| - GRCh37:
- Chr17:2577389
- GRCh38:
- Chr17:2674095
| PAFAH1B1 | W236* | Lissencephaly due to LIS1 mutation | Likely pathogenic | criteria provided, single submitter |
| | PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr17:2569335-2569336
- GRCh38:
- Chr17:2666041-2666042
| PAFAH1B1 | G49fs | Lissencephaly due to LIS1 mutation | Likely pathogenic
(Apr 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2568753
- GRCh38:
- Chr17:2665459
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Uncertain significance
(Mar 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2570455
- GRCh38:
- Chr17:2667161
| PAFAH1B1 | S121N | Lissencephaly due to LIS1 mutation | Uncertain significance
(Feb 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2573542
- GRCh38:
- Chr17:2670248
| PAFAH1B1 | G162D | Lissencephaly due to LIS1 mutation | Likely pathogenic
(Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2577430
- GRCh38:
- Chr17:2674136
| PAFAH1B1 | A250T | Lissencephaly due to LIS1 mutation | Uncertain significance
(Nov 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2573482
- GRCh38:
- Chr17:2670188
| PAFAH1B1 | F142S | Lissencephaly due to LIS1 mutation | Pathogenic
(Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2532459
- GRCh38:
- Chr17:2629165
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Uncertain significance
(Aug 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2573627
- GRCh38:
- Chr17:2670333
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Likely pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2573456
- GRCh38:
- Chr17:2670162
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Likely pathogenic
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2577437
- GRCh38:
- Chr17:2674143
| PAFAH1B1 | C252S | not provided, Lissencephaly due to LIS1 mutation | Uncertain significance
(Apr 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:2575988
- GRCh38:
- Chr17:2672694
| PAFAH1B1 | N203S | Inborn genetic diseases, Lissencephaly due to LIS1 mutation, not provided
| Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:2583536-2583537
- GRCh38:
- Chr17:2680242-2680243
| PAFAH1B1 | L362fs | Lissencephaly due to LIS1 mutation, not provided | Pathogenic/Likely pathogenic
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:49580106
- GRCh38:
- Chr12:49186323
| TUBA1A | R121Q, R86Q | not provided, Lissencephaly due to LIS1 mutation, Lissencephaly due to TUBA1A mutation
| Conflicting interpretations of pathogenicity
(Jun 19, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:2583591
- GRCh38:
- Chr17:2680297
| PAFAH1B1 | H379R | Lissencephaly due to LIS1 mutation | Pathogenic
(May 13, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr17:2577362-2577363
- GRCh38:
- Chr17:2674068-2674069
| PAFAH1B1 | K228fs | Lissencephaly due to LIS1 mutation | Likely pathogenic
(Jun 4, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr17:2569332
- GRCh38:
- Chr17:2666038
| PAFAH1B1 | Y47C | Lissencephaly due to LIS1 mutation | Uncertain significance
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2583542
- GRCh38:
- Chr17:2680248
| PAFAH1B1 | R363C | Lissencephaly due to LIS1 mutation | Uncertain significance
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2583597
- GRCh38:
- Chr17:2680303
| PAFAH1B1 | H381R | Lissencephaly due to LIS1 mutation | Likely pathogenic
(Apr 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2576041
- GRCh38:
- Chr17:2672747
| PAFAH1B1 | V221M | Lissencephaly due to LIS1 mutation, not provided | Conflicting interpretations of pathogenicity
(Sep 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:2575940
- GRCh38:
- Chr17:2672646
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Uncertain significance
(Jan 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2579865
- GRCh38:
- Chr17:2676571
| PAFAH1B1 | W323R | Lissencephaly due to LIS1 mutation | Likely pathogenic
(Dec 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2577534
- GRCh38:
- Chr17:2674240
| PAFAH1B1 | W284* | not provided, Lissencephaly due to LIS1 mutation | Pathogenic
(Jan 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:2569368
- GRCh38:
- Chr17:2666074
| PAFAH1B1 | R60fs | Lissencephaly due to LIS1 mutation | Pathogenic
(May 14, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr17:2569296-2569300
- GRCh38:
- Chr17:2666002-2666006
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Uncertain significance
(Feb 11, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr17:2541532-2541639
- GRCh38:
- Chr17:2638238-2638345
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Likely pathogenic
(Jan 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2583433-2585146
- GRCh38:
- Chr17:2680139-2681852
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Likely pathogenic
(Jan 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2577582
- GRCh38:
- Chr17:2674288
| PAFAH1B1 | E300D | Lissencephaly due to LIS1 mutation | Likely pathogenic
(Feb 17, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2577581
- GRCh38:
- Chr17:2674287
| PAFAH1B1 | E300G | Lissencephaly due to LIS1 mutation | Likely pathogenic
(Jul 8, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2573626
- GRCh38:
- Chr17:2670332
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Pathogenic
(Jan 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:2573570-2573571
- GRCh38:
- Chr17:2670276-2670277
| PAFAH1B1 | M172fs | Lissencephaly due to LIS1 mutation | Pathogenic
(Sep 11, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2585053
- GRCh38:
- Chr17:2681759
| PAFAH1B1 | T397I | not provided | Likely pathogenic
(Nov 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2583615
- GRCh38:
- Chr17:2680321
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation, not provided | Pathogenic
(Sep 21, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:2579830-2579831
- GRCh38:
- Chr17:2676536-2676537
| PAFAH1B1 | L312fs | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2579809
- GRCh38:
- Chr17:2676515
| PAFAH1B1 | S304fs | Lissencephaly due to LIS1 mutation | Pathogenic
(May 22, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2577510-2577511
- GRCh38:
- Chr17:2674216-2674217
| PAFAH1B1 | H277fs | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2577453-2577454
- GRCh38:
- Chr17:2674159-2674160
| PAFAH1B1 | V258fs | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2577452-2577454
- GRCh38:
- Chr17:2674158-2674160
| PAFAH1B1 | T257fs | Lissencephaly due to LIS1 mutation | Pathogenic
(Dec 18, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2577406-2577407
- GRCh38:
- Chr17:2674112-2674113
| PAFAH1B1 | D245fs | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2568702-2568703
- GRCh38:
- Chr17:2665408-2665409
| PAFAH1B1 | E25fs | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2577382-2577383
- GRCh38:
- Chr17:2674088-2674089
| PAFAH1B1 | E235fs | Inborn genetic diseases, not provided, Lissencephaly due to LIS1 mutation
| Pathogenic/Likely pathogenic
(Sep 10, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:2576044-2576045
- GRCh38:
- Chr17:2672750-2672751
| PAFAH1B1 | T223fs | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2575943
- GRCh38:
- Chr17:2672649
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Likely pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2573590-2573591
- GRCh38:
- Chr17:2670296-2670297
| PAFAH1B1 | Q180fs | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2573495-2573496
- GRCh38:
- Chr17:2670201-2670202
| PAFAH1B1 | G148fs | not provided, Lissencephaly due to LIS1 mutation | Pathogenic
(Aug 11, 2015) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:2570436-2570437
- GRCh38:
- Chr17:2667142-2667143
| PAFAH1B1 | H117fs | Lissencephaly due to LIS1 mutation | Pathogenic
(May 1, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2570378-2570379
- GRCh38:
- Chr17:2667084-2667085
| PAFAH1B1 | R97fs | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2569381-2569382
- GRCh38:
- Chr17:2666087-2666088
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2583472-2583473
- GRCh38:
- Chr17:2680178-2680179
| PAFAH1B1 | W340fs | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2583426-2583485
- GRCh38:
- Chr17:2680132-2680191
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2573580
- GRCh38:
- Chr17:2670286
| PAFAH1B1 | K175* | Lissencephaly due to LIS1 mutation | Pathogenic
(May 16, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2577500
- GRCh38:
- Chr17:2674206
| PAFAH1B1 | R273Q | Lissencephaly due to LIS1 mutation | Likely pathogenic
(Feb 19, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr17:2579863
- GRCh38:
- Chr17:2676569
| PAFAH1B1 | M322R | Lissencephaly due to LIS1 mutation | Likely pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2579836
- GRCh38:
- Chr17:2676542
| PAFAH1B1 | S313F | Lissencephaly due to LIS1 mutation | Likely pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2579802
- GRCh38:
- Chr17:2676508
| PAFAH1B1 | S304fs | Lissencephaly due to LIS1 mutation | Pathogenic
(May 22, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2577582
- GRCh38:
- Chr17:2674288
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Likely pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2577583
- GRCh38:
- Chr17:2674289
| PAFAH1B1 | | not provided, Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:2577533
- GRCh38:
- Chr17:2674239
| PAFAH1B1 | W284* | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2568717
- GRCh38:
- Chr17:2665423
| PAFAH1B1 | Y28* | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2577523
- GRCh38:
- Chr17:2674229
| PAFAH1B1 | C281R | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2577433
- GRCh38:
- Chr17:2674139
| PAFAH1B1 | S251R | Lissencephaly due to LIS1 mutation | Likely pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2577412
- GRCh38:
- Chr17:2674118
| PAFAH1B1 | Q244* | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2568705
- GRCh38:
- Chr17:2665411
| PAFAH1B1 | Y24* | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2577397-2577398
- GRCh38:
- Chr17:2674103-2674104
| PAFAH1B1 | M239fs | Lissencephaly due to LIS1 mutation | Pathogenic
(Dec 31, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr17:2577369
- GRCh38:
- Chr17:2674075
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Uncertain significance
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2577357
- GRCh38:
- Chr17:2674063
| PAFAH1B1 | Y225* | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2576051
- GRCh38:
- Chr17:2672757
| PAFAH1B1 | G224D | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2576056
- GRCh38:
- Chr17:2672762
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Likely pathogenic
(Feb 8, 2013) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:2576055
- GRCh38:
- Chr17:2672761
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Likely pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2576044
- GRCh38:
- Chr17:2672750
| PAFAH1B1 | Q222* | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2576036
- GRCh38:
- Chr17:2672742
| PAFAH1B1 | E220fs | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2576037
- GRCh38:
- Chr17:2672743
| PAFAH1B1 | W219* | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2576025-2576026
- GRCh38:
- Chr17:2672731-2672732
| PAFAH1B1 | I216fs | not provided, Lissencephaly due to LIS1 mutation | Pathogenic
(Mar 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:2576018-2576025
- GRCh38:
- Chr17:2672724-2672731
| PAFAH1B1 | T215fs | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2576012
- GRCh38:
- Chr17:2672718
| PAFAH1B1 | S211* | not provided, Lissencephaly due to LIS1 mutation | Pathogenic
(Jan 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:2568689
- GRCh38:
- Chr17:2665395
| PAFAH1B1 | L19R | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2573652
- GRCh38:
- Chr17:2670358
| PAFAH1B1 | | not specified, not provided, Lissencephaly due to LIS1 mutation
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:2573591
- GRCh38:
- Chr17:2670297
| PAFAH1B1 | Q180fs | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2573579-2573583
- GRCh38:
- Chr17:2670285-2670289
| PAFAH1B1 | K175fs | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2573560
- GRCh38:
- Chr17:2670266
| PAFAH1B1 | C168Y | Lissencephaly due to LIS1 mutation | Likely pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2573517
- GRCh38:
- Chr17:2670223
| PAFAH1B1 | Q154* | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2573510-2573511
- GRCh38:
- Chr17:2670216-2670217
| PAFAH1B1 | S152fs | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2573487
- GRCh38:
- Chr17:2670193
| PAFAH1B1 | R144* | not provided, Lissencephaly due to LIS1 mutation | Pathogenic
(Sep 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:2573462
- GRCh38:
- Chr17:2670168
| PAFAH1B1 | W135* | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2541585
- GRCh38:
- Chr17:2638291
| PAFAH1B1 | M1I | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2570493
- GRCh38:
- Chr17:2667199
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2570479
- GRCh38:
- Chr17:2667185
| PAFAH1B1 | D129V | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2568670
- GRCh38:
- Chr17:2665376
| PAFAH1B1 | R13* | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2570464
- GRCh38:
- Chr17:2667170
| PAFAH1B1 | V124D | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2568663
- GRCh38:
- Chr17:2665369
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2570397-2570398
- GRCh38:
- Chr17:2667103-2667104
| PAFAH1B1 | Y102* | Lissencephaly due to LIS1 mutation | Pathogenic
(Mar 24, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr17:2570358
- GRCh38:
- Chr17:2667064
| PAFAH1B1 | R89* | Lissencephaly due to LIS1 mutation, not provided | Pathogenic
(Apr 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:2569384
- GRCh38:
- Chr17:2666090
| PAFAH1B1 | K64N | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2569385
- GRCh38:
- Chr17:2666091
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2569385
- GRCh38:
- Chr17:2666091
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2569399
- GRCh38:
- Chr17:2666105
| PAFAH1B1 | | Lissencephaly due to LIS1 mutation | Uncertain significance
(Feb 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr17:2569355
- GRCh38:
- Chr17:2666061
| PAFAH1B1 | W55R | not provided, Lissencephaly due to LIS1 mutation, Inborn genetic diseases
| Conflicting interpretations of pathogenicity
(Oct 3, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:2569341
- GRCh38:
- Chr17:2666047
| PAFAH1B1 | L51fs | not provided, Lissencephaly due to LIS1 mutation | Pathogenic
(Apr 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:2569325-2569326
- GRCh38:
- Chr17:2666031-2666032
| PAFAH1B1 | K46fs | Lissencephaly due to LIS1 mutation | Pathogenic
(Feb 8, 2013) | criteria provided, single submitter |