| 597788373 | CV3586552 | single nucleotide variant | NM_004040.4(RHOB):c.68T>C (p.Ile23Thr) | not specified [RCV004855483] | uncertain significance | 2 | 20447533 | 20447533 | Human | | name |
| 151733522 | CV1336577 | single nucleotide variant | NM_004040.4(RHOB):c.218C>T (p.Ser73Phe) | "See Cases" [RCV002294488]|RHOB-related disorder [RCV003147685]|Recurrent pancreatitis [RCV001849806]|not specified [RCV004038703] | likely pathogenic|uncertain significance | 2 | 20447683 | 20447683 | Human | 3 | name , trait |
| 598190071 | CV3902703 | single nucleotide variant | NM_004040.4(RHOB):c.452T>G (p.Ile151Ser) | not specified [RCV005266798] | uncertain significance | 2 | 20447917 | 20447917 | Human | | name |
| 151784633 | CV1344186 | single nucleotide variant | NM_015178.3(RHOBTB2):c.-6C>T | not provided [RCV002046483] | uncertain significance | 8 | 23004429 | 23004429 | Human | | name |
| 151826358 | CV1396171 | single nucleotide variant | NM_015178.3(RHOBTB2):c.-5G>A | not provided [RCV001934623] | benign|uncertain significance | 8 | 23004430 | 23004430 | Human | | name |
| 155961126 | CV1936534 | single nucleotide variant | NM_015178.3(RHOBTB2):c.-122T>G | not provided [RCV002512351] | benign | 8 | 22999994 | 22999994 | Human | | name |
| 401727252 | CV2736264 | single nucleotide variant | NM_015178.3(RHOBTB2):c.-438C>G | not provided [RCV003312712] | benign | 8 | 22999678 | 22999678 | Human | | name |
| 126774737 | CV1028463 | single nucleotide variant | NM_015178.3(RHOBTB2):c.296+1G>A | not provided [RCV001347571] | likely benign|uncertain significance | 8 | 23005476 | 23005476 | Human | | name |
| 150505017 | CV1255362 | single nucleotide variant | NM_001160036.2(RHOBTB2):c.-1G>A | RHOBTB2-related disorder [RCV003968455]|not provided [RCV001677809] | benign | 8 | 22994583 | 22994583 | Human | 1 | name , trait , alternate_id |
| 151823666 | CV1397777 | single nucleotide variant | NM_015178.3(RHOBTB2):c.192+4A>C | not provided [RCV001975990] | uncertain significance | 8 | 23004630 | 23004630 | Human | | name |
| 152159524 | CV1544416 | single nucleotide variant | NM_015178.3(RHOBTB2):c.193-8G>A | not provided [RCV002122941] | benign | 8 | 23005364 | 23005364 | Human | | name |
| 152081358 | CV1554655 | single nucleotide variant | NM_015178.3(RHOBTB2):c.193-4C>G | not provided [RCV002193059] | likely benign | 8 | 23005368 | 23005368 | Human | | name |
| 152161873 | CV1619558 | single nucleotide variant | NM_015178.3(RHOBTB2):c.297-8A>G | not provided [RCV002159782] | likely benign | 8 | 23005952 | 23005952 | Human | | name |
| 156163603 | CV1971351 | single nucleotide variant | NM_015178.3(RHOBTB2):c.482+5G>A | not provided [RCV002594551] | likely benign|uncertain significance | 8 | 23006150 | 23006150 | Human | | name |
| 156246138 | CV1996572 | single nucleotide variant | NM_015178.3(RHOBTB2):c.297-5C>T | not provided [RCV002668098] | likely benign | 8 | 23005955 | 23005955 | Human | | name |
| 156223787 | CV2080995 | single nucleotide variant | NM_015178.3(RHOBTB2):c.482+8G>A | not provided [RCV002853310] | likely benign | 8 | 23006153 | 23006153 | Human | | name |
| 156009666 | CV2083303 | single nucleotide variant | NM_015178.3(RHOBTB2):c.193-6C>T | not provided [RCV002866035] | likely benign | 8 | 23005366 | 23005366 | Human | | name |
| 401829288 | CV2747346 | single nucleotide variant | NM_015178.3(RHOBTB2):c.483-1G>A | not provided [RCV003328811] | uncertain significance | 8 | 23006727 | 23006727 | Human | | name |
| 405187706 | CV2977551 | single nucleotide variant | NM_015178.3(RHOBTB2):c.297-4G>T | not provided [RCV003706106] | likely benign | 8 | 23005956 | 23005956 | Human | | name |
| 150482376 | CV1247445 | single nucleotide variant | NM_015178.3(RHOBTB2):c.296+29G>T | Developmental and epileptic encephalopathy, 64 [RCV001796665]|not provided [RCV001673270] | benign | 8 | 23005504 | 23005504 | Human | 1 | name |
| 150499294 | CV1254335 | single nucleotide variant | NM_015178.3(RHOBTB2):c.296+16A>G | Developmental and epileptic encephalopathy, 64 [RCV001796685]|not provided [RCV001676509] | benign | 8 | 23005491 | 23005491 | Human | 1 | name |
| 150544673 | CV1296869 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1501+1G>C | not provided [RCV001774159] | uncertain significance | 8 | 23007747 | 23007747 | Human | | name |
| 151741172 | CV1404830 | single nucleotide variant | NM_015178.3(RHOBTB2):c.296+11C>T | not provided [RCV001947116] | likely benign|uncertain significance | 8 | 23005486 | 23005486 | Human | | name |
| 151762918 | CV1407463 | deletion | NM_015178.3(RHOBTB2):c.1861-7del | not provided [RCV002044487] | benign|uncertain significance | 8 | 23015631 | 23015631 | Human | | name |
| 151884813 | CV1425048 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1771+4A>G | not provided [RCV001887225] | benign|uncertain significance | 8 | 23010692 | 23010692 | Human | | name |
| 151827629 | CV1472080 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1502-1G>A | not provided [RCV002030488] | uncertain significance | 8 | 23007992 | 23007992 | Human | | name |
| 152045486 | CV1525731 | single nucleotide variant | NM_015178.3(RHOBTB2):c.482+14G>A | not provided [RCV002126608] | likely benign | 8 | 23006159 | 23006159 | Human | | name |
| 152084527 | CV1533514 | single nucleotide variant | NM_015178.3(RHOBTB2):c.296+20G>A | not provided [RCV002093293] | benign | 8 | 23005495 | 23005495 | Human | | name |
| 152065024 | CV1576102 | single nucleotide variant | NM_015178.3(RHOBTB2):c.297-11C>G | not provided [RCV002209205] | likely benign | 8 | 23005949 | 23005949 | Human | | name |
| 152097329 | CV1599923 | single nucleotide variant | NM_015178.3(RHOBTB2):c.193-17T>C | not provided [RCV002151364] | likely benign | 8 | 23005355 | 23005355 | Human | | name |
| 152137150 | CV1603685 | single nucleotide variant | NM_015178.3(RHOBTB2):c.-10-11C>T | not provided [RCV002218874] | benign | 8 | 23004414 | 23004414 | Human | | name |
| 152156517 | CV1615789 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1966+9C>T | not provided [RCV002158929] | likely benign | 8 | 23015752 | 23015752 | Human | | name |
| 152027015 | CV1626732 | single nucleotide variant | NM_015178.3(RHOBTB2):c.-10-20G>A | not provided [RCV002185354] | likely benign | 8 | 23004405 | 23004405 | Human | | name |
| 152062559 | CV1629797 | single nucleotide variant | NM_015178.3(RHOBTB2):c.296+12C>T | not provided [RCV002208871] | benign | 8 | 23005487 | 23005487 | Human | | name |
| 156403511 | CV1901675 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1860+7T>C | not provided [RCV002585228] | likely benign | 8 | 23014785 | 23014785 | Human | | name |
| 156225081 | CV1956617 | single nucleotide variant | NM_015178.3(RHOBTB2):c.193-12C>T | not provided [RCV002575671] | likely benign | 8 | 23005360 | 23005360 | Human | | name |
| 155994376 | CV1986805 | single nucleotide variant | NM_015178.3(RHOBTB2):c.297-11C>T | not provided [RCV002618164] | likely benign | 8 | 23005949 | 23005949 | Human | | name |
| 156005759 | CV2015017 | single nucleotide variant | NM_015178.3(RHOBTB2):c.-10-10T>C | not provided [RCV002690263] | likely benign | 8 | 23004415 | 23004415 | Human | | name |
| 155968944 | CV2030644 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1860+8G>C | not provided [RCV002731531] | likely benign | 8 | 23014786 | 23014786 | Human | | name |
| 156196933 | CV2038305 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1502-6G>C | Inborn genetic diseases [RCV004661467]|not provided [RCV002766097] | likely benign|uncertain significance | 8 | 23007987 | 23007987 | Human | 1 | name |
| 156275941 | CV2056199 | single nucleotide variant | NM_015178.3(RHOBTB2):c.-10-11C>A | not provided [RCV002806823] | likely benign | 8 | 23004414 | 23004414 | Human | | name |
| 156354105 | CV2066214 | single nucleotide variant | NM_015178.3(RHOBTB2):c.482+18C>A | not provided [RCV002812003] | likely benign | 8 | 23006163 | 23006163 | Human | | name |
| 156216596 | CV2076896 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1861-1G>T | not provided [RCV002875700] | uncertain significance | 8 | 23015637 | 23015637 | Human | | name |
| 156305847 | CV2079785 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1860+3A>T | not provided [RCV002857402] | uncertain significance | 8 | 23014781 | 23014781 | Human | | name |
| 155979953 | CV2090218 | single nucleotide variant | NM_015178.3(RHOBTB2):c.482+12T>C | not provided [RCV002881885] | likely benign | 8 | 23006157 | 23006157 | Human | | name |
| 156125668 | CV2112318 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1772-3C>T | not provided [RCV002927993] | likely benign | 8 | 23014687 | 23014687 | Human | | name |
| 156331671 | CV2112720 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1501+5G>A | not provided [RCV002938404] | benign | 8 | 23007751 | 23007751 | Human | | name |
| 155989001 | CV2151117 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1967-8T>C | not provided [RCV003016733] | likely benign | 8 | 23017244 | 23017244 | Human | | name |
| 155934296 | CV2153447 | single nucleotide variant | NM_015178.3(RHOBTB2):c.193-14C>T | not provided [RCV003013821] | likely benign | 8 | 23005358 | 23005358 | Human | | name |
| 156001548 | CV2169997 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1771+8A>G | not provided [RCV003017297] | likely benign | 8 | 23010696 | 23010696 | Human | | name |
| 156195251 | CV2175483 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1621-4C>G | not provided [RCV003057971] | likely benign | 8 | 23010534 | 23010534 | Human | | name |
| 402490485 | CV2866688 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1772-8T>A | not provided [RCV003572964] | uncertain significance | 8 | 23014682 | 23014682 | Human | | name |
| 405212038 | CV2878585 | single nucleotide variant | NM_015178.3(RHOBTB2):c.193-11C>T | not provided [RCV003552738] | likely benign | 8 | 23005361 | 23005361 | Human | | name |
| 405130840 | CV2895198 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1966+7A>G | not provided [RCV003559990] | likely benign | 8 | 23015750 | 23015750 | Human | | name |
| 405100367 | CV2938129 | single nucleotide variant | NM_015178.3(RHOBTB2):c.193-19T>C | not provided [RCV003665813] | likely benign | 8 | 23005353 | 23005353 | Human | | name |
| 405122751 | CV2954162 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1861-5C>A | not provided [RCV003667597] | likely benign | 8 | 23015633 | 23015633 | Human | | name |
| 405087528 | CV3167465 | single nucleotide variant | NM_015178.3(RHOBTB2):c.297-17T>C | not provided [RCV003852047] | likely benign | 8 | 23005943 | 23005943 | Human | | name |
| 405236652 | CV3169071 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1861-3C>T | not provided [RCV003866350] | benign | 8 | 23015635 | 23015635 | Human | | name |
| 405000204 | CV3183921 | single nucleotide variant | NM_015178.3(RHOBTB2):c.296+19C>T | not provided [RCV003882504] | likely benign | 8 | 23005494 | 23005494 | Human | | name |
| 597948081 | CV3759076 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1620+7C>G | not provided [RCV005078872] | likely benign | 8 | 23008118 | 23008118 | Human | | name |
| 597972792 | CV3790713 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1501+4T>A | not provided [RCV005142928] | uncertain significance | 8 | 23007750 | 23007750 | Human | | name |
| 597933862 | CV3810809 | single nucleotide variant | NM_015178.3(RHOBTB2):c.-10-13T>C | not provided [RCV005157518] | likely benign | 8 | 23004412 | 23004412 | Human | | name |
| 597849204 | CV3824403 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1966+1G>C | not provided [RCV005173442] | uncertain significance | 8 | 23015744 | 23015744 | Human | | name |
| 598127061 | CV3882441 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1861-2A>G | not provided [RCV005233993] | uncertain significance | 8 | 23015636 | 23015636 | Human | | name |
| 150463053 | CV1214732 | single nucleotide variant | NM_015178.3(RHOBTB2):c.296+203C>T | not provided [RCV001613725] | benign | 8 | 23005678 | 23005678 | Human | | name |
| 150434993 | CV1231231 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1620+21G>C | not provided [RCV001643876] | benign | 8 | 23008132 | 23008132 | Human | | name |
| 150465185 | CV1252840 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1861-44C>A | not provided [RCV001670164] | benign | 8 | 23015594 | 23015594 | Human | | name |
| 150441261 | CV1265754 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1501+61T>G | not provided [RCV001690479] | benign | 8 | 23007807 | 23007807 | Human | | name |
| 150491351 | CV1267762 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1771+53C>G | not provided [RCV001687787] | benign | 8 | 23010741 | 23010741 | Human | | name |
| 150479038 | CV1273399 | single nucleotide variant | NM_015178.3(RHOBTB2):c.193-122T>C | not provided [RCV001696602] | benign | 8 | 23005250 | 23005250 | Human | | name |
| 152046737 | CV1527197 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1772-13G>A | not provided [RCV002166359] | benign | 8 | 23014677 | 23014677 | Human | | name |
| 152152743 | CV1529716 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1861-12T>G | not provided [RCV002202228] | likely benign | 8 | 23015626 | 23015626 | Human | | name |
| 152113551 | CV1586122 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1771+19C>T | not provided [RCV002153369] | likely benign | 8 | 23010707 | 23010707 | Human | | name |
| 152146075 | CV1599901 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1966+19C>A | not provided [RCV002138822] | likely benign | 8 | 23015762 | 23015762 | Human | | name |
| 152112218 | CV1604122 | deletion | NM_015178.3(RHOBTB2):c.1860+15del | not provided [RCV002097006] | benign | 8 | 23014790 | 23014790 | Human | | name |
| 152147252 | CV1608157 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1501+14T>C | not provided [RCV002178911] | likely benign | 8 | 23007760 | 23007760 | Human | | name |
| 152074670 | CV1630295 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1621-13C>G | not provided [RCV002169746] | likely benign | 8 | 23010525 | 23010525 | Human | | name |
| 152079637 | CV1632473 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1501+20A>G | not provided [RCV002130666] | likely benign | 8 | 23007766 | 23007766 | Human | | name |
| 152127199 | CV1642034 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1771+20G>A | not provided [RCV002176325] | likely benign | 8 | 23010708 | 23010708 | Human | | name |
| 152028221 | CV1655134 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1966+10G>A | not provided [RCV002105160] | likely benign | 8 | 23015753 | 23015753 | Human | | name |
| 156052627 | CV1974430 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1771+11A>G | not provided [RCV002590709] | likely benign | 8 | 23010699 | 23010699 | Human | | name |
| 155907982 | CV1979890 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1501+20A>T | not provided [RCV002613785] | likely benign | 8 | 23007766 | 23007766 | Human | | name |
| 156388641 | CV1996019 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1772-14C>T | not provided [RCV002654184] | likely benign | 8 | 23014676 | 23014676 | Human | | name |
| 156221451 | CV2067910 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1772-10T>G | not provided [RCV002829700] | uncertain significance | 8 | 23014680 | 23014680 | Human | | name |
| 156225030 | CV2081059 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1501+17G>A | not provided [RCV002853356] | likely benign | 8 | 23007763 | 23007763 | Human | | name |
| 155903596 | CV2084001 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1861-11T>C | not provided [RCV002858011] | likely benign | 8 | 23015627 | 23015627 | Human | | name |
| 156197016 | CV2159035 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1502-18G>C | not provided [RCV003041840] | likely benign | 8 | 23007975 | 23007975 | Human | | name |
| 405233253 | CV2985562 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1501+16G>A | not provided [RCV003711864] | likely benign | 8 | 23007762 | 23007762 | Human | | name |
| 405171374 | CV3122558 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1501+12G>A | not provided [RCV003819147] | likely benign | 8 | 23007758 | 23007758 | Human | | name |
| 405038835 | CV3130928 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1861-13C>T | not provided [RCV003831146] | likely benign | 8 | 23015625 | 23015625 | Human | | name |
| 405189919 | CV3156702 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1502-15G>A | not provided [RCV003859580] | likely benign | 8 | 23007978 | 23007978 | Human | | name |
| 405222407 | CV3158261 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1772-13G>T | not provided [RCV003863757] | likely benign | 8 | 23014677 | 23014677 | Human | | name |
| 405196123 | CV3168112 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1621-14C>T | not provided [RCV003860244] | likely benign | 8 | 23010524 | 23010524 | Human | | name |
| 597948654 | CV3818370 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1620+14C>T | not provided [RCV005160631] | likely benign | 8 | 23008125 | 23008125 | Human | | name |
| 597863035 | CV3822753 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1620+20G>A | not provided [RCV005175285] | likely benign | 8 | 23008131 | 23008131 | Human | | name |
| 597909721 | CV3830088 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1620+20G>T | not provided [RCV005182658] | likely benign | 8 | 23008131 | 23008131 | Human | | name |
| 150507510 | CV1226610 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1861-147G>A | not provided [RCV001635978] | benign | 8 | 23015491 | 23015491 | Human | | name |
| 150509156 | CV1229820 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1967-134C>T | not provided [RCV001636399] | benign | 8 | 23017118 | 23017118 | Human | | name |
| 150467182 | CV1255863 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1772-146G>T | not provided [RCV001670497] | benign | 8 | 23014544 | 23014544 | Human | | name |
| 401904925 | CV2820958 | single nucleotide variant | NM_001160036.2(RHOBTB2):c.-23-3C>T | not provided [RCV003436799] | benign | 8 | 22994558 | 22994558 | Human | | name |
| 150511563 | CV1284725 | single nucleotide variant | NM_001160036.2(RHOBTB2):c.-23-31C>T | not provided [RCV001721594] | benign | 8 | 22994530 | 22994530 | Human | | name |
| 150443505 | CV1234171 | single nucleotide variant | NM_001160036.2(RHOBTB2):c.56+1070C>G | not provided [RCV001645560] | benign | 8 | 22995709 | 22995709 | Human | | name |
| 597699020 | CV3586562 | single nucleotide variant | NM_001160036.2(RHOBTB2):c.56+1243G>A | Inborn genetic diseases [RCV004960110] | likely benign | 8 | 22995882 | 22995882 | Human | 1 | name |
| 598242773 | CV3894324 | single nucleotide variant | NM_001160036.2(RHOBTB2):c.56+2442A>G | not provided [RCV005257567] | likely benign | 8 | 22997081 | 22997081 | Human | | name |
| 8652163 | CV128738 | single nucleotide variant | NM_001242359.1(RHOBTB1):c.297-2250C>T | Lung cancer [RCV000109225] | uncertain significance | 10 | 60895245 | 60895245 | Human | | name |
| 8652164 | CV128739 | single nucleotide variant | NM_001242359.1(RHOBTB1):c.-11+11318C>T | Lung cancer [RCV000109226] | uncertain significance | 10 | 60924895 | 60924895 | Human | | name |
| 405145728 | CV3122710 | microsatellite | NM_015178.3(RHOBTB2):c.1502-9_1502-7del | not provided [RCV003817132] | likely benign | 8 | 23007979 | 23007981 | Human | | name |
| 152045453 | CV1556127 | deletion | NM_015178.3(RHOBTB2):c.1620+18_1620+19del | not provided [RCV002206873] | likely benign | 8 | 23008128 | 23008129 | Human | | name |
| 152153733 | CV1626214 | deletion | NM_015178.3(RHOBTB2):c.1966+19_1966+27del | not provided [RCV002139896] | likely benign | 8 | 23015758 | 23015766 | Human | | name |
| 405223447 | CV3035762 | indel | NM_015178.3(RHOBTB2):c.296+15_296+16delinsCG | not provided [RCV003710310] | uncertain significance | 8 | 23005490 | 23005491 | Human | | name |
| 126734491 | CV1000621 | single nucleotide variant | NM_015178.3(RHOBTB2):c.396A>T (p.Arg132=) | RHOBTB2-related disorder [RCV003938619]|not provided [RCV001311321] | likely benign | 8 | 23006059 | 23006059 | Human | 1 | name , trait , alternate_id |
| 126734500 | CV1000623 | single nucleotide variant | NM_015178.3(RHOBTB2):c.830G>A (p.Arg277His) | Inborn genetic diseases [RCV002543574]|RHOBTB2-related disorder [RCV003918848]|not provided [RCV001311323] | likely benign | 8 | 23007075 | 23007075 | Human | 2 | name , trait , alternate_id |
| 127260264 | CV1096940 | single nucleotide variant | NM_015178.3(RHOBTB2):c.734T>C (p.Val245Ala) | Inborn genetic diseases [RCV002555554]|RHOBTB2-related disorder [RCV003908644]|not provided [RCV001438536] | benign|likely benign | 8 | 23006979 | 23006979 | Human | 2 | name , trait , alternate_id |
| 127314305 | CV1155945 | single nucleotide variant | NM_015178.3(RHOBTB2):c.168C>T (p.Ile56=) | RHOBTB2-related disorder [RCV003921150]|not provided [RCV001519564] | benign | 8 | 23004602 | 23004602 | Human | 1 | name , trait , alternate_id |
| 150443465 | CV1234165 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2094A>G (p.Lys698=) | RHOBTB2-related disorder [RCV003921295]|not provided [RCV001645554] | benign | 8 | 23017379 | 23017379 | Human | 1 | name , trait , alternate_id |
| 151823910 | CV1349450 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1834G>A (p.Val612Ile) | Developmental and epileptic encephalopathy, 64 [RCV003339844]|Inborn genetic diseases [RCV004656764]|RHOBTB2-related disorder [RCV003401932]|not provided [RCV001934416] | uncertain significance | 8 | 23014752 | 23014752 | Human | 2 | name , trait , alternate_id |
| 151843986 | CV1381305 | single nucleotide variant | NM_015178.3(RHOBTB2):c.802G>A (p.Val268Ile) | RHOBTB2-related disorder [RCV003892924]|not provided [RCV001881706] | benign|uncertain significance | 8 | 23007047 | 23007047 | Human | 1 | name , trait , alternate_id |
| 151767509 | CV1415111 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1007G>A (p.Arg336Gln) | Inborn genetic diseases [RCV005271524]|RHOBTB2-related disorder [RCV004749787]|not provided [RCV001929195] | benign|likely benign|uncertain significance | 8 | 23007252 | 23007252 | Human | 2 | name , trait , alternate_id |
| 152076892 | CV1531235 | single nucleotide variant | NM_015178.3(RHOBTB2):c.926C>T (p.Ser309Leu) | Inborn genetic diseases [RCV003089087]|RHOBTB2-related disorder [RCV003926315]|not provided [RCV002210718] | likely benign | 8 | 23007171 | 23007171 | Human | 2 | name , trait , alternate_id |
| 152095816 | CV1559620 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1640G>A (p.Ser547Asn) | RHOBTB2-related disorder [RCV003978580]|not provided [RCV002213343] | benign|likely benign | 8 | 23010557 | 23010557 | Human | 1 | name , trait , alternate_id |
| 152132281 | CV1585053 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1681G>A (p.Gly561Ser) | Developmental and epileptic encephalopathy, 64 [RCV003483881]|RHOBTB2-related disorder [RCV003426307]|not provided [RCV002083025] | likely benign|uncertain significance|not provided | 8 | 23010598 | 23010598 | Human | 1 | name , trait , alternate_id |
| 152142034 | CV1588718 | single nucleotide variant | NM_015178.3(RHOBTB2):c.543G>A (p.Leu181=) | RHOBTB2-related disorder [RCV004749878]|not provided [RCV002200700] | likely benign | 8 | 23006788 | 23006788 | Human | 1 | name , trait , alternate_id |
| 152077008 | CV1592082 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2091C>G (p.Pro697=) | RHOBTB2-related disorder [RCV003984187]|not provided [RCV002112242] | likely benign | 8 | 23017376 | 23017376 | Human | 1 | name , trait , alternate_id |
| 152163408 | CV1600843 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1180G>A (p.Val394Met) | RHOBTB2-related disorder [RCV003951271]|not provided [RCV002141319] | benign | 8 | 23007425 | 23007425 | Human | 1 | name , trait , alternate_id |
| 152175213 | CV1602041 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1130G>C (p.Gly377Ala) | RHOBTB2-related disorder [RCV003903564]|not provided [RCV002163421] | likely benign | 8 | 23007375 | 23007375 | Human | 1 | name , trait , alternate_id |
| 152105606 | CV1609512 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2100T>C (p.Arg700=) | RHOBTB2-related disorder [RCV003923640]|not provided [RCV002115896] | benign|likely benign | 8 | 23017385 | 23017385 | Human | 1 | name , trait , alternate_id |
| 152162397 | CV1635737 | single nucleotide variant | NM_015178.3(RHOBTB2):c.801C>T (p.Asp267=) | RHOBTB2-related disorder [RCV004729103]|not provided [RCV002203663] | likely benign | 8 | 23007046 | 23007046 | Human | 1 | name , trait , alternate_id |
| 152175092 | CV1637518 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1790G>C (p.Gly597Ala) | Inborn genetic diseases [RCV004046358]|RHOBTB2-related disorder [RCV004749861]|not provided [RCV002144664] | benign|likely benign | 8 | 23014708 | 23014708 | Human | 2 | name , trait , alternate_id |
| 152040773 | CV1649258 | single nucleotide variant | NM_015178.3(RHOBTB2):c.558T>C (p.Tyr186=) | RHOBTB2-related disorder [RCV003896068]|not provided [RCV002206311] | likely benign | 8 | 23006803 | 23006803 | Human | 1 | name , trait , alternate_id |
| 156444163 | CV1937687 | single nucleotide variant | NM_015178.3(RHOBTB2):c.853C>G (p.Leu285Val) | RHOBTB2-related disorder [RCV003900945]|not provided [RCV003115084] | benign|uncertain significance | 8 | 23007098 | 23007098 | Human | 1 | name , trait , alternate_id |
| 401880622 | CV2792912 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1450G>A (p.Val484Ile) | Inborn genetic diseases [RCV003385063]|RHOBTB2-related disorder [RCV003420681]|not provided [RCV003436036] | uncertain significance | 8 | 23007695 | 23007695 | Human | 2 | name , trait , alternate_id |
| 401914011 | CV2799174 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1954G>T (p.Ala652Ser) | RHOBTB2-related disorder [RCV003400316] | uncertain significance | 8 | 23015731 | 23015731 | Human | | name , trait , alternate_id |
| 401920767 | CV2801954 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2171C>T (p.Ser724Leu) | RHOBTB2-related disorder [RCV003402736]|not provided [RCV003732577] | uncertain significance | 8 | 23017456 | 23017456 | Human | 1 | name , trait , alternate_id |
| 401921284 | CV2804473 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1357G>C (p.Glu453Gln) | RHOBTB2-related disorder [RCV003402886] | uncertain significance | 8 | 23007602 | 23007602 | Human | | name , trait , alternate_id |
| 401904922 | CV2820959 | single nucleotide variant | NM_001160037.2(RHOBTB2):c.9G>A (p.Ala3=) | RHOBTB2-related disorder [RCV003919223]|not provided [RCV003436800] | likely benign | 8 | 22995880 | 22995880 | Human | 1 | name , trait , alternate_id |
| 405126762 | CV3017367 | single nucleotide variant | NM_015178.3(RHOBTB2):c.293G>A (p.Gly98Glu) | RHOBTB2-related disorder [RCV003901269]|not provided [RCV003701287] | pathogenic|uncertain significance | 8 | 23005472 | 23005472 | Human | 1 | name , trait , alternate_id |
| 405192080 | CV3070073 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1088G>A (p.Arg363His) | RHOBTB2-related disorder [RCV003966649]|not provided [RCV003729817] | benign|uncertain significance | 8 | 23007333 | 23007333 | Human | 1 | name , trait , alternate_id |
| 405289901 | CV3219191 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2034C>G (p.Tyr678Ter) | Developmental and epileptic encephalopathy, 64 [RCV004759342]|RHOBTB2-related disorder [RCV003962073] | uncertain significance | 8 | 23017319 | 23017319 | Human | 1 | name , trait , alternate_id |
| 405278732 | CV3220197 | single nucleotide variant | NM_001160037.2(RHOBTB2):c.8C>A (p.Ala3Glu) | RHOBTB2-related disorder [RCV003969454] | likely benign | 8 | 22995879 | 22995879 | Human | | name , trait , alternate_id |
| 15196083 | CV723007 | single nucleotide variant | NM_015178.3(RHOBTB2):c.999C>T (p.His333=) | RHOBTB2-related disorder [RCV003975609]|not provided [RCV000889681] | benign | 8 | 23007244 | 23007244 | Human | 1 | name , trait , alternate_id |
| 152128532 | CV1584146 | single nucleotide variant | NM_015178.3(RHOBTB2):c.12C>T (p.Asp4=) | not provided [RCV002082547] | likely benign | 8 | 23004446 | 23004446 | Human | | name |
| 152049055 | CV1627655 | single nucleotide variant | NM_015178.3(RHOBTB2):c.69C>T (p.Asn23=) | not provided [RCV002108713] | likely benign | 8 | 23004503 | 23004503 | Human | | name |
| 156139514 | CV2044405 | single nucleotide variant | NM_015178.3(RHOBTB2):c.72C>T (p.Ala24=) | not provided [RCV002800899] | likely benign | 8 | 23004506 | 23004506 | Human | | name |
| 156139544 | CV2044406 | single nucleotide variant | NM_015178.3(RHOBTB2):c.78T>C (p.Gly26=) | not provided [RCV002800900] | likely benign | 8 | 23004512 | 23004512 | Human | | name |
| 405233098 | CV2965434 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1A>G (p.Met1Val) | not provided [RCV003682583] | uncertain significance | 8 | 23004435 | 23004435 | Human | | name |
| 405243669 | CV2971677 | single nucleotide variant | NM_015178.3(RHOBTB2):c.36A>G (p.Val12=) | not provided [RCV003684646] | likely benign | 8 | 23004470 | 23004470 | Human | | name |
| 405208716 | CV3037244 | single nucleotide variant | NM_015178.3(RHOBTB2):c.33C>T (p.Asn11=) | not provided [RCV003708350] | likely benign | 8 | 23004467 | 23004467 | Human | | name |
| 597893068 | CV3749413 | single nucleotide variant | NM_015178.3(RHOBTB2):c.51C>T (p.Cys17=) | not provided [RCV005071197] | likely benign | 8 | 23004485 | 23004485 | Human | | name |
| 597892441 | CV3785329 | single nucleotide variant | NM_015178.3(RHOBTB2):c.93C>A (p.Ile31=) | not provided [RCV005125915] | likely benign | 8 | 23004527 | 23004527 | Human | | name |
| 15149915 | CV711450 | single nucleotide variant | NM_015178.3(RHOBTB2):c.90C>A (p.Leu30=) | not provided [RCV000967843] | benign | 8 | 23004524 | 23004524 | Human | | name |
| 152154624 | CV1556459 | single nucleotide variant | NM_015178.3(RHOBTB2):c.228C>T (p.Val76=) | not provided [RCV002122242] | likely benign | 8 | 23005407 | 23005407 | Human | | name |
| 152041159 | CV1558146 | single nucleotide variant | NM_015178.3(RHOBTB2):c.102C>T (p.Arg34=) | not provided [RCV002126111] | likely benign | 8 | 23004536 | 23004536 | Human | | name |
| 152117351 | CV1566574 | single nucleotide variant | NM_015178.3(RHOBTB2):c.174A>G (p.Gln58=) | not provided [RCV002153821] | likely benign | 8 | 23004608 | 23004608 | Human | | name |
| 152069317 | CV1566846 | single nucleotide variant | NM_015178.3(RHOBTB2):c.225T>C (p.Asp75=) | not provided [RCV002111232] | likely benign | 8 | 23005404 | 23005404 | Human | | name |
| 152035763 | CV1590476 | single nucleotide variant | NM_015178.3(RHOBTB2):c.231C>T (p.Ser77=) | not provided [RCV002205548] | likely benign | 8 | 23005410 | 23005410 | Human | | name |
| 152093020 | CV1598598 | single nucleotide variant | NM_015178.3(RHOBTB2):c.123C>A (p.Thr41=) | not provided [RCV002172081] | likely benign | 8 | 23004557 | 23004557 | Human | | name |
| 152164760 | CV1625567 | single nucleotide variant | NM_015178.3(RHOBTB2):c.180T>C (p.Arg60=) | not provided [RCV002160314] | likely benign | 8 | 23004614 | 23004614 | Human | | name |
| 152028479 | CV1642810 | single nucleotide variant | NM_015178.3(RHOBTB2):c.120C>A (p.Leu40=) | not provided [RCV002185851] | likely benign | 8 | 23004554 | 23004554 | Human | | name |
| 156087825 | CV1899086 | single nucleotide variant | NM_015178.3(RHOBTB2):c.144G>A (p.Thr48=) | not provided [RCV003080099] | likely benign | 8 | 23004578 | 23004578 | Human | | name |
| 156370062 | CV1920097 | single nucleotide variant | NM_015178.3(RHOBTB2):c.285T>C (p.Phe95=) | not provided [RCV002603101] | likely benign | 8 | 23005464 | 23005464 | Human | | name |
| 155907996 | CV2077507 | single nucleotide variant | NM_015178.3(RHOBTB2):c.216G>A (p.Val72=) | not provided [RCV002858275] | likely benign | 8 | 23005395 | 23005395 | Human | | name |
| 156145553 | CV2160475 | single nucleotide variant | NM_015178.3(RHOBTB2):c.216G>T (p.Val72=) | not provided [RCV003022672] | likely benign | 8 | 23005395 | 23005395 | Human | | name |
| 402479021 | CV2924896 | single nucleotide variant | NM_015178.3(RHOBTB2):c.207C>T (p.Ser69=) | not provided [RCV003571870] | likely benign | 8 | 23005386 | 23005386 | Human | | name |
| 405084947 | CV3028297 | single nucleotide variant | NM_015178.3(RHOBTB2):c.123C>T (p.Thr41=) | not provided [RCV003699333] | likely benign | 8 | 23004557 | 23004557 | Human | | name |
| 405085730 | CV3137737 | single nucleotide variant | NM_015178.3(RHOBTB2):c.282C>T (p.Arg94=) | not provided [RCV003834446] | likely benign | 8 | 23005461 | 23005461 | Human | | name |
| 405131240 | CV3163697 | single nucleotide variant | NM_015178.3(RHOBTB2):c.120C>T (p.Leu40=) | not provided [RCV003854685] | likely benign | 8 | 23004554 | 23004554 | Human | | name |
| 405213640 | CV3169898 | single nucleotide variant | NM_015178.3(RHOBTB2):c.13A>G (p.Met5Val) | not provided [RCV003862502] | uncertain significance | 8 | 23004447 | 23004447 | Human | | name |
| 597851697 | CV3737560 | single nucleotide variant | NM_015178.3(RHOBTB2):c.126G>A (p.Gln42=) | not provided [RCV005066333] | likely benign | 8 | 23004560 | 23004560 | Human | | name |
| 597941063 | CV3785705 | single nucleotide variant | NM_015178.3(RHOBTB2):c.243C>T (p.Arg81=) | not provided [RCV005133597] | likely benign | 8 | 23005422 | 23005422 | Human | | name |
| 597968654 | CV3791023 | single nucleotide variant | NM_015178.3(RHOBTB2):c.234C>A (p.Val78=) | not provided [RCV005141055] | likely benign | 8 | 23005413 | 23005413 | Human | | name |
| 597906851 | CV3804111 | single nucleotide variant | NM_015178.3(RHOBTB2):c.195G>A (p.Val65=) | not provided [RCV005153657] | benign | 8 | 23005374 | 23005374 | Human | | name |
| 15112606 | CV751078 | single nucleotide variant | NM_015178.3(RHOBTB2):c.234C>G (p.Val78=) | not provided [RCV000916943] | likely benign | 8 | 23005413 | 23005413 | Human | | name |
| 126736823 | CV1017032 | single nucleotide variant | NM_015178.3(RHOBTB2):c.56T>C (p.Val19Ala) | Developmental and epileptic encephalopathy, 64 [RCV001328623] | uncertain significance | 8 | 23004490 | 23004490 | Human | 1 | name |
| 150337416 | CV1165869 | single nucleotide variant | NM_015178.3(RHOBTB2):c.591G>A (p.Lys197=) | not provided [RCV001532610] | likely benign | 8 | 23006836 | 23006836 | Human | | name |
| 150437036 | CV1235511 | single nucleotide variant | NM_015178.3(RHOBTB2):c.864T>C (p.Ser288=) | Developmental and epileptic encephalopathy, 64 [RCV001796646]|not provided [RCV001644297] | benign | 8 | 23007109 | 23007109 | Human | 1 | name |
| 150551779 | CV1297568 | single nucleotide variant | NM_015178.3(RHOBTB2):c.47A>G (p.Lys16Arg) | not provided [RCV001767252] | uncertain significance | 8 | 23004481 | 23004481 | Human | | name |
| 151858099 | CV1363989 | single nucleotide variant | NM_015178.3(RHOBTB2):c.798G>A (p.Ala266=) | not provided [RCV001904942] | likely benign|uncertain significance | 8 | 23007043 | 23007043 | Human | | name |
| 151803324 | CV1364706 | single nucleotide variant | NM_015178.3(RHOBTB2):c.34G>A (p.Val12Ile) | not provided [RCV001991151] | uncertain significance | 8 | 23004468 | 23004468 | Human | | name |
| 151794100 | CV1390405 | single nucleotide variant | NM_015178.3(RHOBTB2):c.939C>T (p.Gly313=) | not provided [RCV001952320] | likely benign|uncertain significance | 8 | 23007184 | 23007184 | Human | | name |
| 151814284 | CV1460567 | single nucleotide variant | NM_015178.3(RHOBTB2):c.546C>T (p.Gly182=) | not provided [RCV001878582] | likely benign|uncertain significance | 8 | 23006791 | 23006791 | Human | | name |
| 152123892 | CV1527586 | single nucleotide variant | NM_015178.3(RHOBTB2):c.987T>C (p.His329=) | not provided [RCV002081944] | likely benign | 8 | 23007232 | 23007232 | Human | | name |
| 152051287 | CV1538609 | single nucleotide variant | NM_015178.3(RHOBTB2):c.861C>T (p.Thr287=) | not provided [RCV002189447] | likely benign | 8 | 23007106 | 23007106 | Human | | name |
| 152103185 | CV1548529 | single nucleotide variant | NM_015178.3(RHOBTB2):c.774C>T (p.His258=) | not provided [RCV002079252] | likely benign | 8 | 23007019 | 23007019 | Human | | name |
| 152071740 | CV1552181 | single nucleotide variant | NM_015178.3(RHOBTB2):c.795C>T (p.Cys265=) | not provided [RCV002148177] | benign|likely benign | 8 | 23007040 | 23007040 | Human | | name |
| 152074031 | CV1556771 | single nucleotide variant | NM_015178.3(RHOBTB2):c.669T>C (p.Asn223=) | not provided [RCV002111849] | likely benign | 8 | 23006914 | 23006914 | Human | | name |
| 152121755 | CV1562557 | single nucleotide variant | NM_015178.3(RHOBTB2):c.606C>T (p.Asn202=) | not provided [RCV002098250] | likely benign | 8 | 23006851 | 23006851 | Human | | name |
| 152123819 | CV1563914 | single nucleotide variant | NM_015178.3(RHOBTB2):c.978C>T (p.His326=) | not provided [RCV002175931] | likely benign | 8 | 23007223 | 23007223 | Human | | name |
| 152083524 | CV1569481 | single nucleotide variant | NM_015178.3(RHOBTB2):c.516G>A (p.Glu172=) | not provided [RCV002113079] | likely benign | 8 | 23006761 | 23006761 | Human | | name |
| 152167259 | CV1577400 | single nucleotide variant | NM_015178.3(RHOBTB2):c.897C>T (p.Asp299=) | not provided [RCV002204661] | likely benign | 8 | 23007142 | 23007142 | Human | | name |
| 152035396 | CV1583068 | single nucleotide variant | NM_015178.3(RHOBTB2):c.342C>G (p.Ser114=) | not provided [RCV002106898] | likely benign | 8 | 23006005 | 23006005 | Human | | name |
| 152065913 | CV1583571 | single nucleotide variant | NM_015178.3(RHOBTB2):c.615A>T (p.Arg205=) | not provided [RCV002110788] | benign | 8 | 23006860 | 23006860 | Human | | name |
| 152072887 | CV1597985 | single nucleotide variant | NM_015178.3(RHOBTB2):c.417C>A (p.Gly139=) | not provided [RCV002169524] | likely benign | 8 | 23006080 | 23006080 | Human | | name |
| 152172030 | CV1598946 | single nucleotide variant | NM_015178.3(RHOBTB2):c.729C>T (p.Ile243=) | not provided [RCV002143639] | benign | 8 | 23006974 | 23006974 | Human | | name |
| 152174646 | CV1602219 | single nucleotide variant | NM_015178.3(RHOBTB2):c.990C>T (p.His330=) | not provided [RCV002144506] | likely benign | 8 | 23007235 | 23007235 | Human | | name |
| 152099822 | CV1627333 | single nucleotide variant | NM_015178.3(RHOBTB2):c.870C>T (p.Ser290=) | not provided [RCV002095373] | likely benign | 8 | 23007115 | 23007115 | Human | | name |
| 152114467 | CV1628060 | single nucleotide variant | NM_015178.3(RHOBTB2):c.336C>G (p.Pro112=) | not provided [RCV002197214] | likely benign | 8 | 23005999 | 23005999 | Human | | name |
| 152093015 | CV1631895 | single nucleotide variant | NM_015178.3(RHOBTB2):c.789G>A (p.Pro263=) | not provided [RCV002132280] | benign | 8 | 23007034 | 23007034 | Human | | name |
| 152074263 | CV1635221 | single nucleotide variant | NM_015178.3(RHOBTB2):c.738C>T (p.Pro246=) | not provided [RCV002092011] | likely benign | 8 | 23006983 | 23006983 | Human | | name |
| 152035640 | CV1635932 | single nucleotide variant | NM_015178.3(RHOBTB2):c.621A>T (p.Ala207=) | not provided [RCV002106931] | likely benign | 8 | 23006866 | 23006866 | Human | | name |
| 152027396 | CV1636235 | single nucleotide variant | NM_015178.3(RHOBTB2):c.924C>T (p.Pro308=) | not provided [RCV002085117] | likely benign | 8 | 23007169 | 23007169 | Human | | name |
| 152167533 | CV1644723 | single nucleotide variant | NM_015178.3(RHOBTB2):c.309G>A (p.Val103=) | not provided [RCV002142185] | likely benign | 8 | 23005972 | 23005972 | Human | | name |
| 152115979 | CV1646426 | single nucleotide variant | NM_015178.3(RHOBTB2):c.441T>C (p.Ala147=) | not provided [RCV002135100] | likely benign | 8 | 23006104 | 23006104 | Human | | name |
| 152126492 | CV1665932 | single nucleotide variant | NM_015178.3(RHOBTB2):c.858C>T (p.Ser286=) | not provided [RCV002198745] | likely benign | 8 | 23007103 | 23007103 | Human | | name |
| 156361720 | CV1900586 | single nucleotide variant | NM_015178.3(RHOBTB2):c.414G>A (p.Val138=) | not provided [RCV002581770] | uncertain significance | 8 | 23006077 | 23006077 | Human | | name |
| 156408211 | CV1911513 | single nucleotide variant | NM_015178.3(RHOBTB2):c.424T>C (p.Leu142=) | not provided [RCV002607156] | likely benign | 8 | 23006087 | 23006087 | Human | | name |
| 156156628 | CV1926250 | single nucleotide variant | NM_015178.3(RHOBTB2):c.523C>A (p.Arg175=) | not provided [RCV002624205] | likely benign | 8 | 23006768 | 23006768 | Human | | name |
| 156081689 | CV1982859 | single nucleotide variant | NM_015178.3(RHOBTB2):c.624C>T (p.Leu208=) | not provided [RCV002638920] | likely benign | 8 | 23006869 | 23006869 | Human | | name |
| 156338539 | CV1984645 | single nucleotide variant | NM_015178.3(RHOBTB2):c.927G>A (p.Ser309=) | not provided [RCV002631310] | likely benign | 8 | 23007172 | 23007172 | Human | | name |
| 156348167 | CV1989240 | single nucleotide variant | NM_015178.3(RHOBTB2):c.702A>C (p.Leu234=) | not provided [RCV002631789] | likely benign | 8 | 23006947 | 23006947 | Human | | name |
| 156106653 | CV1992317 | single nucleotide variant | NM_015178.3(RHOBTB2):c.855C>T (p.Leu285=) | not provided [RCV002622412] | likely benign | 8 | 23007100 | 23007100 | Human | | name |
| 155947990 | CV1996544 | single nucleotide variant | NM_015178.3(RHOBTB2):c.753C>T (p.Ser251=) | not provided [RCV002685856] | likely benign | 8 | 23006998 | 23006998 | Human | | name |
| 156172364 | CV2003838 | single nucleotide variant | NM_015178.3(RHOBTB2):c.360C>T (p.Thr120=) | not provided [RCV002642757] | likely benign | 8 | 23006023 | 23006023 | Human | | name |
| 156374875 | CV2049251 | single nucleotide variant | NM_015178.3(RHOBTB2):c.73G>A (p.Val25Met) | Inborn genetic diseases [RCV004661479]|not provided [RCV002814608] | likely benign|uncertain significance | 8 | 23004507 | 23004507 | Human | 1 | name |
| 156210995 | CV2074236 | single nucleotide variant | NM_015178.3(RHOBTB2):c.430C>T (p.Leu144=) | not provided [RCV002829296] | likely benign | 8 | 23006093 | 23006093 | Human | | name |
| 155994208 | CV2145786 | single nucleotide variant | NM_015178.3(RHOBTB2):c.819G>A (p.Gln273=) | not provided [RCV002996711] | likely benign | 8 | 23007064 | 23007064 | Human | | name |
| 156242772 | CV2148763 | single nucleotide variant | NM_015178.3(RHOBTB2):c.750C>T (p.Ser250=) | not provided [RCV003008160] | likely benign | 8 | 23006995 | 23006995 | Human | | name |
| 155935902 | CV2149895 | single nucleotide variant | NM_015178.3(RHOBTB2):c.393C>T (p.Pro131=) | not provided [RCV003013936] | likely benign | 8 | 23006056 | 23006056 | Human | | name |
| 156318740 | CV2155224 | single nucleotide variant | NM_015178.3(RHOBTB2):c.823C>A (p.Arg275=) | not provided [RCV003011553] | likely benign | 8 | 23007068 | 23007068 | Human | | name |
| 156109575 | CV2177259 | single nucleotide variant | NM_015178.3(RHOBTB2):c.71C>T (p.Ala24Val) | not provided [RCV003055036] | benign|uncertain significance | 8 | 23004505 | 23004505 | Human | | name |
| 156132857 | CV2181327 | single nucleotide variant | NM_015178.3(RHOBTB2):c.957C>T (p.His319=) | not provided [RCV003039762] | likely benign | 8 | 23007202 | 23007202 | Human | | name |
| 156133694 | CV2181379 | single nucleotide variant | NM_015178.3(RHOBTB2):c.423G>A (p.Gln141=) | not provided [RCV003039789] | likely benign | 8 | 23006086 | 23006086 | Human | | name |
| 243050708 | CV2419691 | deletion | NM_015178.3(RHOBTB2):c.294del (p.Arg99fs) | not provided [RCV003156623] | uncertain significance | 8 | 23005471 | 23005471 | Human | | name |
| 401894991 | CV2792658 | single nucleotide variant | NM_014836.5(RHOBTB1):c.43A>C (p.Ile15Leu) | not specified [RCV004365446] | uncertain significance | 10 | 60911500 | 60911500 | Human | | name |
| 401925718 | CV2820960 | single nucleotide variant | NM_015178.3(RHOBTB2):c.861C>G (p.Thr287=) | not provided [RCV003436801] | likely benign | 8 | 23007106 | 23007106 | Human | | name |
| 405128400 | CV2893311 | single nucleotide variant | NM_015178.3(RHOBTB2):c.621A>G (p.Ala207=) | not provided [RCV003559800] | likely benign | 8 | 23006866 | 23006866 | Human | | name |
| 405111059 | CV2903003 | single nucleotide variant | NM_015178.3(RHOBTB2):c.786C>T (p.Asp262=) | not provided [RCV003557900] | likely benign | 8 | 23007031 | 23007031 | Human | | name |
| 405074582 | CV2941268 | single nucleotide variant | NM_015178.3(RHOBTB2):c.582C>T (p.Phe194=) | not provided [RCV003664138] | likely benign | 8 | 23006827 | 23006827 | Human | | name |
| 405067743 | CV2944619 | single nucleotide variant | NM_015178.3(RHOBTB2):c.507G>C (p.Leu169=) | not provided [RCV003663792] | uncertain significance | 8 | 23006752 | 23006752 | Human | | name |
| 402499371 | CV2946874 | single nucleotide variant | NM_015178.3(RHOBTB2):c.52G>A (p.Val18Ile) | not provided [RCV003661446] | uncertain significance | 8 | 23004486 | 23004486 | Human | | name |
| 405220691 | CV2965948 | single nucleotide variant | NM_015178.3(RHOBTB2):c.597C>T (p.Val199=) | not provided [RCV003680634] | likely benign | 8 | 23006842 | 23006842 | Human | | name |
| 405010590 | CV2987005 | single nucleotide variant | NM_015178.3(RHOBTB2):c.930G>A (p.Glu310=) | not provided [RCV003693886] | likely benign | 8 | 23007175 | 23007175 | Human | | name |
| 405206495 | CV2994272 | single nucleotide variant | NM_015178.3(RHOBTB2):c.573G>A (p.Val191=) | not provided [RCV003678803] | likely benign | 8 | 23006818 | 23006818 | Human | | name |
| 402511460 | CV2994991 | single nucleotide variant | NM_015178.3(RHOBTB2):c.80A>G (p.Lys27Arg) | not provided [RCV003689591] | uncertain significance | 8 | 23004514 | 23004514 | Human | | name |
| 405015493 | CV2995293 | single nucleotide variant | NM_015178.3(RHOBTB2):c.778C>T (p.Leu260=) | not provided [RCV003694354] | likely benign | 8 | 23007023 | 23007023 | Human | | name |
| 402518703 | CV3002289 | single nucleotide variant | NM_015178.3(RHOBTB2):c.91A>G (p.Ile31Val) | not provided [RCV003690126] | uncertain significance | 8 | 23004525 | 23004525 | Human | | name |
| 405024622 | CV3002912 | single nucleotide variant | NM_015178.3(RHOBTB2):c.789G>C (p.Pro263=) | not provided [RCV003695042] | likely benign | 8 | 23007034 | 23007034 | Human | | name |
| 405240843 | CV3003531 | single nucleotide variant | NM_015178.3(RHOBTB2):c.780G>A (p.Leu260=) | not provided [RCV003719077] | likely benign | 8 | 23007025 | 23007025 | Human | | name |
| 402501662 | CV3035393 | single nucleotide variant | NM_015178.3(RHOBTB2):c.630C>T (p.Ser210=) | not provided [RCV003714736] | likely benign | 8 | 23006875 | 23006875 | Human | | name |
| 405190199 | CV3117993 | single nucleotide variant | NM_015178.3(RHOBTB2):c.921C>A (p.Gly307=) | not provided [RCV003820903] | likely benign | 8 | 23007166 | 23007166 | Human | | name |
| 405068251 | CV3140150 | single nucleotide variant | NM_015178.3(RHOBTB2):c.879T>C (p.Tyr293=) | not provided [RCV003833305] | likely benign | 8 | 23007124 | 23007124 | Human | | name |
| 405175664 | CV3152274 | single nucleotide variant | NM_015178.3(RHOBTB2):c.475T>C (p.Leu159=) | not provided [RCV003858229] | likely benign | 8 | 23006138 | 23006138 | Human | | name |
| 405219168 | CV3161309 | single nucleotide variant | NM_015178.3(RHOBTB2):c.420C>T (p.Cys140=) | not provided [RCV003863178] | likely benign | 8 | 23006083 | 23006083 | Human | | name |
| 405226240 | CV3169383 | single nucleotide variant | NM_015178.3(RHOBTB2):c.723G>A (p.Pro241=) | not provided [RCV003864407] | likely benign | 8 | 23006968 | 23006968 | Human | | name |
| 404990706 | CV3176182 | single nucleotide variant | NM_015178.3(RHOBTB2):c.594C>T (p.Asp198=) | not provided [RCV003881507] | likely benign | 8 | 23006839 | 23006839 | Human | | name |
| 405734189 | CV3309412 | single nucleotide variant | NM_014836.5(RHOBTB1):c.53T>C (p.Val18Ala) | not specified [RCV004451418] | uncertain significance | 10 | 60911490 | 60911490 | Human | | name |
| 597776206 | CV3586559 | single nucleotide variant | NM_014836.5(RHOBTB1):c.34G>A (p.Val12Ile) | not specified [RCV004852454] | uncertain significance | 10 | 60911509 | 60911509 | Human | | name |
| 597686518 | CV3586573 | single nucleotide variant | NM_014899.4(RHOBTB3):c.80C>T (p.Thr27Ile) | not specified [RCV004852460] | uncertain significance | 5 | 95731936 | 95731936 | Human | | name |
| 597932124 | CV3742613 | single nucleotide variant | NM_015178.3(RHOBTB2):c.708C>A (p.Pro236=) | not provided [RCV005076052] | likely benign | 8 | 23006953 | 23006953 | Human | | name |
| 597830966 | CV3743722 | single nucleotide variant | NM_015178.3(RHOBTB2):c.756C>T (p.Ser252=) | not provided [RCV005062539] | likely benign | 8 | 23007001 | 23007001 | Human | | name |
| 597928890 | CV3749192 | single nucleotide variant | NM_015178.3(RHOBTB2):c.906G>A (p.Glu302=) | not provided [RCV005075648] | likely benign | 8 | 23007151 | 23007151 | Human | | name |
| 597941678 | CV3757442 | single nucleotide variant | NM_015178.3(RHOBTB2):c.70G>A (p.Ala24Thr) | not provided [RCV005077628] | uncertain significance | 8 | 23004504 | 23004504 | Human | | name |
| 597956042 | CV3809609 | single nucleotide variant | NM_015178.3(RHOBTB2):c.351T>C (p.His117=) | not provided [RCV005162335] | likely benign | 8 | 23006014 | 23006014 | Human | | name |
| 597845031 | CV3827555 | single nucleotide variant | NM_015178.3(RHOBTB2):c.510C>G (p.Pro170=) | not provided [RCV005172826] | likely benign | 8 | 23006755 | 23006755 | Human | | name |
| 597956451 | CV3838220 | single nucleotide variant | NM_015178.3(RHOBTB2):c.417C>T (p.Gly139=) | not provided [RCV005191595] | likely benign | 8 | 23006080 | 23006080 | Human | | name |
| 597871181 | CV3849282 | single nucleotide variant | NM_015178.3(RHOBTB2):c.567C>T (p.Ser189=) | not provided [RCV005197463] | likely benign | 8 | 23006812 | 23006812 | Human | | name |
| 598190172 | CV3902718 | single nucleotide variant | NM_014899.4(RHOBTB3):c.83A>T (p.Tyr28Phe) | not specified [RCV005266813] | uncertain significance | 5 | 95731939 | 95731939 | Human | | name |
| 15130336 | CV711451 | single nucleotide variant | NM_015178.3(RHOBTB2):c.438C>T (p.Tyr146=) | not provided [RCV000964418] | benign | 8 | 23006101 | 23006101 | Human | | name |
| 15149923 | CV711452 | single nucleotide variant | NM_015178.3(RHOBTB2):c.717G>A (p.Pro239=) | not provided [RCV000967844] | benign | 8 | 23006962 | 23006962 | Human | | name |
| 15190938 | CV723006 | single nucleotide variant | NM_015178.3(RHOBTB2):c.768C>T (p.Pro256=) | not provided [RCV000888239] | benign | 8 | 23007013 | 23007013 | Human | | name |
| 15120569 | CV783077 | single nucleotide variant | NM_015178.3(RHOBTB2):c.792C>A (p.Leu264=) | not provided [RCV000979311] | likely benign | 8 | 23007037 | 23007037 | Human | | name |
| 8626060 | CV81204 | single nucleotide variant | NM_014899.3(RHOBTB3):c.816C>T (p.Ile272=) | Malignant melanoma [RCV000061282] | not provided | 5 | 95755529 | 95755529 | Human | | name |
| 126746459 | CV1015409 | single nucleotide variant | NM_015178.3(RHOBTB2):c.208C>T (p.Arg70Ter) | Developmental and epileptic encephalopathy, 64 [RCV001328473]|not provided [RCV003438742] | uncertain significance | 8 | 23005387 | 23005387 | Human | 1 | name |
| 150550286 | CV1302734 | single nucleotide variant | NM_015178.3(RHOBTB2):c.218T>C (p.Val73Ala) | not provided [RCV001752856] | uncertain significance | 8 | 23005397 | 23005397 | Human | | name |
| 151759159 | CV1340641 | single nucleotide variant | NM_015178.3(RHOBTB2):c.143C>T (p.Thr48Met) | not provided [RCV001913775] | likely benign|uncertain significance | 8 | 23004577 | 23004577 | Human | | name |
| 151727395 | CV1408227 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1680C>T (p.Thr560=) | not provided [RCV001891895] | likely benign | 8 | 23010597 | 23010597 | Human | | name |
| 151812406 | CV1417597 | deletion | NM_015178.3(RHOBTB2):c.723del (p.Ile242fs) | not provided [RCV002029099] | uncertain significance | 8 | 23006968 | 23006968 | Human | | name |
| 151848875 | CV1439930 | deletion | NM_015178.3(RHOBTB2):c.920del (p.Gly307fs) | not provided [RCV002016307] | uncertain significance | 8 | 23007160 | 23007160 | Human | | name |
| 151888233 | CV1502023 | single nucleotide variant | NM_015178.3(RHOBTB2):c.242G>A (p.Arg81His) | Inborn genetic diseases [RCV005271421]|not provided [RCV001942547] | uncertain significance | 8 | 23005421 | 23005421 | Human | 1 | name |
| 151828577 | CV1510171 | single nucleotide variant | NM_015178.3(RHOBTB2):c.179G>A (p.Arg60His) | not provided [RCV001920266] | likely benign|uncertain significance | 8 | 23004613 | 23004613 | Human | | name |
| 152053763 | CV1523772 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1692C>T (p.Thr564=) | not provided [RCV002127533] | likely benign | 8 | 23010609 | 23010609 | Human | | name |
| 152065293 | CV1525948 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1140G>A (p.Pro380=) | not provided [RCV002128888] | likely benign | 8 | 23007385 | 23007385 | Human | | name |
| 152175726 | CV1527124 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1347C>G (p.Ala449=) | not provided [RCV002163862] | benign | 8 | 23007592 | 23007592 | Human | | name |
| 152052487 | CV1531651 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1135C>T (p.Leu379=) | not provided [RCV002072551] | likely benign | 8 | 23007380 | 23007380 | Human | | name |
| 152176299 | CV1541422 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1737C>T (p.Asn579=) | not provided [RCV002164444] | likely benign | 8 | 23010654 | 23010654 | Human | | name |
| 152088969 | CV1541471 | single nucleotide variant | NM_015178.3(RHOBTB2):c.209G>A (p.Arg70Gln) | not provided [RCV002171574] | likely benign | 8 | 23005388 | 23005388 | Human | | name |
| 152157130 | CV1541712 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1923C>T (p.Asn641=) | not provided [RCV002103091] | likely benign | 8 | 23015700 | 23015700 | Human | | name |
| 152119692 | CV1547144 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1419C>T (p.Phe473=) | not provided [RCV002154098] | likely benign | 8 | 23007664 | 23007664 | Human | | name |
| 152076327 | CV1551435 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1824C>T (p.Ile608=) | not provided [RCV002192458] | likely benign | 8 | 23014742 | 23014742 | Human | | name |
| 152073135 | CV1551767 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1365C>T (p.Leu455=) | not provided [RCV002075371] | likely benign | 8 | 23007610 | 23007610 | Human | | name |
| 152044073 | CV1552221 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1701C>T (p.Pro567=) | not provided [RCV002166064] | benign|likely benign | 8 | 23010618 | 23010618 | Human | | name |
| 152054620 | CV1564332 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1773G>A (p.Glu591=) | not provided [RCV002146081] | likely benign | 8 | 23014691 | 23014691 | Human | | name |
| 152130104 | CV1584423 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1524T>C (p.Asp508=) | not provided [RCV002082748] | likely benign | 8 | 23008015 | 23008015 | Human | | name |
| 152050505 | CV1585741 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2139G>C (p.Ser713=) | not provided [RCV002145631] | likely benign | 8 | 23017424 | 23017424 | Human | | name |
| 152028283 | CV1586829 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1305G>C (p.Thr435=) | not provided [RCV002085414] | likely benign | 8 | 23007550 | 23007550 | Human | | name |
| 152106159 | CV1591622 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1071C>T (p.Ser357=) | not provided [RCV002214838] | likely benign | 8 | 23007316 | 23007316 | Human | | name |
| 152093419 | CV1593445 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1659C>T (p.Ala553=) | not provided [RCV002094507] | likely benign | 8 | 23010576 | 23010576 | Human | | name |
| 152126335 | CV1596223 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1122C>T (p.Asn374=) | not provided [RCV002118503] | benign|likely benign | 8 | 23007367 | 23007367 | Human | | name |
| 152079668 | CV1597017 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1398C>T (p.Asn466=) | not provided [RCV002092682] | likely benign | 8 | 23007643 | 23007643 | Human | | name |
| 152096264 | CV1599680 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1449C>T (p.His483=) | not provided [RCV002151242] | benign|likely benign | 8 | 23007694 | 23007694 | Human | | name |
| 152149934 | CV1601575 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2139G>A (p.Ser713=) | not provided [RCV002158023] | likely benign | 8 | 23017424 | 23017424 | Human | | name |
| 152152902 | CV1609052 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1185C>T (p.Ser395=) | not provided [RCV002122005] | likely benign | 8 | 23007430 | 23007430 | Human | | name |
| 152041754 | CV1609088 | single nucleotide variant | NM_015178.3(RHOBTB2):c.248G>A (p.Trp83Ter) | not provided [RCV002188355] | likely benign|conflicting interpretations of pathogenicity | 8 | 23005427 | 23005427 | Human | | name |
| 152076407 | CV1616943 | single nucleotide variant | NM_015178.3(RHOBTB2):c.202C>T (p.Arg68Cys) | not provided [RCV002210654] | likely benign | 8 | 23005381 | 23005381 | Human | | name |
| 152085108 | CV1623016 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1836C>T (p.Val612=) | not provided [RCV002113276] | likely benign | 8 | 23014754 | 23014754 | Human | | name |
| 152136225 | CV1624824 | duplication | NM_015178.3(RHOBTB2):c.924dup (p.Ser309fs) | not provided [RCV002177454] | likely benign | 8 | 23007165 | 23007166 | Human | | name |
| 152050598 | CV1626404 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1299G>A (p.Leu433=) | not provided [RCV002189366] | likely benign | 8 | 23007544 | 23007544 | Human | | name |
| 152071327 | CV1633760 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1215C>T (p.Leu405=) | not provided [RCV002191823] | likely benign | 8 | 23007460 | 23007460 | Human | | name |
| 152093928 | CV1634314 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1833C>T (p.Asp611=) | not provided [RCV002213103] | likely benign | 8 | 23014751 | 23014751 | Human | | name |
| 152036023 | CV1636165 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2055T>C (p.Arg685=) | not provided [RCV002106992] | likely benign | 8 | 23017340 | 23017340 | Human | | name |
| 152097139 | CV1636590 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1038C>T (p.Asp346=) | not provided [RCV002132783] | likely benign | 8 | 23007283 | 23007283 | Human | | name |
| 152081736 | CV1641414 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1536C>T (p.Ser512=) | not provided [RCV002211510] | likely benign | 8 | 23008027 | 23008027 | Human | | name |
| 152067431 | CV1647179 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1803G>A (p.Ala601=) | not provided [RCV002129159] | likely benign | 8 | 23014721 | 23014721 | Human | | name |
| 152070351 | CV1650776 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1941C>A (p.Pro647=) | not provided [RCV002147993] | likely benign | 8 | 23015718 | 23015718 | Human | | name |
| 152057727 | CV1651874 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1809G>A (p.Gln603=) | not provided [RCV002190167] | likely benign | 8 | 23014727 | 23014727 | Human | | name |
| 152058516 | CV1652033 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1803G>C (p.Ala601=) | not provided [RCV002190251] | likely benign | 8 | 23014721 | 23014721 | Human | | name |
| 155711828 | CV1775870 | single nucleotide variant | NM_015178.3(RHOBTB2):c.214G>A (p.Val72Met) | not provided [RCV002296231] | benign|uncertain significance | 8 | 23005393 | 23005393 | Human | | name |
| 155721004 | CV1781283 | single nucleotide variant | NM_015178.3(RHOBTB2):c.146A>C (p.His49Pro) | not provided [RCV002306359] | uncertain significance | 8 | 23004580 | 23004580 | Human | | name |
| 156003869 | CV1906146 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1101C>T (p.Ser367=) | not provided [RCV003098930] | likely benign | 8 | 23007346 | 23007346 | Human | | name |
| 156019494 | CV1914926 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1230G>T (p.Arg410=) | not provided [RCV002636637] | likely benign | 8 | 23007475 | 23007475 | Human | | name |
| 156364840 | CV1928629 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1269G>A (p.Pro423=) | not provided [RCV002632932] | likely benign | 8 | 23007514 | 23007514 | Human | | name |
| 156444887 | CV1949029 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1305G>A (p.Thr435=) | not provided [RCV003115817] | likely benign | 8 | 23007550 | 23007550 | Human | | name |
| 156246640 | CV1957004 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1014C>T (p.Phe338=) | not provided [RCV002576405] | likely benign | 8 | 23007259 | 23007259 | Human | | name |
| 156213027 | CV1963081 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1044C>T (p.Cys348=) | not provided [RCV002575224] | likely benign | 8 | 23007289 | 23007289 | Human | | name |
| 156170443 | CV1968286 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1218C>T (p.Thr406=) | not provided [RCV002594754] | likely benign | 8 | 23007463 | 23007463 | Human | | name |
| 156218277 | CV1980443 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1374T>C (p.Phe458=) | not provided [RCV002626350] | likely benign | 8 | 23007619 | 23007619 | Human | | name |
| 156114810 | CV1985888 | single nucleotide variant | NM_015178.3(RHOBTB2):c.103G>A (p.Ala35Thr) | not provided [RCV002622717] | uncertain significance | 8 | 23004537 | 23004537 | Human | | name |
| 156230285 | CV2002371 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1263C>T (p.Ile421=) | not provided [RCV002667553] | likely benign | 8 | 23007508 | 23007508 | Human | | name |
| 156393497 | CV2002435 | single nucleotide variant | NM_015178.3(RHOBTB2):c.101G>A (p.Arg34His) | not provided [RCV002681001] | likely benign|uncertain significance | 8 | 23004535 | 23004535 | Human | | name |
| 156354519 | CV2004947 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1279C>A (p.Arg427=) | not provided [RCV002675825] | likely benign | 8 | 23007524 | 23007524 | Human | | name |
| 155902711 | CV2007111 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1788C>T (p.Thr596=) | not provided [RCV002681202] | likely benign | 8 | 23014706 | 23014706 | Human | | name |
| 156177736 | CV2023167 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1596A>G (p.Pro532=) | not provided [RCV002765517] | likely benign | 8 | 23008087 | 23008087 | Human | | name |
| 156285267 | CV2043100 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1107G>A (p.Gly369=) | not provided [RCV002770537] | likely benign | 8 | 23007352 | 23007352 | Human | | name |
| 156289453 | CV2050345 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1326G>A (p.Glu442=) | not provided [RCV002807283] | likely benign | 8 | 23007571 | 23007571 | Human | | name |
| 156083816 | CV2060344 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1284T>C (p.Ala428=) | not provided [RCV002823943] | likely benign | 8 | 23007529 | 23007529 | Human | | name |
| 156221507 | CV2067913 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1578T>A (p.Ala526=) | not provided [RCV002829702] | likely benign | 8 | 23008069 | 23008069 | Human | | name |
| 155947031 | CV2068872 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1518G>A (p.Leu506=) | not provided [RCV002862132] | likely benign | 8 | 23008009 | 23008009 | Human | | name |
| 156191497 | CV2086769 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1539C>T (p.Ala513=) | not provided [RCV002852153] | likely benign | 8 | 23008030 | 23008030 | Human | | name |
| 156024346 | CV2145538 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1380G>T (p.Leu460=) | not provided [RCV003018382] | likely benign | 8 | 23007625 | 23007625 | Human | | name |
| 156192740 | CV2146319 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1104C>T (p.Asp368=) | not provided [RCV003006054] | likely benign | 8 | 23007349 | 23007349 | Human | | name |
| 155918659 | CV2152634 | single nucleotide variant | NM_015178.3(RHOBTB2):c.100C>T (p.Arg34Cys) | not provided [RCV002991789] | uncertain significance | 8 | 23004534 | 23004534 | Human | | name |
| 156315281 | CV2158592 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1552T>C (p.Leu518=) | not provided [RCV003028822] | likely benign | 8 | 23008043 | 23008043 | Human | | name |
| 156330032 | CV2180914 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1365C>G (p.Leu455=) | not provided [RCV003047155] | likely benign | 8 | 23007610 | 23007610 | Human | | name |
| 156058144 | CV2239184 | single nucleotide variant | NM_014899.4(RHOBTB3):c.112G>A (p.Asp38Asn) | not specified [RCV004112167] | uncertain significance | 5 | 95731968 | 95731968 | Human | | name |
| 243060182 | CV2413749 | single nucleotide variant | NM_015178.3(RHOBTB2):c.276C>G (p.Asp92Glu) | Developmental and epileptic encephalopathy, 64 [RCV003135771] | uncertain significance | 8 | 23005455 | 23005455 | Human | 1 | name |
| 243050021 | CV2417306 | single nucleotide variant | NM_015178.3(RHOBTB2):c.280C>T (p.Arg94Cys) | Developmental and epileptic encephalopathy, 64 [RCV004799683]|not provided [RCV003152178] | likely pathogenic | 8 | 23005459 | 23005459 | Human | 1 | name |
| 329848418 | CV2523166 | single nucleotide variant | NM_015178.3(RHOBTB2):c.268C>T (p.His90Tyr) | See cases [RCV003224925] | likely pathogenic | 8 | 23005447 | 23005447 | Human | | name |
| 401750290 | CV2737239 | single nucleotide variant | NM_001160036.2(RHOBTB2):c.2T>C (p.Met1Thr) | not provided [RCV003314178] | uncertain significance | 8 | 22994585 | 22994585 | Human | | name |
| 401873009 | CV2751998 | single nucleotide variant | NM_015178.3(RHOBTB2):c.103G>T (p.Ala35Ser) | Developmental and epileptic encephalopathy, 64 [RCV003335875] | likely pathogenic | 8 | 23004537 | 23004537 | Human | 1 | name |
| 405169987 | CV2854267 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1689C>T (p.Phe563=) | not provided [RCV003542088] | likely benign | 8 | 23010606 | 23010606 | Human | | name |
| 405195274 | CV2868717 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1332C>T (p.Asp444=) | not provided [RCV003550788] | likely benign | 8 | 23007577 | 23007577 | Human | | name |
| 402465624 | CV2916660 | single nucleotide variant | NM_015178.3(RHOBTB2):c.277C>G (p.Arg93Gly) | not provided [RCV003569205] | uncertain significance | 8 | 23005456 | 23005456 | Human | | name |
| 405223990 | CV2919811 | single nucleotide variant | NM_015178.3(RHOBTB2):c.290A>G (p.Tyr97Cys) | not provided [RCV003568851] | uncertain significance | 8 | 23005469 | 23005469 | Human | | name |
| 402478704 | CV2924825 | duplication | NM_015178.3(RHOBTB2):c.722dup (p.Ile242fs) | not provided [RCV003571835] | uncertain significance | 8 | 23006962 | 23006963 | Human | | name |
| 402483841 | CV2937651 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1131G>C (p.Gly377=) | not provided [RCV003659892] | likely benign | 8 | 23007376 | 23007376 | Human | | name |
| 405135396 | CV2962971 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1074T>C (p.Gly358=) | not provided [RCV003668746] | likely benign | 8 | 23007319 | 23007319 | Human | | name |
| 405219847 | CV2968797 | deletion | NM_015178.3(RHOBTB2):c.955del (p.His319fs) | not provided [RCV003680373] | conflicting interpretations of pathogenicity|uncertain significance | 8 | 23007199 | 23007199 | Human | | name |
| 405245337 | CV2969102 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1758G>A (p.Leu586=) | not provided [RCV003685129] | likely benign | 8 | 23010675 | 23010675 | Human | | name |
| 405212343 | CV2971068 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1614C>T (p.Thr538=) | not provided [RCV003679575] | likely benign | 8 | 23008105 | 23008105 | Human | | name |
| 402477648 | CV2983860 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1701C>A (p.Pro567=) | not provided [RCV003686224] | likely benign | 8 | 23010618 | 23010618 | Human | | name |
| 404980327 | CV3009878 | single nucleotide variant | NM_015178.3(RHOBTB2):c.203G>T (p.Arg68Leu) | not provided [RCV003691112] | uncertain significance | 8 | 23005382 | 23005382 | Human | | name |
| 405027703 | CV3015524 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2169C>T (p.Ser723=) | not provided [RCV003695333] | likely benign | 8 | 23017454 | 23017454 | Human | | name |
| 405046068 | CV3017847 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1914C>T (p.Asn638=) | not provided [RCV003696665] | likely benign | 8 | 23015691 | 23015691 | Human | | name |
| 405091494 | CV3021733 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1746C>T (p.Cys582=) | not provided [RCV003699706] | likely benign | 8 | 23010663 | 23010663 | Human | | name |
| 402482907 | CV3036603 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1665G>A (p.Leu555=) | not provided [RCV003713027] | likely benign | 8 | 23010582 | 23010582 | Human | | name |
| 405159653 | CV3037450 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1362G>C (p.Leu454=) | not provided [RCV003703680] | likely benign | 8 | 23007607 | 23007607 | Human | | name |
| 405199342 | CV3056628 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1743C>G (p.Leu581=) | not provided [RCV003730605] | likely benign | 8 | 23010660 | 23010660 | Human | | name |
| 404999183 | CV3120147 | single nucleotide variant | NM_015178.3(RHOBTB2):c.232G>A (p.Val78Ile) | not provided [RCV003827937] | benign | 8 | 23005411 | 23005411 | Human | | name |
| 405139486 | CV3125547 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1461C>A (p.Thr487=) | not provided [RCV003816654] | likely benign | 8 | 23007706 | 23007706 | Human | | name |
| 405131308 | CV3133447 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1017G>T (p.Leu339=) | not provided [RCV003838417] | likely benign | 8 | 23007262 | 23007262 | Human | | name |
| 405105347 | CV3139872 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2172G>A (p.Ser724=) | not provided [RCV003835283] | likely benign | 8 | 23017457 | 23017457 | Human | | name |
| 405068269 | CV3140151 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1248G>A (p.Lys416=) | not provided [RCV003833306] | likely benign | 8 | 23007493 | 23007493 | Human | | name |
| 405041478 | CV3141146 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1050C>T (p.Ser350=) | not provided [RCV003831439] | likely benign | 8 | 23007295 | 23007295 | Human | | name |
| 405177628 | CV3147007 | deletion | NM_015178.3(RHOBTB2):c.584del (p.Gly195fs) | not provided [RCV003842103] | likely benign | 8 | 23006828 | 23006828 | Human | | name |
| 405170601 | CV3149966 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1035T>C (p.Phe345=) | not provided [RCV003841437] | likely benign | 8 | 23007280 | 23007280 | Human | | name |
| 405222537 | CV3158284 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2106C>T (p.Leu702=) | not provided [RCV003863780] | likely benign | 8 | 23017391 | 23017391 | Human | | name |
| 405209910 | CV3162686 | single nucleotide variant | NM_015178.3(RHOBTB2):c.277C>T (p.Arg93Cys) | not provided [RCV003861985] | likely benign | 8 | 23005456 | 23005456 | Human | | name |
| 405734302 | CV3309425 | single nucleotide variant | NM_014899.4(RHOBTB3):c.234A>G (p.Ile78Met) | not specified [RCV004451431] | uncertain significance | 5 | 95736894 | 95736894 | Human | | name |
| 405734316 | CV3309427 | single nucleotide variant | NM_014899.4(RHOBTB3):c.275G>A (p.Gly92Asp) | not specified [RCV004451433] | uncertain significance | 5 | 95736935 | 95736935 | Human | | name |
| 407474614 | CV3472925 | single nucleotide variant | NM_014836.5(RHOBTB1):c.122C>T (p.Thr41Met) | not specified [RCV004663044] | uncertain significance | 10 | 60911421 | 60911421 | Human | | name |
| 597776226 | CV3586571 | single nucleotide variant | NM_014899.4(RHOBTB3):c.259C>G (p.Arg87Gly) | not specified [RCV004852459] | uncertain significance | 5 | 95736919 | 95736919 | Human | | name |
| 597686528 | CV3586574 | single nucleotide variant | NM_014899.4(RHOBTB3):c.115G>C (p.Glu39Gln) | not specified [RCV004852461] | uncertain significance | 5 | 95731971 | 95731971 | Human | | name |
| 597964904 | CV3750990 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1692C>G (p.Thr564=) | not provided [RCV005082552] | likely benign | 8 | 23010609 | 23010609 | Human | | name |
| 597897409 | CV3782386 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1755C>T (p.His585=) | not provided [RCV005126611] | likely benign | 8 | 23010672 | 23010672 | Human | | name |
| 597848069 | CV3792904 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1836C>A (p.Val612=) | not provided [RCV005145040] | likely benign | 8 | 23014754 | 23014754 | Human | | name |
| 597958017 | CV3796872 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2079C>T (p.Leu693=) | not provided [RCV005137770] | likely benign | 8 | 23017364 | 23017364 | Human | | name |
| 597885544 | CV3799989 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1506G>C (p.Val502=) | not provided [RCV005150468] | likely benign | 8 | 23007997 | 23007997 | Human | | name |
| 597933885 | CV3810813 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1938C>T (p.Phe646=) | not provided [RCV005157522] | likely benign | 8 | 23015715 | 23015715 | Human | | name |
| 597943994 | CV3812432 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1599T>C (p.Phe533=) | not provided [RCV005159642] | likely benign | 8 | 23008090 | 23008090 | Human | | name |
| 597862270 | CV3813873 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1392G>A (p.Val464=) | not provided [RCV005146941] | likely benign | 8 | 23007637 | 23007637 | Human | | name |
| 597927573 | CV3819870 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1308G>C (p.Gly436=) | not provided [RCV005156570] | likely benign | 8 | 23007553 | 23007553 | Human | | name |
| 597913442 | CV3833796 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1312C>T (p.Leu438=) | not provided [RCV005183155] | likely benign | 8 | 23007557 | 23007557 | Human | | name |
| 597889039 | CV3839562 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1983C>T (p.Phe661=) | not provided [RCV005179454] | likely benign | 8 | 23017268 | 23017268 | Human | | name |
| 597857001 | CV3849804 | single nucleotide variant | NM_015178.3(RHOBTB2):c.179G>C (p.Arg60Pro) | not provided [RCV005195313] | uncertain significance | 8 | 23004613 | 23004613 | Human | | name |
| 597908930 | CV3853806 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1440G>A (p.Lys480=) | not provided [RCV005203289] | likely benign | 8 | 23007685 | 23007685 | Human | | name |
| 597845652 | CV3880477 | single nucleotide variant | NM_015178.3(RHOBTB2):c.200A>G (p.Glu67Gly) | not provided [RCV005227365] | uncertain significance | 8 | 23005379 | 23005379 | Human | | name |
| 598190178 | CV3902719 | single nucleotide variant | NM_014899.4(RHOBTB3):c.181A>C (p.Ser61Arg) | not specified [RCV005266814] | uncertain significance | 5 | 95732037 | 95732037 | Human | | name |
| 598190185 | CV3902720 | single nucleotide variant | NM_014899.4(RHOBTB3):c.109G>A (p.Gly37Arg) | not specified [RCV005266815] | uncertain significance | 5 | 95731965 | 95731965 | Human | | name |
| 15101926 | CV751079 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1872G>A (p.Ala624=) | not provided [RCV000914875] | likely benign | 8 | 23015649 | 23015649 | Human | | name |
| 15193414 | CV766732 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1323C>T (p.Asn441=) | not provided [RCV000933356] | likely benign | 8 | 23007568 | 23007568 | Human | | name |
| 15137185 | CV766733 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1920C>T (p.Asn640=) | not provided [RCV000943197] | benign | 8 | 23015697 | 23015697 | Human | | name |
| 8631749 | CV86955 | single nucleotide variant | NM_014899.3(RHOBTB3):c.1386C>T (p.Pro462=) | Malignant melanoma [RCV000067046] | not provided | 5 | 95780355 | 95780355 | Human | | name |
| 126734495 | CV1000622 | single nucleotide variant | NM_015178.3(RHOBTB2):c.769G>A (p.Ala257Thr) | Inborn genetic diseases [RCV004656509]|not provided [RCV001311322] | benign|likely benign|conflicting interpretations of pathogenicity | 8 | 23007014 | 23007014 | Human | 1 | name |
| 126750181 | CV1007946 | duplication | NM_015178.3(RHOBTB2):c.76_83dup (p.Arg29fs) | not provided [RCV001315868] | likely benign|uncertain significance | 8 | 23004509 | 23004510 | Human | | name |
| 127317832 | CV1155946 | single nucleotide variant | NM_015178.3(RHOBTB2):c.730G>A (p.Val244Met) | not provided [RCV001521333] | benign | 8 | 23006975 | 23006975 | Human | | name |
| 150529408 | CV1288968 | single nucleotide variant | NM_015178.3(RHOBTB2):c.643C>T (p.Gln215Ter) | not provided [RCV001727437] | uncertain significance | 8 | 23006888 | 23006888 | Human | | name |
| 150551252 | CV1292598 | single nucleotide variant | NM_015178.3(RHOBTB2):c.634C>T (p.Arg212Cys) | not provided [RCV001754205] | uncertain significance | 8 | 23006879 | 23006879 | Human | | name |
| 150552376 | CV1301341 | single nucleotide variant | NM_015178.3(RHOBTB2):c.919G>T (p.Gly307Cys) | not provided [RCV001767751] | uncertain significance | 8 | 23007164 | 23007164 | Human | | name |
| 151663506 | CV1333998 | deletion | NM_015178.3(RHOBTB2):c.1488del (p.Gly497fs) | Developmental and epileptic encephalopathy, 64 [RCV001839172] | uncertain significance | 8 | 23007730 | 23007730 | Human | 1 | name |
| 151893091 | CV1337761 | single nucleotide variant | NM_015178.3(RHOBTB2):c.919G>A (p.Gly307Ser) | not provided [RCV001944752] | uncertain significance | 8 | 23007164 | 23007164 | Human | | name |
| 151777213 | CV1342690 | single nucleotide variant | NM_015178.3(RHOBTB2):c.332A>G (p.Asn111Ser) | Developmental and epileptic encephalopathy, 64 [RCV003138014]|Inborn genetic diseases [RCV003289358]|not provided [RCV001988800] | benign|uncertain significance | 8 | 23005995 | 23005995 | Human | 2 | name |
| 151834331 | CV1345144 | single nucleotide variant | NM_015178.3(RHOBTB2):c.670G>A (p.Val224Met) | not provided [RCV001880617] | benign|uncertain significance | 8 | 23006915 | 23006915 | Human | | name |
| 151845272 | CV1345991 | single nucleotide variant | NM_015178.3(RHOBTB2):c.665G>T (p.Arg222Leu) | not provided [RCV001936624] | uncertain significance | 8 | 23006910 | 23006910 | Human | | name |
| 151667507 | CV1353938 | single nucleotide variant | NM_015178.3(RHOBTB2):c.847A>G (p.Ile283Val) | not provided [RCV001963785] | uncertain significance | 8 | 23007092 | 23007092 | Human | | name |
| 151851885 | CV1358476 | single nucleotide variant | NM_015178.3(RHOBTB2):c.746C>T (p.Pro249Leu) | not provided [RCV001979055] | benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 23006991 | 23006991 | Human | | name |
| 151804444 | CV1371811 | single nucleotide variant | NM_015178.3(RHOBTB2):c.829C>T (p.Arg277Cys) | not provided [RCV001953228] | uncertain significance | 8 | 23007074 | 23007074 | Human | | name |
| 151825306 | CV1373420 | single nucleotide variant | NM_015178.3(RHOBTB2):c.521G>C (p.Gly174Ala) | not provided [RCV001934533] | uncertain significance | 8 | 23006766 | 23006766 | Human | | name |
| 151737155 | CV1391632 | deletion | NM_015178.3(RHOBTB2):c.1327del (p.Arg443fs) | not provided [RCV002041842] | uncertain significance | 8 | 23007572 | 23007572 | Human | | name |
| 151711776 | CV1395209 | single nucleotide variant | NM_015178.3(RHOBTB2):c.955C>T (p.His319Tyr) | not provided [RCV001964447] | uncertain significance | 8 | 23007200 | 23007200 | Human | | name |
| 151718745 | CV1397383 | single nucleotide variant | NM_015178.3(RHOBTB2):c.707C>A (p.Pro236His) | not provided [RCV001982721] | likely benign|uncertain significance | 8 | 23006952 | 23006952 | Human | | name |
| 151777482 | CV1411738 | single nucleotide variant | NM_015178.3(RHOBTB2):c.727A>G (p.Ile243Val) | not provided [RCV001930115] | uncertain significance | 8 | 23006972 | 23006972 | Human | | name |
| 151865009 | CV1416639 | single nucleotide variant | NM_015178.3(RHOBTB2):c.617C>G (p.Ala206Gly) | not provided [RCV001997622] | likely benign|uncertain significance | 8 | 23006862 | 23006862 | Human | | name |
| 151753807 | CV1424796 | single nucleotide variant | NM_015178.3(RHOBTB2):c.979C>T (p.His327Tyr) | Inborn genetic diseases [RCV002550418]|not provided [RCV001894603] | likely benign|uncertain significance | 8 | 23007224 | 23007224 | Human | 1 | name |
| 151753052 | CV1426951 | single nucleotide variant | NM_015178.3(RHOBTB2):c.583G>A (p.Gly195Ser) | Inborn genetic diseases [RCV004656834]|not provided [RCV002007062] | likely benign|uncertain significance | 8 | 23006828 | 23006828 | Human | 1 | name |
| 151886414 | CV1435688 | single nucleotide variant | NM_015178.3(RHOBTB2):c.458A>G (p.Asn153Ser) | not provided [RCV001962754] | uncertain significance | 8 | 23006121 | 23006121 | Human | | name |
| 151795921 | CV1437717 | single nucleotide variant | NM_015178.3(RHOBTB2):c.571G>A (p.Val191Met) | not provided [RCV001876936] | benign|uncertain significance | 8 | 23006816 | 23006816 | Human | | name |
| 151793818 | CV1447308 | single nucleotide variant | NM_015178.3(RHOBTB2):c.308T>G (p.Val103Gly) | not provided [RCV001876756] | uncertain significance | 8 | 23005971 | 23005971 | Human | | name |
| 151862744 | CV1454235 | single nucleotide variant | NM_015178.3(RHOBTB2):c.739G>A (p.Asp247Asn) | Developmental and epileptic encephalopathy, 64 [RCV005397162]|Inborn genetic diseases [RCV004955888]|not provided [RCV001938769] | benign|likely benign|uncertain significance | 8 | 23006984 | 23006984 | Human | 2 | name |
| 151814146 | CV1460491 | single nucleotide variant | NM_015178.3(RHOBTB2):c.547A>C (p.Ile183Leu) | not provided [RCV001878569] | benign|uncertain significance | 8 | 23006792 | 23006792 | Human | | name |
| 151825565 | CV1467123 | single nucleotide variant | NM_015178.3(RHOBTB2):c.823C>T (p.Arg275Trp) | Inborn genetic diseases [RCV002555657]|not provided [RCV001901296] | benign|likely benign|uncertain significance | 8 | 23007068 | 23007068 | Human | 1 | name |
| 151792580 | CV1471265 | single nucleotide variant | NM_015178.3(RHOBTB2):c.550C>T (p.Pro184Ser) | not provided [RCV001931562] | benign|uncertain significance | 8 | 23006795 | 23006795 | Human | | name |
| 151887112 | CV1471895 | deletion | NM_015178.3(RHOBTB2):c.1712del (p.Asp571fs) | not provided [RCV002000818] | uncertain significance | 8 | 23010629 | 23010629 | Human | | name |
| 151747008 | CV1478511 | single nucleotide variant | NM_015178.3(RHOBTB2):c.935G>T (p.Gly312Val) | Developmental and epileptic encephalopathy, 64 [RCV003408087]|not provided [RCV002022943] | uncertain significance | 8 | 23007180 | 23007180 | Human | 1 | name |
| 151715168 | CV1492972 | single nucleotide variant | NM_015178.3(RHOBTB2):c.996C>G (p.His332Gln) | not provided [RCV001890188] | conflicting interpretations of pathogenicity|uncertain significance | 8 | 23007241 | 23007241 | Human | | name |
| 151761519 | CV1496437 | single nucleotide variant | NM_015178.3(RHOBTB2):c.829C>A (p.Arg277Ser) | not provided [RCV001895375] | uncertain significance | 8 | 23007074 | 23007074 | Human | | name |
| 151760314 | CV1497192 | single nucleotide variant | NM_015178.3(RHOBTB2):c.751A>G (p.Ser251Gly) | not provided [RCV001987187] | uncertain significance | 8 | 23006996 | 23006996 | Human | | name |
| 151723082 | CV1511803 | single nucleotide variant | NM_015178.3(RHOBTB2):c.595G>A (p.Val199Ile) | not provided [RCV002003934] | uncertain significance | 8 | 23006840 | 23006840 | Human | | name |
| 152060076 | CV1540571 | single nucleotide variant | NM_015178.3(RHOBTB2):c.716C>T (p.Pro239Leu) | Inborn genetic diseases [RCV003053426]|not provided [RCV002110005] | likely benign | 8 | 23006961 | 23006961 | Human | 1 | name |
| 152168645 | CV1545444 | single nucleotide variant | NM_015178.3(RHOBTB2):c.758A>C (p.Glu253Ala) | Inborn genetic diseases [RCV004656887]|not provided [RCV002142518] | likely benign|uncertain significance | 8 | 23007003 | 23007003 | Human | 1 | name |
| 152048369 | CV1549772 | single nucleotide variant | NM_015178.3(RHOBTB2):c.439G>A (p.Ala147Thr) | not provided [RCV002166543] | likely benign | 8 | 23006102 | 23006102 | Human | | name |
| 152154599 | CV1550655 | single nucleotide variant | NM_015178.3(RHOBTB2):c.508C>T (p.Pro170Ser) | not provided [RCV002140010] | likely benign|conflicting interpretations of pathogenicity | 8 | 23006753 | 23006753 | Human | | name |
| 152154983 | CV1560891 | single nucleotide variant | NM_015178.3(RHOBTB2):c.406A>G (p.Ile136Val) | Inborn genetic diseases [RCV004958416]|not provided [RCV002102809] | likely benign | 8 | 23006069 | 23006069 | Human | 1 | name |
| 152138566 | CV1572296 | single nucleotide variant | NM_015178.3(RHOBTB2):c.677G>A (p.Arg226Gln) | not provided [RCV002219063] | likely benign | 8 | 23006922 | 23006922 | Human | | name |
| 152175899 | CV1580158 | single nucleotide variant | NM_015178.3(RHOBTB2):c.613C>T (p.Arg205Ter) | not provided [RCV002164037] | likely benign | 8 | 23006858 | 23006858 | Human | | name |
| 152126644 | CV1582376 | single nucleotide variant | NM_015178.3(RHOBTB2):c.974A>G (p.Gln325Arg) | Inborn genetic diseases [RCV003089060]|not provided [RCV002198765] | benign|likely benign | 8 | 23007219 | 23007219 | Human | 1 | name |
| 152150079 | CV1603980 | single nucleotide variant | NM_015178.3(RHOBTB2):c.796G>A (p.Ala266Thr) | not provided [RCV002220672] | benign | 8 | 23007041 | 23007041 | Human | | name |
| 152163890 | CV1619117 | single nucleotide variant | NM_015178.3(RHOBTB2):c.788C>T (p.Pro263Leu) | not provided [RCV002123691] | likely benign|conflicting interpretations of pathogenicity | 8 | 23007033 | 23007033 | Human | | name |
| 152059819 | CV1627846 | single nucleotide variant | NM_015178.3(RHOBTB2):c.769G>T (p.Ala257Ser) | not provided [RCV002190390] | likely benign|conflicting interpretations of pathogenicity | 8 | 23007014 | 23007014 | Human | | name |
| 152034226 | CV1639404 | single nucleotide variant | NM_015178.3(RHOBTB2):c.703C>A (p.Pro235Thr) | not provided [RCV002187226] | likely benign | 8 | 23006948 | 23006948 | Human | | name |
| 152172333 | CV1650688 | single nucleotide variant | NM_015178.3(RHOBTB2):c.797C>T (p.Ala266Val) | not provided [RCV002162417] | likely benign | 8 | 23007042 | 23007042 | Human | | name |
| 152103583 | CV1667478 | single nucleotide variant | NM_015178.3(RHOBTB2):c.847A>C (p.Ile283Leu) | not provided [RCV002214466] | uncertain significance | 8 | 23007092 | 23007092 | Human | | name |
| 153346539 | CV1691820 | single nucleotide variant | NM_015178.3(RHOBTB2):c.779T>C (p.Leu260Pro) | Developmental and epileptic encephalopathy, 64 [RCV002273303]|not provided [RCV003096151] | uncertain significance | 8 | 23007024 | 23007024 | Human | 1 | name |
| 153349266 | CV1694137 | single nucleotide variant | NM_015178.3(RHOBTB2):c.978C>A (p.His326Gln) | Developmental and epileptic encephalopathy, 64 [RCV002275658] | uncertain significance | 8 | 23007223 | 23007223 | Human | 1 | name |
| 155641892 | CV1706082 | single nucleotide variant | NM_015178.3(RHOBTB2):c.706C>G (p.Pro236Ala) | not provided [RCV002286944] | uncertain significance | 8 | 23006951 | 23006951 | Human | | name |
| 9686856 | CV171449 | single nucleotide variant | NM_015178.3(RHOBTB2):c.392C>G (p.Pro131Arg) | Prostate cancer [RCV000149074] | uncertain significance | 8 | 23006055 | 23006055 | Human | 2 | name |
| 155749154 | CV1770986 | single nucleotide variant | NM_015178.3(RHOBTB2):c.484C>A (p.Pro162Thr) | not provided [RCV002304351] | uncertain significance | 8 | 23006729 | 23006729 | Human | | name |
| 155728049 | CV1773824 | single nucleotide variant | NM_015178.3(RHOBTB2):c.938G>A (p.Gly313Asp) | not provided [RCV002301580] | uncertain significance | 8 | 23007183 | 23007183 | Human | | name |
| 155673297 | CV1774150 | single nucleotide variant | NM_015178.3(RHOBTB2):c.752G>A (p.Ser251Asn) | not provided [RCV002297643] | benign|uncertain significance | 8 | 23006997 | 23006997 | Human | | name |
| 155747891 | CV1774751 | single nucleotide variant | NM_015178.3(RHOBTB2):c.894G>A (p.Met298Ile) | not provided [RCV002303727] | benign|uncertain significance | 8 | 23007139 | 23007139 | Human | | name |
| 155686727 | CV1777671 | single nucleotide variant | NM_015178.3(RHOBTB2):c.857C>T (p.Ser286Phe) | not provided [RCV002299048] | uncertain significance | 8 | 23007102 | 23007102 | Human | | name |
| 156282298 | CV1896870 | single nucleotide variant | NM_015178.3(RHOBTB2):c.757G>A (p.Glu253Lys) | Inborn genetic diseases [RCV003087161]|not provided [RCV003087160] | benign|uncertain significance | 8 | 23007002 | 23007002 | Human | 1 | name |
| 156435989 | CV1937332 | single nucleotide variant | NM_015178.3(RHOBTB2):c.824G>A (p.Arg275Gln) | Inborn genetic diseases [RCV005273607]|not provided [RCV003105134] | benign|likely benign|uncertain significance | 8 | 23007069 | 23007069 | Human | 1 | name |
| 156442314 | CV1938544 | single nucleotide variant | NM_015178.3(RHOBTB2):c.957C>G (p.His319Gln) | not provided [RCV003112655] | uncertain significance | 8 | 23007202 | 23007202 | Human | | name |
| 156103624 | CV1956729 | single nucleotide variant | NM_015178.3(RHOBTB2):c.826G>A (p.Val276Met) | not provided [RCV002570939] | benign|uncertain significance | 8 | 23007071 | 23007071 | Human | | name |
| 156073868 | CV1968700 | single nucleotide variant | NM_015178.3(RHOBTB2):c.975A>C (p.Gln325His) | not provided [RCV002591354] | benign|uncertain significance | 8 | 23007220 | 23007220 | Human | | name |
| 156178032 | CV1978669 | single nucleotide variant | NM_015178.3(RHOBTB2):c.590A>G (p.Lys197Arg) | Inborn genetic diseases [RCV004656941]|not provided [RCV002594976] | uncertain significance | 8 | 23006835 | 23006835 | Human | 1 | name |
| 156340779 | CV1994160 | single nucleotide variant | NM_015178.3(RHOBTB2):c.987T>G (p.His329Gln) | not provided [RCV002650305] | benign | 8 | 23007232 | 23007232 | Human | | name |
| 156387256 | CV1995883 | deletion | NM_015178.3(RHOBTB2):c.2101del (p.Trp701fs) | not provided [RCV002654077] | likely benign|uncertain significance | 8 | 23017385 | 23017385 | Human | | name |
| 156121532 | CV2039625 | single nucleotide variant | NM_015178.3(RHOBTB2):c.826G>C (p.Val276Leu) | not provided [RCV002800245] | uncertain significance | 8 | 23007071 | 23007071 | Human | | name |
| 156065284 | CV2054330 | single nucleotide variant | NM_015178.3(RHOBTB2):c.406A>T (p.Ile136Phe) | not provided [RCV002797233] | uncertain significance | 8 | 23006069 | 23006069 | Human | | name |
| 156045944 | CV2059839 | single nucleotide variant | NM_015178.3(RHOBTB2):c.501A>T (p.Glu167Asp) | not provided [RCV002796606] | uncertain significance | 8 | 23006746 | 23006746 | Human | | name |
| 156025076 | CV2078009 | duplication | NM_015178.3(RHOBTB2):c.2094dup (p.Arg699fs) | not provided [RCV002866796] | uncertain significance | 8 | 23017376 | 23017377 | Human | | name |
| 156015449 | CV2134188 | single nucleotide variant | NM_015178.3(RHOBTB2):c.613C>G (p.Arg205Gly) | not provided [RCV003017965] | uncertain significance | 8 | 23006858 | 23006858 | Human | | name |
| 155910846 | CV2153154 | single nucleotide variant | NM_015178.3(RHOBTB2):c.745C>T (p.Pro249Ser) | not provided [RCV003012239] | uncertain significance | 8 | 23006990 | 23006990 | Human | | name |
| 156064019 | CV2158351 | single nucleotide variant | NM_015178.3(RHOBTB2):c.605A>G (p.Asn202Ser) | not provided [RCV003019829] | uncertain significance | 8 | 23006850 | 23006850 | Human | | name |
| 156078807 | CV2171035 | single nucleotide variant | NM_015178.3(RHOBTB2):c.469C>T (p.Arg157Ter) | Inborn genetic diseases [RCV003020280]|not provided [RCV003020279] | uncertain significance | 8 | 23006132 | 23006132 | Human | 1 | name |
| 155996352 | CV2171612 | single nucleotide variant | NM_015178.3(RHOBTB2):c.976C>T (p.His326Tyr) | Inborn genetic diseases [RCV003274156]|not provided [RCV003034562] | uncertain significance | 8 | 23007221 | 23007221 | Human | 1 | name |
| 156035865 | CV2178522 | single nucleotide variant | NM_015178.3(RHOBTB2):c.960G>T (p.Gln320His) | not provided [RCV003036374] | uncertain significance | 8 | 23007205 | 23007205 | Human | | name |
| 156296756 | CV2184156 | single nucleotide variant | NM_015178.3(RHOBTB2):c.713C>T (p.Pro238Leu) | Developmental and epileptic encephalopathy, 64 [RCV004725476]|not provided [RCV003027906] | likely benign|uncertain significance | 8 | 23006958 | 23006958 | Human | 1 | name |
| 156108927 | CV2211085 | single nucleotide variant | NM_014836.5(RHOBTB1):c.545G>T (p.Gly182Val) | not specified [RCV004088264] | uncertain significance | 10 | 60889123 | 60889123 | Human | | name |
| 156199034 | CV2255956 | duplication | NM_015178.3(RHOBTB2):c.1684dup (p.Met562fs) | Inborn genetic diseases [RCV002803336] | uncertain significance | 8 | 23010600 | 23010601 | Human | 1 | name |
| 156285316 | CV2360777 | single nucleotide variant | NM_014836.5(RHOBTB1):c.934G>A (p.Glu312Lys) | not specified [RCV004213554] | uncertain significance | 10 | 60888734 | 60888734 | Human | | name |
| 155928219 | CV2361882 | single nucleotide variant | NM_014899.4(RHOBTB3):c.460A>C (p.Ser154Arg) | not specified [RCV004207657] | uncertain significance | 5 | 95748377 | 95748377 | Human | | name |
| 243050361 | CV2415469 | single nucleotide variant | NM_015178.3(RHOBTB2):c.651G>T (p.Trp217Cys) | Developmental and epileptic encephalopathy, 64 [RCV003148034] | uncertain significance | 8 | 23006896 | 23006896 | Human | 1 | name |
| 329399491 | CV2436519 | single nucleotide variant | NM_015178.3(RHOBTB2):c.690G>C (p.Gln230His) | Inborn genetic diseases [RCV003196584] | uncertain significance | 8 | 23006935 | 23006935 | Human | 1 | name |
| 329399256 | CV2470012 | single nucleotide variant | NM_015178.3(RHOBTB2):c.895G>C (p.Asp299His) | Inborn genetic diseases [RCV003220840] | uncertain significance | 8 | 23007140 | 23007140 | Human | 1 | name |
| 329392215 | CV2470480 | single nucleotide variant | NM_014899.4(RHOBTB3):c.879T>G (p.Ile293Met) | not specified [RCV004273501] | uncertain significance | 5 | 95755592 | 95755592 | Human | | name |
| 401854993 | CV2752708 | single nucleotide variant | NM_015178.3(RHOBTB2):c.494C>A (p.Pro165His) | Developmental and epileptic encephalopathy, 64 [RCV003337762] | uncertain significance | 8 | 23006739 | 23006739 | Human | 1 | name |
| 401866628 | CV2776288 | single nucleotide variant | NM_015178.3(RHOBTB2):c.506T>G (p.Leu169Arg) | Inborn genetic diseases [RCV003360052] | uncertain significance | 8 | 23006751 | 23006751 | Human | 1 | name |
| 401940468 | CV2839311 | single nucleotide variant | NM_015178.3(RHOBTB2):c.945C>A (p.His315Gln) | Developmental and epileptic encephalopathy, 64 [RCV003448869]|not provided [RCV003778502] | uncertain significance | 8 | 23007190 | 23007190 | Human | 1 | name |
| 405210679 | CV2867849 | single nucleotide variant | NM_015178.3(RHOBTB2):c.902G>A (p.Ser301Asn) | not provided [RCV003552554] | benign|uncertain significance | 8 | 23007147 | 23007147 | Human | | name |
| 405200459 | CV2877177 | single nucleotide variant | NM_015178.3(RHOBTB2):c.986A>T (p.His329Leu) | not provided [RCV003551334] | likely benign|uncertain significance | 8 | 23007231 | 23007231 | Human | | name |
| 405218355 | CV2907531 | single nucleotide variant | NM_015178.3(RHOBTB2):c.470G>A (p.Arg157Gln) | not provided [RCV003568074] | uncertain significance | 8 | 23006133 | 23006133 | Human | | name |
| 405206739 | CV2913616 | single nucleotide variant | NM_015178.3(RHOBTB2):c.637C>T (p.His213Tyr) | not provided [RCV003566602] | likely benign|uncertain significance | 8 | 23006882 | 23006882 | Human | | name |
| 405038235 | CV2933117 | single nucleotide variant | NM_015178.3(RHOBTB2):c.592G>A (p.Asp198Asn) | Inborn genetic diseases [RCV004371453]|not provided [RCV003578903] | uncertain significance | 8 | 23006837 | 23006837 | Human | 1 | name |
| 405123149 | CV2942389 | single nucleotide variant | NM_015178.3(RHOBTB2):c.505C>G (p.Leu169Val) | not provided [RCV003671616] | uncertain significance | 8 | 23006750 | 23006750 | Human | | name |
| 405084325 | CV2946467 | single nucleotide variant | NM_015178.3(RHOBTB2):c.524G>A (p.Arg175Gln) | not provided [RCV003664843] | uncertain significance | 8 | 23006769 | 23006769 | Human | | name |
| 405076801 | CV2948672 | single nucleotide variant | NM_015178.3(RHOBTB2):c.326T>C (p.Ile109Thr) | not provided [RCV003664310] | benign | 8 | 23005989 | 23005989 | Human | | name |
| 405129958 | CV2953607 | single nucleotide variant | NM_015178.3(RHOBTB2):c.433C>T (p.Arg145Cys) | not provided [RCV003672320] | uncertain significance | 8 | 23006096 | 23006096 | Human | | name |
| 405130092 | CV2953623 | single nucleotide variant | NM_015178.3(RHOBTB2):c.575C>T (p.Ala192Val) | not provided [RCV003672332] | uncertain significance | 8 | 23006820 | 23006820 | Human | | name |
| 405131411 | CV2959075 | deletion | NM_015178.3(RHOBTB2):c.1426del (p.Gln476fs) | not provided [RCV003668411] | uncertain significance | 8 | 23007670 | 23007670 | Human | | name |
| 405158224 | CV2960918 | single nucleotide variant | NM_015178.3(RHOBTB2):c.722C>T (p.Pro241Leu) | not provided [RCV003670443] | likely benign | 8 | 23006967 | 23006967 | Human | | name |
| 405243713 | CV2971696 | single nucleotide variant | NM_015178.3(RHOBTB2):c.407T>C (p.Ile136Thr) | not provided [RCV003684657] | benign | 8 | 23006070 | 23006070 | Human | | name |
| 405244940 | CV2972712 | single nucleotide variant | NM_015178.3(RHOBTB2):c.689A>C (p.Gln230Pro) | not provided [RCV003684999] | uncertain significance | 8 | 23006934 | 23006934 | Human | | name |
| 405239711 | CV2993471 | single nucleotide variant | NM_015178.3(RHOBTB2):c.472C>A (p.Pro158Thr) | not provided [RCV003718934] | uncertain significance | 8 | 23006135 | 23006135 | Human | | name |
| 402517146 | CV3003250 | single nucleotide variant | NM_015178.3(RHOBTB2):c.707C>T (p.Pro236Leu) | not provided [RCV003716157] | likely benign|uncertain significance | 8 | 23006952 | 23006952 | Human | | name |
| 405249182 | CV3003805 | single nucleotide variant | NM_015178.3(RHOBTB2):c.610A>G (p.Ile204Val) | not provided [RCV003721196] | benign | 8 | 23006855 | 23006855 | Human | | name |
| 402497037 | CV3005785 | single nucleotide variant | NM_015178.3(RHOBTB2):c.437A>G (p.Tyr146Cys) | not provided [RCV003688009] | uncertain significance | 8 | 23006100 | 23006100 | Human | | name |
| 402498565 | CV3015937 | single nucleotide variant | NM_015178.3(RHOBTB2):c.956A>G (p.His319Arg) | not provided [RCV003688256] | uncertain significance | 8 | 23007201 | 23007201 | Human | | name |
| 405071019 | CV3034383 | single nucleotide variant | NM_015178.3(RHOBTB2):c.691G>A (p.Ala231Thr) | not provided [RCV003698321] | uncertain significance | 8 | 23006936 | 23006936 | Human | | name |
| 405131613 | CV3051162 | single nucleotide variant | NM_015178.3(RHOBTB2):c.757G>C (p.Glu253Gln) | not provided [RCV003724877] | uncertain significance | 8 | 23007002 | 23007002 | Human | | name |
| 405237554 | CV3081022 | single nucleotide variant | NM_015178.3(RHOBTB2):c.730G>T (p.Val244Leu) | not provided [RCV003736185] | benign | 8 | 23006975 | 23006975 | Human | | name |
| 405150130 | CV3142078 | single nucleotide variant | NM_015178.3(RHOBTB2):c.665G>A (p.Arg222His) | not provided [RCV003840000] | benign | 8 | 23006910 | 23006910 | Human | | name |
| 405226995 | CV3142819 | single nucleotide variant | NM_015178.3(RHOBTB2):c.686T>A (p.Leu229Gln) | not provided [RCV003848161] | uncertain significance | 8 | 23006931 | 23006931 | Human | | name |
| 405216289 | CV3143373 | single nucleotide variant | NM_015178.3(RHOBTB2):c.912G>T (p.Glu304Asp) | not provided [RCV003846537] | benign | 8 | 23007157 | 23007157 | Human | | name |
| 405171696 | CV3150081 | single nucleotide variant | NM_015178.3(RHOBTB2):c.617C>T (p.Ala206Val) | not provided [RCV003841552] | uncertain significance | 8 | 23006862 | 23006862 | Human | | name |
| 405149119 | CV3152427 | single nucleotide variant | NM_015178.3(RHOBTB2):c.897C>A (p.Asp299Glu) | not provided [RCV003856206] | benign | 8 | 23007142 | 23007142 | Human | | name |
| 405238271 | CV3167054 | single nucleotide variant | NM_015178.3(RHOBTB2):c.673C>T (p.Gln225Ter) | not provided [RCV003854309] | uncertain significance | 8 | 23006918 | 23006918 | Human | | name |
| 404990772 | CV3176248 | single nucleotide variant | NM_015178.3(RHOBTB2):c.739G>C (p.Asp247His) | not provided [RCV003881573] | uncertain significance | 8 | 23006984 | 23006984 | Human | | name |
| 405734168 | CV3309410 | single nucleotide variant | NM_014836.5(RHOBTB1):c.403G>A (p.Val135Ile) | not specified [RCV004451416] | uncertain significance | 10 | 60892889 | 60892889 | Human | | name |
| 405734178 | CV3309411 | single nucleotide variant | NM_014836.5(RHOBTB1):c.524G>A (p.Arg175Gln) | not specified [RCV004451417] | uncertain significance | 10 | 60889144 | 60889144 | Human | | name |
| 405734197 | CV3309413 | single nucleotide variant | NM_014836.5(RHOBTB1):c.716C>T (p.Pro239Leu) | not specified [RCV004451419] | uncertain significance | 10 | 60888952 | 60888952 | Human | | name |
| 405734322 | CV3309428 | single nucleotide variant | NM_014899.4(RHOBTB3):c.356T>C (p.Ile119Thr) | not specified [RCV004451434] | uncertain significance | 5 | 95737016 | 95737016 | Human | | name |
| 405734329 | CV3309429 | single nucleotide variant | NM_014899.4(RHOBTB3):c.458G>A (p.Gly153Glu) | not specified [RCV004451435] | uncertain significance | 5 | 95748375 | 95748375 | Human | | name |
| 405734339 | CV3309430 | single nucleotide variant | NM_014899.4(RHOBTB3):c.877A>G (p.Ile293Val) | not specified [RCV004451436] | uncertain significance | 5 | 95755590 | 95755590 | Human | | name |
| 405734348 | CV3309431 | single nucleotide variant | NM_014899.4(RHOBTB3):c.932A>C (p.Asp311Ala) | not specified [RCV004451437] | uncertain significance | 5 | 95755645 | 95755645 | Human | | name |
| 407427956 | CV3412254 | single nucleotide variant | NM_015178.3(RHOBTB2):c.607G>T (p.Ala203Ser) | not provided [RCV004592425] | uncertain significance | 8 | 23006852 | 23006852 | Human | | name |
| 407474609 | CV3472924 | single nucleotide variant | NM_014836.5(RHOBTB1):c.712G>T (p.Ala238Ser) | not specified [RCV004663043] | uncertain significance | 10 | 60888956 | 60888956 | Human | | name |
| 407474875 | CV3472934 | single nucleotide variant | NM_014899.4(RHOBTB3):c.632A>G (p.Lys211Arg) | not specified [RCV004663052] | uncertain significance | 5 | 95752300 | 95752300 | Human | | name |
| 407474871 | CV3472935 | single nucleotide variant | NM_014899.4(RHOBTB3):c.364G>A (p.Ala122Thr) | not specified [RCV004663053] | uncertain significance | 5 | 95737024 | 95737024 | Human | | name |
| 407508169 | CV3472936 | single nucleotide variant | NM_014899.4(RHOBTB3):c.596T>C (p.Leu199Ser) | not specified [RCV004671955] | uncertain significance | 5 | 95752264 | 95752264 | Human | | name |
| 408394675 | CV3521481 | single nucleotide variant | NM_015178.3(RHOBTB2):c.610A>T (p.Ile204Phe) | Developmental and epileptic encephalopathy, 64 [RCV004764278] | uncertain significance | 8 | 23006855 | 23006855 | Human | 1 | name |
| 408388010 | CV3527313 | single nucleotide variant | NM_015178.3(RHOBTB2):c.641T>C (p.Leu214Pro) | not provided [RCV004773615] | uncertain significance | 8 | 23006886 | 23006886 | Human | | name |
| 596947564 | CV3549123 | duplication | NM_015178.3(RHOBTB2):c.1113dup (p.Arg372fs) | not provided [RCV004811447] | pathogenic | 8 | 23007357 | 23007358 | Human | | name |
| 596946109 | CV3550394 | single nucleotide variant | NM_015178.3(RHOBTB2):c.892A>G (p.Met298Val) | Developmental and epileptic encephalopathy, 64 [RCV004818935] | uncertain significance | 8 | 23007137 | 23007137 | Human | 1 | name |
| 597776192 | CV3586553 | single nucleotide variant | NM_014836.5(RHOBTB1):c.967C>T (p.Arg323Trp) | not specified [RCV004852450] | uncertain significance | 10 | 60888701 | 60888701 | Human | | name |
| 597776202 | CV3586558 | single nucleotide variant | NM_014836.5(RHOBTB1):c.968G>A (p.Arg323Gln) | not specified [RCV004852453] | likely benign | 10 | 60888700 | 60888700 | Human | | name |
| 597788384 | CV3586560 | single nucleotide variant | NM_014836.5(RHOBTB1):c.674A>G (p.Gln225Arg) | not specified [RCV004855486] | uncertain significance | 10 | 60888994 | 60888994 | Human | | name |
| 597718279 | CV3586565 | single nucleotide variant | NM_015178.3(RHOBTB2):c.614G>C (p.Arg205Pro) | Inborn genetic diseases [RCV004960112] | uncertain significance | 8 | 23006859 | 23006859 | Human | 1 | name |
| 597718292 | CV3586567 | single nucleotide variant | NM_015178.3(RHOBTB2):c.920G>A (p.Gly307Asp) | Inborn genetic diseases [RCV004960114] | uncertain significance | 8 | 23007165 | 23007165 | Human | 1 | name |
| 597776218 | CV3586568 | single nucleotide variant | NM_014899.4(RHOBTB3):c.866G>A (p.Ser289Asn) | not specified [RCV004852457] | uncertain significance | 5 | 95755579 | 95755579 | Human | | name |
| 597850818 | CV3746946 | single nucleotide variant | NM_015178.3(RHOBTB2):c.362T>C (p.Met121Thr) | not provided [RCV005060574] | uncertain significance | 8 | 23006025 | 23006025 | Human | | name |
| 597857802 | CV3748199 | single nucleotide variant | NM_015178.3(RHOBTB2):c.878A>G (p.Tyr293Cys) | not provided [RCV005067021] | uncertain significance | 8 | 23007123 | 23007123 | Human | | name |
| 597935628 | CV3759451 | single nucleotide variant | NM_015178.3(RHOBTB2):c.862T>A (p.Ser288Thr) | not provided [RCV005076571] | uncertain significance | 8 | 23007107 | 23007107 | Human | | name |
| 597872641 | CV3768767 | single nucleotide variant | NM_015178.3(RHOBTB2):c.841C>T (p.His281Tyr) | not provided [RCV005122937] | uncertain significance | 8 | 23007086 | 23007086 | Human | | name |
| 597945135 | CV3779560 | single nucleotide variant | NM_015178.3(RHOBTB2):c.796G>T (p.Ala266Ser) | not provided [RCV005134524] | benign | 8 | 23007041 | 23007041 | Human | | name |
| 597971992 | CV3798952 | single nucleotide variant | NM_015178.3(RHOBTB2):c.897C>G (p.Asp299Glu) | not provided [RCV005142364] | benign | 8 | 23007142 | 23007142 | Human | | name |
| 597956453 | CV3817974 | single nucleotide variant | NM_015178.3(RHOBTB2):c.946C>A (p.Pro316Thr) | not provided [RCV005162425] | uncertain significance | 8 | 23007191 | 23007191 | Human | | name |
| 597949862 | CV3818853 | single nucleotide variant | NM_015178.3(RHOBTB2):c.712C>A (p.Pro238Thr) | not provided [RCV005160923] | uncertain significance | 8 | 23006957 | 23006957 | Human | | name |
| 597963317 | CV3819587 | single nucleotide variant | NM_015178.3(RHOBTB2):c.664C>T (p.Arg222Cys) | not provided [RCV005164303] | uncertain significance | 8 | 23006909 | 23006909 | Human | | name |
| 597972932 | CV3820002 | single nucleotide variant | NM_015178.3(RHOBTB2):c.622C>T (p.Leu208Phe) | not provided [RCV005167716] | uncertain significance | 8 | 23006867 | 23006867 | Human | | name |
| 597848991 | CV3824376 | single nucleotide variant | NM_015178.3(RHOBTB2):c.907G>A (p.Gly303Arg) | not provided [RCV005173415] | uncertain significance | 8 | 23007152 | 23007152 | Human | | name |
| 597872486 | CV3836122 | single nucleotide variant | NM_015178.3(RHOBTB2):c.838G>T (p.Ala280Ser) | not provided [RCV005176919] | uncertain significance | 8 | 23007083 | 23007083 | Human | | name |
| 597874577 | CV3859637 | single nucleotide variant | NM_015178.3(RHOBTB2):c.775C>A (p.Leu259Ile) | not provided [RCV005198041] | likely benign | 8 | 23007020 | 23007020 | Human | | name |
| 597832025 | CV3864039 | deletion | NM_015178.3(RHOBTB2):c.1067del (p.Gly356fs) | Developmental and epileptic encephalopathy, 64 [RCV005208455] | uncertain significance | 8 | 23007308 | 23007308 | Human | 1 | name |
| 598190087 | CV3902705 | single nucleotide variant | NM_014836.5(RHOBTB1):c.731A>G (p.Lys244Arg) | not specified [RCV005266800] | uncertain significance | 10 | 60888937 | 60888937 | Human | | name |
| 598190135 | CV3902712 | single nucleotide variant | NM_014836.5(RHOBTB1):c.487A>G (p.Ile163Val) | not specified [RCV005266807] | uncertain significance | 10 | 60889181 | 60889181 | Human | | name |
| 598190165 | CV3902717 | single nucleotide variant | NM_014899.4(RHOBTB3):c.956A>G (p.His319Arg) | not specified [RCV005266812] | uncertain significance | 5 | 95755669 | 95755669 | Human | | name |
| 598190193 | CV3902721 | single nucleotide variant | NM_014899.4(RHOBTB3):c.475A>C (p.Thr159Pro) | not specified [RCV005266816] | uncertain significance | 5 | 95748392 | 95748392 | Human | | name |
| 598176697 | CV4008173 | single nucleotide variant | NM_015178.3(RHOBTB2):c.706C>A (p.Pro236Thr) | Developmental and epileptic encephalopathy, 64 [RCV005393689] | uncertain significance | 8 | 23006951 | 23006951 | Human | 1 | name |
| 21068782 | CV788825 | single nucleotide variant | NM_015178.3(RHOBTB2):c.394C>T (p.Arg132Ter) | Developmental and epileptic encephalopathy, 64 [RCV000984965] | likely pathogenic|uncertain significance | 8 | 23006057 | 23006057 | Human | 1 | name |
| 126734504 | CV1000624 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1102G>A (p.Asp368Asn) | Inborn genetic diseases [RCV002543575]|not provided [RCV001311324] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 23007347 | 23007347 | Human | 1 | name |
| 126736828 | CV1017033 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2102G>C (p.Trp701Ser) | Developmental and epileptic encephalopathy, 64 [RCV001328624] | uncertain significance | 8 | 23017387 | 23017387 | Human | 1 | name |
| 127261754 | CV1087347 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2038C>T (p.Arg680Trp) | Developmental and epileptic encephalopathy, 64 [RCV001420641]|Inborn genetic diseases [RCV004656590]|not provided [RCV001882534] | uncertain significance | 8 | 23017323 | 23017323 | Human | 2 | name |
| 127298587 | CV1155947 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2129C>T (p.Pro710Leu) | Developmental and epileptic encephalopathy, 64 [RCV002506599]|Inborn genetic diseases [RCV002564319]|not provided [RCV001513322] | benign|likely benign | 8 | 23017414 | 23017414 | Human | 2 | name |
| 150417353 | CV1180430 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1411G>A (p.Glu471Lys) | not provided [RCV001550085] | pathogenic | 8 | 23007656 | 23007656 | Human | | name |
| 150529410 | CV1288969 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1127C>T (p.Thr376Ile) | not provided [RCV001727438] | benign|likely benign|conflicting interpretations of pathogenicity | 8 | 23007372 | 23007372 | Human | | name |
| 150548650 | CV1294433 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1320G>C (p.Glu440Asp) | not provided [RCV001751925] | uncertain significance | 8 | 23007565 | 23007565 | Human | | name |
| 151662232 | CV1332958 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1541A>G (p.His514Arg) | Developmental and epileptic encephalopathy, 64 [RCV001837189] | uncertain significance | 8 | 23008032 | 23008032 | Human | 1 | name |
| 151662366 | CV1333063 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1039G>A (p.Val347Met) | Developmental and epileptic encephalopathy, 64 [RCV001837296]|Inborn genetic diseases [RCV002542801]|not provided [RCV003698880] | likely benign|uncertain significance | 8 | 23007284 | 23007284 | Human | 2 | name |
| 151846932 | CV1339106 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2005G>A (p.Val669Met) | Inborn genetic diseases [RCV004956042]|not provided [RCV001995459] | benign|uncertain significance | 8 | 23017290 | 23017290 | Human | 1 | name |
| 151871763 | CV1340764 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1412A>G (p.Glu471Gly) | not provided [RCV001939899] | uncertain significance | 8 | 23007657 | 23007657 | Human | | name |
| 151793190 | CV1341585 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1923C>A (p.Asn641Lys) | Inborn genetic diseases [RCV003365471]|not provided [RCV001866439] | benign|uncertain significance | 8 | 23015700 | 23015700 | Human | 1 | name |
| 151853908 | CV1344220 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2059A>G (p.Lys687Glu) | not provided [RCV001923153] | uncertain significance | 8 | 23017344 | 23017344 | Human | | name |
| 151891025 | CV1344525 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1328G>A (p.Arg443His) | Inborn genetic diseases [RCV003247150]|not provided [RCV001943216] | benign|likely benign|uncertain significance | 8 | 23007573 | 23007573 | Human | 1 | name |
| 151822670 | CV1351295 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2098C>T (p.Arg700Cys) | not provided [RCV001992935] | uncertain significance | 8 | 23017383 | 23017383 | Human | | name |
| 151722460 | CV1352332 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2044C>T (p.Arg682Trp) | Inborn genetic diseases [RCV002545520]|not provided [RCV002040269] | benign|uncertain significance | 8 | 23017329 | 23017329 | Human | 1 | name |
| 151780595 | CV1356034 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1894C>T (p.Leu632Phe) | not provided [RCV002046129] | uncertain significance | 8 | 23015671 | 23015671 | Human | | name |
| 151802850 | CV1364616 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1228C>T (p.Arg410Trp) | not provided [RCV001991110] | uncertain significance | 8 | 23007473 | 23007473 | Human | | name |
| 151878183 | CV1370017 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1936T>A (p.Phe646Ile) | not provided [RCV001961304] | uncertain significance | 8 | 23015713 | 23015713 | Human | | name |
| 151714184 | CV1399456 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1012T>C (p.Phe338Leu) | not provided [RCV001908632] | uncertain significance | 8 | 23007257 | 23007257 | Human | | name |
| 151807060 | CV1400210 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1913A>G (p.Asn638Ser) | not provided [RCV002012085] | likely benign|uncertain significance | 8 | 23015690 | 23015690 | Human | | name |
| 151796329 | CV1404673 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1171C>T (p.Arg391Ter) | not provided [RCV002011157] | likely benign|uncertain significance | 8 | 23007416 | 23007416 | Human | | name |
| 151880234 | CV1405831 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1943G>A (p.Arg648Gln) | not provided [RCV001940911] | uncertain significance | 8 | 23015720 | 23015720 | Human | | name |
| 151880558 | CV1411363 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1615C>T (p.Arg539Trp) | Inborn genetic diseases [RCV005266099]|not provided [RCV002020093] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 23008106 | 23008106 | Human | 1 | name |
| 151883175 | CV1411832 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1877A>G (p.Gln626Arg) | not provided [RCV001962074] | uncertain significance | 8 | 23015654 | 23015654 | Human | | name |
| 151777789 | CV1411844 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2074C>A (p.His692Asn) | Inborn genetic diseases [RCV005271428]|not provided [RCV001930141] | likely benign|uncertain significance | 8 | 23017359 | 23017359 | Human | 1 | name |
| 151775599 | CV1413635 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2045G>A (p.Arg682Gln) | not provided [RCV001971598] | benign|uncertain significance | 8 | 23017330 | 23017330 | Human | | name |
| 151822287 | CV1415686 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1589G>A (p.Gly530Glu) | not provided [RCV001901003] | uncertain significance | 8 | 23008080 | 23008080 | Human | | name |
| 151885916 | CV1418333 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1114C>T (p.Arg372Trp) | not provided [RCV001887453] | uncertain significance | 8 | 23007359 | 23007359 | Human | | name |
| 151730176 | CV1420447 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1619A>C (p.Glu540Ala) | Inborn genetic diseases [RCV005266119]|not provided [RCV002041113] | uncertain significance | 8 | 23008110 | 23008110 | Human | 1 | name |
| 151795514 | CV1421260 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1615C>G (p.Arg539Gly) | not provided [RCV001917220] | uncertain significance | 8 | 23008106 | 23008106 | Human | | name |
| 151793492 | CV1423090 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1123G>A (p.Gly375Arg) | Inborn genetic diseases [RCV004044120]|not provided [RCV001917043] | likely benign|uncertain significance | 8 | 23007368 | 23007368 | Human | 1 | name |
| 151822795 | CV1424943 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2146T>G (p.Ser716Ala) | not provided [RCV001919739] | uncertain significance | 8 | 23017431 | 23017431 | Human | | name |
| 151752957 | CV1426942 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2114A>G (p.Asn705Ser) | not provided [RCV002007053] | uncertain significance | 8 | 23017399 | 23017399 | Human | | name |
| 151715890 | CV1434914 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1378C>A (p.Leu460Met) | not provided [RCV001890325] | uncertain significance | 8 | 23007623 | 23007623 | Human | | name |
| 151775209 | CV1440170 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1415C>G (p.Ala472Gly) | not provided [RCV001874833] | uncertain significance | 8 | 23007660 | 23007660 | Human | | name |
| 151838076 | CV1445311 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1592G>A (p.Gly531Glu) | not provided [RCV001994408] | uncertain significance | 8 | 23008083 | 23008083 | Human | | name |
| 151771588 | CV1451748 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1219T>G (p.Tyr407Asp) | not provided [RCV001988290] | uncertain significance | 8 | 23007464 | 23007464 | Human | | name |
| 151886633 | CV1455138 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1105G>T (p.Gly369Trp) | Inborn genetic diseases [RCV005271600]|not provided [RCV002038015] | likely benign|uncertain significance | 8 | 23007350 | 23007350 | Human | 1 | name |
| 151751249 | CV1464083 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1924G>A (p.Val642Met) | not provided [RCV001948160] | uncertain significance | 8 | 23015701 | 23015701 | Human | | name |
| 151873951 | CV1470308 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1784T>C (p.Val595Ala) | Inborn genetic diseases [RCV004953244]|not provided [RCV001885624] | likely benign|uncertain significance | 8 | 23014702 | 23014702 | Human | 1 | name |
| 151716963 | CV1470772 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2095C>T (p.Arg699Trp) | not provided [RCV001909113] | benign|uncertain significance | 8 | 23017380 | 23017380 | Human | | name |
| 151855072 | CV1473744 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1789G>A (p.Gly597Arg) | Inborn genetic diseases [RCV003164108]|not provided [RCV001904586] | likely benign|uncertain significance | 8 | 23014707 | 23014707 | Human | 1 | name |
| 151747990 | CV1478739 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1168A>T (p.Ser390Cys) | not provided [RCV002023057] | uncertain significance | 8 | 23007413 | 23007413 | Human | | name |
| 151768853 | CV1486407 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1520A>G (p.Asp507Gly) | not provided [RCV001914787] | benign|uncertain significance | 8 | 23008011 | 23008011 | Human | | name |
| 151739937 | CV1492379 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1115G>A (p.Arg372Gln) | Inborn genetic diseases [RCV004656673]|not provided [RCV002042132] | likely benign|uncertain significance | 8 | 23007360 | 23007360 | Human | 1 | name |
| 151735199 | CV1494209 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1537G>A (p.Ala513Thr) | not provided [RCV001984627] | uncertain significance | 8 | 23008028 | 23008028 | Human | | name |
| 151729038 | CV1505313 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1382G>C (p.Arg461Pro) | Developmental and epileptic encephalopathy, 64 [RCV005254020]|not provided [RCV002021100] | likely pathogenic|uncertain significance | 8 | 23007627 | 23007627 | Human | 1 | name |
| 151719849 | CV1505937 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1975G>A (p.Glu659Lys) | not provided [RCV002039911] | likely benign|uncertain significance | 8 | 23017260 | 23017260 | Human | | name |
| 151878435 | CV1506031 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1348C>T (p.His450Tyr) | Inborn genetic diseases [RCV004041173]|not provided [RCV001886147] | likely benign|uncertain significance | 8 | 23007593 | 23007593 | Human | 1 | name |
| 151750559 | CV1508279 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1200G>T (p.Met400Ile) | not provided [RCV001986241] | uncertain significance | 8 | 23007445 | 23007445 | Human | | name |
| 151732729 | CV1509799 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2099G>A (p.Arg700His) | Inborn genetic diseases [RCV002553453]|not provided [RCV001892426] | benign|uncertain significance | 8 | 23017384 | 23017384 | Human | 1 | name |
| 152052987 | CV1523664 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2076C>A (p.His692Gln) | Inborn genetic diseases [RCV004046322]|not provided [RCV002127459] | benign|likely benign | 8 | 23017361 | 23017361 | Human | 1 | name |
| 152038835 | CV1538167 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1229G>A (p.Arg410Gln) | Inborn genetic diseases [RCV004045671]|not provided [RCV002206030] | likely benign|uncertain significance | 8 | 23007474 | 23007474 | Human | 1 | name |
| 152051762 | CV1538810 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1702G>A (p.Asp568Asn) | Inborn genetic diseases [RCV002553700]|not provided [RCV002189498] | benign|likely benign | 8 | 23010619 | 23010619 | Human | 1 | name |
| 152122324 | CV1541491 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1993C>T (p.Arg665Trp) | not provided [RCV002175744] | likely benign | 8 | 23017278 | 23017278 | Human | | name |
| 152138563 | CV1562662 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1006C>T (p.Arg336Ter) | not provided [RCV002100449] | likely benign | 8 | 23007251 | 23007251 | Human | | name |
| 152137717 | CV1563433 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1243G>A (p.Val415Met) | not provided [RCV002200171] | likely benign | 8 | 23007488 | 23007488 | Human | | name |
| 152119573 | CV1576043 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1948A>G (p.Met650Val) | Developmental and epileptic encephalopathy, 64 [RCV005397301]|not provided [RCV002197864] | likely benign|uncertain significance | 8 | 23015725 | 23015725 | Human | 1 | name |
| 152065699 | CV1583503 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1022G>A (p.Arg341Gln) | Inborn genetic diseases [RCV003053447]|not provided [RCV002110758] | likely benign|uncertain significance | 8 | 23007267 | 23007267 | Human | 1 | name |
| 152025961 | CV1586654 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2012A>G (p.Tyr671Cys) | not provided [RCV002184994] | likely benign | 8 | 23017297 | 23017297 | Human | | name |
| 152091515 | CV1595893 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1363C>T (p.Leu455Phe) | not provided [RCV002077774] | likely benign | 8 | 23007608 | 23007608 | Human | | name |
| 152086572 | CV1608386 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1490G>C (p.Gly497Ala) | not provided [RCV002212121] | likely benign | 8 | 23007735 | 23007735 | Human | | name |
| 152165940 | CV1618151 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1160C>G (p.Ser387Cys) | not provided [RCV002204344] | likely benign | 8 | 23007405 | 23007405 | Human | | name |
| 152162219 | CV1635705 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2162C>T (p.Ser721Phe) | not provided [RCV002203631] | likely benign | 8 | 23017447 | 23017447 | Human | | name |
| 152034233 | CV1639405 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2119C>A (p.Pro707Thr) | not provided [RCV002187227] | likely benign | 8 | 23017404 | 23017404 | Human | | name |
| 152126051 | CV1641888 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1304C>T (p.Thr435Met) | not provided [RCV002176193] | conflicting interpretations of pathogenicity | 8 | 23007549 | 23007549 | Human | | name |
| 152159750 | CV1649906 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1866C>G (p.His622Gln) | not provided [RCV002159426] | likely benign | 8 | 23015643 | 23015643 | Human | | name |
| 152172709 | CV1658796 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1802C>A (p.Ala601Glu) | not provided [RCV002162551] | benign | 8 | 23014720 | 23014720 | Human | | name |
| 152091695 | CV1662248 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2081A>G (p.Lys694Arg) | not provided [RCV002132124] | benign | 8 | 23017366 | 23017366 | Human | | name |
| 152025977 | CV1666140 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1709A>G (p.Asp570Gly) | Inborn genetic diseases [RCV004956204]|not provided [RCV002084645] | likely benign|uncertain significance | 8 | 23010626 | 23010626 | Human | 1 | name |
| 152103591 | CV1667479 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2107T>C (p.Phe703Leu) | not provided [RCV002214467] | uncertain significance | 8 | 23017392 | 23017392 | Human | | name |
| 153345757 | CV1691400 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1216A>G (p.Thr406Ala) | Developmental and epileptic encephalopathy, 64 [RCV002272883] | uncertain significance | 8 | 23007461 | 23007461 | Human | 1 | name |
| 155268011 | CV1701518 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1406A>G (p.Asn469Ser) | Developmental and epileptic encephalopathy, 64 [RCV002283744] | uncertain significance | 8 | 23007651 | 23007651 | Human | 1 | name |
| 155670486 | CV1771001 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1689C>A (p.Phe563Leu) | not provided [RCV002297321] | uncertain significance | 8 | 23010606 | 23010606 | Human | | name |
| 155749589 | CV1771852 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1278C>G (p.Phe426Leu) | not provided [RCV002304809] | uncertain significance | 8 | 23007523 | 23007523 | Human | | name |
| 155677421 | CV1771870 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1483G>A (p.Ala495Thr) | not provided [RCV002297883] | uncertain significance | 8 | 23007728 | 23007728 | Human | | name |
| 156254319 | CV1878913 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1868G>C (p.Cys623Ser) | not provided [RCV003060138] | uncertain significance | 8 | 23015645 | 23015645 | Human | | name |
| 156286906 | CV1907465 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1199T>C (p.Met400Thr) | Inborn genetic diseases [RCV005266539]|not provided [RCV003087320] | uncertain significance | 8 | 23007444 | 23007444 | Human | 1 | name |
| 156082547 | CV1909033 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2084G>A (p.Arg695Gln) | not provided [RCV002591628] | uncertain significance | 8 | 23017369 | 23017369 | Human | | name |
| 156185208 | CV1919093 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1198A>G (p.Met400Val) | not provided [RCV002595193] | uncertain significance | 8 | 23007443 | 23007443 | Human | | name |
| 156368280 | CV1925925 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1324G>A (p.Glu442Lys) | not provided [RCV002633178] | uncertain significance | 8 | 23007569 | 23007569 | Human | | name |
| 156058468 | CV1928908 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1930C>T (p.Arg644Cys) | not provided [RCV002620861] | benign | 8 | 23015707 | 23015707 | Human | | name |
| 155961141 | CV1936535 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1022G>T (p.Arg341Leu) | not provided [RCV002512352] | uncertain significance | 8 | 23007267 | 23007267 | Human | | name |
| 156446575 | CV1947919 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1885G>A (p.Asp629Asn) | not provided [RCV003118084] | benign | 8 | 23015662 | 23015662 | Human | | name |
| 156206785 | CV1959346 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1738C>T (p.Arg580Cys) | not provided [RCV002574990] | likely benign|uncertain significance | 8 | 23010655 | 23010655 | Human | | name |
| 156385651 | CV1961216 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2096G>A (p.Arg699Gln) | not provided [RCV002583463] | uncertain significance | 8 | 23017381 | 23017381 | Human | | name |
| 156190538 | CV1961696 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1051G>A (p.Val351Met) | not provided [RCV002574395] | uncertain significance | 8 | 23007296 | 23007296 | Human | | name |
| 156125248 | CV1962703 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2093A>G (p.Lys698Arg) | not provided [RCV002572019] | uncertain significance | 8 | 23017378 | 23017378 | Human | | name |
| 156315939 | CV1974779 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1627T>G (p.Phe543Val) | Inborn genetic diseases [RCV004958625]|not provided [RCV002630062] | uncertain significance | 8 | 23010544 | 23010544 | Human | 1 | name |
| 155910369 | CV1980106 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1851A>T (p.Glu617Asp) | Inborn genetic diseases [RCV002613943]|not provided [RCV002613944] | likely benign|uncertain significance | 8 | 23014769 | 23014769 | Human | 1 | name |
| 156414677 | CV1982929 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1241T>C (p.Val414Ala) | not provided [RCV002609313] | uncertain significance | 8 | 23007486 | 23007486 | Human | | name |
| 156107280 | CV1996746 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1105G>A (p.Gly369Arg) | not provided [RCV002662345] | benign|uncertain significance | 8 | 23007350 | 23007350 | Human | | name |
| 156198604 | CV2005940 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1280G>A (p.Arg427Gln) | Inborn genetic diseases [RCV004066799]|not provided [RCV002643553] | likely benign|uncertain significance | 8 | 23007525 | 23007525 | Human | 1 | name |
| 156312587 | CV2007044 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1002T>G (p.His334Gln) | not provided [RCV002671718] | uncertain significance | 8 | 23007247 | 23007247 | Human | | name |
| 156207902 | CV2018735 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1942C>T (p.Arg648Ter) | not provided [RCV002700517] | uncertain significance | 8 | 23015719 | 23015719 | Human | | name |
| 156165094 | CV2019671 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1802C>T (p.Ala601Val) | Inborn genetic diseases [RCV002710314]|not provided [RCV002710313] | benign|uncertain significance | 8 | 23014720 | 23014720 | Human | 1 | name |
| 156009947 | CV2020273 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1268C>T (p.Pro423Leu) | not provided [RCV002734845] | benign | 8 | 23007513 | 23007513 | Human | | name |
| 156017538 | CV2020392 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1769C>T (p.Thr590Ile) | not provided [RCV002735215] | uncertain significance | 8 | 23010686 | 23010686 | Human | | name |
| 155961566 | CV2023697 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1952A>G (p.Lys651Arg) | not provided [RCV002731199] | uncertain significance | 8 | 23015729 | 23015729 | Human | | name |
| 156231393 | CV2024352 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1192G>T (p.Glu398Ter) | not provided [RCV002745318] | uncertain significance | 8 | 23007437 | 23007437 | Human | | name |
| 156088035 | CV2034223 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2138C>T (p.Ser713Leu) | Inborn genetic diseases [RCV004958739]|not provided [RCV002760844] | likely benign | 8 | 23017423 | 23017423 | Human | 1 | name |
| 156278915 | CV2046560 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1660G>A (p.Val554Met) | Inborn genetic diseases [RCV004064667]|not provided [RCV002770311] | benign|likely benign|uncertain significance | 8 | 23010577 | 23010577 | Human | 1 | name |
| 156371041 | CV2048819 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1087C>T (p.Arg363Cys) | not provided [RCV002814283] | uncertain significance | 8 | 23007332 | 23007332 | Human | | name |
| 156039851 | CV2049669 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1421T>A (p.Met474Lys) | not provided [RCV002796392] | uncertain significance | 8 | 23007666 | 23007666 | Human | | name |
| 156191576 | CV2066401 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1931G>T (p.Arg644Leu) | not provided [RCV002828625] | likely benign | 8 | 23015708 | 23015708 | Human | | name |
| 156195623 | CV2066578 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2083C>T (p.Arg695Trp) | not provided [RCV002828760] | benign|uncertain significance | 8 | 23017368 | 23017368 | Human | | name |
| 155990001 | CV2066756 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1934A>G (p.Lys645Arg) | not provided [RCV002842918] | uncertain significance | 8 | 23015711 | 23015711 | Human | | name |
| 155931345 | CV2067311 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1034T>G (p.Phe345Cys) | not provided [RCV002838780] | uncertain significance | 8 | 23007279 | 23007279 | Human | | name |
| 156211472 | CV2074262 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1960T>C (p.Ser654Pro) | not provided [RCV002829313] | uncertain significance | 8 | 23015737 | 23015737 | Human | | name |
| 155919549 | CV2102310 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1066G>A (p.Gly356Ser) | not provided [RCV002903282] | uncertain significance | 8 | 23007311 | 23007311 | Human | | name |
| 155934641 | CV2129425 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1468G>A (p.Val490Ile) | Inborn genetic diseases [RCV002970850]|not provided [RCV002970849] | benign|uncertain significance | 8 | 23007713 | 23007713 | Human | 1 | name |
| 156028910 | CV2139345 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1562G>C (p.Ser521Thr) | not provided [RCV002999052] | likely benign | 8 | 23008053 | 23008053 | Human | | name |
| 155946373 | CV2139471 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1574T>C (p.Met525Thr) | not provided [RCV002994367] | uncertain significance | 8 | 23008065 | 23008065 | Human | | name |
| 156047852 | CV2154133 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1994G>A (p.Arg665Gln) | not provided [RCV003019294] | uncertain significance | 8 | 23017279 | 23017279 | Human | | name |
| 156239199 | CV2156112 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1685T>C (p.Met562Thr) | not provided [RCV003008037] | uncertain significance | 8 | 23010602 | 23010602 | Human | | name |
| 156291540 | CV2156347 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1787C>A (p.Thr596Asn) | not provided [RCV003009990] | uncertain significance | 8 | 23014705 | 23014705 | Human | | name |
| 156045140 | CV2157707 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1584G>T (p.Met528Ile) | not provided [RCV003019206] | likely benign | 8 | 23008075 | 23008075 | Human | | name |
| 155994956 | CV2171510 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1247A>G (p.Lys416Arg) | not provided [RCV003034502] | benign|uncertain significance | 8 | 23007492 | 23007492 | Human | | name |
| 156122860 | CV2175048 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1657G>A (p.Ala553Thr) | not provided [RCV003055534] | uncertain significance | 8 | 23010574 | 23010574 | Human | | name |
| 156373344 | CV2185239 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1899C>G (p.His633Gln) | not provided [RCV003049892] | uncertain significance | 8 | 23015676 | 23015676 | Human | | name |
| 156147630 | CV2188462 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1166G>C (p.Trp389Ser) | not provided [RCV003056417] | likely benign | 8 | 23007411 | 23007411 | Human | | name |
| 156356061 | CV2188846 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1778A>G (p.Tyr593Cys) | not provided [RCV003048694] | uncertain significance | 8 | 23014696 | 23014696 | Human | | name |
| 156352946 | CV2190521 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1651A>G (p.Met551Val) | not provided [RCV003048473] | uncertain significance | 8 | 23010568 | 23010568 | Human | | name |
| 156095025 | CV2213537 | single nucleotide variant | NM_014899.4(RHOBTB3):c.1273G>A (p.Glu425Lys) | not specified [RCV004087496] | uncertain significance | 5 | 95768157 | 95768157 | Human | | name |
| 155986725 | CV2259394 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1630C>G (p.Pro544Ala) | Inborn genetic diseases [RCV002793324] | likely benign | 8 | 23010547 | 23010547 | Human | 1 | name |
| 156152626 | CV2265929 | single nucleotide variant | NM_014836.5(RHOBTB1):c.2048G>C (p.Arg683Thr) | not specified [RCV004126776] | uncertain significance | 10 | 60871525 | 60871525 | Human | | name |
| 156171297 | CV2267657 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1798T>C (p.Tyr600His) | not specified [RCV004134207] | uncertain significance | 10 | 60874971 | 60874971 | Human | | name |
| 156270108 | CV2276541 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1258A>G (p.Thr420Ala) | not specified [RCV004146041] | uncertain significance | 10 | 60888410 | 60888410 | Human | | name |
| 156063493 | CV2277436 | single nucleotide variant | NM_014899.4(RHOBTB3):c.1106G>C (p.Gly369Ala) | not specified [RCV004144841] | uncertain significance | 5 | 95763565 | 95763565 | Human | | name |
| 156284557 | CV2291914 | single nucleotide variant | NM_014836.5(RHOBTB1):c.2008C>G (p.Arg670Gly) | not specified [RCV004158431] | uncertain significance | 10 | 60871565 | 60871565 | Human | | name |
| 156196729 | CV2306748 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1935G>C (p.Lys645Asn) | Inborn genetic diseases [RCV002892881] | uncertain significance | 8 | 23015712 | 23015712 | Human | 1 | name |
| 155981953 | CV2337109 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1994G>A (p.Arg665His) | not specified [RCV004192871] | uncertain significance | 10 | 60871579 | 60871579 | Human | | name |
| 156189524 | CV2356623 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1234C>T (p.Arg412Trp) | not specified [RCV004201987] | uncertain significance | 10 | 60888434 | 60888434 | Human | | name |
| 156008610 | CV2365286 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1276A>G (p.Lys426Glu) | not specified [RCV004209380] | uncertain significance | 10 | 60888392 | 60888392 | Human | | name |
| 155932715 | CV2400079 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1606A>G (p.Met536Val) | not specified [RCV004246993] | uncertain significance | 10 | 60878028 | 60878028 | Human | | name |
| 243060183 | CV2413750 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1331A>G (p.Asp444Gly) | Developmental and epileptic encephalopathy, 64 [RCV003135772] | uncertain significance | 8 | 23007576 | 23007576 | Human | 1 | name |
| 243051088 | CV2415645 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1702G>T (p.Asp568Tyr) | Developmental and epileptic encephalopathy, 64 [RCV003148246] | uncertain significance | 8 | 23010619 | 23010619 | Human | 1 | name |
| 329396715 | CV2455726 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1988A>G (p.Lys663Arg) | Inborn genetic diseases [RCV003219687]|not provided [RCV003679174] | uncertain significance | 8 | 23017273 | 23017273 | Human | 1 | name |
| 329399083 | CV2471889 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2056G>A (p.Glu686Lys) | Inborn genetic diseases [RCV003220763] | uncertain significance | 8 | 23017341 | 23017341 | Human | 1 | name |
| 329953363 | CV2668337 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1961C>T (p.Ser654Phe) | not provided [RCV003229990] | uncertain significance | 8 | 23015738 | 23015738 | Human | | name |
| 329952439 | CV2671770 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1175C>G (p.Ala392Gly) | not provided [RCV003237167] | uncertain significance | 8 | 23007420 | 23007420 | Human | | name |
| 401757435 | CV2693001 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1699C>G (p.Pro567Ala) | Inborn genetic diseases [RCV003256043] | uncertain significance | 8 | 23010616 | 23010616 | Human | 1 | name |
| 401749088 | CV2708463 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1117G>C (p.Gly373Arg) | not specified [RCV004313558] | uncertain significance | 10 | 60888551 | 60888551 | Human | | name |
| 401777636 | CV2718280 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1288C>T (p.Leu430Phe) | Inborn genetic diseases [RCV003263611] | uncertain significance | 8 | 23007533 | 23007533 | Human | 1 | name |
| 401723124 | CV2737784 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1067G>T (p.Gly356Val) | not provided [RCV003314956] | uncertain significance | 8 | 23007312 | 23007312 | Human | | name |
| 401858715 | CV2750631 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1697G>A (p.Ser566Asn) | not provided [RCV003334304] | uncertain significance | 8 | 23010614 | 23010614 | Human | | name |
| 401855502 | CV2752803 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2140G>A (p.Ala714Thr) | Developmental and epileptic encephalopathy, 64 [RCV003337857] | uncertain significance | 8 | 23017425 | 23017425 | Human | 1 | name |
| 401886852 | CV2767935 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1830C>A (p.His610Gln) | not specified [RCV004348187] | uncertain significance | 10 | 60872276 | 60872276 | Human | | name |
| 401894774 | CV2785107 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1040A>C (p.Lys347Thr) | not specified [RCV004355116] | likely benign | 10 | 60888628 | 60888628 | Human | | name |
| 401898422 | CV2787889 | single nucleotide variant | NM_014899.4(RHOBTB3):c.1825T>A (p.Leu609Ile) | not specified [RCV004358566] | uncertain significance | 5 | 95793163 | 95793163 | Human | | name |
| 401925719 | CV2820961 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1381C>T (p.Arg461Cys) | not provided [RCV003436802] | uncertain significance | 8 | 23007626 | 23007626 | Human | | name |
| 401964133 | CV2843512 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1474G>C (p.Glu492Gln) | not specified [RCV003479855] | uncertain significance | 8 | 23007719 | 23007719 | Human | | name |
| 405205904 | CV2854964 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1978T>G (p.Tyr660Asp) | not provided [RCV003551866] | uncertain significance | 8 | 23017263 | 23017263 | Human | | name |
| 402485610 | CV2855226 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1433T>C (p.Ile478Thr) | not provided [RCV003544385] | uncertain significance | 8 | 23007678 | 23007678 | Human | | name |
| 405125662 | CV2886494 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1685T>A (p.Met562Lys) | not provided [RCV003559544] | likely benign | 8 | 23010602 | 23010602 | Human | | name |
| 405154290 | CV2894230 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1727T>G (p.Ile576Ser) | not provided [RCV003561941] | benign | 8 | 23010644 | 23010644 | Human | | name |
| 405189273 | CV2918042 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1915T>G (p.Tyr639Asp) | not provided [RCV003564755] | uncertain significance | 8 | 23015692 | 23015692 | Human | | name |
| 402479095 | CV2924911 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1120A>G (p.Asn374Asp) | not provided [RCV003571878] | uncertain significance | 8 | 23007365 | 23007365 | Human | | name |
| 402502967 | CV2932669 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2045G>C (p.Arg682Pro) | not provided [RCV003574187] | uncertain significance | 8 | 23017330 | 23017330 | Human | | name |
| 405038250 | CV2933119 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1067G>A (p.Gly356Asp) | Inborn genetic diseases [RCV004371454]|not provided [RCV003578904] | uncertain significance | 8 | 23007312 | 23007312 | Human | 1 | name |
| 405011407 | CV2933725 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1078G>A (p.Ala360Thr) | not provided [RCV003576764] | uncertain significance | 8 | 23007323 | 23007323 | Human | | name |
| 405089393 | CV2939656 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1983C>G (p.Phe661Leu) | not provided [RCV003665180] | uncertain significance | 8 | 23017268 | 23017268 | Human | | name |
| 405171130 | CV2951245 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1172G>A (p.Arg391Gln) | not provided [RCV003675361] | uncertain significance | 8 | 23007417 | 23007417 | Human | | name |
| 405186663 | CV2963899 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2080A>C (p.Lys694Gln) | not provided [RCV003676714] | uncertain significance | 8 | 23017365 | 23017365 | Human | | name |
| 405245838 | CV2965549 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1285G>A (p.Val429Ile) | not provided [RCV003685275] | uncertain significance | 8 | 23007530 | 23007530 | Human | | name |
| 405220449 | CV2969725 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2048A>G (p.Lys683Arg) | not provided [RCV003680600] | uncertain significance | 8 | 23017333 | 23017333 | Human | | name |
| 405239166 | CV2983385 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1890G>A (p.Trp630Ter) | not provided [RCV003683651] | uncertain significance | 8 | 23015667 | 23015667 | Human | | name |
| 405230277 | CV2987398 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1006C>G (p.Arg336Gly) | not provided [RCV003711400] | uncertain significance | 8 | 23007251 | 23007251 | Human | | name |
| 405020821 | CV2992686 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1442C>A (p.Ala481Asp) | not provided [RCV003694813] | uncertain significance | 8 | 23007687 | 23007687 | Human | | name |
| 402496680 | CV3005918 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2012A>T (p.Tyr671Phe) | not provided [RCV003688080] | uncertain significance | 8 | 23017297 | 23017297 | Human | | name |
| 405129548 | CV3010788 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1855G>A (p.Ala619Thr) | not provided [RCV003701548] | uncertain significance | 8 | 23014773 | 23014773 | Human | | name |
| 405201855 | CV3041365 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1045G>A (p.Glu349Lys) | not provided [RCV003707467] | uncertain significance | 8 | 23007290 | 23007290 | Human | | name |
| 405222216 | CV3056917 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2054G>A (p.Arg685His) | not provided [RCV003733486] | uncertain significance | 8 | 23017339 | 23017339 | Human | | name |
| 405211248 | CV3058970 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1333C>G (p.Leu445Val) | not provided [RCV003731938] | benign | 8 | 23007578 | 23007578 | Human | | name |
| 405154563 | CV3068781 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1655G>A (p.Arg552Gln) | not provided [RCV003726653] | uncertain significance | 8 | 23010572 | 23010572 | Human | | name |
| 405237558 | CV3081023 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1576G>A (p.Ala526Thr) | not provided [RCV003736186] | benign | 8 | 23008067 | 23008067 | Human | | name |
| 405095639 | CV3119070 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1409A>G (p.Asn470Ser) | not provided [RCV003811521] | uncertain significance | 8 | 23007654 | 23007654 | Human | | name |
| 405146294 | CV3126512 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1797G>A (p.Met599Ile) | not provided [RCV003817239] | benign|uncertain significance | 8 | 23014715 | 23014715 | Human | | name |
| 405129423 | CV3133278 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1343T>C (p.Ile448Thr) | not provided [RCV003838248] | uncertain significance | 8 | 23007588 | 23007588 | Human | | name |
| 405024410 | CV3139483 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2165C>T (p.Ser722Phe) | not provided [RCV003830126] | uncertain significance | 8 | 23017450 | 23017450 | Human | | name |
| 405161155 | CV3153040 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2039G>A (p.Arg680Gln) | not provided [RCV003840775] | benign | 8 | 23017324 | 23017324 | Human | | name |
| 405222232 | CV3154900 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1148G>T (p.Gly383Val) | not provided [RCV003847395] | uncertain significance | 8 | 23007393 | 23007393 | Human | | name |
| 405232558 | CV3157602 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1021C>T (p.Arg341Ter) | not provided [RCV003865552] | uncertain significance | 8 | 23007266 | 23007266 | Human | | name |
| 405241566 | CV3176977 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1871C>T (p.Ala624Val) | not provided [RCV003867418] | uncertain significance | 8 | 23015648 | 23015648 | Human | | name |
| 405250460 | CV3180746 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1959G>A (p.Met653Ile) | not provided [RCV003870023] | benign|uncertain significance | 8 | 23015736 | 23015736 | Human | | name |
| 405717056 | CV3309405 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1358T>C (p.Met453Thr) | not specified [RCV004449344] | uncertain significance | 10 | 60888310 | 60888310 | Human | | name |
| 405717068 | CV3309406 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1394A>C (p.Lys465Thr) | not specified [RCV004449345] | uncertain significance | 10 | 60888274 | 60888274 | Human | | name |
| 405734148 | CV3309407 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1498A>G (p.Lys500Glu) | not specified [RCV004451413] | uncertain significance | 10 | 60886189 | 60886189 | Human | | name |
| 405734153 | CV3309408 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1588A>T (p.Asn530Tyr) | not specified [RCV004451414] | uncertain significance | 10 | 60878046 | 60878046 | Human | | name |
| 405734210 | CV3309414 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1279C>T (p.Arg427Trp) | Inborn genetic diseases [RCV004451420]|not provided [RCV004721809] | likely benign | 8 | 23007524 | 23007524 | Human | 1 | name |
| 405734219 | CV3309415 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1837C>T (p.Leu613Phe) | Inborn genetic diseases [RCV004451421] | uncertain significance | 8 | 23014755 | 23014755 | Human | 1 | name |
| 405734227 | CV3309416 | single nucleotide variant | NM_014899.4(RHOBTB3):c.1027A>C (p.Ile343Leu) | not specified [RCV004451422] | uncertain significance | 5 | 95755740 | 95755740 | Human | | name |
| 405734247 | CV3309418 | single nucleotide variant | NM_014899.4(RHOBTB3):c.1406A>G (p.Glu469Gly) | not specified [RCV004451424] | uncertain significance | 5 | 95780375 | 95780375 | Human | | name |
| 405734254 | CV3309419 | single nucleotide variant | NM_014899.4(RHOBTB3):c.1465T>C (p.Phe489Leu) | not specified [RCV004451425] | uncertain significance | 5 | 95783805 | 95783805 | Human | | name |
| 405734263 | CV3309420 | single nucleotide variant | NM_014899.4(RHOBTB3):c.1601T>C (p.Val534Ala) | not specified [RCV004451426] | uncertain significance | 5 | 95783941 | 95783941 | Human | | name |
| 405734271 | CV3309421 | single nucleotide variant | NM_014899.4(RHOBTB3):c.1730G>A (p.Arg577His) | not specified [RCV004451427] | uncertain significance | 5 | 95793068 | 95793068 | Human | | name |
| 405734279 | CV3309422 | single nucleotide variant | NM_014899.4(RHOBTB3):c.1760C>T (p.Ser587Leu) | not specified [RCV004451428] | uncertain significance | 5 | 95793098 | 95793098 | Human | | name |
| 405734285 | CV3309423 | single nucleotide variant | NM_014899.4(RHOBTB3):c.1769A>G (p.Tyr590Cys) | not specified [RCV004451429] | uncertain significance | 5 | 95793107 | 95793107 | Human | | name |
| 405734295 | CV3309424 | single nucleotide variant | NM_014899.4(RHOBTB3):c.1810C>T (p.Arg604Trp) | not specified [RCV004451430] | uncertain significance | 5 | 95793148 | 95793148 | Human | | name |
| 405855222 | CV3393984 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1342A>G (p.Ile448Val) | Developmental and epileptic encephalopathy, 64 [RCV004547210] | uncertain significance | 8 | 23007587 | 23007587 | Human | 1 | name |
| 407474617 | CV3472926 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1599G>T (p.Lys533Asn) | not specified [RCV004663045] | uncertain significance | 10 | 60878035 | 60878035 | Human | | name |
| 407474622 | CV3472927 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1895G>T (p.Arg632Leu) | not specified [RCV004663046] | uncertain significance | 10 | 60872211 | 60872211 | Human | | name |
| 407474894 | CV3472928 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1654C>T (p.Arg552Trp) | Inborn genetic diseases [RCV004663047] | uncertain significance | 8 | 23010571 | 23010571 | Human | 1 | name |
| 407474886 | CV3472930 | single nucleotide variant | NM_014899.4(RHOBTB3):c.1217A>G (p.Tyr406Cys) | not specified [RCV004663049] | uncertain significance | 5 | 95768101 | 95768101 | Human | | name |
| 407508166 | CV3472931 | single nucleotide variant | NM_014899.4(RHOBTB3):c.1438A>G (p.Thr480Ala) | not specified [RCV004671954] | uncertain significance | 5 | 95780407 | 95780407 | Human | | name |
| 407474882 | CV3472932 | single nucleotide variant | NM_014899.4(RHOBTB3):c.1540A>T (p.Ile514Phe) | not specified [RCV004663050] | uncertain significance | 5 | 95783880 | 95783880 | Human | | name |
| 407506726 | CV3496179 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1454G>T (p.Arg485Leu) | not provided [RCV004698020] | uncertain significance | 8 | 23007699 | 23007699 | Human | | name |
| 408381676 | CV3501995 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1991A>G (p.His664Arg) | not provided [RCV004729523] | uncertain significance | 8 | 23017276 | 23017276 | Human | | name |
| 596931179 | CV3531512 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1717A>T (p.Lys573Ter) | not provided [RCV004781074] | uncertain significance | 8 | 23010634 | 23010634 | Human | | name |
| 596928052 | CV3532787 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1043G>A (p.Cys348Tyr) | not provided [RCV004778885] | uncertain significance | 8 | 23007288 | 23007288 | Human | | name |
| 596945945 | CV3550311 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2064G>C (p.Glu688Asp) | Developmental and epileptic encephalopathy, 64 [RCV004818850] | uncertain significance | 8 | 23017349 | 23017349 | Human | 1 | name |
| 597776194 | CV3586554 | single nucleotide variant | NM_014836.5(RHOBTB1):c.2024T>C (p.Ile675Thr) | not specified [RCV004852451] | uncertain significance | 10 | 60871549 | 60871549 | Human | | name |
| 597788377 | CV3586555 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1084G>A (p.Glu362Lys) | not specified [RCV004855484] | uncertain significance | 10 | 60888584 | 60888584 | Human | | name |
| 597788381 | CV3586556 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1597A>G (p.Lys533Glu) | not specified [RCV004855485] | uncertain significance | 10 | 60878037 | 60878037 | Human | | name |
| 597776211 | CV3586561 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1823A>G (p.Asn608Ser) | not specified [RCV004852455] | uncertain significance | 10 | 60872283 | 60872283 | Human | | name |
| 597718274 | CV3586564 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1652T>G (p.Met551Arg) | Inborn genetic diseases [RCV004960111] | uncertain significance | 8 | 23010569 | 23010569 | Human | 1 | name |
| 597788387 | CV3586569 | single nucleotide variant | NM_014899.4(RHOBTB3):c.1732A>G (p.Ser578Gly) | not specified [RCV004855487] | uncertain significance | 5 | 95793070 | 95793070 | Human | | name |
| 597776222 | CV3586570 | single nucleotide variant | NM_014899.4(RHOBTB3):c.1226C>T (p.Ser409Phe) | not specified [RCV004852458] | uncertain significance | 5 | 95768110 | 95768110 | Human | | name |
| 597788395 | CV3586575 | single nucleotide variant | NM_014899.4(RHOBTB3):c.1378C>G (p.Leu460Val) | not specified [RCV004855489] | uncertain significance | 5 | 95780347 | 95780347 | Human | | name |
| 597831529 | CV3740083 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1072G>A (p.Gly358Ser) | Developmental and epileptic encephalopathy, 64 [RCV005208227]|not provided [RCV005062782] | uncertain significance | 8 | 23007317 | 23007317 | Human | 1 | name |
| 597856329 | CV3748028 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1933A>T (p.Lys645Ter) | not provided [RCV005066850] | uncertain significance | 8 | 23015710 | 23015710 | Human | | name |
| 597923575 | CV3748394 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1970A>G (p.Asn657Ser) | not provided [RCV005075041] | uncertain significance | 8 | 23017255 | 23017255 | Human | | name |
| 597965529 | CV3751169 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1079C>T (p.Ala360Val) | not provided [RCV005082731] | uncertain significance | 8 | 23007324 | 23007324 | Human | | name |
| 597961236 | CV3753201 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1153G>A (p.Val385Met) | not provided [RCV005081701] | uncertain significance | 8 | 23007398 | 23007398 | Human | | name |
| 597924178 | CV3778004 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1138C>T (p.Pro380Ser) | not provided [RCV005130728] | uncertain significance | 8 | 23007383 | 23007383 | Human | | name |
| 597897218 | CV3782262 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1417T>C (p.Phe473Leu) | not provided [RCV005126487] | uncertain significance | 8 | 23007662 | 23007662 | Human | | name |
| 597892964 | CV3784909 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2141C>T (p.Ala714Val) | not provided [RCV005125688] | uncertain significance | 8 | 23017426 | 23017426 | Human | | name |
| 597968591 | CV3791000 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1251G>A (p.Met417Ile) | not provided [RCV005141032] | uncertain significance | 8 | 23007496 | 23007496 | Human | | name |
| 597974980 | CV3798658 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1484C>G (p.Ala495Gly) | not provided [RCV005144246] | uncertain significance | 8 | 23007729 | 23007729 | Human | | name |
| 597868486 | CV3803338 | single nucleotide variant | NM_015178.3(RHOBTB2):c.2116A>G (p.Ser706Gly) | not provided [RCV005147935] | uncertain significance | 8 | 23017401 | 23017401 | Human | | name |
| 597920531 | CV3811797 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1322A>G (p.Asn441Ser) | not provided [RCV005155628] | uncertain significance | 8 | 23007567 | 23007567 | Human | | name |
| 597943766 | CV3812322 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1966G>A (p.Glu656Lys) | not provided [RCV005159532] | uncertain significance | 8 | 23015743 | 23015743 | Human | | name |
| 597860752 | CV3813439 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1276T>G (p.Phe426Val) | not provided [RCV005146701] | uncertain significance | 8 | 23007521 | 23007521 | Human | | name |
| 597967535 | CV3824264 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1922A>G (p.Asn641Ser) | not provided [RCV005165487] | uncertain significance | 8 | 23015699 | 23015699 | Human | | name |
| 597837367 | CV3828796 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1059G>C (p.Glu353Asp) | not provided [RCV005171489] | uncertain significance | 8 | 23007304 | 23007304 | Human | | name |
| 597895212 | CV3833647 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1739G>A (p.Arg580His) | not provided [RCV005180339] | uncertain significance | 8 | 23010656 | 23010656 | Human | | name |
| 597870959 | CV3835629 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1691C>A (p.Thr564Asn) | not provided [RCV005176620] | uncertain significance | 8 | 23010608 | 23010608 | Human | | name |
| 597966853 | CV3855655 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1616G>A (p.Arg539Gln) | not provided [RCV005194635] | benign | 8 | 23008107 | 23008107 | Human | | name |
| 598190079 | CV3902704 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1556T>C (p.Val519Ala) | not specified [RCV005266799] | uncertain significance | 10 | 60886131 | 60886131 | Human | | name |
| 598190096 | CV3902706 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1763C>T (p.Thr588Met) | not specified [RCV005266801] | likely benign | 10 | 60875006 | 60875006 | Human | | name |
| 598190101 | CV3902707 | single nucleotide variant | NM_014836.5(RHOBTB1):c.2041C>T (p.Arg681Cys) | not specified [RCV005266802] | uncertain significance | 10 | 60871532 | 60871532 | Human | | name |
| 598190110 | CV3902708 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1943G>A (p.Arg648Gln) | not specified [RCV005266803] | uncertain significance | 10 | 60871630 | 60871630 | Human | | name |
| 598190116 | CV3902709 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1520G>T (p.Cys507Phe) | not specified [RCV005266804] | uncertain significance | 10 | 60886167 | 60886167 | Human | | name |
| 598190122 | CV3902710 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1285G>A (p.Asp429Asn) | not specified [RCV005266805] | uncertain significance | 10 | 60888383 | 60888383 | Human | | name |
| 598190129 | CV3902711 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1522G>A (p.Glu508Lys) | not specified [RCV005266806] | likely benign | 10 | 60886165 | 60886165 | Human | | name |
| 598190142 | CV3902713 | single nucleotide variant | NM_014836.5(RHOBTB1):c.1201A>G (p.Arg401Gly) | not specified [RCV005266808] | uncertain significance | 10 | 60888467 | 60888467 | Human | | name |
| 598190148 | CV3902714 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1402C>A (p.Leu468Ile) | Inborn genetic diseases [RCV005266809] | uncertain significance | 8 | 23007647 | 23007647 | Human | 1 | name |
| 598190161 | CV3902716 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1124G>A (p.Gly375Glu) | Inborn genetic diseases [RCV005266811] | uncertain significance | 8 | 23007369 | 23007369 | Human | 1 | name |
| 617149496 | CV4017428 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1945G>A (p.Asp649Asn) | not provided [RCV005417086] | uncertain significance | 8 | 23015722 | 23015722 | Human | | name |
| 13517208 | CV486748 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) | Developmental and epileptic encephalopathy, 64 [RCV000656374]|Inborn genetic diseases [RCV001266474]|Rett syndrome [RCV000585816]|not provided [RCV001090302] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity | 8 | 23007710 | 23007710 | Human | 3 | name |
| 13532122 | CV511754 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1462A>G (p.Asn488Asp) | Developmental and epileptic encephalopathy, 64 [RCV000656375]|Inborn genetic diseases [RCV000623936]|not provided [RCV005091813] | pathogenic|likely pathogenic|uncertain significance | 8 | 23007707 | 23007707 | Human | 2 | name |
| 13673999 | CV535681 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) | Developmental and epileptic encephalopathy, 64 [RCV000656372]|Inborn genetic diseases [RCV001265836]|not provided [RCV001268457] | pathogenic|likely pathogenic | 8 | 23007627 | 23007627 | Human | 2 | name |
| 13674000 | CV535682 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln) | Developmental and epileptic encephalopathy, 64 [RCV000656373]|Dystonic disorder [RCV001003967]|Inborn genetic diseases [RCV001267320]|not provided [RCV001311325] | pathogenic|likely pathogenic | 8 | 23007711 | 23007711 | Human | 5 | name |
| 13674001 | CV535685 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1355C>G (p.Ala452Gly) | Developmental and epileptic encephalopathy, 64 [RCV000656376] | pathogenic|likely pathogenic | 8 | 23007600 | 23007600 | Human | 1 | name |
| 14393217 | CV609309 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys) | Developmental and epileptic encephalopathy, 64 [RCV000755717]|not provided [RCV001052516] | pathogenic|likely pathogenic | 8 | 23007698 | 23007698 | Human | 1 | name |
| 15169776 | CV700526 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1931G>A (p.Arg644His) | not provided [RCV000949524] | benign|likely benign | 8 | 23015708 | 23015708 | Human | | name |
| 28876714 | CV859657 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1465C>G (p.Arg489Gly) | Developmental and epileptic encephalopathy, 64 [RCV001775156]|not provided [RCV001090301] | pathogenic|likely pathogenic | 8 | 23007710 | 23007710 | Human | 1 | name |
| 8631747 | CV86953 | single nucleotide variant | NM_014899.3(RHOBTB3):c.1382T>A (p.Ile461Asn) | Malignant melanoma [RCV000067044] | not provided | 5 | 95780351 | 95780351 | Human | | name |
| 8631748 | CV86954 | single nucleotide variant | NM_014899.3(RHOBTB3):c.1385C>A (p.Pro462His) | Malignant melanoma [RCV000067045] | not provided | 5 | 95780354 | 95780354 | Human | | name |
| 38467442 | CV920789 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1376A>G (p.Asp459Gly) | Developmental and epileptic encephalopathy, 64 [RCV001809992]|not provided [RCV001200302] | conflicting interpretations of pathogenicity|uncertain significance | 8 | 23007621 | 23007621 | Human | 1 | name |
| 38463895 | CV961289 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1837C>G (p.Leu613Val) | Developmental and epileptic encephalopathy, 64 [RCV001249354] | not provided | 8 | 23014755 | 23014755 | Human | | name |
| 40886916 | CV973660 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1346C>T (p.Ala449Val) | Inborn genetic diseases [RCV001266232]|not provided [RCV001880114] | uncertain significance | 8 | 23007591 | 23007591 | Human | 1 | name |
| 41407126 | CV980701 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1150C>T (p.Arg384Cys) | Developmental and epileptic encephalopathy, 64 [RCV004799639]|not provided [RCV003106177] | benign|uncertain significance | 8 | 23007395 | 23007395 | Human | 1 | name |
| 42723723 | CV984582 | single nucleotide variant | NM_015178.3(RHOBTB2):c.1621G>A (p.Val541Met) | Developmental and epileptic encephalopathy, 64 [RCV001291730] | uncertain significance | 8 | 23010538 | 23010538 | Human | 1 | name |
| 151881396 | CV1475690 | deletion | NM_015178.3(RHOBTB2):c.401_402del (p.Pro134fs) | See cases [RCV002252743]|not provided [RCV001961728] | uncertain significance | 8 | 23006064 | 23006065 | Human | | name |
| 155994069 | CV2286366 | duplication | NM_015178.3(RHOBTB2):c.739_743dup (p.Pro249fs) | Inborn genetic diseases [RCV002864758] | uncertain significance | 8 | 23006980 | 23006981 | Human | 1 | name |
| 597870257 | CV3855167 | duplication | NM_015178.3(RHOBTB2):c.363_384dup (p.Phe129fs) | not provided [RCV005197332] | uncertain significance | 8 | 23006025 | 23006026 | Human | | name |
| 405179338 | CV3148784 | microsatellite | NM_015178.3(RHOBTB2):c.2145CTC[2] (p.Ser719del) | not provided [RCV003858562] | uncertain significance | 8 | 23017429 | 23017431 | Human | | name |
| 597718285 | CV3586566 | microsatellite | NM_015178.3(RHOBTB2):c.1810ATG[1] (p.Met605del) | Inborn genetic diseases [RCV004960113] | uncertain significance | 8 | 23014727 | 23014729 | Human | | name |
| 405222434 | CV2976237 | microsatellite | NM_015178.3(RHOBTB2):c.1869_1870del (p.Ala624fs) | not provided [RCV003680859] | uncertain significance | 8 | 23015644 | 23015645 | Human | | name |
| 597876146 | CV3775928 | duplication | NM_015178.3(RHOBTB2):c.1308_1309dup (p.Glu437fs) | not provided [RCV005123455] | uncertain significance | 8 | 23007549 | 23007550 | Human | | name |
| 152173185 | CV1652957 | insertion | NM_015178.3(RHOBTB2):c.1932_1933insT (p.Lys645Ter) | not provided [RCV002144028] | likely benign | 8 | 23015709 | 23015710 | Human | | name |
| 151722840 | CV1357968 | deletion | NM_015178.3(RHOBTB2):c.785_796del (p.Asp262_Cys265del) | not provided [RCV001945156] | uncertain significance | 8 | 23007029 | 23007040 | Human | | name |
| 402494590 | CV3183002 | deletion | NM_015178.3(RHOBTB2):c.987_995del (p.His332_His334del) | not provided [RCV003877310] | uncertain significance | 8 | 23007224 | 23007232 | Human | | name |
| 151715790 | CV1445571 | deletion | NM_015178.3(RHOBTB2):c.988_1002del (p.His330_His334del) | not provided [RCV002002902] | uncertain significance | 8 | 23007221 | 23007235 | Human | | name |
| 156070296 | CV1968665 | indel | NM_015178.3(RHOBTB2):c.1933_1935delinsTAC (p.Lys645Tyr) | Inborn genetic diseases [RCV002621223]|not provided [RCV002608547] | benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 23015710 | 23015712 | Human | | name |
| 156015385 | CV2177425 | duplication | NM_015178.3(RHOBTB2):c.1102_1119dup (p.Gly373_Asn374insAspGlyIleLeuArgGly) | not provided [RCV003035457] | likely benign|uncertain significance | 8 | 23007344 | 23007345 | Human | | name |