| 405279381 | CV3206217 | single nucleotide variant | NM_003335.3(UBA7):c.2910-9C>T | UBA7-related disorder [RCV003954905] | likely benign | 3 | 49805446 | 49805446 | Human | | name , trait , alternate_id |
| 40814757 | CV969976 | single nucleotide variant | NM_003335.3(UBA7):c.1904+3A>G | Intellectual disability [RCV001261390] | uncertain significance | 3 | 49809812 | 49809812 | Human | 2 | name |
| 405286906 | CV3193063 | single nucleotide variant | NM_003335.3(UBA7):c.264C>T (p.Ala88=) | UBA7-related disorder [RCV003981727] | benign | 3 | 49813345 | 49813345 | Human | | name , trait , alternate_id |
| 598232648 | CV3932595 | single nucleotide variant | NM_003335.3(UBA7):c.17C>T (p.Ala6Val) | not specified [RCV005295442] | uncertain significance | 3 | 49813771 | 49813771 | Human | | name |
| 156205547 | CV2311406 | single nucleotide variant | NM_003335.3(UBA7):c.86G>A (p.Arg29Lys) | not specified [RCV004168256] | uncertain significance | 3 | 49813618 | 49813618 | Human | | name |
| 156106044 | CV2387054 | single nucleotide variant | NM_003335.3(UBA7):c.74C>G (p.Pro25Arg) | not specified [RCV004226799] | uncertain significance | 3 | 49813630 | 49813630 | Human | | name |
| 405267613 | CV3198411 | single nucleotide variant | NM_003335.3(UBA7):c.453C>A (p.Thr151=) | UBA7-related disorder [RCV003911781] | likely benign | 3 | 49813076 | 49813076 | Human | | name , trait , alternate_id |
| 598264667 | CV3932592 | single nucleotide variant | NM_003335.3(UBA7):c.84G>T (p.Gln28His) | not specified [RCV005301585] | uncertain significance | 3 | 49813620 | 49813620 | Human | | name |
| 15125621 | CV708939 | single nucleotide variant | NM_003335.3(UBA7):c.444G>A (p.Ala148=) | not provided [RCV000963609] | likely benign | 3 | 49813085 | 49813085 | Human | | name |
| 156382178 | CV2227231 | single nucleotide variant | NM_003335.3(UBA7):c.190C>A (p.Pro64Thr) | not specified [RCV004091825] | uncertain significance | 3 | 49813514 | 49813514 | Human | | name |
| 156087503 | CV2388156 | single nucleotide variant | NM_003335.3(UBA7):c.208T>C (p.Ser70Pro) | not specified [RCV004234619] | uncertain significance | 3 | 49813496 | 49813496 | Human | | name |
| 405275529 | CV3196319 | single nucleotide variant | NM_003335.3(UBA7):c.1173C>T (p.Ala391=) | UBA7-related disorder [RCV003974175] | likely benign | 3 | 49811041 | 49811041 | Human | | name , trait , alternate_id |
| 405285933 | CV3196506 | single nucleotide variant | NM_003335.3(UBA7):c.1536C>T (p.Leu512=) | UBA7-related disorder [RCV003981382] | likely benign | 3 | 49810360 | 49810360 | Human | | name , trait , alternate_id |
| 405272488 | CV3221737 | single nucleotide variant | NM_003335.3(UBA7):c.1314G>A (p.Val438=) | UBA7-related disorder [RCV003972159] | likely benign | 3 | 49810670 | 49810670 | Human | | name , trait , alternate_id |
| 405814221 | CV3341184 | single nucleotide variant | NM_003335.3(UBA7):c.278A>C (p.Glu93Ala) | not specified [RCV004484259] | uncertain significance | 3 | 49813331 | 49813331 | Human | | name |
| 15137544 | CV708938 | single nucleotide variant | NM_003335.3(UBA7):c.2223G>T (p.Leu741=) | not provided [RCV000965638] | benign | 3 | 49809100 | 49809100 | Human | | name |
| 156149194 | CV2197078 | single nucleotide variant | NM_003335.3(UBA7):c.454C>T (p.Arg152Trp) | not specified [RCV004071515] | uncertain significance | 3 | 49813075 | 49813075 | Human | | name |
| 156167017 | CV2279726 | single nucleotide variant | NM_003335.3(UBA7):c.824A>G (p.His275Arg) | not specified [RCV004144341] | likely benign | 3 | 49811985 | 49811985 | Human | | name |
| 155955418 | CV2302460 | single nucleotide variant | NM_003335.3(UBA7):c.692G>C (p.Arg231Pro) | not specified [RCV004161191] | uncertain significance | 3 | 49812410 | 49812410 | Human | | name |
| 156157890 | CV2397989 | single nucleotide variant | NM_003335.3(UBA7):c.610C>T (p.Arg204Cys) | not specified [RCV004241594] | uncertain significance | 3 | 49812492 | 49812492 | Human | | name |
| 401744867 | CV2697089 | single nucleotide variant | NM_003335.3(UBA7):c.688G>A (p.Val230Met) | UBA7-related disorder [RCV003928972]|not specified [RCV004293067] | likely benign|uncertain significance | 3 | 49812414 | 49812414 | Human | | name , trait , alternate_id |
| 401783053 | CV2716107 | single nucleotide variant | NM_003335.3(UBA7):c.676C>G (p.Arg226Gly) | not specified [RCV004323350] | uncertain significance | 3 | 49812426 | 49812426 | Human | | name |
| 401863840 | CV2770859 | single nucleotide variant | NM_003335.3(UBA7):c.478T>G (p.Cys160Gly) | not specified [RCV004343537] | uncertain significance | 3 | 49812728 | 49812728 | Human | | name |
| 405814223 | CV3341185 | single nucleotide variant | NM_003335.3(UBA7):c.323C>T (p.Thr108Met) | not specified [RCV004484260] | uncertain significance | 3 | 49813286 | 49813286 | Human | | name |
| 405814224 | CV3341186 | single nucleotide variant | NM_003335.3(UBA7):c.458G>A (p.Gly153Asp) | not specified [RCV004484261] | uncertain significance | 3 | 49813071 | 49813071 | Human | | name |
| 405814226 | CV3341187 | single nucleotide variant | NM_003335.3(UBA7):c.676C>T (p.Arg226Trp) | not specified [RCV004484262] | uncertain significance | 3 | 49812426 | 49812426 | Human | | name |
| 405814228 | CV3341188 | single nucleotide variant | NM_003335.3(UBA7):c.736C>T (p.Arg246Trp) | not specified [RCV004484263] | uncertain significance | 3 | 49812165 | 49812165 | Human | | name |
| 405814229 | CV3341189 | single nucleotide variant | NM_003335.3(UBA7):c.778A>G (p.Lys260Glu) | not specified [RCV004484264] | uncertain significance | 3 | 49812123 | 49812123 | Human | | name |
| 405814231 | CV3341190 | single nucleotide variant | NM_003335.3(UBA7):c.917G>A (p.Arg306Gln) | not specified [RCV004484265] | uncertain significance | 3 | 49811892 | 49811892 | Human | | name |
| 597803075 | CV3625690 | single nucleotide variant | NM_003335.3(UBA7):c.538G>T (p.Ala180Ser) | not specified [RCV004881561] | uncertain significance | 3 | 49812668 | 49812668 | Human | | name |
| 597803079 | CV3625692 | single nucleotide variant | NM_003335.3(UBA7):c.313G>A (p.Val105Ile) | not specified [RCV004881563] | uncertain significance | 3 | 49813296 | 49813296 | Human | | name |
| 597803102 | CV3625703 | single nucleotide variant | NM_003335.3(UBA7):c.586A>G (p.Lys196Glu) | not specified [RCV004881574] | uncertain significance | 3 | 49812516 | 49812516 | Human | | name |
| 597803107 | CV3625705 | single nucleotide variant | NM_003335.3(UBA7):c.916C>T (p.Arg306Trp) | not specified [RCV004881576] | uncertain significance | 3 | 49811893 | 49811893 | Human | | name |
| 597803113 | CV3625708 | single nucleotide variant | NM_003335.3(UBA7):c.922C>G (p.Pro308Ala) | not specified [RCV004881579] | uncertain significance | 3 | 49811887 | 49811887 | Human | | name |
| 597803115 | CV3625709 | single nucleotide variant | NM_003335.3(UBA7):c.443C>T (p.Ala148Val) | not specified [RCV004881580] | likely benign | 3 | 49813086 | 49813086 | Human | | name |
| 598264656 | CV3932589 | single nucleotide variant | NM_003335.3(UBA7):c.407G>A (p.Gly136Asp) | not specified [RCV005301583] | uncertain significance | 3 | 49813122 | 49813122 | Human | | name |
| 598232637 | CV3932591 | single nucleotide variant | NM_003335.3(UBA7):c.569G>A (p.Gly190Asp) | not specified [RCV005295440] | uncertain significance | 3 | 49812533 | 49812533 | Human | | name |
| 156378153 | CV2207646 | single nucleotide variant | NM_003335.3(UBA7):c.1048G>A (p.Ala350Thr) | not specified [RCV004090419] | uncertain significance | 3 | 49811347 | 49811347 | Human | | name |
| 156327411 | CV2217273 | single nucleotide variant | NM_003335.3(UBA7):c.1783C>T (p.Pro595Ser) | not specified [RCV004087721] | likely benign | 3 | 49810034 | 49810034 | Human | | name |
| 156239812 | CV2221282 | single nucleotide variant | NM_003335.3(UBA7):c.2483G>A (p.Arg828Lys) | not specified [RCV004094712] | uncertain significance | 3 | 49808060 | 49808060 | Human | | name |
| 156384929 | CV2231227 | single nucleotide variant | NM_003335.3(UBA7):c.2545A>G (p.Ile849Val) | not specified [RCV004094426] | uncertain significance | 3 | 49807906 | 49807906 | Human | | name |
| 156239049 | CV2235879 | single nucleotide variant | NM_003335.3(UBA7):c.2629C>T (p.Pro877Ser) | not specified [RCV004111989] | uncertain significance | 3 | 49807822 | 49807822 | Human | | name |
| 155915061 | CV2242903 | single nucleotide variant | NM_003335.3(UBA7):c.2302A>G (p.Ile768Val) | not specified [RCV004107492] | uncertain significance | 3 | 49809021 | 49809021 | Human | | name |
| 156315325 | CV2250757 | single nucleotide variant | NM_003335.3(UBA7):c.2851G>A (p.Ala951Thr) | not specified [RCV004129632] | uncertain significance | 3 | 49805955 | 49805955 | Human | | name |
| 156176755 | CV2258120 | single nucleotide variant | NM_003335.3(UBA7):c.2350C>A (p.Pro784Thr) | not specified [RCV004121511] | uncertain significance | 3 | 49808466 | 49808466 | Human | | name |
| 156361790 | CV2265419 | single nucleotide variant | NM_003335.3(UBA7):c.2283C>A (p.Asp761Glu) | not specified [RCV004130451] | uncertain significance | 3 | 49809040 | 49809040 | Human | | name |
| 156243739 | CV2267288 | single nucleotide variant | NM_003335.3(UBA7):c.2656C>G (p.Leu886Val) | not specified [RCV004133962] | uncertain significance | 3 | 49807795 | 49807795 | Human | | name |
| 155945545 | CV2269666 | single nucleotide variant | NM_003335.3(UBA7):c.1411C>T (p.His471Tyr) | not specified [RCV004126661] | uncertain significance | 3 | 49810573 | 49810573 | Human | | name |
| 156055717 | CV2269667 | single nucleotide variant | NM_003335.3(UBA7):c.2570C>T (p.Thr857Ile) | not specified [RCV004126662] | uncertain significance | 3 | 49807881 | 49807881 | Human | | name |
| 156084779 | CV2330965 | single nucleotide variant | NM_003335.3(UBA7):c.1375G>A (p.Gly459Arg) | not specified [RCV004188009] | likely benign | 3 | 49810609 | 49810609 | Human | | name |
| 155917554 | CV2332838 | single nucleotide variant | NM_003335.3(UBA7):c.1642G>T (p.Val548Leu) | not specified [RCV004192102] | uncertain significance | 3 | 49810175 | 49810175 | Human | | name |
| 155906210 | CV2393901 | single nucleotide variant | NM_003335.3(UBA7):c.2587C>G (p.Leu863Val) | not specified [RCV004233722] | uncertain significance | 3 | 49807864 | 49807864 | Human | | name |
| 156006261 | CV2401180 | single nucleotide variant | NM_003335.3(UBA7):c.2531G>A (p.Arg844Gln) | not specified [RCV004245737] | uncertain significance | 3 | 49807920 | 49807920 | Human | | name |
| 329369489 | CV2424836 | single nucleotide variant | NM_003335.3(UBA7):c.1574G>A (p.Gly525Glu) | not specified [RCV004248723] | uncertain significance | 3 | 49810322 | 49810322 | Human | | name |
| 329355687 | CV2434346 | single nucleotide variant | NM_003335.3(UBA7):c.1822G>T (p.Ala608Ser) | not specified [RCV004252015] | uncertain significance | 3 | 49809995 | 49809995 | Human | | name |
| 329383822 | CV2434885 | single nucleotide variant | NM_003335.3(UBA7):c.2962C>T (p.Arg988Trp) | not specified [RCV004250760] | uncertain significance | 3 | 49805385 | 49805385 | Human | | name |
| 329380861 | CV2440562 | single nucleotide variant | NM_003335.3(UBA7):c.1421G>A (p.Arg474His) | not specified [RCV004256476] | uncertain significance | 3 | 49810563 | 49810563 | Human | | name |
| 329367079 | CV2442085 | single nucleotide variant | NM_003335.3(UBA7):c.1664A>G (p.Tyr555Cys) | not specified [RCV004264287] | uncertain significance | 3 | 49810153 | 49810153 | Human | | name |
| 329372016 | CV2442987 | single nucleotide variant | NM_003335.3(UBA7):c.1601G>A (p.Gly534Asp) | not specified [RCV004253580] | uncertain significance | 3 | 49810295 | 49810295 | Human | | name |
| 329355345 | CV2445385 | single nucleotide variant | NM_003335.3(UBA7):c.2848T>C (p.Ser950Pro) | not specified [RCV004257461] | likely benign | 3 | 49805958 | 49805958 | Human | | name |
| 329382942 | CV2445695 | single nucleotide variant | NM_003335.3(UBA7):c.2330C>T (p.Ser777Leu) | not specified [RCV004259768] | uncertain significance | 3 | 49808993 | 49808993 | Human | | name |
| 329361957 | CV2448158 | single nucleotide variant | NM_003335.3(UBA7):c.2204A>G (p.Tyr735Cys) | not specified [RCV004263374] | uncertain significance | 3 | 49809119 | 49809119 | Human | | name |
| 329358129 | CV2453904 | single nucleotide variant | NM_003335.3(UBA7):c.1672C>G (p.Pro558Ala) | not specified [RCV004271293] | uncertain significance | 3 | 49810145 | 49810145 | Human | | name |
| 401722565 | CV2677034 | single nucleotide variant | NM_003335.3(UBA7):c.2672A>G (p.Asn891Ser) | not specified [RCV004293633] | uncertain significance | 3 | 49807779 | 49807779 | Human | | name |
| 401744686 | CV2688212 | single nucleotide variant | NM_003335.3(UBA7):c.2230T>A (p.Ser744Thr) | not specified [RCV004298903] | uncertain significance | 3 | 49809093 | 49809093 | Human | | name |
| 401775249 | CV2692311 | single nucleotide variant | NM_003335.3(UBA7):c.1416A>G (p.Ile472Met) | not specified [RCV004310300] | uncertain significance | 3 | 49810568 | 49810568 | Human | | name |
| 401771806 | CV2693523 | single nucleotide variant | NM_003335.3(UBA7):c.2516G>A (p.Arg839His) | not specified [RCV004297508] | uncertain significance | 3 | 49808027 | 49808027 | Human | | name |
| 401750125 | CV2695947 | single nucleotide variant | NM_003335.3(UBA7):c.2767C>A (p.Gln923Lys) | not specified [RCV004308216] | uncertain significance | 3 | 49806114 | 49806114 | Human | | name |
| 401719545 | CV2701168 | single nucleotide variant | NM_003335.3(UBA7):c.2861A>G (p.Tyr954Cys) | not specified [RCV004309748] | uncertain significance | 3 | 49805945 | 49805945 | Human | | name |
| 401740692 | CV2702591 | single nucleotide variant | NM_003335.3(UBA7):c.2236G>A (p.Asp746Asn) | not specified [RCV004317073] | uncertain significance | 3 | 49809087 | 49809087 | Human | | name |
| 401778864 | CV2732941 | single nucleotide variant | NM_003335.3(UBA7):c.2515C>T (p.Arg839Cys) | not specified [RCV004331118] | uncertain significance | 3 | 49808028 | 49808028 | Human | | name |
| 401865524 | CV2755546 | single nucleotide variant | NM_003335.3(UBA7):c.1825G>A (p.Glu609Lys) | not specified [RCV004340126] | uncertain significance | 3 | 49809992 | 49809992 | Human | | name |
| 401864519 | CV2760941 | single nucleotide variant | NM_003335.3(UBA7):c.1874T>C (p.Leu625Pro) | not specified [RCV004336573] | uncertain significance | 3 | 49809845 | 49809845 | Human | | name |
| 401886188 | CV2771661 | single nucleotide variant | NM_003335.3(UBA7):c.2366A>G (p.Glu789Gly) | not specified [RCV004350459] | uncertain significance | 3 | 49808450 | 49808450 | Human | | name |
| 401881606 | CV2783894 | single nucleotide variant | NM_003335.3(UBA7):c.2092C>A (p.Leu698Ile) | not specified [RCV004360788] | uncertain significance | 3 | 49809461 | 49809461 | Human | | name |
| 401897101 | CV2789821 | single nucleotide variant | NM_003335.3(UBA7):c.1115T>C (p.Val372Ala) | not specified [RCV004362215] | uncertain significance | 3 | 49811280 | 49811280 | Human | | name |
| 401901634 | CV2802162 | single nucleotide variant | NM_003335.3(UBA7):c.1297C>T (p.Gln433Ter) | UBA7-related disorder [RCV003392994] | uncertain significance | 3 | 49810766 | 49810766 | Human | | name , trait , alternate_id |
| 405280115 | CV3191624 | single nucleotide variant | NM_003335.3(UBA7):c.1241G>A (p.Arg414His) | UBA7-related disorder [RCV003919766] | likely benign | 3 | 49810822 | 49810822 | Human | | name , trait , alternate_id |
| 405287388 | CV3210657 | single nucleotide variant | NM_003335.3(UBA7):c.1525G>A (p.Val509Met) | UBA7-related disorder [RCV003924426] | likely benign | 3 | 49810371 | 49810371 | Human | | name , trait , alternate_id |
| 405282681 | CV3212987 | single nucleotide variant | NM_003335.3(UBA7):c.2516G>C (p.Arg839Pro) | UBA7-related disorder [RCV003957092] | benign | 3 | 49808027 | 49808027 | Human | | name , trait , alternate_id |
| 405814202 | CV3341173 | single nucleotide variant | NM_003335.3(UBA7):c.1040G>A (p.Arg347Gln) | not specified [RCV004484248] | uncertain significance | 3 | 49811355 | 49811355 | Human | | name |
| 405814204 | CV3341174 | single nucleotide variant | NM_003335.3(UBA7):c.1295G>A (p.Arg432His) | not specified [RCV004484249] | likely benign | 3 | 49810768 | 49810768 | Human | | name |
| 405814207 | CV3341176 | single nucleotide variant | NM_003335.3(UBA7):c.1571A>G (p.Tyr524Cys) | not specified [RCV004484251] | uncertain significance | 3 | 49810325 | 49810325 | Human | | name |
| 405814209 | CV3341177 | single nucleotide variant | NM_003335.3(UBA7):c.1573G>C (p.Gly525Arg) | not specified [RCV004484252] | uncertain significance | 3 | 49810323 | 49810323 | Human | | name |
| 405814211 | CV3341178 | single nucleotide variant | NM_003335.3(UBA7):c.1652G>A (p.Arg551His) | not specified [RCV004484253] | uncertain significance | 3 | 49810165 | 49810165 | Human | | name |
| 405814212 | CV3341179 | single nucleotide variant | NM_003335.3(UBA7):c.1694C>T (p.Ser565Leu) | not specified [RCV004484254] | likely benign | 3 | 49810123 | 49810123 | Human | | name |
| 405814216 | CV3341181 | single nucleotide variant | NM_003335.3(UBA7):c.1801G>A (p.Val601Met) | not specified [RCV004484256] | uncertain significance | 3 | 49810016 | 49810016 | Human | | name |
| 405814218 | CV3341182 | single nucleotide variant | NM_003335.3(UBA7):c.2200C>G (p.Leu734Val) | not specified [RCV004484257] | uncertain significance | 3 | 49809123 | 49809123 | Human | | name |
| 405814219 | CV3341183 | single nucleotide variant | NM_003335.3(UBA7):c.2627G>A (p.Arg876Gln) | not specified [RCV004484258] | uncertain significance | 3 | 49807824 | 49807824 | Human | | name |
| 407522541 | CV3490969 | single nucleotide variant | NM_003335.3(UBA7):c.1211G>A (p.Ser404Asn) | not specified [RCV004677725] | likely benign | 3 | 49811003 | 49811003 | Human | | name |
| 407522544 | CV3490970 | single nucleotide variant | NM_003335.3(UBA7):c.1462G>T (p.Val488Phe) | not specified [RCV004677726] | uncertain significance | 3 | 49810522 | 49810522 | Human | | name |
| 597803068 | CV3625687 | single nucleotide variant | NM_003335.3(UBA7):c.1382G>A (p.Ser461Asn) | not specified [RCV004881558] | uncertain significance | 3 | 49810602 | 49810602 | Human | | name |
| 597803071 | CV3625688 | single nucleotide variant | NM_003335.3(UBA7):c.1502G>A (p.Arg501Gln) | not specified [RCV004881559] | likely benign | 3 | 49810394 | 49810394 | Human | | name |
| 597803073 | CV3625689 | single nucleotide variant | NM_003335.3(UBA7):c.2507C>T (p.Pro836Leu) | not specified [RCV004881560] | uncertain significance | 3 | 49808036 | 49808036 | Human | | name |
| 597803077 | CV3625691 | single nucleotide variant | NM_003335.3(UBA7):c.2468C>T (p.Ala823Val) | not specified [RCV004881562] | uncertain significance | 3 | 49808075 | 49808075 | Human | | name |
| 597803083 | CV3625694 | single nucleotide variant | NM_003335.3(UBA7):c.1953A>T (p.Leu651Phe) | not specified [RCV004881565] | uncertain significance | 3 | 49809677 | 49809677 | Human | | name |
| 597803085 | CV3625695 | single nucleotide variant | NM_003335.3(UBA7):c.2645G>A (p.Arg882His) | not specified [RCV004881566] | uncertain significance | 3 | 49807806 | 49807806 | Human | | name |
| 597803088 | CV3625696 | single nucleotide variant | NM_003335.3(UBA7):c.1595T>C (p.Val532Ala) | not specified [RCV004881567] | uncertain significance | 3 | 49810301 | 49810301 | Human | | name |
| 597803090 | CV3625697 | single nucleotide variant | NM_003335.3(UBA7):c.1805G>A (p.Arg602Gln) | not specified [RCV004881568] | uncertain significance | 3 | 49810012 | 49810012 | Human | | name |
| 597803092 | CV3625698 | single nucleotide variant | NM_003335.3(UBA7):c.1995C>G (p.Asn665Lys) | not specified [RCV004881569] | uncertain significance | 3 | 49809635 | 49809635 | Human | | name |
| 597803094 | CV3625699 | single nucleotide variant | NM_003335.3(UBA7):c.2056A>G (p.Lys686Glu) | not specified [RCV004881570] | uncertain significance | 3 | 49809574 | 49809574 | Human | | name |
| 597803096 | CV3625700 | single nucleotide variant | NM_003335.3(UBA7):c.2785G>A (p.Glu929Lys) | not specified [RCV004881571] | uncertain significance | 3 | 49806096 | 49806096 | Human | | name |
| 597803098 | CV3625701 | single nucleotide variant | NM_003335.3(UBA7):c.1078A>G (p.Met360Val) | not specified [RCV004881572] | uncertain significance | 3 | 49811317 | 49811317 | Human | | name |
| 597803100 | CV3625702 | single nucleotide variant | NM_003335.3(UBA7):c.2585G>A (p.Gly862Asp) | not specified [RCV004881573] | uncertain significance | 3 | 49807866 | 49807866 | Human | | name |
| 597803109 | CV3625706 | single nucleotide variant | NM_003335.3(UBA7):c.2965G>A (p.Val989Met) | not specified [RCV004881577] | uncertain significance | 3 | 49805382 | 49805382 | Human | | name |
| 597803111 | CV3625707 | single nucleotide variant | NM_003335.3(UBA7):c.2297C>A (p.Ala766Asp) | not specified [RCV004881578] | uncertain significance | 3 | 49809026 | 49809026 | Human | | name |
| 598232629 | CV3932588 | single nucleotide variant | NM_003335.3(UBA7):c.1183C>A (p.Leu395Ile) | not specified [RCV005295439] | uncertain significance | 3 | 49811031 | 49811031 | Human | | name |
| 598232644 | CV3932593 | single nucleotide variant | NM_003335.3(UBA7):c.2464G>A (p.Val822Ile) | not specified [RCV005295441] | uncertain significance | 3 | 49808079 | 49808079 | Human | | name |
| 598264673 | CV3932594 | single nucleotide variant | NM_003335.3(UBA7):c.2497G>A (p.Gly833Arg) | not specified [RCV005301586] | uncertain significance | 3 | 49808046 | 49808046 | Human | | name |
| 598232655 | CV3932596 | single nucleotide variant | NM_003335.3(UBA7):c.2350C>T (p.Pro784Ser) | not specified [RCV005295443] | uncertain significance | 3 | 49808466 | 49808466 | Human | | name |
| 598232661 | CV3932597 | single nucleotide variant | NM_003335.3(UBA7):c.1037T>C (p.Val346Ala) | not specified [RCV005295444] | uncertain significance | 3 | 49811358 | 49811358 | Human | | name |
| 598232669 | CV3932598 | single nucleotide variant | NM_003335.3(UBA7):c.1628A>G (p.Gln543Arg) | not specified [RCV005295445] | uncertain significance | 3 | 49810268 | 49810268 | Human | | name |
| 598264679 | CV3932599 | single nucleotide variant | NM_003335.3(UBA7):c.1518C>G (p.Asp506Glu) | not specified [RCV005301587] | uncertain significance | 3 | 49810378 | 49810378 | Human | | name |
| 15130574 | CV708936 | single nucleotide variant | NM_003335.3(UBA7):c.2632C>T (p.Arg878Cys) | not provided [RCV000964458] | likely benign | 3 | 49807819 | 49807819 | Human | | name |
| 15113181 | CV708937 | single nucleotide variant | NM_003335.3(UBA7):c.2450A>G (p.His817Arg) | not provided [RCV000961441] | benign | 3 | 49808093 | 49808093 | Human | | name |
