| - GRCh37:
- Chr17:33904166
- GRCh38:
- Chr17:35577147
| PEX12 | P191T | Peroxisome biogenesis disorder type 3B | Uncertain significance
(Mar 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr17:33903025
- GRCh38:
- Chr17:35576006
| PEX12 | V286I | Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
| Uncertain significance
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33903014
- GRCh38:
- Chr17:35575995
| PEX12 | | Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
| Benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33902917-33902920
- GRCh38:
- Chr17:35575898-35575901
| PEX12 | G321fs | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
| Pathogenic/Likely pathogenic
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33904056
- GRCh38:
- Chr17:35577037
| PEX12 | | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
| Conflicting interpretations of pathogenicity
(Jun 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:33902893-33902894
- GRCh38:
- Chr17:35575874-35575875
| PEX12 | F330fs | Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger),
Peroxisome biogenesis disorder | Conflicting interpretations of pathogenicity
(Mar 30, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:33904952-33904953
- GRCh38:
- Chr17:35577933-35577934
| PEX12 | M30fs | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B | Likely pathogenic
(Mar 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:33904093
- GRCh38:
- Chr17:35577074
| PEX12 | P215fs | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B | Likely pathogenic
(Feb 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:33905039-33905040
- GRCh38:
- Chr17:35578020-35578021
| PEX12 | M1fs | Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger) | Likely pathogenic
(Feb 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:33905000-33905023
- GRCh38:
- Chr17:35577981-35578004
| PEX12 | | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B | Uncertain significance
(Feb 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:33902810-33902811
- GRCh38:
- Chr17:35575791-35575792
| PEX12 | P357fs | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B | Uncertain significance
(Jan 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:33902832-33902834
- GRCh38:
- Chr17:35575813-35575815
| PEX12 | Q349del | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger),
Peroxisome biogenesis disorder type 3B | Pathogenic/Likely pathogenic
(Aug 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33904112
- GRCh38:
- Chr17:35577093
| PEX12 | Q209* | Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger),
Peroxisome biogenesis disorder | Pathogenic/Likely pathogenic
(Sep 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33902858
- GRCh38:
- Chr17:35575839
| PEX12 | T342fs | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B | Uncertain significance
(Dec 5, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:33904913
- GRCh38:
- Chr17:35577894
| PEX12 | | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B | Likely pathogenic
(Nov 29, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:33904515
- GRCh38:
- Chr17:35577496
| PEX12 | Y74* | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
| Pathogenic/Likely pathogenic
(Jun 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33904337-33904345
- GRCh38:
- Chr17:35577318-35577326
| PEX12 | | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
| Uncertain significance
(Jun 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33903136-33903137
- GRCh38:
- Chr17:35576117-35576118
| PEX12 | T249fs | not provided, Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger),
Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder | Pathogenic/Likely pathogenic
(Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33903110
- GRCh38:
- Chr17:35576091
| PEX12 | L258fs | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B | Likely pathogenic
(Sep 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:33904543-33904547
- GRCh38:
- Chr17:35577524-35577528
| PEX12 | T64fs | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B | Likely pathogenic
(Aug 30, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:33903100
- GRCh38:
- Chr17:35576081
| PEX12 | D262fs | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
| Pathogenic/Likely pathogenic
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33904964-33904965
- GRCh38:
- Chr17:35577945-35577946
| PEX12 | | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
| Pathogenic/Likely pathogenic
(Jun 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33904306-33904308
- GRCh38:
- Chr17:35577287-35577289
| PEX12 | | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B | Likely pathogenic
(Jul 7, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:33904073
- GRCh38:
- Chr17:35577054
| PEX12 | Q222* | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B | Likely pathogenic
(Jun 30, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:33903011-33903016
- GRCh38:
- Chr17:35575992-35575997
| PEX12 | | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B | Uncertain significance
(Jun 8, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:33902903
- GRCh38:
- Chr17:35575884
| PEX12 | Y326* | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B | Likely pathogenic
(Jun 5, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:33903191-33903194
- GRCh38:
- Chr17:35576172-35576175
| PEX12 | S229fs | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B | Likely pathogenic
(Jun 2, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:33904133
- GRCh38:
- Chr17:35577114
| PEX12 | R202* | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
| Pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33904277
- GRCh38:
- Chr17:35577258
| PEX12 | R154* | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B | Likely pathogenic
(Apr 24, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:33903092
- GRCh38:
- Chr17:35576073
| PEX12 | W263* | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
| Pathogenic/Likely pathogenic
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33904526
- GRCh38:
- Chr17:35577507
| PEX12 | Q71* | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
| Pathogenic/Likely pathogenic
(Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33904992
- GRCh38:
- Chr17:35577973
| PEX12 | Q17* | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
| Pathogenic/Likely pathogenic
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33904552-33904553
- GRCh38:
- Chr17:35577533-35577534
| PEX12 | | not provided, Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger),
Peroxisome biogenesis disorder 3A (Zellweger) | Uncertain significance
(May 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33903094-33903096
- GRCh38:
- Chr17:35576075-35576077
| PEX12 | | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
| Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33904513-33904514
- GRCh38:
- Chr17:35577494-35577495
| PEX12 | L75fs | Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
| Pathogenic/Likely pathogenic
(Jun 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33904531-33904533
- GRCh38:
- Chr17:35577512-35577514
| PEX12 | L70del | Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger),
Peroxisome biogenesis disorder | Uncertain significance
(Mar 5, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33903144
- GRCh38:
- Chr17:35576125
| PEX12 | S246Y | not specified, not provided, Peroxisome biogenesis disorder 3A (Zellweger),
Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33904466-33904469
- GRCh38:
- Chr17:35577447-35577450
| PEX12 | K90fs | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder type 3B,
Peroxisome biogenesis disorder 3A (Zellweger), not provided | Pathogenic/Likely pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33904385
- GRCh38:
- Chr17:35577366
| PEX12 | M118V | not provided, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B,
Peroxisome biogenesis disorder 3A (Zellweger) | Uncertain significance
(Aug 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33902872
- GRCh38:
- Chr17:35575853
| PEX12 | Q337* | Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), not provided,
Peroxisome biogenesis disorder 3A (Zellweger) | Conflicting interpretations of pathogenicity
(Jun 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:33904202-33904204
- GRCh38:
- Chr17:35577183-35577185
| PEX12 | Q178del | Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
| Likely pathogenic
(May 3, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33904367-33904369
- GRCh38:
- Chr17:35577348-35577350
| PEX12 | L123del | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder type 3B,
Peroxisome biogenesis disorder 3A (Zellweger), not provided, not specified
| Conflicting interpretations of pathogenicity
(Oct 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:33903194-33903197
- GRCh38:
- Chr17:35576175-35576178
| PEX12 | S229fs | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B | Likely pathogenic
(Aug 16, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:33903147-33903148
- GRCh38:
- Chr17:35576128-35576129
| PEX12 | L245fs | Peroxisome biogenesis disorder 3A (Zellweger), not provided, Peroxisome biogenesis disorder,
Peroxisome biogenesis disorder type 3B | Pathogenic/Likely pathogenic
(Jun 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33904914
- GRCh38:
- Chr17:35577895
| PEX12 | | Peroxisome biogenesis disorder 3A (Zellweger), not provided, Peroxisome biogenesis disorder type 3B,
Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder | Pathogenic/Likely pathogenic
(Aug 29, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33904384
- GRCh38:
- Chr17:35577365
| PEX12 | M118T | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
| Uncertain significance
(Sep 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33904388
- GRCh38:
- Chr17:35577369
| PEX12 | I117V | Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), not provided,
Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger) | Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33904403
- GRCh38:
- Chr17:35577384
| PEX12 | Q112* | Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
| Pathogenic/Likely pathogenic
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33905066
- GRCh38:
- Chr17:35578047
| PEX12 | | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, not provided,
Peroxisome biogenesis disorder 3A (Zellweger) | Uncertain significance
(Nov 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33902987
- GRCh38:
- Chr17:35575968
| PEX12 | | Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), not provided,
Peroxisome biogenesis disorder 3A (Zellweger) | Pathogenic/Likely pathogenic
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33902992-33902993
- GRCh38:
- Chr17:35575973-35575974
| PEX12 | L297fs | Inborn genetic diseases, Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger),
not provided, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder,
Peroxisome biogenesis disorder type 3B | Pathogenic
(Feb 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33904939
- GRCh38:
- Chr17:35577920
| PEX12 | R34S | Peroxisome biogenesis disorder type 3B, not provided, Peroxisome biogenesis disorder 3A (Zellweger),
not specified, Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
| Benign/Likely benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:33902932
- GRCh38:
- Chr17:35575913
| PEX12 | L317F | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:33904199
- GRCh38:
- Chr17:35577180
| PEX12 | R180* | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger),
Peroxisome biogenesis disorder | Pathogenic
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |