614 | 15719614 | Human | 2 | name |
| 597961606 | CV3753284 | single nucleotide variant | NM_003638.3(ITGA8):c.324G>A (p.Gln108=) | not provided [RCV005081784] | likely benign | 10 | 15718785 | 15718785 | Human | | name |
| 597973661 | CV3791419 | single nucleotide variant | NM_003638.3(ITGA8):c.309T>G (p.Ser103=) | not provided [RCV005143435] | likely benign | 10 | 15718800 | 15718800 | Human | | name |
| 597951573 | CV3798365 | deletion | NM_003638.3(ITGA8):c.2119-19_2119-18del | not provided [RCV005136145] | likely benign | 10 | 15597317 | 15597318 | Human | | name |
| 15201439 | CV701269 | single nucleotide variant | NM_003638.3(ITGA8):c.921G>A (p.Thr307=) | not provided [RCV000957623] | benign | 10 | 15659026 | 15659026 | Human | | name |
| 15175809 | CV712286 | single nucleotide variant | NM_003638.3(ITGA8):c.840T>C (p.Ser280=) | Inborn genetic diseases [RCV004986718]|Renal hypodysplasia/aplasia 1 [RCV001334157]|not provided [RCV000973037] | likely benign|uncertain significance | 10 | 15671610 | 15671610 | Human | 3 | name |
| 15110501 | CV712287 | single nucleotide variant | NM_003638.3(ITGA8):c.723A>C (p.Ser241=) | not provided [RCV000960915] | benign | 10 | 15672703 | 15672703 | Human | | name |
| 15130878 | CV712288 | single nucleotide variant | NM_003638.3(ITGA8):c.483G>A (p.Pro161=) | not provided [RCV000964509] | benign|likely benign | 10 | 15684089 | 15684089 | Human | | name |
| 15156536 | CV723872 | single nucleotide variant | NM_003638.3(ITGA8):c.888A>C (p.Gly296=) | not provided [RCV000880649] | likely benign | 10 | 15660882 | 15660882 | Human | | name |
| 15172879 | CV723873 | single nucleotide variant | NM_003638.3(ITGA8):c.663T>C (p.Ser221=) | not provided [RCV000883930] | benign | 10 | 15677605 | 15677605 | Human | | name |
| 15160222 | CV723874 | single nucleotide variant | NM_003638.3(ITGA8):c.330G>A (p.Pro110=) | not provided [RCV000881341] | benign | 10 | 15718779 | 15718779 | Human | | name |
| 15177934 | CV767681 | single nucleotide variant | NM_003638.3(ITGA8):c.765G>T (p.Thr255=) | not provided [RCV000929276] | likely benign | 10 | 15672661 | 15672661 | Human | | name |
| 15175017 | CV767682 | single nucleotide variant | NM_003638.3(ITGA8):c.537C>T (p.Ser179=) | not provided [RCV000928575] | likely benign | 10 | 15684035 | 15684035 | Human | | name |
| 126747207 | CV1017275 | single nucleotide variant | NM_003638.3(ITGA8):c.158A>G (p.Lys53Arg) | Renal hypodysplasia/aplasia 1 [RCV001331092] | uncertain significance | 10 | 15719614 | 15719614 | Human | 2 | name |
| 152117485 | CV1633596 | single nucleotide variant | NM_003638.3(ITGA8):c.2616T>C (p.Asn872=) | not provided [RCV002117391] | likely benign | 10 | 15572232 | 15572232 | Human | | name |
| 156439106 | CV1943975 | single nucleotide variant | NM_003638.3(ITGA8):c.2148G>A (p.Lys716=) | not provided [RCV003109060] | uncertain significance | 10 | 15597270 | 15597270 | Human | | name |
| 156243755 | CV1973322 | single nucleotide variant | NM_003638.3(ITGA8):c.2055A>G (p.Glu685=) | not provided [RCV002597234] | likely benign | 10 | 15604271 | 15604271 | Human | | name |
| 156379660 | CV2060676 | single nucleotide variant | NM_003638.3(ITGA8):c.2016C>T (p.Leu672=) | not provided [RCV002814989] | likely benign | 10 | 15604310 | 15604310 | Human | | name |
| 155962397 | CV2080531 | single nucleotide variant | NM_003638.3(ITGA8):c.2046A>C (p.Gly682=) | not provided [RCV002862920] | likely benign | 10 | 15604280 | 15604280 | Human | | name |
| 156136743 | CV2113372 | single nucleotide variant | NM_003638.3(ITGA8):c.1197T>C (p.Asp399=) | not provided [RCV002928406] | likely benign | 10 | 15646856 | 15646856 | Human | | name |
| 156326745 | CV2116063 | single nucleotide variant | NM_003638.3(ITGA8):c.2817C>T (p.Leu939=) | not provided [RCV002938126] | likely benign | 10 | 15548518 | 15548518 | Human | | name |
| 156024619 | CV2128830 | single nucleotide variant | NM_003638.3(ITGA8):c.1455G>A (p.Pro485=) | ITGA8-related disorder [RCV003936453]|not provided [RCV002948940] | benign|likely benign | 10 | 15613758 | 15613758 | Human | 1 | name , trait , alternate_id |
| 156147205 | CV2130967 | single nucleotide variant | NM_003638.3(ITGA8):c.2523G>A (p.Glu841=) | not provided [RCV002982525] | likely benign | 10 | 15572325 | 15572325 | Human | | name |
| 156073812 | CV2165339 | single nucleotide variant | NM_003638.3(ITGA8):c.2613T>C (p.Pro871=) | not provided [RCV003037650] | likely benign | 10 | 15572235 | 15572235 | Human | | name |
| 156313240 | CV2256986 | single nucleotide variant | NM_003638.3(ITGA8):c.149G>A (p.Ser50Asn) | Inborn genetic diseases [RCV002809231] | uncertain significance | 10 | 15719623 | 15719623 | Human | 1 | name |
| 155905475 | CV2286014 | single nucleotide variant | NM_003638.3(ITGA8):c.160G>T (p.Gly54Cys) | Inborn genetic diseases [RCV002837149] | uncertain significance | 10 | 15719612 | 15719612 | Human | 1 | name |
| 156182207 | CV2338185 | single nucleotide variant | NM_003638.3(ITGA8):c.281A>G (p.Tyr94Cys) | Inborn genetic diseases [RCV002956470] | uncertain significance | 10 | 15718828 | 15718828 | Human | 1 | name |
| 405213134 | CV2878805 | single nucleotide variant | NM_003638.3(ITGA8):c.1746T>C (p.Asp582=) | not provided [RCV003552851] | likely benign | 10 | 15607695 | 15607695 | Human | | name |
| 405237770 | CV2881102 | single nucleotide variant | NM_003638.3(ITGA8):c.2841G>T (p.Leu947=) | not provided [RCV003556643] | likely benign | 10 | 15548494 | 15548494 | Human | | name |
| 405147980 | CV2881783 | single nucleotide variant | NM_003638.3(ITGA8):c.1176C>T (p.His392=) | not provided [RCV003561512] | benign | 10 | 15646877 | 15646877 | Human | | name |
| 405030383 | CV2925991 | single nucleotide variant | NM_003638.3(ITGA8):c.1146G>C (p.Thr382=) | not provided [RCV003578246] | likely benign | 10 | 15646907 | 15646907 | Human | | name |
| 405165711 | CV3018811 | single nucleotide variant | NM_003638.3(ITGA8):c.2796C>T (p.Ile932=) | not provided [RCV003704293] | likely benign | 10 | 15548539 | 15548539 | Human | | name |
| 405183271 | CV3031956 | single nucleotide variant | NM_003638.3(ITGA8):c.2748G>A (p.Gln916=) | not provided [RCV003705755] | likely benign | 10 | 15558092 | 15558092 | Human | | name |
| 405231620 | CV3070576 | single nucleotide variant | NM_003638.3(ITGA8):c.1944T>A (p.Val648=) | not provided [RCV003734938] | benign | 10 | 15605750 | 15605750 | Human | | name |
| 405201752 | CV3129052 | single nucleotide variant | NM_003638.3(ITGA8):c.2709C>A (p.Val903=) | not provided [RCV003822095] | likely benign | 10 | 15558131 | 15558131 | Human | | name |
| 402466942 | CV3177811 | single nucleotide variant | NM_003638.3(ITGA8):c.1548T>C (p.Ala516=) | ITGA8-related disorder [RCV003966734]|not provided [RCV003873249] | likely benign | 10 | 15613665 | 15613665 | Human | 1 | name , trait , alternate_id |
| 405258664 | CV3194098 | single nucleotide variant | NM_003638.3(ITGA8):c.2430G>A (p.Glu810=) | ITGA8-related disorder [RCV003893680] | likely benign | 10 | 15575537 | 15575537 | Human | | name , trait , alternate_id |
| 405259267 | CV3194625 | single nucleotide variant | NM_003638.3(ITGA8):c.1611C>G (p.Val537=) | ITGA8-related disorder [RCV003894019] | likely benign | 10 | 15607830 | 15607830 | Human | | name , trait , alternate_id |
| 405269545 | CV3201659 | single nucleotide variant | NM_003638.3(ITGA8):c.2673C>T (p.Ser891=) | ITGA8-related disorder [RCV003899567]|not provided [RCV005101587] | likely benign | 10 | 15558167 | 15558167 | Human | 1 | name , trait , alternate_id |
| 405289303 | CV3205095 | single nucleotide variant | NM_003638.3(ITGA8):c.2274C>T (p.Phe758=) | ITGA8-related disorder [RCV003961705] | likely benign | 10 | 15592242 | 15592242 | Human | | name , trait , alternate_id |
| 405258050 | CV3208121 | single nucleotide variant | NM_003638.3(ITGA8):c.1728A>G (p.Lys576=) | ITGA8-related disorder [RCV003941570] | likely benign | 10 | 15607713 | 15607713 | Human | | name , trait , alternate_id |
| 405871978 | CV3398169 | single nucleotide variant | NM_003638.3(ITGA8):c.2745A>G (p.Arg915=) | not provided [RCV004575170] | likely benign | 10 | 15558095 | 15558095 | Human | | name |
| 408383629 | CV3506751 | single nucleotide variant | NM_003638.3(ITGA8):c.168C>A (p.Tyr56Ter) | ITGA8-related disorder [RCV004730698] | uncertain significance | 10 | 15719604 | 15719604 | Human | | name , trait , alternate_id |
| 596930056 | CV3531329 | duplication | NM_003638.3(ITGA8):c.360dup (p.Val121fs) | not provided [RCV004779903] | pathogenic | 10 | 15688021 | 15688022 | Human | | name |
| 597701203 | CV3686850 | single nucleotide variant | NM_003638.3(ITGA8):c.178G>A (p.Ala60Thr) | Inborn genetic diseases [RCV004988045] | uncertain significance | 10 | 15719594 | 15719594 | Human | 1 | name |
| 597701225 | CV3686854 | single nucleotide variant | NM_003638.3(ITGA8):c.217G>T (p.Val73Phe) | Inborn genetic diseases [RCV004988049] | uncertain significance | 10 | 15718892 | 15718892 | Human | 1 | name |
| 597899567 | CV3740953 | single nucleotide variant | NM_003638.3(ITGA8):c.1908C>T (p.His636=) | not provided [RCV005072116] | likely benign | 10 | 15605786 | 15605786 | Human | | name |
| 597853252 | CV3743486 | single nucleotide variant | NM_003638.3(ITGA8):c.1512T>C (p.Asn504=) | not provided [RCV005060836] | likely benign | 10 | 15613701 | 15613701 | Human | | name |
| 597831455 | CV3750952 | single nucleotide variant | NM_003638.3(ITGA8):c.1947T>C (p.Pro649=) | not provided [RCV005084696] | likely benign | 10 | 15605747 | 15605747 | Human | | name |
| 597943318 | CV3757956 | single nucleotide variant | NM_003638.3(ITGA8):c.2676C>T (p.Ala892=) | not provided [RCV005077955] | likely benign | 10 | 15558164 | 15558164 | Human | | name |
| 597858019 | CV3769575 | single nucleotide variant | NM_003638.3(ITGA8):c.1569A>G (p.Val523=) | not provided [RCV005105617] | likely benign | 10 | 15608275 | 15608275 | Human | | name |
| 597891832 | CV3785050 | single nucleotide variant | NM_003638.3(ITGA8):c.1146G>A (p.Thr382=) | not provided [RCV005125829] | likely benign | 10 | 15646907 | 15646907 | Human | | name |
| 597961114 | CV3794824 | single nucleotide variant | NM_003638.3(ITGA8):c.1566A>G (p.Arg522=) | not provided [RCV005138729] | likely benign | 10 | 15608278 | 15608278 | Human | | name |
| 597966099 | CV3823687 | single nucleotide variant | NM_003638.3(ITGA8):c.1692T>C (p.Ala564=) | not provided [RCV005165107] | likely benign | 10 | 15607749 | 15607749 | Human | | name |
| 597888014 | CV3859427 | single nucleotide variant | NM_003638.3(ITGA8):c.2943T>C (p.Tyr981=) | not provided [RCV005200083] | likely benign | 10 | 15531089 | 15531089 | Human | | name |
| 598225613 | CV3894275 | single nucleotide variant | NM_003638.3(ITGA8):c.1353C>A (p.Gly451=) | not provided [RCV005257518] | likely benign | 10 | 15644076 | 15644076 | Human | | name |
| 598195690 | CV3972675 | single nucleotide variant | NM_003638.3(ITGA8):c.119A>C (p.Asn40Thr) | Inborn genetic diseases [RCV005355042] | uncertain significance | 10 | 15719653 | 15719653 | Human | 1 | name |
| 15101504 | CV701268 | single nucleotide variant | NM_003638.3(ITGA8):c.2100A>G (p.Gly700=) | not provided [RCV000959103] | benign | 10 | 15604226 | 15604226 | Human | | name |
| 15118536 | CV712285 | single nucleotide variant | NM_003638.3(ITGA8):c.1936C>T (p.Leu646=) | not provided [RCV000962398] | benign|likely benign | 10 | 15605758 | 15605758 | Human | | name |
| 15158358 | CV723867 | single nucleotide variant | NM_003638.3(ITGA8):c.2352A>G (p.Val784=) | not provided [RCV000880992] | benign | 10 | 15586604 | 15586604 | Human | | name |
| 15188058 | CV723870 | single nucleotide variant | NM_003638.3(ITGA8):c.1065A>G (p.Arg355=) | not provided [RCV000887425] | likely benign | 10 | 15646988 | 15646988 | Human | | name |
| 15157097 | CV737426 | single nucleotide variant | NM_003638.3(ITGA8):c.2664T>G (p.Pro888=) | not provided [RCV000902458] | likely benign | 10 | 15558176 | 15558176 | Human | | name |
| 15131731 | CV767679 | single nucleotide variant | NM_003638.3(ITGA8):c.2661C>T (p.Thr887=) | not provided [RCV000942277] | likely benign | 10 | 15558179 | 15558179 | Human | | name |
| 15171795 | CV767680 | single nucleotide variant | NM_003638.3(ITGA8):c.1269T>C (p.Asn423=) | not provided [RCV000927976] | likely benign | 10 | 15644160 | 15644160 | Human | | name |
| 21072899 | CV796383 | single nucleotide variant | NM_003638.3(ITGA8):c.196C>T (p.Pro66Ser) | Renal hypodysplasia/aplasia 1 [RCV005359730]|not provided [RCV000994357] | uncertain significance | 10 | 15719576 | 15719576 | Human | 2 | name |
| 126731374 | CV1000692 | duplication | NM_003638.3(ITGA8):c.1123dup (p.Gln375fs) | not provided [RCV001310565] | likely pathogenic | 10 | 15646929 | 15646930 | Human | | name |
| 126731380 | CV1000693 | single nucleotide variant | NM_003638.3(ITGA8):c.722C>A (p.Ser241Ter) | not provided [RCV001310566] | likely pathogenic | 10 | 15672704 | 15672704 | Human | | name |
| 126727125 | CV1017274 | single nucleotide variant | NM_003638.3(ITGA8):c.468G>A (p.Trp156Ter) | Renal hypodysplasia/aplasia 1 [RCV001332305] | pathogenic | 10 | 15684104 | 15684104 | Human | 1 | name |
| 150502792 | CV1212321 | deletion | NM_003638.3(ITGA8):c.1971-226_1971-224del | not provided [RCV001595195] | benign | 10 | 15604579 | 15604581 | Human | | name |
| 150494110 | CV1226095 | deletion | NM_003638.3(ITGA8):c.1971-225_1971-224del | not provided [RCV001619313] | benign | 10 | 15604579 | 15604580 | Human | | name |
| 8591278 | CV132025 | single nucleotide variant | NM_003638.3(ITGA8):c.764C>T (p.Thr255Met) | not provided [RCV000114396] | uncertain significance | 10 | 15672662 | 15672662 | Human | | name |
| 155267008 | CV1696451 | single nucleotide variant | NM_003638.3(ITGA8):c.361G>A (p.Val121Ile) | not provided [RCV002281309] | uncertain significance | 10 | 15688021 | 15688021 | Human | | name |
| 155265974 | CV1704850 | duplication | NM_003638.3(ITGA8):c.2804dup (p.Val936fs) | Renal hypodysplasia/aplasia 1 [RCV002285095] | pathogenic | 10 | 15548530 | 15548531 | Human | 2 | name |
| 156322272 | CV1873271 | single nucleotide variant | NM_003638.3(ITGA8):c.604G>A (p.Ala202Thr) | not provided [RCV003063154] | uncertain significance | 10 | 15678748 | 15678748 | Human | | name |
| 156449814 | CV1942084 | single nucleotide variant | NM_003638.3(ITGA8):c.647T>C (p.Val216Ala) | not provided [RCV003121941] | uncertain significance | 10 | 15677621 | 15677621 | Human | | name |
| 156126838 | CV1969461 | single nucleotide variant | NM_003638.3(ITGA8):c.892G>A (p.Val298Ile) | Inborn genetic diseases [RCV002593342]|not provided [RCV002587773] | uncertain significance | 10 | 15659055 | 15659055 | Human | 1 | name |
| 156420031 | CV1979384 | single nucleotide variant | NM_003638.3(ITGA8):c.482C>T (p.Pro161Leu) | Inborn genetic diseases [RCV002613282]|not provided [RCV002613281] | uncertain significance | 10 | 15684090 | 15684090 | Human | 1 | name |
| 156098403 | CV2004783 | single nucleotide variant | NM_003638.3(ITGA8):c.737T>G (p.Leu246Arg) | not provided [RCV002639487] | uncertain significance | 10 | 15672689 | 15672689 | Human | | name |
| 156041596 | CV2044093 | single nucleotide variant | NM_003638.3(ITGA8):c.308C>T (p.Ser103Phe) | not provided [RCV002781513] | uncertain significance | 10 | 15718801 | 15718801 | Human | | name |
| 156210837 | CV2103292 | single nucleotide variant | NM_003638.3(ITGA8):c.482C>A (p.Pro161Gln) | not provided [RCV002918155] | likely benign | 10 | 15684090 | 15684090 | Human | | name |
| 156244573 | CV2105544 | single nucleotide variant | NM_003638.3(ITGA8):c.3189A>G (p.Ala1063=) | not provided [RCV002933325] | likely benign | 10 | 15517161 | 15517161 | Human | | name |
| 156100388 | CV2117146 | single nucleotide variant | NM_003638.3(ITGA8):c.3150C>A (p.Thr1050=) | not provided [RCV002952719] | benign | 10 | 15517200 | 15517200 | Human | | name |
| 156298283 | CV2119353 | single nucleotide variant | NM_003638.3(ITGA8):c.911C>T (p.Thr304Met) | Inborn genetic diseases [RCV002962020]|not provided [RCV002962019] | uncertain significance | 10 | 15659036 | 15659036 | Human | 1 | name |
| 156095590 | CV2139593 | single nucleotide variant | NM_003638.3(ITGA8):c.749C>G (p.Ala250Gly) | not provided [RCV002979778] | uncertain significance | 10 | 15672677 | 15672677 | Human | | name |
| 156237221 | CV2206828 | single nucleotide variant | NM_003638.3(ITGA8):c.371C>T (p.Thr124Ile) | Inborn genetic diseases [RCV002701610] | uncertain significance | 10 | 15688011 | 15688011 | Human | 1 | name |
| 156135709 | CV2213465 | single nucleotide variant | NM_003638.3(ITGA8):c.530A>C (p.Asn177Thr) | Inborn genetic diseases [RCV002696735] | uncertain significance | 10 | 15684042 | 15684042 | Human | 1 | name |
| 155934786 | CV2225404 | single nucleotide variant | NM_003638.3(ITGA8):c.635G>A (p.Gly212Glu) | Inborn genetic diseases [RCV002729292] | uncertain significance | 10 | 15677633 | 15677633 | Human | 1 | name |
| 156272442 | CV2247412 | single nucleotide variant | NM_003638.3(ITGA8):c.311C>T (p.Ala104Val) | Inborn genetic diseases [RCV002792561] | uncertain significance | 10 | 15718798 | 15718798 | Human | 1 | name |
| 156028617 | CV2278546 | single nucleotide variant | NM_003638.3(ITGA8):c.418G>A (p.Val140Met) | Inborn genetic diseases [RCV002845212] | uncertain significance | 10 | 15687964 | 15687964 | Human | 1 | name |
| 156396541 | CV2322438 | single nucleotide variant | NM_003638.3(ITGA8):c.481C>T (p.Pro161Ser) | Inborn genetic diseases [RCV002944984] | uncertain significance | 10 | 15684091 | 15684091 | Human | 1 | name |
| 156182306 | CV2338193 | single nucleotide variant | NM_003638.3(ITGA8):c.851T>C (p.Leu284Ser) | Inborn genetic diseases [RCV002956476] | uncertain significance | 10 | 15660919 | 15660919 | Human | 1 | name |
| 329395132 | CV2473034 | single nucleotide variant | NM_003638.3(ITGA8):c.707T>A (p.Ile236Asn) | not provided [RCV003219018] | uncertain significance | 10 | 15672719 | 15672719 | Human | | name |
| 401886970 | CV2777045 | single nucleotide variant | NM_003638.3(ITGA8):c.742A>C (p.Lys248Gln) | Inborn genetic diseases [RCV003366987] | uncertain significance | 10 | 15672684 | 15672684 | Human | 1 | name |
| 405158251 | CV3024784 | single nucleotide variant | NM_003638.3(ITGA8):c.3085T>C (p.Leu1029=) | not provided [RCV003703781] | likely benign | 10 | 15519310 | 15519310 | Human | | name |
| 405082038 | CV3046802 | single nucleotide variant | NM_003638.3(ITGA8):c.405G>C (p.Trp135Cys) | not provided [RCV003717209] | likely benign | 10 | 15687977 | 15687977 | Human | | name |
| 405805656 | CV3267949 | single nucleotide variant | NM_003638.3(ITGA8):c.656C>T (p.Pro219Leu) | Inborn genetic diseases [RCV004405654] | uncertain significance | 10 | 15677612 | 15677612 | Human | 1 | name |
| 407458699 | CV3451613 | single nucleotide variant | NM_003638.3(ITGA8):c.979G>A (p.Val327Ile) | Inborn genetic diseases [RCV004633379] | uncertain significance | 10 | 15655376 | 15655376 | Human | 1 | name |
| 408366609 | CV3512829 | single nucleotide variant | NM_003638.3(ITGA8):c.739A>G (p.Arg247Gly) | ITGA8-related disorder [RCV004756866]|Inborn genetic diseases [RCV004987203] | uncertain significance | 10 | 15672687 | 15672687 | Human | 2 | name , trait , alternate_id |
| 597701132 | CV3686837 | single nucleotide variant | NM_003638.3(ITGA8):c.670T>C (p.Trp224Arg) | Inborn genetic diseases [RCV004988032] | uncertain significance | 10 | 15677598 | 15677598 | Human | 1 | name |
| 597701172 | CV3686844 | single nucleotide variant | NM_003638.3(ITGA8):c.880A>C (p.Asn294His) | Inborn genetic diseases [RCV004988039] | uncertain significance | 10 | 15660890 | 15660890 | Human | 1 | name |
| 597701182 | CV3686846 | single nucleotide variant | NM_003638.3(ITGA8):c.605C>G (p.Ala202Gly) | Inborn genetic diseases [RCV004988041] | uncertain significance | 10 | 15678747 | 15678747 | Human | 1 | name |
| 597701199 | CV3686849 | single nucleotide variant | NM_003638.3(ITGA8):c.770T>G (p.Val257Gly) | Inborn genetic diseases [RCV004988044] | uncertain significance | 10 | 15672656 | 15672656 | Human | 1 | name |
| 598171031 | CV3972668 | single nucleotide variant | NM_003638.3(ITGA8):c.752G>A (p.Gly251Glu) | Inborn genetic diseases [RCV005370489] | uncertain significance | 10 | 15672674 | 15672674 | Human | 1 | name |
| 598171035 | CV3972671 | single nucleotide variant | NM_003638.3(ITGA8):c.938C>T (p.Thr313Met) | Inborn genetic diseases [RCV005370490] | uncertain significance | 10 | 15659009 | 15659009 | Human | 1 | name |
| 598195694 | CV3972676 | single nucleotide variant | NM_003638.3(ITGA8):c.635G>C (p.Gly212Ala) | Inborn genetic diseases [RCV005355043] | uncertain significance | 10 | 15677633 | 15677633 | Human | 1 | name |
| 598195696 | CV3972677 | single nucleotide variant | NM_003638.3(ITGA8):c.961T>C (p.Phe321Leu) | Inborn genetic diseases [RCV005355044] | uncertain significance | 10 | 15655394 | 15655394 | Human | 1 | name |
| 616938816 | CV4015858 | single nucleotide variant | NM_003638.3(ITGA8):c.467G>A (p.Trp156Ter) | Renal hypodysplasia/aplasia 1 [RCV005414410] | pathogenic | 10 | 15684105 | 15684105 | Human | 2 | name |
| 13475742 | CV444575 | duplication | NM_003638.3(ITGA8):c.2174dup (p.Cys726fs) | not provided [RCV000519968] | pathogenic | 10 | 15597243 | 15597244 | Human | | name |
| 13528632 | CV513591 | single nucleotide variant | NM_003638.3(ITGA8):c.537C>A (p.Ser179Arg) | Renal hypodysplasia/aplasia 1 [RCV000626065] | pathogenic|likely benign | 10 | 15684035 | 15684035 | Human | 2 | name |
| 13831776 | CV582273 | single nucleotide variant | NM_003638.3(ITGA8):c.404G>A (p.Trp135Ter) | not provided [RCV000722458] | uncertain significance | 10 | 15687978 | 15687978 | Human | | name |
| 15198614 | CV701270 | single nucleotide variant | NM_003638.3(ITGA8):c.646G>C (p.Val216Leu) | not provided [RCV000956810] | benign | 10 | 15677622 | 15677622 | Human | 3 | name |
| 15198614 | CV701270 | single nucleotide variant | NM_003638.3(ITGA8):c.646G>C (p.Val216Leu) | not provided [RCV000956810] | benign | 10 | 15677622 | 15677623 | Human | 3 | name |
| 15149929 | CV723871 | single nucleotide variant | NM_003638.3(ITGA8):c.901A>T (p.Ile301Phe) | not provided [RCV000879269] | benign | 10 | 15659046 | 15659046 | Human | | name |
| 15200767 | CV767678 | single nucleotide variant | NM_003638.3(ITGA8):c.3078C>T (p.Leu1026=) | not provided [RCV000935472] | likely benign | 10 | 15519317 | 15519317 | Human | | name |
| 126731370 | CV1000691 | single nucleotide variant | NM_003638.3(ITGA8):c.1592G>A (p.Ser531Asn) | not provided [RCV001310564] | uncertain significance | 10 | 15608252 | 15608252 | Human | | name |
| 126732900 | CV1020707 | single nucleotide variant | NM_003638.3(ITGA8):c.1156T>C (p.Phe386Leu) | Inborn genetic diseases [RCV004988551]|Renal hypodysplasia/aplasia 1 [RCV001334156] | uncertain significance | 10 | 15646897 | 15646897 | Human | 3 | name |
| 150337630 | CV1172078 | single nucleotide variant | NM_003638.3(ITGA8):c.1742A>C (p.Gln581Pro) | not provided [RCV001541772] | benign | 10 | 15607699 | 15607699 | Human | | name |
| 150517375 | CV1226825 | single nucleotide variant | NM_003638.3(ITGA8):c.1730C>T (p.Ser577Phe) | not provided [RCV001639919] | benign | 10 | 15607711 | 15607711 | Human | | name |
| 150482290 | CV1279950 | single nucleotide variant | NM_003638.3(ITGA8):c.2981T>C (p.Val994Ala) | Renal hypodysplasia/aplasia 1 [RCV001730990]|not provided [RCV001714999] | benign | 10 | 15531051 | 15531051 | Human | 2 | name |
| 150542601 | CV1314865 | single nucleotide variant | NM_003638.3(ITGA8):c.2626C>T (p.Gln876Ter) | Renal hypodysplasia/aplasia 1 [RCV001782316] | likely pathogenic | 10 | 15572222 | 15572222 | Human | 2 | name |
| 8555361 | CV132024 | single nucleotide variant | NM_003638.3(ITGA8):c.1219G>A (p.Gly407Arg) | ITGA8-related disorder [RCV004755774]|Renal hypodysplasia/aplasia 1 [RCV000114395] | pathogenic|likely pathogenic | 10 | 15644210 | 15644210 | Human | 3 | name , trait , alternate_id |
| 151757276 | CV1340373 | single nucleotide variant | NM_003638.3(ITGA8):c.1534T>C (p.Ser512Pro) | not provided [RCV001913581] | uncertain significance | 10 | 15613679 | 15613679 | Human | | name |
| 151887722 | CV1409068 | single nucleotide variant | NM_003638.3(ITGA8):c.1654G>A (p.Ala552Thr) | not provided [RCV001942447] | uncertain significance | 10 | 15607787 | 15607787 | Human | | name |
| 151869585 | CV1412138 | single nucleotide variant | NM_003638.3(ITGA8):c.2367A>G (p.Ile789Met) | not provided [RCV001884970] | uncertain significance | 10 | 15586589 | 15586589 | Human | | name |
| 151845126 | CV1501565 | single nucleotide variant | NM_003638.3(ITGA8):c.1580T>C (p.Val527Ala) | Inborn genetic diseases [RCV004982830]|not provided [RCV002015806] | uncertain significance | 10 | 15608264 | 15608264 | Human | 1 | name |
| 156401224 | CV1889084 | single nucleotide variant | NM_003638.3(ITGA8):c.2542G>T (p.Ala848Ser) | Inborn genetic diseases [RCV003294462]|not provided [RCV003069154] | uncertain significance | 10 | 15572306 | 15572306 | Human | 1 | name |
| 156088637 | CV1899140 | single nucleotide variant | NM_003638.3(ITGA8):c.2546G>A (p.Arg849Gln) | not provided [RCV003080125] | uncertain significance | 10 | 15572302 | 15572302 | Human | | name |
| 156357239 | CV1901263 | single nucleotide variant | NM_003638.3(ITGA8):c.2107C>T (p.Arg703Cys) | not provided [RCV002602253] | uncertain significance | 10 | 15604219 | 15604219 | Human | | name |
| 156371727 | CV1901445 | single nucleotide variant | NM_003638.3(ITGA8):c.1911T>G (p.Ile637Met) | Inborn genetic diseases [RCV004068784]|not provided [RCV002582467] | uncertain significance | 10 | 15605783 | 15605783 | Human | 1 | name |
| 156377218 | CV1913884 | single nucleotide variant | NM_003638.3(ITGA8):c.2833G>A (p.Ala945Thr) | not provided [RCV002603682] | uncertain significance | 10 | 15548502 | 15548502 | Human | | name |
| 156437161 | CV1936988 | single nucleotide variant | NM_003638.3(ITGA8):c.1763G>A (p.Arg588Gln) | Inborn genetic diseases [RCV004244525]|not provided [RCV003106692] | uncertain significance | 10 | 15607678 | 15607678 | Human | 1 | name |
| 155929529 | CV1946869 | single nucleotide variant | NM_003638.3(ITGA8):c.1175A>G (p.His392Arg) | Inborn genetic diseases [RCV002970507]|not provided [RCV003108207] | uncertain significance | 10 | 15646878 | 15646878 | Human | 1 | name |
| 156143301 | CV1957384 | single nucleotide variant | NM_003638.3(ITGA8):c.1567G>C (p.Val523Leu) | Inborn genetic diseases [RCV002577315]|not provided [RCV002572648] | uncertain significance | 10 | 15608277 | 15608277 | Human | 1 | name |
| 156375037 | CV1960048 | single nucleotide variant | NM_003638.3(ITGA8):c.1505T>C (p.Leu502Pro) | not provided [RCV002582730] | uncertain significance | 10 | 15613708 | 15613708 | Human | | name |
| 156415851 | CV1987605 | single nucleotide variant | NM_003638.3(ITGA8):c.2782G>A (p.Glu928Lys) | not provided [RCV002609868] | uncertain significance | 10 | 15548553 | 15548553 | Human | | name |
| 156098287 | CV2004774 | single nucleotide variant | NM_003638.3(ITGA8):c.1396C>T (p.Pro466Ser) | not provided [RCV002639482] | uncertain significance | 10 | 15644033 | 15644033 | Human | | name |
| 156060187 | CV2008222 | single nucleotide variant | NM_003638.3(ITGA8):c.1237A>G (p.Lys413Glu) | not provided [RCV002705358] | uncertain significance | 10 | 15644192 | 15644192 | Human | | name |
| 156211660 | CV2018896 | single nucleotide variant | NM_003638.3(ITGA8):c.1447G>A (p.Ala483Thr) | not provided [RCV002700650] | uncertain significance | 10 | 15613766 | 15613766 | Human | | name |
| 156374989 | CV2024605 | single nucleotide variant | NM_003638.3(ITGA8):c.1364G>A (p.Arg455Lys) | not provided [RCV002721841] | uncertain significance | 10 | 15644065 | 15644065 | Human | | name |
| 156114259 | CV2065606 | single nucleotide variant | NM_003638.3(ITGA8):c.2713A>C (p.Lys905Gln) | not provided [RCV002871017] | uncertain significance | 10 | 15558127 | 15558127 | Human | | name |
| 156066111 | CV2092814 | single nucleotide variant | NM_003638.3(ITGA8):c.2524G>A (p.Val842Met) | Inborn genetic diseases [RCV002886664]|not provided [RCV002886665] | uncertain significance | 10 | 15572324 | 15572324 | Human | 1 | name |
| 156326151 | CV2108579 | single nucleotide variant | NM_003638.3(ITGA8):c.2921T>C (p.Phe974Ser) | Inborn genetic diseases [RCV002938095]|not provided [RCV002938094] | uncertain significance | 10 | 15531111 | 15531111 | Human | 1 | name |
| 156321645 | CV2112077 | single nucleotide variant | NM_003638.3(ITGA8):c.1492A>G (p.Met498Val) | not provided [RCV002937795] | likely benign | 10 | 15613721 | 15613721 | Human | | name |
| 156309878 | CV2119922 | single nucleotide variant | NM_003638.3(ITGA8):c.2445G>T (p.Glu815Asp) | Inborn genetic diseases [RCV002962557]|not provided [RCV002962558] | uncertain significance | 10 | 15575522 | 15575522 | Human | 1 | name |
| 156374830 | CV2123993 | single nucleotide variant | NM_003638.3(ITGA8):c.1877A>G (p.Tyr626Cys) | not provided [RCV002942619] | uncertain significance | 10 | 15606310 | 15606310 | Human | | name |
| 156139385 | CV2129381 | single nucleotide variant | NM_003638.3(ITGA8):c.1502A>G (p.Asn501Ser) | not provided [RCV002954170] | uncertain significance | 10 | 15613711 | 15613711 | Human | | name |
| 155910066 | CV2131162 | single nucleotide variant | NM_003638.3(ITGA8):c.2341A>G (p.Ile781Val) | ITGA8-related disorder [RCV003906423]|not provided [RCV002967978] | likely benign | 10 | 15586615 | 15586615 | Human | 1 | name , trait , alternate_id |
| 156095560 | CV2139592 | single nucleotide variant | NM_003638.3(ITGA8):c.1553G>A (p.Cys518Tyr) | not provided [RCV002979777] | uncertain significance | 10 | 15613660 | 15613660 | Human | | name |
| 155969836 | CV2157924 | single nucleotide variant | NM_003638.3(ITGA8):c.1079T>G (p.Ile360Ser) | not provided [RCV003033382] | uncertain significance | 10 | 15646974 | 15646974 | Human | | name |
| 156333380 | CV2172032 | single nucleotide variant | NM_003638.3(ITGA8):c.2703T>A (p.His901Gln) | not provided [RCV003029893] | uncertain significance | 10 | 15558137 | 15558137 | Human | | name |
| 156253423 | CV2193067 | single nucleotide variant | NM_003638.3(ITGA8):c.1781G>A (p.Arg594Gln) | Inborn genetic diseases [RCV002668520] | uncertain significance | 10 | 15606406 | 15606406 | Human | 1 | name |
| 156068290 | CV2193715 | single nucleotide variant | NM_003638.3(ITGA8):c.2723T>C (p.Val908Ala) | Inborn genetic diseases [RCV002660090] | uncertain significance | 10 | 15558117 | 15558117 | Human | 1 | name |
| 156110372 | CV2207601 | single nucleotide variant | NM_003638.3(ITGA8):c.2813G>A (p.Arg938Gln) | Inborn genetic diseases [RCV002707159] | uncertain significance | 10 | 15548522 | 15548522 | Human | 1 | name |
| 156282156 | CV2220714 | single nucleotide variant | NM_003638.3(ITGA8):c.1501A>C (p.Asn501His) | Inborn genetic diseases [RCV002747170] | uncertain significance | 10 | 15613712 | 15613712 | Human | 1 | name |
| 156203410 | CV2234614 | single nucleotide variant | NM_003638.3(ITGA8):c.2545C>G (p.Arg849Gly) | Inborn genetic diseases [RCV002743593] | uncertain significance | 10 | 15572303 | 15572303 | Human | 1 | name |
| 156168636 | CV2247260 | single nucleotide variant | NM_003638.3(ITGA8):c.2224C>T (p.Leu742Phe) | Inborn genetic diseases [RCV002787929] | uncertain significance | 10 | 15592292 | 15592292 | Human | 1 | name |
| 155946340 | CV2266078 | single nucleotide variant | NM_003638.3(ITGA8):c.1472C>T (p.Ala491Val) | Inborn genetic diseases [RCV002839868] | uncertain significance | 10 | 15613741 | 15613741 | Human | 1 | name |
| 155914570 | CV2268417 | single nucleotide variant | NM_003638.3(ITGA8):c.2793A>C (p.Gln931His) | Inborn genetic diseases [RCV002858749] | uncertain significance | 10 | 15548542 | 15548542 | Human | 1 | name |
| 156125067 | CV2283600 | single nucleotide variant | NM_003638.3(ITGA8):c.2699C>G (p.Pro900Arg) | Inborn genetic diseases [RCV002849322] | uncertain significance | 10 | 15558141 | 15558141 | Human | 1 | name |
| 155905055 | CV2298916 | single nucleotide variant | NM_003638.3(ITGA8):c.1811T>C (p.Leu604Ser) | Inborn genetic diseases [RCV002901659] | uncertain significance | 10 | 15606376 | 15606376 | Human | 1 | name |
| 156386315 | CV2364715 | single nucleotide variant | NM_003638.3(ITGA8):c.2771G>C (p.Cys924Ser) | Inborn genetic diseases [RCV002679838] | uncertain significance | 10 | 15548564 | 15548564 | Human | 1 | name |
| 156099783 | CV2392892 | single nucleotide variant | NM_003638.3(ITGA8):c.1969C>T (p.Pro657Ser) | Inborn genetic diseases [RCV002784841] | uncertain significance | 10 | 15605725 | 15605725 | Human | 1 | name |
| 156149457 | CV2394579 | single nucleotide variant | NM_003638.3(ITGA8):c.1409T>C (p.Val470Ala) | ITGA8-related disorder [RCV004756487]|Inborn genetic diseases [RCV002764026] | uncertain significance | 10 | 15616550 | 15616550 | Human | 2 | name , trait , alternate_id |
| 156151408 | CV2394747 | single nucleotide variant | NM_003638.3(ITGA8):c.2443G>A (p.Glu815Lys) | Inborn genetic diseases [RCV002764138] | uncertain significance | 10 | 15575524 | 15575524 | Human | 1 | name |
| 156004902 | CV2397006 | single nucleotide variant | NM_003638.3(ITGA8):c.1336G>A (p.Val446Ile) | ITGA8-related disorder [RCV004756486]|Inborn genetic diseases [RCV002734474] | likely benign|uncertain significance | 10 | 15644093 | 15644093 | Human | 2 | name , trait , alternate_id |
| 243057900 | CV2405549 | single nucleotide variant | NM_003638.3(ITGA8):c.1159G>A (p.Gly387Ser) | Inborn genetic diseases [RCV003164824]|Renal hypodysplasia/aplasia 1 [RCV003133754] | uncertain significance | 10 | 15646894 | 15646894 | Human | 3 | name |
| 243057904 | CV2405551 | single nucleotide variant | NM_003638.3(ITGA8):c.2075T>A (p.Ile692Lys) | Renal hypodysplasia/aplasia 1 [RCV003133756] | uncertain significance | 10 | 15604251 | 15604251 | Human | 2 | name |
| 329382265 | CV2438658 | single nucleotide variant | NM_003638.3(ITGA8):c.1524G>T (p.Gln508His) | Inborn genetic diseases [RCV003175940] | uncertain significance | 10 | 15613689 | 15613689 | Human | 1 | name |
| 329355898 | CV2442385 | single nucleotide variant | NM_003638.3(ITGA8):c.1438G>A (p.Val480Ile) | Inborn genetic diseases [RCV003203055] | uncertain significance | 10 | 15616521 | 15616521 | Human | 1 | name |
| 329388680 | CV2447763 | single nucleotide variant | NM_003638.3(ITGA8):c.2275G>A (p.Asp759Asn) | Inborn genetic diseases [RCV003190739] | uncertain significance | 10 | 15592241 | 15592241 | Human | 1 | name |
| 329390861 | CV2455545 | single nucleotide variant | NM_003638.3(ITGA8):c.2383C>T (p.Pro795Ser) | Inborn genetic diseases [RCV003217010] | uncertain significance | 10 | 15575584 | 15575584 | Human | 1 | name |
| 329397461 | CV2456194 | single nucleotide variant | NM_003638.3(ITGA8):c.1435G>T (p.Ala479Ser) | Inborn genetic diseases [RCV003195543] | uncertain significance | 10 | 15616524 | 15616524 | Human | 1 | name |
| 329353007 | CV2468168 | single nucleotide variant | NM_003638.3(ITGA8):c.2444A>G (p.Glu815Gly) | Inborn genetic diseases [RCV003200943] | uncertain significance | 10 | 15575523 | 15575523 | Human | 1 | name |
| 329394930 | CV2472979 | single nucleotide variant | NM_003638.3(ITGA8):c.2317A>C (p.Asn773His) | not provided [RCV003218962] | uncertain significance | 10 | 15586639 | 15586639 | Human | | name |
| 401728776 | CV2673043 | single nucleotide variant | NM_003638.3(ITGA8):c.2387C>T (p.Pro796Leu) | Inborn genetic diseases [RCV003247585] | uncertain significance | 10 | 15575580 | 15575580 | Human | 1 | name |
| 401740396 | CV2684348 | single nucleotide variant | NM_003638.3(ITGA8):c.2674G>A (p.Ala892Thr) | Inborn genetic diseases [RCV003240653] | uncertain significance | 10 | 15558166 | 15558166 | Human | 1 | name |
| 401733149 | CV2685441 | single nucleotide variant | NM_003638.3(ITGA8):c.1125G>T (p.Gln375His) | Inborn genetic diseases [RCV003249106] | uncertain significance | 10 | 15646928 | 15646928 | Human | 1 | name |
| 401750444 | CV2696055 | single nucleotide variant | NM_003638.3(ITGA8):c.2054A>C (p.Glu685Ala) | Inborn genetic diseases [RCV003253653] | uncertain significance | 10 | 15604272 | 15604272 | Human | 1 | name |
| 401763503 | CV2714576 | single nucleotide variant | NM_003638.3(ITGA8):c.1706C>T (p.Pro569Leu) | Inborn genetic diseases [RCV003258231] | uncertain significance | 10 | 15607735 | 15607735 | Human | 1 | name |
| 401767278 | CV2718442 | single nucleotide variant | NM_003638.3(ITGA8):c.1424C>A (p.Thr475Lys) | Inborn genetic diseases [RCV003282812] | uncertain significance | 10 | 15616535 | 15616535 | Human | 1 | name |
| 401772374 | CV2719623 | single nucleotide variant | NM_003638.3(ITGA8):c.1559C>A (p.Ser520Tyr) | Inborn genetic diseases [RCV003304652] | uncertain significance | 10 | 15608285 | 15608285 | Human | 1 | name |
| 401766328 | CV2725328 | single nucleotide variant | NM_003638.3(ITGA8):c.1114A>G (p.Arg372Gly) | Inborn genetic diseases [RCV003282524] | uncertain significance | 10 | 15646939 | 15646939 | Human | 1 | name |
| 401887272 | CV2771850 | single nucleotide variant | NM_003638.3(ITGA8):c.1788A>T (p.Lys596Asn) | Inborn genetic diseases [RCV003352319] | uncertain significance | 10 | 15606399 | 15606399 | Human | 1 | name |
| 401865837 | CV2786169 | single nucleotide variant | NM_003638.3(ITGA8):c.1082A>C (p.Tyr361Ser) | Inborn genetic diseases [RCV003379478] | uncertain significance | 10 | 15646971 | 15646971 | Human | 1 | name |
| 401919804 | CV2794955 | single nucleotide variant | NM_003638.3(ITGA8):c.1961C>T (p.Ser654Leu) | Renal hypodysplasia/aplasia 1 [RCV003388701] | uncertain significance | 10 | 15605733 | 15605733 | Human | 2 | name |
| 401901783 | CV2804708 | single nucleotide variant | NM_003638.3(ITGA8):c.1492A>C (p.Met498Leu) | ITGA8-related disorder [RCV003393218] | uncertain significance | 10 | 15613721 | 15613721 | Human | | name , trait , alternate_id |
| 405082247 | CV3017000 | single nucleotide variant | NM_003638.3(ITGA8):c.2574T>G (p.His858Gln) | not provided [RCV003699132] | uncertain significance | 10 | 15572274 | 15572274 | Human | | name |
| 405141775 | CV3046145 | single nucleotide variant | NM_003638.3(ITGA8):c.1991T>C (p.Ile664Thr) | not provided [RCV003725708] | uncertain significance | 10 | 15604335 | 15604335 | Human | | name |
| 405192491 | CV3069941 | single nucleotide variant | NM_003638.3(ITGA8):c.2734G>A (p.Glu912Lys) | not provided [RCV003729736] | uncertain significance | 10 | 15558106 | 15558106 | Human | | name |
| 405805634 | CV3267938 | single nucleotide variant | NM_003638.3(ITGA8):c.1525G>T (p.Val509Phe) | Inborn genetic diseases [RCV004405643] | uncertain significance | 10 | 15613688 | 15613688 | Human | 1 | name |
| 405805636 | CV3267939 | single nucleotide variant | NM_003638.3(ITGA8):c.1571G>C (p.Cys524Ser) | Inborn genetic diseases [RCV004405644] | uncertain significance | 10 | 15608273 | 15608273 | Human | 1 | name |
| 405805639 | CV3267940 | single nucleotide variant | NM_003638.3(ITGA8):c.1624G>T (p.Val542Leu) | Inborn genetic diseases [RCV004405645] | uncertain significance | 10 | 15607817 | 15607817 | Human | 1 | name |
| 405805642 | CV3267942 | single nucleotide variant | NM_003638.3(ITGA8):c.2104G>A (p.Glu702Lys) | Inborn genetic diseases [RCV004405647] | uncertain significance | 10 | 15604222 | 15604222 | Human | 1 | name |
| 405805644 | CV3267943 | single nucleotide variant | NM_003638.3(ITGA8):c.2194A>G (p.Met732Val) | Inborn genetic diseases [RCV004405648] | uncertain significance | 10 | 15597224 | 15597224 | Human | 1 | name |
| 405805646 | CV3267944 | single nucleotide variant | NM_003638.3(ITGA8):c.2362G>A (p.Glu788Lys) | Inborn genetic diseases [RCV004405649] | uncertain significance | 10 | 15586594 | 15586594 | Human | 1 | name |
| 405805648 | CV3267945 | single nucleotide variant | NM_003638.3(ITGA8):c.2442G>C (p.Glu814Asp) | Inborn genetic diseases [RCV004405650] | uncertain significance | 10 | 15575525 | 15575525 | Human | 1 | name |
| 405805650 | CV3267946 | single nucleotide variant | NM_003638.3(ITGA8):c.2926G>A (p.Val976Ile) | Inborn genetic diseases [RCV004405651] | uncertain significance | 10 | 15531106 | 15531106 | Human | 1 | name |
| 405805652 | CV3267947 | single nucleotide variant | NM_003638.3(ITGA8):c.2975G>A (p.Ser992Asn) | Inborn genetic diseases [RCV004405652]|not provided [RCV005104482] | uncertain significance | 10 | 15531057 | 15531057 | Human | 1 | name |
| 407458697 | CV3451612 | single nucleotide variant | NM_003638.3(ITGA8):c.1393T>C (p.Tyr465His) | Inborn genetic diseases [RCV004633378] | uncertain significance | 10 | 15644036 | 15644036 | Human | 1 | name |
| 407458702 | CV3451614 | single nucleotide variant | NM_003638.3(ITGA8):c.2774C>A (p.Thr925Lys) | Inborn genetic diseases [RCV004633380] | uncertain significance | 10 | 15548561 | 15548561 | Human | 1 | name |
| 407458705 | CV3451615 | single nucleotide variant | NM_003638.3(ITGA8):c.2849G>C (p.Arg950Thr) | Inborn genetic diseases [RCV004633381] | uncertain significance | 10 | 15548486 | 15548486 | Human | 1 | name |
| 407458707 | CV3451616 | single nucleotide variant | NM_003638.3(ITGA8):c.1891G>C (p.Val631Leu) | Inborn genetic diseases [RCV004633382] | uncertain significance | 10 | 15606296 | 15606296 | Human | 1 | name |
| 407458710 | CV3451617 | single nucleotide variant | NM_003638.3(ITGA8):c.2387C>G (p.Pro796Arg) | Inborn genetic diseases [RCV004633383] | uncertain significance | 10 | 15575580 | 15575580 | Human | 1 | name |
| 407458717 | CV3451620 | single nucleotide variant | NM_003638.3(ITGA8):c.1696C>A (p.Arg566Ser) | Inborn genetic diseases [RCV004633386] | uncertain significance | 10 | 15607745 | 15607745 | Human | 1 | name |
| 407458720 | CV3451621 | single nucleotide variant | NM_003638.3(ITGA8):c.1279G>A (p.Asp427Asn) | Inborn genetic diseases [RCV004633387] | uncertain significance | 10 | 15644150 | 15644150 | Human | 1 | name |
| 408366750 | CV3515929 | single nucleotide variant | NM_003638.3(ITGA8):c.1780C>T (p.Arg594Ter) | ITGA8-related disorder [RCV004756991] | pathogenic | 10 | 15606407 | 15606407 | Human | | name , trait , alternate_id |
| 597701137 | CV3686838 | single nucleotide variant | NM_003638.3(ITGA8):c.1064G>A (p.Arg355Lys) | Inborn genetic diseases [RCV004988033] | uncertain significance | 10 | 15646989 | 15646989 | Human | 1 | name |
| 597701142 | CV3686839 | single nucleotide variant | NM_003638.3(ITGA8):c.2234C>T (p.Ala745Val) | Inborn genetic diseases [RCV004988034] | uncertain significance | 10 | 15592282 | 15592282 | Human | 1 | name |
| 597701148 | CV3686840 | single nucleotide variant | NM_003638.3(ITGA8):c.2504T>C (p.Ile835Thr) | Inborn genetic diseases [RCV004988035] | uncertain significance | 10 | 15572344 | 15572344 | Human | 1 | name |
| 597701154 | CV3686841 | single nucleotide variant | NM_003638.3(ITGA8):c.1667C>T (p.Thr556Met) | Inborn genetic diseases [RCV004988036] | uncertain significance | 10 | 15607774 | 15607774 | Human | 1 | name |
| 597701159 | CV3686842 | single nucleotide variant | NM_003638.3(ITGA8):c.2275G>C (p.Asp759His) | Inborn genetic diseases [RCV004988037] | uncertain significance | 10 | 15592241 | 15592241 | Human | 1 | name |
| 597701166 | CV3686843 | single nucleotide variant | NM_003638.3(ITGA8):c.1753G>A (p.Val585Ile) | Inborn genetic diseases [RCV004988038] | uncertain significance | 10 | 15607688 | 15607688 | Human | 1 | name |
| 597701188 | CV3686847 | single nucleotide variant | NM_003638.3(ITGA8):c.2980G>A (p.Val994Ile) | Inborn genetic diseases [RCV004988042] | uncertain significance | 10 | 15531052 | 15531052 | Human | 1 | name |
| 597701193 | CV3686848 | single nucleotide variant | NM_003638.3(ITGA8):c.2432C>T (p.Pro811Leu) | Inborn genetic diseases [RCV004988043] | uncertain significance | 10 | 15575535 | 15575535 | Human | 1 | name |
| 597701208 | CV3686851 | single nucleotide variant | NM_003638.3(ITGA8):c.2748G>C (p.Gln916His) | Inborn genetic diseases [RCV004988046] | uncertain significance | 10 | 15558092 | 15558092 | Human | 1 | name |
| 597701214 | CV3686852 | single nucleotide variant | NM_003638.3(ITGA8):c.1681A>G (p.Asn561Asp) | Inborn genetic diseases [RCV004988047] | uncertain significance | 10 | 15607760 | 15607760 | Human | 1 | name |
| 597701220 | CV3686853 | single nucleotide variant | NM_003638.3(ITGA8):c.2108G>T (p.Arg703Leu) | Inborn genetic diseases [RCV004988048] | uncertain significance | 10 | 15604218 | 15604218 | Human | 1 | name |
| 597975523 | CV3799194 | single nucleotide variant | NM_003638.3(ITGA8):c.2395G>T (p.Val799Phe) | not provided [RCV005144590] | likely benign | 10 | 15575572 | 15575572 | Human | | name |
| 597948093 | CV3800870 | single nucleotide variant | NM_003638.3(ITGA8):c.1345G>A (p.Gly449Arg) | Inborn genetic diseases [RCV005353410]|not provided [RCV005135270] | uncertain significance | 10 | 15644084 | 15644084 | Human | 1 | name |
| 598171025 | CV3972666 | single nucleotide variant | NM_003638.3(ITGA8):c.1435G>A (p.Ala479Thr) | Inborn genetic diseases [RCV005370487] | uncertain significance | 10 | 15616524 | 15616524 | Human | 1 | name |
| 598171027 | CV3972667 | single nucleotide variant | NM_003638.3(ITGA8):c.2725C>G (p.His909Asp) | Inborn genetic diseases [RCV005370488] | uncertain significance | 10 | 15558115 | 15558115 | Human | 1 | name |
| 598195669 | CV3972669 | single nucleotide variant | NM_003638.3(ITGA8):c.2712G>C (p.Arg904Ser) | Inborn genetic diseases [RCV005355037] | uncertain significance | 10 | 15558128 | 15558128 | Human | 1 | name |
| 598195678 | CV3972672 | single nucleotide variant | NM_003638.3(ITGA8):c.1984G>T (p.Val662Leu) | Inborn genetic diseases [RCV005355039] | uncertain significance | 10 | 15604342 | 15604342 | Human | 1 | name |
| 598195683 | CV3972673 | single nucleotide variant | NM_003638.3(ITGA8):c.2077C>G (p.Pro693Ala) | Inborn genetic diseases [RCV005355040] | uncertain significance | 10 | 15604249 | 15604249 | Human | 1 | name |
| 598195684 | CV3972674 | single nucleotide variant | NM_003638.3(ITGA8):c.2099G>C (p.Gly700Ala) | Inborn genetic diseases [RCV005355041] | uncertain significance | 10 | 15604227 | 15604227 | Human | 1 | name |
| 598171037 | CV3972678 | single nucleotide variant | NM_003638.3(ITGA8):c.1690G>A (p.Ala564Thr) | Inborn genetic diseases [RCV005370491] | uncertain significance | 10 | 15607751 | 15607751 | Human | 1 | name |
| 598195700 | CV3972679 | single nucleotide variant | NM_003638.3(ITGA8):c.1469A>C (p.Asp490Ala) | Inborn genetic diseases [RCV005355045] | uncertain significance | 10 | 15613744 | 15613744 | Human | 1 | name |
| 13832469 | CV582964 | single nucleotide variant | NM_003638.3(ITGA8):c.2139T>G (p.Cys713Trp) | not provided [RCV000723158] | uncertain significance | 10 | 15597279 | 15597279 | Human | | name |
| 15105338 | CV712283 | single nucleotide variant | NM_003638.3(ITGA8):c.2977A>G (p.Ile993Val) | Renal hypodysplasia/aplasia 1 [RCV002489346]|not provided [RCV000959865] | benign|likely benign | 10 | 15531055 | 15531055 | Human | 2 | name |
| 15118529 | CV712284 | single nucleotide variant | NM_003638.3(ITGA8):c.2803G>A (p.Ala935Thr) | Renal hypodysplasia/aplasia 1 [RCV002489365]|not provided [RCV000962397] | benign|likely benign | 10 | 15548532 | 15548532 | Human | 2 | name |
| 15108836 | CV723868 | single nucleotide variant | NM_003638.3(ITGA8):c.2321T>A (p.Phe774Tyr) | Inborn genetic diseases [RCV004629372]|not provided [RCV000893745] | likely benign|uncertain significance | 10 | 15586635 | 15586635 | Human | 1 | name |
| 15160218 | CV723869 | single nucleotide variant | NM_003638.3(ITGA8):c.2243G>A (p.Arg748His) | not provided [RCV000881340] | benign | 10 | 15592273 | 15592273 | Human | | name |
| 8633565 | CV88780 | single nucleotide variant | NM_003638.2(ITGA8):c.1528C>T (p.Pro510Ser) | Malignant melanoma [RCV000068875] | not provided | 10 | 15613685 | 15613685 | Human | | name |
| 150458115 | CV1237170 | insertion | NM_003638.3(ITGA8):c.1001+258_1001+259insAA | not provided [RCV001648849] | benign | 10 | 15655095 | 15655096 | Human | | name |
| 156158106 | CV2118394 | single nucleotide variant | NM_003638.3(ITGA8):c.3079G>A (p.Ala1027Thr) | Inborn genetic diseases [RCV004068069]|not provided [RCV002929141] | likely benign|uncertain significance | 10 | 15519316 | 15519316 | Human | 1 | name |
| 156132722 | CV2195899 | single nucleotide variant | NM_003638.3(ITGA8):c.3011C>T (p.Pro1004Leu) | Inborn genetic diseases [RCV002640785] | uncertain significance | 10 | 15519384 | 15519384 | Human | 1 | name |
| 155936424 | CV2380444 | single nucleotide variant | NM_003638.3(ITGA8):c.3171T>A (p.Asn1057Lys) | Inborn genetic diseases [RCV002729537] | uncertain significance | 10 | 15517179 | 15517179 | Human | 1 | name |
| 401767825 | CV2677829 | single nucleotide variant | NM_003638.3(ITGA8):c.3013A>G (p.Asn1005Asp) | Inborn genetic diseases [RCV003259937] | uncertain significance | 10 | 15519382 | 15519382 | Human | 1 | name |
| 597701177 | CV3686845 | single nucleotide variant | NM_003638.3(ITGA8):c.3167C>A (p.Thr1056Lys) | Inborn genetic diseases [RCV004988040] | uncertain significance | 10 | 15517183 | 15517183 | Human | 1 | name |
| 8633564 | CV88779 | single nucleotide variant | NM_003638.2(ITGA8):c.3020C>T (p.Ser1007Phe) | Malignant melanoma [RCV000068874] | not provided | 10 | 15519375 | 15519375 | Human | | name |
| 8591277 | CV132023 | deletion | NM_003638.3(ITGA8):c.1622_1626del (p.Glu541fs) | Renal hypodysplasia/aplasia 1 [RCV000114394] | pathogenic | 10 | 15607815 | 15607819 | Human | 2 | name |