| - GRCh37:
- Chr3:45877152
- GRCh38:
- Chr3:45835660
| LZTFL1 | R68*, R81*, R85*, R93* | Bardet-Biedl syndrome 17 | Pathogenic
(Mar 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:45879406
- GRCh38:
- Chr3:45837914
| LZTFL1 | | Bardet-Biedl syndrome 17, not provided | Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45875718
- GRCh38:
- Chr3:45834226
| LZTFL1 | | Bardet-Biedl syndrome 17, not provided | Benign/Likely benign
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45877124
- GRCh38:
- Chr3:45835632
| LZTFL1 | W77S, W90S, W94S | Bardet-Biedl syndrome 17, not provided | Uncertain significance
(Apr 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45879492
- GRCh38:
- Chr3:45838000
| LZTFL1 | R19S, R2S | Bardet-Biedl syndrome 17, not provided | Uncertain significance
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45869942
- GRCh38:
- Chr3:45828450
| LZTFL1 | M256V, M252V, M239V | Bardet-Biedl syndrome 17, not provided | Uncertain significance
(Mar 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45870007
- GRCh38:
- Chr3:45828515
| LZTFL1 | K217R, K230R, K234R | not provided, Bardet-Biedl syndrome 17 | Uncertain significance
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45872631
- GRCh38:
- Chr3:45831139
| LZTFL1 | | Bardet-Biedl syndrome 17 | Likely pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:45879406
- GRCh38:
- Chr3:45837914
| LZTFL1 | | Bardet-Biedl syndrome 17, not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45870062
- GRCh38:
- Chr3:45828570
| LZTFL1 | A199T, A212T, A216T | Bardet-Biedl syndrome 17, not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45868832
- GRCh38:
- Chr3:45827340
| LZTFL1 | | Bardet-Biedl syndrome 17, not provided | Benign/Likely benign
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45868830
- GRCh38:
- Chr3:45827338
| LZTFL1 | | Bardet-Biedl syndrome 17, not provided | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45868829
- GRCh38:
- Chr3:45827337
| LZTFL1 | | not provided, Bardet-Biedl syndrome 17 | Likely benign
(May 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45868914
- GRCh38:
- Chr3:45827422
| LZTFL1 | R255Q, R272Q | Inborn genetic diseases, Bardet-Biedl syndrome 17, not provided
| Uncertain significance
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45868917
- GRCh38:
- Chr3:45827425
| LZTFL1 | Y254C, Y271C | Bardet-Biedl syndrome 17, not provided | Uncertain significance
(Mar 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45879491
- GRCh38:
- Chr3:45837999
| LZTFL1 | R19H, R2H | Bardet-Biedl syndrome 17, not provided | Uncertain significance
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45875753
- GRCh38:
- Chr3:45834261
| LZTFL1 | E104K, E117K, E121K | Bardet-Biedl syndrome 17, not provided | Uncertain significance
(May 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45872422
- GRCh38:
- Chr3:45830930
| LZTFL1 | D178H, D191H, D195H | Bardet-Biedl syndrome 17, Inborn genetic diseases, not provided
| Uncertain significance
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45869987
- GRCh38:
- Chr3:45828495
| LZTFL1 | A241T, A224T, A237T | Inborn genetic diseases, not provided, Bardet-Biedl syndrome 17
| Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45954636
- GRCh38:
- Chr3:45913144
| LZTFL1 | M1I | Bardet-Biedl syndrome 17 | Likely pathogenic
(Feb 5, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr3:45875738
- GRCh38:
- Chr3:45834246
| LZTFL1 | N122H, N109H, N126H | Bardet-Biedl syndrome 17, not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:45879483
- GRCh38:
- Chr3:45837991
| LZTFL1 | R22C, R5C | Bardet-Biedl syndrome 17 | Uncertain significance
(Dec 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:45868951
- GRCh38:
- Chr3:45827459
| LZTFL1 | E243*, E260* | Bardet-Biedl syndrome 17 | Pathogenic
(May 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr3:45877145
- GRCh38:
- Chr3:45835653
| LZTFL1 | L70P, L87P, L83P | Bardet-Biedl syndrome 17 | Pathogenic
(May 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr3:45874592-45874596
- GRCh38:
- Chr3:45833100-45833104
| LZTFL1 | P132fs, P136fs, P119fs | Bardet-Biedl syndrome 17 | Pathogenic
(May 1, 2012) | no assertion criteria provided |