| 405295446 | CV3204701 | single nucleotide variant | NM_004462.5(FDFT1):c.-2G>A | FDFT1-related disorder [RCV003937353] | likely benign | 8 | 11802831 | 11802831 | Human | | name , trait , alternate_id |
| 150436091 | CV1267659 | single nucleotide variant | NM_004462.5(FDFT1):c.879+9G>C | Squalene synthase deficiency [RCV001702243]|not provided [RCV001687683] | benign | 8 | 11830429 | 11830429 | Human | 1 | name |
| 329952212 | CV2668916 | single nucleotide variant | NM_004462.5(FDFT1):c.702+1G>T | not specified [RCV003231000] | uncertain significance | 8 | 11826216 | 11826216 | Human | | name |
| 405278567 | CV3200202 | single nucleotide variant | NM_004462.5(FDFT1):c.198-7T>A | FDFT1-related disorder [RCV003967283] | likely benign | 8 | 11809660 | 11809660 | Human | | name , trait , alternate_id |
| 405273675 | CV3214197 | duplication | NM_004462.5(FDFT1):c.382-3dup | FDFT1-related disorder [RCV003914763]|Squalene synthase deficiency [RCV005358058] | likely benign|uncertain significance | 8 | 11821746 | 11821747 | Human | 1 | name , trait , alternate_id |
| 329353259 | CV2477045 | single nucleotide variant | NM_004462.5(FDFT1):c.99+410G>A | not provided [RCV003223277] | likely benign | 8 | 11803341 | 11803341 | Human | | name |
| 401829866 | CV2744042 | single nucleotide variant | NM_004462.5(FDFT1):c.100-85G>C | FDFT1-related disorder [RCV003397008]|not provided [RCV003327198] | uncertain significance | 8 | 11808709 | 11808709 | Human | 1 | name , trait , alternate_id |
| 401925731 | CV2820899 | single nucleotide variant | NM_004462.5(FDFT1):c.100-40C>T | not provided [RCV003436741] | likely benign | 8 | 11808754 | 11808754 | Human | | name |
| 405278729 | CV3220163 | duplication | NM_004462.5(FDFT1):c.880-21dup | FDFT1-related disorder [RCV003969426] | likely benign | 8 | 11831494 | 11831495 | Human | | name , trait , alternate_id |
| 126911944 | CV1037841 | single nucleotide variant | NM_004462.5(FDFT1):c.100-232G>C | FDFT1-related disorder [RCV003928858]|not provided [RCV001355959] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 11808562 | 11808562 | Human | 2 | name , trait , alternate_id |
| 126911944 | CV1037841 | single nucleotide variant | NM_004462.5(FDFT1):c.100-232G>C | FDFT1-related disorder [RCV003928858]|not provided [RCV001355959] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 11808562 | 11808563 | Human | 2 | name , trait , alternate_id |
| 150439281 | CV1275110 | single nucleotide variant | NM_004462.5(FDFT1):c.1033-25T>C | Squalene synthase deficiency [RCV001703303]|not provided [RCV004711710] | benign | 8 | 11838363 | 11838363 | Human | 3 | name |
| 155798568 | CV1862068 | single nucleotide variant | NM_004462.5(FDFT1):c.100-101G>A | Squalene synthase deficiency [RCV002471471] | uncertain significance | 8 | 11808693 | 11808693 | Human | 1 | name |
| 401727229 | CV2736260 | single nucleotide variant | NM_004462.5(FDFT1):c.100-179C>G | FDFT1-related disorder [RCV003936742]|not provided [RCV003312708] | benign|likely benign | 8 | 11808615 | 11808615 | Human | 1 | name , trait , alternate_id |
| 401925732 | CV2820898 | single nucleotide variant | NM_004462.5(FDFT1):c.100-208C>T | not provided [RCV003436740] | likely benign | 8 | 11808586 | 11808586 | Human | | name |
| 405273834 | CV3206667 | single nucleotide variant | NM_004462.5(FDFT1):c.100-145C>G | FDFT1-related disorder [RCV003917107] | benign | 8 | 11808649 | 11808649 | Human | | name , trait , alternate_id |
| 405277562 | CV3216405 | single nucleotide variant | NM_004462.5(FDFT1):c.100-130C>G | FDFT1-related disorder [RCV003954350] | likely benign | 8 | 11808664 | 11808664 | Human | | name , trait , alternate_id |
| 405278573 | CV3220051 | single nucleotide variant | NM_004462.5(FDFT1):c.100-498C>T | FDFT1-related disorder [RCV003967196] | benign | 8 | 11808296 | 11808296 | Human | | name , trait , alternate_id |
| 405279368 | CV3196232 | microsatellite | NM_004462.5(FDFT1):c.100-84TCCCAC[4] | FDFT1-related disorder [RCV003974104] | benign | 8 | 11808710 | 11808721 | Human | | name , trait , alternate_id |
| 405275071 | CV3214849 | microsatellite | NM_004462.5(FDFT1):c.100-84TCCCAC[9] | FDFT1-related disorder [RCV003934260] | benign | 8 | 11808709 | 11808710 | Human | | name , trait , alternate_id |
| 405280167 | CV3218018 | microsatellite | NM_004462.5(FDFT1):c.100-84TCCCAC[5] | FDFT1-related disorder [RCV003982142] | benign | 8 | 11808710 | 11808715 | Human | | name , trait , alternate_id |
| 150547141 | CV1291896 | microsatellite | NM_004462.5(FDFT1):c.100-84TCCCAC[11] | Squalene synthase deficiency [RCV001733567]|not provided [RCV004692715] | uncertain significance | 8 | 11808709 | 11808710 | Human | | name |
| 401907725 | CV2801142 | microsatellite | NM_004462.5(FDFT1):c.100-84TCCCAC[16] | FDFT1-related disorder [RCV003397384] | uncertain significance | 8 | 11808709 | 11808710 | Human | | name , trait , alternate_id |
| 405277816 | CV3218458 | microsatellite | NM_004462.5(FDFT1):c.100-84TCCCAC[10] | FDFT1-related disorder [RCV003957256]|not provided [RCV004546838] | likely benign | 8 | 11808709 | 11808710 | Human | | name , trait , alternate_id |
| 126742239 | CV1016991 | single nucleotide variant | NM_004462.5(FDFT1):c.19C>A (p.Leu7Ile) | Squalene synthase deficiency [RCV001329901] | uncertain significance | 8 | 11802851 | 11802851 | Human | 1 | name |
| 404986991 | CV2852570 | deletion | NM_004462.5(FDFT1):c.87del (p.Lys30fs) | not specified [RCV003489780] | uncertain significance | 8 | 11802917 | 11802917 | Human | | name |
| 405276041 | CV3193248 | single nucleotide variant | NM_004462.5(FDFT1):c.201C>T (p.Asn67=) | FDFT1-related disorder [RCV003974414] | benign | 8 | 11809670 | 11809670 | Human | | name , trait , alternate_id |
| 405258689 | CV3194111 | single nucleotide variant | NM_004462.5(FDFT1):c.174C>T (p.Ile58=) | FDFT1-related disorder [RCV003893693] | likely benign | 8 | 11808868 | 11808868 | Human | | name , trait , alternate_id |
| 15101016 | CV700363 | single nucleotide variant | NM_004462.5(FDFT1):c.181C>T (p.Leu61=) | FDFT1-related disorder [RCV003978337]|not provided [RCV000959004] | benign | 8 | 11808875 | 11808875 | Human | 1 | name , trait , alternate_id |
| 15129683 | CV711252 | single nucleotide variant | NM_004462.5(FDFT1):c.120G>C (p.Leu40=) | not provided [RCV000964299] | likely benign | 8 | 11808814 | 11808814 | Human | | name |
| 150439266 | CV1275108 | single nucleotide variant | NM_004462.5(FDFT1):c.631T>C (p.Leu211=) | Squalene synthase deficiency [RCV001703301]|not provided [RCV004713084] | benign | 8 | 11826144 | 11826144 | Human | 1 | name |
| 150439276 | CV1275109 | single nucleotide variant | NM_004462.5(FDFT1):c.972G>C (p.Leu324=) | FDFT1-related disorder [RCV003984074]|Squalene synthase deficiency [RCV001703302]|not provided [RCV004713085] | benign | 8 | 11831610 | 11831610 | Human | 1 | name , trait , alternate_id |
| 329353263 | CV2477046 | single nucleotide variant | NM_004462.5(FDFT1):c.852T>C (p.Ser284=) | not provided [RCV003223278] | likely benign | 8 | 11830393 | 11830393 | Human | | name |
| 401727235 | CV2736261 | single nucleotide variant | NM_004462.5(FDFT1):c.627G>A (p.Leu209=) | not provided [RCV003312709] | likely benign | 8 | 11826140 | 11826140 | Human | | name |
| 401925730 | CV2820900 | single nucleotide variant | NM_004462.5(FDFT1):c.954A>G (p.Lys318=) | FDFT1-related disorder [RCV003919221]|not provided [RCV003436742] | likely benign | 8 | 11831592 | 11831592 | Human | 1 | name , trait , alternate_id |
| 405266329 | CV3186616 | single nucleotide variant | NM_004462.5(FDFT1):c.912T>C (p.Tyr304=) | not provided [RCV003886697] | likely benign | 8 | 11831550 | 11831550 | Human | | name |
| 405281031 | CV3190774 | single nucleotide variant | NM_004462.5(FDFT1):c.804C>T (p.His268=) | FDFT1-related disorder [RCV003907208]|not provided [RCV004810574] | likely benign | 8 | 11830345 | 11830345 | Human | 1 | name , trait , alternate_id |
| 405288732 | CV3209861 | single nucleotide variant | NM_004462.5(FDFT1):c.747G>A (p.Pro249=) | FDFT1-related disorder [RCV003961362]|not provided [RCV004573440] | benign | 8 | 11830288 | 11830288 | Human | 1 | name , trait , alternate_id |
| 405287658 | CV3210728 | single nucleotide variant | NM_004462.5(FDFT1):c.483T>C (p.His161=) | FDFT1-related disorder [RCV003924486] | likely benign | 8 | 11821851 | 11821851 | Human | | name , trait , alternate_id |
| 408365816 | CV3510941 | single nucleotide variant | NM_004462.5(FDFT1):c.477T>C (p.Asp159=) | FDFT1-related disorder [RCV004755325] | likely benign | 8 | 11821845 | 11821845 | Human | | name , trait , alternate_id |
| 598128244 | CV3887443 | single nucleotide variant | NM_004462.5(FDFT1):c.366G>T (p.Leu122=) | not provided [RCV005243616] | likely benign | 8 | 11809835 | 11809835 | Human | | name |
| 15192811 | CV700364 | single nucleotide variant | NM_004462.5(FDFT1):c.459G>A (p.Gly153=) | FDFT1-related disorder [RCV003903274]|not provided [RCV000955183] | benign|likely benign | 8 | 11821827 | 11821827 | Human | 1 | name , trait , alternate_id |
| 126912791 | CV1037842 | single nucleotide variant | NM_004462.5(FDFT1):c.110G>A (p.Ser37Asn) | not provided [RCV001356799] | uncertain significance | 8 | 11808804 | 11808804 | Human | | name |
| 150435886 | CV1275107 | single nucleotide variant | NM_004462.5(FDFT1):c.134A>G (p.Lys45Arg) | FDFT1-related disorder [RCV003976035]|Squalene synthase deficiency [RCV001702192]|not provided [RCV004713083] | benign | 8 | 11808828 | 11808828 | Human | 5 | name , trait , alternate_id |
| 150435886 | CV1275107 | single nucleotide variant | NM_004462.5(FDFT1):c.134A>G (p.Lys45Arg) | FDFT1-related disorder [RCV003976035]|Squalene synthase deficiency [RCV001702192]|not provided [RCV004713083] | benign | 8 | 11808828 | 11808829 | Human | 5 | name , trait , alternate_id |
| 150529406 | CV1288966 | single nucleotide variant | NM_004462.5(FDFT1):c.129C>G (p.Cys43Trp) | not provided [RCV001727435] | uncertain significance | 8 | 11808823 | 11808823 | Human | | name |
| 156257201 | CV2369327 | single nucleotide variant | NM_004462.5(FDFT1):c.116G>C (p.Ser39Thr) | not specified [RCV004208232] | uncertain significance | 8 | 11808810 | 11808810 | Human | | name |
| 401749430 | CV2702965 | single nucleotide variant | NM_004462.5(FDFT1):c.295A>G (p.Asn99Asp) | not specified [RCV004321285] | uncertain significance | 8 | 11809764 | 11809764 | Human | | name |
| 401925729 | CV2820901 | single nucleotide variant | NM_004462.5(FDFT1):c.1104G>A (p.Thr368=) | not provided [RCV003436743] | likely benign | 8 | 11838459 | 11838459 | Human | | name |
| 405258789 | CV3215137 | single nucleotide variant | NM_004462.5(FDFT1):c.260C>G (p.Thr87Ser) | FDFT1-related disorder [RCV003942190] | likely benign | 8 | 11809729 | 11809729 | Human | | name , trait , alternate_id |
| 405743284 | CV3257050 | single nucleotide variant | NM_004462.5(FDFT1):c.143A>G (p.Asn48Ser) | not specified [RCV004391667] | uncertain significance | 8 | 11808837 | 11808837 | Human | | name |
| 596947815 | CV3547399 | single nucleotide variant | NM_004462.5(FDFT1):c.1098C>T (p.Ile366=) | not provided [RCV004811703] | likely benign | 8 | 11838453 | 11838453 | Human | | name |
| 597740451 | CV3676175 | single nucleotide variant | NM_004462.5(FDFT1):c.273A>C (p.Glu91Asp) | not specified [RCV004921469] | uncertain significance | 8 | 11809742 | 11809742 | Human | | name |
| 597740488 | CV3676183 | single nucleotide variant | NM_004462.5(FDFT1):c.178G>T (p.Ala60Ser) | not specified [RCV004921477] | uncertain significance | 8 | 11808872 | 11808872 | Human | | name |
| 598240212 | CV3959219 | single nucleotide variant | NM_004462.5(FDFT1):c.284C>G (p.Pro95Arg) | not specified [RCV005344149] | uncertain significance | 8 | 11809753 | 11809753 | Human | | name |
| 15101025 | CV700365 | single nucleotide variant | NM_004462.5(FDFT1):c.1197G>A (p.Gln399=) | FDFT1-related disorder [RCV003905795]|not provided [RCV000959005] | benign | 8 | 11838552 | 11838552 | Human | 1 | name , trait , alternate_id |
| 126742243 | CV1016992 | single nucleotide variant | NM_004462.5(FDFT1):c.670C>G (p.Gln224Glu) | Squalene synthase deficiency [RCV001329902] | uncertain significance | 8 | 11826183 | 11826183 | Human | 1 | name |
| 156332321 | CV2218300 | single nucleotide variant | NM_004462.5(FDFT1):c.810C>G (p.Ile270Met) | not specified [RCV004088487] | uncertain significance | 8 | 11830351 | 11830351 | Human | | name |
| 156194338 | CV2223339 | single nucleotide variant | NM_004462.5(FDFT1):c.755T>C (p.Ile252Thr) | not specified [RCV004105942] | uncertain significance | 8 | 11830296 | 11830296 | Human | | name |
| 156036526 | CV2243564 | single nucleotide variant | NM_004462.5(FDFT1):c.319C>T (p.Pro107Ser) | not specified [RCV004112516] | uncertain significance | 8 | 11809788 | 11809788 | Human | | name |
| 156300238 | CV2244876 | single nucleotide variant | NM_004462.5(FDFT1):c.308T>G (p.Phe103Cys) | not specified [RCV004104632] | uncertain significance | 8 | 11809777 | 11809777 | Human | | name |
| 156028217 | CV2278507 | single nucleotide variant | NM_004462.5(FDFT1):c.386C>A (p.Ser129Tyr) | not specified [RCV004132947] | uncertain significance | 8 | 11821754 | 11821754 | Human | | name |
| 156401841 | CV2371005 | single nucleotide variant | NM_004462.5(FDFT1):c.501G>C (p.Glu167Asp) | not specified [RCV004220772] | uncertain significance | 8 | 11821869 | 11821869 | Human | | name |
| 156387203 | CV2372675 | single nucleotide variant | NM_004462.5(FDFT1):c.740C>T (p.Ala247Val) | not specified [RCV004221872] | uncertain significance | 8 | 11830281 | 11830281 | Human | | name |
| 156208396 | CV2382496 | single nucleotide variant | NM_004462.5(FDFT1):c.784C>G (p.Leu262Val) | not specified [RCV004232835] | uncertain significance | 8 | 11830325 | 11830325 | Human | | name |
| 156103809 | CV2386926 | single nucleotide variant | NM_004462.5(FDFT1):c.380C>T (p.Thr127Met) | not specified [RCV004233556] | uncertain significance | 8 | 11809849 | 11809849 | Human | | name |
| 156266231 | CV2389145 | single nucleotide variant | NM_004462.5(FDFT1):c.608G>A (p.Arg203His) | FDFT1-related disorder [RCV003928939]|not specified [RCV004235475] | likely benign|uncertain significance | 8 | 11826121 | 11826121 | Human | 1 | name , trait , alternate_id |
| 155960710 | CV2390741 | single nucleotide variant | NM_004462.5(FDFT1):c.746C>T (p.Pro249Leu) | not specified [RCV004241032] | uncertain significance | 8 | 11830287 | 11830287 | Human | | name |
| 329385709 | CV2462232 | single nucleotide variant | NM_004462.5(FDFT1):c.746C>G (p.Pro249Arg) | not specified [RCV004266234] | uncertain significance | 8 | 11830287 | 11830287 | Human | | name |
| 401780643 | CV2727489 | single nucleotide variant | NM_004462.5(FDFT1):c.566C>T (p.Ala189Val) | not specified [RCV004329688] | uncertain significance | 8 | 11826079 | 11826079 | Human | | name |
| 401888514 | CV2757635 | single nucleotide variant | NM_004462.5(FDFT1):c.975G>A (p.Met325Ile) | not specified [RCV004334753] | uncertain significance | 8 | 11831613 | 11831613 | Human | | name |
| 404986629 | CV2852527 | single nucleotide variant | NM_004462.5(FDFT1):c.452G>A (p.Gly151Asp) | not specified [RCV003489742] | uncertain significance | 8 | 11821820 | 11821820 | Human | | name |
| 405261164 | CV3212437 | single nucleotide variant | NM_004462.5(FDFT1):c.930C>G (p.Phe310Leu) | FDFT1-related disorder [RCV003944412] | likely benign | 8 | 11831568 | 11831568 | Human | | name , trait , alternate_id |
| 405743291 | CV3257051 | single nucleotide variant | NM_004462.5(FDFT1):c.396T>G (p.Phe132Leu) | not specified [RCV004391668] | uncertain significance | 8 | 11821764 | 11821764 | Human | | name |
| 405743298 | CV3257052 | single nucleotide variant | NM_004462.5(FDFT1):c.435C>A (p.Asp145Glu) | not specified [RCV004391669] | uncertain significance | 8 | 11821803 | 11821803 | Human | | name |
| 405743306 | CV3257053 | single nucleotide variant | NM_004462.5(FDFT1):c.607C>G (p.Arg203Gly) | not specified [RCV004391670] | uncertain significance | 8 | 11826120 | 11826120 | Human | | name |
| 405743317 | CV3257054 | single nucleotide variant | NM_004462.5(FDFT1):c.619A>G (p.Met207Val) | not specified [RCV004391671] | uncertain significance | 8 | 11826132 | 11826132 | Human | | name |
| 405743323 | CV3257055 | single nucleotide variant | NM_004462.5(FDFT1):c.843A>C (p.Arg281Ser) | not specified [RCV004391672] | uncertain significance | 8 | 11830384 | 11830384 | Human | | name |
| 405743327 | CV3257056 | single nucleotide variant | NM_004462.5(FDFT1):c.919C>A (p.Gln307Lys) | not specified [RCV004391673] | uncertain significance | 8 | 11831557 | 11831557 | Human | | name |
| 407478987 | CV3438931 | single nucleotide variant | NM_004462.5(FDFT1):c.630T>A (p.Phe210Leu) | not specified [RCV004618574] | uncertain significance | 8 | 11826143 | 11826143 | Human | | name |
| 407478983 | CV3438932 | single nucleotide variant | NM_004462.5(FDFT1):c.364C>G (p.Leu122Val) | not specified [RCV004618575] | uncertain significance | 8 | 11809833 | 11809833 | Human | | name |
| 407478979 | CV3438933 | single nucleotide variant | NM_004462.5(FDFT1):c.994C>G (p.Pro332Ala) | not specified [RCV004618576] | uncertain significance | 8 | 11831632 | 11831632 | Human | | name |
| 407478975 | CV3438934 | single nucleotide variant | NM_004462.5(FDFT1):c.986C>T (p.Thr329Ile) | not specified [RCV004618577] | uncertain significance | 8 | 11831624 | 11831624 | Human | | name |
| 407478971 | CV3438935 | single nucleotide variant | NM_004462.5(FDFT1):c.993G>A (p.Met331Ile) | not specified [RCV004618578] | uncertain significance | 8 | 11831631 | 11831631 | Human | | name |
| 408365761 | CV3509612 | single nucleotide variant | NM_004462.5(FDFT1):c.305C>G (p.Ser102Cys) | FDFT1-related disorder [RCV004755235]|not provided [RCV004810708] | uncertain significance | 8 | 11809774 | 11809774 | Human | 1 | name , trait , alternate_id |
| 597740428 | CV3676170 | single nucleotide variant | NM_004462.5(FDFT1):c.914A>G (p.Asn305Ser) | not specified [RCV004921464] | uncertain significance | 8 | 11831552 | 11831552 | Human | | name |
| 597740432 | CV3676171 | single nucleotide variant | NM_004462.5(FDFT1):c.997G>T (p.Ala333Ser) | not specified [RCV004921465] | uncertain significance | 8 | 11831635 | 11831635 | Human | | name |
| 597740437 | CV3676172 | single nucleotide variant | NM_004462.5(FDFT1):c.615C>G (p.Asn205Lys) | not specified [RCV004921466] | uncertain significance | 8 | 11826128 | 11826128 | Human | | name |
| 597740445 | CV3676174 | single nucleotide variant | NM_004462.5(FDFT1):c.607C>T (p.Arg203Cys) | not specified [RCV004921468] | uncertain significance | 8 | 11826120 | 11826120 | Human | | name |
| 597740456 | CV3676176 | single nucleotide variant | NM_004462.5(FDFT1):c.519C>A (p.His173Gln) | not specified [RCV004921470] | uncertain significance | 8 | 11826032 | 11826032 | Human | | name |
| 597740466 | CV3676178 | single nucleotide variant | NM_004462.5(FDFT1):c.808A>T (p.Ile270Phe) | not specified [RCV004921472] | uncertain significance | 8 | 11830349 | 11830349 | Human | | name |
| 597740480 | CV3676181 | single nucleotide variant | NM_004462.5(FDFT1):c.430G>A (p.Ala144Thr) | not specified [RCV004921475] | uncertain significance | 8 | 11821798 | 11821798 | Human | | name |
| 597740484 | CV3676182 | single nucleotide variant | NM_004462.5(FDFT1):c.920A>G (p.Gln307Arg) | not specified [RCV004921476] | uncertain significance | 8 | 11831558 | 11831558 | Human | | name |
| 598240225 | CV3959221 | single nucleotide variant | NM_004462.5(FDFT1):c.715T>A (p.Tyr239Asn) | not specified [RCV005344151] | uncertain significance | 8 | 11830256 | 11830256 | Human | | name |
| 42723714 | CV984581 | single nucleotide variant | NM_004462.5(FDFT1):c.899T>A (p.Leu300Ter) | Squalene synthase deficiency [RCV001291717] | likely pathogenic | 8 | 11831537 | 11831537 | Human | 1 | name |
| 156206739 | CV2249980 | single nucleotide variant | NM_004462.5(FDFT1):c.1053C>G (p.Asp351Glu) | not specified [RCV004122947] | uncertain significance | 8 | 11838408 | 11838408 | Human | | name |
| 155932773 | CV2290870 | single nucleotide variant | NM_004462.5(FDFT1):c.1142A>C (p.His381Pro) | not specified [RCV004151152] | uncertain significance | 8 | 11838497 | 11838497 | Human | | name |
| 156083344 | CV2293031 | single nucleotide variant | NM_004462.5(FDFT1):c.1085T>C (p.Ile362Thr) | not specified [RCV004148503] | uncertain significance | 8 | 11838440 | 11838440 | Human | | name |
| 156326025 | CV2335400 | single nucleotide variant | NM_004462.5(FDFT1):c.1100G>A (p.Arg367Gln) | not specified [RCV004186954] | uncertain significance | 8 | 11838455 | 11838455 | Human | | name |
| 156338091 | CV2370565 | single nucleotide variant | NM_004462.5(FDFT1):c.1103C>T (p.Thr368Met) | not specified [RCV004215896] | uncertain significance | 8 | 11838458 | 11838458 | Human | | name |
| 156091103 | CV2389416 | single nucleotide variant | NM_004462.5(FDFT1):c.1230C>G (p.Asp410Glu) | not specified [RCV004238146] | uncertain significance | 8 | 11838585 | 11838585 | Human | | name |
| 401746991 | CV2698755 | single nucleotide variant | NM_004462.5(FDFT1):c.1143C>G (p.His381Gln) | not specified [RCV004301207] | uncertain significance | 8 | 11838498 | 11838498 | Human | | name |
| 405258465 | CV3203711 | single nucleotide variant | NM_004462.5(FDFT1):c.1251C>G (p.His417Gln) | FDFT1-related disorder [RCV003941898] | benign | 8 | 11838606 | 11838606 | Human | | name , trait , alternate_id |
| 405282490 | CV3212916 | single nucleotide variant | NM_004462.5(FDFT1):c.1106A>G (p.Gln369Arg) | FDFT1-related disorder [RCV003957035] | likely benign | 8 | 11838461 | 11838461 | Human | | name , trait , alternate_id |
| 405294898 | CV3214973 | single nucleotide variant | NM_004462.5(FDFT1):c.1067C>G (p.Ser356Cys) | FDFT1-related disorder [RCV003936830] | benign | 8 | 11838422 | 11838422 | Human | | name , trait , alternate_id |
| 405743272 | CV3257048 | single nucleotide variant | NM_004462.5(FDFT1):c.1111C>G (p.Leu371Val) | not specified [RCV004391665] | uncertain significance | 8 | 11838466 | 11838466 | Human | | name |
| 405743277 | CV3257049 | single nucleotide variant | NM_004462.5(FDFT1):c.1136G>A (p.Arg379Gln) | not specified [RCV004391666] | uncertain significance | 8 | 11838491 | 11838491 | Human | | name |
| 407478991 | CV3438930 | single nucleotide variant | NM_004462.5(FDFT1):c.1249C>T (p.His417Tyr) | not specified [RCV004618573] | uncertain significance | 8 | 11838604 | 11838604 | Human | | name |
| 597740423 | CV3676169 | single nucleotide variant | NM_004462.5(FDFT1):c.1071C>G (p.Ser357Arg) | not specified [RCV004921463] | uncertain significance | 8 | 11838426 | 11838426 | Human | | name |
| 597740461 | CV3676177 | single nucleotide variant | NM_004462.5(FDFT1):c.1205C>T (p.Thr402Ile) | not specified [RCV004921471] | uncertain significance | 8 | 11838560 | 11838560 | Human | | name |
| 597740470 | CV3676179 | single nucleotide variant | NM_004462.5(FDFT1):c.1153A>G (p.Ile385Val) | not specified [RCV004921473] | uncertain significance | 8 | 11838508 | 11838508 | Human | | name |
| 597740475 | CV3676180 | single nucleotide variant | NM_004462.5(FDFT1):c.1064C>T (p.Ser355Phe) | not specified [RCV004921474] | uncertain significance | 8 | 11838419 | 11838419 | Human | | name |
| 597740498 | CV3676185 | single nucleotide variant | NM_004462.5(FDFT1):c.1085T>A (p.Ile362Asn) | not specified [RCV004921479] | uncertain significance | 8 | 11838440 | 11838440 | Human | | name |
| 598240205 | CV3959218 | single nucleotide variant | NM_004462.5(FDFT1):c.1057G>T (p.Asp353Tyr) | not specified [RCV005344148] | uncertain significance | 8 | 11838412 | 11838412 | Human | | name |
| 598240219 | CV3959220 | single nucleotide variant | NM_004462.5(FDFT1):c.1154T>G (p.Ile385Ser) | not specified [RCV005344150] | uncertain significance | 8 | 11838509 | 11838509 | Human | | name |
| 13804111 | CV578311 | indel | NM_004462.5(FDFT1):c.880-24_880-23delinsAG | Squalene synthase deficiency [RCV000714474] | pathogenic|likely pathogenic | 8 | 11831494 | 11831495 | Human | | name |
| 401829863 | CV2744041 | insertion | NM_004462.5(FDFT1):c.100-86_100-85insCTCCCA | not provided [RCV003327197] | uncertain significance | 8 | 11808704 | 11808705 | Human | | name |
| 150529407 | CV1288967 | deletion | NM_004462.5(FDFT1):c.478_483del (p.Lys160_His161del) | not provided [RCV001727436] | uncertain significance | 8 | 11821844 | 11821849 | Human | | name |
