| 156218858 | CV2028799 | single nucleotide variant | NM_012318.3(LETM1):c.83-3C>T | not provided [RCV002712060] | uncertain significance | 4 | 1849212 | 1849212 | Human | | name |
| 152161908 | CV1584626 | single nucleotide variant | NM_012318.3(LETM1):c.82+12G>C | not provided [RCV002123354] | likely benign | 4 | 1855857 | 1855857 | Human | | name |
| 152112917 | CV1586508 | duplication | NM_012318.3(LETM1):c.83-15dup | not provided [RCV002197020] | benign | 4 | 1849223 | 1849224 | Human | | name |
| 152088302 | CV1626137 | single nucleotide variant | NM_012318.3(LETM1):c.83-16C>T | not provided [RCV002131729] | likely benign | 4 | 1849225 | 1849225 | Human | | name |
| 152111860 | CV1634994 | duplication | NM_012318.3(LETM1):c.144-9dup | not provided [RCV002096960] | likely benign | 4 | 1841805 | 1841806 | Human | | name |
| 152095622 | CV1653145 | duplication | NM_012318.3(LETM1):c.83-19dup | 4p partial monosomy syndrome [RCV002486858]|not provided [RCV002094795] | benign|likely benign | 4 | 1849227 | 1849228 | Human | 2 | name |
| 156413114 | CV1887670 | single nucleotide variant | NM_012318.3(LETM1):c.738+5G>A | not provided [RCV003073163] | uncertain significance | 4 | 1836424 | 1836424 | Human | | name |
| 597947222 | CV3758949 | single nucleotide variant | NM_012318.3(LETM1):c.83-13G>A | not provided [RCV005078745] | likely benign | 4 | 1849222 | 1849222 | Human | | name |
| 15103685 | CV775061 | single nucleotide variant | NM_012318.3(LETM1):c.877-5C>G | not provided [RCV000937243] | likely benign | 4 | 1832952 | 1832952 | Human | | name |
| 127305774 | CV1154714 | single nucleotide variant | NM_012318.3(LETM1):c.594+13T>C | not provided [RCV001516401] | benign | 4 | 1841334 | 1841334 | Human | | name |
| 150464560 | CV1276421 | single nucleotide variant | NM_012318.3(LETM1):c.595-10C>T | not provided [RCV001710366] | benign | 4 | 1836582 | 1836582 | Human | | name |
| 152153977 | CV1290510 | single nucleotide variant | NM_012318.3(LETM1):c.2071-9C>G | LETM1-associated clinical spectrum with predominant nervous system involvement [RCV002221684]|Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction [RCV002294482] | pathogenic | 4 | 1814582 | 1814582 | Human | 2 | name , trait |
| 151872655 | CV1351699 | single nucleotide variant | NM_012318.3(LETM1):c.1332+4C>T | not provided [RCV001998552] | uncertain significance | 4 | 1823640 | 1823640 | Human | | name |
| 151773545 | CV1402182 | single nucleotide variant | NM_012318.3(LETM1):c.1200+4C>T | not provided [RCV001929759] | uncertain significance | 4 | 1825560 | 1825560 | Human | | name |
| 151743186 | CV1404419 | single nucleotide variant | NM_012318.3(LETM1):c.2071-3T>C | not provided [RCV002022524] | uncertain significance | 4 | 1814576 | 1814576 | Human | | name |
| 151736558 | CV1507251 | single nucleotide variant | NM_012318.3(LETM1):c.1476+6C>T | not provided [RCV001984784] | uncertain significance | 4 | 1822982 | 1822982 | Human | | name |
| 152066730 | CV1647066 | single nucleotide variant | NM_012318.3(LETM1):c.738+15C>T | not provided [RCV002129076] | likely benign | 4 | 1836414 | 1836414 | Human | | name |
| 155715172 | CV1760411 | single nucleotide variant | NM_012318.3(LETM1):c.1333-1G>C | not provided [RCV002300918] | uncertain significance | 4 | 1823132 | 1823132 | Human | | name |
| 156387625 | CV1888175 | single nucleotide variant | NM_012318.3(LETM1):c.1332+5G>A | not provided [RCV003067693] | uncertain significance | 4 | 1823639 | 1823639 | Human | | name |
| 156130326 | CV1917852 | single nucleotide variant | NM_012318.3(LETM1):c.1931+9G>A | not provided [RCV002623286] | likely benign | 4 | 1816718 | 1816718 | Human | | name |
| 156232124 | CV1965731 | single nucleotide variant | NM_012318.3(LETM1):c.1333-9C>T | not provided [RCV002596848] | likely benign | 4 | 1823140 | 1823140 | Human | | name |
| 404985861 | CV2852369 | single nucleotide variant | NM_012318.3(LETM1):c.1743+4G>A | not specified [RCV003489607] | uncertain significance | 4 | 1819334 | 1819334 | Human | | name |
| 405181816 | CV3119999 | single nucleotide variant | NM_012318.3(LETM1):c.143+18A>C | not provided [RCV003820092] | likely benign | 4 | 1849131 | 1849131 | Human | | name |
| 405086676 | CV3122108 | duplication | NM_012318.3(LETM1):c.876+11dup | not provided [RCV003810863] | likely benign | 4 | 1834833 | 1834834 | Human | | name |
| 597884533 | CV3745065 | single nucleotide variant | NM_012318.3(LETM1):c.143+16T>G | not provided [RCV005070090] | likely benign | 4 | 1849133 | 1849133 | Human | | name |
| 597903751 | CV3846027 | single nucleotide variant | NM_012318.3(LETM1):c.1080+7C>T | not provided [RCV005181649] | benign | 4 | 1832737 | 1832737 | Human | | name |
| 597920710 | CV3852056 | single nucleotide variant | NM_012318.3(LETM1):c.1332+5G>T | not provided [RCV005205036] | uncertain significance | 4 | 1823639 | 1823639 | Human | | name |
| 15172818 | CV730275 | single nucleotide variant | NM_012318.3(LETM1):c.1476+7G>A | not provided [RCV000883916] | likely benign | 4 | 1822981 | 1822981 | Human | | name |
| 15190497 | CV743985 | single nucleotide variant | NM_012318.3(LETM1):c.1744-4T>C | not provided [RCV000909966] | likely benign | 4 | 1816918 | 1816918 | Human | | name |
| 15171631 | CV744096 | single nucleotide variant | NM_012318.3(LETM1):c.2070+9C>T | not provided [RCV000905506] | benign | 4 | 1815655 | 1815655 | Human | | name |
| 15125297 | CV759407 | single nucleotide variant | NM_012318.3(LETM1):c.1931+7G>C | not provided [RCV000919130] | likely benign | 4 | 1816720 | 1816720 | Human | | name |
| 15136422 | CV774935 | single nucleotide variant | NM_012318.3(LETM1):c.1608+8G>C | not provided [RCV000943075] | likely benign | 4 | 1822173 | 1822173 | Human | | name |
| 152045874 | CV1525775 | single nucleotide variant | NM_012318.3(LETM1):c.1333-19G>C | not provided [RCV002126644] | likely benign | 4 | 1823150 | 1823150 | Human | | name |
| 152123005 | CV1664390 | single nucleotide variant | NM_012318.3(LETM1):c.1200+17C>T | not provided [RCV002154501] | likely benign | 4 | 1825547 | 1825547 | Human | | name |
| 156128984 | CV1953118 | single nucleotide variant | NM_012318.3(LETM1):c.1932-19G>A | not provided [RCV002572156] | likely benign | 4 | 1815821 | 1815821 | Human | | name |
| 156109855 | CV1961384 | single nucleotide variant | NM_012318.3(LETM1):c.1080+13A>G | not provided [RCV002592732] | likely benign | 4 | 1832731 | 1832731 | Human | | name |
| 156406388 | CV1963603 | single nucleotide variant | NM_012318.3(LETM1):c.1931+20C>T | not provided [RCV002585893] | benign | 4 | 1816707 | 1816707 | Human | | name |
| 156381366 | CV1964311 | single nucleotide variant | NM_012318.3(LETM1):c.1476+20C>T | not provided [RCV002583190] | likely benign | 4 | 1822968 | 1822968 | Human | | name |
| 156118526 | CV1982631 | single nucleotide variant | NM_012318.3(LETM1):c.1333-12C>A | not provided [RCV002622854] | likely benign | 4 | 1823143 | 1823143 | Human | | name |
| 156250697 | CV1984733 | single nucleotide variant | NM_012318.3(LETM1):c.1332+18C>T | not provided [RCV002645887] | likely benign | 4 | 1823626 | 1823626 | Human | | name |
| 156363665 | CV2016881 | single nucleotide variant | NM_012318.3(LETM1):c.1744-18C>G | not provided [RCV002721039] | likely benign | 4 | 1816932 | 1816932 | Human | | name |
| 155989771 | CV2026882 | single nucleotide variant | NM_012318.3(LETM1):c.1477-15C>T | not provided [RCV002755699] | likely benign | 4 | 1822327 | 1822327 | Human | | name |
| 156227455 | CV2064420 | single nucleotide variant | NM_012318.3(LETM1):c.2071-15T>C | not provided [RCV002829922] | likely benign | 4 | 1814588 | 1814588 | Human | | name |
| 156240245 | CV2152397 | single nucleotide variant | NM_012318.3(LETM1):c.1201-17C>T | not provided [RCV003008074] | likely benign | 4 | 1823792 | 1823792 | Human | | name |
| 402474885 | CV3182831 | single nucleotide variant | NM_012318.3(LETM1):c.1931+19G>A | not provided [RCV003875075] | likely benign | 4 | 1816708 | 1816708 | Human | | name |
| 597845955 | CV3761637 | single nucleotide variant | NM_012318.3(LETM1):c.1931+14T>G | not provided [RCV005087237] | likely benign | 4 | 1816713 | 1816713 | Human | | name |
| 597912725 | CV3817320 | single nucleotide variant | NM_012318.3(LETM1):c.1744-13A>G | not provided [RCV005154522] | likely benign | 4 | 1816927 | 1816927 | Human | | name |
| 151721064 | CV1506845 | single nucleotide variant | NM_012318.3(LETM1):c.8C>T (p.Ser3Phe) | Inborn genetic diseases [RCV002555708]|not provided [RCV001909733] | uncertain significance | 4 | 1855943 | 1855943 | Human | 1 | name |
| 152072169 | CV1643686 | single nucleotide variant | NM_012318.3(LETM1):c.51C>T (p.Leu17=) | not provided [RCV002111604] | likely benign | 4 | 1855900 | 1855900 | Human | | name |
| 15156797 | CV709269 | single nucleotide variant | NM_012318.3(LETM1):c.81G>A (p.Arg27=) | not provided [RCV000969182] | benign | 4 | 1855870 | 1855870 | Human | | name |
| 152130409 | CV1523385 | single nucleotide variant | NM_012318.3(LETM1):c.12C>G (p.Ile4Met) | not provided [RCV002136850] | benign | 4 | 1855939 | 1855939 | Human | | name |
| 152047286 | CV1561576 | single nucleotide variant | NM_012318.3(LETM1):c.258G>A (p.Ala86=) | not provided [RCV002108494] | likely benign | 4 | 1841683 | 1841683 | Human | | name |
| 156349213 | CV1954972 | single nucleotide variant | NM_012318.3(LETM1):c.228G>A (p.Arg76=) | not provided [RCV002580936] | likely benign | 4 | 1841713 | 1841713 | Human | | name |
| 156082317 | CV1982901 | single nucleotide variant | NM_012318.3(LETM1):c.210C>T (p.Leu70=) | not provided [RCV002638939] | likely benign | 4 | 1841731 | 1841731 | Human | | name |
| 597861514 | CV3822520 | single nucleotide variant | NM_012318.3(LETM1):c.165C>T (p.Cys55=) | not provided [RCV005175050] | likely benign | 4 | 1841776 | 1841776 | Human | | name |
| 597962320 | CV3840982 | single nucleotide variant | NM_012318.3(LETM1):c.279G>A (p.Val93=) | not provided [RCV005193275] | likely benign | 4 | 1841662 | 1841662 | Human | | name |
| 15122397 | CV744143 | deletion | NM_012318.3(LETM1):c.1200+9_1200+33del | not provided [RCV000896234] | likely benign | 4 | 1825531 | 1825555 | Human | | name |
| 15144884 | CV764405 | single nucleotide variant | NM_012318.3(LETM1):c.282T>C (p.Gly94=) | not provided [RCV000944487] | likely benign | 4 | 1841659 | 1841659 | Human | | name |
| 127296059 | CV1154712 | single nucleotide variant | NM_012318.3(LETM1):c.885A>G (p.Glu295=) | not provided [RCV001512410] | benign | 4 | 1832939 | 1832939 | Human | | name |
| 127291134 | CV1154718 | single nucleotide variant | NM_012318.3(LETM1):c.40C>T (p.Pro14Ser) | not provided [RCV001510223] | benign | 4 | 1855911 | 1855911 | Human | | name |
| 151773725 | CV1430627 | single nucleotide variant | NM_012318.3(LETM1):c.354G>A (p.Ser118=) | not provided [RCV001864317] | likely benign|uncertain significance | 4 | 1841587 | 1841587 | Human | | name |
| 151718459 | CV1506667 | single nucleotide variant | NM_012318.3(LETM1):c.41C>T (p.Pro14Leu) | Inborn genetic diseases [RCV002555701]|not provided [RCV001909348] | uncertain significance | 4 | 1855910 | 1855910 | Human | 1 | name |
| 152159542 | CV1588133 | single nucleotide variant | NM_012318.3(LETM1):c.999G>A (p.Leu333=) | not provided [RCV002180689] | likely benign | 4 | 1832825 | 1832825 | Human | | name |
| 152076794 | CV1607044 | single nucleotide variant | NM_012318.3(LETM1):c.333G>A (p.Ser111=) | not provided [RCV002130329] | likely benign | 4 | 1841608 | 1841608 | Human | | name |
| 152117934 | CV1658956 | single nucleotide variant | NM_012318.3(LETM1):c.711A>G (p.Pro237=) | not provided [RCV002175185] | likely benign | 4 | 1836456 | 1836456 | Human | | name |
| 156285496 | CV1900489 | single nucleotide variant | NM_012318.3(LETM1):c.972G>A (p.Pro324=) | not provided [RCV002598542] | likely benign | 4 | 1832852 | 1832852 | Human | | name |
| 155940966 | CV1901989 | single nucleotide variant | NM_012318.3(LETM1):c.777G>A (p.Glu259=) | not provided [RCV003073534] | likely benign | 4 | 1834944 | 1834944 | Human | | name |
| 156157973 | CV1906681 | single nucleotide variant | NM_012318.3(LETM1):c.426C>T (p.Ser142=) | not provided [RCV003082779] | likely benign | 4 | 1841515 | 1841515 | Human | | name |
| 156444937 | CV1948987 | single nucleotide variant | NM_012318.3(LETM1):c.657G>A (p.Pro219=) | not provided [RCV003115871] | likely benign | 4 | 1836510 | 1836510 | Human | | name |
| 156244035 | CV1991567 | single nucleotide variant | NM_012318.3(LETM1):c.68A>T (p.Tyr23Phe) | not provided [RCV002645674] | uncertain significance | 4 | 1855883 | 1855883 | Human | | name |
| 156210821 | CV2000960 | single nucleotide variant | NM_012318.3(LETM1):c.94G>T (p.Asp32Tyr) | Inborn genetic diseases [RCV002666840]|not provided [RCV002666839] | uncertain significance | 4 | 1849198 | 1849198 | Human | 1 | name |
| 156318310 | CV2018159 | single nucleotide variant | NM_012318.3(LETM1):c.732A>C (p.Ser244=) | not provided [RCV002672033] | likely benign | 4 | 1836435 | 1836435 | Human | | name |
| 156081929 | CV2022927 | single nucleotide variant | NM_012318.3(LETM1):c.423C>T (p.Tyr141=) | not provided [RCV002760653] | likely benign | 4 | 1841518 | 1841518 | Human | | name |
| 156301893 | CV2150001 | single nucleotide variant | NM_012318.3(LETM1):c.588C>T (p.Arg196=) | not provided [RCV003028134] | uncertain significance | 4 | 1841353 | 1841353 | Human | | name |
| 156366798 | CV2177118 | single nucleotide variant | NM_012318.3(LETM1):c.351C>T (p.Asp117=) | not provided [RCV003049403] | likely benign | 4 | 1841590 | 1841590 | Human | | name |
| 401779575 | CV2718628 | single nucleotide variant | NM_012318.3(LETM1):c.65G>C (p.Arg22Pro) | Inborn genetic diseases [RCV003287613] | uncertain significance | 4 | 1855886 | 1855886 | Human | 1 | name |
| 405116969 | CV2992902 | single nucleotide variant | NM_012318.3(LETM1):c.525C>G (p.Thr175=) | not provided [RCV003723465] | likely benign | 4 | 1841416 | 1841416 | Human | | name |
| 402481124 | CV3041523 | single nucleotide variant | NM_012318.3(LETM1):c.414C>G (p.Gly138=) | not provided [RCV003712833] | likely benign | 4 | 1841527 | 1841527 | Human | | name |
| 405179652 | CV3060480 | single nucleotide variant | NM_012318.3(LETM1):c.933A>G (p.Leu311=) | not provided [RCV003728653] | likely benign | 4 | 1832891 | 1832891 | Human | | name |
| 405223292 | CV3061250 | single nucleotide variant | NM_012318.3(LETM1):c.417G>A (p.Pro139=) | not provided [RCV003733643] | likely benign | 4 | 1841524 | 1841524 | Human | | name |
| 598126516 | CV3881965 | single nucleotide variant | NM_012318.3(LETM1):c.465G>A (p.Gln155=) | not provided [RCV005233517] | uncertain significance | 4 | 1841476 | 1841476 | Human | | name |
| 15182323 | CV709253 | single nucleotide variant | NM_012318.3(LETM1):c.834C>A (p.Ala278=) | not provided [RCV000974604] | benign | 4 | 1834887 | 1834887 | Human | | name |
| 15182328 | CV709254 | single nucleotide variant | NM_012318.3(LETM1):c.618C>A (p.Leu206=) | not provided [RCV000974605] | benign | 4 | 1836549 | 1836549 | Human | | name |
| 15151662 | CV720865 | single nucleotide variant | NM_012318.3(LETM1):c.432C>G (p.Pro144=) | not provided [RCV000879644] | likely benign | 4 | 1841509 | 1841509 | Human | | name |
| 15183370 | CV734540 | single nucleotide variant | NM_012318.3(LETM1):c.855C>T (p.Asp285=) | not provided [RCV000908044] | likely benign | 4 | 1834866 | 1834866 | Human | | name |
| 15149728 | CV734541 | single nucleotide variant | NM_012318.3(LETM1):c.804C>T (p.Ile268=) | not provided [RCV000900997] | likely benign | 4 | 1834917 | 1834917 | Human | | name |
| 15171642 | CV734542 | single nucleotide variant | NM_012318.3(LETM1):c.696C>T (p.Phe232=) | not provided [RCV000905508] | benign | 4 | 1836471 | 1836471 | Human | | name |
| 15143835 | CV734552 | single nucleotide variant | NM_012318.3(LETM1):c.477C>T (p.Asp159=) | not provided [RCV000899903] | likely benign | 4 | 1841464 | 1841464 | Human | | name |
| 15112032 | CV748837 | single nucleotide variant | NM_012318.3(LETM1):c.843C>T (p.Ser281=) | not provided [RCV000916842] | likely benign | 4 | 1834878 | 1834878 | Human | | name |
| 15126720 | CV748843 | single nucleotide variant | NM_012318.3(LETM1):c.486G>A (p.Lys162=) | not provided [RCV000919376] | likely benign | 4 | 1841455 | 1841455 | Human | | name |
| 15114697 | CV748844 | single nucleotide variant | NM_012318.3(LETM1):c.441G>C (p.Val147=) | not provided [RCV000917324] | likely benign | 4 | 1841500 | 1841500 | Human | | name |
| 15165862 | CV748845 | single nucleotide variant | NM_012318.3(LETM1):c.432C>T (p.Pro144=) | not provided [RCV000926731] | likely benign | 4 | 1841509 | 1841509 | Human | | name |
| 15193948 | CV764400 | single nucleotide variant | NM_012318.3(LETM1):c.888A>G (p.Thr296=) | not provided [RCV000933503] | likely benign | 4 | 1832936 | 1832936 | Human | | name |
| 15112263 | CV764408 | single nucleotide variant | NM_012318.3(LETM1):c.53C>G (p.Pro18Arg) | Inborn genetic diseases [RCV003353094]|not provided [RCV000938911] | likely benign|uncertain significance | 4 | 1855898 | 1855898 | Human | 1 | name |
| 15109902 | CV781910 | single nucleotide variant | NM_012318.3(LETM1):c.948G>A (p.Leu316=) | not provided [RCV000977330] | likely benign | 4 | 1832876 | 1832876 | Human | | name |
| 15102420 | CV781914 | single nucleotide variant | NM_012318.3(LETM1):c.411C>T (p.Gly137=) | not provided [RCV000975792] | likely benign | 4 | 1841530 | 1841530 | Human | | name |
| 127267247 | CV1071549 | single nucleotide variant | NM_012318.3(LETM1):c.1500G>C (p.Val500=) | not provided [RCV001404041] | likely benign | 4 | 1822289 | 1822289 | Human | | name |
| 127303207 | CV1154710 | single nucleotide variant | NM_012318.3(LETM1):c.1791G>A (p.Lys597=) | not provided [RCV001515397] | benign | 4 | 1816867 | 1816867 | Human | | name |
| 151815864 | CV1389315 | single nucleotide variant | NM_012318.3(LETM1):c.1350G>A (p.Val450=) | not provided [RCV002012900] | likely benign | 4 | 1823114 | 1823114 | Human | | name |
| 151816807 | CV1456766 | single nucleotide variant | NM_012318.3(LETM1):c.289G>A (p.Ala97Thr) | not provided [RCV001900494] | uncertain significance | 4 | 1841652 | 1841652 | Human | | name |
| 151732032 | CV1512225 | single nucleotide variant | NM_012318.3(LETM1):c.1740C>T (p.Ser580=) | LETM1-related disorder [RCV003923410]|not provided [RCV002021400] | likely benign|uncertain significance | 4 | 1819341 | 1819341 | Human | 1 | name , trait , alternate_id |
| 152043155 | CV1522349 | single nucleotide variant | NM_012318.3(LETM1):c.2163G>A (p.Glu721=) | not provided [RCV002088223] | likely benign | 4 | 1814481 | 1814481 | Human | | name |
| 152088922 | CV1541463 | single nucleotide variant | NM_012318.3(LETM1):c.1992C>T (p.Pro664=) | not provided [RCV002171569] | likely benign | 4 | 1815742 | 1815742 | Human | | name |
| 152041551 | CV1555933 | single nucleotide variant | NM_012318.3(LETM1):c.1956G>A (p.Glu652=) | not provided [RCV002188330] | likely benign | 4 | 1815778 | 1815778 | Human | | name |
| 152068924 | CV1589110 | single nucleotide variant | NM_012318.3(LETM1):c.1359C>T (p.Ala453=) | not provided [RCV002209724] | likely benign | 4 | 1823105 | 1823105 | Human | | name |
| 152067354 | CV1600122 | single nucleotide variant | NM_012318.3(LETM1):c.1635C>T (p.Ile545=) | not provided [RCV002110966] | likely benign | 4 | 1819446 | 1819446 | Human | | name |
| 152106732 | CV1612878 | single nucleotide variant | NM_012318.3(LETM1):c.1290C>T (p.Ala430=) | not provided [RCV002173812] | likely benign | 4 | 1823686 | 1823686 | Human | | name |
| 152135162 | CV1613495 | single nucleotide variant | NM_012318.3(LETM1):c.1051C>A (p.Arg351=) | not provided [RCV002156042] | likely benign | 4 | 1832773 | 1832773 | Human | | name |
| 152125543 | CV1640637 | single nucleotide variant | NM_012318.3(LETM1):c.1728G>T (p.Val576=) | not provided [RCV002176131] | likely benign | 4 | 1819353 | 1819353 | Human | | name |
| 152165436 | CV1649231 | single nucleotide variant | NM_012318.3(LETM1):c.1003C>T (p.Leu335=) | not provided [RCV002204244] | likely benign | 4 | 1832821 | 1832821 | Human | | name |
| 152065455 | CV1654544 | single nucleotide variant | NM_012318.3(LETM1):c.251C>G (p.Ser84Trp) | not provided [RCV002191097] | likely benign | 4 | 1841690 | 1841690 | Human | | name |
| 156376532 | CV1869003 | single nucleotide variant | NM_012318.3(LETM1):c.211G>A (p.Gly71Ser) | not provided [RCV003066779] | conflicting interpretations of pathogenicity|uncertain significance | 4 | 1841730 | 1841730 | Human | | name |
| 156086166 | CV1898979 | single nucleotide variant | NM_012318.3(LETM1):c.1476G>A (p.Ala492=) | not provided [RCV003080045] | uncertain significance | 4 | 1822988 | 1822988 | Human | | name |
| 156369659 | CV1905104 | single nucleotide variant | NM_012318.3(LETM1):c.1950C>T (p.Val650=) | not provided [RCV002582327] | likely benign | 4 | 1815784 | 1815784 | Human | | name |
| 156258965 | CV1906411 | single nucleotide variant | NM_012318.3(LETM1):c.1590G>A (p.Pro530=) | not provided [RCV003086370] | likely benign | 4 | 1822199 | 1822199 | Human | | name |
| 155940748 | CV1913754 | single nucleotide variant | NM_012318.3(LETM1):c.1293C>T (p.Asp431=) | not provided [RCV002615617] | likely benign | 4 | 1823683 | 1823683 | Human | | name |
| 156357552 | CV1913946 | single nucleotide variant | NM_012318.3(LETM1):c.1182G>A (p.Leu394=) | not provided [RCV002632444] | likely benign | 4 | 1825582 | 1825582 | Human | | name |
| 156404980 | CV1916819 | single nucleotide variant | NM_012318.3(LETM1):c.1173A>G (p.Glu391=) | not provided [RCV002606224] | likely benign | 4 | 1825591 | 1825591 | Human | | name |
| 156299622 | CV1919883 | single nucleotide variant | NM_012318.3(LETM1):c.1110G>C (p.Leu370=) | not provided [RCV002599104] | likely benign | 4 | 1825654 | 1825654 | Human | | name |
| 156034363 | CV1921287 | single nucleotide variant | NM_012318.3(LETM1):c.1164C>T (p.Gly388=) | not provided [RCV002619989] | likely benign | 4 | 1825600 | 1825600 | Human | | name |
| 156325064 | CV1980498 | single nucleotide variant | NM_012318.3(LETM1):c.1974G>A (p.Lys658=) | not provided [RCV002630604] | likely benign | 4 | 1815760 | 1815760 | Human | | name |
| 156384702 | CV1989834 | single nucleotide variant | NM_012318.3(LETM1):c.1822T>C (p.Leu608=) | not provided [RCV002634532] | likely benign | 4 | 1816836 | 1816836 | Human | | name |
| 156405253 | CV1994310 | single nucleotide variant | NM_012318.3(LETM1):c.232G>A (p.Glu78Lys) | not provided [RCV002658261] | uncertain significance | 4 | 1841709 | 1841709 | Human | | name |
| 156115342 | CV1995419 | single nucleotide variant | NM_012318.3(LETM1):c.205C>T (p.His69Tyr) | not provided [RCV002640100] | uncertain significance | 4 | 1841736 | 1841736 | Human | | name |
| 156098914 | CV2004816 | single nucleotide variant | NM_012318.3(LETM1):c.1833G>A (p.Arg611=) | not provided [RCV002639506] | likely benign | 4 | 1816825 | 1816825 | Human | | name |
| 156176468 | CV2034550 | single nucleotide variant | NM_012318.3(LETM1):c.1422G>A (p.Ala474=) | not provided [RCV002742031] | likely benign | 4 | 1823042 | 1823042 | Human | | name |
| 155947135 | CV2068881 | single nucleotide variant | NM_012318.3(LETM1):c.2202C>A (p.Val734=) | not provided [RCV002862139] | likely benign | 4 | 1814442 | 1814442 | Human | | name |
| 401761050 | CV2706197 | single nucleotide variant | NM_012318.3(LETM1):c.260C>G (p.Pro87Arg) | Inborn genetic diseases [RCV003257425] | uncertain significance | 4 | 1841681 | 1841681 | Human | 1 | name |
| 401778149 | CV2718521 | single nucleotide variant | NM_012318.3(LETM1):c.257C>G (p.Ala86Gly) | Inborn genetic diseases [RCV003263768] | uncertain significance | 4 | 1841684 | 1841684 | Human | 1 | name |
| 401923270 | CV2822344 | single nucleotide variant | NM_012318.3(LETM1):c.1864T>C (p.Leu622=) | not provided [RCV003434939] | likely benign | 4 | 1816794 | 1816794 | Human | | name |
| 405082272 | CV2864924 | single nucleotide variant | NM_012318.3(LETM1):c.118A>T (p.Ser40Cys) | not provided [RCV003549322] | uncertain significance | 4 | 1849174 | 1849174 | Human | | name |
| 405228066 | CV2980634 | single nucleotide variant | NM_012318.3(LETM1):c.1230C>A (p.Ile410=) | not provided [RCV003711048] | likely benign | 4 | 1823746 | 1823746 | Human | | name |
| 405250635 | CV3053020 | single nucleotide variant | NM_012318.3(LETM1):c.1962C>A (p.Ile654=) | not provided [RCV003721676] | likely benign | 4 | 1815772 | 1815772 | Human | | name |
| 405152412 | CV3063772 | single nucleotide variant | NM_012318.3(LETM1):c.1623G>A (p.Thr541=) | not provided [RCV003726434] | likely benign | 4 | 1819458 | 1819458 | Human | | name |
| 405112588 | CV3133529 | single nucleotide variant | NM_012318.3(LETM1):c.1134G>A (p.Ala378=) | not provided [RCV003836322] | likely benign | 4 | 1825630 | 1825630 | Human | | name |
| 404986348 | CV3135441 | single nucleotide variant | NM_012318.3(LETM1):c.1245C>T (p.Leu415=) | not provided [RCV003826736] | likely benign | 4 | 1823731 | 1823731 | Human | | name |
| 405817768 | CV3280271 | single nucleotide variant | NM_012318.3(LETM1):c.233A>G (p.Glu78Gly) | Inborn genetic diseases [RCV004412778] | uncertain significance | 4 | 1841708 | 1841708 | Human | 1 | name |
| 407491992 | CV3452723 | single nucleotide variant | NM_012318.3(LETM1):c.257C>A (p.Ala86Glu) | Inborn genetic diseases [RCV004642363] | uncertain significance | 4 | 1841684 | 1841684 | Human | 1 | name |
| 597696728 | CV3696049 | single nucleotide variant | NM_012318.3(LETM1):c.196A>G (p.Arg66Gly) | Inborn genetic diseases [RCV004986549] | likely benign | 4 | 1841745 | 1841745 | Human | 1 | name |
| 597696746 | CV3696052 | single nucleotide variant | NM_012318.3(LETM1):c.271A>G (p.Thr91Ala) | Inborn genetic diseases [RCV004986552] | likely benign | 4 | 1841670 | 1841670 | Human | 1 | name |
| 597871530 | CV3749894 | single nucleotide variant | NM_012318.3(LETM1):c.2202C>T (p.Val734=) | not provided [RCV005068575] | likely benign | 4 | 1814442 | 1814442 | Human | | name |
| 597849839 | CV3761725 | single nucleotide variant | NM_012318.3(LETM1):c.1272G>A (p.Pro424=) | not provided [RCV005087821] | likely benign | 4 | 1823704 | 1823704 | Human | | name |
| 598236658 | CV3984423 | single nucleotide variant | NM_012318.3(LETM1):c.251C>T (p.Ser84Leu) | Inborn genetic diseases [RCV005363911] | likely benign | 4 | 1841690 | 1841690 | Human | 1 | name |
| 13506444 | CV480807 | single nucleotide variant | NM_012318.3(LETM1):c.286G>A (p.Val96Met) | Ependymoma [RCV000577863] | uncertain significance | 4 | 1841655 | 1841655 | Human | 2 | name |
| 15113532 | CV709246 | single nucleotide variant | NM_012318.3(LETM1):c.1764G>A (p.Lys588=) | not provided [RCV000961509] | benign | 4 | 1816894 | 1816894 | Human | | name |
| 15133471 | CV709258 | single nucleotide variant | NM_012318.3(LETM1):c.148G>A (p.Val50Ile) | not provided [RCV000964956] | benign | 4 | 1841793 | 1841793 | Human | | name |
| 15163543 | CV720852 | single nucleotide variant | NM_012318.3(LETM1):c.1911G>A (p.Pro637=) | not provided [RCV000881993] | benign | 4 | 1816747 | 1816747 | Human | | name |
| 15103869 | CV720859 | single nucleotide variant | NM_012318.3(LETM1):c.1044T>C (p.Leu348=) | not provided [RCV000892766] | likely benign | 4 | 1832780 | 1832780 | Human | | name |
| 15110191 | CV720866 | single nucleotide variant | NM_012318.3(LETM1):c.244A>G (p.Ile82Val) | not provided [RCV000894012] | benign | 4 | 1841697 | 1841697 | Human | | name |
| 15185513 | CV734527 | single nucleotide variant | NM_012318.3(LETM1):c.2127G>A (p.Glu709=) | not provided [RCV000908551] | likely benign | 4 | 1814517 | 1814517 | Human | | name |
| 15171638 | CV734528 | single nucleotide variant | NM_012318.3(LETM1):c.1467G>A (p.Ser489=) | not provided [RCV000905507] | likely benign | 4 | 1822997 | 1822997 | Human | | name |
| 15126842 | CV734529 | single nucleotide variant | NM_012318.3(LETM1):c.1407G>A (p.Thr469=) | not provided [RCV000897000] | likely benign | 4 | 1823057 | 1823057 | Human | | name |
| 15122010 | CV748825 | single nucleotide variant | NM_012318.3(LETM1):c.1938C>T (p.Asn646=) | Inborn genetic diseases [RCV004986693]|not provided [RCV000918578] | likely benign | 4 | 1815796 | 1815796 | Human | 1 | name |
| 15201428 | CV748826 | single nucleotide variant | NM_012318.3(LETM1):c.1917C>T (p.Asn639=) | not provided [RCV000913136] | likely benign | 4 | 1816741 | 1816741 | Human | | name |
| 15112596 | CV748827 | single nucleotide variant | NM_012318.3(LETM1):c.1647C>T (p.Ser549=) | not provided [RCV000916941] | likely benign | 4 | 1819434 | 1819434 | Human | | name |
| 15105102 | CV764394 | single nucleotide variant | NM_012318.3(LETM1):c.2139A>G (p.Thr713=) | not provided [RCV000937519] | likely benign | 4 | 1814505 | 1814505 | Human | | name |
| 15127763 | CV764395 | single nucleotide variant | NM_012318.3(LETM1):c.1521G>A (p.Pro507=) | not provided [RCV000941599] | likely benign | 4 | 1822268 | 1822268 | Human | | name |
| 15139587 | CV781908 | single nucleotide variant | NM_012318.3(LETM1):c.1527C>T (p.Thr509=) | not provided [RCV000982665] | likely benign | 4 | 1822262 | 1822262 | Human | | name |
| 15104054 | CV781909 | single nucleotide variant | NM_012318.3(LETM1):c.1029C>T (p.Phe343=) | not provided [RCV000976141] | likely benign | 4 | 1832795 | 1832795 | Human | | name |
| 127290171 | CV1154715 | single nucleotide variant | NM_012318.3(LETM1):c.344G>A (p.Arg115His) | not provided [RCV001509691] | benign | 4 | 1841597 | 1841597 | Human | | name |
| 127318705 | CV1154716 | single nucleotide variant | NM_012318.3(LETM1):c.326A>G (p.His109Arg) | 4p partial monosomy syndrome [RCV002506630]|not provided [RCV001521786] | benign | 4 | 1841615 | 1841615 | Human | 2 | name |
| 152153968 | CV1290501 | single nucleotide variant | NM_012318.3(LETM1):c.878T>A (p.Ile293Asn) | LETM1-associated clinical spectrum with predominant nervous system involvement [RCV002221675]|Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction [RCV002294478] | pathogenic | 4 | 1832946 | 1832946 | Human | 2 | name , trait |
| 152153969 | CV1290502 | single nucleotide variant | NM_012318.3(LETM1):c.898C>T (p.Pro300Ser) | LETM1-associated clinical spectrum with predominant nervous system involvement [RCV002221676]|not provided [RCV003128786] | pathogenic|likely pathogenic | 4 | 1832926 | 1832926 | Human | 1 | name , trait |
| 152153970 | CV1290503 | deletion | NM_012318.3(LETM1):c.2094del (p.Asp699fs) | LETM1-associated clinical spectrum with predominant nervous system involvement [RCV002221677]|Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction [RCV002294479] | pathogenic | 4 | 1814550 | 1814550 | Human | 2 | name , trait |
| 152153973 | CV1290506 | single nucleotide variant | NM_012318.3(LETM1):c.881G>A (p.Arg294Gln) | LETM1-associated clinical spectrum with predominant nervous system involvement [RCV002221680]|Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction [RCV002294481] | pathogenic | 4 | 1832943 | 1832943 | Human | 2 | name , trait |
| 151716772 | CV1346146 | single nucleotide variant | NM_012318.3(LETM1):c.958A>G (p.Asn320Asp) | not provided [RCV001965347] | uncertain significance | 4 | 1832866 | 1832866 | Human | | name |
| 151748528 | CV1353230 | single nucleotide variant | NM_012318.3(LETM1):c.919C>T (p.Arg307Cys) | not provided [RCV001912728] | uncertain significance | 4 | 1832905 | 1832905 | Human | | name |
| 151864442 | CV1361225 | deletion | NM_012318.3(LETM1):c.1834del (p.Val612fs) | not provided [RCV001905720] | uncertain significance | 4 | 1816824 | 1816824 | Human | | name |
| 151710398 | CV1372401 | single nucleotide variant | NM_012318.3(LETM1):c.533C>T (p.Ala178Val) | Inborn genetic diseases [RCV002569305]|not provided [RCV001964176] | uncertain significance | 4 | 1841408 | 1841408 | Human | 1 | name |
| 151831232 | CV1384569 | single nucleotide variant | NM_012318.3(LETM1):c.340G>C (p.Val114Leu) | not provided [RCV001955701] | uncertain significance | 4 | 1841601 | 1841601 | Human | | name |
| 151740514 | CV1386510 | single nucleotide variant | NM_012318.3(LETM1):c.427C>A (p.Pro143Thr) | not provided [RCV001893223] | uncertain significance | 4 | 1841514 | 1841514 | Human | | name |
| 151870789 | CV1413377 | single nucleotide variant | NM_012318.3(LETM1):c.616C>G (p.Leu206Val) | not provided [RCV001998305] | uncertain significance | 4 | 1836551 | 1836551 | Human | | name |
| 151833179 | CV1439317 | single nucleotide variant | NM_012318.3(LETM1):c.806A>G (p.Glu269Gly) | not provided [RCV001976849] | uncertain significance | 4 | 1834915 | 1834915 | Human | | name |
| 151712705 | CV1440933 | single nucleotide variant | NM_012318.3(LETM1):c.317G>A (p.Arg106His) | Inborn genetic diseases [RCV002560551]|not provided [RCV001964605] | uncertain significance | 4 | 1841624 | 1841624 | Human | 1 | name |
| 151801937 | CV1458768 | single nucleotide variant | NM_012318.3(LETM1):c.756G>T (p.Lys252Asn) | not provided [RCV002028177] | uncertain significance | 4 | 1834965 | 1834965 | Human | | name |
| 151814696 | CV1485503 | single nucleotide variant | NM_012318.3(LETM1):c.303G>C (p.Gln101His) | not provided [RCV002029313] | uncertain significance | 4 | 1841638 | 1841638 | Human | | name |
| 151838660 | CV1501426 | single nucleotide variant | NM_012318.3(LETM1):c.550C>T (p.Arg184Cys) | not provided [RCV001977425] | uncertain significance | 4 | 1841391 | 1841391 | Human | | name |
| 151816076 | CV1508260 | single nucleotide variant | NM_012318.3(LETM1):c.358G>A (p.Val120Ile) | not provided [RCV001975265] | uncertain significance | 4 | 1841583 | 1841583 | Human | | name |
| 155740427 | CV1779653 | single nucleotide variant | NM_012318.3(LETM1):c.583G>A (p.Glu195Lys) | not provided [RCV002302280] | uncertain significance | 4 | 1841358 | 1841358 | Human | | name |
| 156321755 | CV1873205 | single nucleotide variant | NM_012318.3(LETM1):c.467G>A (p.Arg156Gln) | not provided [RCV003063117] | uncertain significance | 4 | 1841474 | 1841474 | Human | | name |
| 156368501 | CV1904941 | single nucleotide variant | NM_012318.3(LETM1):c.506G>A (p.Arg169His) | not provided [RCV002582245] | uncertain significance | 4 | 1841435 | 1841435 | Human | | name |
| 156099346 | CV1920633 | single nucleotide variant | NM_012318.3(LETM1):c.968G>A (p.Arg323Gln) | Inborn genetic diseases [RCV003349044]|not provided [RCV002592216] | uncertain significance | 4 | 1832856 | 1832856 | Human | 1 | name |
| 156414797 | CV1954981 | single nucleotide variant | NM_012318.3(LETM1):c.691C>G (p.Leu231Val) | not provided [RCV002588813] | uncertain significance | 4 | 1836476 | 1836476 | Human | | name |
| 156390179 | CV1980262 | single nucleotide variant | NM_012318.3(LETM1):c.577C>T (p.Arg193Cys) | not provided [RCV002634912] | uncertain significance | 4 | 1841364 | 1841364 | Human | | name |
| 156120492 | CV2013755 | single nucleotide variant | NM_012318.3(LETM1):c.304T>G (p.Cys102Gly) | not provided [RCV002740178] | uncertain significance | 4 | 1841637 | 1841637 | Human | | name |
| 156281461 | CV2016359 | single nucleotide variant | NM_012318.3(LETM1):c.415C>G (p.Pro139Ala) | not provided [RCV002715314] | uncertain significance | 4 | 1841526 | 1841526 | Human | | name |
| 156246292 | CV2029405 | single nucleotide variant | NM_012318.3(LETM1):c.971C>T (p.Pro324Leu) | not provided [RCV002745838] | uncertain significance | 4 | 1832853 | 1832853 | Human | | name |
| 156207796 | CV2032121 | single nucleotide variant | NM_012318.3(LETM1):c.387C>G (p.Asp129Glu) | not provided [RCV002711646] | uncertain significance | 4 | 1841554 | 1841554 | Human | | name |
| 155935358 | CV2114103 | single nucleotide variant | NM_012318.3(LETM1):c.416C>T (p.Pro139Leu) | not provided [RCV002904093] | uncertain significance | 4 | 1841525 | 1841525 | Human | | name |
| 155967483 | CV2131215 | single nucleotide variant | NM_012318.3(LETM1):c.520G>T (p.Asp174Tyr) | not provided [RCV002972687] | uncertain significance | 4 | 1841421 | 1841421 | Human | | name |
| 155937333 | CV2135069 | single nucleotide variant | NM_012318.3(LETM1):c.346G>A (p.Asp116Asn) | Inborn genetic diseases [RCV002993825]|not provided [RCV002993824] | uncertain significance | 4 | 1841595 | 1841595 | Human | 1 | name |
| 156243214 | CV2210885 | single nucleotide variant | NM_012318.3(LETM1):c.430C>T (p.Pro144Ser) | Inborn genetic diseases [RCV002701974] | uncertain significance | 4 | 1841511 | 1841511 | Human | 1 | name |
| 155941715 | CV2229275 | single nucleotide variant | NM_012318.3(LETM1):c.455C>A (p.Ser152Tyr) | Inborn genetic diseases [RCV002752020] | uncertain significance | 4 | 1841486 | 1841486 | Human | 1 | name |
| 156045472 | CV2234452 | single nucleotide variant | NM_012318.3(LETM1):c.343C>T (p.Arg115Cys) | Inborn genetic diseases [RCV002781700] | uncertain significance | 4 | 1841598 | 1841598 | Human | 1 | name |
| 155980799 | CV2244003 | single nucleotide variant | NM_012318.3(LETM1):c.644T>G (p.Phe215Cys) | Inborn genetic diseases [RCV002777689] | uncertain significance | 4 | 1836523 | 1836523 | Human | 1 | name |
| 156033278 | CV2275104 | single nucleotide variant | NM_012318.3(LETM1):c.484A>C (p.Lys162Gln) | Inborn genetic diseases [RCV002845541] | uncertain significance | 4 | 1841457 | 1841457 | Human | 1 | name |
| 156169206 | CV2276711 | single nucleotide variant | NM_012318.3(LETM1):c.478G>A (p.Glu160Lys) | Inborn genetic diseases [RCV002873005] | uncertain significance | 4 | 1841463 | 1841463 | Human | 1 | name |
| 156160328 | CV2361752 | single nucleotide variant | NM_012318.3(LETM1):c.646G>A (p.Val216Met) | Inborn genetic diseases [RCV002698216] | uncertain significance | 4 | 1836521 | 1836521 | Human | 1 | name |
| 401771317 | CV2722788 | single nucleotide variant | NM_012318.3(LETM1):c.334C>T (p.Arg112Cys) | Inborn genetic diseases [RCV003304313] | uncertain significance | 4 | 1841607 | 1841607 | Human | 1 | name |
| 401927844 | CV2822345 | single nucleotide variant | NM_012318.3(LETM1):c.466C>T (p.Arg156Trp) | not provided [RCV003439210] | likely benign | 4 | 1841475 | 1841475 | Human | | name |
| 404985866 | CV2852370 | single nucleotide variant | NM_012318.3(LETM1):c.920G>A (p.Arg307His) | not specified [RCV003489608] | uncertain significance | 4 | 1832904 | 1832904 | Human | | name |
| 405224967 | CV3142276 | single nucleotide variant | NM_012318.3(LETM1):c.392A>G (p.Asn131Ser) | not provided [RCV003847815] | uncertain significance | 4 | 1841549 | 1841549 | Human | | name |
| 405817769 | CV3280272 | single nucleotide variant | NM_012318.3(LETM1):c.335G>A (p.Arg112His) | Inborn genetic diseases [RCV004412779] | uncertain significance | 4 | 1841606 | 1841606 | Human | 1 | name |
| 407491989 | CV3452721 | single nucleotide variant | NM_012318.3(LETM1):c.565C>G (p.His189Asp) | Inborn genetic diseases [RCV004642362] | uncertain significance | 4 | 1841376 | 1841376 | Human | 1 | name |
| 596924216 | CV3532135 | single nucleotide variant | NM_012318.3(LETM1):c.903C>A (p.Ser301Arg) | not provided [RCV004777246] | uncertain significance | 4 | 1832921 | 1832921 | Human | | name |
| 597696735 | CV3696050 | single nucleotide variant | NM_012318.3(LETM1):c.623G>A (p.Arg208His) | Inborn genetic diseases [RCV004986550] | uncertain significance | 4 | 1836544 | 1836544 | Human | 1 | name |
| 597696739 | CV3696051 | single nucleotide variant | NM_012318.3(LETM1):c.376T>G (p.Ser126Ala) | Inborn genetic diseases [RCV004986551] | uncertain significance | 4 | 1841565 | 1841565 | Human | 1 | name |
| 597696752 | CV3696053 | single nucleotide variant | NM_012318.3(LETM1):c.578G>T (p.Arg193Leu) | Inborn genetic diseases [RCV004986553] | uncertain significance | 4 | 1841363 | 1841363 | Human | 1 | name |
| 597960449 | CV3811891 | single nucleotide variant | NM_012318.3(LETM1):c.518T>C (p.Ile173Thr) | not provided [RCV005163544] | uncertain significance | 4 | 1841423 | 1841423 | Human | | name |
| 15140669 | CV709257 | single nucleotide variant | NM_012318.3(LETM1):c.393C>A (p.Asn131Lys) | 4p partial monosomy syndrome [RCV002489385]|not provided [RCV000966177] | benign|likely benign | 4 | 1841548 | 1841548 | Human | 5 | name |
| 15140669 | CV709257 | single nucleotide variant | NM_012318.3(LETM1):c.393C>A (p.Asn131Lys) | 4p partial monosomy syndrome [RCV002489385]|not provided [RCV000966177] | benign|likely benign | 4 | 1841548 | 1841549 | Human | 5 | name |
| 127309790 | CV1154711 | single nucleotide variant | NM_012318.3(LETM1):c.1496G>A (p.Arg499His) | not provided [RCV001518026] | benign | 4 | 1822293 | 1822293 | Human | | name |
| 152153971 | CV1290504 | single nucleotide variant | NM_012318.3(LETM1):c.2220G>C (p.Ter740Tyr) | Global developmental delay [RCV002226782]|LETM1-associated clinical spectrum with predominant nervous system involvement [RCV002221678]|Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction [RCV002294480] | pathogenic|uncertain significance | 4 | 1814424 | 1814424 | Human | 4 | name , trait |
| 152153974 | CV1290507 | single nucleotide variant | NM_012318.3(LETM1):c.1072G>A (p.Asp358Asn) | LETM1-associated clinical spectrum with predominant nervous system involvement [RCV002221681] | pathogenic | 4 | 1832752 | 1832752 | Human | | name , trait |
| 152153975 | CV1290508 | single nucleotide variant | NM_012318.3(LETM1):c.1178G>A (p.Arg393His) | LETM1-associated clinical spectrum with predominant nervous system involvement [RCV002221682]|not provided [RCV002307757] | likely pathogenic|uncertain significance | 4 | 1825586 | 1825586 | Human | 1 | name , trait |
| 152153976 | CV1290509 | single nucleotide variant | NM_012318.3(LETM1):c.1139G>C (p.Arg380Pro) | LETM1-associated clinical spectrum with predominant nervous system involvement [RCV002221683] | pathogenic | 4 | 1825625 | 1825625 | Human | | name , trait |
| 151862389 | CV1353459 | single nucleotide variant | NM_012318.3(LETM1):c.1492G>A (p.Glu498Lys) | Inborn genetic diseases [RCV004631833]|not provided [RCV001924163] | uncertain significance | 4 | 1822297 | 1822297 | Human | 1 | name |
| 151846192 | CV1368338 | single nucleotide variant | NM_012318.3(LETM1):c.1910C>T (p.Pro637Leu) | not provided [RCV001936741] | uncertain significance | 4 | 1816748 | 1816748 | Human | | name |
| 151818141 | CV1385696 | single nucleotide variant | NM_012318.3(LETM1):c.1858G>A (p.Asp620Asn) | not provided [RCV002013106] | uncertain significance | 4 | 1816800 | 1816800 | Human | | name |
| 151852653 | CV1397445 | single nucleotide variant | NM_012318.3(LETM1):c.1463G>A (p.Arg488His) | Inborn genetic diseases [RCV004043714]|not provided [RCV001958200] | uncertain significance | 4 | 1823001 | 1823001 | Human | 1 | name |
| 151841103 | CV1415481 | single nucleotide variant | NM_012318.3(LETM1):c.1052G>A (p.Arg351Gln) | Inborn genetic diseases [RCV004044228]|not provided [RCV001921545] | uncertain significance | 4 | 1832772 | 1832772 | Human | 1 | name |
| 151753408 | CV1426998 | single nucleotide variant | NM_012318.3(LETM1):c.1466C>G (p.Ser489Trp) | not provided [RCV002007094] | uncertain significance | 4 | 1822998 | 1822998 | Human | | name |
| 151794280 | CV1434245 | single nucleotide variant | NM_012318.3(LETM1):c.1723G>T (p.Asp575Tyr) | not provided [RCV001866534] | uncertain significance | 4 | 1819358 | 1819358 | Human | | name |
| 151724113 | CV1459218 | single nucleotide variant | NM_012318.3(LETM1):c.1741G>A (p.Glu581Lys) | not provided [RCV002020566] | uncertain significance | 4 | 1819340 | 1819340 | Human | | name |
| 151779914 | CV1473906 | single nucleotide variant | NM_012318.3(LETM1):c.1667A>G (p.Gln556Arg) | not provided [RCV001864867] | uncertain significance | 4 | 1819414 | 1819414 | Human | | name |
| 151752815 | CV1480017 | single nucleotide variant | NM_012318.3(LETM1):c.1462C>T (p.Arg488Cys) | not provided [RCV001927696] | uncertain significance | 4 | 1823002 | 1823002 | Human | | name |
| 151838303 | CV1501366 | single nucleotide variant | NM_012318.3(LETM1):c.2029G>A (p.Glu677Lys) | not provided [RCV001977390] | uncertain significance | 4 | 1815705 | 1815705 | Human | | name |
| 155994295 | CV1879323 | single nucleotide variant | NM_012318.3(LETM1):c.1518G>T (p.Arg506Ser) | not provided [RCV003076266] | uncertain significance | 4 | 1822271 | 1822271 | Human | | name |
| 156328994 | CV1887562 | single nucleotide variant | NM_012318.3(LETM1):c.1528G>A (p.Glu510Lys) | Inborn genetic diseases [RCV004071964]|not provided [RCV003089673] | uncertain significance | 4 | 1822261 | 1822261 | Human | 1 | name |
| 156413323 | CV1887830 | single nucleotide variant | NM_012318.3(LETM1):c.1421C>T (p.Ala474Val) | not provided [RCV003073245] | uncertain significance | 4 | 1823043 | 1823043 | Human | | name |
| 156405233 | CV1913004 | single nucleotide variant | NM_012318.3(LETM1):c.1165G>A (p.Val389Ile) | not provided [RCV002606283] | uncertain significance | 4 | 1825599 | 1825599 | Human | | name |
| 156300618 | CV1933457 | single nucleotide variant | NM_012318.3(LETM1):c.2065G>A (p.Val689Ile) | not provided [RCV002629227] | uncertain significance | 4 | 1815669 | 1815669 | Human | | name |
| 156444022 | CV1941301 | single nucleotide variant | NM_012318.3(LETM1):c.1849G>A (p.Gly617Arg) | not provided [RCV003114938] | uncertain significance | 4 | 1816809 | 1816809 | Human | | name |
| 156114706 | CV1958158 | single nucleotide variant | NM_012318.3(LETM1):c.1832G>C (p.Arg611Thr) | not provided [RCV002592902] | uncertain significance | 4 | 1816826 | 1816826 | Human | | name |
| 155966578 | CV1978133 | single nucleotide variant | NM_012318.3(LETM1):c.1987A>G (p.Ile663Val) | not provided [RCV002616984] | uncertain significance | 4 | 1815747 | 1815747 | Human | | name |
| 156419994 | CV1979332 | single nucleotide variant | NM_012318.3(LETM1):c.2203G>A (p.Ala735Thr) | not provided [RCV002613243] | uncertain significance | 4 | 1814441 | 1814441 | Human | | name |
| 156394607 | CV1983672 | single nucleotide variant | NM_012318.3(LETM1):c.1430A>G (p.Gln477Arg) | not provided [RCV002605018] | uncertain significance | 4 | 1823034 | 1823034 | Human | | name |
| 156353598 | CV1994787 | single nucleotide variant | NM_012318.3(LETM1):c.1009T>A (p.Ser337Thr) | not provided [RCV002675765] | uncertain significance | 4 | 1832815 | 1832815 | Human | | name |
| 156278433 | CV2053708 | single nucleotide variant | NM_012318.3(LETM1):c.1273G>T (p.Asp425Tyr) | not provided [RCV002806906] | uncertain significance | 4 | 1823703 | 1823703 | Human | | name |
| 155942337 | CV2068321 | single nucleotide variant | NM_012318.3(LETM1):c.2117A>G (p.Gln706Arg) | not provided [RCV002839495] | uncertain significance | 4 | 1814527 | 1814527 | Human | | name |
| 155956543 | CV2078317 | single nucleotide variant | NM_012318.3(LETM1):c.1058G>A (p.Arg353His) | not provided [RCV002880796] | uncertain significance | 4 | 1832766 | 1832766 | Human | | name |
| 155930501 | CV2096009 | single nucleotide variant | NM_012318.3(LETM1):c.1447A>G (p.Lys483Glu) | not provided [RCV002903798] | uncertain significance | 4 | 1823017 | 1823017 | Human | | name |
| 156297390 | CV2108618 | single nucleotide variant | NM_012318.3(LETM1):c.1216C>G (p.Leu406Val) | not provided [RCV002922411] | uncertain significance | 4 | 1823760 | 1823760 | Human | | name |
| 156168891 | CV2133490 | single nucleotide variant | NM_012318.3(LETM1):c.1520C>T (p.Pro507Leu) | not provided [RCV003005325] | uncertain significance | 4 | 1822269 | 1822269 | Human | | name |
| 155962550 | CV2134534 | single nucleotide variant | NM_012318.3(LETM1):c.1077C>G (p.Asp359Glu) | not provided [RCV002972457] | uncertain significance | 4 | 1832747 | 1832747 | Human | | name |
| 156031711 | CV2135503 | single nucleotide variant | NM_012318.3(LETM1):c.1772C>A (p.Ser591Ter) | not provided [RCV002999168] | uncertain significance | 4 | 1816886 | 1816886 | Human | | name |
| 156133800 | CV2187892 | single nucleotide variant | NM_012318.3(LETM1):c.1346A>G (p.Gln449Arg) | not provided [RCV003055934] | uncertain significance | 4 | 1823118 | 1823118 | Human | | name |
| 156148118 | CV2197006 | single nucleotide variant | NM_012318.3(LETM1):c.1442G>T (p.Arg481Leu) | Inborn genetic diseases [RCV002641700] | uncertain significance | 4 | 1823022 | 1823022 | Human | 1 | name |
| 156116873 | CV2231728 | single nucleotide variant | NM_012318.3(LETM1):c.1759A>C (p.Lys587Gln) | Inborn genetic diseases [RCV002762038] | uncertain significance | 4 | 1816899 | 1816899 | Human | 1 | name |
| 156207422 | CV2298042 | single nucleotide variant | NM_012318.3(LETM1):c.1551C>G (p.Asp517Glu) | Inborn genetic diseases [RCV002875234] | uncertain significance | 4 | 1822238 | 1822238 | Human | 1 | name |
| 156169368 | CV2317073 | single nucleotide variant | NM_012318.3(LETM1):c.1538C>A (p.Pro513Gln) | Inborn genetic diseases [RCV002929751] | uncertain significance | 4 | 1822251 | 1822251 | Human | 1 | name |
| 156305105 | CV2338641 | single nucleotide variant | NM_012318.3(LETM1):c.1495C>T (p.Arg499Cys) | Inborn genetic diseases [RCV002936711] | uncertain significance | 4 | 1822294 | 1822294 | Human | 1 | name |
| 156189352 | CV2375542 | single nucleotide variant | NM_012318.3(LETM1):c.1795G>T (p.Val599Leu) | Inborn genetic diseases [RCV002699853] | uncertain significance | 4 | 1816863 | 1816863 | Human | 1 | name |
| 329368000 | CV2427664 | single nucleotide variant | NM_012318.3(LETM1):c.2114G>A (p.Ser705Asn) | Inborn genetic diseases [RCV003183482] | uncertain significance | 4 | 1814530 | 1814530 | Human | 1 | name |
| 401771008 | CV2700808 | single nucleotide variant | NM_012318.3(LETM1):c.1406C>T (p.Thr469Met) | Inborn genetic diseases [RCV003261305] | uncertain significance | 4 | 1823058 | 1823058 | Human | 1 | name |
| 401751344 | CV2708576 | single nucleotide variant | NM_012318.3(LETM1):c.1401G>C (p.Glu467Asp) | Inborn genetic diseases [RCV003277007] | uncertain significance | 4 | 1823063 | 1823063 | Human | 1 | name |
| 401753619 | CV2722529 | single nucleotide variant | NM_012318.3(LETM1):c.1937A>C (p.Asn646Thr) | Inborn genetic diseases [RCV003277752] | likely benign | 4 | 1815797 | 1815797 | Human | 1 | name |
| 401917635 | CV2829938 | single nucleotide variant | NM_012318.3(LETM1):c.1605G>C (p.Leu535Phe) | not provided [RCV003443982] | uncertain significance | 4 | 1822184 | 1822184 | Human | | name |
| 405817765 | CV3280268 | single nucleotide variant | NM_012318.3(LETM1):c.1764G>C (p.Lys588Asn) | Inborn genetic diseases [RCV004412775] | uncertain significance | 4 | 1816894 | 1816894 | Human | 1 | name |
| 405817766 | CV3280269 | single nucleotide variant | NM_012318.3(LETM1):c.1951G>C (p.Ala651Pro) | Inborn genetic diseases [RCV004412776] | uncertain significance | 4 | 1815783 | 1815783 | Human | 1 | name |
| 405817767 | CV3280270 | single nucleotide variant | NM_012318.3(LETM1):c.1966G>A (p.Ala656Thr) | Inborn genetic diseases [RCV004412777] | uncertain significance | 4 | 1815768 | 1815768 | Human | 1 | name |
| 407460622 | CV3452722 | single nucleotide variant | NM_012318.3(LETM1):c.1529A>C (p.Glu510Ala) | Inborn genetic diseases [RCV004633940] | uncertain significance | 4 | 1822260 | 1822260 | Human | 1 | name |
| 597654959 | CV3721392 | single nucleotide variant | NM_012318.3(LETM1):c.1538C>T (p.Pro513Leu) | Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction [RCV005027313] | uncertain significance | 4 | 1822251 | 1822251 | Human | 1 | name |
| 597956358 | CV3792385 | single nucleotide variant | NM_012318.3(LETM1):c.1833G>C (p.Arg611Ser) | not provided [RCV005137272] | uncertain significance | 4 | 1816825 | 1816825 | Human | | name |
| 598236661 | CV3984424 | single nucleotide variant | NM_012318.3(LETM1):c.1679A>C (p.Lys560Thr) | Inborn genetic diseases [RCV005363912] | uncertain significance | 4 | 1819402 | 1819402 | Human | 1 | name |
| 15174658 | CV698442 | single nucleotide variant | NM_012318.3(LETM1):c.1760A>G (p.Lys587Arg) | not provided [RCV000950394] | benign | 4 | 1816898 | 1816898 | Human | | name |
| 15174411 | CV709245 | single nucleotide variant | NM_012318.3(LETM1):c.1817A>G (p.Lys606Arg) | not provided [RCV000972711] | benign | 4 | 1816841 | 1816841 | Human | | name |
| 15184736 | CV720850 | single nucleotide variant | NM_012318.3(LETM1):c.2090A>G (p.Lys697Arg) | not provided [RCV000886515] | benign | 4 | 1814554 | 1814554 | Human | | name |
| 15176012 | CV720851 | single nucleotide variant | NM_012318.3(LETM1):c.1995A>C (p.Glu665Asp) | not provided [RCV000884493] | benign | 4 | 1815739 | 1815739 | Human | | name |
| 38460014 | CV918890 | single nucleotide variant | NM_012318.3(LETM1):c.1261A>T (p.Met421Leu) | 4p partial monosomy syndrome [RCV001195997] | uncertain significance | 4 | 1823715 | 1823715 | Human | 2 | name |
| 152153972 | CV1290505 | microsatellite | NM_012318.3(LETM1):c.751AAG[1] (p.Lys252del) | LETM1-associated clinical spectrum with predominant nervous system involvement [RCV002221679] | pathogenic | 4 | 1834965 | 1834967 | Human | | name , trait |
| 151774572 | CV1430939 | deletion | NM_012318.3(LETM1):c.888_889del (p.Arg299fs) | not provided [RCV001864393]|not specified [RCV005238027] | uncertain significance | 4 | 1832935 | 1832936 | Human | | name |
| 151869838 | CV1412234 | microsatellite | NM_012318.3(LETM1):c.1021AAC[3] (p.Asn342dup) | not provided [RCV001884997] | uncertain significance | 4 | 1832797 | 1832798 | Human | | name |
| 596928436 | CV3540408 | indel | NM_012318.3(LETM1):c.1791delinsAA (p.Tyr598fs) | Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction [RCV004794735] | likely pathogenic | 4 | 1816867 | 1816867 | Human | | name |
