| 405687497 | CV3236336 | single nucleotide variant | NM_007037.6(ADAMTS8):c.13C>T (p.Pro5Ser) | not specified [RCV004372660] | uncertain significance | 11 | 130428274 | 130428274 | Human | | name |
| 405688043 | CV3245988 | single nucleotide variant | NM_007037.6(ADAMTS8):c.35C>T (p.Pro12Leu) | not specified [RCV004372748] | uncertain significance | 11 | 130428252 | 130428252 | Human | | name |
| 597797914 | CV3656297 | single nucleotide variant | NM_007037.6(ADAMTS8):c.73C>T (p.Arg25Cys) | not specified [RCV004904526] | uncertain significance | 11 | 130428214 | 130428214 | Human | | name |
| 156171472 | CV2198014 | single nucleotide variant | NM_007037.6(ADAMTS8):c.205G>T (p.Ala69Ser) | not specified [RCV004077220] | uncertain significance | 11 | 130428082 | 130428082 | Human | | name |
| 156151832 | CV2198015 | single nucleotide variant | NM_007037.6(ADAMTS8):c.206C>T (p.Ala69Val) | not specified [RCV004077221] | uncertain significance | 11 | 130428081 | 130428081 | Human | | name |
| 156206466 | CV2307735 | single nucleotide variant | NM_007037.6(ADAMTS8):c.292C>G (p.Arg98Gly) | not specified [RCV004168429] | uncertain significance | 11 | 130427995 | 130427995 | Human | | name |
| 156277103 | CV2352005 | single nucleotide variant | NM_007037.6(ADAMTS8):c.186G>C (p.Lys62Asn) | not specified [RCV004191104] | uncertain significance | 11 | 130428101 | 130428101 | Human | | name |
| 156007306 | CV2394345 | single nucleotide variant | NM_007037.6(ADAMTS8):c.100G>T (p.Gly34Trp) | not specified [RCV004238565] | uncertain significance | 11 | 130428187 | 130428187 | Human | | name |
| 329386767 | CV2452501 | single nucleotide variant | NM_007037.6(ADAMTS8):c.192C>A (p.Phe64Leu) | not specified [RCV004273101] | uncertain significance | 11 | 130428095 | 130428095 | Human | | name |
| 401776847 | CV2711422 | single nucleotide variant | NM_007037.6(ADAMTS8):c.104G>A (p.Gly35Glu) | not specified [RCV004313172] | uncertain significance | 11 | 130428183 | 130428183 | Human | | name |
| 401724705 | CV2714937 | single nucleotide variant | NM_007037.6(ADAMTS8):c.224T>A (p.Leu75Gln) | not specified [RCV004322265] | uncertain significance | 11 | 130428063 | 130428063 | Human | | name |
| 401905766 | CV2810025 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1449G>A (p.Glu483=) | not provided [RCV003396091] | likely benign | 11 | 130414648 | 130414648 | Human | | name |
| 405687537 | CV3236343 | single nucleotide variant | NM_007037.6(ADAMTS8):c.146G>A (p.Ser49Asn) | not specified [RCV004372667] | uncertain significance | 11 | 130428141 | 130428141 | Human | | name |
| 405687948 | CV3245968 | single nucleotide variant | NM_007037.6(ADAMTS8):c.254G>C (p.Gly85Ala) | not specified [RCV004372728] | uncertain significance | 11 | 130428033 | 130428033 | Human | | name |
| 597797861 | CV3656243 | single nucleotide variant | NM_007037.6(ADAMTS8):c.170T>A (p.Leu57Gln) | not specified [RCV004904508] | uncertain significance | 11 | 130428117 | 130428117 | Human | | name |
| 597797908 | CV3656278 | single nucleotide variant | NM_007037.6(ADAMTS8):c.269C>A (p.Ala90Glu) | not specified [RCV004904524] | uncertain significance | 11 | 130428018 | 130428018 | Human | | name |
| 597797923 | CV3656326 | single nucleotide variant | NM_007037.6(ADAMTS8):c.100G>A (p.Gly34Arg) | not specified [RCV004904529] | uncertain significance | 11 | 130428187 | 130428187 | Human | | name |
| 597798168 | CV3656336 | single nucleotide variant | NM_007037.6(ADAMTS8):c.232G>A (p.Glu78Lys) | not specified [RCV004904533] | uncertain significance | 11 | 130428055 | 130428055 | Human | | name |
| 8633940 | CV89156 | single nucleotide variant | NM_007037.4(ADAMTS8):c.2307C>T (p.Ser769=) | Malignant melanoma [RCV000069253] | not provided | 11 | 130405921 | 130405921 | Human | | name |
| 156038748 | CV2278961 | single nucleotide variant | NM_007037.6(ADAMTS8):c.722A>G (p.Asn241Ser) | not specified [RCV004145653] | uncertain significance | 11 | 130419291 | 130419291 | Human | | name |
| 156106779 | CV2307702 | single nucleotide variant | NM_007037.6(ADAMTS8):c.370G>A (p.Gly124Ser) | not specified [RCV004168111] | uncertain significance | 11 | 130427917 | 130427917 | Human | | name |
| 156354000 | CV2324188 | single nucleotide variant | NM_007037.6(ADAMTS8):c.938C>T (p.Thr313Met) | not specified [RCV004176930] | uncertain significance | 11 | 130419075 | 130419075 | Human | | name |
| 156084600 | CV2343286 | single nucleotide variant | NM_007037.6(ADAMTS8):c.623C>G (p.Thr208Arg) | not specified [RCV004194907] | uncertain significance | 11 | 130427664 | 130427664 | Human | | name |
| 156080350 | CV2384629 | single nucleotide variant | NM_007037.6(ADAMTS8):c.568A>G (p.Ser190Gly) | not specified [RCV004232411] | likely benign | 11 | 130427719 | 130427719 | Human | | name |
| 329387792 | CV2470989 | single nucleotide variant | NM_007037.6(ADAMTS8):c.440C>T (p.Pro147Leu) | not specified [RCV004276169] | uncertain significance | 11 | 130427847 | 130427847 | Human | | name |
| 401878146 | CV2777728 | single nucleotide variant | NM_007037.6(ADAMTS8):c.712G>A (p.Asp238Asn) | not specified [RCV004345563] | uncertain significance | 11 | 130427575 | 130427575 | Human | | name |
| 401877941 | CV2786873 | single nucleotide variant | NM_007037.6(ADAMTS8):c.463C>T (p.Pro155Ser) | not specified [RCV004366025] | uncertain significance | 11 | 130427824 | 130427824 | Human | | name |
| 405689136 | CV3246003 | single nucleotide variant | NM_007037.6(ADAMTS8):c.553G>A (p.Asp185Asn) | not specified [RCV004372763] | uncertain significance | 11 | 130427734 | 130427734 | Human | | name |
| 405688552 | CV3246014 | single nucleotide variant | NM_007037.6(ADAMTS8):c.572A>C (p.Gln191Pro) | not specified [RCV004372774] | uncertain significance | 11 | 130427715 | 130427715 | Human | | name |
| 405688083 | CV3246020 | single nucleotide variant | NM_007037.6(ADAMTS8):c.706G>A (p.Gly236Arg) | not specified [RCV004372780] | uncertain significance | 11 | 130427581 | 130427581 | Human | | name |
| 405688131 | CV3246030 | single nucleotide variant | NM_007037.6(ADAMTS8):c.740T>C (p.Met247Thr) | not specified [RCV004372790] | uncertain significance | 11 | 130419273 | 130419273 | Human | | name |
| 405688143 | CV3246033 | single nucleotide variant | NM_007037.6(ADAMTS8):c.772A>G (p.Ser258Gly) | not specified [RCV004372793] | uncertain significance | 11 | 130419241 | 130419241 | Human | | name |
| 407463360 | CV3429346 | single nucleotide variant | NM_007037.6(ADAMTS8):c.455G>T (p.Arg152Leu) | not specified [RCV004613200] | uncertain significance | 11 | 130427832 | 130427832 | Human | | name |
| 407463400 | CV3429356 | single nucleotide variant | NM_007037.6(ADAMTS8):c.488G>A (p.Arg163Gln) | not specified [RCV004613210] | uncertain significance | 11 | 130427799 | 130427799 | Human | | name |
| 407463446 | CV3429367 | single nucleotide variant | NM_007037.6(ADAMTS8):c.528G>T (p.Arg176Ser) | not specified [RCV004613221] | uncertain significance | 11 | 130427759 | 130427759 | Human | | name |
| 597797902 | CV3656261 | single nucleotide variant | NM_007037.6(ADAMTS8):c.341C>T (p.Ala114Val) | not specified [RCV004904522] | uncertain significance | 11 | 130427946 | 130427946 | Human | | name |
| 597797911 | CV3656289 | single nucleotide variant | NM_007037.6(ADAMTS8):c.581A>G (p.Glu194Gly) | not specified [RCV004904525] | uncertain significance | 11 | 130427706 | 130427706 | Human | | name |
| 598194787 | CV3951200 | single nucleotide variant | NM_007037.6(ADAMTS8):c.310G>A (p.Gly104Ser) | not specified [RCV005313226] | uncertain significance | 11 | 130427977 | 130427977 | Human | | name |
| 598195018 | CV3951249 | single nucleotide variant | NM_007037.6(ADAMTS8):c.344C>A (p.Ala115Glu) | not specified [RCV005313262] | uncertain significance | 11 | 130427943 | 130427943 | Human | | name |
| 598241204 | CV3951258 | single nucleotide variant | NM_007037.6(ADAMTS8):c.590G>A (p.Gly197Asp) | not specified [RCV005321508] | uncertain significance | 11 | 130427697 | 130427697 | Human | | name |
| 598241210 | CV3951268 | single nucleotide variant | NM_007037.6(ADAMTS8):c.438G>T (p.Gln146His) | not specified [RCV005321509] | uncertain significance | 11 | 130427849 | 130427849 | Human | | name |
| 598195196 | CV3951286 | single nucleotide variant | NM_007037.6(ADAMTS8):c.668C>G (p.Thr223Arg) | not specified [RCV005313290] | uncertain significance | 11 | 130427619 | 130427619 | Human | | name |
| 598195251 | CV3951296 | single nucleotide variant | NM_007037.6(ADAMTS8):c.967T>C (p.Cys323Arg) | not specified [RCV005313299] | uncertain significance | 11 | 130417069 | 130417069 | Human | | name |
| 156178930 | CV2201624 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1417G>A (p.Ala473Thr) | not specified [RCV004082088] | uncertain significance | 11 | 130414680 | 130414680 | Human | | name |
| 156130873 | CV2235193 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1511G>A (p.Gly504Glu) | not specified [RCV004107248] | uncertain significance | 11 | 130414586 | 130414586 | Human | | name |
| 155918420 | CV2236823 | single nucleotide variant | NM_007037.6(ADAMTS8):c.2302G>A (p.Gly768Ser) | not specified [RCV004112587] | uncertain significance | 11 | 130405926 | 130405926 | Human | | name |
| 156054706 | CV2243121 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1345G>A (p.Asp449Asn) | not specified [RCV004110030] | uncertain significance | 11 | 130414752 | 130414752 | Human | | name |
| 156233620 | CV2245274 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1837A>G (p.Lys613Glu) | not specified [RCV004107039] | uncertain significance | 11 | 130408854 | 130408854 | Human | | name |
| 156243438 | CV2246370 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1492G>A (p.Gly498Ser) | not specified [RCV004107809] | uncertain significance | 11 | 130414605 | 130414605 | Human | | name |
| 156100727 | CV2260280 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1859G>A (p.Arg620Gln) | not specified [RCV004129383] | uncertain significance | 11 | 130408832 | 130408832 | Human | | name |
| 156276706 | CV2300034 | single nucleotide variant | NM_007037.6(ADAMTS8):c.2162G>A (p.Arg721Gln) | not specified [RCV004151243] | uncertain significance | 11 | 130406066 | 130406066 | Human | | name |
| 156274846 | CV2320103 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1232T>C (p.Met411Thr) | not specified [RCV004167951] | uncertain significance | 11 | 130416195 | 130416195 | Human | | name |
| 155985406 | CV2345118 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1858C>T (p.Arg620Trp) | not specified [RCV004193390] | uncertain significance | 11 | 130408833 | 130408833 | Human | | name |
| 156112850 | CV2353471 | single nucleotide variant | NM_007037.6(ADAMTS8):c.2399C>A (p.Pro800Gln) | not specified [RCV004205925] | uncertain significance | 11 | 130405829 | 130405829 | Human | | name |
| 156197908 | CV2357754 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1045G>A (p.Val349Met) | not specified [RCV004205048] | uncertain significance | 11 | 130416991 | 130416991 | Human | | name |
| 156063536 | CV2380495 | single nucleotide variant | NM_007037.6(ADAMTS8):c.2152G>A (p.Val718Met) | not specified [RCV004218089] | uncertain significance | 11 | 130406076 | 130406076 | Human | | name |
| 156190706 | CV2385030 | single nucleotide variant | NM_007037.6(ADAMTS8):c.2545G>A (p.Gly849Arg) | not specified [RCV004228298] | uncertain significance | 11 | 130405683 | 130405683 | Human | | name |
| 155928240 | CV2391684 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1357A>G (p.Arg453Gly) | not specified [RCV004241840] | uncertain significance | 11 | 130414740 | 130414740 | Human | | name |
| 329383176 | CV2441976 | single nucleotide variant | NM_007037.6(ADAMTS8):c.2047G>A (p.Gly683Arg) | not specified [RCV004262149] | uncertain significance | 11 | 130408516 | 130408516 | Human | | name |
| 329394004 | CV2450016 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1438G>A (p.Asp480Asn) | not specified [RCV004269074] | uncertain significance | 11 | 130414659 | 130414659 | Human | | name |
| 11541279 | CV248555 | single nucleotide variant | NM_007037.6(ADAMTS8):c.2109C>A (p.Tyr703Ter) | Oromandibular-limb hypogenesis spectrum [RCV000240273] | uncertain significance | 11 | 130406119 | 130406119 | Human | 1 | name |
| 401726976 | CV2684415 | single nucleotide variant | NM_007037.6(ADAMTS8):c.2338C>T (p.Arg780Trp) | not specified [RCV004291492] | uncertain significance | 11 | 130405890 | 130405890 | Human | | name |
| 401768794 | CV2686373 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1651C>T (p.Arg551Cys) | not specified [RCV004297447] | uncertain significance | 11 | 130411516 | 130411516 | Human | | name |
| 401720739 | CV2702083 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1463C>T (p.Thr488Met) | not specified [RCV004320655] | uncertain significance | 11 | 130414634 | 130414634 | Human | | name |
| 401742358 | CV2718932 | single nucleotide variant | NM_007037.6(ADAMTS8):c.2297A>G (p.Tyr766Cys) | not specified [RCV004322530] | uncertain significance | 11 | 130405931 | 130405931 | Human | | name |
| 401875574 | CV2766099 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1454T>G (p.Leu485Arg) | not specified [RCV004340555] | uncertain significance | 11 | 130414643 | 130414643 | Human | | name |
| 401881460 | CV2783842 | single nucleotide variant | NM_007037.6(ADAMTS8):c.2564G>A (p.Arg855Gln) | not specified [RCV004360745] | uncertain significance | 11 | 130405664 | 130405664 | Human | | name |
| 405687760 | CV3236310 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1003G>A (p.Ala335Thr) | not specified [RCV004372634] | uncertain significance | 11 | 130417033 | 130417033 | Human | | name |
| 405687690 | CV3236325 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1258G>A (p.Gly420Arg) | not specified [RCV004372649] | uncertain significance | 11 | 130416169 | 130416169 | Human | | name |
| 405687511 | CV3236338 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1400C>G (p.Ser467Cys) | not specified [RCV004372662] | uncertain significance | 11 | 130414697 | 130414697 | Human | | name |
| 405687540 | CV3236344 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1499C>T (p.Pro500Leu) | not specified [RCV004372668] | uncertain significance | 11 | 130414598 | 130414598 | Human | | name |
| 405687546 | CV3236345 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1504G>A (p.Gly502Arg) | not specified [RCV004372669] | uncertain significance | 11 | 130414593 | 130414593 | Human | | name |
| 405687559 | CV3236348 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1513C>T (p.His505Tyr) | not specified [RCV004372672] | uncertain significance | 11 | 130414584 | 130414584 | Human | | name |
| 405687577 | CV3236352 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1650C>A (p.His550Gln) | not specified [RCV004372676] | uncertain significance | 11 | 130411517 | 130411517 | Human | | name |
| 405687772 | CV3245933 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1915G>A (p.Glu639Lys) | not specified [RCV004372693] | uncertain significance | 11 | 130408776 | 130408776 | Human | | name |
| 405687897 | CV3245958 | single nucleotide variant | NM_007037.6(ADAMTS8):c.2324G>A (p.Arg775His) | not specified [RCV004372718] | uncertain significance | 11 | 130405904 | 130405904 | Human | | name |
| 405687934 | CV3245965 | single nucleotide variant | NM_007037.6(ADAMTS8):c.2523G>C (p.Trp841Cys) | not specified [RCV004372725] | uncertain significance | 11 | 130405705 | 130405705 | Human | | name |
| 405687964 | CV3245971 | single nucleotide variant | NM_007037.6(ADAMTS8):c.2551G>A (p.Gly851Ser) | not specified [RCV004372731] | uncertain significance | 11 | 130405677 | 130405677 | Human | | name |
| 405688006 | CV3245980 | single nucleotide variant | NM_007037.6(ADAMTS8):c.2569G>C (p.Val857Leu) | not specified [RCV004372740] | uncertain significance | 11 | 130405659 | 130405659 | Human | | name |
| 597798154 | CV3656207 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1669G>A (p.Glu557Lys) | not specified [RCV004904474] | uncertain significance | 11 | 130411498 | 130411498 | Human | | name |
| 597798108 | CV3656224 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1373C>T (p.Pro458Leu) | not specified [RCV004904490] | likely benign | 11 | 130414724 | 130414724 | Human | | name |
| 597797837 | CV3656235 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1397C>T (p.Thr466Ile) | not specified [RCV004904500] | uncertain significance | 11 | 130414700 | 130414700 | Human | | name |
| 597797888 | CV3656252 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1819C>G (p.Leu607Val) | not specified [RCV004904517] | uncertain significance | 11 | 130408872 | 130408872 | Human | | name |
| 597797905 | CV3656270 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1741C>T (p.Pro581Ser) | not specified [RCV004904523] | uncertain significance | 11 | 130411426 | 130411426 | Human | | name |
| 597797916 | CV3656306 | single nucleotide variant | NM_007037.6(ADAMTS8):c.2572G>A (p.Glu858Lys) | not specified [RCV004904527] | uncertain significance | 11 | 130405656 | 130405656 | Human | | name |
| 597797920 | CV3656315 | single nucleotide variant | NM_007037.6(ADAMTS8):c.2170C>G (p.Pro724Ala) | not specified [RCV004904528] | uncertain significance | 11 | 130406058 | 130406058 | Human | | name |
| 598194825 | CV3951208 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1973G>A (p.Arg658His) | not specified [RCV005313233] | uncertain significance | 11 | 130408590 | 130408590 | Human | | name |
| 598194873 | CV3951219 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1292C>T (p.Ala431Val) | not specified [RCV005313241] | uncertain significance | 11 | 130414805 | 130414805 | Human | | name |
| 598194925 | CV3951230 | single nucleotide variant | NM_007037.6(ADAMTS8):c.2452A>G (p.Ser818Gly) | not specified [RCV005313249] | uncertain significance | 11 | 130405776 | 130405776 | Human | | name |
| 598241146 | CV3951239 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1122C>G (p.Asp374Glu) | not specified [RCV005321500] | uncertain significance | 11 | 130416305 | 130416305 | Human | | name |
| 598241228 | CV3951276 | single nucleotide variant | NM_007037.6(ADAMTS8):c.2360C>T (p.Thr787Ile) | not specified [RCV005321512] | uncertain significance | 11 | 130405868 | 130405868 | Human | | name |
| 598195305 | CV3951307 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1619G>A (p.Arg540Gln) | not specified [RCV005313308] | uncertain significance | 11 | 130411548 | 130411548 | Human | | name |
| 617152703 | CV4020952 | single nucleotide variant | NM_007037.6(ADAMTS8):c.1444G>T (p.Ala482Ser) | not provided [RCV005428705] | likely benign | 11 | 130414653 | 130414653 | Human | | name |