| 405266579 | CV3213156 | single nucleotide variant | NM_018843.4(SLC25A40):c.810T>C (p.Tyr270=) | SLC25A40-related disorder [RCV003969309] | likely benign | 7 | 87841646 | 87841646 | Human | | name , trait , alternate_id |
| 407509354 | CV3474010 | single nucleotide variant | NM_018843.4(SLC25A40):c.65C>T (p.Ser22Leu) | not specified [RCV004672338] | uncertain significance | 7 | 87858663 | 87858663 | Human | | name |
| 407509357 | CV3474011 | single nucleotide variant | NM_018843.4(SLC25A40):c.76G>A (p.Ala26Thr) | not specified [RCV004672339] | uncertain significance | 7 | 87858652 | 87858652 | Human | | name |
| 598169090 | CV3918261 | single nucleotide variant | NM_018843.4(SLC25A40):c.61G>A (p.Ala21Thr) | not specified [RCV005284202] | uncertain significance | 7 | 87858667 | 87858667 | Human | | name |
| 156135663 | CV2256940 | single nucleotide variant | NM_018843.4(SLC25A40):c.254A>G (p.Gln85Arg) | not specified [RCV004121135] | uncertain significance | 7 | 87854214 | 87854214 | Human | | name |
| 401897229 | CV2789950 | single nucleotide variant | NM_018843.4(SLC25A40):c.179A>G (p.Asn60Ser) | not specified [RCV004362324] | uncertain significance | 7 | 87854289 | 87854289 | Human | | name |
| 405768476 | CV3321740 | single nucleotide variant | NM_018843.4(SLC25A40):c.212A>C (p.Glu71Ala) | not specified [RCV004456559] | uncertain significance | 7 | 87854256 | 87854256 | Human | | name |
| 405768482 | CV3321741 | single nucleotide variant | NM_018843.4(SLC25A40):c.215G>C (p.Gly72Ala) | not specified [RCV004456560] | uncertain significance | 7 | 87854253 | 87854253 | Human | | name |
| 156085926 | CV2249368 | single nucleotide variant | NM_018843.4(SLC25A40):c.673T>A (p.Cys225Ser) | not specified [RCV004118380] | uncertain significance | 7 | 87843822 | 87843822 | Human | | name |
| 156282242 | CV2317371 | single nucleotide variant | NM_018843.4(SLC25A40):c.715T>A (p.Phe239Ile) | not specified [RCV004172348] | uncertain significance | 7 | 87843780 | 87843780 | Human | | name |
| 156169283 | CV2400463 | single nucleotide variant | NM_018843.4(SLC25A40):c.839A>G (p.His280Arg) | not specified [RCV004246665] | uncertain significance | 7 | 87836795 | 87836795 | Human | | name |
| 329359205 | CV2435342 | single nucleotide variant | NM_018843.4(SLC25A40):c.757A>G (p.Thr253Ala) | not specified [RCV004253001] | uncertain significance | 7 | 87841699 | 87841699 | Human | | name |
| 401723205 | CV2674744 | single nucleotide variant | NM_018843.4(SLC25A40):c.529G>A (p.Val177Met) | not specified [RCV004294027] | likely benign | 7 | 87847051 | 87847051 | Human | | name |
| 401772194 | CV2687444 | single nucleotide variant | NM_018843.4(SLC25A40):c.505A>G (p.Met169Val) | not specified [RCV004300689] | uncertain significance | 7 | 87847075 | 87847075 | Human | | name |
| 401751872 | CV2727436 | single nucleotide variant | NM_018843.4(SLC25A40):c.654A>C (p.Glu218Asp) | not specified [RCV004327523] | uncertain significance | 7 | 87843841 | 87843841 | Human | | name |
| 401870643 | CV2769246 | single nucleotide variant | NM_018843.4(SLC25A40):c.805A>G (p.Thr269Ala) | not specified [RCV004357262] | uncertain significance | 7 | 87841651 | 87841651 | Human | | name |
| 401888375 | CV2788406 | single nucleotide variant | NM_018843.4(SLC25A40):c.536T>C (p.Leu179Pro) | not specified [RCV004354939] | uncertain significance | 7 | 87847044 | 87847044 | Human | | name |
| 401908815 | CV2825850 | single nucleotide variant | NM_018843.4(SLC25A40):c.368C>T (p.Thr123Ile) | SLC25A40-related disorder [RCV003980939]|not provided [RCV003423642] | benign|likely benign | 7 | 87847942 | 87847942 | Human | | name , trait , alternate_id |
| 405275506 | CV3204801 | single nucleotide variant | NM_018843.4(SLC25A40):c.314G>A (p.Ser105Asn) | SLC25A40-related disorder [RCV003952177] | likely benign | 7 | 87849899 | 87849899 | Human | | name , trait , alternate_id |
| 405289753 | CV3219776 | single nucleotide variant | NM_018843.4(SLC25A40):c.829A>G (p.Met277Val) | SLC25A40-related disorder [RCV003961982] | likely benign | 7 | 87836805 | 87836805 | Human | | name , trait , alternate_id |
| 405768488 | CV3321742 | single nucleotide variant | NM_018843.4(SLC25A40):c.544T>A (p.Phe182Ile) | not specified [RCV004456561] | uncertain significance | 7 | 87847036 | 87847036 | Human | | name |
| 405768500 | CV3321744 | single nucleotide variant | NM_018843.4(SLC25A40):c.665A>C (p.Lys222Thr) | not specified [RCV004456563] | uncertain significance | 7 | 87843830 | 87843830 | Human | | name |
| 405768506 | CV3321745 | single nucleotide variant | NM_018843.4(SLC25A40):c.748G>T (p.Ala250Ser) | not specified [RCV004456564] | uncertain significance | 7 | 87841708 | 87841708 | Human | | name |
| 405768511 | CV3321746 | single nucleotide variant | NM_018843.4(SLC25A40):c.859A>G (p.Met287Val) | not specified [RCV004456565] | uncertain significance | 7 | 87836775 | 87836775 | Human | | name |
| 405768518 | CV3321747 | single nucleotide variant | NM_018843.4(SLC25A40):c.973A>C (p.Lys325Gln) | not specified [RCV004456566] | uncertain significance | 7 | 87836293 | 87836293 | Human | | name |
| 597700628 | CV3606394 | single nucleotide variant | NM_018843.4(SLC25A40):c.935C>T (p.Pro312Leu) | not specified [RCV004859886] | uncertain significance | 7 | 87836331 | 87836331 | Human | | name |
| 597700636 | CV3606395 | single nucleotide variant | NM_018843.4(SLC25A40):c.644A>T (p.Tyr215Phe) | not specified [RCV004859887] | uncertain significance | 7 | 87843851 | 87843851 | Human | | name |
| 598200389 | CV3918260 | single nucleotide variant | NM_018843.4(SLC25A40):c.944C>G (p.Ala315Gly) | not specified [RCV005268535] | uncertain significance | 7 | 87836322 | 87836322 | Human | | name |