| 9481120 | CV153782 | variation | LZTFL1, LEU87PRO | BARDET-BIEDL SYNDROME 17 [RCV000133552] | pathogenic | | | | Human | | name |
| 9481121 | CV153783 | variation | LZTFL1, GLU260TER | BARDET-BIEDL SYNDROME 17 [RCV000133553] | pathogenic | | | | Human | | name |
| 597638278 | CV3717519 | single nucleotide variant | NM_020347.4(LZTFL1):c.4-2A>G | Bardet-Biedl syndrome 17 [RCV005024627] | likely pathogenic | 3 | 45838053 | 45838053 | Human | 1 | name |
| 597890451 | CV3804973 | single nucleotide variant | NM_020347.4(LZTFL1):c.4-9C>G | not provided [RCV005151235] | likely benign | 3 | 45838060 | 45838060 | Human | | name |
| 152119905 | CV1612147 | single nucleotide variant | NM_020347.4(LZTFL1):c.4-16C>T | not provided [RCV002135575] | likely benign | 3 | 45838067 | 45838067 | Human | | name |
| 150544027 | CV1304602 | single nucleotide variant | NM_020347.4(LZTFL1):c.324-3A>G | Bardet-Biedl syndrome 17 [RCV004564022]|not provided [RCV001771572] | uncertain significance | 3 | 45834301 | 45834301 | Human | 1 | name |
| 151348352 | CV1324002 | single nucleotide variant | NM_020347.4(LZTFL1):c.457-1G>T | Bardet-Biedl syndrome 17 [RCV001807914] | likely pathogenic | 3 | 45831139 | 45831139 | Human | 1 | name |
| 151819166 | CV1452767 | single nucleotide variant | NM_020347.4(LZTFL1):c.778-1G>A | not provided [RCV002029717] | likely pathogenic | 3 | 45827460 | 45827460 | Human | | name |
| 152060434 | CV1628153 | single nucleotide variant | NM_020347.4(LZTFL1):c.128+7G>A | not provided [RCV002190458] | likely benign | 3 | 45837920 | 45837920 | Human | | name |
| 152157244 | CV1629828 | single nucleotide variant | NM_020347.4(LZTFL1):c.601-5C>T | not provided [RCV002202805] | likely benign | 3 | 45828620 | 45828620 | Human | | name |
| 156285618 | CV2187136 | single nucleotide variant | NM_020347.4(LZTFL1):c.456+7T>C | not provided [RCV003044932] | likely benign | 3 | 45833043 | 45833043 | Human | | name |
| 402523662 | CV2900365 | single nucleotide variant | NM_020347.4(LZTFL1):c.384+9T>C | LZTFL1-related disorder [RCV004723380]|not provided [RCV003576048] | likely benign | 3 | 45834229 | 45834229 | Human | 1 | name , trait , alternate_id |
| 405150940 | CV3031292 | single nucleotide variant | NM_020347.4(LZTFL1):c.128+9G>A | not provided [RCV003703245] | likely benign | 3 | 45837918 | 45837918 | Human | | name |
| 405291125 | CV3222083 | single nucleotide variant | NM_020347.4(LZTFL1):c.778-3C>T | Bardet-Biedl syndrome 17 [RCV003984902] | uncertain significance | 3 | 45827462 | 45827462 | Human | 1 | name |
| 408376002 | CV3512009 | single nucleotide variant | NM_020347.4(LZTFL1):c.323+6A>C | Bardet-Biedl syndrome 17 [RCV005038807]|LZTFL1-related disorder [RCV004748414] | likely benign|uncertain significance | 3 | 45835584 | 45835584 | Human | 1 | name , trait , alternate_id |
| 408376392 | CV3513307 | single nucleotide variant | NM_020347.4(LZTFL1):c.456+6A>G | LZTFL1-related disorder [RCV004749066] | likely benign | 3 | 45833044 | 45833044 | Human | | name , trait , alternate_id |
| 408376574 | CV3514946 | single nucleotide variant | NM_020347.4(LZTFL1):c.457-4A>G | LZTFL1-related disorder [RCV004749290] | uncertain significance | 3 | 45831142 | 45831142 | Human | | name , trait , alternate_id |
| 597638257 | CV3717514 | single nucleotide variant | NM_020347.4(LZTFL1):c.523-1G>A | Bardet-Biedl syndrome 17 [RCV005024623] | likely pathogenic | 3 | 45830991 | 45830991 | Human | 1 | name |
| 597839441 | CV3737022 | single nucleotide variant | NM_020347.4(LZTFL1):c.882-8A>G | not provided [RCV005064502] | likely benign | 3 | 45826340 | 45826340 | Human | | name |
| 597855196 | CV3821772 | single nucleotide variant | NM_020347.4(LZTFL1):c.523-4A>G | not provided [RCV005174250] | likely benign | 3 | 45830994 | 45830994 | Human | | name |
| 597892944 | CV3833358 | single nucleotide variant | NM_020347.4(LZTFL1):c.522+9G>A | not provided [RCV005180050] | likely benign | 3 | 45831064 | 45831064 | Human | | name |
| 15160231 | CV759296 | single nucleotide variant | NM_020347.4(LZTFL1):c.522+9G>C | not provided [RCV000925442] | likely benign | 3 | 45831064 | 45831064 | Human | | name |
| 26902250 | CV851564 | single nucleotide variant | NM_020347.4(LZTFL1):c.324-7C>G | not provided [RCV001069209] | likely benign|uncertain significance | 3 | 45834305 | 45834305 | Human | | name |
| 38489430 | CV940752 | deletion | NM_020347.4(LZTFL1):c.385-2del | not provided [RCV001221694] | likely pathogenic | 3 | 45833123 | 45833123 | Human | | name |
| 127241318 | CV1092506 | single nucleotide variant | NM_020347.4(LZTFL1):c.881+19G>A | Bardet-Biedl syndrome 17 [RCV002501533]|not provided [RCV001434385] | likely benign | 3 | 45827337 | 45827337 | Human | 1 | name |
| 127237410 | CV1092507 | single nucleotide variant | NM_020347.4(LZTFL1):c.385-16C>G | not provided [RCV001433525] | likely benign | 3 | 45833137 | 45833137 | Human | | name |
| 127299552 | CV1154476 | single nucleotide variant | NM_020347.4(LZTFL1):c.881+18C>T | Bardet-Biedl syndrome 17 [RCV002495797]|not provided [RCV001513740] | benign|likely benign | 3 | 45827338 | 45827338 | Human | 1 | name |
| 127316164 | CV1154477 | single nucleotide variant | NM_020347.4(LZTFL1):c.881+16C>T | Bardet-Biedl syndrome 17 [RCV002501827]|not provided [RCV001520348] | benign|likely benign | 3 | 45827340 | 45827340 | Human | 1 | name |
| 127322510 | CV1154480 | single nucleotide variant | NM_020347.4(LZTFL1):c.128+13G>A | Bardet-Biedl syndrome 17 [RCV002476832]|not provided [RCV001523543] | benign|likely benign | 3 | 45837914 | 45837914 | Human | 1 | name |
| 152175200 | CV1520754 | single nucleotide variant | NM_020347.4(LZTFL1):c.882-10A>G | LZTFL1-related disorder [RCV004749841]|not provided [RCV002184776] | likely benign | 3 | 45826342 | 45826342 | Human | 1 | name , trait , alternate_id |
| 152171671 | CV1521238 | single nucleotide variant | NM_020347.4(LZTFL1):c.384+12G>T | Bardet-Biedl syndrome 17 [RCV002494448]|not provided [RCV002143521] | benign|likely benign | 3 | 45834226 | 45834226 | Human | 1 | name |
| 152051034 | CV1521250 | deletion | NM_020347.4(LZTFL1):c.128+13del | Bardet-Biedl syndrome 17 [RCV002500289]|not provided [RCV002145693] | likely benign | 3 | 45837914 | 45837914 | Human | 1 | name |
| 152029826 | CV1565804 | single nucleotide variant | NM_020347.4(LZTFL1):c.601-16C>T | not provided [RCV002085936] | likely benign | 3 | 45828631 | 45828631 | Human | | name |
| 152172417 | CV1575828 | single nucleotide variant | NM_020347.4(LZTFL1):c.384+20A>G | not provided [RCV002183832] | likely benign | 3 | 45834218 | 45834218 | Human | | name |
| 152170688 | CV1592536 | single nucleotide variant | NM_020347.4(LZTFL1):c.128+12G>A | not provided [RCV002161854] | likely benign | 3 | 45837915 | 45837915 | Human | | name |
| 152165596 | CV1611394 | single nucleotide variant | NM_020347.4(LZTFL1):c.456+14T>A | not provided [RCV002141750] | likely benign | 3 | 45833036 | 45833036 | Human | | name |
| 152026128 | CV1666218 | single nucleotide variant | NM_020347.4(LZTFL1):c.881+19G>T | not provided [RCV002084696] | likely benign | 3 | 45827337 | 45827337 | Human | | name |
| 156154450 | CV1926100 | single nucleotide variant | NM_020347.4(LZTFL1):c.129-10T>G | LZTFL1-related disorder [RCV004750293]|not provided [RCV002624127] | likely benign|uncertain significance | 3 | 45835794 | 45835794 | Human | 1 | name , trait , alternate_id |
| 156146996 | CV1954381 | single nucleotide variant | NM_020347.4(LZTFL1):c.323+20C>T | not provided [RCV002572774] | likely benign | 3 | 45835570 | 45835570 | Human | | name |
| 156230656 | CV1959160 | single nucleotide variant | NM_020347.4(LZTFL1):c.601-15A>G | not provided [RCV002596796] | likely benign | 3 | 45828630 | 45828630 | Human | | name |
| 156175176 | CV1968569 | single nucleotide variant | NM_020347.4(LZTFL1):c.522+13T>C | not provided [RCV002594894] | likely benign | 3 | 45831060 | 45831060 | Human | | name |
| 156360794 | CV2016633 | single nucleotide variant | NM_020347.4(LZTFL1):c.129-16C>T | not provided [RCV002720846] | likely benign | 3 | 45835800 | 45835800 | Human | | name |
| 156020134 | CV2019302 | single nucleotide variant | NM_020347.4(LZTFL1):c.128+18T>C | not provided [RCV002690960] | likely benign | 3 | 45837909 | 45837909 | Human | | name |
| 155976939 | CV2085295 | single nucleotide variant | NM_020347.4(LZTFL1):c.600+10G>A | not provided [RCV002863577] | likely benign | 3 | 45830903 | 45830903 | Human | | name |
| 155994088 | CV2145772 | single nucleotide variant | NM_020347.4(LZTFL1):c.129-14T>C | not provided [RCV002996705] | likely benign | 3 | 45835798 | 45835798 | Human | | name |
| 156206456 | CV2160162 | single nucleotide variant | NM_020347.4(LZTFL1):c.128+10G>A | not provided [RCV003042167] | likely benign | 3 | 45837917 | 45837917 | Human | | name |
| 405176443 | CV3119306 | single nucleotide variant | NM_020347.4(LZTFL1):c.523-11C>T | not provided [RCV003819591] | likely benign | 3 | 45831001 | 45831001 | Human | | name |
| 405215434 | CV3143183 | single nucleotide variant | NM_020347.4(LZTFL1):c.129-12G>A | not provided [RCV003846346] | likely benign | 3 | 45835796 | 45835796 | Human | | name |
| 405147857 | CV3152139 | single nucleotide variant | NM_020347.4(LZTFL1):c.323+20C>G | not provided [RCV003856110] | likely benign | 3 | 45835570 | 45835570 | Human | | name |
| 408377201 | CV3507349 | single nucleotide variant | NM_020347.4(LZTFL1):c.882-10A>C | LZTFL1-related disorder [RCV004750521] | likely benign | 3 | 45826342 | 45826342 | Human | | name , trait , alternate_id |
| 597638246 | CV3717512 | single nucleotide variant | NM_020347.4(LZTFL1):c.601-20C>T | Bardet-Biedl syndrome 17 [RCV005024621]|not provided [RCV005112825] | likely benign|uncertain significance | 3 | 45828635 | 45828635 | Human | 1 | name |
| 597638268 | CV3717517 | single nucleotide variant | NM_020347.4(LZTFL1):c.129-13G>T | Bardet-Biedl syndrome 17 [RCV005024625] | uncertain significance | 3 | 45835797 | 45835797 | Human | 1 | name |
| 597849050 | CV3793042 | single nucleotide variant | NM_020347.4(LZTFL1):c.456+10T>C | not provided [RCV005145178] | likely benign | 3 | 45833040 | 45833040 | Human | | name |
| 597968435 | CV3795009 | single nucleotide variant | NM_020347.4(LZTFL1):c.882-18C>T | not provided [RCV005140977] | likely benign | 3 | 45826350 | 45826350 | Human | | name |
| 597915570 | CV3814603 | single nucleotide variant | NM_020347.4(LZTFL1):c.601-11A>G | not provided [RCV005154918] | likely benign | 3 | 45828626 | 45828626 | Human | | name |
| 597976439 | CV3829589 | single nucleotide variant | NM_020347.4(LZTFL1):c.882-13T>C | not provided [RCV005169856] | likely benign | 3 | 45826345 | 45826345 | Human | | name |
| 597974929 | CV3832125 | single nucleotide variant | NM_020347.4(LZTFL1):c.601-18T>A | not provided [RCV005168861] | likely benign | 3 | 45828633 | 45828633 | Human | | name |
| 401904678 | CV2797442 | single nucleotide variant | NM_001276379.2(LZTFL1):c.28-5T>G | LZTFL1-related disorder [RCV003427871] | uncertain significance | 3 | 45855079 | 45855079 | Human | | name , trait , alternate_id |
| 408379853 | CV3515532 | single nucleotide variant | NM_001276379.2(LZTFL1):c.28-10C>A | LZTFL1-related disorder [RCV004749370] | likely benign | 3 | 45855084 | 45855084 | Human | | name , trait , alternate_id |
| 597831718 | CV3759791 | microsatellite | NM_020347.4(LZTFL1):c.456+6ATT[2] | not provided [RCV005084729] | likely benign | 3 | 45833036 | 45833038 | Human | | name |
| 597638284 | CV3717520 | microsatellite | NM_020347.4(LZTFL1):c.4-13_4-12del | Bardet-Biedl syndrome 17 [RCV005024628] | uncertain significance | 3 | 45838063 | 45838064 | Human | | name |
| 402481724 | CV3041671 | microsatellite | NM_020347.4(LZTFL1):c.777+7_777+9del | LZTFL1-related disorder [RCV004750412]|not provided [RCV003712926] | likely benign | 3 | 45828430 | 45828432 | Human | | name , trait , alternate_id |
| 152174801 | CV1520460 | deletion | NM_020347.4(LZTFL1):c.385-12_385-8del | not provided [RCV002184638] | likely benign | 3 | 45833129 | 45833133 | Human | | name |
| 156121955 | CV2147977 | single nucleotide variant | NM_020347.4(LZTFL1):c.12G>A (p.Leu4=) | not provided [RCV003003017] | likely benign | 3 | 45838043 | 45838043 | Human | | name |
| 127300791 | CV1114028 | single nucleotide variant | NM_020347.4(LZTFL1):c.48T>C (p.Asn16=) | not provided [RCV001478485] | likely benign | 3 | 45838007 | 45838007 | Human | | name |
| 151871814 | CV1470514 | insertion | NM_020347.4(LZTFL1):c.384+5_384+6insCC | not provided [RCV001925320] | uncertain significance | 3 | 45834232 | 45834233 | Human | | name |
| 152147262 | CV1635606 | deletion | NM_020347.4(LZTFL1):c.385-16_385-13del | not provided [RCV002201420] | likely benign | 3 | 45833134 | 45833137 | Human | | name |
| 156120167 | CV1969135 | single nucleotide variant | NM_020347.4(LZTFL1):c.69A>G (p.Ser23=) | not provided [RCV002593097] | likely benign | 3 | 45837986 | 45837986 | Human | | name |
| 13437306 | CV263836 | single nucleotide variant | NM_001276378.2(LZTFL1):c.-138+18184C>A | Hirschsprung disease, susceptibility to, 1 [RCV000508657] | uncertain significance | 3 | 45894936 | 45894936 | Human | 1 | name |
| 405224810 | CV3168847 | single nucleotide variant | NM_020347.4(LZTFL1):c.42T>C (p.Val14=) | LZTFL1-related disorder [RCV003949071]|not provided [RCV003864062] | likely benign | 3 | 45838013 | 45838013 | Human | 1 | name , trait , alternate_id |
| 597947811 | CV3818169 | single nucleotide variant | NM_020347.4(LZTFL1):c.1A>G (p.Met1Val) | not provided [RCV005160430] | uncertain significance | 3 | 45841991 | 45841991 | Human | | name |
| 126914663 | CV1042260 | single nucleotide variant | NM_020347.4(LZTFL1):c.198T>C (p.His66=) | LZTFL1-related disorder [RCV004749667]|not provided [RCV001359618] | likely benign|uncertain significance | 3 | 45835715 | 45835715 | Human | 1 | name , trait , alternate_id |
| 127245019 | CV1070839 | single nucleotide variant | NM_020347.4(LZTFL1):c.243G>T (p.Val81=) | not provided [RCV001416428] | likely benign | 3 | 45835670 | 45835670 | Human | | name |
| 156062245 | CV2057441 | single nucleotide variant | NM_020347.4(LZTFL1):c.261G>T (p.Leu87=) | not provided [RCV002797140] | likely benign | 3 | 45835652 | 45835652 | Human | | name |
| 405150891 | CV2959752 | single nucleotide variant | NM_020347.4(LZTFL1):c.180A>T (p.Gly60=) | not provided [RCV003674003] | likely benign | 3 | 45835733 | 45835733 | Human | | name |
| 405268674 | CV3201058 | single nucleotide variant | NM_020347.4(LZTFL1):c.231C>G (p.Ala77=) | LZTFL1-related disorder [RCV003899168] | likely benign | 3 | 45835682 | 45835682 | Human | | name , trait , alternate_id |
| 408379850 | CV3514677 | single nucleotide variant | NM_001276379.2(LZTFL1):c.6G>A (p.Arg2=) | LZTFL1-related disorder [RCV004749258] | likely benign | 3 | 45913141 | 45913141 | Human | | name , trait , alternate_id |
| 597968912 | CV3791147 | single nucleotide variant | NM_020347.4(LZTFL1):c.105C>T (p.Cys35=) | not provided [RCV005141179] | likely benign | 3 | 45837950 | 45837950 | Human | | name |
| 597927429 | CV3855506 | single nucleotide variant | NM_020347.4(LZTFL1):c.132G>C (p.Leu44=) | not provided [RCV005206105] | likely benign | 3 | 45835781 | 45835781 | Human | | name |
| 598182857 | CV3981479 | single nucleotide variant | NM_020347.4(LZTFL1):c.11T>G (p.Leu4Trp) | Inborn genetic diseases [RCV005372817] | uncertain significance | 3 | 45838044 | 45838044 | Human | 1 | name |
| 126761128 | CV1004784 | single nucleotide variant | NM_020347.4(LZTFL1):c.56G>A (p.Arg19His) | Bardet-Biedl syndrome 17 [RCV002476487]|LZTFL1-related disorder [RCV003963213]|not provided [RCV001318545] | uncertain significance | 3 | 45837999 | 45837999 | Human | 1 | name , trait , alternate_id |
| 127246500 | CV1070838 | single nucleotide variant | NM_020347.4(LZTFL1):c.490T>C (p.Leu164=) | not provided [RCV001394113] | likely benign | 3 | 45831105 | 45831105 | Human | | name |
| 127297741 | CV1114027 | single nucleotide variant | NM_020347.4(LZTFL1):c.333A>G (p.Leu111=) | not provided [RCV001453126] | likely benign | 3 | 45834289 | 45834289 | Human | | name |
| 127334252 | CV1134910 | single nucleotide variant | NM_020347.4(LZTFL1):c.867G>A (p.Arg289=) | not provided [RCV001490720] | likely benign | 3 | 45827370 | 45827370 | Human | | name |
| 127331103 | CV1134911 | single nucleotide variant | NM_020347.4(LZTFL1):c.735C>T (p.His245=) | LZTFL1-related disorder [RCV003921026]|not provided [RCV001488602] | likely benign | 3 | 45828481 | 45828481 | Human | 1 | name , trait , alternate_id |
| 127322465 | CV1134912 | single nucleotide variant | NM_020347.4(LZTFL1):c.648T>C (p.Ala216=) | not provided [RCV001484941] | likely benign | 3 | 45828568 | 45828568 | Human | | name |
| 151804948 | CV1429814 | single nucleotide variant | NM_020347.4(LZTFL1):c.55C>T (p.Arg19Cys) | not provided [RCV001974251] | uncertain significance | 3 | 45838000 | 45838000 | Human | | name |
| 151737051 | CV1463709 | single nucleotide variant | NM_020347.4(LZTFL1):c.55C>A (p.Arg19Ser) | Bardet-Biedl syndrome 17 [RCV002468345]|Inborn genetic diseases [RCV004041767]|not provided [RCV001911525] | uncertain significance | 3 | 45838000 | 45838000 | Human | 2 | name |
| 151809729 | CV1497105 | single nucleotide variant | NM_020347.4(LZTFL1):c.30T>G (p.His10Gln) | not provided [RCV001974655] | uncertain significance | 3 | 45838025 | 45838025 | Human | | name |
| 152037849 | CV1524980 | single nucleotide variant | NM_020347.4(LZTFL1):c.792A>G (p.Lys264=) | not provided [RCV002165242] | likely benign | 3 | 45827445 | 45827445 | Human | | name |
| 152037472 | CV1534495 | single nucleotide variant | NM_020347.4(LZTFL1):c.675A>G (p.Thr225=) | LZTFL1-related disorder [RCV004749850]|not provided [RCV002107233] | likely benign | 3 | 45828541 | 45828541 | Human | 1 | name , trait , alternate_id |
| 152077353 | CV1560754 | single nucleotide variant | NM_020347.4(LZTFL1):c.645C>T (p.Val215=) | Bardet-Biedl syndrome 17 [RCV005032160]|LZTFL1-related disorder [RCV004749853]|not provided [RCV002112286] | likely benign|uncertain significance | 3 | 45828571 | 45828571 | Human | 1 | name , trait , alternate_id |
| 152168902 | CV1626415 | single nucleotide variant | NM_020347.4(LZTFL1):c.723G>A (p.Ala241=) | not provided [RCV002182607] | likely benign | 3 | 45828493 | 45828493 | Human | | name |
| 152114603 | CV1651324 | single nucleotide variant | NM_020347.4(LZTFL1):c.331T>C (p.Leu111=) | not provided [RCV002153494] | likely benign | 3 | 45834291 | 45834291 | Human | | name |
| 152064820 | CV1654365 | single nucleotide variant | NM_020347.4(LZTFL1):c.654A>G (p.Leu218=) | not provided [RCV002191008] | likely benign | 3 | 45828562 | 45828562 | Human | | name |
| 156405133 | CV1994242 | single nucleotide variant | NM_020347.4(LZTFL1):c.65G>A (p.Arg22His) | not provided [RCV002658230] | uncertain significance | 3 | 45837990 | 45837990 | Human | | name |
| 156015778 | CV2010194 | single nucleotide variant | NM_020347.4(LZTFL1):c.726A>G (p.Thr242=) | not provided [RCV002735133] | likely benign | 3 | 45828490 | 45828490 | Human | | name |
| 156125222 | CV2031069 | single nucleotide variant | NM_020347.4(LZTFL1):c.303C>T (p.Asp101=) | LZTFL1-related disorder [RCV003936297]|not provided [RCV002740354] | likely benign | 3 | 45835610 | 45835610 | Human | 1 | name , trait , alternate_id |
| 156289559 | CV2068759 | single nucleotide variant | NM_020347.4(LZTFL1):c.555A>G (p.Leu185=) | not provided [RCV002856694] | likely benign | 3 | 45830958 | 45830958 | Human | | name |
| 155948258 | CV2068964 | single nucleotide variant | NM_020347.4(LZTFL1):c.843G>A (p.Lys281=) | not provided [RCV002862203] | likely benign|uncertain significance | 3 | 45827394 | 45827394 | Human | | name |
| 156342334 | CV2103423 | single nucleotide variant | NM_020347.4(LZTFL1):c.44T>C (p.Ile15Thr) | not provided [RCV002900547] | uncertain significance | 3 | 45838011 | 45838011 | Human | | name |
| 156181820 | CV2167602 | single nucleotide variant | NM_020347.4(LZTFL1):c.783A>G (p.Leu261=) | not provided [RCV003023851] | likely benign | 3 | 45827454 | 45827454 | Human | | name |
| 156034600 | CV2182414 | single nucleotide variant | NM_020347.4(LZTFL1):c.360A>G (p.Ala120=) | not provided [RCV003036327] | likely benign | 3 | 45834262 | 45834262 | Human | | name |
| 405093752 | CV2947217 | single nucleotide variant | NM_020347.4(LZTFL1):c.384G>A (p.Lys128=) | not provided [RCV003665474] | likely pathogenic | 3 | 45834238 | 45834238 | Human | | name |
| 405287692 | CV3210762 | single nucleotide variant | NM_020347.4(LZTFL1):c.363G>A (p.Glu121=) | LZTFL1-related disorder [RCV003924515] | likely benign | 3 | 45834259 | 45834259 | Human | | name , trait , alternate_id |
| 408377222 | CV3507538 | single nucleotide variant | NM_020347.4(LZTFL1):c.396T>C (p.Asp132=) | LZTFL1-related disorder [RCV004750550] | likely benign | 3 | 45833110 | 45833110 | Human | | name , trait , alternate_id |
| 408375972 | CV3511262 | single nucleotide variant | NM_020347.4(LZTFL1):c.894A>G (p.Glu298=) | LZTFL1-related disorder [RCV004748327] | likely benign | 3 | 45826320 | 45826320 | Human | | name , trait , alternate_id |
| 408376415 | CV3513558 | single nucleotide variant | NM_020347.4(LZTFL1):c.324A>G (p.Arg108=) | Bardet-Biedl syndrome 17 [RCV005038811]|LZTFL1-related disorder [RCV004749100] | likely benign|uncertain significance | 3 | 45834298 | 45834298 | Human | 1 | name , trait , alternate_id |
| 408376541 | CV3514664 | deletion | NM_020347.4(LZTFL1):c.264del (p.Phe88fs) | LZTFL1-related disorder [RCV004749255]|not provided [RCV005059874] | pathogenic|likely pathogenic | 3 | 45835649 | 45835649 | Human | 1 | name , trait , alternate_id |
| 408376591 | CV3514741 | single nucleotide variant | NM_020347.4(LZTFL1):c.324A>C (p.Arg108=) | LZTFL1-related disorder [RCV004749266] | likely benign | 3 | 45834298 | 45834298 | Human | | name , trait , alternate_id |
| 408376613 | CV3515216 | single nucleotide variant | NM_020347.4(LZTFL1):c.675A>T (p.Thr225=) | LZTFL1-related disorder [RCV004749329] | likely benign | 3 | 45828541 | 45828541 | Human | | name , trait , alternate_id |
| 408376731 | CV3515917 | single nucleotide variant | NM_020347.4(LZTFL1):c.429A>G (p.Glu143=) | LZTFL1-related disorder [RCV004749411] | likely benign | 3 | 45833077 | 45833077 | Human | | name , trait , alternate_id |
| 597638274 | CV3717518 | single nucleotide variant | NM_020347.4(LZTFL1):c.83G>A (p.Arg28Lys) | Bardet-Biedl syndrome 17 [RCV005024626] | uncertain significance | 3 | 45837972 | 45837972 | Human | 1 | name |
| 597902370 | CV3779245 | single nucleotide variant | NM_020347.4(LZTFL1):c.819C>T (p.Asn273=) | not provided [RCV005127322] | likely benign | 3 | 45827418 | 45827418 | Human | | name |
| 597947380 | CV3817891 | single nucleotide variant | NM_020347.4(LZTFL1):c.510C>T (p.Thr170=) | not provided [RCV005160358] | likely benign | 3 | 45831085 | 45831085 | Human | | name |
| 597970155 | CV3821961 | single nucleotide variant | NM_020347.4(LZTFL1):c.399C>T (p.Val133=) | not provided [RCV005166424] | likely benign | 3 | 45833107 | 45833107 | Human | | name |
| 597910315 | CV3830175 | single nucleotide variant | NM_020347.4(LZTFL1):c.804A>G (p.Thr268=) | not provided [RCV005182745] | likely benign | 3 | 45827433 | 45827433 | Human | | name |
| 598163975 | CV3981481 | single nucleotide variant | NM_020347.4(LZTFL1):c.99T>A (p.Asp33Glu) | Inborn genetic diseases [RCV005368916] | uncertain significance | 3 | 45837956 | 45837956 | Human | 1 | name |
| 13529308 | CV513536 | single nucleotide variant | NM_020347.4(LZTFL1):c.64C>T (p.Arg22Cys) | Bardet-Biedl syndrome 17 [RCV000626299] | uncertain significance | 3 | 45837991 | 45837991 | Human | 1 | name |
| 15117609 | CV748279 | single nucleotide variant | NM_020347.4(LZTFL1):c.420A>G (p.Pro140=) | LZTFL1-related disorder [RCV003895580]|not provided [RCV000917825] | likely benign | 3 | 45833086 | 45833086 | Human | 1 | name , trait , alternate_id |
| 15200721 | CV748280 | single nucleotide variant | NM_020347.4(LZTFL1):c.414T>G (p.Leu138=) | not provided [RCV000912926] | likely benign | 3 | 45833092 | 45833092 | Human | | name |
| 126773694 | CV1025314 | single nucleotide variant | NM_020347.4(LZTFL1):c.169G>A (p.Val57Ile) | Inborn genetic diseases [RCV003382544]|not provided [RCV001346370] | uncertain significance | 3 | 45835744 | 45835744 | Human | 1 | name |
| 8654403 | CV131913 | single nucleotide variant | NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro) | Bardet-Biedl syndrome 1 [RCV000114319]|Bardet-Biedl syndrome 17 [RCV000133552] | pathogenic|not provided | 3 | 45835653 | 45835653 | Human | 2 | name |
| 151877982 | CV1368961 | single nucleotide variant | NM_020347.4(LZTFL1):c.241G>A (p.Val81Met) | not provided [RCV001999173] | uncertain significance | 3 | 45835672 | 45835672 | Human | | name |
| 151816298 | CV1378906 | single nucleotide variant | NM_020347.4(LZTFL1):c.155A>T (p.Asp52Val) | LZTFL1-related disorder [RCV003401812]|not provided [RCV001900445] | uncertain significance | 3 | 45835758 | 45835758 | Human | 1 | name , trait , alternate_id |
| 151843517 | CV1418483 | single nucleotide variant | NM_020347.4(LZTFL1):c.239A>G (p.Asn80Ser) | not provided [RCV001903139] | uncertain significance | 3 | 45835674 | 45835674 | Human | | name |
| 151769857 | CV1451057 | single nucleotide variant | NM_020347.4(LZTFL1):c.281G>C (p.Trp94Ser) | Bardet-Biedl syndrome 17 [RCV002503637]|not provided [RCV001929412] | uncertain significance | 3 | 45835632 | 45835632 | Human | 1 | name |
| 151861746 | CV1474079 | single nucleotide variant | NM_020347.4(LZTFL1):c.233A>G (p.Tyr78Cys) | LZTFL1-related disorder [RCV004749768]|not provided [RCV001884006] | uncertain significance | 3 | 45835680 | 45835680 | Human | 1 | name , trait , alternate_id |
| 155707961 | CV1778455 | single nucleotide variant | NM_020347.4(LZTFL1):c.188C>T (p.Ala63Val) | not provided [RCV002296057] | uncertain significance | 3 | 45835725 | 45835725 | Human | | name |
| 155747172 | CV1778456 | single nucleotide variant | NM_020347.4(LZTFL1):c.151A>C (p.Ile51Leu) | not provided [RCV002303629] | uncertain significance | 3 | 45835762 | 45835762 | Human | | name |
| 156091306 | CV2016396 | single nucleotide variant | NM_020347.4(LZTFL1):c.256C>T (p.Gln86Ter) | not provided [RCV002706323] | pathogenic | 3 | 45835657 | 45835657 | Human | | name |
| 156167729 | CV2041373 | single nucleotide variant | NM_020347.4(LZTFL1):c.254G>T (p.Arg85Leu) | Bardet-Biedl syndrome 17 [RCV005027942]|LZTFL1-related disorder [RCV004725367]|not provided [RCV002741766] | uncertain significance | 3 | 45835659 | 45835659 | Human | 1 | name , trait , alternate_id |
| 156217058 | CV2070710 | single nucleotide variant | NM_020347.4(LZTFL1):c.266C>T (p.Ala89Val) | not provided [RCV002829539] | uncertain significance | 3 | 45835647 | 45835647 | Human | | name |
| 156014078 | CV2103878 | duplication | NM_020347.4(LZTFL1):c.606dup (p.Ile203fs) | not provided [RCV002909270] | pathogenic | 3 | 45828609 | 45828610 | Human | | name |
| 329351399 | CV2476294 | duplication | NM_020347.4(LZTFL1):c.415dup (p.Ala139fs) | Bardet-Biedl syndrome [RCV003222535] | pathogenic | 3 | 45833090 | 45833091 | Human | 1 | name |
| 401724109 | CV2737978 | single nucleotide variant | NM_020347.4(LZTFL1):c.253C>T (p.Arg85Ter) | Bardet-Biedl syndrome 17 [RCV003315150]|not provided [RCV005061262] | pathogenic|likely pathogenic | 3 | 45835660 | 45835660 | Human | 1 | name |
| 402521619 | CV2867450 | single nucleotide variant | NM_020347.4(LZTFL1):c.109C>T (p.Gln37Ter) | not provided [RCV003547803] | pathogenic | 3 | 45837946 | 45837946 | Human | | name |
| 402498843 | CV2926637 | single nucleotide variant | NM_020347.4(LZTFL1):c.233A>C (p.Tyr78Ser) | not provided [RCV003573781] | uncertain significance | 3 | 45835680 | 45835680 | Human | | name |
| 405271281 | CV3189468 | single nucleotide variant | NM_001276379.2(LZTFL1):c.66C>T (p.His22=) | LZTFL1-related disorder [RCV003896702] | likely benign | 3 | 45855036 | 45855036 | Human | | name , trait , alternate_id |
| 405279465 | CV3193207 | single nucleotide variant | NM_001276379.2(LZTFL1):c.36G>A (p.Gln12=) | LZTFL1-related disorder [RCV003974373] | likely benign | 3 | 45855066 | 45855066 | Human | | name , trait , alternate_id |
| 405816113 | CV3281068 | single nucleotide variant | NM_020347.4(LZTFL1):c.166G>A (p.Glu56Lys) | Inborn genetic diseases [RCV004411122] | uncertain significance | 3 | 45835747 | 45835747 | Human | 1 | name |
| 408379812 | CV3509342 | single nucleotide variant | NM_001276379.2(LZTFL1):c.1A>T (p.Met1Leu) | LZTFL1-related disorder [RCV004748078] | uncertain significance | 3 | 45913146 | 45913146 | Human | | name , trait , alternate_id |
| 408376120 | CV3512163 | single nucleotide variant | NM_020347.4(LZTFL1):c.289A>G (p.Lys97Glu) | Bardet-Biedl syndrome 17 [RCV005038808]|LZTFL1-related disorder [RCV004748436] | uncertain significance | 3 | 45835624 | 45835624 | Human | 1 | name , trait , alternate_id |
| 13521377 | CV495195 | single nucleotide variant | NM_020347.4(LZTFL1):c.214G>T (p.Glu72Ter) | not provided [RCV000599402] | likely pathogenic | 3 | 45835699 | 45835699 | Human | | name |
| 25319037 | CV816449 | single nucleotide variant | NM_001276379.2(LZTFL1):c.3G>A (p.Met1Ile) | Bardet-Biedl syndrome 17 [RCV001028045]|LZTFL1-related disorder [RCV004749586] | likely pathogenic|uncertain significance | 3 | 45913144 | 45913144 | Human | 1 | name , trait , alternate_id |
| 38481075 | CV943570 | single nucleotide variant | NM_020347.4(LZTFL1):c.143C>T (p.Thr48Ile) | not provided [RCV001234961] | uncertain significance | 3 | 45835770 | 45835770 | Human | | name |
| 38497030 | CV953494 | single nucleotide variant | NM_020347.4(LZTFL1):c.176A>G (p.Asn59Ser) | not provided [RCV001242931] | uncertain significance | 3 | 45835737 | 45835737 | Human | | name |
| 38491494 | CV953495 | single nucleotide variant | NM_020347.4(LZTFL1):c.104G>T (p.Cys35Phe) | not provided [RCV001239485] | uncertain significance | 3 | 45837951 | 45837951 | Human | | name |
| 126750090 | CV1004778 | single nucleotide variant | NM_020347.4(LZTFL1):c.812A>G (p.Tyr271Cys) | Bardet-Biedl syndrome 17 [RCV002476536]|not provided [RCV001326663] | uncertain significance | 3 | 45827425 | 45827425 | Human | 1 | name |
| 126757356 | CV1004779 | single nucleotide variant | NM_020347.4(LZTFL1):c.625A>T (p.Ser209Cys) | Bardet-Biedl syndrome 17 [RCV005023028]|Inborn genetic diseases [RCV004987066]|LZTFL1-related disorder [RCV004749655]|not provided [RCV001317467] | uncertain significance | 3 | 45828591 | 45828591 | Human | 2 | name , trait , alternate_id |
| 126770736 | CV1004780 | single nucleotide variant | NM_020347.4(LZTFL1):c.454A>G (p.Lys152Glu) | LZTFL1-related disorder [RCV003399105]|not provided [RCV001322751] | uncertain significance | 3 | 45833052 | 45833052 | Human | 1 | name , trait , alternate_id |
| 126761550 | CV1004781 | single nucleotide variant | NM_020347.4(LZTFL1):c.422T>C (p.Leu141Pro) | not provided [RCV001318672] | uncertain significance | 3 | 45833084 | 45833084 | Human | | name |
| 126737378 | CV1004782 | single nucleotide variant | NM_020347.4(LZTFL1):c.388A>G (p.Ile130Val) | not provided [RCV001313975] | uncertain significance | 3 | 45833118 | 45833118 | Human | | name |
| 126731014 | CV1004783 | single nucleotide variant | NM_020347.4(LZTFL1):c.361G>A (p.Glu121Lys) | Bardet-Biedl syndrome 17 [RCV002504478]|Inborn genetic diseases [RCV004034274]|LZTFL1-related disorder [RCV003405533]|not provided [RCV001312965] | uncertain significance | 3 | 45834261 | 45834261 | Human | 2 | name , trait , alternate_id |
| 126749078 | CV1025313 | single nucleotide variant | NM_020347.4(LZTFL1):c.437C>T (p.Thr146Ile) | not provided [RCV001351985] | uncertain significance | 3 | 45833069 | 45833069 | Human | | name |
| 126924710 | CV1042257 | single nucleotide variant | NM_020347.4(LZTFL1):c.815G>A (p.Arg272Gln) | Bardet-Biedl syndrome 17 [RCV002504605]|Inborn genetic diseases [RCV003169867]|LZTFL1-related disorder [RCV004749669]|not provided [RCV001367342] | uncertain significance | 3 | 45827422 | 45827422 | Human | 2 | name , trait , alternate_id |
| 126924619 | CV1042258 | single nucleotide variant | NM_020347.4(LZTFL1):c.401C>T (p.Thr134Ile) | Bardet-Biedl syndrome 17 [RCV005023098]|not provided [RCV001367237] | uncertain significance | 3 | 45833105 | 45833105 | Human | 1 | name |
| 126914665 | CV1042259 | single nucleotide variant | NM_020347.4(LZTFL1):c.310G>A (p.Glu104Lys) | Inborn genetic diseases [RCV004034539]|not provided [RCV001359619] | uncertain significance | 3 | 45835603 | 45835603 | Human | 1 | name |
| 127293575 | CV1154478 | single nucleotide variant | NM_020347.4(LZTFL1):c.736G>A (p.Asp246Asn) | not provided [RCV001511391] | benign | 3 | 45828480 | 45828480 | Human | 2 | name |
| 127293575 | CV1154478 | single nucleotide variant | NM_020347.4(LZTFL1):c.736G>A (p.Asp246Asn) | not provided [RCV001511391] | benign | 3 | 45828480 | 45828481 | Human | 2 | name |
| 127316465 | CV1154479 | single nucleotide variant | NM_020347.4(LZTFL1):c.646G>A (p.Ala216Thr) | Bardet-Biedl syndrome 17 [RCV002501830]|LZTFL1-related disorder [RCV003956203]|not provided [RCV001520500] | benign|likely benign | 3 | 45828570 | 45828570 | Human | 1 | name , trait , alternate_id |
| 8654404 | CV131914 | single nucleotide variant | NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter) | Bardet-Biedl syndrome 1 [RCV000114320]|Bardet-Biedl syndrome 17 [RCV000133553] | pathogenic|not provided | 3 | 45827459 | 45827459 | Human | 2 | name |
| 151833342 | CV1348235 | single nucleotide variant | NM_020347.4(LZTFL1):c.766A>G (p.Met256Val) | Bardet-Biedl syndrome 17 [RCV002482476]|LZTFL1-related disorder [RCV003911059]|not provided [RCV001880520] | uncertain significance | 3 | 45828450 | 45828450 | Human | 1 | name , trait , alternate_id |
| 151766982 | CV1367178 | single nucleotide variant | NM_020347.4(LZTFL1):c.742C>T (p.Leu248Phe) | not provided [RCV002024988] | uncertain significance | 3 | 45828474 | 45828474 | Human | | name |
| 151856062 | CV1376394 | single nucleotide variant | NM_020347.4(LZTFL1):c.554T>C (p.Leu185Pro) | not provided [RCV002033784] | uncertain significance | 3 | 45830959 | 45830959 | Human | | name |
| 151759793 | CV1459319 | single nucleotide variant | NM_020347.4(LZTFL1):c.701A>G (p.Lys234Arg) | Bardet-Biedl syndrome 17 [RCV002489919]|LZTFL1-related disorder [RCV004749749]|not provided [RCV002044140] | uncertain significance | 3 | 45828515 | 45828515 | Human | 1 | name , trait , alternate_id |
| 151815253 | CV1475716 | single nucleotide variant | NM_020347.4(LZTFL1):c.371C>A (p.Ser124Tyr) | Inborn genetic diseases [RCV003170490]|not provided [RCV001992222] | uncertain significance | 3 | 45834251 | 45834251 | Human | 1 | name |
| 151845385 | CV1498554 | single nucleotide variant | NM_020347.4(LZTFL1):c.722C>T (p.Ala241Val) | not provided [RCV001978208] | uncertain significance | 3 | 45828494 | 45828494 | Human | | name |
| 152157853 | CV1616015 | single nucleotide variant | NM_020347.4(LZTFL1):c.509C>A (p.Thr170Asn) | not provided [RCV002159103] | likely benign | 3 | 45831086 | 45831086 | Human | | name |
| 155674162 | CV1774288 | single nucleotide variant | NM_020347.4(LZTFL1):c.377A>T (p.Asn126Ile) | not provided [RCV002297689] | uncertain significance | 3 | 45834245 | 45834245 | Human | | name |
| 155750001 | CV1774851 | single nucleotide variant | NM_020347.4(LZTFL1):c.512T>C (p.Ile171Thr) | not provided [RCV002305247] | uncertain significance | 3 | 45831083 | 45831083 | Human | | name |
| 156403438 | CV1885780 | single nucleotide variant | NM_020347.4(LZTFL1):c.634G>A (p.Glu212Lys) | not provided [RCV003069474] | uncertain significance | 3 | 45828582 | 45828582 | Human | | name |
| 10048542 | CV193658 | single nucleotide variant | NM_020347.4(LZTFL1):c.322C>T (p.Arg108Ter) | not provided [RCV000177316] | pathogenic | 3 | 45835591 | 45835591 | Human | | name |
| 156179606 | CV1953367 | single nucleotide variant | NM_020347.4(LZTFL1):c.590G>T (p.Gly197Val) | LZTFL1-related disorder [RCV004749908]|not provided [RCV002574073] | uncertain significance | 3 | 45830923 | 45830923 | Human | 1 | name , trait , alternate_id |
| 156119604 | CV1969106 | single nucleotide variant | NM_020347.4(LZTFL1):c.886G>C (p.Glu296Gln) | Inborn genetic diseases [RCV004064611]|LZTFL1-related disorder [RCV004725318]|not provided [RCV002593077] | uncertain significance | 3 | 45826328 | 45826328 | Human | 2 | name , trait , alternate_id |
| 156383168 | CV1975317 | single nucleotide variant | NM_020347.4(LZTFL1):c.679A>G (p.Asn227Asp) | not provided [RCV002604112] | uncertain significance | 3 | 45828537 | 45828537 | Human | | name |
| 156212177 | CV1997172 | single nucleotide variant | NM_020347.4(LZTFL1):c.663G>C (p.Glu221Asp) | Inborn genetic diseases [RCV005370263]|LZTFL1-related disorder [RCV004749937]|not provided [RCV002666885] | uncertain significance | 3 | 45828553 | 45828553 | Human | 2 | name , trait , alternate_id |
| 156105316 | CV2008351 | single nucleotide variant | NM_020347.4(LZTFL1):c.715A>G (p.Asn239Asp) | not provided [RCV002695458] | uncertain significance | 3 | 45828501 | 45828501 | Human | | name |
| 156014486 | CV2013408 | single nucleotide variant | NM_020347.4(LZTFL1):c.893A>T (p.Glu298Val) | not provided [RCV002735069] | uncertain significance | 3 | 45826321 | 45826321 | Human | | name |
| 156288269 | CV2050283 | single nucleotide variant | NM_020347.4(LZTFL1):c.425A>G (p.Asn142Ser) | not provided [RCV002807240] | uncertain significance | 3 | 45833081 | 45833081 | Human | | name |
| 156094794 | CV2050810 | single nucleotide variant | NM_020347.4(LZTFL1):c.337C>G (p.Gln113Glu) | not provided [RCV002824326] | uncertain significance | 3 | 45834285 | 45834285 | Human | | name |
| 156348031 | CV2146691 | single nucleotide variant | NM_020347.4(LZTFL1):c.302A>T (p.Asp101Val) | not provided [RCV003030669] | uncertain significance | 3 | 45835611 | 45835611 | Human | | name |
| 156220804 | CV2168288 | single nucleotide variant | NM_020347.4(LZTFL1):c.352G>A (p.Glu118Lys) | not provided [RCV003042712] | uncertain significance | 3 | 45834270 | 45834270 | Human | | name |
| 156371642 | CV2174610 | single nucleotide variant | NM_020347.4(LZTFL1):c.682G>A (p.Asp228Asn) | not provided [RCV003049747] | uncertain significance | 3 | 45828534 | 45828534 | Human | | name |
| 405273611 | CV3199264 | single nucleotide variant | NM_001276379.2(LZTFL1):c.26T>C (p.Met9Thr) | LZTFL1-related disorder [RCV003914214] | likely benign | 3 | 45913121 | 45913121 | Human | | name , trait , alternate_id |
| 405277956 | CV3209751 | single nucleotide variant | NM_001276379.2(LZTFL1):c.10C>G (p.Gln4Glu) | LZTFL1-related disorder [RCV003959312] | uncertain significance | 3 | 45913137 | 45913137 | Human | | name , trait , alternate_id |
| 405289163 | CV3218130 | single nucleotide variant | NM_020347.4(LZTFL1):c.340G>A (p.Val114Ile) | LZTFL1-related disorder [RCV003983532] | uncertain significance | 3 | 45834282 | 45834282 | Human | | name , trait , alternate_id |
| 405852786 | CV3393132 | single nucleotide variant | NM_020347.4(LZTFL1):c.505A>T (p.Lys169Ter) | Bardet-Biedl syndrome 17 [RCV004527271] | pathogenic | 3 | 45831090 | 45831090 | Human | 1 | name |
| 596939777 | CV3408025 | single nucleotide variant | NM_020347.4(LZTFL1):c.733C>T (p.His245Tyr) | Retinal dystrophy [RCV004814485] | uncertain significance | 3 | 45828483 | 45828483 | Human | 2 | name |
| 408376825 | CV3505741 | single nucleotide variant | NM_020347.4(LZTFL1):c.458A>G (p.Glu153Gly) | LZTFL1-related disorder [RCV004726678] | uncertain significance | 3 | 45831137 | 45831137 | Human | | name , trait , alternate_id |
| 408377349 | CV3508695 | single nucleotide variant | NM_020347.4(LZTFL1):c.363G>C (p.Glu121Asp) | LZTFL1-related disorder [RCV004750695] | uncertain significance | 3 | 45834259 | 45834259 | Human | | name , trait , alternate_id |
| 408375378 | CV3508761 | single nucleotide variant | NM_020347.4(LZTFL1):c.395A>G (p.Asp132Gly) | LZTFL1-related disorder [RCV004748008] | uncertain significance | 3 | 45833111 | 45833111 | Human | | name , trait , alternate_id |
| 408375417 | CV3509412 | single nucleotide variant | NM_020347.4(LZTFL1):c.304A>G (p.Ile102Val) | LZTFL1-related disorder [RCV004748088] | uncertain significance | 3 | 45835609 | 45835609 | Human | | name , trait , alternate_id |
| 408375942 | CV3511460 | single nucleotide variant | NM_020347.4(LZTFL1):c.373T>A (p.Ser125Thr) | LZTFL1-related disorder [RCV004748347] | uncertain significance | 3 | 45834249 | 45834249 | Human | | name , trait , alternate_id |
| 597638233 | CV3717507 | single nucleotide variant | NM_020347.4(LZTFL1):c.745A>G (p.Arg249Gly) | Bardet-Biedl syndrome 17 [RCV005024619] | uncertain significance | 3 | 45828471 | 45828471 | Human | 1 | name |
| 597716717 | CV3717508 | single nucleotide variant | NM_020347.4(LZTFL1):c.736G>T (p.Asp246Tyr) | Bardet-Biedl syndrome 17 [RCV005035327] | uncertain significance | 3 | 45828480 | 45828480 | Human | 1 | name |
| 597716726 | CV3717509 | single nucleotide variant | NM_020347.4(LZTFL1):c.716A>G (p.Asn239Ser) | Bardet-Biedl syndrome 17 [RCV005035328] | uncertain significance | 3 | 45828500 | 45828500 | Human | 1 | name |
| 597716735 | CV3717510 | single nucleotide variant | NM_020347.4(LZTFL1):c.684C>A (p.Asp228Glu) | Bardet-Biedl syndrome 17 [RCV005035329] | uncertain significance | 3 | 45828532 | 45828532 | Human | 1 | name |
| 597638239 | CV3717511 | single nucleotide variant | NM_020347.4(LZTFL1):c.640A>G (p.Thr214Ala) | Bardet-Biedl syndrome 17 [RCV005024620] | uncertain significance | 3 | 45828576 | 45828576 | Human | 1 | name |
| 597638252 | CV3717513 | single nucleotide variant | NM_020347.4(LZTFL1):c.599A>G (p.Lys200Arg) | Bardet-Biedl syndrome 17 [RCV005024622] | uncertain significance | 3 | 45830914 | 45830914 | Human | 1 | name |
| 597716744 | CV3717515 | single nucleotide variant | NM_020347.4(LZTFL1):c.430G>A (p.Gly144Ser) | Bardet-Biedl syndrome 17 [RCV005035330] | uncertain significance | 3 | 45833076 | 45833076 | Human | 1 | name |
| 597933679 | CV3750347 | single nucleotide variant | NM_020347.4(LZTFL1):c.836C>T (p.Thr279Ile) | not provided [RCV005076272] | uncertain significance | 3 | 45827401 | 45827401 | Human | | name |
| 598163979 | CV3981482 | single nucleotide variant | NM_020347.4(LZTFL1):c.445C>T (p.Leu149Phe) | Inborn genetic diseases [RCV005368917] | uncertain significance | 3 | 45833061 | 45833061 | Human | 1 | name |
| 15098855 | CV698114 | single nucleotide variant | NM_020347.4(LZTFL1):c.376A>C (p.Asn126His) | Bardet-Biedl syndrome 17 [RCV002502993]|not provided [RCV000958653] | benign|likely benign | 3 | 45834246 | 45834246 | Human | 1 | name |
| 15186931 | CV734077 | single nucleotide variant | NM_020347.4(LZTFL1):c.685A>G (p.Lys229Glu) | LZTFL1-related disorder [RCV003977956]|not provided [RCV000908947] | benign|likely benign | 3 | 45828531 | 45828531 | Human | 1 | name , trait , alternate_id |
| 26917752 | CV828183 | single nucleotide variant | NM_020347.4(LZTFL1):c.800A>G (p.Gln267Arg) | Inborn genetic diseases [RCV004986746]|not provided [RCV001042268] | uncertain significance | 3 | 45827437 | 45827437 | Human | 1 | name |
| 26890642 | CV828184 | single nucleotide variant | NM_020347.4(LZTFL1):c.548C>T (p.Ser183Leu) | not provided [RCV001059566] | uncertain significance | 3 | 45830965 | 45830965 | Human | | name |
| 26894966 | CV828185 | single nucleotide variant | NM_020347.4(LZTFL1):c.440C>G (p.Ala147Gly) | not provided [RCV001063750] | uncertain significance | 3 | 45833066 | 45833066 | Human | | name |
| 26900636 | CV828186 | single nucleotide variant | NM_020347.4(LZTFL1):c.301G>A (p.Asp101Asn) | not provided [RCV001067964] | uncertain significance | 3 | 45835612 | 45835612 | Human | | name |
| 38473214 | CV923217 | single nucleotide variant | NM_020347.4(LZTFL1):c.798G>C (p.Gln266His) | Inborn genetic diseases [RCV003363171]|LZTFL1-related disorder [RCV003963131]|not provided [RCV001214296] | uncertain significance | 3 | 45827439 | 45827439 | Human | 2 | name , trait , alternate_id |
| 38461294 | CV931961 | single nucleotide variant | NM_020347.4(LZTFL1):c.721G>A (p.Ala241Thr) | Bardet-Biedl syndrome 17 [RCV002491650]|Inborn genetic diseases [RCV002561772]|LZTFL1-related disorder [RCV004749623]|not provided [RCV001211996] | uncertain significance | 3 | 45828495 | 45828495 | Human | 2 | name , trait , alternate_id |
| 38488477 | CV943567 | single nucleotide variant | NM_020347.4(LZTFL1):c.724A>G (p.Thr242Ala) | LZTFL1-related disorder [RCV003908456]|not provided [RCV001238033] | likely benign|uncertain significance | 3 | 45828492 | 45828492 | Human | 1 | name , trait , alternate_id |
| 38488816 | CV943568 | single nucleotide variant | NM_020347.4(LZTFL1):c.624A>C (p.Leu208Phe) | not provided [RCV001238164] | uncertain significance | 3 | 45828592 | 45828592 | Human | | name |
| 38479446 | CV943569 | single nucleotide variant | NM_020347.4(LZTFL1):c.609A>G (p.Ile203Met) | not provided [RCV001234322] | uncertain significance | 3 | 45828607 | 45828607 | Human | | name |
| 38468634 | CV953493 | single nucleotide variant | NM_020347.4(LZTFL1):c.583G>C (p.Asp195His) | Bardet-Biedl syndrome 17 [RCV002484392]|Inborn genetic diseases [RCV002570366]|LZTFL1-related disorder [RCV004749637]|not provided [RCV001248073] | uncertain significance | 3 | 45830930 | 45830930 | Human | 2 | name , trait , alternate_id |
| 126763024 | CV989604 | single nucleotide variant | NM_020347.4(LZTFL1):c.625A>G (p.Ser209Gly) | not provided [RCV001300557] | uncertain significance | 3 | 45828591 | 45828591 | Human | | name |
| 405274258 | CV3191996 | single nucleotide variant | NM_001276379.2(LZTFL1):c.52T>G (p.Leu18Val) | LZTFL1-related disorder [RCV003923929] | uncertain significance | 3 | 45855050 | 45855050 | Human | | name , trait , alternate_id |
| 408379848 | CV3514401 | single nucleotide variant | NM_001276379.2(LZTFL1):c.90C>A (p.Ser30Arg) | LZTFL1-related disorder [RCV004749219] | uncertain significance | 3 | 45855012 | 45855012 | Human | | name , trait , alternate_id |
| 408379886 | CV3516923 | deletion | NM_001276379.2(LZTFL1):c.20_21del (p.Gly7fs) | LZTFL1-related disorder [RCV004750038] | uncertain significance | 3 | 45913126 | 45913127 | Human | | name , trait , alternate_id |
| 597638227 | CV3717506 | deletion | NM_020347.4(LZTFL1):c.745_746del (p.Arg249fs) | Bardet-Biedl syndrome 17 [RCV005024618] | likely pathogenic | 3 | 45828470 | 45828471 | Human | 1 | name |
| 8604355 | CV48369 | deletion | NM_020347.4(LZTFL1):c.402_406del (p.Pro136fs) | Bardet-Biedl syndrome 17 [RCV000032989] | pathogenic | 3 | 45833100 | 45833104 | Human | 1 | name |
| 156242980 | CV2101538 | indel | NM_020347.4(LZTFL1):c.561_563delinsTT (p.Lys187fs) | not provided [RCV002894979] | pathogenic | 3 | 45830950 | 45830952 | Human | | name |
| 13446165 | CV438239 | deletion | NM_020347.4(LZTFL1):c.626_631del (p.Ser209_Leu211delinsIle) | not provided [RCV000513355] | uncertain significance | 3 | 45828585 | 45828590 | Human | | name |
| 405277943 | CV3205625 | single nucleotide variant | NC_000003.12:g.45913152A>C | LZTFL1-related disorder [RCV003959761] | likely benign | 3 | 45913152 | 45913152 | Human | | trait , alternate_id |
| 408377783 | CV3503464 | single nucleotide variant | NC_000003.12:g.45913155G>T | LZTFL1-related disorder [RCV004729995] | likely benign | 3 | 45913155 | 45913155 | Human | | trait , alternate_id |
| 408379843 | CV3511982 | single nucleotide variant | NC_000003.12:g.45913149G>A | LZTFL1-related disorder [RCV004748411] | uncertain significance | 3 | 45913149 | 45913149 | Human | | trait , alternate_id |
