| 155915741 | CV2339197 | single nucleotide variant | NM_001128917.2(TOMM40):c.71G>A (p.Gly24Glu) | not specified [RCV004191442] | uncertain significance | 19 | 44891486 | 44891486 | Human | | name |
| 405757167 | CV3346902 | single nucleotide variant | NM_001128917.2(TOMM40):c.844C>T (p.Leu282=) | not specified [RCV004468002] | likely benign | 19 | 44901208 | 44901208 | Human | | name |
| 597786646 | CV3614327 | single nucleotide variant | NM_001128917.2(TOMM40):c.85C>G (p.Pro29Ala) | not specified [RCV004875397] | uncertain significance | 19 | 44891500 | 44891500 | Human | | name |
| 15136417 | CV716516 | single nucleotide variant | NM_001128917.2(TOMM40):c.657C>T (p.Ala219=) | not provided [RCV000965451] | benign | 19 | 44900743 | 44900743 | Human | | name |
| 156120798 | CV2233789 | single nucleotide variant | NM_001128917.2(TOMM40):c.128G>C (p.Ser43Thr) | not specified [RCV004100223] | uncertain significance | 19 | 44891543 | 44891543 | Human | | name |
| 156002473 | CV2288040 | single nucleotide variant | NM_001128917.2(TOMM40):c.193G>C (p.Ala65Pro) | not specified [RCV004147796] | uncertain significance | 19 | 44891608 | 44891608 | Human | | name |
| 401888917 | CV2765069 | single nucleotide variant | NM_001128917.2(TOMM40):c.193G>T (p.Ala65Ser) | not specified [RCV004337186] | uncertain significance | 19 | 44891608 | 44891608 | Human | | name |
| 401859291 | CV2771516 | single nucleotide variant | NM_001128917.2(TOMM40):c.227G>A (p.Cys76Tyr) | not specified [RCV004348548] | uncertain significance | 19 | 44891642 | 44891642 | Human | | name |
| 405757153 | CV3346900 | single nucleotide variant | NM_001128917.2(TOMM40):c.224G>T (p.Gly75Val) | not specified [RCV004468000] | uncertain significance | 19 | 44891639 | 44891639 | Human | | name |
| 407531587 | CV3486735 | single nucleotide variant | NM_001128917.2(TOMM40):c.172C>T (p.Pro58Ser) | not specified [RCV004682570] | uncertain significance | 19 | 44891587 | 44891587 | Human | | name |
| 407531590 | CV3486736 | single nucleotide variant | NM_001128917.2(TOMM40):c.287T>A (p.Ile96Asn) | not specified [RCV004682571] | uncertain significance | 19 | 44892405 | 44892405 | Human | | name |
| 597786641 | CV3614326 | single nucleotide variant | NM_001128917.2(TOMM40):c.145A>G (p.Ser49Gly) | not specified [RCV004875396] | likely benign | 19 | 44891560 | 44891560 | Human | | name |
| 598254394 | CV3928036 | single nucleotide variant | NM_001128917.2(TOMM40):c.113C>T (p.Pro38Leu) | not specified [RCV005278441] | uncertain significance | 19 | 44891528 | 44891528 | Human | | name |
| 598187916 | CV3928038 | single nucleotide variant | NM_001128917.2(TOMM40):c.149C>A (p.Thr50Lys) | not specified [RCV005287856] | uncertain significance | 19 | 44891564 | 44891564 | Human | | name |
| 15189904 | CV705095 | single nucleotide variant | NM_001128917.2(TOMM40):c.147T>G (p.Ser49Arg) | not provided [RCV000954317] | benign | 19 | 44891562 | 44891562 | Human | | name |
| 15121399 | CV741976 | single nucleotide variant | NM_001128917.2(TOMM40):c.276G>C (p.Glu92Asp) | not provided [RCV000896059] | likely benign | 19 | 44892394 | 44892394 | Human | | name |
| 156187354 | CV2195766 | single nucleotide variant | NM_001128917.2(TOMM40):c.383A>G (p.Asn128Ser) | not specified [RCV004076119] | uncertain significance | 19 | 44892877 | 44892877 | Human | | name |
| 155919676 | CV2202703 | single nucleotide variant | NM_001128917.2(TOMM40):c.437C>T (p.Ala146Val) | not specified [RCV004082949] | uncertain significance | 19 | 44893781 | 44893781 | Human | | name |
| 156088353 | CV2259043 | single nucleotide variant | NM_001128917.2(TOMM40):c.410G>A (p.Gly137Glu) | not specified [RCV004120307] | uncertain significance | 19 | 44892904 | 44892904 | Human | | name |
| 156140773 | CV2260373 | single nucleotide variant | NM_001128917.2(TOMM40):c.904G>A (p.Gly302Arg) | not specified [RCV004129448] | uncertain significance | 19 | 44901268 | 44901268 | Human | | name |
| 156338280 | CV2271249 | single nucleotide variant | NM_001128917.2(TOMM40):c.748C>G (p.Leu250Val) | not specified [RCV004136395] | uncertain significance | 19 | 44900834 | 44900834 | Human | | name |
| 156049291 | CV2304491 | single nucleotide variant | NM_001128917.2(TOMM40):c.959G>A (p.Ser320Asn) | not specified [RCV004164577] | uncertain significance | 19 | 44903042 | 44903042 | Human | | name |
| 156076393 | CV2375035 | single nucleotide variant | NM_001128917.2(TOMM40):c.607G>A (p.Val203Ile) | not specified [RCV004230086] | uncertain significance | 19 | 44894030 | 44894030 | Human | | name |
| 156389697 | CV2380748 | single nucleotide variant | NM_001128917.2(TOMM40):c.980C>T (p.Thr327Met) | not specified [RCV004218316] | uncertain significance | 19 | 44903063 | 44903063 | Human | | name |
| 401741410 | CV2680401 | single nucleotide variant | NM_001128917.2(TOMM40):c.652G>A (p.Val218Ile) | not specified [RCV004288646] | uncertain significance | 19 | 44900738 | 44900738 | Human | | name |
| 401856484 | CV2764816 | single nucleotide variant | NM_001128917.2(TOMM40):c.634G>A (p.Val212Met) | not specified [RCV004334919] | uncertain significance | 19 | 44894057 | 44894057 | Human | | name |
| 405757160 | CV3346901 | single nucleotide variant | NM_001128917.2(TOMM40):c.370A>G (p.Ile124Val) | not specified [RCV004468001] | uncertain significance | 19 | 44892864 | 44892864 | Human | | name |
| 407531592 | CV3486737 | single nucleotide variant | NM_001128917.2(TOMM40):c.430A>G (p.Thr144Ala) | not specified [RCV004682572] | uncertain significance | 19 | 44892924 | 44892924 | Human | | name |
| 597786637 | CV3614325 | single nucleotide variant | NM_001128917.2(TOMM40):c.628G>A (p.Val210Ile) | not specified [RCV004875395] | uncertain significance | 19 | 44894051 | 44894051 | Human | | name |
| 597786650 | CV3614328 | single nucleotide variant | NM_001128917.2(TOMM40):c.808A>C (p.Met270Leu) | not specified [RCV004875398] | uncertain significance | 19 | 44901069 | 44901069 | Human | | name |
| 598187912 | CV3928037 | single nucleotide variant | NM_001128917.2(TOMM40):c.508C>T (p.Pro170Ser) | not specified [RCV005287855] | uncertain significance | 19 | 44893852 | 44893852 | Human | | name |
| 405274037 | CV3211518 | single nucleotide variant | NM_032174.6(TOMM40L):c.*695C>A | TOMM40L-related disorder [RCV003951358] | likely benign | 1 | 161229790 | 161229790 | Human | | name , trait , alternate_id |
| 407531594 | CV3486738 | single nucleotide variant | NM_032174.6(TOMM40L):c.5G>T (p.Gly2Val) | not specified [RCV004682573] | uncertain significance | 1 | 161226494 | 161226494 | Human | | name |
| 597786655 | CV3614329 | single nucleotide variant | NM_032174.6(TOMM40L):c.66A>T (p.Glu22Asp) | not specified [RCV004875399] | uncertain significance | 1 | 161226555 | 161226555 | Human | | name |
| 156043613 | CV2342328 | single nucleotide variant | NM_032174.6(TOMM40L):c.253G>A (p.Asp85Asn) | not specified [RCV004191895] | uncertain significance | 1 | 161227327 | 161227327 | Human | | name |
| 156006379 | CV2357768 | single nucleotide variant | NM_032174.6(TOMM40L):c.181C>A (p.Gln61Lys) | not specified [RCV004205060] | uncertain significance | 1 | 161226953 | 161226953 | Human | | name |
| 155916698 | CV2197553 | single nucleotide variant | NM_032174.6(TOMM40L):c.919G>A (p.Val307Met) | not specified [RCV004081274] | uncertain significance | 1 | 161229087 | 161229087 | Human | | name |
| 155994931 | CV2286471 | single nucleotide variant | NM_032174.6(TOMM40L):c.336G>C (p.Leu112Phe) | not specified [RCV004139978] | uncertain significance | 1 | 161227695 | 161227695 | Human | | name |
| 156249163 | CV2358829 | single nucleotide variant | NM_032174.6(TOMM40L):c.887G>A (p.Arg296His) | not specified [RCV004212177] | uncertain significance | 1 | 161229055 | 161229055 | Human | | name |
| 329353433 | CV2469271 | single nucleotide variant | NM_032174.6(TOMM40L):c.524G>A (p.Arg175Gln) | not specified [RCV004280609] | uncertain significance | 1 | 161228225 | 161228225 | Human | | name |
| 401747893 | CV2698873 | single nucleotide variant | NM_032174.6(TOMM40L):c.473T>C (p.Ile158Thr) | not specified [RCV004301638] | uncertain significance | 1 | 161227978 | 161227978 | Human | | name |
| 401777794 | CV2704355 | single nucleotide variant | NM_032174.6(TOMM40L):c.805T>C (p.Trp269Arg) | not specified [RCV004311330] | uncertain significance | 1 | 161228973 | 161228973 | Human | | name |
| 401776178 | CV2706916 | single nucleotide variant | NM_032174.6(TOMM40L):c.304G>A (p.Asp102Asn) | not specified [RCV004321529] | uncertain significance | 1 | 161227663 | 161227663 | Human | | name |
| 401863071 | CV2765895 | single nucleotide variant | NM_032174.6(TOMM40L):c.785G>C (p.Arg262Thr) | not specified [RCV004337927] | uncertain significance | 1 | 161228815 | 161228815 | Human | | name |
| 405757173 | CV3346903 | single nucleotide variant | NM_032174.6(TOMM40L):c.325G>A (p.Ala109Thr) | not specified [RCV004468003] | uncertain significance | 1 | 161227684 | 161227684 | Human | | name |
| 407461091 | CV3486739 | single nucleotide variant | NM_032174.6(TOMM40L):c.731C>A (p.Thr244Lys) | not specified [RCV004687566] | uncertain significance | 1 | 161228761 | 161228761 | Human | | name |