| 405292596 | CV3192570 | duplication | NM_001349074.2(TBC1D5):c.1246-3dup | TBC1D5-related disorder [RCV003929821] | likely benign | 3 | 17258593 | 17258594 | Human | | name , trait , alternate_id |
| 8578397 | CV112778 | single nucleotide variant | NM_001134381.1(TBC1D5):c.509+7813G>C | Lung cancer [RCV000093301] | uncertain significance | 3 | 17395368 | 17395368 | Human | | name |
| 405287452 | CV3210685 | single nucleotide variant | NM_001349074.2(TBC1D5):c.97+29078G>C | TBC1D5-related disorder [RCV003924447] | likely benign | 3 | 17479396 | 17479396 | Human | | name , trait , alternate_id |
| 156191771 | CV2289371 | single nucleotide variant | NM_001349074.2(TBC1D5):c.49C>G (p.Gln17Glu) | not specified [RCV004152337] | uncertain significance | 3 | 17508522 | 17508522 | Human | | name |
| 597761497 | CV3609593 | single nucleotide variant | NM_001349074.2(TBC1D5):c.58G>C (p.Gly20Arg) | not specified [RCV004869439] | uncertain significance | 3 | 17508513 | 17508513 | Human | | name |
| 401926262 | CV2827199 | single nucleotide variant | NM_001349074.2(TBC1D5):c.283C>T (p.Leu95Phe) | not provided [RCV003437722] | likely benign | 3 | 17404955 | 17404955 | Human | | name |
| 597761525 | CV3609599 | single nucleotide variant | NM_001349074.2(TBC1D5):c.262A>C (p.Ser88Arg) | not specified [RCV004869445] | uncertain significance | 3 | 17406432 | 17406432 | Human | | name |
| 597761537 | CV3609601 | single nucleotide variant | NM_001349074.2(TBC1D5):c.133A>G (p.Thr45Ala) | not specified [RCV004869447] | uncertain significance | 3 | 17428484 | 17428484 | Human | | name |
| 597761543 | CV3609602 | single nucleotide variant | NM_001349074.2(TBC1D5):c.203A>G (p.Tyr68Cys) | not specified [RCV004869448] | uncertain significance | 3 | 17406491 | 17406491 | Human | | name |
| 156382751 | CV2223619 | single nucleotide variant | NM_001349074.2(TBC1D5):c.987A>G (p.Ile329Met) | not specified [RCV004093756] | uncertain significance | 3 | 17372083 | 17372083 | Human | | name |
| 401725604 | CV2697480 | single nucleotide variant | NM_001349074.2(TBC1D5):c.549A>C (p.Arg183Ser) | not specified [RCV004297873] | uncertain significance | 3 | 17383976 | 17383976 | Human | | name |
| 401754059 | CV2719504 | single nucleotide variant | NM_001349074.2(TBC1D5):c.392T>C (p.Val131Ala) | not specified [RCV004326896] | uncertain significance | 3 | 17404743 | 17404743 | Human | | name |
| 401862221 | CV2766625 | single nucleotide variant | NM_001349074.2(TBC1D5):c.484A>G (p.Met162Val) | not specified [RCV004347235] | uncertain significance | 3 | 17403206 | 17403206 | Human | | name |
| 405790939 | CV3335269 | single nucleotide variant | NM_001349074.2(TBC1D5):c.775G>C (p.Glu259Gln) | not specified [RCV004474031] | uncertain significance | 3 | 17374518 | 17374518 | Human | | name |
| 405790936 | CV3335270 | single nucleotide variant | NM_001349074.2(TBC1D5):c.818A>G (p.Gln273Arg) | not specified [RCV004474032] | uncertain significance | 3 | 17374475 | 17374475 | Human | | name |
| 407512545 | CV3475553 | single nucleotide variant | NM_001349074.2(TBC1D5):c.988T>C (p.Tyr330His) | not specified [RCV004673469] | uncertain significance | 3 | 17372082 | 17372082 | Human | | name |
| 597761492 | CV3609592 | single nucleotide variant | NM_001349074.2(TBC1D5):c.305A>G (p.Lys102Arg) | not specified [RCV004869438] | uncertain significance | 3 | 17404933 | 17404933 | Human | | name |
| 597761502 | CV3609594 | single nucleotide variant | NM_001349074.2(TBC1D5):c.955C>A (p.His319Asn) | not specified [RCV004869440] | uncertain significance | 3 | 17372115 | 17372115 | Human | | name |
| 597761506 | CV3609595 | single nucleotide variant | NM_001349074.2(TBC1D5):c.881C>T (p.Thr294Ile) | not specified [RCV004869441] | uncertain significance | 3 | 17372189 | 17372189 | Human | | name |
| 597761548 | CV3609603 | single nucleotide variant | NM_001349074.2(TBC1D5):c.937G>A (p.Asp313Asn) | not specified [RCV004869449] | uncertain significance | 3 | 17372133 | 17372133 | Human | | name |
| 597761553 | CV3609604 | single nucleotide variant | NM_001349074.2(TBC1D5):c.839T>G (p.Met280Arg) | not specified [RCV004869450] | uncertain significance | 3 | 17372231 | 17372231 | Human | | name |
| 598196547 | CV3912876 | single nucleotide variant | NM_001349074.2(TBC1D5):c.409A>T (p.Met137Leu) | not specified [RCV005289448] | uncertain significance | 3 | 17404726 | 17404726 | Human | | name |
| 598196574 | CV3912881 | single nucleotide variant | NM_001349074.2(TBC1D5):c.649C>T (p.Leu217Phe) | not specified [RCV005289452] | uncertain significance | 3 | 17376577 | 17376577 | Human | | name |
| 598196580 | CV3912882 | single nucleotide variant | NM_001349074.2(TBC1D5):c.689C>G (p.Ser230Cys) | not specified [RCV005289453] | uncertain significance | 3 | 17376537 | 17376537 | Human | | name |
| 156166531 | CV2200921 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1880T>A (p.Met627Lys) | not specified [RCV004081536] | uncertain significance | 3 | 17185147 | 17185147 | Human | | name |
| 155980180 | CV2222990 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1229T>C (p.Phe410Ser) | not specified [RCV004103580] | uncertain significance | 3 | 17291911 | 17291911 | Human | | name |
| 156020703 | CV2226555 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1589G>A (p.Gly530Asp) | not specified [RCV004101812] | uncertain significance | 3 | 17233750 | 17233750 | Human | | name |
| 156343577 | CV2232807 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1222G>A (p.Ala408Thr) | not specified [RCV004101436] | uncertain significance | 3 | 17291918 | 17291918 | Human | | name |
| 156151497 | CV2245175 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1847T>C (p.Phe616Ser) | not specified [RCV004106956] | uncertain significance | 3 | 17185180 | 17185180 | Human | | name |
| 156210443 | CV2259806 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1690G>A (p.Val564Ile) | not specified [RCV004117075] | likely benign | 3 | 17214335 | 17214335 | Human | | name |
| 155902693 | CV2274742 | single nucleotide variant | NM_001349074.2(TBC1D5):c.2203G>A (p.Asp735Asn) | not specified [RCV004139103] | uncertain significance | 3 | 17161214 | 17161214 | Human | | name |
| 156268021 | CV2275592 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1635G>C (p.Gln545His) | not specified [RCV004137226] | uncertain significance | 3 | 17233704 | 17233704 | Human | | name |
| 156171016 | CV2317181 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1517A>G (p.His506Arg) | not specified [RCV004176543] | uncertain significance | 3 | 17238234 | 17238234 | Human | | name |
| 156038021 | CV2374122 | single nucleotide variant | NM_001349074.2(TBC1D5):c.2117G>A (p.Arg706Gln) | not specified [RCV004227233] | uncertain significance | 3 | 17166810 | 17166810 | Human | | name |
| 156081169 | CV2384721 | single nucleotide variant | NM_001349074.2(TBC1D5):c.2404G>A (p.Asp802Asn) | not specified [RCV004232489] | uncertain significance | 3 | 17161013 | 17161013 | Human | | name |
| 329361683 | CV2468203 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1573G>A (p.Val525Met) | not specified [RCV004275784] | uncertain significance | 3 | 17238178 | 17238178 | Human | | name |
| 401770741 | CV2707383 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1165C>G (p.Leu389Val) | not specified [RCV004312774] | uncertain significance | 3 | 17291975 | 17291975 | Human | | name |
| 401871421 | CV2763718 | single nucleotide variant | NM_001349074.2(TBC1D5):c.2067G>C (p.Gln689His) | not specified [RCV004343213] | uncertain significance | 3 | 17166860 | 17166860 | Human | | name |
| 405280870 | CV3190640 | single nucleotide variant | NM_001349074.2(TBC1D5):c.2078C>A (p.Ala693Glu) | TBC1D5-related disorder [RCV003907078] | likely benign | 3 | 17166849 | 17166849 | Human | | name , trait , alternate_id |
| 405272858 | CV3216843 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1918G>C (p.Val640Leu) | TBC1D5-related disorder [RCV003972325] | likely benign | 3 | 17185109 | 17185109 | Human | | name , trait , alternate_id |
| 405790956 | CV3335263 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1007G>A (p.Arg336Gln) | not specified [RCV004474025] | uncertain significance | 3 | 17308123 | 17308123 | Human | | name |
| 405790951 | CV3335265 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1717T>A (p.Phe573Ile) | not specified [RCV004474027] | uncertain significance | 3 | 17214308 | 17214308 | Human | | name |
| 405790948 | CV3335266 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1913A>G (p.His638Arg) | not specified [RCV004474028] | uncertain significance | 3 | 17185114 | 17185114 | Human | | name |
| 405790945 | CV3335267 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1961A>G (p.Glu654Gly) | not specified [RCV004474029] | uncertain significance | 3 | 17167786 | 17167786 | Human | | name |
| 405790942 | CV3335268 | single nucleotide variant | NM_001349074.2(TBC1D5):c.2053G>A (p.Glu685Lys) | not specified [RCV004474030] | uncertain significance | 3 | 17166874 | 17166874 | Human | | name |
| 407512540 | CV3475551 | single nucleotide variant | NM_001349074.2(TBC1D5):c.2117G>C (p.Arg706Pro) | not specified [RCV004673467] | uncertain significance | 3 | 17166810 | 17166810 | Human | | name |
| 407512543 | CV3475552 | single nucleotide variant | NM_001349074.2(TBC1D5):c.2027G>A (p.Arg676His) | not specified [RCV004673468] | uncertain significance | 3 | 17166900 | 17166900 | Human | | name |
| 407530652 | CV3475554 | single nucleotide variant | NM_001349074.2(TBC1D5):c.2434G>T (p.Val812Leu) | not specified [RCV004682018] | uncertain significance | 3 | 17160983 | 17160983 | Human | | name |
| 407512549 | CV3475555 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1145C>G (p.Ser382Cys) | not specified [RCV004673470] | uncertain significance | 3 | 17291995 | 17291995 | Human | | name |
| 407512552 | CV3475556 | single nucleotide variant | NM_001349074.2(TBC1D5):c.2161G>C (p.Ala721Pro) | not specified [RCV004673471] | uncertain significance | 3 | 17161256 | 17161256 | Human | | name |
| 407530654 | CV3475557 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1661G>A (p.Ser554Asn) | not specified [RCV004682019] | uncertain significance | 3 | 17214364 | 17214364 | Human | | name |
| 407512555 | CV3475558 | single nucleotide variant | NM_001349074.2(TBC1D5):c.2401G>A (p.Asp801Asn) | not specified [RCV004673472] | uncertain significance | 3 | 17161016 | 17161016 | Human | | name |
| 597761473 | CV3609588 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1827A>T (p.Glu609Asp) | not specified [RCV004869434] | uncertain significance | 3 | 17185200 | 17185200 | Human | | name |
| 597761478 | CV3609589 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1591G>A (p.Asp531Asn) | not specified [RCV004869435] | uncertain significance | 3 | 17233748 | 17233748 | Human | | name |
| 597761483 | CV3609590 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1063T>G (p.Leu355Val) | not specified [RCV004869436] | uncertain significance | 3 | 17308067 | 17308067 | Human | | name |
| 597761487 | CV3609591 | single nucleotide variant | NM_001349074.2(TBC1D5):c.2123A>G (p.Gln708Arg) | not specified [RCV004869437] | uncertain significance | 3 | 17166804 | 17166804 | Human | | name |
| 597761515 | CV3609597 | single nucleotide variant | NM_001349074.2(TBC1D5):c.2050G>A (p.Ala684Thr) | not specified [RCV004869443] | uncertain significance | 3 | 17166877 | 17166877 | Human | | name |
| 597761520 | CV3609598 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1250A>G (p.Asn417Ser) | not specified [RCV004869444] | uncertain significance | 3 | 17258587 | 17258587 | Human | | name |
| 597761530 | CV3609600 | single nucleotide variant | NM_001349074.2(TBC1D5):c.2066A>G (p.Gln689Arg) | not specified [RCV004869446] | uncertain significance | 3 | 17166861 | 17166861 | Human | | name |
| 597761557 | CV3609605 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1997A>C (p.Gln666Pro) | not specified [RCV004869451] | uncertain significance | 3 | 17167750 | 17167750 | Human | | name |
| 598196553 | CV3912877 | single nucleotide variant | NM_001349074.2(TBC1D5):c.2101G>A (p.Gly701Ser) | not specified [RCV005289449] | uncertain significance | 3 | 17166826 | 17166826 | Human | | name |
| 598163061 | CV3912878 | single nucleotide variant | NM_001349074.2(TBC1D5):c.2281C>T (p.Arg761Cys) | not specified [RCV005283049] | uncertain significance | 3 | 17161136 | 17161136 | Human | | name |
| 598196559 | CV3912879 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1939T>G (p.Leu647Val) | not specified [RCV005289450] | uncertain significance | 3 | 17167808 | 17167808 | Human | | name |
| 598196566 | CV3912880 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1075G>A (p.Gly359Ser) | not specified [RCV005289451] | uncertain significance | 3 | 17308055 | 17308055 | Human | | name |
| 598163068 | CV3912883 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1304G>A (p.Arg435Gln) | not specified [RCV005283050] | uncertain significance | 3 | 17258533 | 17258533 | Human | | name |
| 598196585 | CV3912884 | single nucleotide variant | NM_001349074.2(TBC1D5):c.2142G>A (p.Met714Ile) | not specified [RCV005289454] | uncertain significance | 3 | 17166785 | 17166785 | Human | | name |
| 598196591 | CV3912885 | single nucleotide variant | NM_001349074.2(TBC1D5):c.1196G>A (p.Gly399Glu) | not specified [RCV005289455] | uncertain significance | 3 | 17291944 | 17291944 | Human | | name |