| 127233256 | CV1082445 | single nucleotide variant | NM_199355.4(ADAMTS18):c.91-7C>T | not provided [RCV001413807] | likely benign | 16 | 77434512 | 77434512 | Human | | name |
| 151879620 | CV1395632 | single nucleotide variant | NM_199355.4(ADAMTS18):c.91-1G>C | not provided [RCV001999364] | likely pathogenic | 16 | 77434506 | 77434506 | Human | | name |
| 156181812 | CV2020513 | single nucleotide variant | NM_199355.4(ADAMTS18):c.91-8T>C | not provided [RCV002710806] | likely benign | 16 | 77434513 | 77434513 | Human | | name |
| 155998834 | CV2057301 | single nucleotide variant | NM_199355.4(ADAMTS18):c.90+3A>G | not provided [RCV002819550] | uncertain significance | 16 | 77434603 | 77434603 | Human | | name |
| 405230330 | CV3153565 | single nucleotide variant | NM_199355.4(ADAMTS18):c.90+8C>T | not provided [RCV003848630] | likely benign | 16 | 77434598 | 77434598 | Human | | name |
| 405243993 | CV3161161 | single nucleotide variant | NM_199355.4(ADAMTS18):c.91-2A>G | not provided [RCV003868070] | likely pathogenic | 16 | 77434507 | 77434507 | Human | | name |
| 127234839 | CV1104247 | single nucleotide variant | NM_199355.4(ADAMTS18):c.179-4G>C | not provided [RCV001432972] | likely benign | 16 | 77431615 | 77431615 | Human | | name |
| 127309801 | CV1125654 | single nucleotide variant | NM_199355.4(ADAMTS18):c.779-4G>A | not provided [RCV001456440] | likely benign | 16 | 77364385 | 77364385 | Human | | name |
| 127299829 | CV1146541 | single nucleotide variant | NM_199355.4(ADAMTS18):c.972+7G>A | ADAMTS18-related disorder [RCV003931020]|not provided [RCV001498422] | likely benign | 16 | 77364181 | 77364181 | Human | 1 | name , alternate_id |
| 127325932 | CV1146545 | single nucleotide variant | NM_199355.4(ADAMTS18):c.90+13G>T | not provided [RCV001506137] | likely benign | 16 | 77434593 | 77434593 | Human | | name |
| 127312841 | CV1157863 | single nucleotide variant | NM_199355.4(ADAMTS18):c.972+4A>G | not provided [RCV001519077] | benign | 16 | 77364184 | 77364184 | Human | | name |
| 151831966 | CV1439081 | single nucleotide variant | NM_199355.4(ADAMTS18):c.972+6C>T | not provided [RCV001976737] | uncertain significance | 16 | 77364182 | 77364182 | Human | | name |
| 152168350 | CV1558644 | single nucleotide variant | NM_199355.4(ADAMTS18):c.973-8T>C | not provided [RCV002142412] | likely benign | 16 | 77363893 | 77363893 | Human | | name |
| 152156243 | CV1573024 | single nucleotide variant | NM_199355.4(ADAMTS18):c.779-5C>T | not provided [RCV002180177] | likely benign | 16 | 77364386 | 77364386 | Human | | name |
| 152140795 | CV1625197 | single nucleotide variant | NM_199355.4(ADAMTS18):c.90+20G>A | not provided [RCV002219344] | likely benign | 16 | 77434586 | 77434586 | Human | | name |
| 152125320 | CV1630166 | single nucleotide variant | NM_199355.4(ADAMTS18):c.779-7A>G | not provided [RCV002154790] | likely benign | 16 | 77364388 | 77364388 | Human | | name |
| 156415538 | CV1958688 | single nucleotide variant | NM_199355.4(ADAMTS18):c.972+7G>T | not provided [RCV002589223] | likely benign | 16 | 77364181 | 77364181 | Human | | name |
| 156373031 | CV2003646 | single nucleotide variant | NM_199355.4(ADAMTS18):c.179-7A>G | not provided [RCV002653062] | likely benign | 16 | 77431618 | 77431618 | Human | | name |
| 156237543 | CV2090270 | single nucleotide variant | NM_199355.4(ADAMTS18):c.495+9A>G | not provided [RCV002894793] | likely benign | 16 | 77431286 | 77431286 | Human | | name |
| 156399736 | CV2185940 | single nucleotide variant | NM_199355.4(ADAMTS18):c.179-2A>G | not provided [RCV003052199] | likely pathogenic | 16 | 77431613 | 77431613 | Human | | name |
| 401919578 | CV2798487 | single nucleotide variant | NM_199355.4(ADAMTS18):c.778+5G>T | ADAMTS18-related disorder [RCV003402406] | likely pathogenic | 16 | 77367436 | 77367436 | Human | | name , trait , alternate_id |
| 405218515 | CV2873581 | single nucleotide variant | NM_199355.4(ADAMTS18):c.496-8C>T | not provided [RCV003553455] | likely benign | 16 | 77367731 | 77367731 | Human | | name |
| 402466303 | CV2914710 | single nucleotide variant | NM_199355.4(ADAMTS18):c.91-20T>C | not provided [RCV003569420] | likely benign | 16 | 77434525 | 77434525 | Human | | name |
| 405224815 | CV2979520 | single nucleotide variant | NM_199355.4(ADAMTS18):c.972+7G>C | not provided [RCV003681244] | likely benign | 16 | 77364181 | 77364181 | Human | | name |
| 405150595 | CV3123217 | single nucleotide variant | NM_199355.4(ADAMTS18):c.90+10G>T | not provided [RCV003817450] | likely benign | 16 | 77434596 | 77434596 | Human | | name |
| 38485653 | CV940372 | single nucleotide variant | NM_199355.4(ADAMTS18):c.778+4T>G | not provided [RCV001208569] | uncertain significance | 16 | 77367437 | 77367437 | Human | | name |
| 126752950 | CV1012396 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3402+4G>T | not provided [RCV001316401] | uncertain significance | 16 | 77291262 | 77291262 | Human | | name |
| 126757655 | CV1012399 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3007-7T>G | not provided [RCV001317554] | uncertain significance | 16 | 77293265 | 77293265 | Human | | name |
| 126749763 | CV1032884 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3403-8T>G | not provided [RCV001352112] | uncertain significance | 16 | 77289419 | 77289419 | Human | | name |
| 127242691 | CV1056342 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3403-1G>A | not provided [RCV001376970] | likely pathogenic | 16 | 77289412 | 77289412 | Human | | name |
| 127247640 | CV1056343 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2287+2T>G | not provided [RCV001377812] | likely pathogenic | 16 | 77321077 | 77321077 | Human | | name |
| 127253378 | CV1082423 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3007-6C>G | not provided [RCV001418260] | likely benign | 16 | 77293264 | 77293264 | Human | | name |
| 127250789 | CV1082424 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2801+8A>C | not provided [RCV001399946] | likely benign | 16 | 77297281 | 77297281 | Human | | name |
| 127233140 | CV1082428 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2164-5C>A | not provided [RCV001396006] | likely benign | 16 | 77321207 | 77321207 | Human | | name |
| 127241420 | CV1082436 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1217-5A>G | ADAMTS18-related disorder [RCV003946045]|not provided [RCV001397985] | likely benign | 16 | 77359428 | 77359428 | Human | 1 | name , alternate_id |
| 127242931 | CV1082444 | single nucleotide variant | NM_199355.4(ADAMTS18):c.178+17C>T | not provided [RCV001416039] | likely benign | 16 | 77434401 | 77434401 | Human | | name |
| 127291148 | CV1125640 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1710+7T>C | ADAMTS18-related disorder [RCV004753341]|not provided [RCV001475982] | likely benign | 16 | 77341697 | 77341697 | Human | 1 | name , alternate_id |
| 127289017 | CV1125643 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1615-8T>A | not provided [RCV001450734] | likely benign | 16 | 77341807 | 77341807 | Human | | name |
| 127309179 | CV1125646 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1460+8A>G | not provided [RCV001456239] | likely benign | 16 | 77355932 | 77355932 | Human | | name |
| 127334221 | CV1125648 | duplication | NM_199355.4(ADAMTS18):c.1217-6dup | not provided [RCV001473452] | likely benign | 16 | 77359428 | 77359429 | Human | | name |
| 127295087 | CV1125649 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1056+8G>A | not provided [RCV001477015] | likely benign | 16 | 77363794 | 77363794 | Human | | name |
| 127310339 | CV1125651 | deletion | NM_199355.4(ADAMTS18):c.972+11del | not provided [RCV001463834] | likely benign | 16 | 77364177 | 77364177 | Human | | name |
| 127335556 | CV1146522 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3190-4C>T | not provided [RCV001491601] | likely benign | 16 | 77291482 | 77291482 | Human | | name |
| 127312417 | CV1146526 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3007-4C>G | not provided [RCV001501921] | likely benign | 16 | 77293262 | 77293262 | Human | | name |
| 127331828 | CV1146539 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1322+9C>G | not provided [RCV001489083] | likely benign | 16 | 77359309 | 77359309 | Human | | name |
| 127308762 | CV1157840 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3403-4G>A | not provided [RCV001517630] | benign | 16 | 77289415 | 77289415 | Human | | name |
| 127294755 | CV1157857 | deletion | NM_199355.4(ADAMTS18):c.1615-8del | not provided [RCV001511904] | benign | 16 | 77341807 | 77341807 | Human | | name |
| 127312835 | CV1157861 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1322+8C>G | not provided [RCV001519076] | benign | 16 | 77359310 | 77359310 | Human | | name |
| 150548100 | CV1314135 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3007-1G>C | not provided [RCV002541172] | likely pathogenic | 16 | 77293259 | 77293259 | Human | | name |
| 151876878 | CV1345036 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2032+5T>C | not provided [RCV001999045] | uncertain significance | 16 | 77325861 | 77325861 | Human | | name |
| 151724058 | CV1356921 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3006+1G>A | not provided [RCV001966361] | pathogenic|likely pathogenic | 16 | 77294922 | 77294922 | Human | | name |
| 151835743 | CV1374828 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3403-9C>A | not provided [RCV001920955] | likely benign|uncertain significance | 16 | 77289420 | 77289420 | Human | | name |
| 151863409 | CV1498513 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1614+4T>C | not provided [RCV001980421] | uncertain significance | 16 | 77353729 | 77353729 | Human | | name |
| 151888456 | CV1502227 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1460+3A>G | not provided [RCV001942591] | uncertain significance | 16 | 77355937 | 77355937 | Human | | name |
| 152060171 | CV1532846 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2033-4C>T | not provided [RCV002208558] | likely benign | 16 | 77322470 | 77322470 | Human | | name |
| 152146758 | CV1545746 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1057-3T>C | not provided [RCV002157552] | likely benign | 16 | 77362267 | 77362267 | Human | | name |
| 152072050 | CV1551579 | duplication | NM_199355.4(ADAMTS18):c.1615-8dup | not provided [RCV002075237] | benign | 16 | 77341806 | 77341807 | Human | | name |
| 152035638 | CV1553013 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3550+9G>A | not provided [RCV002187440] | likely benign | 16 | 77289255 | 77289255 | Human | | name |
| 152125159 | CV1554019 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2533-6G>C | not provided [RCV002098717] | likely benign | 16 | 77300410 | 77300410 | Human | | name |
| 152083773 | CV1554783 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1323-4T>G | not provided [RCV002211767] | likely benign | 16 | 77356081 | 77356081 | Human | | name |
| 152096615 | CV1565998 | single nucleotide variant | NM_199355.4(ADAMTS18):c.179-20C>G | not provided [RCV002094927] | likely benign | 16 | 77431631 | 77431631 | Human | | name |
| 152029865 | CV1568719 | single nucleotide variant | NM_199355.4(ADAMTS18):c.178+14C>G | not provided [RCV002186299] | likely benign | 16 | 77434404 | 77434404 | Human | | name |
| 152149319 | CV1569291 | single nucleotide variant | NM_199355.4(ADAMTS18):c.778+20C>G | not provided [RCV002220549] | likely benign | 16 | 77367421 | 77367421 | Human | | name |
| 152157191 | CV1573159 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1859+9C>G | not provided [RCV002180280] | likely benign | 16 | 77335747 | 77335747 | Human | | name |
| 152113024 | CV1573412 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2533-7T>C | not provided [RCV002215752] | likely benign | 16 | 77300411 | 77300411 | Human | | name |
| 152118977 | CV1575939 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3402+8C>G | not provided [RCV002197787] | likely benign | 16 | 77291258 | 77291258 | Human | | name |
| 152077365 | CV1601847 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2288-7C>T | not provided [RCV002148863] | likely benign | 16 | 77320100 | 77320100 | Human | | name |
| 152108804 | CV1604015 | single nucleotide variant | NM_199355.4(ADAMTS18):c.179-15C>G | not provided [RCV002079965] | likely benign | 16 | 77431626 | 77431626 | Human | | name |
| 152109133 | CV1604170 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2163+7G>T | not provided [RCV002080006] | likely benign | 16 | 77322329 | 77322329 | Human | | name |
| 152052228 | CV1617374 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1217-4A>T | not provided [RCV002072522] | likely benign | 16 | 77359427 | 77359427 | Human | | name |
| 152061833 | CV1618592 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1711-7T>C | not provided [RCV002090342] | likely benign | 16 | 77335911 | 77335911 | Human | | name |
| 152034086 | CV1634738 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1217-8T>G | not provided [RCV002086911] | likely benign | 16 | 77359431 | 77359431 | Human | | name |
| 152139259 | CV1638092 | single nucleotide variant | NM_199355.4(ADAMTS18):c.779-11G>T | not provided [RCV002177837] | likely benign | 16 | 77364392 | 77364392 | Human | | name |
| 152160608 | CV1650185 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2674+7G>C | not provided [RCV002159569] | likely benign | 16 | 77300256 | 77300256 | Human | | name |
| 152115385 | CV1653541 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2802-5G>A | not provided [RCV002153589] | likely benign | 16 | 77295132 | 77295132 | Human | | name |
| 156164609 | CV1929909 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1710+8G>T | not provided [RCV002624503] | likely benign | 16 | 77341696 | 77341696 | Human | | name |
| 156228846 | CV1955902 | single nucleotide variant | NM_199355.4(ADAMTS18):c.778+18T>G | not provided [RCV002575796] | likely benign | 16 | 77367423 | 77367423 | Human | | name |
| 156406610 | CV1963694 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3189+2T>A | not provided [RCV002585962] | likely pathogenic | 16 | 77293074 | 77293074 | Human | | name |
| 156336613 | CV1988356 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2533-9A>G | not provided [RCV002631216] | likely benign | 16 | 77300413 | 77300413 | Human | | name |
| 156103285 | CV1992068 | duplication | NM_199355.4(ADAMTS18):c.178+17dup | not provided [RCV002622294] | benign | 16 | 77434400 | 77434401 | Human | | name |
| 156311056 | CV2000086 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1217-4A>G | not provided [RCV002671638] | uncertain significance | 16 | 77359427 | 77359427 | Human | | name |
| 156359715 | CV2006942 | single nucleotide variant | NM_199355.4(ADAMTS18):c.495+15G>A | not provided [RCV002676165] | likely benign | 16 | 77431280 | 77431280 | Human | | name |
| 156066755 | CV2018374 | single nucleotide variant | NM_199355.4(ADAMTS18):c.778+15T>C | not provided [RCV002705555] | likely benign | 16 | 77367426 | 77367426 | Human | | name |
| 156044216 | CV2071823 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2802-9C>T | not provided [RCV002846214] | likely benign | 16 | 77295136 | 77295136 | Human | | name |
| 156086370 | CV2080064 | single nucleotide variant | NM_199355.4(ADAMTS18):c.972+18A>G | not provided [RCV002847559] | likely benign | 16 | 77364170 | 77364170 | Human | | name |
| 156214750 | CV2085201 | single nucleotide variant | NM_199355.4(ADAMTS18):c.178+12C>A | not provided [RCV002893943] | likely benign | 16 | 77434406 | 77434406 | Human | | name |
| 156261025 | CV2099116 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3550+1G>A | not provided [RCV002895580] | uncertain significance | 16 | 77289263 | 77289263 | Human | | name |
| 156314153 | CV2107806 | single nucleotide variant | NM_199355.4(ADAMTS18):c.178+18A>C | not provided [RCV002937342] | likely benign | 16 | 77434400 | 77434400 | Human | | name |
| 156243687 | CV2147572 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3550+3A>G | not provided [RCV003026099] | uncertain significance | 16 | 77289261 | 77289261 | Human | | name |
| 156315916 | CV2158727 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1216+5G>A | not provided [RCV003028858] | uncertain significance | 16 | 77362100 | 77362100 | Human | | name |
| 156228381 | CV2164849 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2802-8A>G | ADAMTS18-related disorder [RCV003963564]|not provided [RCV003042990] | likely benign | 16 | 77295135 | 77295135 | Human | 1 | name , alternate_id |
| 156021667 | CV2174250 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2164-5C>T | not provided [RCV003035760] | likely benign | 16 | 77321207 | 77321207 | Human | | name |
| 156342484 | CV2175026 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2533-1G>A | not provided [RCV003047814] | likely pathogenic | 16 | 77300405 | 77300405 | Human | | name |
| 156214254 | CV2176493 | single nucleotide variant | NM_199355.4(ADAMTS18):c.779-18C>T | not provided [RCV003024931] | likely benign | 16 | 77364399 | 77364399 | Human | | name |
| 156402880 | CV2189598 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3402+1G>A | not provided [RCV003052486] | likely pathogenic | 16 | 77291265 | 77291265 | Human | | name |
| 405223768 | CV2919170 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1216+4T>C | not provided [RCV003568821] | uncertain significance | 16 | 77362101 | 77362101 | Human | | name |
| 405011907 | CV2933632 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1711-8T>G | not provided [RCV003576715] | likely benign | 16 | 77335912 | 77335912 | Human | | name |
| 405080907 | CV2945637 | duplication | NM_199355.4(ADAMTS18):c.972+11dup | not provided [RCV003664584] | benign | 16 | 77364176 | 77364177 | Human | | name |
| 405177279 | CV2952069 | single nucleotide variant | NM_199355.4(ADAMTS18):c.178+12C>T | not provided [RCV003675942] | likely benign | 16 | 77434406 | 77434406 | Human | | name |
| 405122205 | CV2952556 | single nucleotide variant | NM_199355.4(ADAMTS18):c.973-10G>T | not provided [RCV003671554] | likely benign | 16 | 77363895 | 77363895 | Human | | name |
| 405218046 | CV2968628 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3007-6C>T | not provided [RCV003680284] | likely benign | 16 | 77293264 | 77293264 | Human | | name |
| 405203708 | CV2986170 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3402+2T>G | not provided [RCV003678464] | likely pathogenic | 16 | 77291264 | 77291264 | Human | | name |
| 405025654 | CV2999855 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1710+9C>A | not provided [RCV003695191] | likely benign | 16 | 77341695 | 77341695 | Human | | name |
| 405182690 | CV3031865 | single nucleotide variant | NM_199355.4(ADAMTS18):c.779-18C>G | not provided [RCV003705698] | likely benign | 16 | 77364399 | 77364399 | Human | | name |
| 405103634 | CV3116242 | single nucleotide variant | NM_199355.4(ADAMTS18):c.778+17T>C | not provided [RCV003811958] | likely benign | 16 | 77367424 | 77367424 | Human | | name |
| 405131545 | CV3163725 | single nucleotide variant | NM_199355.4(ADAMTS18):c.973-13A>C | not provided [RCV003854713] | likely benign | 16 | 77363898 | 77363898 | Human | | name |
| 405236188 | CV3168988 | single nucleotide variant | NM_199355.4(ADAMTS18):c.178+17C>A | not provided [RCV003866267] | likely benign | 16 | 77434401 | 77434401 | Human | | name |
| 597856966 | CV3748113 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3550+9G>T | not provided [RCV005066935] | likely benign | 16 | 77289255 | 77289255 | Human | | name |
| 597925640 | CV3783194 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2287+7G>C | not provided [RCV005115880] | likely benign | 16 | 77321072 | 77321072 | Human | | name |
| 597963493 | CV3791968 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1860-9C>T | not provided [RCV005139524] | likely benign | 16 | 77326047 | 77326047 | Human | | name |
| 597951818 | CV3815439 | single nucleotide variant | NM_199355.4(ADAMTS18):c.178+13C>T | not provided [RCV005161389] | likely benign | 16 | 77434405 | 77434405 | Human | | name |
| 597925981 | CV3855300 | single nucleotide variant | NM_199355.4(ADAMTS18):c.495+20A>C | not provided [RCV005205899] | likely benign | 16 | 77431275 | 77431275 | Human | | name |
| 15141076 | CV779774 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3403-4G>C | not provided [RCV000966247] | benign | 16 | 77289415 | 77289415 | Human | | name |
| 38481395 | CV960178 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3403-9C>G | not provided [RCV001235098] | likely benign|uncertain significance | 16 | 77289420 | 77289420 | Human | | name |
| 127275545 | CV1082430 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1711-10C>T | not provided [RCV001406764] | likely benign | 16 | 77335914 | 77335914 | Human | | name |
| 127300550 | CV1125634 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2533-10C>T | not provided [RCV001478437] | likely benign | 16 | 77300414 | 77300414 | Human | | name |
| 127297645 | CV1125638 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2163+10C>T | not provided [RCV001453105] | likely benign | 16 | 77322326 | 77322326 | Human | | name |
| 127297754 | CV1146529 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2533-14C>G | not provided [RCV001497841] | likely benign | 16 | 77300418 | 77300418 | Human | | name |
| 127335117 | CV1146530 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2532+12C>T | not provided [RCV001491285] | likely benign | 16 | 77319837 | 77319837 | Human | | name |
| 127316005 | CV1146536 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1461-13A>G | not provided [RCV001482652] | likely benign | 16 | 77353899 | 77353899 | Human | | name |
| 127312749 | CV1157838 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3551-17A>T | not provided [RCV001519048] | benign | 16 | 77284088 | 77284088 | Human | | name |
| 127296484 | CV1157842 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3190-16C>G | not provided [RCV001512524] | benign | 16 | 77291494 | 77291494 | Human | | name |
| 127296503 | CV1157848 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2533-20T>G | not provided [RCV001512529] | benign | 16 | 77300424 | 77300424 | Human | | name |
| 127297730 | CV1157854 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2163+11G>A | not provided [RCV001512990] | benign | 16 | 77322325 | 77322325 | Human | | name |
| 127305224 | CV1157856 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1710+20G>C | not provided [RCV001516201] | benign | 16 | 77341684 | 77341684 | Human | | name |
| 127299370 | CV1157858 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1615-20C>T | not provided [RCV001513656] | benign | 16 | 77341819 | 77341819 | Human | | name |
| 127293626 | CV1157862 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1217-10C>G | not provided [RCV001511409] | benign | 16 | 77359433 | 77359433 | Human | | name |
| 152108470 | CV1520037 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1860-16T>C | not provided [RCV002134174] | likely benign | 16 | 77326054 | 77326054 | Human | | name |
| 152051916 | CV1521623 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1323-17T>C | not provided [RCV002145792] | likely benign | 16 | 77356094 | 77356094 | Human | | name |
| 152160526 | CV1522879 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1057-16T>C | not provided [RCV002140842] | likely benign | 16 | 77362280 | 77362280 | Human | | name |
| 152168184 | CV1524776 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1460+17C>A | not provided [RCV002182355] | likely benign | 16 | 77355923 | 77355923 | Human | | name |
| 152091114 | CV1525822 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2032+15A>G | not provided [RCV002150600] | likely benign | 16 | 77325851 | 77325851 | Human | | name |
| 152141897 | CV1533026 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3190-19A>T | not provided [RCV002156882] | likely benign | 16 | 77291497 | 77291497 | Human | | name |
| 152142260 | CV1533121 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3189+19T>C | not provided [RCV002156925] | likely benign | 16 | 77293057 | 77293057 | Human | | name |
| 152077013 | CV1536312 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2287+16G>A | not provided [RCV002148819] | likely benign | 16 | 77321063 | 77321063 | Human | | name |
| 152041473 | CV1537747 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3190-20C>T | not provided [RCV002165747] | likely benign | 16 | 77291498 | 77291498 | Human | | name |
| 152157217 | CV1541727 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3189+14G>A | not provided [RCV002103106] | likely benign | 16 | 77293062 | 77293062 | Human | | name |
| 152169773 | CV1546557 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2164-19T>G | not provided [RCV002142898] | likely benign | 16 | 77321221 | 77321221 | Human | | name |
| 152032336 | CV1548975 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3189+16C>A | not provided [RCV002086557] | likely benign | 16 | 77293060 | 77293060 | Human | | name |
| 152119176 | CV1558397 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3402+14G>A | not provided [RCV002135486] | likely benign | 16 | 77291252 | 77291252 | Human | | name |
| 152163330 | CV1561309 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3007-13T>C | not provided [RCV002104211] | likely benign | 16 | 77293271 | 77293271 | Human | | name |
| 152158814 | CV1564495 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3007-18C>G | not provided [RCV002140566] | likely benign | 16 | 77293276 | 77293276 | Human | | name |
| 152068670 | CV1569815 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3403-19C>G | not provided [RCV002191488] | likely benign | 16 | 77289430 | 77289430 | Human | | name |
| 152098204 | CV1578383 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3190-10T>C | ADAMTS18-related disorder [RCV003960877]|not provided [RCV002151469] | likely benign | 16 | 77291488 | 77291488 | Human | 1 | name , alternate_id |
| 152175854 | CV1580100 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1323-12A>G | not provided [RCV002163991] | likely benign | 16 | 77356089 | 77356089 | Human | | name |
| 152136194 | CV1580224 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1711-11T>G | not provided [RCV002156171] | likely benign | 16 | 77335915 | 77335915 | Human | | name |
| 152130091 | CV1584000 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2288-15C>G | not provided [RCV002199203] | likely benign | 16 | 77320108 | 77320108 | Human | | name |
| 152130202 | CV1584016 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2032+19C>T | not provided [RCV002199215] | likely benign | 16 | 77325847 | 77325847 | Human | | name |
| 152123074 | CV1594136 | deletion | NM_199355.4(ADAMTS18):c.2802-15del | not provided [RCV002175836] | likely benign | 16 | 77295142 | 77295142 | Human | | name |
| 152112441 | CV1604238 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3402+16T>C | not provided [RCV002097036] | likely benign | 16 | 77291250 | 77291250 | Human | | name |
| 152162077 | CV1606262 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1711-14C>T | not provided [RCV002181106] | likely benign | 16 | 77335918 | 77335918 | Human | | name |
| 152063825 | CV1612157 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3190-11T>C | not provided [RCV002128688] | likely benign | 16 | 77291489 | 77291489 | Human | | name |
| 152042149 | CV1618004 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2801+10T>C | not provided [RCV002206488] | likely benign | 16 | 77297279 | 77297279 | Human | | name |
| 152140923 | CV1619628 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3402+13C>T | not provided [RCV002200562] | likely benign | 16 | 77291253 | 77291253 | Human | | name |
| 152069881 | CV1628267 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2163+15C>T | not provided [RCV002169156] | likely benign | 16 | 77322321 | 77322321 | Human | | name |
| 152062466 | CV1629744 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2801+16G>A | not provided [RCV002208859] | likely benign | 16 | 77297273 | 77297273 | Human | | name |
| 152090215 | CV1634131 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2288-11T>G | not provided [RCV002194196] | likely benign | 16 | 77320104 | 77320104 | Human | | name |
| 152122589 | CV1640966 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3550+17C>A | not provided [RCV002098364] | likely benign | 16 | 77289247 | 77289247 | Human | | name |
| 152165070 | CV1648911 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3007-17T>G | not provided [RCV002204163] | likely benign | 16 | 77293275 | 77293275 | Human | | name |
| 152039901 | CV1649089 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3551-18T>A | not provided [RCV002206188] | likely benign | 16 | 77284089 | 77284089 | Human | | name |
| 152157757 | CV1650922 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1056+15T>G | not provided [RCV002140392] | likely benign | 16 | 77363787 | 77363787 | Human | | name |
| 152143178 | CV1651439 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1711-13G>A | not provided [RCV002138434] | likely benign | 16 | 77335917 | 77335917 | Human | | name |
| 152067664 | CV1660138 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2802-17T>A | not provided [RCV002147651] | likely benign | 16 | 77295144 | 77295144 | Human | | name |
| 152163880 | CV1662505 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1710+17T>C | not provided [RCV002141405] | likely benign | 16 | 77341687 | 77341687 | Human | | name |
| 156237527 | CV1952856 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1614+13G>C | not provided [RCV002576107] | likely benign | 16 | 77353720 | 77353720 | Human | | name |
| 156267516 | CV1957039 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3190-14G>A | not provided [RCV002577053] | likely benign | 16 | 77291492 | 77291492 | Human | | name |
| 156268963 | CV1957097 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2532+18A>G | not provided [RCV002577098] | likely benign | 16 | 77319831 | 77319831 | Human | | name |
| 156407297 | CV1960536 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3189+13A>C | not provided [RCV002586185] | likely benign | 16 | 77293063 | 77293063 | Human | | name |
| 156183677 | CV1964383 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3007-18C>T | not provided [RCV002574191] | likely benign | 16 | 77293276 | 77293276 | Human | | name |
| 155917515 | CV1981002 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1614+18T>G | not provided [RCV002614388] | likely benign | 16 | 77353715 | 77353715 | Human | | name |
| 156415014 | CV1983132 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1859+13C>T | not provided [RCV002609471] | likely benign | 16 | 77335743 | 77335743 | Human | | name |
| 155998924 | CV1987058 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1056+13C>T | not provided [RCV002618355] | likely benign | 16 | 77363789 | 77363789 | Human | | name |
| 156323603 | CV1988625 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2801+20C>A | not provided [RCV002649411] | likely benign | 16 | 77297269 | 77297269 | Human | | name |
| 156328778 | CV1990783 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2033-15T>G | not provided [RCV002630808] | likely benign | 16 | 77322481 | 77322481 | Human | | name |
| 156305975 | CV1999838 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1056+10A>C | not provided [RCV002671384] | likely benign | 16 | 77363792 | 77363792 | Human | | name |
| 156299372 | CV2001912 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2801+18G>A | not provided [RCV002671090] | likely benign | 16 | 77297271 | 77297271 | Human | | name |
| 156297018 | CV2005398 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3189+20G>A | not provided [RCV002670992] | likely benign | 16 | 77293056 | 77293056 | Human | | name |
| 156319419 | CV2014368 | deletion | NM_199355.4(ADAMTS18):c.1057-18del | not provided [RCV002672092] | likely benign | 16 | 77362282 | 77362282 | Human | | name |
| 156353080 | CV2015593 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2033-14C>G | not provided [RCV002720330] | likely benign | 16 | 77322480 | 77322480 | Human | | name |
| 156365892 | CV2020888 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2164-12T>C | not provided [RCV002721180] | likely benign | 16 | 77321214 | 77321214 | Human | | name |
| 155946924 | CV2028993 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2675-15C>T | not provided [RCV002730458] | likely benign | 16 | 77297430 | 77297430 | Human | | name |
| 156213719 | CV2037092 | duplication | NM_199355.4(ADAMTS18):c.1615-17dup | not provided [RCV002790348] | benign | 16 | 77341815 | 77341816 | Human | | name |
| 156174603 | CV2051885 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2533-11A>T | not provided [RCV002828100] | likely benign | 16 | 77300415 | 77300415 | Human | | name |
| 156347292 | CV2051975 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1860-15T>C | not provided [RCV002811533] | likely benign | 16 | 77326053 | 77326053 | Human | | name |
| 156184029 | CV2055546 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2032+20A>G | not provided [RCV002828397] | likely benign | 16 | 77325846 | 77325846 | Human | | name |
| 155975705 | CV2062741 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1710+11T>A | not provided [RCV002842276] | likely benign | 16 | 77341693 | 77341693 | Human | | name |
| 156045327 | CV2093258 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2532+14G>T | not provided [RCV002867596] | likely benign | 16 | 77319835 | 77319835 | Human | | name |
| 156157119 | CV2096694 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3006+15C>T | not provided [RCV002872522] | likely benign | 16 | 77294908 | 77294908 | Human | | name |
| 156001966 | CV2103386 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2287+18T>C | not provided [RCV002908677] | likely benign | 16 | 77321061 | 77321061 | Human | | name |
| 156073399 | CV2163787 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3007-16T>G | not provided [RCV003020108] | likely benign | 16 | 77293274 | 77293274 | Human | | name |
| 156287730 | CV2192137 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1615-19C>T | not provided [RCV003045011] | likely benign | 16 | 77341818 | 77341818 | Human | | name |
| 405043680 | CV2859696 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1859+19G>A | not provided [RCV003579301] | likely benign | 16 | 77335737 | 77335737 | Human | | name |
| 405207358 | CV2874148 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2033-14C>A | not provided [RCV003552113] | likely benign | 16 | 77322480 | 77322480 | Human | | name |
| 405224232 | CV2979214 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1216+17T>C | not provided [RCV003681154] | likely benign | 16 | 77362088 | 77362088 | Human | | name |
| 402506067 | CV3039091 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3403-13C>G | not provided [RCV003715211] | likely benign | 16 | 77289424 | 77289424 | Human | | name |
| 405062279 | CV3129557 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1615-16T>C | not provided [RCV003832826] | likely benign | 16 | 77341815 | 77341815 | Human | | name |
| 405131634 | CV3133477 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3190-19A>C | not provided [RCV003838447] | likely benign | 16 | 77291497 | 77291497 | Human | | name |
| 405062911 | CV3139602 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2533-16A>G | not provided [RCV003832949] | likely benign | 16 | 77300420 | 77300420 | Human | | name |
| 405164935 | CV3153198 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3550+14A>G | not provided [RCV003840933] | likely benign | 16 | 77289250 | 77289250 | Human | | name |
| 405160937 | CV3159899 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1860-18C>G | not provided [RCV003856970] | likely benign | 16 | 77326056 | 77326056 | Human | | name |
| 405080749 | CV3166798 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2288-20G>A | not provided [RCV003851572] | likely benign | 16 | 77320113 | 77320113 | Human | | name |
| 597883539 | CV3741301 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3551-17A>G | not provided [RCV005070208] | likely benign | 16 | 77284088 | 77284088 | Human | | name |
| 597853878 | CV3747552 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1216+10G>A | not provided [RCV005066563] | likely benign | 16 | 77362095 | 77362095 | Human | | name |
| 597939678 | CV3756855 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3007-14T>C | not provided [RCV005077236] | likely benign | 16 | 77293272 | 77293272 | Human | | name |
| 597902970 | CV3804473 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2532+20T>G | not provided [RCV005152908] | likely benign | 16 | 77319829 | 77319829 | Human | | name |
| 597938097 | CV3808174 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3006+19G>A | not provided [RCV005158362] | likely benign | 16 | 77294904 | 77294904 | Human | | name |
| 597893319 | CV3809902 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1860-16T>G | not provided [RCV005151623] | likely benign | 16 | 77326054 | 77326054 | Human | | name |
| 597863871 | CV3823066 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1614+20C>T | not provided [RCV005175416] | likely benign | 16 | 77353713 | 77353713 | Human | | name |
| 597910477 | CV3830047 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2801+11T>G | not provided [RCV005182616] | likely benign | 16 | 77297278 | 77297278 | Human | | name |
| 597914555 | CV3833945 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1710+13C>A | not provided [RCV005183304] | likely benign | 16 | 77341691 | 77341691 | Human | | name |
| 597883763 | CV3834816 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1461-17A>C | not provided [RCV005178539] | likely benign | 16 | 77353903 | 77353903 | Human | | name |
| 8585142 | CV119723 | single nucleotide variant | NM_199355.2(ADAMTS18):c.2674+691T>C | Lung cancer [RCV000100243] | uncertain significance | 16 | 77299572 | 77299572 | Human | | name |
| 597897757 | CV3782435 | single nucleotide variant | NM_199355.4(ADAMTS18):c.9C>T (p.Cys3=) | not provided [RCV005126660] | likely benign | 16 | 77434687 | 77434687 | Human | | name |
| 156242435 | CV1973269 | single nucleotide variant | NM_199355.4(ADAMTS18):c.24G>T (p.Ala8=) | not provided [RCV002597191] | likely benign | 16 | 77434672 | 77434672 | Human | | name |
| 127267985 | CV1104249 | single nucleotide variant | NM_199355.4(ADAMTS18):c.42G>C (p.Ala14=) | not provided [RCV001429838] | likely benign | 16 | 77434654 | 77434654 | Human | | name |
| 127304966 | CV1125661 | single nucleotide variant | NM_199355.4(ADAMTS18):c.69G>A (p.Ala23=) | ADAMTS18-related disorder [RCV003955994]|not provided [RCV001455121] | likely benign | 16 | 77434627 | 77434627 | Human | 1 | name , alternate_id |
| 127291845 | CV1157870 | single nucleotide variant | NM_199355.4(ADAMTS18):c.96C>T (p.Leu32=) | not provided [RCV001510576] | benign | 16 | 77434500 | 77434500 | Human | | name |
| 152118535 | CV1600541 | single nucleotide variant | NM_199355.4(ADAMTS18):c.73C>T (p.Leu25=) | not provided [RCV002153957] | likely benign | 16 | 77434623 | 77434623 | Human | | name |
| 156277666 | CV2011329 | single nucleotide variant | NM_199355.4(ADAMTS18):c.33C>T (p.Phe11=) | not provided [RCV002715191] | likely benign | 16 | 77434663 | 77434663 | Human | | name |
| 402485723 | CV2931652 | single nucleotide variant | NM_199355.4(ADAMTS18):c.93G>A (p.Ala31=) | not provided [RCV003572508] | likely benign | 16 | 77434503 | 77434503 | Human | | name |
| 405146003 | CV3151997 | deletion | NM_199355.4(ADAMTS18):c.972+18_972+22del | not provided [RCV003855968] | likely benign | 16 | 77364166 | 77364170 | Human | | name |
| 597941229 | CV3757360 | single nucleotide variant | NM_199355.4(ADAMTS18):c.57G>C (p.Pro19=) | not provided [RCV005077546] | likely benign | 16 | 77434639 | 77434639 | Human | | name |
| 597969240 | CV3791286 | single nucleotide variant | NM_199355.4(ADAMTS18):c.93G>C (p.Ala31=) | not provided [RCV005141318] | likely benign | 16 | 77434503 | 77434503 | Human | | name |
| 38474039 | CV927953 | single nucleotide variant | NM_199355.4(ADAMTS18):c.8G>A (p.Cys3Tyr) | not provided [RCV001214572] | uncertain significance | 16 | 77434688 | 77434688 | Human | | name |
| 126725369 | CV1032903 | single nucleotide variant | NM_199355.4(ADAMTS18):c.23C>T (p.Ala8Val) | not provided [RCV001348129] | uncertain significance | 16 | 77434673 | 77434673 | Human | | name |
| 127233091 | CV1082443 | single nucleotide variant | NM_199355.4(ADAMTS18):c.234C>T (p.His78=) | not provided [RCV001395990] | likely benign | 16 | 77431556 | 77431556 | Human | | name |
| 127254441 | CV1104248 | single nucleotide variant | NM_199355.4(ADAMTS18):c.147C>T (p.Asp49=) | not provided [RCV001426302] | likely benign | 16 | 77434449 | 77434449 | Human | | name |
| 127332071 | CV1125659 | single nucleotide variant | NM_199355.4(ADAMTS18):c.228T>C (p.Ile76=) | not provided [RCV001471978] | likely benign | 16 | 77431562 | 77431562 | Human | | name |
| 127333020 | CV1125660 | single nucleotide variant | NM_199355.4(ADAMTS18):c.135C>G (p.Ala45=) | not provided [RCV001472628] | likely benign | 16 | 77434461 | 77434461 | Human | | name |
| 127307340 | CV1157869 | single nucleotide variant | NM_199355.4(ADAMTS18):c.270G>A (p.Ala90=) | not provided [RCV001517063] | benign | 16 | 77431520 | 77431520 | Human | | name |
| 152133686 | CV1545082 | single nucleotide variant | NM_199355.4(ADAMTS18):c.252C>T (p.Gly84=) | not provided [RCV002177141] | likely benign | 16 | 77431538 | 77431538 | Human | | name |
| 152104193 | CV1570082 | single nucleotide variant | NM_199355.4(ADAMTS18):c.249C>T (p.Asn83=) | not provided [RCV002195936] | likely benign | 16 | 77431541 | 77431541 | Human | | name |
| 152040588 | CV1577613 | single nucleotide variant | NM_199355.4(ADAMTS18):c.195G>A (p.Thr65=) | not provided [RCV002107681] | likely benign | 16 | 77431595 | 77431595 | Human | | name |
| 152136713 | CV1580302 | single nucleotide variant | NM_199355.4(ADAMTS18):c.123G>A (p.Ser41=) | not provided [RCV002156232] | likely benign | 16 | 77434473 | 77434473 | Human | | name |
| 152107443 | CV1581903 | single nucleotide variant | NM_199355.4(ADAMTS18):c.294C>T (p.His98=) | not provided [RCV002079797] | likely benign | 16 | 77431496 | 77431496 | Human | | name |
| 152059417 | CV1595970 | single nucleotide variant | NM_199355.4(ADAMTS18):c.216C>T (p.Ala72=) | not provided [RCV002090072] | likely benign | 16 | 77431574 | 77431574 | Human | | name |
| 152089777 | CV1634063 | single nucleotide variant | NM_199355.4(ADAMTS18):c.114C>T (p.Cys38=) | not provided [RCV002194147] | likely benign | 16 | 77434482 | 77434482 | Human | | name |
| 152054702 | CV1637096 | single nucleotide variant | NM_199355.4(ADAMTS18):c.207A>G (p.Val69=) | not provided [RCV002207936] | likely benign | 16 | 77431583 | 77431583 | Human | | name |
| 155901686 | CV1999106 | single nucleotide variant | NM_199355.4(ADAMTS18):c.195G>C (p.Thr65=) | not provided [RCV002681140] | likely benign | 16 | 77431595 | 77431595 | Human | | name |
| 156365504 | CV2010700 | single nucleotide variant | NM_199355.4(ADAMTS18):c.291G>C (p.Leu97=) | not provided [RCV002676533] | likely benign | 16 | 77431499 | 77431499 | Human | | name |
| 156002451 | CV2014819 | single nucleotide variant | NM_199355.4(ADAMTS18):c.129C>T (p.Ala43=) | not provided [RCV002690120] | likely benign | 16 | 77434467 | 77434467 | Human | | name |
| 156088744 | CV2017376 | single nucleotide variant | NM_199355.4(ADAMTS18):c.210C>T (p.Asp70=) | not provided [RCV002694865] | likely benign | 16 | 77431580 | 77431580 | Human | | name |
| 405147539 | CV2960005 | single nucleotide variant | NM_199355.4(ADAMTS18):c.102G>A (p.Leu34=) | not provided [RCV003669754] | likely benign | 16 | 77434494 | 77434494 | Human | | name |
| 405124300 | CV3021005 | single nucleotide variant | NM_199355.4(ADAMTS18):c.264A>G (p.Arg88=) | not provided [RCV003700980] | likely benign | 16 | 77431526 | 77431526 | Human | | name |
| 405292476 | CV3196383 | single nucleotide variant | NM_199355.4(ADAMTS18):c.195G>T (p.Thr65=) | ADAMTS18-related disorder [RCV003964527]|not provided [RCV005064904] | likely benign | 16 | 77431595 | 77431595 | Human | 1 | name , alternate_id |
| 405294667 | CV3204361 | single nucleotide variant | NM_199355.4(ADAMTS18):c.159C>T (p.Gly53=) | ADAMTS18-related disorder [RCV003934584] | likely benign | 16 | 77434437 | 77434437 | Human | | name , trait , alternate_id |
| 405657176 | CV3305522 | single nucleotide variant | NM_199355.4(ADAMTS18):c.22G>T (p.Ala8Ser) | Inborn genetic diseases [RCV004437803] | uncertain significance | 16 | 77434674 | 77434674 | Human | 1 | name |
| 597963628 | CV3754185 | single nucleotide variant | NM_199355.4(ADAMTS18):c.267G>A (p.Ser89=) | not provided [RCV005082292] | likely benign | 16 | 77431523 | 77431523 | Human | | name |
| 597926372 | CV3783298 | single nucleotide variant | NM_199355.4(ADAMTS18):c.237C>T (p.Asp79=) | not provided [RCV005115984] | likely benign | 16 | 77431553 | 77431553 | Human | | name |
| 15179324 | CV740364 | single nucleotide variant | NM_199355.4(ADAMTS18):c.216C>G (p.Ala72=) | not provided [RCV000907082] | benign | 16 | 77431574 | 77431574 | Human | | name |
| 15099964 | CV771069 | single nucleotide variant | NM_199355.4(ADAMTS18):c.225T>C (p.Tyr75=) | not provided [RCV000936563] | likely benign | 16 | 77431565 | 77431565 | Human | | name |
| 126726172 | CV1032902 | single nucleotide variant | NM_199355.4(ADAMTS18):c.92C>T (p.Ala31Val) | not provided [RCV001348376] | uncertain significance | 16 | 77434504 | 77434504 | Human | | name |
| 126916922 | CV1049886 | single nucleotide variant | NM_199355.4(ADAMTS18):c.68C>T (p.Ala23Val) | not provided [RCV001371778] | uncertain significance | 16 | 77434628 | 77434628 | Human | | name |
| 127238391 | CV1082437 | single nucleotide variant | NM_199355.4(ADAMTS18):c.894C>T (p.Leu298=) | ADAMTS18-related disorder [RCV003920866]|not provided [RCV001392465] | likely benign | 16 | 77364266 | 77364266 | Human | 1 | name , alternate_id |
| 127240338 | CV1082438 | single nucleotide variant | NM_199355.4(ADAMTS18):c.873G>A (p.Lys291=) | not provided [RCV001415539] | likely benign | 16 | 77364287 | 77364287 | Human | | name |
| 127230961 | CV1082439 | single nucleotide variant | NM_199355.4(ADAMTS18):c.702T>C (p.His234=) | not provided [RCV001412822] | likely benign | 16 | 77367517 | 77367517 | Human | | name |
| 127256923 | CV1082440 | single nucleotide variant | NM_199355.4(ADAMTS18):c.639G>A (p.Arg213=) | not provided [RCV001401338] | likely benign | 16 | 77367580 | 77367580 | Human | | name |
| 127249316 | CV1082441 | single nucleotide variant | NM_199355.4(ADAMTS18):c.633C>A (p.Ile211=) | not provided [RCV001399574] | likely benign | 16 | 77367586 | 77367586 | Human | | name |
| 127238931 | CV1082442 | single nucleotide variant | NM_199355.4(ADAMTS18):c.348G>A (p.Ala116=) | not provided [RCV001397416] | likely benign | 16 | 77431442 | 77431442 | Human | | name |
| 127284495 | CV1104239 | single nucleotide variant | NM_199355.4(ADAMTS18):c.996G>T (p.Gly332=) | not provided [RCV001449512] | likely benign | 16 | 77363862 | 77363862 | Human | | name |
| 127251527 | CV1104240 | single nucleotide variant | NM_199355.4(ADAMTS18):c.982C>T (p.Leu328=) | not provided [RCV001436577] | likely benign | 16 | 77363876 | 77363876 | Human | | name |
| 127259866 | CV1104241 | single nucleotide variant | NM_199355.4(ADAMTS18):c.715C>A (p.Arg239=) | not provided [RCV001427681] | likely benign | 16 | 77367504 | 77367504 | Human | | name |
| 127270103 | CV1104244 | single nucleotide variant | NM_199355.4(ADAMTS18):c.585G>A (p.Ala195=) | not provided [RCV001441324] | likely benign | 16 | 77367634 | 77367634 | Human | | name |
| 127261303 | CV1104245 | single nucleotide variant | NM_199355.4(ADAMTS18):c.516A>G (p.Arg172=) | not provided [RCV001438755] | likely benign | 16 | 77367703 | 77367703 | Human | | name |
| 127249338 | CV1104246 | single nucleotide variant | NM_199355.4(ADAMTS18):c.390T>C (p.Asp130=) | not provided [RCV001436070] | likely benign | 16 | 77431400 | 77431400 | Human | | name |
| 127330565 | CV1125650 | single nucleotide variant | NM_199355.4(ADAMTS18):c.993T>C (p.Asp331=) | not provided [RCV001470932] | likely benign | 16 | 77363865 | 77363865 | Human | | name |
| 127313708 | CV1125652 | single nucleotide variant | NM_199355.4(ADAMTS18):c.942C>A (p.Val314=) | not provided [RCV001464737] | likely benign | 16 | 77364218 | 77364218 | Human | | name |
| 127325613 | CV1125653 | single nucleotide variant | NM_199355.4(ADAMTS18):c.813A>C (p.Leu271=) | not provided [RCV001468559] | likely benign | 16 | 77364347 | 77364347 | Human | | name |
| 127302112 | CV1125655 | single nucleotide variant | NM_199355.4(ADAMTS18):c.693C>T (p.His231=) | not provided [RCV001461547] | likely benign | 16 | 77367526 | 77367526 | Human | | name |
| 127300939 | CV1125656 | single nucleotide variant | NM_199355.4(ADAMTS18):c.657C>G (p.Gly219=) | not provided [RCV001454016] | likely benign | 16 | 77367562 | 77367562 | Human | | name |
| 127295980 | CV1125657 | single nucleotide variant | NM_199355.4(ADAMTS18):c.654C>T (p.Pro218=) | ADAMTS18-related disorder [RCV003946183]|not provided [RCV001452651] | likely benign | 16 | 77367565 | 77367565 | Human | 1 | name , alternate_id |
| 127326115 | CV1125658 | single nucleotide variant | NM_199355.4(ADAMTS18):c.381T>A (p.Leu127=) | not provided [RCV001468672] | likely benign | 16 | 77431409 | 77431409 | Human | | name |
| 127303825 | CV1146542 | single nucleotide variant | NM_199355.4(ADAMTS18):c.654C>A (p.Pro218=) | not provided [RCV001479330] | likely benign | 16 | 77367565 | 77367565 | Human | | name |
| 127317157 | CV1146543 | single nucleotide variant | NM_199355.4(ADAMTS18):c.423G>A (p.Gln141=) | not provided [RCV001483079] | likely benign | 16 | 77431367 | 77431367 | Human | | name |
| 127301178 | CV1157864 | single nucleotide variant | NM_199355.4(ADAMTS18):c.957C>G (p.Leu319=) | not provided [RCV001514531] | benign | 16 | 77364203 | 77364203 | Human | | name |
| 127313120 | CV1157865 | single nucleotide variant | NM_199355.4(ADAMTS18):c.600C>T (p.His200=) | not provided [RCV001519163] | benign | 16 | 77367619 | 77367619 | Human | | name |
| 127316449 | CV1157866 | single nucleotide variant | NM_199355.4(ADAMTS18):c.573C>T (p.Tyr191=) | not provided [RCV001520495] | benign | 16 | 77367646 | 77367646 | Human | | name |
| 127308344 | CV1157868 | single nucleotide variant | NM_199355.4(ADAMTS18):c.471C>T (p.Val157=) | not provided [RCV001517471] | benign | 16 | 77431319 | 77431319 | Human | | name |
| 151770745 | CV1340076 | single nucleotide variant | NM_199355.4(ADAMTS18):c.68C>A (p.Ala23Glu) | not provided [RCV001874422] | uncertain significance | 16 | 77434628 | 77434628 | Human | | name |
| 151877735 | CV1342335 | single nucleotide variant | NM_199355.4(ADAMTS18):c.41C>T (p.Ala14Val) | not provided [RCV001961251] | uncertain significance | 16 | 77434655 | 77434655 | Human | | name |
| 151808055 | CV1407000 | single nucleotide variant | NM_199355.4(ADAMTS18):c.49G>A (p.Gly17Ser) | not provided [RCV002048590] | uncertain significance | 16 | 77434647 | 77434647 | Human | | name |
| 151752069 | CV1412406 | single nucleotide variant | NM_199355.4(ADAMTS18):c.37G>A (p.Ala13Thr) | not provided [RCV001927618] | uncertain significance | 16 | 77434659 | 77434659 | Human | | name |
| 151842179 | CV1433118 | single nucleotide variant | NM_199355.4(ADAMTS18):c.70G>A (p.Gly24Arg) | not provided [RCV001994889] | uncertain significance | 16 | 77434626 | 77434626 | Human | | name |
| 151713844 | CV1473213 | single nucleotide variant | NM_199355.4(ADAMTS18):c.43G>T (p.Gly15Cys) | not provided [RCV001889929] | uncertain significance | 16 | 77434653 | 77434653 | Human | | name |
| 151871050 | CV1488703 | single nucleotide variant | NM_199355.4(ADAMTS18):c.29C>T (p.Ala10Val) | not provided [RCV002035671] | uncertain significance | 16 | 77434667 | 77434667 | Human | | name |
| 151722822 | CV1500122 | single nucleotide variant | NM_199355.4(ADAMTS18):c.34C>T (p.Pro12Ser) | not provided [RCV001909974] | uncertain significance | 16 | 77434662 | 77434662 | Human | | name |
| 151770572 | CV1504340 | single nucleotide variant | NM_199355.4(ADAMTS18):c.35C>T (p.Pro12Leu) | not provided [RCV002045204] | uncertain significance | 16 | 77434661 | 77434661 | Human | | name |
| 152037292 | CV1524873 | single nucleotide variant | NM_199355.4(ADAMTS18):c.345G>A (p.Ser115=) | not provided [RCV002165162] | likely benign | 16 | 77431445 | 77431445 | Human | | name |
| 152117458 | CV1566636 | single nucleotide variant | NM_199355.4(ADAMTS18):c.372C>T (p.Val124=) | not provided [RCV002153833] | likely benign | 16 | 77431418 | 77431418 | Human | | name |
| 152167000 | CV1577336 | single nucleotide variant | NM_199355.4(ADAMTS18):c.996G>C (p.Gly332=) | not provided [RCV002204597] | likely benign | 16 | 77363862 | 77363862 | Human | | name |
| 152066832 | CV1579008 | single nucleotide variant | NM_199355.4(ADAMTS18):c.516A>T (p.Arg172=) | not provided [RCV002074564] | likely benign | 16 | 77367703 | 77367703 | Human | | name |
| 152159581 | CV1589820 | single nucleotide variant | NM_199355.4(ADAMTS18):c.984A>G (p.Leu328=) | not provided [RCV002203200] | likely benign | 16 | 77363874 | 77363874 | Human | | name |
| 152039537 | CV1592771 | single nucleotide variant | NM_199355.4(ADAMTS18):c.465C>T (p.Ser155=) | not provided [RCV002188048] | likely benign | 16 | 77431325 | 77431325 | Human | | name |
| 152084387 | CV1617036 | single nucleotide variant | NM_199355.4(ADAMTS18):c.387A>G (p.Lys129=) | not provided [RCV002076793] | likely benign | 16 | 77431403 | 77431403 | Human | | name |
| 152053093 | CV1619263 | single nucleotide variant | NM_199355.4(ADAMTS18):c.742T>C (p.Leu248=) | not provided [RCV002167115] | likely benign | 16 | 77367477 | 77367477 | Human | | name |
| 152158643 | CV1630797 | single nucleotide variant | NM_199355.4(ADAMTS18):c.834C>T (p.Ser278=) | not provided [RCV002122805] | benign | 16 | 77364326 | 77364326 | Human | | name |
| 152071626 | CV1633805 | single nucleotide variant | NM_199355.4(ADAMTS18):c.591C>T (p.His197=) | not provided [RCV002191857] | likely benign | 16 | 77367628 | 77367628 | Human | | name |
| 152034861 | CV1635044 | single nucleotide variant | NM_199355.4(ADAMTS18):c.765A>G (p.Gly255=) | not provided [RCV002087044] | likely benign | 16 | 77367454 | 77367454 | Human | | name |
| 152094730 | CV1661512 | single nucleotide variant | NM_199355.4(ADAMTS18):c.339G>A (p.Lys113=) | not provided [RCV002172297] | likely benign | 16 | 77431451 | 77431451 | Human | | name |
| 156148947 | CV1878835 | single nucleotide variant | NM_199355.4(ADAMTS18):c.40G>A (p.Ala14Thr) | not provided [RCV003056463] | uncertain significance | 16 | 77434656 | 77434656 | Human | | name |
| 156226495 | CV1896405 | single nucleotide variant | NM_199355.4(ADAMTS18):c.52C>G (p.Pro18Ala) | not provided [RCV003085195] | uncertain significance | 16 | 77434644 | 77434644 | Human | | name |
| 156120332 | CV1969144 | single nucleotide variant | NM_199355.4(ADAMTS18):c.570C>T (p.Asn190=) | not provided [RCV002593103] | likely benign | 16 | 77367649 | 77367649 | Human | | name |
| 156241180 | CV1973213 | single nucleotide variant | NM_199355.4(ADAMTS18):c.516A>C (p.Arg172=) | not provided [RCV002597151] | likely benign | 16 | 77367703 | 77367703 | Human | | name |
| 156419523 | CV1977320 | single nucleotide variant | NM_199355.4(ADAMTS18):c.537G>A (p.Ser179=) | not provided [RCV002612760] | likely benign | 16 | 77367682 | 77367682 | Human | | name |
| 155911068 | CV1980164 | single nucleotide variant | NM_199355.4(ADAMTS18):c.714T>C (p.Ser238=) | not provided [RCV002613994] | likely benign | 16 | 77367505 | 77367505 | Human | | name |
| 156399276 | CV1984843 | single nucleotide variant | NM_199355.4(ADAMTS18):c.726G>A (p.Glu242=) | not provided [RCV002605445] | likely benign | 16 | 77367493 | 77367493 | Human | | name |
| 155973574 | CV2021846 | single nucleotide variant | NM_199355.4(ADAMTS18):c.684C>A (p.Ser228=) | not provided [RCV002755004] | likely benign | 16 | 77367535 | 77367535 | Human | | name |
| 156376836 | CV2024803 | single nucleotide variant | NM_199355.4(ADAMTS18):c.514C>A (p.Arg172=) | not provided [RCV002721994] | likely benign | 16 | 77367705 | 77367705 | Human | | name |
| 155950469 | CV2026183 | single nucleotide variant | NM_199355.4(ADAMTS18):c.441A>G (p.Gly147=) | not provided [RCV002730655] | likely benign | 16 | 77431349 | 77431349 | Human | | name |
| 155956425 | CV2033440 | single nucleotide variant | NM_199355.4(ADAMTS18):c.576C>T (p.Ser192=) | not provided [RCV002730951] | likely benign | 16 | 77367643 | 77367643 | Human | | name |
| 156004233 | CV2057644 | single nucleotide variant | NM_199355.4(ADAMTS18):c.477G>A (p.Val159=) | not provided [RCV002819799] | likely benign | 16 | 77431313 | 77431313 | Human | | name |
| 155951094 | CV2084515 | single nucleotide variant | NM_199355.4(ADAMTS18):c.553C>T (p.Leu185=) | not provided [RCV002880505] | likely benign | 16 | 77367666 | 77367666 | Human | | name |
| 156111782 | CV2117327 | single nucleotide variant | NM_199355.4(ADAMTS18):c.309A>G (p.Ala103=) | not provided [RCV002953145] | likely benign | 16 | 77431481 | 77431481 | Human | | name |
| 155918985 | CV2152686 | single nucleotide variant | NM_199355.4(ADAMTS18):c.399A>T (p.Ser133=) | not provided [RCV002991805] | likely benign | 16 | 77431391 | 77431391 | Human | | name |
| 156355274 | CV2188723 | single nucleotide variant | NM_199355.4(ADAMTS18):c.68C>G (p.Ala23Gly) | not provided [RCV003048640] | uncertain significance | 16 | 77434628 | 77434628 | Human | | name |
| 156355672 | CV2188789 | single nucleotide variant | NM_199355.4(ADAMTS18):c.300A>G (p.Arg100=) | not provided [RCV003048666] | likely benign | 16 | 77431490 | 77431490 | Human | | name |
| 405061999 | CV2926419 | single nucleotide variant | NM_199355.4(ADAMTS18):c.963A>T (p.Val321=) | not provided [RCV003580542] | likely benign | 16 | 77364197 | 77364197 | Human | | name |
| 405220144 | CV2969619 | single nucleotide variant | NM_199355.4(ADAMTS18):c.948A>G (p.Thr316=) | not provided [RCV003680556] | likely benign | 16 | 77364212 | 77364212 | Human | | name |
| 405213243 | CV2971256 | single nucleotide variant | NM_199355.4(ADAMTS18):c.807C>G (p.Thr269=) | not provided [RCV003679684] | likely benign | 16 | 77364353 | 77364353 | Human | | name |
| 405077025 | CV3008066 | deletion | NM_199355.4(ADAMTS18):c.3402+20_3402+41del | not provided [RCV003716820] | likely benign | 16 | 77291225 | 77291246 | Human | | name |
| 402500699 | CV3035346 | single nucleotide variant | NM_199355.4(ADAMTS18):c.540A>G (p.Pro180=) | not provided [RCV003714706] | likely benign | 16 | 77367679 | 77367679 | Human | | name |
| 405235338 | CV3040859 | single nucleotide variant | NM_199355.4(ADAMTS18):c.561G>A (p.Gln187=) | not provided [RCV003712249] | likely benign | 16 | 77367658 | 77367658 | Human | | name |
| 405149327 | CV3162778 | single nucleotide variant | NM_199355.4(ADAMTS18):c.664C>A (p.Arg222=) | not provided [RCV003856221] | likely benign | 16 | 77367555 | 77367555 | Human | | name |
| 405237993 | CV3166994 | single nucleotide variant | NM_199355.4(ADAMTS18):c.300A>T (p.Arg100=) | not provided [RCV003854249] | likely benign | 16 | 77431490 | 77431490 | Human | | name |
| 405684953 | CV3235620 | single nucleotide variant | NM_199355.4(ADAMTS18):c.34C>A (p.Pro12Thr) | Inborn genetic diseases [RCV004372134] | uncertain significance | 16 | 77434662 | 77434662 | Human | 1 | name |
| 407455483 | CV3422706 | single nucleotide variant | NM_199355.4(ADAMTS18):c.50G>A (p.Gly17Asp) | Inborn genetic diseases [RCV004610334] | uncertain significance | 16 | 77434646 | 77434646 | Human | 1 | name |
| 12850047 | CV364202 | single nucleotide variant | NM_199355.4(ADAMTS18):c.35C>G (p.Pro12Arg) | not provided [RCV000440708] | benign|likely benign | 16 | 77434661 | 77434661 | Human | | name |
| 597655361 | CV3649028 | single nucleotide variant | NM_199355.4(ADAMTS18):c.41C>A (p.Ala14Glu) | Inborn genetic diseases [RCV004976364] | uncertain significance | 16 | 77434655 | 77434655 | Human | 1 | name |
| 597655375 | CV3649042 | single nucleotide variant | NM_199355.4(ADAMTS18):c.43G>C (p.Gly15Arg) | Inborn genetic diseases [RCV004976366] | uncertain significance | 16 | 77434653 | 77434653 | Human | 1 | name |
| 597835050 | CV3739607 | single nucleotide variant | NM_199355.4(ADAMTS18):c.633C>T (p.Ile211=) | not provided [RCV005063826] | likely benign | 16 | 77367586 | 77367586 | Human | | name |
| 597906742 | CV3842895 | single nucleotide variant | NM_199355.4(ADAMTS18):c.786C>G (p.Pro262=) | not provided [RCV005182203] | likely benign | 16 | 77364374 | 77364374 | Human | | name |
| 598178857 | CV3947530 | single nucleotide variant | NM_199355.4(ADAMTS18):c.82G>A (p.Val28Met) | Inborn genetic diseases [RCV005310415] | uncertain significance | 16 | 77434614 | 77434614 | Human | 1 | name |
| 15179939 | CV726799 | single nucleotide variant | NM_199355.4(ADAMTS18):c.483G>A (p.Thr161=) | not provided [RCV000885408] | benign | 16 | 77431307 | 77431307 | Human | | name |
| 15172036 | CV740362 | single nucleotide variant | NM_199355.4(ADAMTS18):c.936A>G (p.Gly312=) | not provided [RCV000905589] | likely benign | 16 | 77364224 | 77364224 | Human | | name |
| 8621909 | CV76948 | single nucleotide variant | NM_199355.4(ADAMTS18):c.97C>T (p.Gln33Ter) | Microcornea-myopic chorioretinal atrophy [RCV000056281] | pathogenic | 16 | 77434499 | 77434499 | Human | 1 | name |
| 26920162 | CV844332 | single nucleotide variant | NM_199355.4(ADAMTS18):c.56C>T (p.Pro19Leu) | Inborn genetic diseases [RCV003363070]|not provided [RCV001047079] | uncertain significance | 16 | 77434640 | 77434640 | Human | 1 | name |
| 26915064 | CV844333 | single nucleotide variant | NM_199355.4(ADAMTS18):c.37G>C (p.Ala13Pro) | Retinal dystrophy [RCV004818202]|not provided [RCV001038489] | conflicting interpretations of pathogenicity|uncertain significance | 16 | 77434659 | 77434659 | Human | 2 | name |
| 38471020 | CV937620 | single nucleotide variant | NM_199355.4(ADAMTS18):c.94C>T (p.Leu32Phe) | not provided [RCV001213686] | uncertain significance | 16 | 77434502 | 77434502 | Human | | name |
| 38464863 | CV937621 | single nucleotide variant | NM_199355.4(ADAMTS18):c.28G>A (p.Ala10Thr) | not provided [RCV001212553] | uncertain significance | 16 | 77434668 | 77434668 | Human | | name |
| 126748688 | CV1012419 | single nucleotide variant | NM_199355.4(ADAMTS18):c.215C>T (p.Ala72Val) | not provided [RCV001326388] | uncertain significance | 16 | 77431575 | 77431575 | Human | | name |
| 126730132 | CV1032898 | single nucleotide variant | NM_199355.4(ADAMTS18):c.234C>A (p.His78Gln) | not provided [RCV001349218] | uncertain significance | 16 | 77431556 | 77431556 | Human | | name |
| 126764634 | CV1032899 | single nucleotide variant | NM_199355.4(ADAMTS18):c.230C>T (p.Ser77Leu) | not provided [RCV001341727] | uncertain significance | 16 | 77431560 | 77431560 | Human | | name |
| 126735150 | CV1032900 | single nucleotide variant | NM_199355.4(ADAMTS18):c.116G>C (p.Cys39Ser) | not provided [RCV001350052] | uncertain significance | 16 | 77434480 | 77434480 | Human | | name |
| 126733325 | CV1032901 | single nucleotide variant | NM_199355.4(ADAMTS18):c.113G>A (p.Cys38Tyr) | not provided [RCV001349761] | uncertain significance | 16 | 77434483 | 77434483 | Human | | name |
| 126922160 | CV1049884 | single nucleotide variant | NM_199355.4(ADAMTS18):c.184G>A (p.Val62Ile) | not provided [RCV001364341] | uncertain significance | 16 | 77431606 | 77431606 | Human | | name |
| 126917900 | CV1049885 | single nucleotide variant | NM_199355.4(ADAMTS18):c.166G>A (p.Gly56Arg) | not provided [RCV001361426] | uncertain significance | 16 | 77434430 | 77434430 | Human | | name |
| 127251869 | CV1063749 | deletion | NM_199355.4(ADAMTS18):c.916del (p.Val306fs) | not provided [RCV001385585] | pathogenic | 16 | 77364244 | 77364244 | Human | | name |
| 127271971 | CV1063751 | duplication | NM_199355.4(ADAMTS18):c.589dup (p.His197fs) | not provided [RCV001390323] | pathogenic | 16 | 77367629 | 77367630 | Human | | name |
| 127279177 | CV1082425 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2448G>A (p.Gly816=) | not provided [RCV001408929] | likely benign | 16 | 77319933 | 77319933 | Human | | name |
| 127234119 | CV1082426 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2367C>T (p.Leu789=) | not provided [RCV001396368] | likely benign | 16 | 77320014 | 77320014 | Human | | name |
| 127247680 | CV1082427 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2262G>A (p.Leu754=) | not provided [RCV001399173] | likely benign | 16 | 77321104 | 77321104 | Human | | name |
| 127238742 | CV1082431 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1602T>C (p.Leu534=) | not provided [RCV001397381] | likely benign | 16 | 77353745 | 77353745 | Human | | name |
| 127252655 | CV1082432 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1500A>G (p.Gln500=) | not provided [RCV001400392] | likely benign | 16 | 77353847 | 77353847 | Human | | name |
| 127254570 | CV1082434 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1473G>A (p.Ala491=) | not provided [RCV001400832] | likely benign | 16 | 77353874 | 77353874 | Human | | name |
| 127280316 | CV1082435 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1437C>T (p.Arg479=) | not provided [RCV001409712] | likely benign | 16 | 77355963 | 77355963 | Human | | name |
| 127266607 | CV1104226 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2793C>T (p.Cys931=) | not provided [RCV001429434] | likely benign | 16 | 77297297 | 77297297 | Human | | name |
| 127276233 | CV1104227 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2781C>T (p.Asn927=) | ADAMTS18-related disorder [RCV003955967]|not provided [RCV001443722] | likely benign | 16 | 77297309 | 77297309 | Human | 1 | name , alternate_id |
| 127283193 | CV1104228 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2241T>G (p.Thr747=) | not provided [RCV001448355] | likely benign | 16 | 77321125 | 77321125 | Human | | name |
| 127253624 | CV1104229 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2094C>T (p.Ser698=) | not provided [RCV001426093] | likely benign | 16 | 77322405 | 77322405 | Human | | name |
| 127242947 | CV1104230 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1767C>T (p.His589=) | not provided [RCV001423845] | likely benign | 16 | 77335848 | 77335848 | Human | | name |
| 127273067 | CV1104231 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1656G>A (p.Arg552=) | not provided [RCV001442410] | likely benign | 16 | 77341758 | 77341758 | Human | | name |
| 127263546 | CV1104232 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1644A>C (p.Arg548=) | not provided [RCV001428588] | likely benign | 16 | 77341770 | 77341770 | Human | | name |
| 127274911 | CV1104233 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1512T>C (p.Tyr504=) | not provided [RCV001432116] | likely benign | 16 | 77353835 | 77353835 | Human | | name |
| 127247265 | CV1104234 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1503A>T (p.Ala501=) | not provided [RCV001435597] | likely benign | 16 | 77353844 | 77353844 | Human | | name |
| 127277756 | CV1104235 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1428C>A (p.Ser476=) | not provided [RCV001444607] | likely benign | 16 | 77355972 | 77355972 | Human | | name |
| 127253260 | CV1104236 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1314A>G (p.Ser438=) | not provided [RCV001436975] | likely benign | 16 | 77359326 | 77359326 | Human | | name |
| 127246380 | CV1104238 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1066T>C (p.Leu356=) | not provided [RCV001424506] | likely benign | 16 | 77362255 | 77362255 | Human | | name |
| 127309019 | CV1125632 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2907A>C (p.Ala969=) | ADAMTS18-related disorder [RCV003965904]|not provided [RCV001456206] | likely benign | 16 | 77295022 | 77295022 | Human | 1 | name , alternate_id |
| 127329422 | CV1125635 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2466G>A (p.Gln822=) | not provided [RCV001470202] | likely benign | 16 | 77319915 | 77319915 | Human | | name |
| 127303975 | CV1125636 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2409C>A (p.Gly803=) | ADAMTS18-related disorder [RCV003955993]|not provided [RCV001454873] | likely benign | 16 | 77319972 | 77319972 | Human | 1 | name , alternate_id |
| 127295274 | CV1125637 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2319C>T (p.Gly773=) | not provided [RCV001452456] | likely benign | 16 | 77320062 | 77320062 | Human | | name |
| 127334472 | CV1125642 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1654A>C (p.Arg552=) | not provided [RCV001473582] | likely benign | 16 | 77341760 | 77341760 | Human | | name |
| 127288452 | CV1125644 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1591T>C (p.Leu531=) | not provided [RCV001450483] | likely benign | 16 | 77353756 | 77353756 | Human | | name |
| 127332753 | CV1125645 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1545T>C (p.Tyr515=) | ADAMTS18-related disorder [RCV003920998]|not provided [RCV001472465] | likely benign | 16 | 77353802 | 77353802 | Human | 1 | name , alternate_id |
| 127313475 | CV1125647 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1443T>C (p.Tyr481=) | not provided [RCV001464688] | likely benign | 16 | 77355957 | 77355957 | Human | | name |
| 127334403 | CV1146527 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2622T>C (p.Pro874=) | not provided [RCV001490799] | likely benign | 16 | 77300315 | 77300315 | Human | | name |
| 127324322 | CV1146528 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2598A>G (p.Gly866=) | not provided [RCV001485456] | likely benign | 16 | 77300339 | 77300339 | Human | | name |
| 127286377 | CV1146531 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2016C>G (p.Pro672=) | not provided [RCV001494131] | likely benign | 16 | 77325882 | 77325882 | Human | | name |
| 127318176 | CV1146532 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1929C>T (p.Cys643=) | not provided [RCV001503581] | likely benign | 16 | 77325969 | 77325969 | Human | | name |
| 127330872 | CV1146533 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1812A>G (p.Thr604=) | not provided [RCV001488423] | likely benign | 16 | 77335803 | 77335803 | Human | | name |
| 127333653 | CV1146534 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1653C>T (p.His551=) | not provided [RCV001490310] | likely benign | 16 | 77341761 | 77341761 | Human | | name |
| 127287933 | CV1146535 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1590G>A (p.Lys530=) | not provided [RCV001495042] | likely benign | 16 | 77353757 | 77353757 | Human | | name |
| 127335061 | CV1146537 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1398C>A (p.Thr466=) | not provided [RCV001491257] | likely benign | 16 | 77356002 | 77356002 | Human | | name |
| 127325972 | CV1146538 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1374C>G (p.Gly458=) | not provided [RCV001506143] | likely benign | 16 | 77356026 | 77356026 | Human | | name |
| 127297143 | CV1146540 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1017C>T (p.Asn339=) | ADAMTS18-related disorder [RCV003931018]|not provided [RCV001497708] | likely benign | 16 | 77363841 | 77363841 | Human | 1 | name , alternate_id |
| 127302341 | CV1157846 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2931G>A (p.Val977=) | not provided [RCV001515018] | benign | 16 | 77294998 | 77294998 | Human | | name |
| 127293392 | CV1157851 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2460A>G (p.Glu820=) | not provided [RCV001511335] | benign | 16 | 77319921 | 77319921 | Human | | name |
| 127313748 | CV1157853 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2298G>A (p.Pro766=) | ADAMTS18-related disorder [RCV003956194]|not provided [RCV001519362] | benign|likely benign | 16 | 77320083 | 77320083 | Human | 1 | name , alternate_id |
| 127318090 | CV1157859 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1464A>C (p.Thr488=) | not provided [RCV001521490] | benign | 16 | 77353883 | 77353883 | Human | | name |
| 127312829 | CV1157860 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1341T>C (p.Asp447=) | not provided [RCV001519075]|not specified [RCV001529250] | likely pathogenic|benign | 16 | 77356059 | 77356059 | Human | | name |
| 151843474 | CV1339282 | single nucleotide variant | NM_199355.4(ADAMTS18):c.109C>T (p.Leu37Phe) | not provided [RCV001977985] | uncertain significance | 16 | 77434487 | 77434487 | Human | | name |
| 151803557 | CV1351829 | single nucleotide variant | NM_199355.4(ADAMTS18):c.217G>A (p.Gly73Arg) | not provided [RCV001974128] | uncertain significance | 16 | 77431573 | 77431573 | Human | | name |
| 151885027 | CV1364231 | single nucleotide variant | NM_199355.4(ADAMTS18):c.230C>G (p.Ser77Ter) | not provided [RCV002037673] | pathogenic | 16 | 77431560 | 77431560 | Human | | name |
| 151877191 | CV1390474 | single nucleotide variant | NM_199355.4(ADAMTS18):c.131C>G (p.Ala44Gly) | not provided [RCV001940545] | uncertain significance | 16 | 77434465 | 77434465 | Human | | name |
| 151882086 | CV1402420 | single nucleotide variant | NM_199355.4(ADAMTS18):c.266C>T (p.Ser89Leu) | Inborn genetic diseases [RCV003355584]|not provided [RCV001961847] | uncertain significance | 16 | 77431524 | 77431524 | Human | 1 | name |
| 151859895 | CV1403794 | single nucleotide variant | NM_199355.4(ADAMTS18):c.165C>A (p.Ser55Arg) | not provided [RCV001979991] | uncertain significance | 16 | 77434431 | 77434431 | Human | | name |
| 151801058 | CV1404065 | single nucleotide variant | NM_199355.4(ADAMTS18):c.221C>T (p.Ser74Leu) | not provided [RCV001973912] | uncertain significance | 16 | 77431569 | 77431569 | Human | | name |
| 151871081 | CV1413562 | single nucleotide variant | NM_199355.4(ADAMTS18):c.118G>C (p.Ala40Pro) | not provided [RCV001998345] | uncertain significance | 16 | 77434478 | 77434478 | Human | | name |
| 151792761 | CV1420372 | single nucleotide variant | NM_199355.4(ADAMTS18):c.274A>G (p.Asn92Asp) | not provided [RCV002027377] | uncertain significance | 16 | 77431516 | 77431516 | Human | | name |
| 151739416 | CV1429141 | single nucleotide variant | NM_199355.4(ADAMTS18):c.293A>G (p.His98Arg) | not provided [RCV002022173] | uncertain significance | 16 | 77431497 | 77431497 | Human | | name |
| 151824376 | CV1506937 | deletion | NM_199355.4(ADAMTS18):c.654del (p.Gly219fs) | not provided [RCV001955077] | pathogenic | 16 | 77367565 | 77367565 | Human | | name |
| 151718109 | CV1513409 | single nucleotide variant | NM_199355.4(ADAMTS18):c.194C>T (p.Thr65Met) | Retinal dystrophy [RCV004815721]|not provided [RCV001890650] | uncertain significance | 16 | 77431596 | 77431596 | Human | 2 | name |
| 152140776 | CV1520391 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1338C>T (p.His446=) | not provided [RCV002178030] | likely benign | 16 | 77356062 | 77356062 | Human | | name |
| 152130599 | CV1523458 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2536C>T (p.Leu846=) | not provided [RCV002136872] | benign | 16 | 77300401 | 77300401 | Human | | name |
| 152103404 | CV1524053 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1218G>T (p.Gly406=) | not provided [RCV002133549] | likely benign | 16 | 77359422 | 77359422 | Human | | name |
| 152141871 | CV1526573 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1650C>T (p.Gly550=) | not provided [RCV002084261] | likely benign | 16 | 77341764 | 77341764 | Human | | name |
| 152037932 | CV1530339 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1476G>T (p.Gly492=) | not provided [RCV002087521] | likely benign | 16 | 77353871 | 77353871 | Human | | name |
| 152097402 | CV1531495 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2856G>A (p.Gln952=) | not provided [RCV002213550] | likely benign | 16 | 77295073 | 77295073 | Human | | name |
| 152090944 | CV1532012 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2730C>G (p.Ser910=) | not provided [RCV002077704] | likely benign | 16 | 77297360 | 77297360 | Human | | name |
| 152170705 | CV1536436 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1050A>G (p.Gln350=) | not provided [RCV002183247] | likely benign | 16 | 77363808 | 77363808 | Human | | name |
| 152026321 | CV1540801 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1033C>T (p.Leu345=) | not provided [RCV002104516] | likely benign | 16 | 77363825 | 77363825 | Human | | name |
| 152176332 | CV1541557 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1203A>G (p.Pro401=) | not provided [RCV002164477] | likely benign | 16 | 77362118 | 77362118 | Human | | name |
| 152098829 | CV1542484 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2946G>A (p.Gln982=) | not provided [RCV002195273] | likely benign | 16 | 77294983 | 77294983 | Human | | name |
| 152101214 | CV1546935 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1206T>C (p.Cys402=) | not provided [RCV002151836] | likely benign | 16 | 77362115 | 77362115 | Human | | name |
| 152108646 | CV1550828 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1809G>T (p.Arg603=) | not provided [RCV002152748] | likely benign | 16 | 77335806 | 77335806 | Human | | name |
| 152111485 | CV1551466 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1866G>A (p.Gln622=) | not provided [RCV002196834] | likely benign | 16 | 77326032 | 77326032 | Human | | name |
| 152124034 | CV1553804 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1782C>T (p.Ala594=) | not provided [RCV002098558] | likely benign | 16 | 77335833 | 77335833 | Human | | name |
| 152082302 | CV1558749 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1308T>C (p.His436=) | not provided [RCV002149472] | likely benign | 16 | 77359332 | 77359332 | Human | | name |
| 152069704 | CV1567026 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2205A>C (p.Ser735=) | not provided [RCV002111281] | likely benign | 16 | 77321161 | 77321161 | Human | | name |
| 152153650 | CV1577987 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1875C>A (p.Gly625=) | not provided [RCV002122104] | likely benign | 16 | 77326023 | 77326023 | Human | | name |
| 152102222 | CV1579004 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2154G>A (p.Gly718=) | not provided [RCV002079142] | likely benign | 16 | 77322345 | 77322345 | Human | | name |
| 152154111 | CV1579420 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1497G>A (p.Lys499=) | not provided [RCV002158616] | likely benign | 16 | 77353850 | 77353850 | Human | | name |
| 152175922 | CV1580185 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2565T>A (p.Ala855=) | not provided [RCV002164060] | likely benign | 16 | 77300372 | 77300372 | Human | | name |
| 152136660 | CV1580294 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2919T>G (p.Ser973=) | ADAMTS18-related disorder [RCV003916343]|not provided [RCV002156226] | likely benign | 16 | 77295010 | 77295010 | Human | 1 | name , alternate_id |
| 152065304 | CV1583399 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2658C>T (p.Ser886=) | not provided [RCV002110701] | likely benign | 16 | 77300279 | 77300279 | Human | | name |
| 152170498 | CV1592457 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1587C>G (p.Ala529=) | not provided [RCV002161794] | likely benign | 16 | 77353760 | 77353760 | Human | | name |
| 152171783 | CV1597792 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1518T>C (p.Tyr506=) | not provided [RCV002162233] | likely benign | 16 | 77353829 | 77353829 | Human | | name |
| 152172410 | CV1599117 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1302C>T (p.Ile434=) | not provided [RCV002143770] | likely benign | 16 | 77359338 | 77359338 | Human | | name |
| 152034958 | CV1604032 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1506A>C (p.Gly502=) | not provided [RCV002087061] | likely benign | 16 | 77353841 | 77353841 | Human | | name |
| 152042721 | CV1619684 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1392A>G (p.Thr464=) | not provided [RCV002188472] | likely benign | 16 | 77356008 | 77356008 | Human | | name |
| 152034206 | CV1634826 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1026G>A (p.Val342=) | not provided [RCV002086931] | likely benign | 16 | 77363832 | 77363832 | Human | | name |
| 152149873 | CV1636016 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2061G>A (p.Lys687=) | not provided [RCV002102068] | likely benign | 16 | 77322438 | 77322438 | Human | | name |
| 152027255 | CV1636140 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1317G>A (p.Gly439=) | not provided [RCV002085073] | likely benign | 16 | 77359323 | 77359323 | Human | | name |
| 152113064 | CV1640753 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2847A>G (p.Gly949=) | not provided [RCV002174576] | likely benign | 16 | 77295082 | 77295082 | Human | | name |
| 152159958 | CV1642314 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2496C>T (p.Tyr832=) | not provided [RCV002103611] | likely benign | 16 | 77319885 | 77319885 | Human | | name |
| 152098165 | CV1650302 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1299C>T (p.Thr433=) | not provided [RCV002114975] | likely benign | 16 | 77359341 | 77359341 | Human | | name |
| 152148633 | CV1650826 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2628T>C (p.Tyr876=) | not provided [RCV002157825] | likely benign | 16 | 77300309 | 77300309 | Human | | name |
| 152142671 | CV1651362 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1521G>A (p.Pro507=) | not provided [RCV002138372] | benign | 16 | 77353826 | 77353826 | Human | | name |
| 152160369 | CV1652045 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2889C>T (p.Pro963=) | ADAMTS18-related disorder [RCV003911243]|not provided [RCV002180827] | likely benign | 16 | 77295040 | 77295040 | Human | 1 | name , alternate_id |
| 152074239 | CV1652654 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2859C>T (p.Ser953=) | not provided [RCV002148488] | likely benign | 16 | 77295070 | 77295070 | Human | | name |
| 152064474 | CV1654264 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2244C>T (p.Cys748=) | not provided [RCV002190958] | likely benign | 16 | 77321122 | 77321122 | Human | | name |
| 152048365 | CV1656868 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2523G>T (p.Leu841=) | not provided [RCV002189091] | likely benign | 16 | 77319858 | 77319858 | Human | | name |
| 152172433 | CV1660281 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1758G>A (p.Arg586=) | not provided [RCV002162454] | likely benign | 16 | 77335857 | 77335857 | Human | | name |
| 152174743 | CV1663420 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1083A>G (p.Ala361=) | not provided [RCV002144538] | likely benign | 16 | 77362238 | 77362238 | Human | | name |
| 152152652 | CV1664528 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2451C>T (p.Thr817=) | not provided [RCV002158421] | likely benign | 16 | 77319930 | 77319930 | Human | | name |
| 152109805 | CV1665124 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2484G>C (p.Pro828=) | not provided [RCV002080092] | likely benign | 16 | 77319897 | 77319897 | Human | | name |
| 152034549 | CV1666095 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1395G>T (p.Leu465=) | not provided [RCV002106766] | likely benign | 16 | 77356005 | 77356005 | Human | | name |
| 156373057 | CV1923791 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1065A>G (p.Leu355=) | not provided [RCV002633577] | likely benign | 16 | 77362256 | 77362256 | Human | | name |
| 156300263 | CV1955525 | single nucleotide variant | NM_199355.4(ADAMTS18):c.125T>G (p.Val42Gly) | not provided [RCV002578197] | uncertain significance | 16 | 77434471 | 77434471 | Human | | name |
| 156226221 | CV1956701 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1071C>A (p.Ile357=) | not provided [RCV002575711] | likely benign | 16 | 77362250 | 77362250 | Human | | name |
| 156225540 | CV1962502 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1731C>T (p.Cys577=) | not provided [RCV002596615] | likely benign | 16 | 77335884 | 77335884 | Human | | name |
| 156406223 | CV1963525 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2595T>C (p.Asn865=) | not provided [RCV002585832] | likely benign | 16 | 77300342 | 77300342 | Human | | name |
| 156269353 | CV1970879 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1788G>A (p.Ser596=) | not provided [RCV002598039] | likely benign | 16 | 77335827 | 77335827 | Human | | name |
| 156197197 | CV1971199 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1560G>A (p.Gln520=) | not provided [RCV002625606] | likely benign | 16 | 77353787 | 77353787 | Human | | name |
| 156057021 | CV1974616 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2346G>A (p.Leu782=) | not provided [RCV002590847] | likely benign | 16 | 77320035 | 77320035 | Human | | name |
| 156077383 | CV1979353 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1779C>T (p.Ser593=) | not provided [RCV002621431] | likely benign | 16 | 77335836 | 77335836 | Human | | name |
| 156217721 | CV1980412 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1293C>T (p.Ala431=) | not provided [RCV002626329] | likely benign | 16 | 77359347 | 77359347 | Human | | name |
| 156327150 | CV1980705 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1554C>T (p.Asp518=) | not provided [RCV002630717] | likely benign | 16 | 77353793 | 77353793 | Human | | name |
| 156212285 | CV1983470 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2784T>C (p.Ala928=) | not provided [RCV002626122] | likely benign | 16 | 77297306 | 77297306 | Human | | name |
| 156013994 | CV1986179 | single nucleotide variant | NM_199355.4(ADAMTS18):c.262C>T (p.Arg88Ter) | not provided [RCV002636370] | pathogenic | 16 | 77431528 | 77431528 | Human | | name |
| 156248627 | CV1989000 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2124C>T (p.Ser708=) | not provided [RCV002627376] | likely benign | 16 | 77322375 | 77322375 | Human | | name |
| 156030605 | CV2001154 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2151C>T (p.Asp717=) | not provided [RCV002658643] | likely benign | 16 | 77322348 | 77322348 | Human | | name |
| 156119097 | CV2004055 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1359C>T (p.Cys453=) | not provided [RCV002662783] | likely benign | 16 | 77356041 | 77356041 | Human | | name |
| 156203511 | CV2011062 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1461C>T (p.Ser487=) | Inborn genetic diseases [RCV004066914]|not provided [RCV002700361] | likely benign|uncertain significance | 16 | 77353886 | 77353886 | Human | 1 | name |
| 156020920 | CV2019349 | single nucleotide variant | NM_199355.4(ADAMTS18):c.277G>A (p.Ala93Thr) | not provided [RCV002690995] | uncertain significance | 16 | 77431513 | 77431513 | Human | | name |
| 156164806 | CV2019653 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2331C>T (p.Ile777=) | not provided [RCV002710304] | likely benign | 16 | 77320050 | 77320050 | Human | | name |
| 156178365 | CV2020371 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2928A>T (p.Pro976=) | not provided [RCV002710700] | likely benign | 16 | 77295001 | 77295001 | Human | | name |
| 156027872 | CV2039698 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2535T>C (p.Ile845=) | not provided [RCV002780983] | likely benign | 16 | 77300402 | 77300402 | Human | | name |
| 156006800 | CV2054362 | single nucleotide variant | NM_199355.4(ADAMTS18):c.184G>C (p.Val62Leu) | not provided [RCV002819917] | uncertain significance | 16 | 77431606 | 77431606 | Human | | name |
| 156315873 | CV2086093 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1245T>C (p.Ser415=) | not provided [RCV002898988] | likely benign | 16 | 77359395 | 77359395 | Human | | name |
| 156099985 | CV2087949 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1962G>A (p.Gln654=) | not provided [RCV002848046] | likely benign | 16 | 77325936 | 77325936 | Human | | name |
| 156313508 | CV2089397 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2724C>G (p.Val908=) | not provided [RCV002898854] | likely benign | 16 | 77297366 | 77297366 | Human | | name |
| 156198724 | CV2113815 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2520G>T (p.Thr840=) | not provided [RCV002957300] | likely benign | 16 | 77319861 | 77319861 | Human | | name |
| 155934529 | CV2114024 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1281A>T (p.Gly427=) | not provided [RCV002904033] | likely benign | 16 | 77359359 | 77359359 | Human | | name |
| 155929195 | CV2145354 | single nucleotide variant | NM_199355.4(ADAMTS18):c.263G>T (p.Arg88Leu) | not provided [RCV003013549] | uncertain significance | 16 | 77431527 | 77431527 | Human | | name |
| 156189482 | CV2148643 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1041T>A (p.Leu347=) | not provided [RCV003005955] | likely benign | 16 | 77363817 | 77363817 | Human | | name |
| 156313610 | CV2161945 | single nucleotide variant | NM_199355.4(ADAMTS18):c.253A>G (p.Arg85Gly) | not provided [RCV003028726] | uncertain significance | 16 | 77431537 | 77431537 | Human | | name |
| 156112879 | CV2171804 | single nucleotide variant | NM_199355.4(ADAMTS18):c.205G>A (p.Val69Ile) | not provided [RCV003039017] | uncertain significance | 16 | 77431585 | 77431585 | Human | | name |
| 156331742 | CV2171859 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2271C>T (p.Asn757=) | not provided [RCV003029808] | uncertain significance | 16 | 77321095 | 77321095 | Human | | name |
| 156244941 | CV2187337 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2493G>T (p.Leu831=) | not provided [RCV003059796] | likely benign | 16 | 77319888 | 77319888 | Human | | name |
| 401885747 | CV2775074 | single nucleotide variant | NM_199355.4(ADAMTS18):c.160G>A (p.Ala54Thr) | Inborn genetic diseases [RCV003366646] | uncertain significance | 16 | 77434436 | 77434436 | Human | 1 | name |
| 402469593 | CV2931073 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1188T>A (p.Ser396=) | not provided [RCV003570165] | likely benign | 16 | 77362133 | 77362133 | Human | | name |
| 405128570 | CV2957291 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2937A>T (p.Thr979=) | not provided [RCV003672199] | likely benign | 16 | 77294992 | 77294992 | Human | | name |
| 405135233 | CV2958019 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1749C>T (p.Leu583=) | not provided [RCV003672758] | likely benign | 16 | 77335866 | 77335866 | Human | | name |
| 405142162 | CV2958771 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1125C>T (p.Leu375=) | not provided [RCV003673327] | likely benign | 16 | 77362196 | 77362196 | Human | | name |
| 405117226 | CV2961699 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1428C>T (p.Ser476=) | not provided [RCV003671034] | likely benign | 16 | 77355972 | 77355972 | Human | | name |
| 405246322 | CV2965625 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1509G>A (p.Gln503=) | not provided [RCV003685307] | likely benign | 16 | 77353838 | 77353838 | Human | | name |
| 405210220 | CV2970523 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2694C>G (p.Ala898=) | not provided [RCV003679276] | likely benign | 16 | 77297396 | 77297396 | Human | | name |
| 405192915 | CV2985681 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1440G>A (p.Gln480=) | not provided [RCV003706634] | likely benign | 16 | 77355960 | 77355960 | Human | | name |
| 402484042 | CV2998202 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2430G>A (p.Gly810=) | not provided [RCV003686889] | likely benign | 16 | 77319951 | 77319951 | Human | | name |
| 405130218 | CV3010961 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1158C>T (p.Ala386=) | not provided [RCV003701631] | likely benign | 16 | 77362163 | 77362163 | Human | | name |
| 405037022 | CV3016878 | deletion | NM_199355.4(ADAMTS18):c.749del (p.Lys250fs) | not provided [RCV003696023] | pathogenic | 16 | 77367470 | 77367470 | Human | | name |
| 405201170 | CV3041351 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2175T>C (p.Cys725=) | not provided [RCV003707456] | likely benign | 16 | 77321191 | 77321191 | Human | | name |
| 405221915 | CV3056852 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2745A>C (p.Ala915=) | not provided [RCV003733438] | likely benign | 16 | 77297345 | 77297345 | Human | | name |
| 405142100 | CV3125955 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2418C>T (p.Ile806=) | ADAMTS18-related disorder [RCV003956581]|not provided [RCV003816871] | likely benign | 16 | 77319963 | 77319963 | Human | 1 | name , alternate_id |
| 405138715 | CV3130739 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1110A>G (p.Gln370=) | not provided [RCV003838973] | likely benign | 16 | 77362211 | 77362211 | Human | | name |
| 405141461 | CV3131246 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2955C>T (p.Ala985=) | not provided [RCV003839286] | likely benign | 16 | 77294974 | 77294974 | Human | | name |
| 405216067 | CV3143345 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1473G>T (p.Ala491=) | not provided [RCV003846509] | likely benign | 16 | 77353874 | 77353874 | Human | | name |
| 405187591 | CV3156534 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2640C>T (p.Ile880=) | not provided [RCV003859412] | likely benign | 16 | 77300297 | 77300297 | Human | | name |
| 405133461 | CV3163896 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2520G>A (p.Thr840=) | not provided [RCV003854884] | likely benign | 16 | 77319861 | 77319861 | Human | | name |
| 405269077 | CV3187206 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1446C>T (p.Leu482=) | not provided [RCV003887290] | likely benign | 16 | 77355954 | 77355954 | Human | | name |
| 405684301 | CV3235517 | single nucleotide variant | NM_199355.4(ADAMTS18):c.238A>G (p.Ile80Val) | Inborn genetic diseases [RCV004372031] | uncertain significance | 16 | 77431552 | 77431552 | Human | 1 | name |
| 597655411 | CV3645252 | single nucleotide variant | NM_199355.4(ADAMTS18):c.131C>A (p.Ala44Glu) | Inborn genetic diseases [RCV004976373] | uncertain significance | 16 | 77434465 | 77434465 | Human | 1 | name |
| 597655393 | CV3649082 | single nucleotide variant | NM_199355.4(ADAMTS18):c.116G>A (p.Cys39Tyr) | Inborn genetic diseases [RCV004976369] | uncertain significance | 16 | 77434480 | 77434480 | Human | 1 | name |
| 597858252 | CV3748247 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2502A>G (p.Pro834=) | not provided [RCV005067069] | likely benign | 16 | 77319879 | 77319879 | Human | | name |
| 597948413 | CV3759159 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2499G>A (p.Ala833=) | not provided [RCV005078956] | likely benign | 16 | 77319882 | 77319882 | Human | | name |
| 597856767 | CV3769399 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2982A>G (p.Gln994=) | not provided [RCV005105440] | likely benign | 16 | 77294947 | 77294947 | Human | | name |
| 597924826 | CV3778076 | deletion | NM_199355.4(ADAMTS18):c.550del (p.Leu184fs) | not provided [RCV005130800] | pathogenic | 16 | 77367669 | 77367669 | Human | | name |
| 597921002 | CV3781340 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2826A>C (p.Thr942=) | not provided [RCV005130222] | likely benign | 16 | 77295103 | 77295103 | Human | | name |
| 597935063 | CV3807204 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2442C>T (p.Phe814=) | not provided [RCV005157775] | likely benign | 16 | 77319939 | 77319939 | Human | | name |
| 597892602 | CV3809812 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2886G>A (p.Lys962=) | not provided [RCV005151533] | likely benign | 16 | 77295043 | 77295043 | Human | | name |
| 597918925 | CV3811601 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2499G>T (p.Ala833=) | not provided [RCV005155432] | likely benign | 16 | 77319882 | 77319882 | Human | | name |
| 597950246 | CV3818947 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2403C>G (p.Thr801=) | not provided [RCV005161017] | likely benign | 16 | 77319978 | 77319978 | Human | | name |
| 597878583 | CV3825948 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2916T>C (p.His972=) | not provided [RCV005177822] | likely benign | 16 | 77295013 | 77295013 | Human | | name |
| 597909073 | CV3829841 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2757A>G (p.Pro919=) | not provided [RCV005182410] | likely benign | 16 | 77297333 | 77297333 | Human | | name |
| 597897758 | CV3854425 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1404C>T (p.Asn468=) | not provided [RCV005201532] | likely benign | 16 | 77355996 | 77355996 | Human | | name |
| 597860827 | CV3860105 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2865G>A (p.Lys955=) | not provided [RCV005195834] | likely benign | 16 | 77295064 | 77295064 | Human | | name |
| 597878632 | CV3860437 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2262G>T (p.Leu754=) | not provided [RCV005198646] | likely benign | 16 | 77321104 | 77321104 | Human | | name |
| 15102456 | CV703829 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2349G>A (p.Gln783=) | not provided [RCV000959293]|not specified [RCV001699480] | benign | 16 | 77320032 | 77320032 | Human | | name |
| 15102462 | CV703830 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2190C>T (p.Gly730=) | not provided [RCV000959294]|not specified [RCV001701262] | benign | 16 | 77321176 | 77321176 | Human | | name |
| 15111905 | CV715085 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1632T>G (p.Leu544=) | not provided [RCV000961196] | benign | 16 | 77341782 | 77341782 | Human | | name |
| 15177537 | CV740355 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2508C>T (p.Pro836=) | not provided [RCV000906674]|not specified [RCV001796312] | benign|likely benign | 16 | 77319873 | 77319873 | Human | | name |
| 15117107 | CV740357 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2439C>G (p.Pro813=) | not provided [RCV000895320] | likely benign | 16 | 77319942 | 77319942 | Human | | name |
| 15161599 | CV740358 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2340G>A (p.Gln780=) | not provided [RCV000903379] | likely benign | 16 | 77320041 | 77320041 | Human | | name |
| 15122110 | CV740360 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1398C>T (p.Thr466=) | not provided [RCV000896185] | likely benign | 16 | 77356002 | 77356002 | Human | | name |
| 15109580 | CV755395 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2484G>A (p.Pro828=) | not provided [RCV000916366] | benign | 16 | 77319897 | 77319897 | Human | | name |
| 15195954 | CV755396 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1677C>T (p.Pro559=) | not provided [RCV000911560] | likely benign | 16 | 77341737 | 77341737 | Human | | name |
| 15115212 | CV785383 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2826A>G (p.Thr942=) | ADAMTS18-related disorder [RCV003906101]|not provided [RCV000978361] | likely benign | 16 | 77295103 | 77295103 | Human | 1 | name , alternate_id |
| 15104378 | CV785384 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2739C>T (p.Cys913=) | not provided [RCV000976209] | likely benign | 16 | 77297351 | 77297351 | Human | | name |
| 15131430 | CV785385 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2367C>G (p.Leu789=) | not provided [RCV000981212] | likely benign | 16 | 77320014 | 77320014 | Human | | name |
| 15109779 | CV785386 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2358C>T (p.Ser786=) | not provided [RCV000977306] | likely benign | 16 | 77320023 | 77320023 | Human | | name |
| 26919564 | CV844329 | single nucleotide variant | NM_199355.4(ADAMTS18):c.157G>T (p.Gly53Cys) | not provided [RCV001045844] | uncertain significance | 16 | 77434439 | 77434439 | Human | | name |
| 26901088 | CV844330 | single nucleotide variant | NM_199355.4(ADAMTS18):c.133G>A (p.Ala45Thr) | not provided [RCV001068274] | uncertain significance | 16 | 77434463 | 77434463 | Human | | name |
| 8635913 | CV91136 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2997C>T (p.Pro999=) | not provided [RCV003039575] | likely benign|not provided | 16 | 77294932 | 77294932 | Human | | name |
| 8635914 | CV91137 | single nucleotide variant | NM_199355.2(ADAMTS18):c.2838C>T (p.Ala946=) | Malignant melanoma [RCV000071235] | not provided | 16 | 77295091 | 77295091 | Human | | name |
| 8635917 | CV91140 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2403C>T (p.Thr801=) | not provided [RCV001470848] | likely benign|not provided | 16 | 77319978 | 77319978 | Human | | name |
| 8635918 | CV91141 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2355C>T (p.Ser785=) | not provided [RCV001470371] | likely benign|not provided | 16 | 77320026 | 77320026 | Human | | name |
| 38487181 | CV937619 | single nucleotide variant | NM_199355.4(ADAMTS18):c.269C>T (p.Ala90Val) | not provided [RCV001209206] | uncertain significance | 16 | 77431521 | 77431521 | Human | | name |
| 38485493 | CV949574 | single nucleotide variant | NM_199355.4(ADAMTS18):c.242T>G (p.Leu81Trp) | not provided [RCV001236778] | uncertain significance | 16 | 77431548 | 77431548 | Human | | name |
| 38499384 | CV957880 | single nucleotide variant | NM_199355.4(ADAMTS18):c.251G>T (p.Gly84Val) | Inborn genetic diseases [RCV004609707]|not provided [RCV001244585] | uncertain significance | 16 | 77431539 | 77431539 | Human | 1 | name |
| 126750235 | CV997162 | single nucleotide variant | NM_199355.4(ADAMTS18):c.263G>A (p.Arg88Gln) | not provided [RCV001297286] | uncertain significance | 16 | 77431527 | 77431527 | Human | | name |
| 126754483 | CV997163 | single nucleotide variant | NM_199355.4(ADAMTS18):c.178G>A (p.Asp60Asn) | not provided [RCV001298140] | uncertain significance | 16 | 77434418 | 77434418 | Human | | name |
| 126759528 | CV997164 | single nucleotide variant | NM_199355.4(ADAMTS18):c.161C>T (p.Ala54Val) | Inborn genetic diseases [RCV004609747]|not provided [RCV001309042] | uncertain significance | 16 | 77434435 | 77434435 | Human | 1 | name |
| 126748644 | CV1012413 | single nucleotide variant | NM_199355.4(ADAMTS18):c.964A>G (p.Met322Val) | not provided [RCV001315573] | uncertain significance | 16 | 77364196 | 77364196 | Human | | name |
| 126736758 | CV1012414 | single nucleotide variant | NM_199355.4(ADAMTS18):c.767G>A (p.Arg256Gln) | not provided [RCV001324709] | uncertain significance | 16 | 77367452 | 77367452 | Human | | name |
| 126736119 | CV1012415 | single nucleotide variant | NM_199355.4(ADAMTS18):c.692A>C (p.His231Pro) | not provided [RCV001324617] | uncertain significance | 16 | 77367527 | 77367527 | Human | | name |
| 126758750 | CV1012416 | single nucleotide variant | NM_199355.4(ADAMTS18):c.584C>T (p.Ala195Val) | not provided [RCV001317866] | uncertain significance | 16 | 77367635 | 77367635 | Human | | name |
| 126772443 | CV1012417 | single nucleotide variant | NM_199355.4(ADAMTS18):c.569A>G (p.Asn190Ser) | not provided [RCV001323757] | uncertain significance | 16 | 77367650 | 77367650 | Human | | name |
| 126744209 | CV1012418 | single nucleotide variant | NM_199355.4(ADAMTS18):c.518A>G (p.Lys173Arg) | not provided [RCV001325732] | uncertain significance | 16 | 77367701 | 77367701 | Human | | name |
| 126747984 | CV1032895 | single nucleotide variant | NM_199355.4(ADAMTS18):c.739A>G (p.Arg247Gly) | Inborn genetic diseases [RCV002547537]|not provided [RCV001351773] | uncertain significance | 16 | 77367480 | 77367480 | Human | 1 | name |
| 126748764 | CV1032896 | single nucleotide variant | NM_199355.4(ADAMTS18):c.482C>T (p.Thr161Met) | not provided [RCV001337717] | uncertain significance | 16 | 77431308 | 77431308 | Human | | name |
| 126921528 | CV1049878 | single nucleotide variant | NM_199355.4(ADAMTS18):c.895G>A (p.Val299Met) | not provided [RCV001363598] | uncertain significance | 16 | 77364265 | 77364265 | Human | | name |
| 126908400 | CV1049879 | single nucleotide variant | NM_199355.4(ADAMTS18):c.881A>G (p.Asn294Ser) | not provided [RCV001367817] | uncertain significance | 16 | 77364279 | 77364279 | Human | | name |
| 126924574 | CV1049880 | single nucleotide variant | NM_199355.4(ADAMTS18):c.770G>C (p.Arg257Pro) | not provided [RCV001367188] | uncertain significance | 16 | 77367449 | 77367449 | Human | | name |
| 126919615 | CV1049881 | single nucleotide variant | NM_199355.4(ADAMTS18):c.701A>G (p.His234Arg) | not provided [RCV001373335] | uncertain significance | 16 | 77367518 | 77367518 | Human | | name |
| 126923187 | CV1049882 | single nucleotide variant | NM_199355.4(ADAMTS18):c.455A>G (p.Asp152Gly) | not provided [RCV001365554] | uncertain significance | 16 | 77431335 | 77431335 | Human | | name |
| 126924011 | CV1049883 | single nucleotide variant | NM_199355.4(ADAMTS18):c.418G>A (p.Val140Met) | not provided [RCV001366522] | uncertain significance | 16 | 77431372 | 77431372 | Human | | name |
| 127260511 | CV1063747 | deletion | NM_199355.4(ADAMTS18):c.2813del (p.Gly938fs) | not provided [RCV001380345] | pathogenic | 16 | 77295116 | 77295116 | Human | | name |
| 127266683 | CV1063750 | single nucleotide variant | NM_199355.4(ADAMTS18):c.736C>T (p.Arg246Ter) | not provided [RCV001381756] | pathogenic | 16 | 77367483 | 77367483 | Human | | name |
| 127230731 | CV1082418 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3564C>T (p.Cys1188=) | not provided [RCV001412661] | likely benign | 16 | 77284058 | 77284058 | Human | | name |
| 127237872 | CV1082420 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3240C>T (p.Ser1080=) | not provided [RCV001397226] | likely benign | 16 | 77291428 | 77291428 | Human | | name |
| 127274006 | CV1082421 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3048C>T (p.Leu1016=) | not provided [RCV001406216] | likely benign | 16 | 77293217 | 77293217 | Human | | name |
| 127242407 | CV1082422 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3030G>T (p.Gly1010=) | not provided [RCV001398181] | likely benign | 16 | 77293235 | 77293235 | Human | | name |
| 127274974 | CV1104219 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3387A>G (p.Ser1129=) | not provided [RCV001432137] | likely benign | 16 | 77291281 | 77291281 | Human | | name |
| 127279977 | CV1104220 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3321A>G (p.Glu1107=) | not provided [RCV001446134] | likely benign | 16 | 77291347 | 77291347 | Human | | name |
| 127233691 | CV1104222 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3162A>G (p.Leu1054=) | not provided [RCV001421840] | likely benign | 16 | 77293103 | 77293103 | Human | | name |
| 127243403 | CV1104223 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3156C>T (p.Ser1052=) | not provided [RCV001434814] | likely benign | 16 | 77293109 | 77293109 | Human | | name |
| 127283242 | CV1104242 | single nucleotide variant | NM_199355.4(ADAMTS18):c.691C>T (p.His231Tyr) | not provided [RCV001448396] | likely benign | 16 | 77367528 | 77367528 | Human | | name |
| 127267237 | CV1104243 | single nucleotide variant | NM_199355.4(ADAMTS18):c.653C>G (p.Pro218Arg) | Inborn genetic diseases [RCV002555156]|not provided [RCV001429617] | likely benign|uncertain significance | 16 | 77367566 | 77367566 | Human | 1 | name |
| 127337522 | CV1125623 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3657G>A (p.Arg1219=) | not provided [RCV001475719] | likely benign | 16 | 77283965 | 77283965 | Human | | name |
| 127304224 | CV1125624 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3648A>G (p.Ser1216=) | not provided [RCV001454921] | likely benign | 16 | 77283974 | 77283974 | Human | | name |
| 127293545 | CV1125626 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3273C>T (p.Phe1091=) | not provided [RCV001476616] | likely benign | 16 | 77291395 | 77291395 | Human | | name |
| 127335078 | CV1125627 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3225G>A (p.Arg1075=) | not provided [RCV001474003] | likely benign | 16 | 77291443 | 77291443 | Human | | name |
| 127304905 | CV1125628 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3198A>G (p.Ala1066=) | not provided [RCV001462369] | likely benign | 16 | 77291470 | 77291470 | Human | | name |
| 127332671 | CV1125629 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3186C>T (p.Ser1062=) | not provided [RCV001472383] | likely benign | 16 | 77293079 | 77293079 | Human | | name |
| 127306121 | CV1125630 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3174T>C (p.Ala1058=) | not provided [RCV001462696] | likely benign | 16 | 77293091 | 77293091 | Human | | name |
| 127302177 | CV1125631 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3069A>G (p.Ala1023=) | not provided [RCV001461560] | likely benign | 16 | 77293196 | 77293196 | Human | | name |
| 127317023 | CV1146520 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3408A>C (p.Thr1136=) | not provided [RCV001483044] | likely benign | 16 | 77289406 | 77289406 | Human | | name |
| 127294586 | CV1146523 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3180G>T (p.Ser1060=) | not provided [RCV001497017] | likely benign | 16 | 77293085 | 77293085 | Human | | name |
| 127299201 | CV1146525 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3066C>T (p.Ala1022=) | not provided [RCV001498247] | likely benign | 16 | 77293199 | 77293199 | Human | | name |
| 127286515 | CV1146544 | single nucleotide variant | NM_199355.4(ADAMTS18):c.340C>A (p.Pro114Thr) | ADAMTS18-related disorder [RCV003948445]|not provided [RCV001494318] | likely benign | 16 | 77431450 | 77431450 | Human | 1 | name , alternate_id |
| 127317811 | CV1157844 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3144C>T (p.Cys1048=) | not provided [RCV001521323] | benign | 16 | 77293121 | 77293121 | Human | | name |
| 127319424 | CV1157867 | single nucleotide variant | NM_199355.4(ADAMTS18):c.517A>G (p.Lys173Glu) | not provided [RCV001522127] | benign | 16 | 77367702 | 77367702 | Human | | name |
| 150554823 | CV1304563 | single nucleotide variant | NM_199355.4(ADAMTS18):c.862A>C (p.Lys288Gln) | not provided [RCV001771533] | uncertain significance | 16 | 77364298 | 77364298 | Human | | name |
| 151809141 | CV1337325 | single nucleotide variant | NM_199355.4(ADAMTS18):c.683C>A (p.Ser228Tyr) | Inborn genetic diseases [RCV002657718]|not provided [RCV002028799] | uncertain significance | 16 | 77367536 | 77367536 | Human | 1 | name |
| 151780347 | CV1341747 | single nucleotide variant | NM_199355.4(ADAMTS18):c.655G>A (p.Gly219Ser) | Inborn genetic diseases [RCV004611945]|not provided [RCV001897179] | likely benign|uncertain significance | 16 | 77367564 | 77367564 | Human | 1 | name |
| 151890872 | CV1346802 | single nucleotide variant | NM_199355.4(ADAMTS18):c.781G>A (p.Ala261Thr) | not provided [RCV002038930] | uncertain significance | 16 | 77364379 | 77364379 | Human | | name |
| 151732150 | CV1351130 | single nucleotide variant | NM_199355.4(ADAMTS18):c.892C>G (p.Leu298Val) | not provided [RCV002004893] | uncertain significance | 16 | 77364268 | 77364268 | Human | | name |
| 151812821 | CV1355522 | single nucleotide variant | NM_199355.4(ADAMTS18):c.550C>A (p.Leu184Ile) | not provided [RCV002012612] | uncertain significance | 16 | 77367669 | 77367669 | Human | | name |
| 151873682 | CV1356383 | single nucleotide variant | NM_199355.4(ADAMTS18):c.549G>C (p.Gln183His) | not provided [RCV001925538] | uncertain significance | 16 | 77367670 | 77367670 | Human | | name |
| 151780530 | CV1357596 | single nucleotide variant | NM_199355.4(ADAMTS18):c.354G>C (p.Leu118Phe) | not provided [RCV001875313] | uncertain significance | 16 | 77431436 | 77431436 | Human | | name |
| 151880397 | CV1360029 | single nucleotide variant | NM_199355.4(ADAMTS18):c.643C>T (p.Arg215Cys) | Inborn genetic diseases [RCV004044893]|not provided [RCV002036788] | uncertain significance | 16 | 77367576 | 77367576 | Human | 1 | name |
| 151780662 | CV1363799 | single nucleotide variant | NM_199355.4(ADAMTS18):c.883G>A (p.Val295Met) | not provided [RCV001864934] | uncertain significance | 16 | 77364277 | 77364277 | Human | | name |
| 151802998 | CV1364643 | single nucleotide variant | NM_199355.4(ADAMTS18):c.852A>T (p.Arg284Ser) | not provided [RCV001991123] | uncertain significance | 16 | 77364308 | 77364308 | Human | | name |
| 151844232 | CV1375932 | single nucleotide variant | NM_199355.4(ADAMTS18):c.803A>T (p.Asp268Val) | not provided [RCV001995126] | uncertain significance | 16 | 77364357 | 77364357 | Human | | name |
| 151813951 | CV1382264 | single nucleotide variant | NM_199355.4(ADAMTS18):c.653C>A (p.Pro218His) | not provided [RCV001992098] | uncertain significance | 16 | 77367566 | 77367566 | Human | | name |
| 151765680 | CV1393758 | single nucleotide variant | NM_199355.4(ADAMTS18):c.816G>C (p.Arg272Ser) | not provided [RCV002008353] | uncertain significance | 16 | 77364344 | 77364344 | Human | | name |
| 151801148 | CV1414060 | single nucleotide variant | NM_199355.4(ADAMTS18):c.472G>A (p.Ala158Thr) | not provided [RCV002047989] | uncertain significance | 16 | 77431318 | 77431318 | Human | | name |
| 151822974 | CV1415189 | single nucleotide variant | NM_199355.4(ADAMTS18):c.923A>C (p.Lys308Thr) | Inborn genetic diseases [RCV003167264]|not provided [RCV001954948] | uncertain significance | 16 | 77364237 | 77364237 | Human | 1 | name |
| 151842232 | CV1423918 | single nucleotide variant | NM_199355.4(ADAMTS18):c.560A>T (p.Gln187Leu) | not provided [RCV001977837] | uncertain significance | 16 | 77367659 | 77367659 | Human | | name |
| 151753168 | CV1426970 | single nucleotide variant | NM_199355.4(ADAMTS18):c.349A>G (p.Ile117Val) | not provided [RCV002007074] | uncertain significance | 16 | 77431441 | 77431441 | Human | | name |
| 151884263 | CV1432263 | single nucleotide variant | NM_199355.4(ADAMTS18):c.946A>T (p.Thr316Ser) | not provided [RCV002000235] | uncertain significance | 16 | 77364214 | 77364214 | Human | | name |
| 151863707 | CV1445599 | single nucleotide variant | NM_199355.4(ADAMTS18):c.619G>A (p.Ala207Thr) | not provided [RCV002018085] | uncertain significance | 16 | 77367600 | 77367600 | Human | | name |
| 151775317 | CV1450374 | single nucleotide variant | NM_199355.4(ADAMTS18):c.406C>G (p.Gln136Glu) | not provided [RCV001915378] | uncertain significance | 16 | 77431384 | 77431384 | Human | | name |
| 151745600 | CV1450484 | single nucleotide variant | NM_199355.4(ADAMTS18):c.769C>T (p.Arg257Cys) | Inborn genetic diseases [RCV002555600]|not provided [RCV001893736] | uncertain significance | 16 | 77367450 | 77367450 | Human | 1 | name |
| 151847863 | CV1450705 | single nucleotide variant | NM_199355.4(ADAMTS18):c.389A>T (p.Asp130Val) | not provided [RCV001957578] | uncertain significance | 16 | 77431401 | 77431401 | Human | | name |
| 151739639 | CV1454909 | single nucleotide variant | NM_199355.4(ADAMTS18):c.766C>T (p.Arg256Ter) | not provided [RCV001946974] | pathogenic | 16 | 77367453 | 77367453 | Human | | name |
| 151865484 | CV1456011 | single nucleotide variant | NM_199355.4(ADAMTS18):c.836C>G (p.Ser279Cys) | not provided [RCV002035001] | uncertain significance | 16 | 77364324 | 77364324 | Human | | name |
| 151889359 | CV1468636 | single nucleotide variant | NM_199355.4(ADAMTS18):c.794C>T (p.Pro265Leu) | not provided [RCV002001275] | uncertain significance | 16 | 77364366 | 77364366 | Human | | name |
| 151717072 | CV1472915 | single nucleotide variant | NM_199355.4(ADAMTS18):c.458G>T (p.Ser153Ile) | not provided [RCV002039493] | uncertain significance | 16 | 77431332 | 77431332 | Human | | name |
| 151713835 | CV1476792 | single nucleotide variant | NM_199355.4(ADAMTS18):c.700C>T (p.His234Tyr) | Inborn genetic diseases [RCV005320938]|not provided [RCV001908558] | uncertain significance | 16 | 77367519 | 77367519 | Human | 1 | name |
| 151747944 | CV1478730 | single nucleotide variant | NM_199355.4(ADAMTS18):c.856G>T (p.Ala286Ser) | Inborn genetic diseases [RCV004976162]|not provided [RCV002023053] | uncertain significance | 16 | 77364304 | 77364304 | Human | 1 | name |
| 151792177 | CV1482459 | single nucleotide variant | NM_199355.4(ADAMTS18):c.299G>A (p.Arg100Gln) | not provided [RCV002047211] | uncertain significance | 16 | 77431491 | 77431491 | Human | | name |
| 151720957 | CV1491634 | single nucleotide variant | NM_199355.4(ADAMTS18):c.407A>C (p.Gln136Pro) | not provided [RCV002003659] | uncertain significance | 16 | 77431383 | 77431383 | Human | | name |
| 152046482 | CV1548304 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3465G>A (p.Arg1155=) | not provided [RCV002071653] | likely benign | 16 | 77289349 | 77289349 | Human | | name |
| 152144571 | CV1582538 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3435C>G (p.Thr1145=) | not provided [RCV002201039] | likely benign | 16 | 77289379 | 77289379 | Human | | name |
| 152170286 | CV1592351 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3171C>T (p.Val1057=) | not provided [RCV002161719] | likely benign | 16 | 77293094 | 77293094 | Human | | name |
| 152054407 | CV1609992 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3081C>T (p.Pro1027=) | not provided [RCV002167256] | likely benign | 16 | 77293184 | 77293184 | Human | | name |
| 152049077 | CV1615919 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3636A>G (p.Gln1212=) | not provided [RCV002166635] | likely benign | 16 | 77283986 | 77283986 | Human | | name |
| 152050885 | CV1636930 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3195T>C (p.Ser1065=) | not provided [RCV002189402] | likely benign | 16 | 77291473 | 77291473 | Human | | name |
| 152143878 | CV1651560 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3393G>A (p.Pro1131=) | not provided [RCV002138521] | likely benign | 16 | 77291275 | 77291275 | Human | | name |
| 152091113 | CV1662125 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3436C>A (p.Arg1146=) | not provided [RCV002132056] | benign | 16 | 77289378 | 77289378 | Human | | name |
| 156416468 | CV1905215 | single nucleotide variant | NM_199355.4(ADAMTS18):c.644G>A (p.Arg215His) | not provided [RCV002610192] | uncertain significance | 16 | 77367575 | 77367575 | Human | | name |
| 156364734 | CV1928615 | single nucleotide variant | NM_199355.4(ADAMTS18):c.991G>C (p.Asp331His) | not provided [RCV002632925] | uncertain significance | 16 | 77363867 | 77363867 | Human | | name |
| 156148580 | CV1970806 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3285A>G (p.Arg1095=) | not provided [RCV002594071] | likely benign | 16 | 77291383 | 77291383 | Human | | name |
| 156411268 | CV1976190 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3042T>C (p.Arg1014=) | not provided [RCV002587435] | likely benign | 16 | 77293223 | 77293223 | Human | | name |
| 155912324 | CV1980272 | single nucleotide variant | NM_199355.4(ADAMTS18):c.334C>A (p.Leu112Ile) | not provided [RCV002614083] | uncertain significance | 16 | 77431456 | 77431456 | Human | | name |
| 156087848 | CV1983863 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3441A>G (p.Ser1147=) | not provided [RCV002621756] | likely benign | 16 | 77289373 | 77289373 | Human | | name |
| 156352578 | CV1994562 | single nucleotide variant | NM_199355.4(ADAMTS18):c.719A>T (p.Glu240Val) | ADAMTS18-related disorder [RCV003403881]|not provided [RCV002675698] | likely pathogenic|uncertain significance | 16 | 77367500 | 77367500 | Human | 1 | name , alternate_id |
| 156115285 | CV1995411 | single nucleotide variant | NM_199355.4(ADAMTS18):c.688A>G (p.Ser230Gly) | not provided [RCV002640098] | uncertain significance | 16 | 77367531 | 77367531 | Human | | name |
| 156243934 | CV1996477 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3114G>A (p.Glu1038=) | not provided [RCV002668021] | likely benign | 16 | 77293151 | 77293151 | Human | | name |
| 156237539 | CV1999654 | single nucleotide variant | NM_199355.4(ADAMTS18):c.836C>T (p.Ser279Phe) | not provided [RCV002667811] | uncertain significance | 16 | 77364324 | 77364324 | Human | | name |
| 156304859 | CV1999772 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3060C>G (p.Gly1020=) | not provided [RCV002671332] | benign | 16 | 77293205 | 77293205 | Human | | name |
| 156030211 | CV2001101 | single nucleotide variant | NM_199355.4(ADAMTS18):c.570C>G (p.Asn190Lys) | Inborn genetic diseases [RCV003250556]|not provided [RCV002658628] | uncertain significance | 16 | 77367649 | 77367649 | Human | 1 | name |
| 156397994 | CV2009242 | single nucleotide variant | NM_199355.4(ADAMTS18):c.868C>A (p.Gln290Lys) | not provided [RCV002725756] | uncertain significance | 16 | 77364292 | 77364292 | Human | | name |
| 155956614 | CV2010474 | single nucleotide variant | NM_199355.4(ADAMTS18):c.689G>A (p.Ser230Asn) | not provided [RCV002686298] | uncertain significance | 16 | 77367530 | 77367530 | Human | | name |
| 156393254 | CV2019070 | single nucleotide variant | NM_199355.4(ADAMTS18):c.726G>C (p.Glu242Asp) | not provided [RCV002725262] | uncertain significance | 16 | 77367493 | 77367493 | Human | | name |
| 156216929 | CV2028709 | single nucleotide variant | NM_199355.4(ADAMTS18):c.821A>G (p.Asp274Gly) | not provided [RCV002711989] | uncertain significance | 16 | 77364339 | 77364339 | Human | | name |
| 156371397 | CV2031146 | single nucleotide variant | NM_199355.4(ADAMTS18):c.970A>G (p.Met324Val) | not provided [RCV002721544] | uncertain significance | 16 | 77364190 | 77364190 | Human | | name |
| 156022712 | CV2040773 | single nucleotide variant | NM_199355.4(ADAMTS18):c.578C>A (p.Ser193Tyr) | not provided [RCV002795663] | uncertain significance | 16 | 77367641 | 77367641 | Human | | name |
| 155935247 | CV2063766 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3129T>C (p.Cys1043=) | not provided [RCV002839030] | likely benign | 16 | 77293136 | 77293136 | Human | | name |
| 155942688 | CV2068366 | single nucleotide variant | NM_199355.4(ADAMTS18):c.682T>G (p.Ser228Ala) | not provided [RCV002839517] | uncertain significance | 16 | 77367537 | 77367537 | Human | | name |
| 155912222 | CV2069640 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3105C>G (p.Pro1035=) | not provided [RCV002837801] | likely benign | 16 | 77293160 | 77293160 | Human | | name |
| 156152881 | CV2070506 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3429C>G (p.Val1143=) | not provided [RCV002850929] | likely benign | 16 | 77289385 | 77289385 | Human | | name |
| 155909895 | CV2073117 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3597T>G (p.Pro1199=) | not provided [RCV002837629] | likely benign | 16 | 77284025 | 77284025 | Human | | name |
| 156171005 | CV2075555 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3489T>C (p.His1163=) | not provided [RCV002851529] | likely benign | 16 | 77289325 | 77289325 | Human | | name |
| 155906911 | CV2077387 | single nucleotide variant | NM_199355.4(ADAMTS18):c.622G>T (p.Glu208Ter) | not provided [RCV002858209] | pathogenic | 16 | 77367597 | 77367597 | Human | | name |
| 155955880 | CV2078243 | single nucleotide variant | NM_199355.4(ADAMTS18):c.461C>G (p.Ser154Cys) | not provided [RCV002880762] | uncertain significance | 16 | 77431329 | 77431329 | Human | | name |
| 155996130 | CV2095767 | single nucleotide variant | NM_199355.4(ADAMTS18):c.596C>G (p.Pro199Arg) | not provided [RCV002908393] | uncertain significance | 16 | 77367623 | 77367623 | Human | | name |
| 156005982 | CV2099739 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3393G>C (p.Pro1131=) | not provided [RCV002908858] | likely benign | 16 | 77291275 | 77291275 | Human | | name |
| 156338895 | CV2106673 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3276A>G (p.Pro1092=) | not provided [RCV002938787] | likely benign | 16 | 77291392 | 77291392 | Human | | name |
| 156331468 | CV2112701 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3123G>A (p.Glu1041=) | not provided [RCV002938391] | likely benign | 16 | 77293142 | 77293142 | Human | | name |
| 155956153 | CV2120416 | single nucleotide variant | NM_199355.4(ADAMTS18):c.710A>C (p.Gln237Pro) | not provided [RCV002972135] | uncertain significance | 16 | 77367509 | 77367509 | Human | | name |
| 155953281 | CV2123655 | single nucleotide variant | NM_199355.4(ADAMTS18):c.890C>T (p.Thr297Ile) | not provided [RCV002971982] | uncertain significance | 16 | 77364270 | 77364270 | Human | | name |
| 156343664 | CV2124122 | single nucleotide variant | NM_199355.4(ADAMTS18):c.688A>C (p.Ser230Arg) | not provided [RCV002939042] | uncertain significance | 16 | 77367531 | 77367531 | Human | | name |
| 155937101 | CV2125783 | single nucleotide variant | NM_199355.4(ADAMTS18):c.643C>A (p.Arg215Ser) | not provided [RCV002971028] | uncertain significance | 16 | 77367576 | 77367576 | Human | | name |
| 156342229 | CV2127676 | single nucleotide variant | NM_199355.4(ADAMTS18):c.341C>T (p.Pro114Leu) | not provided [RCV002938959] | uncertain significance | 16 | 77431449 | 77431449 | Human | | name |
| 156041980 | CV2130722 | single nucleotide variant | NM_199355.4(ADAMTS18):c.560A>G (p.Gln187Arg) | Inborn genetic diseases [RCV004614286]|not provided [RCV002949656] | uncertain significance | 16 | 77367659 | 77367659 | Human | 1 | name |
| 156227156 | CV2145962 | single nucleotide variant | NM_199355.4(ADAMTS18):c.515G>T (p.Arg172Leu) | not provided [RCV003025505] | uncertain significance | 16 | 77367704 | 77367704 | Human | | name |
| 155914007 | CV2149618 | single nucleotide variant | NM_199355.4(ADAMTS18):c.934G>T (p.Gly312Ter) | not provided [RCV003012465] | pathogenic | 16 | 77364226 | 77364226 | Human | | name |
| 156089498 | CV2155556 | single nucleotide variant | NM_199355.4(ADAMTS18):c.528C>A (p.Phe176Leu) | not provided [RCV003020631] | uncertain significance | 16 | 77367691 | 77367691 | Human | | name |
| 156358744 | CV2162272 | single nucleotide variant | NM_199355.4(ADAMTS18):c.565C>T (p.His189Tyr) | not provided [RCV003031414] | uncertain significance | 16 | 77367654 | 77367654 | Human | | name |
| 156287243 | CV2172341 | single nucleotide variant | NM_199355.4(ADAMTS18):c.895G>C (p.Val299Leu) | not provided [RCV003027535] | uncertain significance | 16 | 77364265 | 77364265 | Human | | name |
| 156260141 | CV2181665 | single nucleotide variant | NM_199355.4(ADAMTS18):c.686C>A (p.Pro229Gln) | not provided [RCV003044088] | uncertain significance | 16 | 77367533 | 77367533 | Human | | name |
| 156374060 | CV2190785 | deletion | NM_199355.4(ADAMTS18):c.2435del (p.Phe812fs) | not provided [RCV003049948] | pathogenic | 16 | 77319946 | 77319946 | Human | | name |
| 156290376 | CV2192324 | single nucleotide variant | NM_199355.4(ADAMTS18):c.608A>G (p.Tyr203Cys) | not provided [RCV003045118] | uncertain significance | 16 | 77367611 | 77367611 | Human | | name |
| 156388751 | CV2231976 | single nucleotide variant | NM_199355.4(ADAMTS18):c.834C>A (p.Ser278Arg) | Inborn genetic diseases [RCV002724197] | uncertain significance | 16 | 77364326 | 77364326 | Human | 1 | name |
| 156102406 | CV2260415 | single nucleotide variant | NM_199355.4(ADAMTS18):c.410A>G (p.Lys137Arg) | Inborn genetic diseases [RCV002799209]|not provided [RCV005059288] | uncertain significance | 16 | 77431380 | 77431380 | Human | 1 | name |
| 401753857 | CV2685082 | single nucleotide variant | NM_199355.4(ADAMTS18):c.326A>G (p.His109Arg) | Inborn genetic diseases [RCV003254807] | uncertain significance | 16 | 77431464 | 77431464 | Human | 1 | name |
| 401934534 | CV2817827 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3015G>A (p.Lys1005=) | not provided [RCV003411428] | uncertain significance | 16 | 77293250 | 77293250 | Human | | name |
| 401917009 | CV2829613 | single nucleotide variant | NM_199355.4(ADAMTS18):c.770G>A (p.Arg257His) | not provided [RCV003443657] | uncertain significance | 16 | 77367449 | 77367449 | Human | | name |
| 405233067 | CV2965251 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3450T>C (p.Cys1150=) | not provided [RCV003682499] | likely benign | 16 | 77289364 | 77289364 | Human | | name |
| 405128607 | CV3133199 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3663C>T (p.Ile1221=) | not provided [RCV003838169] | likely benign | 16 | 77283959 | 77283959 | Human | | name |
| 405129229 | CV3133260 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3570T>C (p.Asp1190=) | not provided [RCV003838230] | likely benign | 16 | 77284052 | 77284052 | Human | | name |
| 405223460 | CV3151159 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3630A>C (p.Gly1210=) | not provided [RCV003847584] | likely benign | 16 | 77283992 | 77283992 | Human | | name |
| 405234776 | CV3155587 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3609C>G (p.Val1203=) | not provided [RCV003853565] | likely benign | 16 | 77284013 | 77284013 | Human | | name |
| 405190778 | CV3157028 | single nucleotide variant | NM_199355.4(ADAMTS18):c.950A>G (p.Tyr317Cys) | not provided [RCV003859716] | uncertain significance | 16 | 77364210 | 77364210 | Human | | name |
| 405228438 | CV3180371 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3612C>T (p.Cys1204=) | not provided [RCV003864791] | likely benign | 16 | 77284010 | 77284010 | Human | | name |
| 405684864 | CV3235603 | single nucleotide variant | NM_199355.4(ADAMTS18):c.317A>G (p.Gln106Arg) | Inborn genetic diseases [RCV004372117] | uncertain significance | 16 | 77431473 | 77431473 | Human | 1 | name |
| 405685122 | CV3235652 | single nucleotide variant | NM_199355.4(ADAMTS18):c.590A>T (p.His197Leu) | Inborn genetic diseases [RCV004372166] | uncertain significance | 16 | 77367629 | 77367629 | Human | 1 | name |
| 596942034 | CV3408369 | single nucleotide variant | NM_199355.4(ADAMTS18):c.363C>A (p.His121Gln) | Retinal dystrophy [RCV004816040] | uncertain significance | 16 | 77431427 | 77431427 | Human | 2 | name |
| 407455406 | CV3422675 | single nucleotide variant | NM_199355.4(ADAMTS18):c.322C>G (p.Leu108Val) | Inborn genetic diseases [RCV004610303] | uncertain significance | 16 | 77431468 | 77431468 | Human | 1 | name |
| 407455456 | CV3422695 | single nucleotide variant | NM_199355.4(ADAMTS18):c.668A>C (p.Asn223Thr) | Inborn genetic diseases [RCV004610323] | uncertain significance | 16 | 77367551 | 77367551 | Human | 1 | name |
| 597631667 | CV3645261 | single nucleotide variant | NM_199355.4(ADAMTS18):c.706T>A (p.Ser236Thr) | Inborn genetic diseases [RCV004967768] | uncertain significance | 16 | 77367513 | 77367513 | Human | 1 | name |
| 597655368 | CV3649035 | single nucleotide variant | NM_199355.4(ADAMTS18):c.715C>G (p.Arg239Gly) | Inborn genetic diseases [RCV004976365] | uncertain significance | 16 | 77367504 | 77367504 | Human | 1 | name |
| 597887452 | CV3741967 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3501G>T (p.Pro1167=) | not provided [RCV005070687] | likely benign | 16 | 77289313 | 77289313 | Human | | name |
| 597926409 | CV3748899 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3234G>A (p.Lys1078=) | not provided [RCV005075355] | likely benign | 16 | 77291434 | 77291434 | Human | | name |
| 597936579 | CV3759617 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3426G>A (p.Gly1142=) | not provided [RCV005076737] | likely benign | 16 | 77289388 | 77289388 | Human | | name |
| 597934064 | CV3777008 | single nucleotide variant | NM_199355.4(ADAMTS18):c.421C>T (p.Gln141Ter) | not provided [RCV005117167] | pathogenic | 16 | 77431369 | 77431369 | Human | | name |
| 597885887 | CV3777324 | single nucleotide variant | NM_199355.4(ADAMTS18):c.694A>T (p.Ile232Phe) | not provided [RCV005124923] | uncertain significance | 16 | 77367525 | 77367525 | Human | | name |
| 597933186 | CV3780881 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3105C>T (p.Pro1035=) | not provided [RCV005116993] | likely benign | 16 | 77293160 | 77293160 | Human | | name |
| 597917722 | CV3811208 | deletion | NM_199355.4(ADAMTS18):c.2085del (p.Phe695fs) | not provided [RCV005155243] | pathogenic | 16 | 77322414 | 77322414 | Human | | name |
| 597974749 | CV3831821 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3025C>A (p.Arg1009=) | not provided [RCV005168760] | likely benign | 16 | 77293240 | 77293240 | Human | | name |
| 597965265 | CV3848275 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3534A>G (p.Pro1178=) | not provided [RCV005194155] | likely benign | 16 | 77289280 | 77289280 | Human | | name |
| 597958127 | CV3849072 | single nucleotide variant | NM_199355.4(ADAMTS18):c.952A>G (p.Ile318Val) | not provided [RCV005192073] | uncertain significance | 16 | 77364208 | 77364208 | Human | | name |
| 598215901 | CV3891541 | single nucleotide variant | NM_199355.4(ADAMTS18):c.514C>T (p.Arg172Ter) | Microcornea-myopic chorioretinal atrophy [RCV005252383] | pathogenic | 16 | 77367705 | 77367705 | Human | 1 | name |
| 598179334 | CV3943686 | single nucleotide variant | NM_199355.4(ADAMTS18):c.848G>A (p.Arg283Lys) | Inborn genetic diseases [RCV005310494] | uncertain significance | 16 | 77364312 | 77364312 | Human | 1 | name |
| 598178814 | CV3947521 | single nucleotide variant | NM_199355.4(ADAMTS18):c.389A>G (p.Asp130Gly) | Inborn genetic diseases [RCV005310408] | uncertain significance | 16 | 77431401 | 77431401 | Human | 1 | name |
| 8602292 | CV39627 | single nucleotide variant | NM_199355.4(ADAMTS18):c.536C>T (p.Ser179Leu) | Knobloch syndrome [RCV000023647]|not provided [RCV001857361] | uncertain significance | 16 | 77367683 | 77367683 | Human | 1 | name |
| 15200857 | CV703826 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3525C>T (p.Asn1175=) | not provided [RCV000957452] | benign | 16 | 77289289 | 77289289 | Human | | name |
| 15172295 | CV703827 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3501G>A (p.Pro1167=) | not provided [RCV000949996] | benign | 16 | 77289313 | 77289313 | Human | | name |
| 15141082 | CV715082 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3120G>A (p.Gln1040=) | not provided [RCV000966248] | benign | 16 | 77293145 | 77293145 | Human | | name |
| 15182057 | CV715086 | single nucleotide variant | NM_199355.4(ADAMTS18):c.562G>A (p.Glu188Lys) | not provided [RCV000974542] | benign | 16 | 77367657 | 77367657 | Human | | name |
| 15181642 | CV726797 | single nucleotide variant | NM_199355.4(ADAMTS18):c.637C>T (p.Arg213Trp) | not provided [RCV000885811] | benign|likely benign | 16 | 77367582 | 77367582 | Human | | name |
| 15187324 | CV726798 | single nucleotide variant | NM_199355.4(ADAMTS18):c.601G>A (p.Val201Ile) | not provided [RCV000887223]|not specified [RCV001700491] | benign | 16 | 77367618 | 77367618 | Human | 4 | name |
| 15187324 | CV726798 | single nucleotide variant | NM_199355.4(ADAMTS18):c.601G>A (p.Val201Ile) | not provided [RCV000887223]|not specified [RCV001700491] | benign | 16 | 77367618 | 77367619 | Human | 4 | name |
| 15201188 | CV726800 | single nucleotide variant | NM_199355.4(ADAMTS18):c.438G>C (p.Gln146His) | ADAMTS18-related disorder [RCV003940684]|not provided [RCV000891125] | likely benign | 16 | 77431352 | 77431352 | Human | 1 | name , alternate_id |
| 15143182 | CV740352 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3573C>T (p.Phe1191=) | not provided [RCV000899796] | benign | 16 | 77284049 | 77284049 | Human | | name |
| 15178816 | CV740353 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3180G>A (p.Ser1060=) | not provided [RCV000906962] | likely benign | 16 | 77293085 | 77293085 | Human | | name |
| 15144634 | CV740363 | single nucleotide variant | NM_199355.4(ADAMTS18):c.875G>A (p.Gly292Asp) | not provided [RCV000900034] | likely benign | 16 | 77364285 | 77364285 | Human | | name |
| 8621908 | CV76947 | single nucleotide variant | NM_199355.4(ADAMTS18):c.605T>C (p.Leu202Pro) | Microcornea-myopic chorioretinal atrophy [RCV000056280] | pathogenic | 16 | 77367614 | 77367614 | Human | 1 | name |
| 15131425 | CV785382 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3627C>T (p.Tyr1209=) | not provided [RCV000981211] | likely benign | 16 | 77283995 | 77283995 | Human | | name |
| 21072889 | CV791643 | single nucleotide variant | NM_199355.4(ADAMTS18):c.571T>C (p.Tyr191His) | Microcornea-myopic chorioretinal atrophy [RCV000989637]|not provided [RCV001521325]|not specified [RCV001529179] | benign | 16 | 77367648 | 77367648 | Human | 1 | name |
| 26918838 | CV844320 | single nucleotide variant | NM_199355.4(ADAMTS18):c.944C>T (p.Thr315Ile) | not provided [RCV001044356] | uncertain significance | 16 | 77364216 | 77364216 | Human | | name |
| 26892464 | CV844321 | single nucleotide variant | NM_199355.4(ADAMTS18):c.854C>T (p.Ser285Leu) | not provided [RCV001061797] | uncertain significance | 16 | 77364306 | 77364306 | Human | | name |
| 26891996 | CV844322 | single nucleotide variant | NM_199355.4(ADAMTS18):c.845C>G (p.Pro282Arg) | Inborn genetic diseases [RCV003160491]|not provided [RCV001061207] | uncertain significance | 16 | 77364315 | 77364315 | Human | 1 | name |
| 26884912 | CV844323 | single nucleotide variant | NM_199355.4(ADAMTS18):c.741G>T (p.Arg247Ser) | not provided [RCV001052806] | uncertain significance | 16 | 77367478 | 77367478 | Human | | name |
| 26905078 | CV844324 | single nucleotide variant | NM_199355.4(ADAMTS18):c.664C>T (p.Arg222Trp) | not provided [RCV001071554] | uncertain significance | 16 | 77367555 | 77367555 | Human | | name |
| 26887908 | CV844325 | single nucleotide variant | NM_199355.4(ADAMTS18):c.638G>A (p.Arg213Gln) | not provided [RCV001056923] | uncertain significance | 16 | 77367581 | 77367581 | Human | | name |
| 26891626 | CV844326 | single nucleotide variant | NM_199355.4(ADAMTS18):c.583G>A (p.Ala195Thr) | not provided [RCV001060749] | uncertain significance | 16 | 77367636 | 77367636 | Human | | name |
| 26904611 | CV844327 | single nucleotide variant | NM_199355.4(ADAMTS18):c.557C>T (p.Ala186Val) | Inborn genetic diseases [RCV004030767]|not provided [RCV001070896] | uncertain significance | 16 | 77367662 | 77367662 | Human | 1 | name |
| 26886566 | CV844328 | single nucleotide variant | NM_199355.4(ADAMTS18):c.529C>T (p.Leu177Phe) | not provided [RCV001055125] | uncertain significance | 16 | 77367690 | 77367690 | Human | | name |
| 38487367 | CV927951 | single nucleotide variant | NM_199355.4(ADAMTS18):c.587G>A (p.Gly196Asp) | not provided [RCV001220705] | uncertain significance | 16 | 77367632 | 77367632 | Human | | name |
| 38474742 | CV927952 | single nucleotide variant | NM_199355.4(ADAMTS18):c.386A>G (p.Lys129Arg) | not provided [RCV001214873] | uncertain significance | 16 | 77431404 | 77431404 | Human | | name |
| 38468212 | CV937616 | single nucleotide variant | NM_199355.4(ADAMTS18):c.721A>G (p.Thr241Ala) | Inborn genetic diseases [RCV004033526]|not provided [RCV001202165] | uncertain significance | 16 | 77367498 | 77367498 | Human | 1 | name |
| 38480403 | CV937617 | single nucleotide variant | NM_199355.4(ADAMTS18):c.515G>A (p.Arg172Gln) | not provided [RCV001206378] | uncertain significance | 16 | 77367704 | 77367704 | Human | | name |
| 38484765 | CV937618 | single nucleotide variant | NM_199355.4(ADAMTS18):c.415G>A (p.Glu139Lys) | not provided [RCV001208187] | uncertain significance | 16 | 77431375 | 77431375 | Human | | name |
| 38496793 | CV949573 | single nucleotide variant | NM_199355.4(ADAMTS18):c.626A>G (p.Glu209Gly) | Inborn genetic diseases [RCV002563675]|not provided [RCV001226630] | uncertain significance | 16 | 77367593 | 77367593 | Human | 1 | name |
| 38498412 | CV957879 | single nucleotide variant | NM_199355.4(ADAMTS18):c.697C>G (p.Pro233Ala) | not provided [RCV001243808] | uncertain significance | 16 | 77367522 | 77367522 | Human | | name |
| 126755223 | CV997142 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3402G>A (p.Gln1134=) | not provided [RCV001298303] | uncertain significance | 16 | 77291266 | 77291266 | Human | | name |
| 126739705 | CV997159 | single nucleotide variant | NM_199355.4(ADAMTS18):c.791C>T (p.Pro264Leu) | not provided [RCV001305176] | uncertain significance | 16 | 77364369 | 77364369 | Human | | name |
| 126767541 | CV997160 | single nucleotide variant | NM_199355.4(ADAMTS18):c.757T>G (p.Phe253Val) | ADAMTS18-related disorder [RCV004753271]|not provided [RCV001302323] | uncertain significance | 16 | 77367462 | 77367462 | Human | 1 | name , alternate_id |
| 126754963 | CV997161 | single nucleotide variant | NM_199355.4(ADAMTS18):c.737G>A (p.Arg246Gln) | Inborn genetic diseases [RCV002541857]|not provided [RCV001298247] | uncertain significance | 16 | 77367482 | 77367482 | Human | 1 | name |
| 126915036 | CV1049867 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2869C>A (p.Gln957Lys) | not provided [RCV001370684] | uncertain significance | 16 | 77295060 | 77295060 | Human | | name |
| 126918545 | CV1049873 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1787C>T (p.Ser596Leu) | Inborn genetic diseases [RCV005318774]|not provided [RCV001361786] | uncertain significance | 16 | 77335828 | 77335828 | Human | 1 | name |
| 126912749 | CV1049874 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1730G>A (p.Cys577Tyr) | not provided [RCV001358928] | uncertain significance | 16 | 77335885 | 77335885 | Human | | name |
| 126915411 | CV1049875 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1727A>G (p.Gln576Arg) | not provided [RCV001370900] | uncertain significance | 16 | 77335888 | 77335888 | Human | | name |
| 8647120 | CV106756 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1453T>A (p.Phe485Ile) | not provided [RCV000087258] | uncertain significance | 16 | 77355947 | 77355947 | Human | | name |
| 151816281 | CV1342113 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2767C>A (p.Pro923Thr) | Inborn genetic diseases [RCV002564440]|Retinal dystrophy [RCV004816841]|not provided [RCV001975287] | uncertain significance | 16 | 77297323 | 77297323 | Human | 3 | name |
| 151829908 | CV1343383 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2324G>A (p.Arg775Gln) | not provided [RCV001920390] | uncertain significance | 16 | 77320057 | 77320057 | Human | | name |
| 151864377 | CV1346595 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1474G>A (p.Gly492Arg) | not provided [RCV001959641] | uncertain significance | 16 | 77353873 | 77353873 | Human | | name |
| 151891120 | CV1346910 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2467C>T (p.Arg823Cys) | not provided [RCV002039011] | uncertain significance | 16 | 77319914 | 77319914 | Human | | name |
| 151796623 | CV1347912 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2813G>A (p.Gly938Asp) | Inborn genetic diseases [RCV004612046]|not provided [RCV001990566] | uncertain significance | 16 | 77295116 | 77295116 | Human | 1 | name |
| 151767650 | CV1348746 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2726A>G (p.Asn909Ser) | not provided [RCV001896022] | uncertain significance | 16 | 77297364 | 77297364 | Human | | name |
| 151810775 | CV1350290 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1049A>G (p.Gln350Arg) | not provided [RCV002048834] | uncertain significance | 16 | 77363809 | 77363809 | Human | | name |
| 151885488 | CV1351011 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2782G>A (p.Ala928Thr) | Inborn genetic diseases [RCV004970433]|not provided [RCV001887365] | uncertain significance | 16 | 77297308 | 77297308 | Human | 1 | name |
| 151823477 | CV1351457 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1422G>T (p.Trp474Cys) | not provided [RCV001993011] | uncertain significance | 16 | 77355978 | 77355978 | Human | | name |
| 151803879 | CV1352702 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1548T>A (p.Asp516Glu) | not provided [RCV001899315] | uncertain significance | 16 | 77353799 | 77353799 | Human | | name |
| 151847985 | CV1352852 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2342A>T (p.Glu781Val) | not provided [RCV001922382] | uncertain significance | 16 | 77320039 | 77320039 | Human | | name |
| 151802918 | CV1354426 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1609G>T (p.Val537Leu) | not provided [RCV001867289] | uncertain significance | 16 | 77353738 | 77353738 | Human | | name |
| 151877346 | CV1368831 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1991G>A (p.Arg664His) | Inborn genetic diseases [RCV005321068]|not provided [RCV001999095] | uncertain significance | 16 | 77325907 | 77325907 | Human | 1 | name |
| 151805139 | CV1369073 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1157C>G (p.Ala386Gly) | not provided [RCV001991307] | uncertain significance | 16 | 77362164 | 77362164 | Human | | name |
| 151882417 | CV1371267 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2597G>T (p.Gly866Val) | not provided [RCV001886723] | uncertain significance | 16 | 77300340 | 77300340 | Human | | name |
| 151846400 | CV1386480 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2719C>A (p.Gln907Lys) | not provided [RCV001882000] | uncertain significance | 16 | 77297371 | 77297371 | Human | | name |
| 151725958 | CV1387095 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2374C>T (p.Arg792Ter) | not provided [RCV001910335] | pathogenic | 16 | 77320007 | 77320007 | Human | | name |
| 151839820 | CV1391298 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1616A>G (p.Asp539Gly) | Inborn genetic diseases [RCV003170286]|not provided [RCV001977553] | uncertain significance | 16 | 77341798 | 77341798 | Human | 1 | name |
| 151836913 | CV1392057 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1048C>T (p.Gln350Ter) | ADAMTS18-related disorder [RCV003407874]|not provided [RCV001902395] | pathogenic|likely pathogenic | 16 | 77363810 | 77363810 | Human | 1 | name , alternate_id |
| 151837248 | CV1392167 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2404G>C (p.Gly802Arg) | not provided [RCV001902429] | uncertain significance | 16 | 77319977 | 77319977 | Human | | name |
| 151892763 | CV1398956 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2600C>T (p.Thr867Ile) | not provided [RCV001944459] | uncertain significance | 16 | 77300337 | 77300337 | Human | | name |
| 151892817 | CV1399083 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2185C>G (p.Leu729Val) | not provided [RCV001944511] | uncertain significance | 16 | 77321181 | 77321181 | Human | | name |
| 151804089 | CV1401643 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1807C>T (p.Arg603Trp) | not provided [RCV001932578] | uncertain significance | 16 | 77335808 | 77335808 | Human | | name |
| 151773634 | CV1402199 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1376A>G (p.Asn459Ser) | not provided [RCV001929765] | uncertain significance | 16 | 77356024 | 77356024 | Human | | name |
| 151746133 | CV1402649 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1739T>C (p.Phe580Ser) | not provided [RCV001912441] | uncertain significance | 16 | 77335876 | 77335876 | Human | | name |
| 151743066 | CV1404397 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2972G>A (p.Cys991Tyr) | not provided [RCV002022512] | uncertain significance | 16 | 77294957 | 77294957 | Human | | name |
| 151721912 | CV1406562 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2371G>A (p.Val791Ile) | not provided [RCV002003799] | uncertain significance | 16 | 77320010 | 77320010 | Human | | name |
| 151730889 | CV1406984 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1436G>T (p.Arg479Leu) | not provided [RCV002021287] | uncertain significance | 16 | 77355964 | 77355964 | Human | | name |
| 151752832 | CV1407209 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2585A>T (p.Lys862Met) | not provided [RCV002023566] | uncertain significance | 16 | 77300352 | 77300352 | Human | | name |
| 151857573 | CV1408118 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1813T>A (p.Cys605Ser) | not provided [RCV001883513] | uncertain significance | 16 | 77335802 | 77335802 | Human | | name |
| 151857871 | CV1408197 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1573T>C (p.Phe525Leu) | not provided [RCV001883548] | uncertain significance | 16 | 77353774 | 77353774 | Human | | name |
| 151887845 | CV1409173 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2507C>G (p.Pro836Arg) | not provided [RCV001942473] | uncertain significance | 16 | 77319874 | 77319874 | Human | | name |
| 151728903 | CV1410060 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2808G>A (p.Met936Ile) | not provided [RCV001910663] | uncertain significance | 16 | 77295121 | 77295121 | Human | | name |
| 151795280 | CV1411026 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2471C>T (p.Ser824Phe) | not provided [RCV001973422] | uncertain significance | 16 | 77319910 | 77319910 | Human | | name |
| 151844597 | CV1416843 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1315G>A (p.Gly439Arg) | not provided [RCV001978117] | uncertain significance | 16 | 77359325 | 77359325 | Human | | name |
| 151773699 | CV1417181 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1593A>T (p.Leu531Phe) | not provided [RCV001971425] | uncertain significance | 16 | 77353754 | 77353754 | Human | | name |
| 151811983 | CV1417540 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1256G>C (p.Ser419Thr) | not provided [RCV002029059] | uncertain significance | 16 | 77359384 | 77359384 | Human | | name |
| 151859485 | CV1423078 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1435C>T (p.Arg479Cys) | not provided [RCV001923818] | uncertain significance | 16 | 77355965 | 77355965 | Human | | name |
| 151773846 | CV1424079 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2602C>G (p.Pro868Ala) | not provided [RCV002025620] | uncertain significance | 16 | 77300335 | 77300335 | Human | | name |
| 151799495 | CV1426298 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2515G>C (p.Glu839Gln) | not provided [RCV001990819] | uncertain significance | 16 | 77319866 | 77319866 | Human | | name |
| 151887296 | CV1426718 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2703G>C (p.Leu901Phe) | not provided [RCV002038158] | uncertain significance | 16 | 77297387 | 77297387 | Human | | name |
| 151745133 | CV1428112 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2314G>C (p.Ala772Pro) | not provided [RCV001926873] | uncertain significance | 16 | 77320067 | 77320067 | Human | | name |
| 151848733 | CV1430995 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1778C>A (p.Ser593Tyr) | not provided [RCV001922484] | uncertain significance | 16 | 77335837 | 77335837 | Human | | name |
| 151743127 | CV1431039 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2512A>G (p.Asn838Asp) | not provided [RCV001893469] | uncertain significance | 16 | 77319869 | 77319869 | Human | | name |
| 151763200 | CV1433927 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1867T>G (p.Tyr623Asp) | not provided [RCV002024613] | uncertain significance | 16 | 77326031 | 77326031 | Human | | name |
| 151760023 | CV1434957 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2870A>G (p.Gln957Arg) | not provided [RCV001913869] | uncertain significance | 16 | 77295059 | 77295059 | Human | | name |
| 151776611 | CV1436508 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1829A>C (p.Lys610Thr) | Retinal dystrophy [RCV004816866]|not provided [RCV001971687] | uncertain significance | 16 | 77335786 | 77335786 | Human | 2 | name |
| 151827430 | CV1437800 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1850A>G (p.Asn617Ser) | not provided [RCV001920160] | uncertain significance | 16 | 77335765 | 77335765 | Human | | name |
| 151816384 | CV1440990 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2603C>A (p.Pro868Gln) | not provided [RCV001933715] | uncertain significance | 16 | 77300334 | 77300334 | Human | | name |
| 151865134 | CV1443115 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2438C>A (p.Pro813His) | Inborn genetic diseases [RCV004038711]|not provided [RCV002034960] | uncertain significance | 16 | 77319943 | 77319943 | Human | 1 | name |
| 151757340 | CV1443507 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2593A>C (p.Asn865His) | not provided [RCV001872853] | uncertain significance | 16 | 77300344 | 77300344 | Human | | name |
| 151803924 | CV1444075 | deletion | NM_199355.4(ADAMTS18):c.3067del (p.Ala1023fs) | not provided [RCV001917963] | pathogenic | 16 | 77293198 | 77293198 | Human | | name |
| 151867044 | CV1446515 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2038G>T (p.Asp680Tyr) | not provided [RCV001980841] | uncertain significance | 16 | 77322461 | 77322461 | Human | | name |
| 151753439 | CV1457565 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2200G>T (p.Val734Phe) | not provided [RCV001913216] | uncertain significance | 16 | 77321166 | 77321166 | Human | | name |
| 151852283 | CV1459538 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2555C>T (p.Pro852Leu) | not provided [RCV002033336] | uncertain significance | 16 | 77300382 | 77300382 | Human | | name |
| 151744851 | CV1460725 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2978C>A (p.Pro993Gln) | not provided [RCV001871397] | uncertain significance | 16 | 77294951 | 77294951 | Human | | name |
| 151847319 | CV1461734 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1492C>T (p.Pro498Ser) | not provided [RCV001936886] | uncertain significance | 16 | 77353855 | 77353855 | Human | | name |
| 151840960 | CV1463039 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1174T>G (p.Phe392Val) | not provided [RCV002031811] | uncertain significance | 16 | 77362147 | 77362147 | Human | | name |
| 151850555 | CV1465871 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2365C>G (p.Leu789Val) | Inborn genetic diseases [RCV003346706]|not provided [RCV002033115] | uncertain significance | 16 | 77320016 | 77320016 | Human | 1 | name |
| 151793260 | CV1467654 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2908G>A (p.Val970Met) | not provided [RCV001931623] | uncertain significance | 16 | 77295021 | 77295021 | Human | | name |
| 151782494 | CV1469063 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1585G>A (p.Ala529Thr) | not provided [RCV002026393] | uncertain significance | 16 | 77353762 | 77353762 | Human | | name |
| 151738026 | CV1469494 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1579G>A (p.Ala527Thr) | Inborn genetic diseases [RCV005308522]|not provided [RCV002041936] | uncertain significance | 16 | 77353768 | 77353768 | Human | 1 | name |
| 151838127 | CV1470008 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1972T>C (p.Tyr658His) | not provided [RCV001881023] | uncertain significance | 16 | 77325926 | 77325926 | Human | | name |
| 151887152 | CV1471903 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1138G>A (p.Gly380Ser) | not provided [RCV002000826] | uncertain significance | 16 | 77362183 | 77362183 | Human | | name |
| 151815477 | CV1475759 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2042G>C (p.Arg681Pro) | not provided [RCV001992242] | uncertain significance | 16 | 77322457 | 77322457 | Human | | name |
| 151800210 | CV1480046 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1213C>G (p.Leu405Val) | not provided [RCV001898994] | uncertain significance | 16 | 77362108 | 77362108 | Human | | name |
| 151866741 | CV1480923 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2146A>G (p.Ile716Val) | not provided [RCV001959922] | uncertain significance | 16 | 77322353 | 77322353 | Human | | name |
| 151818206 | CV1482076 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2408G>A (p.Gly803Asp) | not provided [RCV002029627] | uncertain significance | 16 | 77319973 | 77319973 | Human | | name |
| 151876051 | CV1483330 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2926C>T (p.Pro976Ser) | Inborn genetic diseases [RCV002555683]|not provided [RCV001907076] | uncertain significance | 16 | 77295003 | 77295003 | Human | 1 | name |
| 151875121 | CV1486744 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1615G>A (p.Asp539Asn) | not provided [RCV001906970] | uncertain significance | 16 | 77341799 | 77341799 | Human | | name |
| 151788938 | CV1488957 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2359A>G (p.Ser787Gly) | not provided [RCV002010499] | uncertain significance | 16 | 77320022 | 77320022 | Human | | name |
| 151778360 | CV1493314 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2419G>A (p.Asp807Asn) | not provided [RCV001915640] | uncertain significance | 16 | 77319962 | 77319962 | Human | | name |
| 151846157 | CV1495044 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2914C>G (p.His972Asp) | not provided [RCV001978305] | uncertain significance | 16 | 77295015 | 77295015 | Human | | name |
| 151779174 | CV1496788 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2641G>C (p.Val881Leu) | not provided [RCV001930268] | uncertain significance | 16 | 77300296 | 77300296 | Human | | name |
| 151753081 | CV1501099 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2987G>T (p.Ser996Ile) | not provided [RCV001969397] | uncertain significance | 16 | 77294942 | 77294942 | Human | | name |
| 151798476 | CV1503938 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1660G>A (p.Glu554Lys) | not provided [RCV001973687] | uncertain significance | 16 | 77341754 | 77341754 | Human | | name |
| 151833945 | CV1504859 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2203T>A (p.Ser735Thr) | not provided [RCV001976931] | uncertain significance | 16 | 77321163 | 77321163 | Human | | name |
| 151794964 | CV1506287 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2065G>A (p.Glu689Lys) | not provided [RCV001917171] | uncertain significance | 16 | 77322434 | 77322434 | Human | | name |
| 151751300 | CV1508379 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2076A>T (p.Glu692Asp) | not provided [RCV001986310] | uncertain significance | 16 | 77322423 | 77322423 | Human | | name |
| 151790845 | CV1509172 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1979G>C (p.Ser660Thr) | not provided [RCV001876498] | uncertain significance | 16 | 77325919 | 77325919 | Human | | name |
| 151795970 | CV1512595 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1252C>T (p.Arg418Ter) | not provided [RCV001866682] | pathogenic | 16 | 77359388 | 77359388 | Human | | name |
| 151872801 | CV1513555 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1898G>T (p.Arg633Leu) | not provided [RCV001940034] | uncertain significance | 16 | 77326000 | 77326000 | Human | | name |
| 151889855 | CV1514374 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2489G>A (p.Arg830His) | not provided [RCV001963512] | uncertain significance | 16 | 77319892 | 77319892 | Human | | name |
| 151889891 | CV1514388 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1079A>G (p.His360Arg) | not provided [RCV001963518] | uncertain significance | 16 | 77362242 | 77362242 | Human | | name |
| 151789232 | CV1515201 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2027T>C (p.Val676Ala) | Inborn genetic diseases [RCV004046880]|not provided [RCV002027055] | uncertain significance | 16 | 77325871 | 77325871 | Human | 1 | name |
| 151729811 | CV1515583 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1266C>G (p.Ile422Met) | not provided [RCV002041077] | uncertain significance | 16 | 77359374 | 77359374 | Human | | name |
| 151868087 | CV1516573 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1211C>T (p.Thr404Ile) | not provided [RCV001980953] | uncertain significance | 16 | 77362110 | 77362110 | Human | | name |
| 151888509 | CV1517142 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2717C>T (p.Thr906Ile) | not provided [RCV002038415] | uncertain significance | 16 | 77297373 | 77297373 | Human | | name |
| 155749318 | CV1775455 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2282C>G (p.Ala761Gly) | not provided [RCV002304525] | uncertain significance | 16 | 77321084 | 77321084 | Human | | name |
| 155712466 | CV1775904 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2363A>G (p.Tyr788Cys) | not provided [RCV002296258] | uncertain significance | 16 | 77320018 | 77320018 | Human | | name |
| 156398679 | CV1881131 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2708A>G (p.Asp903Gly) | not provided [RCV003068917] | uncertain significance | 16 | 77297382 | 77297382 | Human | | name |
| 156027259 | CV1906752 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1704G>C (p.Leu568Phe) | not provided [RCV003100485] | uncertain significance | 16 | 77341710 | 77341710 | Human | | name |
| 156359016 | CV1910558 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1147C>T (p.His383Tyr) | not provided [RCV002632542] | uncertain significance | 16 | 77362174 | 77362174 | Human | | name |
| 156132676 | CV1962779 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2914C>T (p.His972Tyr) | not provided [RCV002572288] | uncertain significance | 16 | 77295015 | 77295015 | Human | | name |
| 156406878 | CV1963807 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1580C>T (p.Ala527Val) | not provided [RCV002586046] | uncertain significance | 16 | 77353767 | 77353767 | Human | | name |
| 156315167 | CV1966854 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2871G>T (p.Gln957His) | not provided [RCV002578912] | uncertain significance | 16 | 77295058 | 77295058 | Human | | name |
| 156041536 | CV1967150 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1532C>T (p.Pro511Leu) | Inborn genetic diseases [RCV004065622]|not provided [RCV002590342] | uncertain significance | 16 | 77353815 | 77353815 | Human | 1 | name |
| 156385701 | CV1971965 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2722G>A (p.Val908Ile) | not provided [RCV002604277] | uncertain significance | 16 | 77297368 | 77297368 | Human | | name |
| 156245437 | CV1973404 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1658G>A (p.Cys553Tyr) | not provided [RCV002597292] | uncertain significance | 16 | 77341756 | 77341756 | Human | | name |
| 156146122 | CV1973834 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1807C>G (p.Arg603Gly) | not provided [RCV002593995] | uncertain significance | 16 | 77335808 | 77335808 | Human | | name |
| 156320500 | CV1976010 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1642C>T (p.Arg548Ter) | not provided [RCV002600200] | pathogenic | 16 | 77341772 | 77341772 | Human | | name |
| 156118200 | CV1982619 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2408G>T (p.Gly803Val) | not provided [RCV002622842] | uncertain significance | 16 | 77319973 | 77319973 | Human | | name |
| 156325641 | CV1985306 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2621C>T (p.Pro874Leu) | Inborn genetic diseases [RCV002635608]|not provided [RCV002649537] | uncertain significance | 16 | 77300316 | 77300316 | Human | 1 | name |
| 156076556 | CV1985692 | indel | NM_199355.4(ADAMTS18):c.973-11_973-10delinsAA | not provided [RCV002638761] | uncertain significance | 16 | 77363895 | 77363896 | Human | | name |
| 156352227 | CV1985720 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1808G>A (p.Arg603Gln) | Inborn genetic diseases [RCV004066632]|not provided [RCV002632060] | uncertain significance | 16 | 77335807 | 77335807 | Human | 1 | name |
| 156003912 | CV1988020 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2521C>G (p.Leu841Val) | not provided [RCV002618576] | uncertain significance | 16 | 77319860 | 77319860 | Human | | name |
| 156009057 | CV1989587 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1750G>A (p.Gly584Arg) | not provided [RCV002636126] | uncertain significance | 16 | 77335865 | 77335865 | Human | | name |
| 156389035 | CV1989943 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1600C>A (p.Leu534Ile) | not provided [RCV002604508] | uncertain significance | 16 | 77353747 | 77353747 | Human | | name |
| 156391812 | CV1990216 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2404G>A (p.Gly802Arg) | not provided [RCV002604739] | uncertain significance | 16 | 77319977 | 77319977 | Human | | name |
| 156128380 | CV1993159 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2576C>G (p.Ala859Gly) | not provided [RCV002623215] | uncertain significance | 16 | 77300361 | 77300361 | Human | | name |
| 156340267 | CV1994105 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1742G>C (p.Gly581Ala) | Inborn genetic diseases [RCV005321205]|not provided [RCV002650279] | uncertain significance | 16 | 77335873 | 77335873 | Human | 1 | name |
| 156387786 | CV1995935 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1717C>T (p.Arg573Trp) | not provided [RCV002654118] | uncertain significance | 16 | 77335898 | 77335898 | Human | | name |
| 156292928 | CV1998350 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1526A>G (p.Lys509Arg) | Inborn genetic diseases [RCV005308804]|not provided [RCV002670840] | uncertain significance | 16 | 77353821 | 77353821 | Human | 1 | name |
| 156131086 | CV1998420 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1898G>A (p.Arg633His) | not provided [RCV002663222] | uncertain significance | 16 | 77326000 | 77326000 | Human | | name |
| 156357941 | CV2006740 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2014C>T (p.Pro672Ser) | not provided [RCV002676053] | uncertain significance | 16 | 77325884 | 77325884 | Human | | name |
| 156290626 | CV2009666 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2755C>G (p.Pro919Ala) | not provided [RCV002715636] | uncertain significance | 16 | 77297335 | 77297335 | Human | | name |
| 156402600 | CV2010098 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2771A>G (p.Lys924Arg) | Inborn genetic diseases [RCV003348895]|not provided [RCV002726140] | uncertain significance | 16 | 77297319 | 77297319 | Human | 1 | name |
| 156177867 | CV2010447 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1032C>G (p.Ser344Arg) | not provided [RCV002710686] | uncertain significance | 16 | 77363826 | 77363826 | Human | | name |
| 155951669 | CV2014027 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2432A>G (p.Glu811Gly) | not provided [RCV002686055] | uncertain significance | 16 | 77319949 | 77319949 | Human | | name |
| 156008493 | CV2015178 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2312C>T (p.Pro771Leu) | not provided [RCV002690386] | uncertain significance | 16 | 77320069 | 77320069 | Human | | name |
| 156394706 | CV2015831 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1708A>G (p.Met570Val) | not provided [RCV002725427] | uncertain significance | 16 | 77341706 | 77341706 | Human | | name |
| 156374138 | CV2028367 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1656G>T (p.Arg552Ser) | not provided [RCV002721770] | uncertain significance | 16 | 77341758 | 77341758 | Human | | name |
| 155912202 | CV2029488 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1514A>C (p.Lys505Thr) | not provided [RCV002750224] | uncertain significance | 16 | 77353833 | 77353833 | Human | | name |
| 156369621 | CV2030993 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2759T>C (p.Val920Ala) | not provided [RCV002721425] | uncertain significance | 16 | 77297331 | 77297331 | Human | | name |
| 155988652 | CV2053012 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2421C>G (p.Asp807Glu) | not provided [RCV002819100] | uncertain significance | 16 | 77319960 | 77319960 | Human | | name |
| 156008150 | CV2054441 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1939A>G (p.Ser647Gly) | not provided [RCV002819979] | uncertain significance | 16 | 77325959 | 77325959 | Human | | name |
| 156235273 | CV2056250 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1859A>C (p.Lys620Thr) | not provided [RCV002791148] | uncertain significance | 16 | 77335756 | 77335756 | Human | | name |
| 156375819 | CV2059409 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2132A>G (p.Lys711Arg) | not provided [RCV002814680] | uncertain significance | 16 | 77322367 | 77322367 | Human | | name |
| 156308804 | CV2067120 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2863A>G (p.Lys955Glu) | not provided [RCV002833998] | uncertain significance | 16 | 77295066 | 77295066 | Human | | name |
| 155979848 | CV2073305 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1318C>T (p.His440Tyr) | not provided [RCV002842463] | uncertain significance | 16 | 77359322 | 77359322 | Human | | name |
| 156207338 | CV2074075 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1957C>G (p.Gln653Glu) | not provided [RCV002829168] | uncertain significance | 16 | 77325941 | 77325941 | Human | | name |
| 156110804 | CV2077739 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2204C>G (p.Ser735Ter) | not provided [RCV002889180] | pathogenic | 16 | 77321162 | 77321162 | Human | | name |
| 156199517 | CV2083275 | deletion | NM_199355.4(ADAMTS18):c.3427del (p.Val1143fs) | not provided [RCV002852415] | uncertain significance | 16 | 77289387 | 77289387 | Human | | name |
| 156232808 | CV2093898 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2138A>T (p.Asp713Val) | not provided [RCV002894618] | uncertain significance | 16 | 77322361 | 77322361 | Human | | name |
| 155998417 | CV2106611 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1046A>G (p.Glu349Gly) | not provided [RCV002947669] | uncertain significance | 16 | 77363812 | 77363812 | Human | | name |
| 156334719 | CV2109150 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1226C>T (p.Pro409Leu) | not provided [RCV002938564] | uncertain significance | 16 | 77359414 | 77359414 | Human | | name |
| 156217395 | CV2111066 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1357T>C (p.Cys453Arg) | not provided [RCV002932317] | uncertain significance | 16 | 77356043 | 77356043 | Human | | name |
| 155943731 | CV2111300 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2891T>C (p.Phe964Ser) | not provided [RCV002904643] | uncertain significance | 16 | 77295038 | 77295038 | Human | | name |
| 156117412 | CV2115777 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2690A>G (p.Lys897Arg) | not provided [RCV002927676] | uncertain significance | 16 | 77297400 | 77297400 | Human | | name |
| 156010485 | CV2126848 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1951C>T (p.Arg651Trp) | not provided [RCV002975620] | uncertain significance | 16 | 77325947 | 77325947 | Human | | name |
| 156139787 | CV2129447 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2651A>C (p.Glu884Ala) | not provided [RCV002954185] | uncertain significance | 16 | 77300286 | 77300286 | Human | | name |
| 155975889 | CV2136124 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1625A>C (p.Lys542Thr) | not provided [RCV002995849] | uncertain significance | 16 | 77341789 | 77341789 | Human | | name |
| 156162194 | CV2136879 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2436C>G (p.Phe812Leu) | not provided [RCV003005107] | uncertain significance | 16 | 77319945 | 77319945 | Human | | name |
| 156317551 | CV2137823 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2443G>T (p.Ala815Ser) | not provided [RCV002962993] | uncertain significance | 16 | 77319938 | 77319938 | Human | | name |
| 155946168 | CV2139454 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2387A>G (p.Gln796Arg) | Inborn genetic diseases [RCV004065286]|not provided [RCV002994355] | uncertain significance | 16 | 77319994 | 77319994 | Human | 1 | name |
| 156027183 | CV2145788 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2348A>G (p.Gln783Arg) | not provided [RCV003018514] | uncertain significance | 16 | 77320033 | 77320033 | Human | | name |
| 155936817 | CV2146247 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1673T>C (p.Met558Thr) | not provided [RCV003013998] | uncertain significance | 16 | 77341741 | 77341741 | Human | | name |
| 156122958 | CV2147313 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2364C>G (p.Tyr788Ter) | not provided [RCV003021871] | pathogenic | 16 | 77320017 | 77320017 | Human | | name |
| 156160589 | CV2147350 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1169C>G (p.Thr390Arg) | not provided [RCV003023180] | uncertain significance | 16 | 77362152 | 77362152 | Human | | name |
| 156019527 | CV2151756 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2765A>C (p.Glu922Ala) | not provided [RCV003018161] | uncertain significance | 16 | 77297325 | 77297325 | Human | | name |
| 156178835 | CV2162521 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2010G>C (p.Trp670Cys) | not provided [RCV003023762] | uncertain significance | 16 | 77325888 | 77325888 | Human | | name |
| 156335237 | CV2168323 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2749A>G (p.Thr917Ala) | not provided [RCV003029985] | uncertain significance | 16 | 77297341 | 77297341 | Human | | name |
| 156371251 | CV2168617 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2821A>G (p.Ser941Gly) | not provided [RCV003032247] | uncertain significance | 16 | 77295108 | 77295108 | Human | | name |
| 156218785 | CV2172026 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1771C>A (p.Gln591Lys) | not provided [RCV003042633] | uncertain significance | 16 | 77335844 | 77335844 | Human | | name |
| 156136215 | CV2181552 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2636G>C (p.Ser879Thr) | not provided [RCV003039875] | uncertain significance | 16 | 77300301 | 77300301 | Human | | name |
| 156259536 | CV2181629 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1268A>T (p.Asn423Ile) | not provided [RCV003044070] | uncertain significance | 16 | 77359372 | 77359372 | Human | | name |
| 156045378 | CV2186407 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2110G>A (p.Gly704Arg) | not provided [RCV003036722] | uncertain significance | 16 | 77322389 | 77322389 | Human | | name |
| 156301799 | CV2189609 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1902T>G (p.Ile634Met) | not provided [RCV003061998] | uncertain significance | 16 | 77325996 | 77325996 | Human | | name |
| 156301385 | CV2248974 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1007G>C (p.Ser336Thr) | Inborn genetic diseases [RCV002808136] | uncertain significance | 16 | 77363851 | 77363851 | Human | 1 | name |
| 156099959 | CV2250714 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2209G>A (p.Ala737Thr) | Inborn genetic diseases [RCV002799059] | uncertain significance | 16 | 77321157 | 77321157 | Human | 1 | name |
| 156255313 | CV2264722 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2170G>A (p.Gly724Arg) | Inborn genetic diseases [RCV002831368] | uncertain significance | 16 | 77321196 | 77321196 | Human | 1 | name |
| 156045715 | CV2268620 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2368G>T (p.Ala790Ser) | Inborn genetic diseases [RCV002822021] | uncertain significance | 16 | 77320013 | 77320013 | Human | 1 | name |
| 156073972 | CV2281408 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2578C>T (p.Leu860Phe) | Inborn genetic diseases [RCV002868865] | uncertain significance | 16 | 77300359 | 77300359 | Human | 1 | name |
| 155941459 | CV2294254 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2845G>A (p.Gly949Arg) | Inborn genetic diseases [RCV002879702] | uncertain significance | 16 | 77295084 | 77295084 | Human | 1 | name |
| 155907508 | CV2302229 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2360G>C (p.Ser787Thr) | Inborn genetic diseases [RCV002902031] | uncertain significance | 16 | 77320021 | 77320021 | Human | 1 | name |
| 156260209 | CV2305059 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1472C>T (p.Ala491Val) | Inborn genetic diseases [RCV002920450] | uncertain significance | 16 | 77353875 | 77353875 | Human | 1 | name |
| 155938447 | CV2380753 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1406A>G (p.Asn469Ser) | Inborn genetic diseases [RCV002729826] | uncertain significance | 16 | 77355994 | 77355994 | Human | 1 | name |
| 156162548 | CV2395714 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2479C>T (p.Arg827Cys) | Inborn genetic diseases [RCV002764812] | uncertain significance | 16 | 77319902 | 77319902 | Human | 1 | name |
| 243062523 | CV2404969 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1455C>A (p.Phe485Leu) | Microcornea-myopic chorioretinal atrophy [RCV003225801] | uncertain significance | 16 | 77355945 | 77355945 | Human | 1 | name |
| 329392468 | CV2468136 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1856C>G (p.Pro619Arg) | Inborn genetic diseases [RCV003217786] | uncertain significance | 16 | 77335759 | 77335759 | Human | 1 | name |
| 401732744 | CV2691096 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1484T>C (p.Val495Ala) | Inborn genetic diseases [RCV003290270] | uncertain significance | 16 | 77353863 | 77353863 | Human | 1 | name |
| 401771809 | CV2693525 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1235G>C (p.Gly412Ala) | Inborn genetic diseases [RCV003284838] | uncertain significance | 16 | 77359405 | 77359405 | Human | 1 | name |
| 401749304 | CV2694612 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1037T>C (p.Ile346Thr) | Inborn genetic diseases [RCV003253287] | uncertain significance | 16 | 77363821 | 77363821 | Human | 1 | name |
| 401717841 | CV2703431 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1801T>C (p.Cys601Arg) | Inborn genetic diseases [RCV003242854] | uncertain significance | 16 | 77335814 | 77335814 | Human | 1 | name |
| 401749901 | CV2704794 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2620C>T (p.Pro874Ser) | Inborn genetic diseases [RCV003276591] | uncertain significance | 16 | 77300317 | 77300317 | Human | 1 | name |
| 401763159 | CV2707549 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1465C>A (p.Pro489Thr) | Inborn genetic diseases [RCV003281437] | uncertain significance | 16 | 77353882 | 77353882 | Human | 1 | name |
| 401749247 | CV2708518 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1121C>A (p.Ala374Asp) | Inborn genetic diseases [RCV003294841] | uncertain significance | 16 | 77362200 | 77362200 | Human | 1 | name |
| 401777434 | CV2721719 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2006A>C (p.Gln669Pro) | Inborn genetic diseases [RCV003263543] | uncertain significance | 16 | 77325892 | 77325892 | Human | 1 | name |
| 401894240 | CV2770398 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2341G>A (p.Glu781Lys) | Inborn genetic diseases [RCV003371233] | uncertain significance | 16 | 77320040 | 77320040 | Human | 1 | name |
| 401874417 | CV2773951 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1399G>A (p.Gly467Arg) | Inborn genetic diseases [RCV003362251] | uncertain significance | 16 | 77356001 | 77356001 | Human | 1 | name |
| 401894894 | CV2782041 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1339G>A (p.Asp447Asn) | Inborn genetic diseases [RCV003371981] | uncertain significance | 16 | 77356061 | 77356061 | Human | 1 | name |
| 402483882 | CV2998177 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1136A>G (p.Asn379Ser) | not provided [RCV003686876] | uncertain significance | 16 | 77362185 | 77362185 | Human | | name |
| 402516573 | CV3135854 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1018G>A (p.Val340Met) | not provided [RCV003824480] | uncertain significance | 16 | 77363840 | 77363840 | Human | | name |
| 405684236 | CV3235503 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2365C>A (p.Leu789Ile) | Inborn genetic diseases [RCV004372017] | uncertain significance | 16 | 77320016 | 77320016 | Human | 1 | name |
| 405684424 | CV3235541 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2591T>C (p.Met864Thr) | Inborn genetic diseases [RCV004372055] | likely benign | 16 | 77300346 | 77300346 | Human | 1 | name |
| 405684440 | CV3235544 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2618G>T (p.Arg873Ile) | Inborn genetic diseases [RCV004372058] | uncertain significance | 16 | 77300319 | 77300319 | Human | 1 | name |
| 405684748 | CV3235581 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2797G>C (p.Ala933Pro) | Inborn genetic diseases [RCV004372095] | uncertain significance | 16 | 77297293 | 77297293 | Human | 1 | name |
| 405656843 | CV3305429 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1115A>G (p.Gln372Arg) | Inborn genetic diseases [RCV004437710] | uncertain significance | 16 | 77362206 | 77362206 | Human | 1 | name |
| 405657056 | CV3305486 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1946A>T (p.Asp649Val) | Inborn genetic diseases [RCV004437767] | uncertain significance | 16 | 77325952 | 77325952 | Human | 1 | name |
| 407450898 | CV3422652 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1324T>G (p.Phe442Val) | Inborn genetic diseases [RCV004607848] | uncertain significance | 16 | 77356076 | 77356076 | Human | 1 | name |
| 407455385 | CV3422664 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2375G>A (p.Arg792Gln) | Inborn genetic diseases [RCV004610292] | uncertain significance | 16 | 77320006 | 77320006 | Human | 1 | name |
| 407455431 | CV3422685 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2482C>G (p.Pro828Ala) | Inborn genetic diseases [RCV004610313] | uncertain significance | 16 | 77319899 | 77319899 | Human | 1 | name |
| 597655397 | CV3645219 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2116C>T (p.Pro706Ser) | Inborn genetic diseases [RCV004976370] | uncertain significance | 16 | 77322383 | 77322383 | Human | 1 | name |
| 597631666 | CV3645233 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2350G>T (p.Val784Phe) | Inborn genetic diseases [RCV004967767] | uncertain significance | 16 | 77320031 | 77320031 | Human | 1 | name |
| 597655417 | CV3645269 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1715G>C (p.Cys572Ser) | Inborn genetic diseases [RCV004976374] | uncertain significance | 16 | 77335900 | 77335900 | Human | 1 | name |
| 597655307 | CV3648948 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1739T>G (p.Phe580Cys) | Inborn genetic diseases [RCV004976355] | uncertain significance | 16 | 77335876 | 77335876 | Human | 1 | name |
| 597631663 | CV3648996 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1520C>T (p.Pro507Leu) | Inborn genetic diseases [RCV004967766] | uncertain significance | 16 | 77353827 | 77353827 | Human | 1 | name |
| 597655356 | CV3649007 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1475G>C (p.Gly492Ala) | Inborn genetic diseases [RCV004976363] | uncertain significance | 16 | 77353872 | 77353872 | Human | 1 | name |
| 597655380 | CV3649061 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2077T>A (p.Phe693Ile) | Inborn genetic diseases [RCV004976367] | uncertain significance | 16 | 77322422 | 77322422 | Human | 1 | name |
| 597830828 | CV3739486 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1844A>G (p.His615Arg) | not provided [RCV005062376] | uncertain significance | 16 | 77335771 | 77335771 | Human | | name |
| 597886109 | CV3787367 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1201C>A (p.Pro401Thr) | not provided [RCV005124933] | uncertain significance | 16 | 77362120 | 77362120 | Human | | name |
| 597901059 | CV3796656 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1520C>A (p.Pro507Gln) | not provided [RCV005152738] | uncertain significance | 16 | 77353827 | 77353827 | Human | | name |
| 597835829 | CV3828304 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1399G>T (p.Gly467Ter) | not provided [RCV005171196] | pathogenic | 16 | 77356001 | 77356001 | Human | | name |
| 598179247 | CV3943666 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2020A>G (p.Thr674Ala) | Inborn genetic diseases [RCV005310480] | uncertain significance | 16 | 77325878 | 77325878 | Human | 1 | name |
| 598239937 | CV3943697 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2066A>G (p.Glu689Gly) | Inborn genetic diseases [RCV005321305] | uncertain significance | 16 | 77322433 | 77322433 | Human | 1 | name |
| 598179454 | CV3943716 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2420A>C (p.Asp807Ala) | Inborn genetic diseases [RCV005310517] | uncertain significance | 16 | 77319961 | 77319961 | Human | 1 | name |
| 598179495 | CV3943727 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1159A>G (p.Ile387Val) | Inborn genetic diseases [RCV005310525] | uncertain significance | 16 | 77362162 | 77362162 | Human | 1 | name |
| 598179550 | CV3943738 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1794G>T (p.Trp598Cys) | Inborn genetic diseases [RCV005310534] | uncertain significance | 16 | 77335821 | 77335821 | Human | 1 | name |
| 15185835 | CV740356 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2488C>T (p.Arg830Cys) | ADAMTS18-related disorder [RCV004753106]|not provided [RCV000908638] | likely benign | 16 | 77319893 | 77319893 | Human | 1 | name , alternate_id |
| 15173003 | CV740359 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1646T>C (p.Val549Ala) | not provided [RCV000905781] | likely benign | 16 | 77341768 | 77341768 | Human | | name |
| 15197646 | CV755394 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2954C>G (p.Ala985Gly) | ADAMTS18-related disorder [RCV003902900]|not provided [RCV000912031] | likely benign | 16 | 77294975 | 77294975 | Human | 1 | name , alternate_id |
| 8621906 | CV76945 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1731C>G (p.Cys577Trp) | Microcornea-myopic chorioretinal atrophy [RCV000056278] | pathogenic|uncertain significance | 16 | 77335884 | 77335884 | Human | 1 | name |
| 8621907 | CV76946 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2065G>T (p.Glu689Ter) | Microcornea-myopic chorioretinal atrophy [RCV000056279] | pathogenic | 16 | 77322434 | 77322434 | Human | 1 | name |
| 26921141 | CV844306 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2977C>T (p.Pro993Ser) | not provided [RCV001049328] | uncertain significance | 16 | 77294952 | 77294952 | Human | | name |
| 26919142 | CV844307 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2756C>T (p.Pro919Leu) | not provided [RCV001044893] | uncertain significance | 16 | 77297334 | 77297334 | Human | | name |
| 26918490 | CV844308 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2752A>G (p.Lys918Glu) | Inborn genetic diseases [RCV002552537]|Microcornea-myopic chorioretinal atrophy [RCV003141961]|Retinal dystrophy [RCV004813584]|Retinitis pigmentosa [RCV001593211]|not provided [RCV001043787] | likely benign|uncertain significance | 16 | 77297338 | 77297338 | Human | 6 | name |
| 26888442 | CV844309 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2558G>C (p.Gly853Ala) | not provided [RCV001057431] | uncertain significance | 16 | 77300379 | 77300379 | Human | | name |
| 26915666 | CV844310 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2489G>C (p.Arg830Pro) | not provided [RCV001039287] | uncertain significance | 16 | 77319892 | 77319892 | Human | | name |
| 26904547 | CV844311 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2483C>G (p.Pro828Arg) | Inborn genetic diseases [RCV005306274]|not provided [RCV001070861] | uncertain significance | 16 | 77319898 | 77319898 | Human | 1 | name |
| 26886815 | CV844312 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2480G>T (p.Arg827Leu) | Retinal dystrophy [RCV004813638]|not provided [RCV001055458] | uncertain significance | 16 | 77319901 | 77319901 | Human | 2 | name |
| 26921751 | CV844313 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2425C>A (p.Pro809Thr) | not provided [RCV001050675] | uncertain significance | 16 | 77319956 | 77319956 | Human | | name |
| 26916375 | CV844314 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2380C>G (p.Leu794Val) | ADAMTS18-related disorder [RCV003906152]|not provided [RCV001040274] | likely benign|uncertain significance | 16 | 77320001 | 77320001 | Human | 1 | name , alternate_id |
| 26889145 | CV844315 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2095G>A (p.Gly699Ser) | not provided [RCV001057959] | uncertain significance | 16 | 77322404 | 77322404 | Human | | name |
| 26891806 | CV844316 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2026G>T (p.Val676Leu) | Inborn genetic diseases [RCV002553898]|not provided [RCV001060932] | uncertain significance | 16 | 77325872 | 77325872 | Human | 1 | name |
| 26919837 | CV844317 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1985C>G (p.Pro662Arg) | Microcornea-myopic chorioretinal atrophy [RCV002505582]|not provided [RCV001046484] | uncertain significance | 16 | 77325913 | 77325913 | Human | 1 | name |
| 26901125 | CV844318 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1916A>G (p.Asn639Ser) | Retinal dystrophy [RCV004813703]|not provided [RCV001068300] | uncertain significance | 16 | 77325982 | 77325982 | Human | 2 | name |
| 26919490 | CV844319 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1073A>G (p.Asn358Ser) | Inborn genetic diseases [RCV002552585]|not provided [RCV001045643] | uncertain significance | 16 | 77362248 | 77362248 | Human | 1 | name |
| 8635915 | CV91138 | single nucleotide variant | NM_199355.2(ADAMTS18):c.2710C>T (p.Gln904Ter) | Malignant melanoma [RCV000071236] | not provided | 16 | 77297380 | 77297380 | Human | | name |
| 8635916 | CV91139 | single nucleotide variant | NM_199355.2(ADAMTS18):c.2530G>A (p.Glu844Lys) | Malignant melanoma [RCV000071237] | not provided | 16 | 77319851 | 77319851 | Human | | name |
| 8635919 | CV91142 | single nucleotide variant | NM_199355.2(ADAMTS18):c.2081T>A (p.Phe694Tyr) | Malignant melanoma [RCV000071240] | not provided | 16 | 77322418 | 77322418 | Human | | name |
| 8635920 | CV91143 | single nucleotide variant | NM_199355.2(ADAMTS18):c.1912T>A (p.Cys638Ser) | Malignant melanoma [RCV000071241] | not provided | 16 | 77325986 | 77325986 | Human | | name |
| 8635921 | CV91144 | single nucleotide variant | NM_199355.2(ADAMTS18):c.1354C>T (p.Pro452Ser) | Malignant melanoma [RCV000071242] | not provided | 16 | 77356046 | 77356046 | Human | | name |
| 38484355 | CV927948 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2110G>T (p.Gly704Ter) | not provided [RCV001219369] | pathogenic | 16 | 77322389 | 77322389 | Human | | name |
| 38489567 | CV927949 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1640A>T (p.His547Leu) | Inborn genetic diseases [RCV003163706]|not provided [RCV001221762] | uncertain significance | 16 | 77341774 | 77341774 | Human | 1 | name |
| 38491160 | CV927950 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1135A>C (p.Asn379His) | Inborn genetic diseases [RCV003363183]|not provided [RCV001222644] | uncertain significance | 16 | 77362186 | 77362186 | Human | 1 | name |
| 38474076 | CV937609 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2985G>T (p.Trp995Cys) | not provided [RCV001203663] | uncertain significance | 16 | 77294944 | 77294944 | Human | | name |
| 38489373 | CV937610 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2721A>C (p.Gln907His) | not provided [RCV001210180] | uncertain significance | 16 | 77297369 | 77297369 | Human | | name |
| 38485509 | CV937611 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2453C>A (p.Thr818Lys) | not provided [RCV001208511] | uncertain significance | 16 | 77319928 | 77319928 | Human | | name |
| 38471959 | CV937612 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1810A>G (p.Thr604Ala) | not provided [RCV001213915] | uncertain significance | 16 | 77335805 | 77335805 | Human | | name |
| 38470225 | CV937613 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1574T>A (p.Phe525Tyr) | not provided [RCV001202539] | uncertain significance | 16 | 77353773 | 77353773 | Human | | name |
| 38474556 | CV937614 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1071C>G (p.Ile357Met) | not provided [RCV001203867] | uncertain significance | 16 | 77362250 | 77362250 | Human | | name |
| 38483054 | CV937615 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1039C>T (p.Leu347Phe) | not provided [RCV001207499] | uncertain significance | 16 | 77363819 | 77363819 | Human | | name |
| 38475415 | CV949564 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2939C>A (p.Pro980His) | not provided [RCV001232627] | uncertain significance | 16 | 77294990 | 77294990 | Human | | name |
| 38489203 | CV949565 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2660T>C (p.Val887Ala) | not provided [RCV001238315] | uncertain significance | 16 | 77300277 | 77300277 | Human | | name |
| 38475745 | CV949566 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2592G>A (p.Met864Ile) | not provided [RCV001232764] | uncertain significance | 16 | 77300345 | 77300345 | Human | | name |
| 38469365 | CV949567 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2468G>A (p.Arg823His) | not provided [RCV001230762] | uncertain significance | 16 | 77319913 | 77319913 | Human | | name |
| 38469333 | CV949568 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2412G>C (p.Trp804Cys) | not provided [RCV001230758] | uncertain significance | 16 | 77319969 | 77319969 | Human | | name |
| 38496566 | CV949569 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2311C>G (p.Pro771Ala) | not provided [RCV001226476] | uncertain significance | 16 | 77320070 | 77320070 | Human | | name |
| 38495083 | CV949570 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1897C>T (p.Arg633Cys) | Inborn genetic diseases [RCV002563080]|not provided [RCV001225490] | uncertain significance | 16 | 77326001 | 77326001 | Human | 1 | name |
| 38473193 | CV949571 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1552G>C (p.Asp518His) | not provided [RCV001231711] | uncertain significance | 16 | 77353795 | 77353795 | Human | | name |
| 38476395 | CV949572 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1211C>G (p.Thr404Ser) | not provided [RCV001233056] | uncertain significance | 16 | 77362110 | 77362110 | Human | | name |
| 38491133 | CV957876 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2712A>C (p.Gln904His) | not provided [RCV001239262] | uncertain significance | 16 | 77297378 | 77297378 | Human | | name |
| 38500151 | CV957877 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1757G>A (p.Arg586Gln) | not provided [RCV001245611] | uncertain significance | 16 | 77335858 | 77335858 | Human | | name |
| 38460147 | CV957878 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1332G>A (p.Met444Ile) | not provided [RCV001246693] | uncertain significance | 16 | 77356068 | 77356068 | Human | | name |
| 127278006 | CV1082429 | single nucleotide variant | NM_199355.4(ADAMTS18):c.1979G>A (p.Ser660Asn) | ADAMTS18-related disorder [RCV003963293]|not provided [RCV001408212] | likely benign | 16 | 77325919 | 77325919 | Human | 1 | name , alternate_id |
| 127251471 | CV1104221 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3262C>A (p.Leu1088Met) | ADAMTS18-related disorder [RCV003965801]|Inborn genetic diseases [RCV004980466]|not provided [RCV001425604] | likely benign|uncertain significance | 16 | 77291406 | 77291406 | Human | 2 | alternate_id |
| 127327911 | CV1125625 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3290G>A (p.Arg1097His) | ADAMTS18-related disorder [RCV003946220]|not provided [RCV001469322] | likely benign | 16 | 77291378 | 77291378 | Human | 1 | alternate_id |
| 127308148 | CV1125633 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2618G>C (p.Arg873Thr) | ADAMTS18-related disorder [RCV004753333]|Inborn genetic diseases [RCV004980515]|not provided [RCV001455992] | likely benign|uncertain significance | 16 | 77300319 | 77300319 | Human | 2 | alternate_id |
| 127297142 | CV1157849 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2480G>A (p.Arg827His) | ADAMTS18-related disorder [RCV003940904]|Inborn genetic diseases [RCV002568020]|not provided [RCV001512769] | benign|likely benign | 16 | 77319901 | 77319901 | Human | 2 | alternate_id |
| 15118768 | CV715083 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2868C>G (p.Ile956Met) | ADAMTS18-related disorder [RCV003916076]|not provided [RCV000962435] | benign|likely benign | 16 | 77295061 | 77295061 | Human | 1 | alternate_id |
| 15140446 | CV740354 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3157C>T (p.Arg1053Trp) | ADAMTS18-related disorder [RCV003910717]|Microcornea-myopic chorioretinal atrophy [RCV003141892]|Retinitis pigmentosa [RCV001593127]|not provided [RCV000899321] | benign|likely benign|uncertain significance | 16 | 77293108 | 77293108 | Human | 3 | alternate_id |
| 15154426 | CV755393 | single nucleotide variant | NM_199355.4(ADAMTS18):c.3628G>A (p.Gly1210Arg) | ADAMTS18-related disorder [RCV004753117]|not provided [RCV000924257] | likely benign | 16 | 77283994 | 77283994 | Human | 1 | alternate_id |
| 127312825 | CV1157852 | single nucleotide variant | NM_199355.4(ADAMTS18):c.2305C>A (p.Leu769Ile) | not provided [RCV001519074] | benign | 16 | 77320076 | 77320076 | Human | | name |