| - GRCh37:
- Chr2:61244993
- GRCh38:
- Chr2:61017858
| PEX13, PUS10 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61272841-61275905
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61272841-61275905
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Dec 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258534-61275905
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259108
- GRCh38:
- Chr2:61031973
| PEX13 | G216A | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258715
- GRCh38:
- Chr2:61031580
| PEX13 | Y85C | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61275797
- GRCh38:
- Chr2:61048662
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258750
- GRCh38:
- Chr2:61031615
| PEX13 | S97G | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258757
- GRCh38:
- Chr2:61031622
| PEX13 | G99V | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Jul 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61272852
- GRCh38:
- Chr2:61045717
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61244979
- GRCh38:
- Chr2:61017844
| PUS10, PEX13 | T29A | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61272919
- GRCh38:
- Chr2:61045784
| PEX13 | D282E | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61272994
- GRCh38:
- Chr2:61045859
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258981
- GRCh38:
- Chr2:61031846
| PEX13 | H174Y | Inborn genetic diseases, Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Mar 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:61258801
- GRCh38:
- Chr2:61031666
| PEX13 | P114A | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258843
- GRCh38:
- Chr2:61031708
| PEX13 | G128R | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Aug 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61244920
- GRCh38:
- Chr2:61017785
| PEX13, PUS10 | P9H | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Feb 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61275873
- GRCh38:
- Chr2:61048738
| PEX13 | I394V | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259121
- GRCh38:
- Chr2:61031986
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Sep 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61275745
- GRCh38:
- Chr2:61048610
| PEX13 | Q351R | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259130
- GRCh38:
- Chr2:61031995
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258880
- GRCh38:
- Chr2:61031745
| PEX13 | F140S | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258667
- GRCh38:
- Chr2:61031532
| PEX13 | N69S | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61275764
- GRCh38:
- Chr2:61048629
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259188
- GRCh38:
- Chr2:61032053
| PEX13 | I243V | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61244906
- GRCh38:
- Chr2:61017771
| PEX13, PUS10 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61244900
- GRCh38:
- Chr2:61017765
| PEX13, PUS10 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258553
- GRCh38:
- Chr2:61031418
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely pathogenic
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259166
- GRCh38:
- Chr2:61032031
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259258
- GRCh38:
- Chr2:61032123
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259219-61259220
- GRCh38:
- Chr2:61032084-61032085
| PEX13 | L254fs | Peroxisome biogenesis disorder 11A (Zellweger) | Pathogenic
(Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258729
- GRCh38:
- Chr2:61031594
| PEX13 | Y90D | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61245002
- GRCh38:
- Chr2:61017867
| PEX13, PUS10 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61275881
- GRCh38:
- Chr2:61048746
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258972
- GRCh38:
- Chr2:61031837
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61275735
- GRCh38:
- Chr2:61048600
| PEX13 | V348I | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258576
- GRCh38:
- Chr2:61031441
| PEX13 | L39V | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61244961
- GRCh38:
- Chr2:61017826
| PEX13, PUS10 | G23R | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258843
- GRCh38:
- Chr2:61031708
| PEX13 | G128C | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259090
- GRCh38:
- Chr2:61031955
| PEX13 | L210P | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259046
- GRCh38:
- Chr2:61031911
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258770
- GRCh38:
- Chr2:61031635
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Jan 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61275648
- GRCh38:
- Chr2:61048513
| PEX13 | D319H | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Feb 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61244964
- GRCh38:
- Chr2:61017829
| PEX13, PUS10 | P24S | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259051
- GRCh38:
- Chr2:61031916
| PEX13 | R197Q | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Jul 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258665
- GRCh38:
- Chr2:61031530
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258574
- GRCh38:
- Chr2:61031439
| PEX13 | T38I | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61275730
- GRCh38:
- Chr2:61048595
| PEX13 | S346N | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258909
- GRCh38:
- Chr2:61031774
| PEX13 | T150A | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259025
- GRCh38:
- Chr2:61031890
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259094
- GRCh38:
- Chr2:61031959
| PEX13 | W211* | Peroxisome biogenesis disorder 11A (Zellweger) | Pathogenic
(Sep 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61244978
- GRCh38:
- Chr2:61017843
| PEX13, PUS10 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259072
- GRCh38:
- Chr2:61031937
| PEX13 | G204A | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61244954
- GRCh38:
- Chr2:61017819
| PEX13, PUS10 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259010
- GRCh38:
- Chr2:61031875
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259133
- GRCh38:
- Chr2:61031998
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258584
- GRCh38:
- Chr2:61031449
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61275892
- GRCh38:
- Chr2:61048757
| PEX13 | K400M | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Jul 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259220
- GRCh38:
- Chr2:61032085
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259086
- GRCh38:
- Chr2:61031951
| PEX13 | D209Y | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258599
- GRCh38:
- Chr2:61031464
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Jul 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258596
- GRCh38:
- Chr2:61031461
| PEX13 | Q45H | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61275751
- GRCh38:
- Chr2:61048616
| PEX13 | Q353L | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Jun 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61272911
- GRCh38:
- Chr2:61045776
| PEX13 | E280Q | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258775
- GRCh38:
- Chr2:61031640
| PEX13 | Y105C | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61275650
- GRCh38:
- Chr2:61048515
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Jun 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259239
- GRCh38:
- Chr2:61032104
| PEX13 | E260Q | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61275600
- GRCh38:
- Chr2:61048465
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Jun 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258609
- GRCh38:
- Chr2:61031474
| PEX13 | R50fs | Peroxisome biogenesis disorder 11A (Zellweger) | Pathogenic
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259230
- GRCh38:
- Chr2:61032095
| PEX13 | H257Y | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258580
- GRCh38:
- Chr2:61031445
| PEX13 | M40T | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258945
- GRCh38:
- Chr2:61031810
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258624
- GRCh38:
- Chr2:61031489
| PEX13 | I55V | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Jun 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61275591-61275592
- GRCh38:
- Chr2:61048456-61048457
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259235
- GRCh38:
- Chr2:61032100
| PEX13 | S258R | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61245001
- GRCh38:
- Chr2:61017866
| PEX13, PUS10 | | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259177
- GRCh38:
- Chr2:61032042
| PEX13 | F239S | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Jul 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61272878
- GRCh38:
- Chr2:61045743
| PEX13 | S269G | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258557
- GRCh38:
- Chr2:61031422
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259180
- GRCh38:
- Chr2:61032045
| PEX13 | F240C | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61259260
- GRCh38:
- Chr2:61032125
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Jan 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61244923
- GRCh38:
- Chr2:61017788
| PEX13, PUS10 | K10I | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61275852
- GRCh38:
- Chr2:61048717
| PEX13 | V387I | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61275777
- GRCh38:
- Chr2:61048642
| PEX13 | K362E | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258556
- GRCh38:
- Chr2:61031421
| PEX13 | S32Y | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Jun 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61244917
- GRCh38:
- Chr2:61017782
| PEX13, PUS10 | P8L | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61275662
- GRCh38:
- Chr2:61048527
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61272940
- GRCh38:
- Chr2:61045805
| PEX13 | E289D | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61244962
- GRCh38:
- Chr2:61017827
| PEX13, PUS10 | G23E | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(May 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61272987
- GRCh38:
- Chr2:61045852
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Apr 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61275768
- GRCh38:
- Chr2:61048633
| PEX13 | T359A | Inborn genetic diseases, Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Mar 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:61275781
- GRCh38:
- Chr2:61048646
| PEX13 | G363E | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61275898
- GRCh38:
- Chr2:61048763
| PEX13 | D402G | not provided, Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(May 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:61275831
- GRCh38:
- Chr2:61048696
| PEX13 | V380F | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Aug 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61275862
- GRCh38:
- Chr2:61048727
| PEX13 | A390V | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258700
- GRCh38:
- Chr2:61031565
| PEX13 | S80F | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61272945
- GRCh38:
- Chr2:61045810
| PEX13 | I291T | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61272921
- GRCh38:
- Chr2:61045786
| PEX13 | F283S | Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:61258718
- GRCh38:
- Chr2:61031583
| PEX13 | G86E | not provided, Peroxisome biogenesis disorder 11A (Zellweger) | Uncertain significance
(Apr 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:61259085
- GRCh38:
- Chr2:61031950
| PEX13 | | Peroxisome biogenesis disorder 11A (Zellweger) | Likely benign
(Jan 4, 2021) | criteria provided, single submitter |