| 15181540 | CV730720 | single nucleotide variant | NM_002079.3(GOT1):c.643-5C>T | not provided [RCV000885789] | benign|likely benign | 10 | 99403879 | 99403879 | Human | | name |
| 155983024 | CV2273033 | single nucleotide variant | NM_002079.3(GOT1):c.44C>T (p.Pro15Leu) | not specified [RCV004137686] | uncertain significance | 10 | 99430522 | 99430522 | Human | | name |
| 156187743 | CV2318933 | single nucleotide variant | NM_002079.3(GOT1):c.38C>T (p.Ala13Val) | not specified [RCV004175824] | uncertain significance | 10 | 99430528 | 99430528 | Human | | name |
| 405293435 | CV3207444 | single nucleotide variant | NM_002079.3(GOT1):c.570C>T (p.His190=) | GOT1-related disorder [RCV003931819] | likely benign | 10 | 99405828 | 99405828 | Human | | name , trait , alternate_id |
| 405287933 | CV3217999 | single nucleotide variant | NM_002079.3(GOT1):c.363G>A (p.Ala121=) | GOT1-related disorder [RCV003982123] | benign | 10 | 99406787 | 99406787 | Human | | name , trait , alternate_id |
| 597732495 | CV3688217 | single nucleotide variant | NM_002079.3(GOT1):c.46G>A (p.Val16Ile) | not specified [RCV004920026] | uncertain significance | 10 | 99430520 | 99430520 | Human | | name |
| 156227929 | CV2234851 | single nucleotide variant | NM_002079.3(GOT1):c.257G>A (p.Arg86His) | not specified [RCV004113071] | uncertain significance | 10 | 99420667 | 99420667 | Human | | name |
| 156245335 | CV2310335 | single nucleotide variant | NM_002079.3(GOT1):c.172G>C (p.Glu58Gln) | not specified [RCV004163383] | uncertain significance | 10 | 99420752 | 99420752 | Human | | name |
| 156333472 | CV2335997 | single nucleotide variant | NM_002079.3(GOT1):c.198C>G (p.Ser66Arg) | not specified [RCV004189603] | uncertain significance | 10 | 99420726 | 99420726 | Human | | name |
| 329356585 | CV2430822 | single nucleotide variant | NM_002079.3(GOT1):c.256C>T (p.Arg86Cys) | not specified [RCV004253996] | uncertain significance | 10 | 99420668 | 99420668 | Human | | name |
| 405786980 | CV3258566 | single nucleotide variant | NM_002079.3(GOT1):c.214C>A (p.Leu72Met) | not specified [RCV004387879] | uncertain significance | 10 | 99420710 | 99420710 | Human | | name |
| 597789126 | CV3688216 | single nucleotide variant | NM_002079.3(GOT1):c.180G>T (p.Lys60Asn) | not specified [RCV004932892] | uncertain significance | 10 | 99420744 | 99420744 | Human | | name |
| 156040423 | CV2332813 | single nucleotide variant | NM_002079.3(GOT1):c.364C>T (p.Arg122Cys) | not specified [RCV004189478] | uncertain significance | 10 | 99406786 | 99406786 | Human | | name |
| 156190096 | CV2339503 | single nucleotide variant | NM_002079.3(GOT1):c.874G>A (p.Val292Met) | not specified [RCV004194169] | uncertain significance | 10 | 99403554 | 99403554 | Human | | name |
| 405266018 | CV3215804 | single nucleotide variant | NM_002079.3(GOT1):c.479G>A (p.Arg160His) | GOT1-related disorder [RCV003946952] | likely benign | 10 | 99406195 | 99406195 | Human | 5 | name , trait , alternate_id |
| 405786985 | CV3258567 | single nucleotide variant | NM_002079.3(GOT1):c.597T>G (p.Ile199Met) | not specified [RCV004387880] | uncertain significance | 10 | 99405801 | 99405801 | Human | | name |
| 405786990 | CV3258568 | single nucleotide variant | NM_002079.3(GOT1):c.647G>A (p.Arg216Gln) | not specified [RCV004387881] | uncertain significance | 10 | 99403870 | 99403870 | Human | | name |
| 405786994 | CV3258569 | single nucleotide variant | NM_002079.3(GOT1):c.769T>G (p.Phe257Val) | not specified [RCV004387882] | uncertain significance | 10 | 99403748 | 99403748 | Human | | name |
| 405787125 | CV3258570 | single nucleotide variant | NM_002079.3(GOT1):c.914G>A (p.Arg305Gln) | not specified [RCV004387883] | uncertain significance | 10 | 99403514 | 99403514 | Human | | name |
| 405787128 | CV3258571 | single nucleotide variant | NM_002079.3(GOT1):c.945G>C (p.Glu315Asp) | not specified [RCV004387884] | uncertain significance | 10 | 99403483 | 99403483 | Human | | name |
| 407520524 | CV3439845 | single nucleotide variant | NM_002079.3(GOT1):c.365G>A (p.Arg122His) | not specified [RCV004630078] | uncertain significance | 10 | 99406785 | 99406785 | Human | | name |
| 407520527 | CV3439846 | single nucleotide variant | NM_002079.3(GOT1):c.829G>C (p.Glu277Gln) | not specified [RCV004630079] | uncertain significance | 10 | 99403599 | 99403599 | Human | | name |
| 597732509 | CV3688218 | single nucleotide variant | NM_002079.3(GOT1):c.631T>G (p.Ser211Ala) | not specified [RCV004920027] | uncertain significance | 10 | 99405767 | 99405767 | Human | | name |
| 597789134 | CV3688220 | single nucleotide variant | NM_002079.3(GOT1):c.832C>T (p.Pro278Ser) | not specified [RCV004932894] | uncertain significance | 10 | 99403596 | 99403596 | Human | | name |
| 598265086 | CV3974638 | single nucleotide variant | NM_002079.3(GOT1):c.397C>T (p.Pro133Ser) | not specified [RCV005348981] | uncertain significance | 10 | 99406753 | 99406753 | Human | | name |
| 15155639 | CV724149 | single nucleotide variant | NM_002079.3(GOT1):c.548A>G (p.Glu183Gly) | not provided [RCV000880459] | benign | 10 | 99405850 | 99405850 | Human | | name |
| 155970228 | CV2241322 | single nucleotide variant | NM_002079.3(GOT1):c.1225G>C (p.Val409Leu) | not specified [RCV004102462] | uncertain significance | 10 | 99397564 | 99397564 | Human | | name |
| 156264145 | CV2364247 | single nucleotide variant | NM_002079.3(GOT1):c.1036A>G (p.Lys346Glu) | not specified [RCV004223479] | uncertain significance | 10 | 99402646 | 99402646 | Human | | name |
| 401868753 | CV2782171 | single nucleotide variant | NM_002079.3(GOT1):c.1057C>T (p.His353Tyr) | not specified [RCV004359149] | uncertain significance | 10 | 99402625 | 99402625 | Human | | name |
| 597789130 | CV3688219 | single nucleotide variant | NM_002079.3(GOT1):c.1000A>G (p.Met334Val) | not specified [RCV004932893] | uncertain significance | 10 | 99402682 | 99402682 | Human | | name |
| 598233169 | CV3974639 | single nucleotide variant | NM_002079.3(GOT1):c.1213A>T (p.Ile405Phe) | not specified [RCV005342716] | uncertain significance | 10 | 99397576 | 99397576 | Human | | name |
| 8567877 | CV38679 | deletion | NM_002079.3(GOT1):c.1165_1167del (p.Asn389del) | ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 [RCV000022576] | pathogenic | 10 | 99397622 | 99397624 | Human | | name |
| 401925803 | CV2821025 | single nucleotide variant | NM_152413.3(GOT1L1):c.81T>C (p.Asp27=) | not provided [RCV003436863] | likely benign | 8 | 37939949 | 37939949 | Human | | name |
| 155922742 | CV2219114 | single nucleotide variant | NM_152413.3(GOT1L1):c.23T>C (p.Met8Thr) | not specified [RCV004087272] | uncertain significance | 8 | 37940007 | 37940007 | Human | | name |
| 156041236 | CV2342122 | single nucleotide variant | NM_152413.3(GOT1L1):c.89C>T (p.Pro30Leu) | not specified [RCV004191715] | uncertain significance | 8 | 37939941 | 37939941 | Human | | name |
| 598233177 | CV3974640 | single nucleotide variant | NM_152413.3(GOT1L1):c.37G>A (p.Ala13Thr) | not specified [RCV005342717] | uncertain significance | 8 | 37939993 | 37939993 | Human | | name |
| 155978344 | CV2247040 | single nucleotide variant | NM_152413.3(GOT1L1):c.154G>A (p.Val52Met) | not specified [RCV004114596] | uncertain significance | 8 | 37938843 | 37938843 | Human | | name |
| 156184935 | CV2294910 | single nucleotide variant | NM_152413.3(GOT1L1):c.269A>G (p.Lys90Arg) | not specified [RCV004156060] | uncertain significance | 8 | 37938728 | 37938728 | Human | | name |
| 156203488 | CV2313313 | single nucleotide variant | NM_152413.3(GOT1L1):c.121A>G (p.Met41Val) | not specified [RCV004161554] | uncertain significance | 8 | 37938876 | 37938876 | Human | | name |
| 401758578 | CV2694172 | single nucleotide variant | NM_152413.3(GOT1L1):c.110A>G (p.Tyr37Cys) | not specified [RCV004302598] | uncertain significance | 8 | 37939920 | 37939920 | Human | | name |
| 401763395 | CV2703809 | single nucleotide variant | NM_152413.3(GOT1L1):c.107C>A (p.Ala36Asp) | not specified [RCV004306678] | uncertain significance | 8 | 37939923 | 37939923 | Human | | name |
| 401866161 | CV2762549 | single nucleotide variant | NM_152413.3(GOT1L1):c.244G>A (p.Ala82Thr) | not specified [RCV004338082] | uncertain significance | 8 | 37938753 | 37938753 | Human | | name |
| 407520537 | CV3439850 | single nucleotide variant | NM_152413.3(GOT1L1):c.169C>G (p.Arg57Gly) | not specified [RCV004630083] | uncertain significance | 8 | 37938828 | 37938828 | Human | | name |
| 407520540 | CV3439851 | single nucleotide variant | NM_152413.3(GOT1L1):c.107C>T (p.Ala36Val) | not specified [RCV004630084] | uncertain significance | 8 | 37939923 | 37939923 | Human | | name |
| 597732518 | CV3688222 | single nucleotide variant | NM_152413.3(GOT1L1):c.137A>G (p.His46Arg) | not specified [RCV004920028] | uncertain significance | 8 | 37938860 | 37938860 | Human | | name |
| 597732540 | CV3688224 | single nucleotide variant | NM_152413.3(GOT1L1):c.104T>C (p.Leu35Ser) | not specified [RCV004920030] | uncertain significance | 8 | 37939926 | 37939926 | Human | | name |
| 156374638 | CV2194692 | single nucleotide variant | NM_152413.3(GOT1L1):c.884G>A (p.Arg295His) | not specified [RCV004075251] | uncertain significance | 8 | 37935749 | 37935749 | Human | | name |
| 156264696 | CV2198596 | single nucleotide variant | NM_152413.3(GOT1L1):c.551G>C (p.Gly184Ala) | not specified [RCV004075614] | uncertain significance | 8 | 37937026 | 37937026 | Human | | name |
| 155918578 | CV2205961 | single nucleotide variant | NM_152413.3(GOT1L1):c.379C>T (p.Arg127Cys) | not specified [RCV004078388] | uncertain significance | 8 | 37937668 | 37937668 | Human | | name |
| 155901002 | CV2241888 | single nucleotide variant | NM_152413.3(GOT1L1):c.869C>A (p.Pro290His) | not specified [RCV004106805] | uncertain significance | 8 | 37935764 | 37935764 | Human | | name |
| 156283045 | CV2334637 | single nucleotide variant | NM_152413.3(GOT1L1):c.424G>A (p.Val142Ile) | not specified [RCV004188622] | likely benign | 8 | 37937372 | 37937372 | Human | | name |
| 401729442 | CV2733056 | single nucleotide variant | NM_152413.3(GOT1L1):c.428T>G (p.Phe143Cys) | not specified [RCV004331225] | uncertain significance | 8 | 37937368 | 37937368 | Human | | name |
| 401866491 | CV2775566 | single nucleotide variant | NM_152413.3(GOT1L1):c.707C>T (p.Ser236Phe) | not specified [RCV004350734] | uncertain significance | 8 | 37936776 | 37936776 | Human | | name |
| 405787148 | CV3258575 | single nucleotide variant | NM_152413.3(GOT1L1):c.328G>A (p.Gly110Ser) | not specified [RCV004387888] | uncertain significance | 8 | 37937719 | 37937719 | Human | | name |
| 405787153 | CV3258576 | single nucleotide variant | NM_152413.3(GOT1L1):c.562G>C (p.Asp188His) | not specified [RCV004387889] | uncertain significance | 8 | 37937015 | 37937015 | Human | | name |
| 407520531 | CV3439848 | single nucleotide variant | NM_152413.3(GOT1L1):c.642T>G (p.Ile214Met) | not specified [RCV004630081] | uncertain significance | 8 | 37936841 | 37936841 | Human | | name |
| 597789138 | CV3688221 | single nucleotide variant | NM_152413.3(GOT1L1):c.689T>A (p.Ile230Asn) | not specified [RCV004932895] | uncertain significance | 8 | 37936794 | 37936794 | Human | | name |
| 597732529 | CV3688223 | single nucleotide variant | NM_152413.3(GOT1L1):c.849G>C (p.Gln283His) | not specified [RCV004920029] | uncertain significance | 8 | 37935784 | 37935784 | Human | | name |
| 598265091 | CV3974641 | single nucleotide variant | NM_152413.3(GOT1L1):c.332C>T (p.Ala111Val) | not specified [RCV005348982] | uncertain significance | 8 | 37937715 | 37937715 | Human | | name |
| 156248770 | CV2203219 | single nucleotide variant | NM_152413.3(GOT1L1):c.1187A>G (p.Asn396Ser) | not specified [RCV004070910] | uncertain significance | 8 | 37934372 | 37934372 | Human | | name |
| 401761023 | CV2695249 | single nucleotide variant | NM_152413.3(GOT1L1):c.1145G>A (p.Cys382Tyr) | not specified [RCV004303381] | uncertain significance | 8 | 37934414 | 37934414 | Human | | name |
| 401859843 | CV2768364 | single nucleotide variant | NM_152413.3(GOT1L1):c.1001T>C (p.Leu334Pro) | not specified [RCV004350621] | uncertain significance | 8 | 37935144 | 37935144 | Human | | name |
| 405787133 | CV3258572 | single nucleotide variant | NM_152413.3(GOT1L1):c.1036G>A (p.Glu346Lys) | not specified [RCV004387885] | uncertain significance | 8 | 37935109 | 37935109 | Human | | name |
| 405787137 | CV3258573 | single nucleotide variant | NM_152413.3(GOT1L1):c.1093G>A (p.Val365Ile) | not specified [RCV004387886] | uncertain significance | 8 | 37934466 | 37934466 | Human | | name |
| 405787142 | CV3258574 | single nucleotide variant | NM_152413.3(GOT1L1):c.1190A>G (p.Glu397Gly) | not specified [RCV004387887] | uncertain significance | 8 | 37934369 | 37934369 | Human | | name |
| 407520534 | CV3439849 | single nucleotide variant | NM_152413.3(GOT1L1):c.1171A>G (p.Ile391Val) | not specified [RCV004630082] | uncertain significance | 8 | 37934388 | 37934388 | Human | | name |
| 598233184 | CV3974642 | single nucleotide variant | NM_152413.3(GOT1L1):c.1142G>C (p.Ser381Thr) | not specified [RCV005342718] | likely benign | 8 | 37934417 | 37934417 | Human | | name |