| 8556675 | CV17199 | insertion | PEX26, 1-BP INS, 254T | Peroxisome biogenesis disorder 7A [RCV000002243] | pathogenic | | | | Human | | name |
| 11631595 | CV347062 | single nucleotide variant | NM_017929.5(PEX26):c.-148C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000383177]|not provided [RCV001559875] | benign|likely benign | 22 | 18077981 | 18077981 | Human | 1 | name |
| 11654912 | CV352135 | single nucleotide variant | NM_017929.5(PEX26):c.-167C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000321765] | uncertain significance | 22 | 18077962 | 18077962 | Human | 1 | name |
| 28895330 | CV887213 | single nucleotide variant | NM_017929.5(PEX26):c.-207T>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001140833] | uncertain significance | 22 | 18077922 | 18077922 | Human | 1 | name |
| 28895332 | CV887214 | single nucleotide variant | NM_017929.5(PEX26):c.-203G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001140834] | uncertain significance | 22 | 18077926 | 18077926 | Human | 1 | name |
| 28900217 | CV887215 | single nucleotide variant | NM_017929.5(PEX26):c.-164G>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001142678] | uncertain significance | 22 | 18077965 | 18077965 | Human | 1 | name |
| 9688755 | CV177937 | single nucleotide variant | NM_001127649.3(PEX26):c.*10C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000363205]|not provided [RCV000587435]|not specified [RCV000153684] | benign|likely benign | 22 | 18088085 | 18088085 | Human | 1 | name |
| 28900219 | CV887216 | single nucleotide variant | NM_001127649.3(PEX26):c.-80C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001142679] | uncertain significance | 22 | 18078297 | 18078297 | Human | 1 | name |
| 28875292 | CV890850 | single nucleotide variant | NM_001127649.3(PEX26):c.*36G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001147587] | uncertain significance | 22 | 18088111 | 18088111 | Human | 1 | name |
| 11616013 | CV337464 | single nucleotide variant | NM_001127649.3(PEX26):c.-381C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000291168] | uncertain significance | 22 | 18077996 | 18077996 | Human | 1 | name |
| 11619416 | CV337466 | single nucleotide variant | NM_001127649.3(PEX26):c.-375G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000325139] | uncertain significance | 22 | 18078002 | 18078002 | Human | 1 | name |
| 11620080 | CV337498 | single nucleotide variant | NM_001127649.3(PEX26):c.*113G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000332971] | uncertain significance | 22 | 18088188 | 18088188 | Human | 1 | name |
| 11658021 | CV337499 | single nucleotide variant | NM_001127649.3(PEX26):c.*812C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000346073] | uncertain significance | 22 | 18088887 | 18088887 | Human | 1 | name |
| 11622732 | CV337502 | single nucleotide variant | NM_001127649.3(PEX26):c.*912C>T | Peroxisome biogenesis disorder 1A (Zellweger) [RCV000363671] | uncertain significance | 22 | 18088987 | 18088987 | Human | 1 | name |
| 11618546 | CV337503 | single nucleotide variant | NM_001127649.3(PEX26):c.*925A>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000314877] | likely benign|uncertain significance | 22 | 18089000 | 18089000 | Human | 1 | name |
| 11623352 | CV337510 | single nucleotide variant | NM_001127649.3(PEX26):c.*977C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000371975] | uncertain significance | 22 | 18089052 | 18089052 | Human | 1 | name |
| 11626820 | CV347071 | single nucleotide variant | NM_001127649.3(PEX26):c.*112C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000270864] | uncertain significance | 22 | 18088187 | 18088187 | Human | 1 | name |
| 11629706 | CV347074 | single nucleotide variant | NM_001127649.3(PEX26):c.*167G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000331781]|not provided [RCV001675841] | benign | 22 | 18088242 | 18088242 | Human | 1 | name |
| 11631316 | CV347075 | single nucleotide variant | NM_001127649.3(PEX26):c.*280G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000374658] | uncertain significance | 22 | 18088355 | 18088355 | Human | 1 | name |
| 11627383 | CV347076 | single nucleotide variant | NM_001127649.3(PEX26):c.*400C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000281724]|not provided [RCV004713756] | benign|likely benign | 22 | 18088475 | 18088475 | Human | 1 | name |
| 11649006 | CV347077 | single nucleotide variant | NM_001127649.3(PEX26):c.*568G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000285087] | uncertain significance | 22 | 18088643 | 18088643 | Human | 1 | name |
| 11632283 | CV347080 | single nucleotide variant | NM_001127649.3(PEX26):c.*828C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000404028] | uncertain significance | 22 | 18088903 | 18088903 | Human | 1 | name |
| 11631823 | CV351115 | single nucleotide variant | NM_001127649.3(PEX26):c.*114C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000389759] | likely benign|uncertain significance | 22 | 18088189 | 18088189 | Human | 1 | name |
| 11629824 | CV351118 | single nucleotide variant | NM_001127649.3(PEX26):c.*464A>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000334452]|not provided [RCV004713757] | benign|likely benign | 22 | 18088539 | 18088539 | Human | 1 | name |
| 11632322 | CV351122 | single nucleotide variant | NM_001127649.3(PEX26):c.*692T>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000404221] | benign|likely benign | 22 | 18088767 | 18088767 | Human | 1 | name |
| 11628488 | CV351123 | single nucleotide variant | NM_001127649.3(PEX26):c.*754A>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000302867] | benign|likely benign | 22 | 18088829 | 18088829 | Human | 1 | name |
| 11631077 | CV351126 | single nucleotide variant | NM_001127649.3(PEX26):c.*943G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000367244] | benign|likely benign | 22 | 18089018 | 18089018 | Human | 1 | name |
| 11627053 | CV351127 | single nucleotide variant | NM_001127649.3(PEX26):c.*944C>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000275142] | benign|likely benign | 22 | 18089019 | 18089019 | Human | 1 | name |
| 11629211 | CV351130 | single nucleotide variant | NM_001127649.3(PEX26):c.*954T>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000318493] | uncertain significance | 22 | 18089029 | 18089029 | Human | 1 | name |
| 11631568 | CV352136 | single nucleotide variant | NM_001127649.3(PEX26):c.-363G>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000382099]|not provided [RCV001613121] | benign|likely benign | 22 | 18078014 | 18078014 | Human | 1 | name |
| 11628057 | CV352137 | single nucleotide variant | NM_001127649.3(PEX26):c.-318A>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000294741]|not provided [RCV001613122] | benign|likely benign | 22 | 18078059 | 18078059 | Human | 1 | name |
| 11627052 | CV352138 | single nucleotide variant | NM_001127649.3(PEX26):c.*133C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000274220] | uncertain significance | 22 | 18088208 | 18088208 | Human | 1 | name |
| 11661027 | CV352139 | single nucleotide variant | NM_001127649.3(PEX26):c.*533A>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000372781] | uncertain significance | 22 | 18088608 | 18088608 | Human | 1 | name |
| 11628724 | CV352140 | single nucleotide variant | NM_001127649.3(PEX26):c.*829A>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000306534]|not provided [RCV004713758] | benign | 22 | 18088904 | 18088904 | Human | 1 | name |
| 11627105 | CV352141 | single nucleotide variant | NM_001127649.3(PEX26):c.*917C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000276104]|not provided [RCV004713759] | benign|likely benign | 22 | 18088992 | 18088992 | Human | 1 | name |
| 11626267 | CV352142 | single nucleotide variant | NM_001127649.3(PEX26):c.*987T>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000260942]|not provided [RCV004713760] | benign | 22 | 18089062 | 18089062 | Human | 1 | name |
| 28875295 | CV890851 | single nucleotide variant | NM_001127649.3(PEX26):c.*122A>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001147588] | uncertain significance | 22 | 18088197 | 18088197 | Human | 1 | name |
| 28875297 | CV890852 | single nucleotide variant | NM_001127649.3(PEX26):c.*279G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001147589] | likely benign | 22 | 18088354 | 18088354 | Human | 1 | name |
| 28885593 | CV890853 | single nucleotide variant | NM_001127649.3(PEX26):c.*439C>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001150913]|not provided [RCV004694942] | uncertain significance | 22 | 18088514 | 18088514 | Human | 1 | name |
| 28885598 | CV890854 | single nucleotide variant | NM_001127649.3(PEX26):c.*566T>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001150914] | likely benign | 22 | 18088641 | 18088641 | Human | 1 | name |
| 28885602 | CV890855 | single nucleotide variant | NM_001127649.3(PEX26):c.*578A>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001150915] | uncertain significance | 22 | 18088653 | 18088653 | Human | 1 | name |
| 28905240 | CV890856 | single nucleotide variant | NM_001127649.3(PEX26):c.*662C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001144815] | uncertain significance | 22 | 18088737 | 18088737 | Human | 1 | name |
| 28905243 | CV890857 | single nucleotide variant | NM_001127649.3(PEX26):c.*802A>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001144816] | uncertain significance | 22 | 18088877 | 18088877 | Human | 1 | name |
| 28873480 | CV890858 | single nucleotide variant | NM_001127649.3(PEX26):c.*829A>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001146780] | uncertain significance | 22 | 18088904 | 18088904 | Human | 1 | name |
| 151766438 | CV1359163 | single nucleotide variant | NM_001127649.3(PEX26):c.815-7C>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001970746] | likely benign|uncertain significance | 22 | 18087965 | 18087965 | Human | 1 | name |
| 151746290 | CV1439420 | single nucleotide variant | NM_001127649.3(PEX26):c.372-9G>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001985761] | uncertain significance | 22 | 18083428 | 18083428 | Human | 1 | name |
| 151867798 | CV1491900 | single nucleotide variant | NM_001127649.3(PEX26):c.667+2T>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002018562]|Peroxisome biogenesis disorder [RCV002509745] | pathogenic|likely pathogenic | 22 | 18083734 | 18083734 | Human | 3 | name |
| 151811459 | CV1516861 | single nucleotide variant | NM_001127649.3(PEX26):c.668-2A>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002012478] | likely pathogenic | 22 | 18085110 | 18085110 | Human | 1 | name |
| 152152933 | CV1664589 | single nucleotide variant | NM_001127649.3(PEX26):c.371+8T>G | PEX26-related disorder [RCV003960883]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002158459] | likely benign | 22 | 18080022 | 18080022 | Human | 2 | name , trait , alternate_id |
| 153304074 | CV1690610 | single nucleotide variant | NM_001127649.3(PEX26):c.230+6T>A | not provided [RCV002269654] | uncertain significance | 22 | 18078612 | 18078612 | Human | | name |
| 8556674 | CV17198 | single nucleotide variant | NM_001127649.3(PEX26):c.230+1G>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000002242]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001851574]|Peroxisome biogenesis disorder [RCV002509142] | pathogenic | 22 | 18078607 | 18078607 | Human | 3 | name |
| 156077378 | CV2025736 | deletion | NM_001127649.3(PEX26):c.815-6del | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002760514] | likely benign | 22 | 18087964 | 18087964 | Human | 1 | name |
| 156042724 | CV2049804 | single nucleotide variant | NM_001127649.3(PEX26):c.815-5T>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002796496] | likely benign | 22 | 18087967 | 18087967 | Human | 1 | name |
| 156305308 | CV2129731 | single nucleotide variant | NM_001127649.3(PEX26):c.815-4G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002962336] | likely benign | 22 | 18087968 | 18087968 | Human | 1 | name |
| 156247974 | CV2174402 | single nucleotide variant | NM_001127649.3(PEX26):c.668-3C>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003043685] | uncertain significance | 22 | 18085109 | 18085109 | Human | 1 | name |
| 401950393 | CV2834830 | single nucleotide variant | NM_001127649.3(PEX26):c.814+1G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003476818] | likely pathogenic | 22 | 18085259 | 18085259 | Human | 1 | name |
| 401950397 | CV2834834 | single nucleotide variant | NM_001127649.3(PEX26):c.230+1G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003476822] | pathogenic | 22 | 18078607 | 18078607 | Human | 1 | name |
| 402509268 | CV3088904 | single nucleotide variant | NM_001127649.3(PEX26):c.372-4G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003780108] | likely benign | 22 | 18083433 | 18083433 | Human | 1 | name |
| 405153374 | CV3102001 | single nucleotide variant | NM_001127649.3(PEX26):c.371+8T>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003801606] | likely benign | 22 | 18080022 | 18080022 | Human | 1 | name |
| 405010769 | CV3109187 | single nucleotide variant | NM_001127649.3(PEX26):c.372-2A>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003804855] | likely pathogenic | 22 | 18083435 | 18083435 | Human | 1 | name |
| 405111410 | CV3110772 | single nucleotide variant | NM_001127649.3(PEX26):c.667+8A>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003813675] | likely benign | 22 | 18083740 | 18083740 | Human | 1 | name |
| 405083101 | CV3113565 | single nucleotide variant | NM_001127649.3(PEX26):c.814+8G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003810582] | likely benign | 22 | 18085266 | 18085266 | Human | 1 | name |
| 405012266 | CV3113974 | single nucleotide variant | NM_001127649.3(PEX26):c.230+7G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003804996] | likely benign | 22 | 18078613 | 18078613 | Human | 1 | name |
| 11657538 | CV337492 | single nucleotide variant | NM_001127649.3(PEX26):c.230+8C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000342218]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002520040] | likely benign|uncertain significance | 22 | 18078614 | 18078614 | Human | 1 | name |
| 11621016 | CV337513 | single nucleotide variant | NM_001127649.3(PEX26):c.*1283C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000343723] | benign|likely benign | 22 | 18089358 | 18089358 | Human | 1 | name |
| 11621986 | CV337515 | single nucleotide variant | NM_001127649.3(PEX26):c.*1669C>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000354949]|not provided [RCV004713764] | benign|likely benign | 22 | 18089744 | 18089744 | Human | 1 | name |
| 11619395 | CV337520 | single nucleotide variant | NM_001127649.3(PEX26):c.*1720G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000324823] | uncertain significance | 22 | 18089795 | 18089795 | Human | 1 | name |
| 11619634 | CV337522 | single nucleotide variant | NM_001127649.3(PEX26):c.*1859A>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000327867]|not provided [RCV004713765] | benign|likely benign | 22 | 18089934 | 18089934 | Human | 1 | name |
| 11624329 | CV337523 | single nucleotide variant | NM_001127649.3(PEX26):c.*1957G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000384729] | benign|likely benign | 22 | 18090032 | 18090032 | Human | 1 | name |
| 11655622 | CV337524 | deletion | NM_001127649.3(PEX26):c.*2070del | Peroxisome biogenesis disorder 1A (Zellweger) [RCV000327184] | uncertain significance | 22 | 18090140 | 18090140 | Human | 1 | name |
| 11616652 | CV337530 | single nucleotide variant | NM_001127649.3(PEX26):c.*2162G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000296737]|not provided [RCV002263618] | benign|likely benign|uncertain significance | 22 | 18090237 | 18090237 | Human | 1 | name |
| 11646699 | CV337538 | single nucleotide variant | NM_001127649.3(PEX26):c.*2768C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000272444] | uncertain significance | 22 | 18090843 | 18090843 | Human | 1 | name |
| 11655327 | CV337540 | duplication | NM_001127649.3(PEX26):c.*2799dup | Peroxisome biogenesis disorder 1A (Zellweger) [RCV000325145] | uncertain significance | 22 | 18090869 | 18090870 | Human | 1 | name |
| 11661782 | CV347081 | single nucleotide variant | NM_001127649.3(PEX26):c.*1136G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000380010] | uncertain significance | 22 | 18089211 | 18089211 | Human | 1 | name |
| 11648639 | CV347082 | single nucleotide variant | NM_001127649.3(PEX26):c.*1152G>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000283054] | uncertain significance | 22 | 18089227 | 18089227 | Human | 1 | name |
| 11628985 | CV347085 | single nucleotide variant | NM_001127649.3(PEX26):c.*1623G>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000312346] | benign|likely benign | 22 | 18089698 | 18089698 | Human | 1 | name |
| 11632054 | CV347091 | single nucleotide variant | NM_001127649.3(PEX26):c.*1635G>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000397135]|not provided [RCV004713763] | benign | 22 | 18089710 | 18089710 | Human | 1 | name |
| 11627757 | CV347095 | single nucleotide variant | NM_001127649.3(PEX26):c.*2051A>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000288555]|not provided [RCV004713766] | benign | 22 | 18090126 | 18090126 | Human | 1 | name |
| 11627393 | CV347096 | single nucleotide variant | NM_001127649.3(PEX26):c.*2311G>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000281335] | likely benign|uncertain significance | 22 | 18090386 | 18090386 | Human | 1 | name |
| 11628534 | CV347108 | single nucleotide variant | NM_001127649.3(PEX26):c.*2701G>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000302945] | benign|likely benign | 22 | 18090776 | 18090776 | Human | 1 | name |
| 11630975 | CV347114 | single nucleotide variant | NM_001127649.3(PEX26):c.*2724G>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000364701] | uncertain significance | 22 | 18090799 | 18090799 | Human | 1 | name |
| 11629426 | CV351131 | single nucleotide variant | NM_001127649.3(PEX26):c.*1003T>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000323003] | benign|likely benign | 22 | 18089078 | 18089078 | Human | 1 | name |
| 11630087 | CV351133 | single nucleotide variant | NM_001127649.3(PEX26):c.*1171G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000340357] | uncertain significance | 22 | 18089246 | 18089246 | Human | 1 | name |
| 11631642 | CV351134 | single nucleotide variant | NM_001127649.3(PEX26):c.*1194G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000383400]|not provided [RCV004694654] | uncertain significance | 22 | 18089269 | 18089269 | Human | 1 | name |
| 11627889 | CV351137 | single nucleotide variant | NM_001127649.3(PEX26):c.*1265T>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000291367]|not provided [RCV004713761] | benign | 22 | 18089340 | 18089340 | Human | 1 | name |
| 11628044 | CV351138 | single nucleotide variant | NM_001127649.3(PEX26):c.*1590G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000294517]|not provided [RCV004713762] | benign|likely benign | 22 | 18089665 | 18089665 | Human | 1 | name |
| 11659137 | CV351140 | single nucleotide variant | NM_001127649.3(PEX26):c.*1631G>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000355351] | uncertain significance | 22 | 18089706 | 18089706 | Human | 1 | name |
| 11630752 | CV351142 | single nucleotide variant | NM_001127649.3(PEX26):c.*1740C>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000358531] | likely benign|uncertain significance | 22 | 18089815 | 18089815 | Human | 1 | name |
| 11630395 | CV351144 | single nucleotide variant | NM_001127649.3(PEX26):c.*2281T>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000349159]|not provided [RCV004713767] | benign | 22 | 18090356 | 18090356 | Human | 1 | name |
| 11652254 | CV351147 | single nucleotide variant | NM_001127649.3(PEX26):c.*2452G>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000303980] | uncertain significance | 22 | 18090527 | 18090527 | Human | 1 | name |
| 11630502 | CV352143 | single nucleotide variant | NM_001127649.3(PEX26):c.*1608G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000351724] | benign|likely benign | 22 | 18089683 | 18089683 | Human | 1 | name |
| 11645756 | CV352144 | single nucleotide variant | NM_001127649.3(PEX26):c.*1684T>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000267271] | uncertain significance | 22 | 18089759 | 18089759 | Human | 1 | name |
| 11626528 | CV352145 | single nucleotide variant | NM_001127649.3(PEX26):c.*1778C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000265798] | benign|likely benign | 22 | 18089853 | 18089853 | Human | 1 | name |
| 11631807 | CV352148 | single nucleotide variant | NM_001127649.3(PEX26):c.*2155A>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000388649] | uncertain significance | 22 | 18090230 | 18090230 | Human | 1 | name |
| 11664632 | CV352149 | single nucleotide variant | NM_001127649.3(PEX26):c.*2285C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000407752] | uncertain significance | 22 | 18090360 | 18090360 | Human | 1 | name |
| 11630000 | CV352150 | single nucleotide variant | NM_001127649.3(PEX26):c.*2386C>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000338781] | uncertain significance | 22 | 18090461 | 18090461 | Human | 1 | name |
| 11631848 | CV352151 | single nucleotide variant | NM_001127649.3(PEX26):c.*2449C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000390568] | uncertain significance | 22 | 18090524 | 18090524 | Human | 1 | name |
| 11630871 | CV352152 | single nucleotide variant | NM_001127649.3(PEX26):c.*2479G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000360995] | uncertain significance | 22 | 18090554 | 18090554 | Human | 1 | name |
| 11664161 | CV352153 | single nucleotide variant | NM_001127649.3(PEX26):c.*2647G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000402979] | uncertain significance | 22 | 18090722 | 18090722 | Human | 1 | name |
| 11627101 | CV352154 | single nucleotide variant | NM_001127649.3(PEX26):c.*2878C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000276036] | benign|likely benign | 22 | 18090953 | 18090953 | Human | 1 | name |
| 597921669 | CV3865787 | single nucleotide variant | NM_001127649.3(PEX26):c.668-7T>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005223593] | likely benign | 22 | 18085105 | 18085105 | Human | 1 | name |
| 597891598 | CV3867922 | single nucleotide variant | NM_001127649.3(PEX26):c.371+1G>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005218950] | likely pathogenic | 22 | 18080015 | 18080015 | Human | 1 | name |
| 597837336 | CV3874614 | single nucleotide variant | NM_001127649.3(PEX26):c.668-8C>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005210535] | likely benign | 22 | 18085104 | 18085104 | Human | 1 | name |
| 13516911 | CV491264 | single nucleotide variant | NM_001127649.3(PEX26):c.668-5G>T | PEX26-related disorder [RCV004754488]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002065164]|not provided [RCV000596109] | likely benign|uncertain significance | 22 | 18085107 | 18085107 | Human | 2 | name , trait , alternate_id |
| 13522000 | CV493262 | single nucleotide variant | NM_001127649.3(PEX26):c.815-6C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002532627]|not provided [RCV000591178] | likely benign|uncertain significance | 22 | 18087966 | 18087966 | Human | 1 | name |
| 13520923 | CV495760 | deletion | NM_001127649.3(PEX26):c.667+1del | not provided [RCV000599031] | likely pathogenic | 22 | 18083732 | 18083732 | Human | | name |
| 13833621 | CV584856 | single nucleotide variant | NM_001127649.3(PEX26):c.667+8A>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001085287]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001146682]|not provided [RCV000728930] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 22 | 18083740 | 18083740 | Human | 1 | name |
| 13835064 | CV586318 | single nucleotide variant | NM_001127649.3(PEX26):c.230+3A>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001202633]|not provided [RCV000730758] | uncertain significance | 22 | 18078609 | 18078609 | Human | 1 | name |
| 13837070 | CV588355 | single nucleotide variant | NM_001127649.3(PEX26):c.372-5T>G | not provided [RCV000733359] | uncertain significance | 22 | 18083432 | 18083432 | Human | | name |
| 28875475 | CV890859 | single nucleotide variant | NM_001127649.3(PEX26):c.*1156T>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001147681] | uncertain significance | 22 | 18089231 | 18089231 | Human | 1 | name |
| 28885963 | CV890860 | single nucleotide variant | NM_001127649.3(PEX26):c.*1488T>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001151020] | uncertain significance | 22 | 18089563 | 18089563 | Human | 1 | name |
| 28885967 | CV890861 | single nucleotide variant | NM_001127649.3(PEX26):c.*1493C>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001151021] | uncertain significance | 22 | 18089568 | 18089568 | Human | 1 | name |
| 28885973 | CV890862 | single nucleotide variant | NM_001127649.3(PEX26):c.*1509C>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001151022] | uncertain significance | 22 | 18089584 | 18089584 | Human | 1 | name |
| 28885977 | CV890863 | single nucleotide variant | NM_001127649.3(PEX26):c.*1618G>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001151023] | uncertain significance | 22 | 18089693 | 18089693 | Human | 1 | name |
| 28869425 | CV890864 | single nucleotide variant | NM_001127649.3(PEX26):c.*1627G>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001144923] | uncertain significance | 22 | 18089702 | 18089702 | Human | 1 | name |
| 28869429 | CV890865 | single nucleotide variant | NM_001127649.3(PEX26):c.*1639G>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001144924]|not provided [RCV004694898] | uncertain significance | 22 | 18089714 | 18089714 | Human | 1 | name |
| 28873698 | CV890866 | single nucleotide variant | NM_001127649.3(PEX26):c.*1922C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001146880] | uncertain significance | 22 | 18089997 | 18089997 | Human | 1 | name |
| 28873702 | CV890867 | single nucleotide variant | NM_001127649.3(PEX26):c.*1928A>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001146881] | uncertain significance | 22 | 18090003 | 18090003 | Human | 1 | name |
| 28873706 | CV890868 | single nucleotide variant | NM_001127649.3(PEX26):c.*1957G>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001146882] | uncertain significance | 22 | 18090032 | 18090032 | Human | 1 | name |
| 28875703 | CV890869 | single nucleotide variant | NM_001127649.3(PEX26):c.*2195A>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001147783] | uncertain significance | 22 | 18090270 | 18090270 | Human | 1 | name |
| 28875705 | CV890870 | single nucleotide variant | NM_001127649.3(PEX26):c.*2282G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001147784] | uncertain significance | 22 | 18090357 | 18090357 | Human | 1 | name |
| 28875709 | CV890871 | single nucleotide variant | NM_001127649.3(PEX26):c.*2308A>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001147785] | uncertain significance | 22 | 18090383 | 18090383 | Human | 1 | name |
| 28880464 | CV890872 | single nucleotide variant | NM_001127649.3(PEX26):c.*2339G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001149331] | uncertain significance | 22 | 18090414 | 18090414 | Human | 1 | name |
| 28880468 | CV890873 | single nucleotide variant | NM_001127649.3(PEX26):c.*2369C>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001149332] | uncertain significance | 22 | 18090444 | 18090444 | Human | 1 | name |
| 28880472 | CV890874 | single nucleotide variant | NM_001127649.3(PEX26):c.*2370T>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001149333] | uncertain significance | 22 | 18090445 | 18090445 | Human | 1 | name |
| 28869686 | CV890875 | single nucleotide variant | NM_001127649.3(PEX26):c.*2523C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001145027] | uncertain significance | 22 | 18090598 | 18090598 | Human | 1 | name |
| 28869688 | CV890876 | single nucleotide variant | NM_001127649.3(PEX26):c.*2604G>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001145028] | uncertain significance | 22 | 18090679 | 18090679 | Human | 1 | name |
| 28869691 | CV890877 | single nucleotide variant | NM_001127649.3(PEX26):c.*2651C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001145029] | uncertain significance | 22 | 18090726 | 18090726 | Human | 1 | name |
| 28869693 | CV890878 | single nucleotide variant | NM_001127649.3(PEX26):c.*2703G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001145030]|not provided [RCV004704452] | likely benign | 22 | 18090778 | 18090778 | Human | 1 | name |
| 28873924 | CV890879 | single nucleotide variant | NM_001127649.3(PEX26):c.*2810G>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001146980] | uncertain significance | 22 | 18090885 | 18090885 | Human | 1 | name |
| 28873927 | CV890880 | single nucleotide variant | NM_001127649.3(PEX26):c.*2904T>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001146981] | uncertain significance | 22 | 18090979 | 18090979 | Human | 1 | name |
| 38491786 | CV941272 | single nucleotide variant | NM_001127649.3(PEX26):c.371+6T>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001223079]|not specified [RCV004782672] | uncertain significance | 22 | 18080020 | 18080020 | Human | 1 | name |
| 127291472 | CV1128985 | single nucleotide variant | NM_001127649.3(PEX26):c.371+19C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001451497] | likely benign | 22 | 18080033 | 18080033 | Human | 1 | name |
| 150490079 | CV1239052 | single nucleotide variant | NM_001127649.3(PEX26):c.231-45T>G | not provided [RCV001654620] | benign | 22 | 18079829 | 18079829 | Human | | name |
| 152063172 | CV1542251 | single nucleotide variant | NM_001127649.3(PEX26):c.668-20T>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002208948] | likely benign | 22 | 18085092 | 18085092 | Human | 1 | name |
| 152032082 | CV1548914 | single nucleotide variant | NM_001127649.3(PEX26):c.231-19T>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002086506] | likely benign | 22 | 18079855 | 18079855 | Human | 1 | name |
| 152119409 | CV1558495 | single nucleotide variant | NM_001127649.3(PEX26):c.668-18C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002135514] | likely benign | 22 | 18085094 | 18085094 | Human | 1 | name |
| 152135359 | CV1560351 | single nucleotide variant | NM_001127649.3(PEX26):c.814+10G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002137466] | likely benign | 22 | 18085268 | 18085268 | Human | 1 | name |
| 152088904 | CV1563006 | single nucleotide variant | NM_001127649.3(PEX26):c.230+15C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002113797] | likely benign | 22 | 18078621 | 18078621 | Human | 1 | name |
| 152053554 | CV1575064 | duplication | NM_001127649.3(PEX26):c.372-12dup | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002109272] | benign | 22 | 18083419 | 18083420 | Human | 1 | name |
| 152164553 | CV1588512 | single nucleotide variant | NM_001127649.3(PEX26):c.371+14G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002181559] | likely benign | 22 | 18080028 | 18080028 | Human | 1 | name |
| 152071272 | CV1591560 | single nucleotide variant | NM_001127649.3(PEX26):c.372-18G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002210011] | likely benign | 22 | 18083419 | 18083419 | Human | 1 | name |
| 152117915 | CV1594822 | single nucleotide variant | NM_001127649.3(PEX26):c.231-15T>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002197648] | likely benign | 22 | 18079859 | 18079859 | Human | 1 | name |
| 152160888 | CV1606069 | single nucleotide variant | NM_001127649.3(PEX26):c.667+20C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002180913] | likely benign | 22 | 18083752 | 18083752 | Human | 1 | name |
| 152155758 | CV1620610 | single nucleotide variant | NM_001127649.3(PEX26):c.667+13C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002122391] | likely benign | 22 | 18083745 | 18083745 | Human | 1 | name |
| 152160474 | CV1650148 | single nucleotide variant | NM_001127649.3(PEX26):c.815-19G>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002159546] | likely benign | 22 | 18087953 | 18087953 | Human | 1 | name |
| 10052825 | CV195386 | single nucleotide variant | NM_001127649.3(PEX26):c.815-10T>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002054132]|not provided [RCV000179497] | likely benign|uncertain significance | 22 | 18087962 | 18087962 | Human | 1 | name |
| 156410338 | CV1958329 | single nucleotide variant | NM_001127649.3(PEX26):c.814+17C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002587120] | likely benign | 22 | 18085275 | 18085275 | Human | 1 | name |
| 156130011 | CV1962657 | single nucleotide variant | NM_001127649.3(PEX26):c.230+12G>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002572191] | likely benign | 22 | 18078618 | 18078618 | Human | 1 | name |
| 156288072 | CV2050274 | single nucleotide variant | NM_001127649.3(PEX26):c.230+16G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002807233] | likely benign | 22 | 18078622 | 18078622 | Human | 1 | name |
| 155910297 | CV2069348 | single nucleotide variant | NM_001127649.3(PEX26):c.230+10G>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002837658] | likely benign | 22 | 18078616 | 18078616 | Human | 1 | name |
| 155976553 | CV2085216 | single nucleotide variant | NM_001127649.3(PEX26):c.371+10C>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002863558] | likely benign | 22 | 18080024 | 18080024 | Human | 1 | name |
| 156121641 | CV2137595 | single nucleotide variant | NM_001127649.3(PEX26):c.814+11G>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003003005] | likely benign | 22 | 18085269 | 18085269 | Human | 1 | name |
| 404985857 | CV3083559 | single nucleotide variant | NM_001127649.3(PEX26):c.814+11G>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003781909] | likely benign | 22 | 18085269 | 18085269 | Human | 1 | name |
| 404995800 | CV3085408 | single nucleotide variant | NM_001127649.3(PEX26):c.231-16G>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003782939] | likely benign | 22 | 18079858 | 18079858 | Human | 1 | name |
| 402489325 | CV3090893 | single nucleotide variant | NM_001127649.3(PEX26):c.668-18C>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003787395] | likely benign | 22 | 18085094 | 18085094 | Human | 1 | name |
| 405017648 | CV3094131 | single nucleotide variant | NM_001127649.3(PEX26):c.668-18C>G | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003784981] | likely benign | 22 | 18085094 | 18085094 | Human | 1 | name |
| 405027056 | CV3094770 | single nucleotide variant | NM_001127649.3(PEX26):c.815-14C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003796132] | likely benign | 22 | 18087958 | 18087958 | Human | 1 | name |
| 405045561 | CV3097201 | single nucleotide variant | NM_001127649.3(PEX26):c.667+15C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003807781] | likely benign | 22 | 18083747 | 18083747 | Human | 1 | name |
| 405024466 | CV3097684 | single nucleotide variant | NM_001127649.3(PEX26):c.667+10T>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003806145] | likely benign | 22 | 18083742 | 18083742 | Human | 1 | name |
| 405051926 | CV3097907 | single nucleotide variant | NM_001127649.3(PEX26):c.668-14G>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003808320] | likely benign | 22 | 18085098 | 18085098 | Human | 1 | name |
| 404982137 | CV3100052 | single nucleotide variant | NM_001127649.3(PEX26):c.668-20T>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003791719] | likely benign | 22 | 18085092 | 18085092 | Human | 1 | name |
| 404982144 | CV3100053 | single nucleotide variant | NM_001127649.3(PEX26):c.668-17T>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003791720] | likely benign | 22 | 18085095 | 18085095 | Human | 1 | name |
| 405151997 | CV3101921 | duplication | NM_001127649.3(PEX26):c.371+20dup | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003801525] | likely benign | 22 | 18080033 | 18080034 | Human | 1 | name |
| 405066656 | CV3110936 | single nucleotide variant | NM_001127649.3(PEX26):c.372-18G>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003809440] | likely benign | 22 | 18083419 | 18083419 | Human | 1 | name |
| 405040476 | CV3112789 | single nucleotide variant | NM_001127649.3(PEX26):c.814+13G>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003807456] | likely benign | 22 | 18085271 | 18085271 | Human | 1 | name |
| 405106455 | CV3113626 | single nucleotide variant | NM_001127649.3(PEX26):c.231-10C>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003812748] | likely benign | 22 | 18079864 | 18079864 | Human | 1 | name |
| 405104453 | CV3114418 | deletion | NM_001127649.3(PEX26):c.814+22del | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003812257] | benign | 22 | 18085277 | 18085277 | Human | 1 | name |
| 405080893 | CV3114847 | single nucleotide variant | NM_001127649.3(PEX26):c.815-19G>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003810410] | likely benign | 22 | 18087953 | 18087953 | Human | 1 | name |
| 11626899 | CV351111 | single nucleotide variant | NM_001127649.3(PEX26):c.815-13C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000271599]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001519559]|not provided [RCV001571867] | benign|likely benign|uncertain significance | 22 | 18087959 | 18087959 | Human | 1 | name |
| 11657599 | CV351119 | microsatellite | NM_001127649.3(PEX26):c.*609GA[3] | Peroxisome biogenesis disorder 1A (Zellweger) [RCV000342670] | uncertain significance | 22 | 18088683 | 18088684 | Human | | name |
| 597865789 | CV3868841 | duplication | NM_001127649.3(PEX26):c.668-15dup | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005214961] | likely benign | 22 | 18085096 | 18085097 | Human | 1 | name |
| 597867014 | CV3869011 | single nucleotide variant | NM_001127649.3(PEX26):c.231-15T>A | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005215132] | likely benign | 22 | 18079859 | 18079859 | Human | 1 | name |
| 597841145 | CV3873662 | single nucleotide variant | NM_001127649.3(PEX26):c.815-20A>C | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005226489] | likely benign | 22 | 18087952 | 18087952 | Human | 1 | name |
| 28873285 | CV891805 | single nucleotide variant | NM_001127649.3(PEX26):c.814+15C>T | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001146684] | uncertain significance | 22 | 18085273 | 18085273 | Human | 1 | name |
| 150415261 | CV1178560 | single nucleotide variant | NM_001127649.3(PEX26):c.667+264T>C | not provided [RCV001548495] | likely benign | 22 | 18083996 | 18083996 | Human | | name |
| 150415804 | CV1181952 | single nucleotide variant | NM_001127649.3(PEX26):c.815-331C>A | not provided [RCV001549302] | likely benign | 22 | 18087641 | 18087641 | Human | | name |
| 150508058 | CV1213933 | single nucleotide variant | NM_001127649.3(PEX26):c.372-177C>T | not provided [RCV001596454] | likely benign | 22 | 18083260 | 18083260 | Human | | name |
| 150487169 | CV1251478 | single nucleotide variant | NM_001127649.3(PEX26):c.371+108C>T | not provided [RCV001674149] | benign | 22 | 18080122 | 18080122 | Human | | name |
| 150487618 | CV1251553 | single nucleotide variant | NM_001127649.3(PEX26):c.667+204C>T | not provided [RCV001674224] | benign | 22 | 18083936 | 18083936 | Human | | name |
| 150465423 | CV1252879 | single nucleotide variant | NM_001127649.3(PEX26):c.230+203A>T | not provided [RCV001670203] | benign | 22 | 18078809 | 18078809 | Human | | name |
| 150478288 | CV1271033 | single nucleotide variant | NM_001127649.3(PEX26):c.371+272G>A | not provided [RCV001696469] | benign | 22 | 18080286 | 18080286 | Human | | name |
| 8556672 | CV17194 | deletion | NM_001127649.3(PEX26):c.669_814+1del | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000002238] | pathogenic | | | | Human | | name |
| 11664446 | CV347093 | microsatellite | NM_001127649.3(PEX26):c.*1623GTTT[7] | Peroxisome biogenesis disorder 1A (Zellweger) [RCV000405922] | uncertain significance | 22 | 18089694 | 18089695 | Human | | name |
| 405275332 | CV3204711 | single nucleotide variant | NM_001127649.3(PEX26):c.9C>T (p.Ser3=) | PEX26-related disorder [RCV003952103] | likely benign | 22 | 18078385 | 18078385 | Human | | name , trait , alternate_id |
| 407427120 | CV3410457 | duplication | NM_001127649.3(PEX26):c.667+3_667+6dup | not specified [RCV004586104] | uncertain significance | 22 | 18083734 | 18083735 | Human | | name |
| 11632380 | CV347084 | duplication | NM_001127649.3(PEX26):c.*1532_*1535dup | Peroxisome biogenesis disorder 1A (Zellweger) [RCV000406809] | benign | 22 | 18089605 | 18089606 | Human | 1 | name |
| 11630962 | CV351148 | deletion | NM_001127649.3(PEX26):c.*2807_*2808del | Peroxisome biogenesis disorder 1A (Zellweger) [RCV000363590] | uncertain significance | 22 | 18090882 | 18090883 | Human | 1 | name |
| 152091708 | CV1567657 | single nucleotide variant | NM_001127649.3(PEX26):c.12T>C (p.Asp4=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002212817] | likely benign | 22 | 18078388 | 18078388 | Human | 1 | name |
| 152091714 | CV1567658 | single nucleotide variant | NM_001127649.3(PEX26):c.15T>C (p.Ser5=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002212818] | likely benign | 22 | 18078391 | 18078391 | Human | 1 | name |
| 402497262 | CV3092733 | single nucleotide variant | NM_001127649.3(PEX26):c.18G>A (p.Ser6=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003788196] | likely benign | 22 | 18078394 | 18078394 | Human | 1 | name |
| 127331868 | CV1128983 | single nucleotide variant | NM_001127649.3(PEX26):c.36C>T (p.Leu12=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001471825] | likely benign | 22 | 18078412 | 18078412 | Human | 1 | name |
| 151881648 | CV1375671 | single nucleotide variant | NM_001127649.3(PEX26):c.66C>T (p.Ser22=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001961770] | likely benign|uncertain significance | 22 | 18078442 | 18078442 | Human | 1 | name |
| 152166107 | CV1532489 | single nucleotide variant | NM_001127649.3(PEX26):c.30C>T (p.Ala10=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002204379] | likely benign | 22 | 18078406 | 18078406 | Human | 1 | name |
| 152049210 | CV1585509 | single nucleotide variant | NM_001127649.3(PEX26):c.99G>A (p.Pro33=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002145463] | likely benign | 22 | 18078475 | 18078475 | Human | 1 | name |
| 152152642 | CV1623252 | single nucleotide variant | NM_001127649.3(PEX26):c.39G>A (p.Arg13=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002221054] | likely benign | 22 | 18078415 | 18078415 | Human | 1 | name |
| 152121152 | CV1641266 | microsatellite | NM_001127649.3(PEX26):c.814+18_814+19del | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002198069] | likely benign | 22 | 18085273 | 18085274 | Human | | name |
| 8595641 | CV17195 | single nucleotide variant | NM_001127649.3(PEX26):c.2T>C (p.Met1Thr) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000779366]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV005024990]|Peroxisome biogenesis disorder 7B [RCV000002239]|not provided [RCV002269256] | pathogenic|likely pathogenic | 22 | 18078378 | 18078378 | Human | 2 | name |
| 156386169 | CV1874958 | microsatellite | NM_001127649.3(PEX26):c.668-16_668-15del | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003050873] | likely benign | 22 | 18085094 | 18085095 | Human | | name |
| 156023289 | CV2019487 | single nucleotide variant | NM_001127649.3(PEX26):c.55C>T (p.Leu19=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002691104] | likely benign | 22 | 18078431 | 18078431 | Human | 1 | name |
| 155905397 | CV2048090 | single nucleotide variant | NM_001127649.3(PEX26):c.48G>A (p.Gly16=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002771235] | likely benign | 22 | 18078424 | 18078424 | Human | 1 | name |
| 156158485 | CV2095022 | single nucleotide variant | NM_001127649.3(PEX26):c.57G>A (p.Leu19=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002890896] | likely benign | 22 | 18078433 | 18078433 | Human | 1 | name |
| 156211204 | CV2114452 | single nucleotide variant | NM_001127649.3(PEX26):c.75G>A (p.Val25=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002932069] | likely benign | 22 | 18078451 | 18078451 | Human | 1 | name |
| 156283349 | CV2133955 | single nucleotide variant | NM_001127649.3(PEX26):c.33C>T (p.Pro11=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003009677] | likely benign | 22 | 18078409 | 18078409 | Human | 1 | name |
| 156368009 | CV2177853 | microsatellite | NM_001127649.3(PEX26):c.371+10_371+12del | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003049480] | likely benign | 22 | 18080020 | 18080022 | Human | | name |
| 156270613 | CV2178978 | single nucleotide variant | NM_001127649.3(PEX26):c.63C>T (p.Ser21=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003044439] | likely benign | 22 | 18078439 | 18078439 | Human | 1 | name |
| 156371384 | CV2188724 | single nucleotide variant | NM_001127649.3(PEX26):c.84C>G (p.Val28=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003066312] | likely benign | 22 | 18078460 | 18078460 | Human | 1 | name |
| 402520410 | CV3091932 | single nucleotide variant | NM_001127649.3(PEX26):c.78C>G (p.Arg26=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003790378] | likely benign | 22 | 18078454 | 18078454 | Human | 1 | name |
| 405025365 | CV3097760 | single nucleotide variant | NM_001127649.3(PEX26):c.36C>G (p.Leu12=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003806221] | likely benign | 22 | 18078412 | 18078412 | Human | 1 | name |
| 405025510 | CV3097772 | single nucleotide variant | NM_001127649.3(PEX26):c.84C>T (p.Val28=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003806233] | likely benign | 22 | 18078460 | 18078460 | Human | 1 | name |
| 405033347 | CV3098725 | single nucleotide variant | NM_001127649.3(PEX26):c.96G>T (p.Ala32=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003806851] | likely benign | 22 | 18078472 | 18078472 | Human | 1 | name |
| 405017131 | CV3100720 | single nucleotide variant | NM_001127649.3(PEX26):c.45C>T (p.Leu15=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003805468] | likely benign | 22 | 18078421 | 18078421 | Human | 1 | name |
| 405002999 | CV3102126 | single nucleotide variant | NM_001127649.3(PEX26):c.87G>C (p.Pro29=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003804172] | likely benign | 22 | 18078463 | 18078463 | Human | 1 | name |
| 405169501 | CV3104236 | single nucleotide variant | NM_001127649.3(PEX26):c.30C>A (p.Ala10=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003802913] | likely benign | 22 | 18078406 | 18078406 | Human | 1 | name |
| 405171946 | CV3104608 | single nucleotide variant | NM_001127649.3(PEX26):c.87G>A (p.Pro29=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003803106] | likely benign | 22 | 18078463 | 18078463 | Human | 1 | name |
| 405058323 | CV3108235 | single nucleotide variant | NM_001127649.3(PEX26):c.69G>A (p.Glu23=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003808813] | likely benign | 22 | 18078445 | 18078445 | Human | 1 | name |
| 405072161 | CV3111481 | single nucleotide variant | NM_001127649.3(PEX26):c.36C>A (p.Leu12=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003809820] | likely benign | 22 | 18078412 | 18078412 | Human | 1 | name |
| 405109857 | CV3112578 | single nucleotide variant | NM_001127649.3(PEX26):c.72G>A (p.Pro24=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003813421] | likely benign | 22 | 18078448 | 18078448 | Human | 1 | name |
| 405011391 | CV3113915 | single nucleotide variant | NM_001127649.3(PEX26):c.90C>T (p.Ala30=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003804937] | likely benign | 22 | 18078466 | 18078466 | Human | 1 | name |
| 405262029 | CV3216540 | single nucleotide variant | NM_001127649.3(PEX26):c.87G>T (p.Pro29=) | PEX26-related disorder [RCV003944652] | likely benign | 22 | 18078463 | 18078463 | Human | | name , trait , alternate_id |
| 597920905 | CV3865535 | single nucleotide variant | NM_001127649.3(PEX26):c.78C>T (p.Arg26=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005223480] | likely benign | 22 | 18078454 | 18078454 | Human | 1 | name |
| 597922619 | CV3867220 | single nucleotide variant | NM_001127649.3(PEX26):c.3G>A (p.Met1Ile) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005223646] | pathogenic | 22 | 18078379 | 18078379 | Human | 1 | name |
| 597865324 | CV3872611 | single nucleotide variant | NM_001127649.3(PEX26):c.33C>A (p.Pro11=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005214886] | likely benign | 22 | 18078409 | 18078409 | Human | 1 | name |
| 597927035 | CV3874070 | single nucleotide variant | NM_001127649.3(PEX26):c.54C>T (p.Pro18=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005224342] | likely benign | 22 | 18078430 | 18078430 | Human | 1 | name |
| 13516478 | CV491406 | single nucleotide variant | NM_001127649.3(PEX26):c.99G>C (p.Pro33=) | PEX26-related disorder [RCV003962694]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002062059]|not provided [RCV000595573] | likely benign|uncertain significance | 22 | 18078475 | 18078475 | Human | 2 | name , trait , alternate_id |
| 13833002 | CV584229 | single nucleotide variant | NM_001127649.3(PEX26):c.48G>T (p.Gly16=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002060968]|not provided [RCV000728127] | likely benign|uncertain significance | 22 | 18078424 | 18078424 | Human | 1 | name |
| 13834485 | CV585731 | single nucleotide variant | NM_001127649.3(PEX26):c.33C>G (p.Pro11=) | PEX26-related disorder [RCV003965517]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002060988]|not provided [RCV000730019] | likely benign|uncertain significance | 22 | 18078409 | 18078409 | Human | 2 | name , trait , alternate_id |
| 127282994 | CV1107579 | single nucleotide variant | NM_001127649.3(PEX26):c.145C>T (p.Leu49=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001448203] | likely benign | 22 | 18078521 | 18078521 | Human | 1 | name |
| 127295495 | CV1128984 | single nucleotide variant | NM_001127649.3(PEX26):c.222C>T (p.Pro74=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001477107] | likely benign | 22 | 18078598 | 18078598 | Human | 1 | name |
| 151351610 | CV1322070 | deletion | NM_001127649.3(PEX26):c.34del (p.Leu12fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001806692] | pathogenic | 22 | 18078405 | 18078405 | Human | 1 | name |
| 151826032 | CV1392199 | single nucleotide variant | NM_001127649.3(PEX26):c.20C>T (p.Thr7Ile) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001879663] | uncertain significance | 22 | 18078396 | 18078396 | Human | 1 | name |
| 151733512 | CV1477571 | single nucleotide variant | NM_001127649.3(PEX26):c.174C>T (p.Cys58=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001967354] | likely benign|uncertain significance | 22 | 18078550 | 18078550 | Human | 1 | name |
| 151721389 | CV1494739 | single nucleotide variant | NM_001127649.3(PEX26):c.105G>A (p.Val35=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001966033] | likely benign|uncertain significance | 22 | 18078481 | 18078481 | Human | 1 | name |
| 151865135 | CV1495030 | single nucleotide variant | NM_001127649.3(PEX26):c.17C>T (p.Ser6Leu) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001980622] | uncertain significance | 22 | 18078393 | 18078393 | Human | 1 | name |
| 152112255 | CV1532195 | single nucleotide variant | NM_001127649.3(PEX26):c.150C>T (p.Asp50=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002116703] | likely benign | 22 | 18078526 | 18078526 | Human | 1 | name |
| 152031262 | CV1548672 | single nucleotide variant | NM_001127649.3(PEX26):c.132C>G (p.Leu44=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002086326] | likely benign | 22 | 18078508 | 18078508 | Human | 1 | name |
| 152164233 | CV1557535 | single nucleotide variant | NM_001127649.3(PEX26):c.235T>C (p.Leu79=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002141478] | likely benign | 22 | 18079878 | 18079878 | Human | 1 | name |
| 152093349 | CV1584778 | single nucleotide variant | NM_001127649.3(PEX26):c.277C>T (p.Leu93=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002114376] | likely benign | 22 | 18079920 | 18079920 | Human | 1 | name |
| 8556671 | CV17193 | duplication | NM_001127649.3(PEX26):c.34dup (p.Leu12fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000002237]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000821185]|Peroxisome biogenesis disorder 7B [RCV000662021]|Peroxisome biogenesis disorder [RCV000780590]|not provided [RCV000727235] | pathogenic | 22 | 18078404 | 18078405 | Human | 3 | name |
| 10045190 | CV188972 | single nucleotide variant | NM_001127649.3(PEX26):c.228C>T (p.Gly76=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001808443]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001852066]|not provided [RCV000171354] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 22 | 18078604 | 18078604 | Human | 1 | name |
| 156217213 | CV1910711 | single nucleotide variant | NM_001127649.3(PEX26):c.129C>T (p.Asp43=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002596317] | likely benign | 22 | 18078505 | 18078505 | Human | 1 | name |
| 156322248 | CV2101120 | single nucleotide variant | NM_001127649.3(PEX26):c.189G>A (p.Gln63=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002899380] | likely benign | 22 | 18078565 | 18078565 | Human | 1 | name |
| 156043924 | CV2157527 | single nucleotide variant | NM_001127649.3(PEX26):c.276C>A (p.Ala92=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003019164] | likely benign | 22 | 18079919 | 18079919 | Human | 1 | name |
| 11578989 | CV272010 | single nucleotide variant | NM_001127649.3(PEX26):c.198C>T (p.Ala66=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000293503]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000931054]|not specified [RCV000326011] | benign|likely benign|uncertain significance | 22 | 18078574 | 18078574 | Human | 1 | name |
| 401950398 | CV2834835 | deletion | NM_001127649.3(PEX26):c.71del (p.Pro24fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003476823] | likely pathogenic | 22 | 18078446 | 18078446 | Human | 1 | name |
| 404989502 | CV3084097 | single nucleotide variant | NM_001127649.3(PEX26):c.102C>G (p.Ala34=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003782289]|not provided [RCV004573317] | likely benign | 22 | 18078478 | 18078478 | Human | 1 | name |
| 402510080 | CV3087027 | single nucleotide variant | NM_001127649.3(PEX26):c.111T>G (p.Leu37=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003789537] | likely benign | 22 | 18078487 | 18078487 | Human | 1 | name |
| 402504291 | CV3088722 | deletion | NM_001127649.3(PEX26):c.28del (p.Ala10fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003779431] | pathogenic | 22 | 18078404 | 18078404 | Human | 1 | name |
| 402488762 | CV3094291 | single nucleotide variant | NM_001127649.3(PEX26):c.201C>T (p.Asn67=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003787334] | likely benign | 22 | 18078577 | 18078577 | Human | 1 | name |
| 405006041 | CV3098503 | single nucleotide variant | NM_001127649.3(PEX26):c.195G>A (p.Leu65=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003804434] | likely benign | 22 | 18078571 | 18078571 | Human | 1 | name |
| 405017140 | CV3100721 | single nucleotide variant | NM_001127649.3(PEX26):c.162G>T (p.Ala54=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003805469] | likely benign | 22 | 18078538 | 18078538 | Human | 1 | name |
| 405073338 | CV3104033 | single nucleotide variant | NM_001127649.3(PEX26):c.225G>T (p.Ala75=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003799703] | likely benign | 22 | 18078601 | 18078601 | Human | 1 | name |
| 405050720 | CV3107251 | single nucleotide variant | NM_001127649.3(PEX26):c.234A>G (p.Ser78=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003808169] | likely benign | 22 | 18079877 | 18079877 | Human | 1 | name |
| 405053298 | CV3107683 | single nucleotide variant | NM_001127649.3(PEX26):c.126C>T (p.Ala42=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003808428] | likely benign | 22 | 18078502 | 18078502 | Human | 1 | name |
| 405087667 | CV3108036 | single nucleotide variant | NM_001127649.3(PEX26):c.183C>T (p.Ala61=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003800734] | likely benign | 22 | 18078559 | 18078559 | Human | 1 | name |
| 405036426 | CV3108655 | single nucleotide variant | NM_001127649.3(PEX26):c.180G>A (p.Arg60=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003807113] | likely benign | 22 | 18078556 | 18078556 | Human | 1 | name |
| 405162079 | CV3109916 | single nucleotide variant | NM_001127649.3(PEX26):c.163C>T (p.Leu55=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003802275] | likely benign | 22 | 18078539 | 18078539 | Human | 1 | name |
| 405153206 | CV3110206 | single nucleotide variant | NM_001127649.3(PEX26):c.279G>A (p.Leu93=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003817726] | likely benign | 22 | 18079922 | 18079922 | Human | 1 | name |
| 405153976 | CV3111193 | single nucleotide variant | NM_001127649.3(PEX26):c.255G>A (p.Leu85=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003801649] | likely benign | 22 | 18079898 | 18079898 | Human | 1 | name |
| 405074222 | CV3111587 | single nucleotide variant | NM_001127649.3(PEX26):c.204C>T (p.His68=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003809927] | likely benign | 22 | 18078580 | 18078580 | Human | 1 | name |
| 405128097 | CV3112131 | single nucleotide variant | NM_001127649.3(PEX26):c.141G>C (p.Val47=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003815605] | likely benign | 22 | 18078517 | 18078517 | Human | 1 | name |
| 405039571 | CV3112740 | single nucleotide variant | NM_001127649.3(PEX26):c.255G>C (p.Leu85=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003807407] | likely benign | 22 | 18079898 | 18079898 | Human | 1 | name |
| 405042669 | CV3112996 | single nucleotide variant | NM_001127649.3(PEX26):c.133C>T (p.Leu45=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003807663] | likely benign | 22 | 18078509 | 18078509 | Human | 1 | name |
| 405082024 | CV3113506 | single nucleotide variant | NM_001127649.3(PEX26):c.112C>T (p.Leu38=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003810523] | likely benign | 22 | 18078488 | 18078488 | Human | 1 | name |
| 11632309 | CV347065 | single nucleotide variant | NM_001127649.3(PEX26):c.207C>T (p.Ala69=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000404709]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001080029]|not provided [RCV000594003] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 22 | 18078583 | 18078583 | Human | 1 | name |
| 597713738 | CV3575714 | single nucleotide variant | NM_001127649.3(PEX26):c.14C>A (p.Ser5Tyr) | Inborn genetic diseases [RCV004959479] | uncertain significance | 22 | 18078390 | 18078390 | Human | 1 | name |
| 597895521 | CV3865382 | single nucleotide variant | NM_001127649.3(PEX26):c.178C>A (p.Arg60=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005219505] | likely benign | 22 | 18078554 | 18078554 | Human | 1 | name |
| 597877040 | CV3871531 | single nucleotide variant | NM_001127649.3(PEX26):c.177G>A (p.Glu59=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005216747] | likely benign | 22 | 18078553 | 18078553 | Human | 1 | name |
| 597853667 | CV3873805 | single nucleotide variant | NM_001127649.3(PEX26):c.168G>A (p.Glu56=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005228590] | likely benign | 22 | 18078544 | 18078544 | Human | 1 | name |
| 597874282 | CV3874880 | single nucleotide variant | NM_001127649.3(PEX26):c.222C>G (p.Pro74=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005216356] | likely benign | 22 | 18078598 | 18078598 | Human | 1 | name |
| 13834131 | CV585373 | single nucleotide variant | NM_001127649.3(PEX26):c.243G>T (p.Val81=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002535121]|not provided [RCV000729569] | likely benign|uncertain significance | 22 | 18079886 | 18079886 | Human | 1 | name |
| 8628640 | CV83784 | single nucleotide variant | NM_017929.5(PEX26):c.766C>G (p.Leu256Val) | Malignant melanoma [RCV000063865] | not provided | 22 | 18085210 | 18085210 | Human | | name |
| 38472514 | CV951322 | single nucleotide variant | NM_001127649.3(PEX26):c.23C>T (p.Ser8Phe) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001231543] | uncertain significance | 22 | 18078399 | 18078399 | Human | 1 | name |
| 126763621 | CV999319 | single nucleotide variant | NM_001127649.3(PEX26):c.267G>T (p.Gly89=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001300776] | likely benign|uncertain significance | 22 | 18079910 | 18079910 | Human | 1 | name |
| 8642791 | CV101775 | single nucleotide variant | NM_001127649.3(PEX26):c.669C>A (p.Gly223=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002055214]|not provided [RCV000081926] | likely benign|uncertain significance | 22 | 18085113 | 18085113 | Human | 1 | name |
| 126772213 | CV1035017 | single nucleotide variant | NM_001127649.3(PEX26):c.40G>A (p.Gly14Arg) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001345489] | uncertain significance | 22 | 18078416 | 18078416 | Human | 1 | name |
| 126773141 | CV1035018 | single nucleotide variant | NM_001127649.3(PEX26):c.71C>T (p.Pro24Leu) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001346017] | uncertain significance | 22 | 18078447 | 18078447 | Human | 1 | name |
| 127269487 | CV1107580 | single nucleotide variant | NM_001127649.3(PEX26):c.381A>G (p.Leu127=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001441085] | likely benign | 22 | 18083446 | 18083446 | Human | 1 | name |
| 127265544 | CV1107581 | single nucleotide variant | NM_001127649.3(PEX26):c.489C>T (p.His163=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001439990] | likely benign | 22 | 18083554 | 18083554 | Human | 1 | name |
| 127266887 | CV1107582 | single nucleotide variant | NM_001127649.3(PEX26):c.699G>C (p.Pro233=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001429498] | likely benign | 22 | 18085143 | 18085143 | Human | 1 | name |
| 127295525 | CV1159066 | single nucleotide variant | NM_001127649.3(PEX26):c.501G>A (p.Val167=) | PEX26-related disorder [RCV003931058]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001512232] | benign|likely benign | 22 | 18083566 | 18083566 | Human | 2 | name , trait , alternate_id |
| 151831529 | CV1343653 | single nucleotide variant | NM_001127649.3(PEX26):c.804A>G (p.Arg268=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001920537] | likely benign|uncertain significance | 22 | 18085248 | 18085248 | Human | 1 | name |
| 151800375 | CV1344057 | single nucleotide variant | NM_001127649.3(PEX26):c.77G>T (p.Arg26Leu) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002028032] | uncertain significance | 22 | 18078453 | 18078453 | Human | 1 | name |
| 151797185 | CV1346422 | single nucleotide variant | NM_001127649.3(PEX26):c.74T>G (p.Val25Gly) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001990610] | uncertain significance | 22 | 18078450 | 18078450 | Human | 1 | name |
| 151842520 | CV1359367 | single nucleotide variant | NM_001127649.3(PEX26):c.47G>A (p.Gly16Glu) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002015510] | uncertain significance | 22 | 18078423 | 18078423 | Human | 1 | name |
| 151859360 | CV1389601 | single nucleotide variant | NM_001127649.3(PEX26):c.86C>A (p.Pro29Gln) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001905084] | uncertain significance | 22 | 18078462 | 18078462 | Human | 1 | name |
| 151713448 | CV1394853 | single nucleotide variant | NM_001127649.3(PEX26):c.79G>A (p.Ala27Thr) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001889857] | uncertain significance | 22 | 18078455 | 18078455 | Human | 1 | name |
| 151794204 | CV1394912 | deletion | NM_001127649.3(PEX26):c.-3_1del (p.Met1fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001973330] | likely pathogenic | 22 | 18078374 | 18078377 | Human | | name |
| 151802181 | CV1404865 | single nucleotide variant | NM_001127649.3(PEX26):c.50G>A (p.Gly17Glu) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001932414] | uncertain significance | 22 | 18078426 | 18078426 | Human | 1 | name |
| 151765106 | CV1407751 | single nucleotide variant | NM_001127649.3(PEX26):c.35T>A (p.Leu12His) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002044700] | uncertain significance | 22 | 18078411 | 18078411 | Human | 1 | name |
| 151808653 | CV1423406 | single nucleotide variant | NM_001127649.3(PEX26):c.77G>A (p.Arg26His) | Inborn genetic diseases [RCV004955981]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002012217] | uncertain significance | 22 | 18078453 | 18078453 | Human | 2 | name |
| 151758419 | CV1443648 | single nucleotide variant | NM_001127649.3(PEX26):c.98C>G (p.Pro33Arg) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001872959] | uncertain significance | 22 | 18078474 | 18078474 | Human | 1 | name |
| 151750203 | CV1457175 | single nucleotide variant | NM_001127649.3(PEX26):c.759A>G (p.Lys253=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001912907] | likely benign|uncertain significance | 22 | 18085203 | 18085203 | Human | 1 | name |
| 151852311 | CV1459551 | single nucleotide variant | NM_001127649.3(PEX26):c.52C>A (p.Pro18Thr) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002033340] | uncertain significance | 22 | 18078428 | 18078428 | Human | 1 | name |
| 151791040 | CV1475537 | single nucleotide variant | NM_001127649.3(PEX26):c.52C>T (p.Pro18Ser) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001973056] | uncertain significance | 22 | 18078428 | 18078428 | Human | 1 | name |
| 151724105 | CV1500406 | single nucleotide variant | NM_001127649.3(PEX26):c.56T>C (p.Leu19Pro) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001910121] | uncertain significance | 22 | 18078432 | 18078432 | Human | 1 | name |
| 151732117 | CV1512510 | single nucleotide variant | NM_001127649.3(PEX26):c.53C>T (p.Pro18Leu) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002041312] | uncertain significance | 22 | 18078429 | 18078429 | Human | 1 | name |
| 152025797 | CV1528023 | single nucleotide variant | NM_001127649.3(PEX26):c.396A>G (p.Gln132=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002084584] | likely benign | 22 | 18083461 | 18083461 | Human | 1 | name |
| 152112168 | CV1539208 | single nucleotide variant | NM_001127649.3(PEX26):c.312C>T (p.Ser104=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002080400] | likely benign | 22 | 18079955 | 18079955 | Human | 1 | name |
| 152129543 | CV1549302 | single nucleotide variant | NM_001127649.3(PEX26):c.402T>C (p.Pro134=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002099297] | likely benign | 22 | 18083467 | 18083467 | Human | 1 | name |
| 152111324 | CV1551401 | single nucleotide variant | NM_001127649.3(PEX26):c.348A>G (p.Leu116=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002196813] | likely benign | 22 | 18079991 | 18079991 | Human | 1 | name |
| 152030192 | CV1570786 | single nucleotide variant | NM_001127649.3(PEX26):c.801G>A (p.Val267=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002105847] | likely benign | 22 | 18085245 | 18085245 | Human | 1 | name |
| 152070018 | CV1600997 | single nucleotide variant | NM_001127649.3(PEX26):c.540A>C (p.Leu180=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002091458] | likely benign | 22 | 18083605 | 18083605 | Human | 1 | name |
| 152100008 | CV1606654 | single nucleotide variant | NM_001127649.3(PEX26):c.462A>T (p.Pro154=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002195427] | likely benign | 22 | 18083527 | 18083527 | Human | 1 | name |
| 152158248 | CV1616103 | single nucleotide variant | NM_001127649.3(PEX26):c.511C>T (p.Leu171=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002159166] | likely benign | 22 | 18083576 | 18083576 | Human | 1 | name |
| 152149651 | CV1616873 | single nucleotide variant | NM_001127649.3(PEX26):c.351C>T (p.Pro117=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002201771] | likely benign | 22 | 18079994 | 18079994 | Human | 1 | name |
| 152028760 | CV1655388 | single nucleotide variant | NM_001127649.3(PEX26):c.783C>T (p.Ile261=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002105349] | likely benign | 22 | 18085227 | 18085227 | Human | 1 | name |
| 152063339 | CV1664028 | single nucleotide variant | NM_001127649.3(PEX26):c.891C>G (p.Arg297=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002073947] | likely benign | 22 | 18088048 | 18088048 | Human | 1 | name |
| 8556673 | CV17197 | duplication | NM_001127649.3(PEX26):c.254dup (p.Cys86fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000002243]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002512674]|Peroxisome biogenesis disorder 7B [RCV000002241] | pathogenic | 22 | 18079896 | 18079897 | Human | 2 | name |
| 155717963 | CV1775488 | single nucleotide variant | NM_001127649.3(PEX26):c.35T>C (p.Leu12Pro) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002301157] | uncertain significance | 22 | 18078411 | 18078411 | Human | 1 | name |
| 156409290 | CV1873928 | single nucleotide variant | NM_001127649.3(PEX26):c.825C>T (p.Ser275=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003071610] | likely benign | 22 | 18087982 | 18087982 | Human | 1 | name |
| 156219520 | CV1924802 | single nucleotide variant | NM_001127649.3(PEX26):c.59G>A (p.Arg20His) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002644346] | uncertain significance | 22 | 18078435 | 18078435 | Human | 1 | name |
| 156288658 | CV1926392 | single nucleotide variant | NM_001127649.3(PEX26):c.91C>T (p.Arg31Trp) | Inborn genetic diseases [RCV004961138]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002628720] | likely benign|uncertain significance | 22 | 18078467 | 18078467 | Human | 2 | name |
| 156435342 | CV1940700 | single nucleotide variant | NM_001127649.3(PEX26):c.43C>T (p.Leu15Phe) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003104804] | uncertain significance | 22 | 18078419 | 18078419 | Human | 1 | name |
| 156272005 | CV1970985 | single nucleotide variant | NM_001127649.3(PEX26):c.687C>T (p.Phe229=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002598122] | likely benign | 22 | 18085131 | 18085131 | Human | 1 | name |
| 156066844 | CV2022438 | single nucleotide variant | NM_001127649.3(PEX26):c.864C>T (p.Arg288=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002760195] | likely benign | 22 | 18088021 | 18088021 | Human | 1 | name |
| 155937375 | CV2045949 | single nucleotide variant | NM_001127649.3(PEX26):c.502C>T (p.Leu168=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002751553] | likely benign | 22 | 18083567 | 18083567 | Human | 1 | name |
| 155936920 | CV2058072 | single nucleotide variant | NM_001127649.3(PEX26):c.897C>T (p.Tyr299=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002815435] | likely benign | 22 | 18088054 | 18088054 | Human | 1 | name |
| 156046051 | CV2059842 | deletion | NM_001127649.3(PEX26):c.154del (p.Arg52fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002796609] | pathogenic | 22 | 18078529 | 18078529 | Human | 1 | name |
| 155951660 | CV2076425 | single nucleotide variant | NM_001127649.3(PEX26):c.603A>G (p.Thr201=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002862380] | likely benign | 22 | 18083668 | 18083668 | Human | 1 | name |
| 156027359 | CV2078215 | single nucleotide variant | NM_001127649.3(PEX26):c.477G>A (p.Leu159=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002866899] | likely benign | 22 | 18083542 | 18083542 | Human | 1 | name |
| 156140640 | CV2082301 | single nucleotide variant | NM_001127649.3(PEX26):c.750G>A (p.Leu250=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002871970] | likely benign | 22 | 18085194 | 18085194 | Human | 1 | name |
| 156207202 | CV2131335 | single nucleotide variant | NM_001127649.3(PEX26):c.732G>A (p.Val244=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002985444] | uncertain significance | 22 | 18085176 | 18085176 | Human | 1 | name |
| 156228623 | CV2140823 | single nucleotide variant | NM_001127649.3(PEX26):c.336C>T (p.Val112=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003007656] | likely benign | 22 | 18079979 | 18079979 | Human | 1 | name |
| 156035180 | CV2150124 | single nucleotide variant | NM_001127649.3(PEX26):c.873G>A (p.Arg291=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003018845] | likely benign | 22 | 18088030 | 18088030 | Human | 1 | name |
| 156185327 | CV2164048 | single nucleotide variant | NM_001127649.3(PEX26):c.819C>G (p.Ser273=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003023959] | likely benign | 22 | 18087976 | 18087976 | Human | 1 | name |
| 156072620 | CV2165217 | single nucleotide variant | NM_001127649.3(PEX26):c.354C>G (p.Pro118=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003037613] | likely benign | 22 | 18079997 | 18079997 | Human | 1 | name |
| 11644215 | CV265813 | single nucleotide variant | NM_001127649.3(PEX26):c.29C>T (p.Ala10Val) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001039451]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001142680]|not provided [RCV000407458] | uncertain significance | 22 | 18078405 | 18078405 | Human | 1 | name |
| 11640487 | CV265815 | single nucleotide variant | NM_001127649.3(PEX26):c.558C>T (p.Ala186=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002059084]|not provided [RCV000339692] | likely benign|uncertain significance | 22 | 18083623 | 18083623 | Human | 1 | name |
| 11640978 | CV274107 | single nucleotide variant | NM_001127649.3(PEX26):c.786C>G (p.Leu262=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001435982]|not provided [RCV000348701] | likely benign|uncertain significance | 22 | 18085230 | 18085230 | Human | 1 | name |
| 11637873 | CV275139 | single nucleotide variant | NM_001127649.3(PEX26):c.540A>G (p.Leu180=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001414499]|not provided [RCV000292209] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 22 | 18083605 | 18083605 | Human | 1 | name |
| 404996910 | CV3085532 | single nucleotide variant | NM_001127649.3(PEX26):c.660C>T (p.Asn220=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003783063] | likely benign | 22 | 18083725 | 18083725 | Human | 1 | name |
| 404997818 | CV3085753 | single nucleotide variant | NM_001127649.3(PEX26):c.579G>A (p.Leu193=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003783123] | likely benign | 22 | 18083644 | 18083644 | Human | 1 | name |
| 404999041 | CV3085796 | single nucleotide variant | NM_001127649.3(PEX26):c.729G>A (p.Ala243=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003783166] | likely benign | 22 | 18085173 | 18085173 | Human | 1 | name |
| 402514731 | CV3087585 | single nucleotide variant | NM_001127649.3(PEX26):c.429C>T (p.Ala143=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003789936] | likely benign | 22 | 18083494 | 18083494 | Human | 1 | name |
| 404992538 | CV3088978 | single nucleotide variant | NM_001127649.3(PEX26):c.444A>G (p.Pro148=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003782622] | likely benign | 22 | 18083509 | 18083509 | Human | 1 | name |
| 404992523 | CV3091415 | single nucleotide variant | NM_001127649.3(PEX26):c.840C>T (p.Leu280=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003792890] | likely benign | 22 | 18087997 | 18087997 | Human | 1 | name |
| 404993994 | CV3091581 | single nucleotide variant | NM_001127649.3(PEX26):c.699G>A (p.Pro233=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003793056] | likely benign | 22 | 18085143 | 18085143 | Human | 1 | name |
| 405020280 | CV3094537 | single nucleotide variant | NM_001127649.3(PEX26):c.525G>A (p.Ser175=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003785228] | likely benign | 22 | 18083590 | 18083590 | Human | 1 | name |
| 405010124 | CV3096601 | single nucleotide variant | NM_001127649.3(PEX26):c.543G>T (p.Val181=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003794590] | likely benign | 22 | 18083608 | 18083608 | Human | 1 | name |
| 405006298 | CV3098527 | single nucleotide variant | NM_001127649.3(PEX26):c.600C>T (p.His200=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003804458] | likely benign | 22 | 18083665 | 18083665 | Human | 1 | name |
| 404999936 | CV3099215 | single nucleotide variant | NM_001127649.3(PEX26):c.894C>T (p.Leu298=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003793636] | likely benign | 22 | 18088051 | 18088051 | Human | 1 | name |
| 404981941 | CV3100021 | single nucleotide variant | NM_001127649.3(PEX26):c.465A>G (p.Glu155=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003791688] | likely benign | 22 | 18083530 | 18083530 | Human | 1 | name |
| 405021567 | CV3101312 | single nucleotide variant | NM_001127649.3(PEX26):c.447C>G (p.Ala149=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003805891] | likely benign | 22 | 18083512 | 18083512 | Human | 1 | name |
| 405085063 | CV3104508 | single nucleotide variant | NM_001127649.3(PEX26):c.744T>C (p.Phe248=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003800566] | likely benign | 22 | 18085188 | 18085188 | Human | 1 | name |
| 405088960 | CV3104948 | single nucleotide variant | NM_001127649.3(PEX26):c.861C>T (p.Phe287=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003800831] | likely benign | 22 | 18088018 | 18088018 | Human | 1 | name |
| 405050529 | CV3107266 | single nucleotide variant | NM_001127649.3(PEX26):c.516C>T (p.Gly172=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003808184] | likely benign | 22 | 18083581 | 18083581 | Human | 1 | name |
| 405081910 | CV3107438 | single nucleotide variant | NM_001127649.3(PEX26):c.688C>T (p.Leu230=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003800308] | likely benign | 22 | 18085132 | 18085132 | Human | 1 | name |
| 405055509 | CV3107881 | single nucleotide variant | NM_001127649.3(PEX26):c.498G>A (p.Arg166=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003808627] | likely benign | 22 | 18083563 | 18083563 | Human | 1 | name |
| 405062969 | CV3108761 | single nucleotide variant | NM_001127649.3(PEX26):c.468T>C (p.Tyr156=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003809171] | likely benign | 22 | 18083533 | 18083533 | Human | 1 | name |
| 405008828 | CV3109011 | single nucleotide variant | NM_001127649.3(PEX26):c.438A>G (p.Gln146=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003804678] | likely benign | 22 | 18083503 | 18083503 | Human | 1 | name |
| 405010985 | CV3109231 | single nucleotide variant | NM_001127649.3(PEX26):c.306C>A (p.Val102=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003804899] | likely benign | 22 | 18079949 | 18079949 | Human | 1 | name |
| 405067401 | CV3110986 | single nucleotide variant | NM_001127649.3(PEX26):c.615G>A (p.Gln205=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003809490] | likely benign | 22 | 18083680 | 18083680 | Human | 1 | name |
| 405039801 | CV3112760 | single nucleotide variant | NM_001127649.3(PEX26):c.543G>A (p.Val181=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003807427] | likely benign | 22 | 18083608 | 18083608 | Human | 1 | name |
| 405042338 | CV3112951 | single nucleotide variant | NM_001127649.3(PEX26):c.609G>A (p.Arg203=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003807618] | likely benign | 22 | 18083674 | 18083674 | Human | 1 | name |
| 405104806 | CV3113063 | single nucleotide variant | NM_001127649.3(PEX26):c.414G>C (p.Leu138=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003812353] | likely benign | 22 | 18083479 | 18083479 | Human | 1 | name |
| 405037797 | CV3114021 | single nucleotide variant | NM_001127649.3(PEX26):c.741C>T (p.Phe247=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003807235] | likely benign | 22 | 18085185 | 18085185 | Human | 1 | name |
| 405745718 | CV3368478 | single nucleotide variant | NM_001127649.3(PEX26):c.92G>A (p.Arg31Gln) | Inborn genetic diseases [RCV004498376] | uncertain significance | 22 | 18078468 | 18078468 | Human | 1 | name |
| 405870949 | CV3399078 | duplication | NM_001127649.3(PEX26):c.211dup (p.Ala71fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV004574509] | likely pathogenic | 22 | 18078585 | 18078586 | Human | 1 | name |
| 11628221 | CV351141 | insertion | NM_001127649.3(PEX26):c.*1661_*1662insACTC | Peroxisome biogenesis disorder 1A (Zellweger) [RCV000297780] | benign | 22 | 18089733 | 18089734 | Human | 1 | name |
| 596926628 | CV3539859 | single nucleotide variant | NM_001127649.3(PEX26):c.31C>T (p.Pro11Ser) | not provided [RCV004790850] | uncertain significance | 22 | 18078407 | 18078407 | Human | | name |
| 597835478 | CV3864493 | single nucleotide variant | NM_001127649.3(PEX26):c.802A>C (p.Arg268=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005210129] | likely benign | 22 | 18085246 | 18085246 | Human | 1 | name |
| 597858105 | CV3864752 | single nucleotide variant | NM_001127649.3(PEX26):c.525G>T (p.Ser175=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005213808] | likely benign | 22 | 18083590 | 18083590 | Human | 1 | name |
| 597842246 | CV3865021 | single nucleotide variant | NM_001127649.3(PEX26):c.486T>C (p.Phe162=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005211469] | likely benign | 22 | 18083551 | 18083551 | Human | 1 | name |
| 597897177 | CV3866133 | single nucleotide variant | NM_001127649.3(PEX26):c.900G>A (p.Gln300=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005219750] | likely benign | 22 | 18088057 | 18088057 | Human | 1 | name |
| 597878445 | CV3871924 | single nucleotide variant | NM_001127649.3(PEX26):c.777C>T (p.Ala259=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005216975] | likely benign | 22 | 18085221 | 18085221 | Human | 1 | name |
| 597840426 | CV3873515 | single nucleotide variant | NM_001127649.3(PEX26):c.726T>C (p.Ser242=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005226342] | likely benign | 22 | 18085170 | 18085170 | Human | 1 | name |
| 597924011 | CV3877229 | single nucleotide variant | NM_001127649.3(PEX26):c.354C>A (p.Pro118=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005223925] | likely benign | 22 | 18079997 | 18079997 | Human | 1 | name |
| 597928811 | CV3878932 | single nucleotide variant | NM_001127649.3(PEX26):c.384C>T (p.Tyr128=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005224593] | likely benign | 22 | 18083449 | 18083449 | Human | 1 | name |
| 13520308 | CV491813 | single nucleotide variant | NM_001127649.3(PEX26):c.882A>G (p.Ala294=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001082778]|not provided [RCV000598530] | benign|conflicting interpretations of pathogenicity|uncertain significance | 22 | 18088039 | 18088039 | Human | 1 | name |
| 13521957 | CV494182 | single nucleotide variant | NM_001127649.3(PEX26):c.441C>T (p.Asp147=) | PEX26-related disorder [RCV003900359]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001078846]|not provided [RCV000591121] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 22 | 18083506 | 18083506 | Human | 2 | name , trait , alternate_id |
| 13833729 | CV584967 | single nucleotide variant | NM_001127649.3(PEX26):c.318C>G (p.Val106=) | PEX26-related disorder [RCV003947916]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001078816]|not provided [RCV000729073] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 22 | 18079961 | 18079961 | Human | 2 | name , trait , alternate_id |
| 13834043 | CV585283 | single nucleotide variant | NM_001127649.3(PEX26):c.38G>T (p.Arg13Met) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005209521]|not provided [RCV000729457] | uncertain significance | 22 | 18078414 | 18078414 | Human | 1 | name |
| 13834053 | CV585293 | single nucleotide variant | NM_001127649.3(PEX26):c.71C>G (p.Pro24Arg) | Inborn genetic diseases [RCV005392334]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001307100]|not provided [RCV000729469] | uncertain significance | 22 | 18078447 | 18078447 | Human | 2 | name |
| 13835555 | CV586815 | single nucleotide variant | NM_001127649.3(PEX26):c.423G>A (p.Val141=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001855659]|not provided [RCV000731392] | likely benign|uncertain significance | 22 | 18083488 | 18083488 | Human | 1 | name |
| 13836691 | CV587969 | single nucleotide variant | NM_001127649.3(PEX26):c.324G>A (p.Gln108=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003768228]|not provided [RCV000732884] | likely benign|uncertain significance | 22 | 18079967 | 18079967 | Human | 1 | name |
| 13836784 | CV588065 | single nucleotide variant | NM_001127649.3(PEX26):c.98C>T (p.Pro33Leu) | PEX26-related disorder [RCV004754547]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001137938]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001351715]|not provided [RCV000732996] | likely benign|uncertain significance | 22 | 18078474 | 18078474 | Human | 2 | name , trait , alternate_id |
| 13837254 | CV588541 | single nucleotide variant | NM_001127649.3(PEX26):c.32C>T (p.Pro11Leu) | PEX26-related disorder [RCV003918222]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001137937]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001202024]|not provided [RCV000733616] | uncertain significance | 22 | 18078408 | 18078408 | Human | 2 | name , trait , alternate_id |
| 13838347 | CV589649 | single nucleotide variant | NM_001127649.3(PEX26):c.795G>A (p.Leu265=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001855829]|not provided [RCV000735017] | likely benign|uncertain significance | 22 | 18085239 | 18085239 | Human | 1 | name |
| 15175232 | CV773421 | single nucleotide variant | NM_001127649.3(PEX26):c.606G>A (p.Ala202=) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003768863] | likely benign | 22 | 18083671 | 18083671 | Human | 1 | name |
| 38483095 | CV939187 | single nucleotide variant | NM_001127649.3(PEX26):c.77G>C (p.Arg26Pro) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001207514] | uncertain significance | 22 | 18078453 | 18078453 | Human | 1 | name |
| 126739206 | CV999318 | single nucleotide variant | NM_001127649.3(PEX26):c.58C>G (p.Arg20Gly) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001295576] | uncertain significance | 22 | 18078434 | 18078434 | Human | 1 | name |
| 126748561 | CV1014445 | single nucleotide variant | NM_001127649.3(PEX26):c.262G>A (p.Val88Met) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001326365] | uncertain significance | 22 | 18079905 | 18079905 | Human | 1 | name |
| 126770601 | CV1035019 | single nucleotide variant | NM_001127649.3(PEX26):c.148G>C (p.Asp50His) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001344566] | uncertain significance | 22 | 18078524 | 18078524 | Human | 1 | name |
| 126747388 | CV1035020 | single nucleotide variant | NM_001127649.3(PEX26):c.155G>A (p.Arg52Gln) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001351663] | uncertain significance | 22 | 18078531 | 18078531 | Human | 1 | name |
| 126921028 | CV1051989 | single nucleotide variant | NM_001127649.3(PEX26):c.227G>A (p.Gly76Asp) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001363236] | uncertain significance | 22 | 18078603 | 18078603 | Human | 1 | name |
| 150546395 | CV1313723 | deletion | NM_001127649.3(PEX26):c.613del (p.Gln205fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003772139]|not provided [RCV001784821] | pathogenic | 22 | 18083678 | 18083678 | Human | 1 | name |
| 151353349 | CV1326443 | single nucleotide variant | NM_001127649.3(PEX26):c.262G>T (p.Val88Leu) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002542476]|not provided [RCV001816315] | uncertain significance | 22 | 18079905 | 18079905 | Human | 1 | name |
| 151750337 | CV1377833 | single nucleotide variant | NM_001127649.3(PEX26):c.122C>T (p.Ala41Val) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002043223] | uncertain significance | 22 | 18078498 | 18078498 | Human | 1 | name |
| 151813296 | CV1382156 | single nucleotide variant | NM_001127649.3(PEX26):c.211G>T (p.Ala71Ser) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001992038] | uncertain significance | 22 | 18078587 | 18078587 | Human | 1 | name |
| 151791527 | CV1389263 | single nucleotide variant | NM_001127649.3(PEX26):c.109C>T (p.Leu37Phe) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002010748] | uncertain significance | 22 | 18078485 | 18078485 | Human | 1 | name |
| 151888869 | CV1402399 | single nucleotide variant | NM_001127649.3(PEX26):c.217G>C (p.Glu73Gln) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001942675] | uncertain significance | 22 | 18078593 | 18078593 | Human | 1 | name |
| 151722808 | CV1406706 | single nucleotide variant | NM_001127649.3(PEX26):c.205G>A (p.Ala69Thr) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002003905] | uncertain significance | 22 | 18078581 | 18078581 | Human | 1 | name |
| 151834440 | CV1408319 | single nucleotide variant | NM_001127649.3(PEX26):c.205G>C (p.Ala69Pro) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001935394] | uncertain significance | 22 | 18078581 | 18078581 | Human | 1 | name |
| 151815461 | CV1444671 | single nucleotide variant | NM_001127649.3(PEX26):c.281C>G (p.Ala94Gly) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001933626] | uncertain significance | 22 | 18079924 | 18079924 | Human | 1 | name |
| 151718782 | CV1458756 | single nucleotide variant | NM_001127649.3(PEX26):c.214G>A (p.Glu72Lys) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002003337] | uncertain significance | 22 | 18078590 | 18078590 | Human | 1 | name |
| 151844870 | CV1496483 | single nucleotide variant | NM_001127649.3(PEX26):c.142C>T (p.His48Tyr) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001921980] | uncertain significance | 22 | 18078518 | 18078518 | Human | 1 | name |
| 151761409 | CV1502894 | single nucleotide variant | NM_001127649.3(PEX26):c.250T>A (p.Ser84Thr) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001914028] | uncertain significance | 22 | 18079893 | 18079893 | Human | 1 | name |
| 8595639 | CV17191 | single nucleotide variant | NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) | PEX26-related disorder [RCV003390634]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000812717]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003472958]|Peroxisome biogenesis disorder 7B [RCV000002234]|Peroxisome biogenesis disorder [RCV000780589]|not pro vided [RCV000402285] | pathogenic | 22 | 18079935 | 18079935 | Human | 3 | name , trait , alternate_id |
| 8595640 | CV17192 | single nucleotide variant | NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000002236]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV005222658] | pathogenic|likely pathogenic | 22 | 18079908 | 18079908 | Human | 1 | name |
| 8595642 | CV17196 | single nucleotide variant | NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000351940]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001298874]|Peroxisome biogenesis disorder 7B [RCV000002240]|Peroxisome biogenesis disorder [RCV004700179] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 22 | 18078510 | 18078510 | Human | 3 | name |
| 155716281 | CV1774176 | single nucleotide variant | NM_001127649.3(PEX26):c.174C>G (p.Cys58Trp) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002296449] | uncertain significance | 22 | 18078550 | 18078550 | Human | 1 | name |
| 155684145 | CV1776862 | single nucleotide variant | NM_001127649.3(PEX26):c.227G>T (p.Gly76Val) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002298390] | uncertain significance | 22 | 18078603 | 18078603 | Human | 1 | name |
| 156380633 | CV1899774 | single nucleotide variant | NM_001127649.3(PEX26):c.103G>A (p.Val35Met) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003093244] | uncertain significance | 22 | 18078479 | 18078479 | Human | 1 | name |
| 155952504 | CV1922047 | single nucleotide variant | NM_001127649.3(PEX26):c.179G>A (p.Arg60Gln) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002616299] | uncertain significance | 22 | 18078555 | 18078555 | Human | 1 | name |
| 10048184 | CV192498 | single nucleotide variant | NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001085384]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001137939]|not provided [RCV000224312]|not specified [RCV000175899] | benign|likely benign|conflicting interpretations of pathogenicity | 22 | 18078506 | 18078506 | Human | 1 | name |
| 156235479 | CV2021621 | single nucleotide variant | NM_001127649.3(PEX26):c.107A>G (p.Asp36Gly) | Inborn genetic diseases [RCV002716411]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002745472] | uncertain significance | 22 | 18078483 | 18078483 | Human | 2 | name |
| 156016875 | CV2035330 | single nucleotide variant | NM_001127649.3(PEX26):c.245A>G (p.Lys82Arg) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002780451] | uncertain significance | 22 | 18079888 | 18079888 | Human | 1 | name |
| 156239907 | CV2047389 | single nucleotide variant | NM_001127649.3(PEX26):c.218A>T (p.Glu73Val) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002805638] | uncertain significance | 22 | 18078594 | 18078594 | Human | 1 | name |
| 155936466 | CV2058043 | single nucleotide variant | NM_001127649.3(PEX26):c.224C>G (p.Ala75Gly) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002815406] | uncertain significance | 22 | 18078600 | 18078600 | Human | 1 | name |
| 156180456 | CV2058532 | single nucleotide variant | NM_001127649.3(PEX26):c.224C>T (p.Ala75Val) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002828286] | uncertain significance | 22 | 18078600 | 18078600 | Human | 1 | name |
| 156132049 | CV2073043 | deletion | NM_001127649.3(PEX26):c.443del (p.Pro148fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002825709] | pathogenic | 22 | 18083506 | 18083506 | Human | 1 | name |
| 156002182 | CV2074687 | single nucleotide variant | NM_001127649.3(PEX26):c.175G>A (p.Glu59Lys) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002843457] | uncertain significance | 22 | 18078551 | 18078551 | Human | 1 | name |
| 156074708 | CV2102150 | single nucleotide variant | NM_001127649.3(PEX26):c.119A>G (p.Glu40Gly) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002912499]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003225773] | uncertain significance | 22 | 18078495 | 18078495 | Human | 1 | name |
| 156133308 | CV2113139 | single nucleotide variant | NM_001127649.3(PEX26):c.274G>A (p.Ala92Thr) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002928284] | uncertain significance | 22 | 18079917 | 18079917 | Human | 1 | name |
| 156229506 | CV2121970 | single nucleotide variant | NM_001127649.3(PEX26):c.121G>A (p.Ala41Thr) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002958453] | uncertain significance | 22 | 18078497 | 18078497 | Human | 1 | name |
| 156246867 | CV2168657 | single nucleotide variant | NM_001127649.3(PEX26):c.237G>C (p.Leu79Phe) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003026205] | uncertain significance | 22 | 18079880 | 18079880 | Human | 1 | name |
| 156194978 | CV2171469 | single nucleotide variant | NM_001127649.3(PEX26):c.145C>G (p.Leu49Val) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003024255] | uncertain significance | 22 | 18078521 | 18078521 | Human | 1 | name |
| 156364696 | CV2176825 | single nucleotide variant | NM_001127649.3(PEX26):c.236T>C (p.Leu79Ser) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003049260] | uncertain significance | 22 | 18079879 | 18079879 | Human | 1 | name |
| 156073918 | CV2177132 | single nucleotide variant | NM_001127649.3(PEX26):c.283G>A (p.Glu95Lys) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003053802] | uncertain significance | 22 | 18079926 | 18079926 | Human | 1 | name |
| 156326448 | CV2219613 | single nucleotide variant | NM_001127649.3(PEX26):c.110T>G (p.Leu37Arg) | Inborn genetic diseases [RCV002717468] | uncertain significance | 22 | 18078486 | 18078486 | Human | 1 | name |
| 11639180 | CV267825 | duplication | NM_001127649.3(PEX26):c.895dup (p.Tyr299fs) | PEX26-related disorder [RCV003417890]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001063738]|Peroxisome biogenesis disorder [RCV005355590]|not provided [RCV000316448] | uncertain significance | 22 | 18088051 | 18088052 | Human | 3 | name , trait , alternate_id |
| 11580611 | CV272698 | single nucleotide variant | NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser) | PEX26-related disorder [RCV003930152]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000338698]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000765604]|not provided [RCV000726167] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 22 | 18078576 | 18078576 | Human | 2 | name , trait , alternate_id |
| 405004184 | CV3082651 | single nucleotide variant | NM_001127649.3(PEX26):c.256T>C (p.Cys86Arg) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003783750]|not specified [RCV005063166] | likely pathogenic|uncertain significance | 22 | 18079899 | 18079899 | Human | 1 | name |
| 405013031 | CV3093525 | duplication | NM_001127649.3(PEX26):c.354dup (p.Lys119fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003784529] | pathogenic | 22 | 18079991 | 18079992 | Human | 1 | name |
| 405046363 | CV3097320 | deletion | NM_001127649.3(PEX26):c.396del (p.Glu133fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003807900] | pathogenic | 22 | 18083460 | 18083460 | Human | 1 | name |
| 405043827 | CV3101023 | single nucleotide variant | NM_001127649.3(PEX26):c.297G>A (p.Trp99Ter) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003807723] | pathogenic | 22 | 18079940 | 18079940 | Human | 1 | name |
| 405129336 | CV3110818 | deletion | NM_001127649.3(PEX26):c.344del (p.Lys115fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003815697] | pathogenic | 22 | 18079984 | 18079984 | Human | 1 | name |
| 405870947 | CV3399079 | deletion | NM_001127649.3(PEX26):c.380del (p.Leu127fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV004574510] | likely pathogenic | 22 | 18083442 | 18083442 | Human | 1 | name |
| 11631871 | CV347064 | single nucleotide variant | NM_001127649.3(PEX26):c.153C>A (p.Phe51Leu) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000391295]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001861193]|not provided [RCV000678492]|not specified [RCV004525920] | uncertain significance | 22 | 18078529 | 18078529 | Human | 1 | name |
| 11628313 | CV347066 | single nucleotide variant | NM_001127649.3(PEX26):c.208G>T (p.Val70Leu) | PEX26-related disorder [RCV004754404]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000299016]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001321237] | uncertain significance | 22 | 18078584 | 18078584 | Human | 2 | name , trait , alternate_id |
| 596928080 | CV3541357 | deletion | NM_001127649.3(PEX26):c.332del (p.Gln111fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV004797228] | likely pathogenic | 22 | 18079975 | 18079975 | Human | 1 | name |
| 596946018 | CV3550332 | single nucleotide variant | NM_001127649.3(PEX26):c.187C>A (p.Gln63Lys) | Peroxisome biogenesis disorder 7B [RCV004818872] | uncertain significance | 22 | 18078563 | 18078563 | Human | 1 | name |
| 12791651 | CV362314 | single nucleotide variant | NM_001127649.3(PEX26):c.296G>A (p.Trp99Ter) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000416954] | pathogenic | 22 | 18079939 | 18079939 | Human | 1 | name |
| 597667374 | CV3726946 | deletion | NM_001127649.3(PEX26):c.519del (p.Leu174fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005029227] | likely pathogenic | 22 | 18083584 | 18083584 | Human | 1 | name |
| 597667383 | CV3726947 | deletion | NM_001127649.3(PEX26):c.580del (p.Asp194fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005029228] | likely pathogenic | 22 | 18083644 | 18083644 | Human | 1 | name |
| 597892219 | CV3868012 | duplication | NM_001127649.3(PEX26):c.297dup (p.Gln100fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005219040] | pathogenic | 22 | 18079938 | 18079939 | Human | 1 | name |
| 597865802 | CV3868843 | duplication | NM_001127649.3(PEX26):c.575dup (p.Leu193fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005214963] | pathogenic | 22 | 18083639 | 18083640 | Human | 1 | name |
| 597848262 | CV3872808 | single nucleotide variant | NM_001127649.3(PEX26):c.214G>T (p.Glu72Ter) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005212445] | pathogenic | 22 | 18078590 | 18078590 | Human | 1 | name |
| 598122146 | CV3884224 | single nucleotide variant | NM_001127649.3(PEX26):c.131T>C (p.Leu44Pro) | Peroxisome biogenesis disorder [RCV005236914] | likely pathogenic | 22 | 18078507 | 18078507 | Human | 1 | name |
| 598261885 | CV3999680 | single nucleotide variant | NM_001127649.3(PEX26):c.275C>T (p.Ala92Val) | Inborn genetic diseases [RCV005386981] | uncertain significance | 22 | 18079918 | 18079918 | Human | 1 | name |
| 13518120 | CV488062 | single nucleotide variant | NM_001127649.3(PEX26):c.185G>A (p.Trp62Ter) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003767341]|Peroxisome biogenesis disorder [RCV000589459] | pathogenic|likely pathogenic | 22 | 18078561 | 18078561 | Human | 3 | name |
| 13522757 | CV492934 | single nucleotide variant | NM_001127649.3(PEX26):c.119A>C (p.Glu40Ala) | Inborn genetic diseases [RCV002532597]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001341513]|not provided [RCV000592145] | uncertain significance | 22 | 18078495 | 18078495 | Human | 2 | name |
| 13837674 | CV588964 | single nucleotide variant | NM_001127649.3(PEX26):c.120G>C (p.Glu40Asp) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001855802]|not provided [RCV000734162] | uncertain significance | 22 | 18078496 | 18078496 | Human | 1 | name |
| 26901123 | CV849024 | single nucleotide variant | NM_001127649.3(PEX26):c.239A>T (p.Glu80Val) | Inborn genetic diseases [RCV004958409]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001049773] | uncertain significance | 22 | 18079882 | 18079882 | Human | 2 | name |
| 38467943 | CV951323 | single nucleotide variant | NM_001127649.3(PEX26):c.169A>G (p.Thr57Ala) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001230516] | uncertain significance | 22 | 18078545 | 18078545 | Human | 1 | name |
| 38498005 | CV951324 | deletion | NM_001127649.3(PEX26):c.354del (p.Val120fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001227495]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003473790] | pathogenic|likely pathogenic | 22 | 18079992 | 18079992 | Human | 1 | name |
| 126771570 | CV1014446 | single nucleotide variant | NM_001127649.3(PEX26):c.310T>A (p.Ser104Thr) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001323238] | uncertain significance | 22 | 18079953 | 18079953 | Human | 1 | name |
| 126732449 | CV1014447 | single nucleotide variant | NM_001127649.3(PEX26):c.758A>G (p.Lys253Arg) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001313220] | uncertain significance | 22 | 18085202 | 18085202 | Human | 1 | name |
| 126766819 | CV1014448 | single nucleotide variant | NM_001127649.3(PEX26):c.784C>T (p.Leu262Phe) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001320600] | uncertain significance | 22 | 18085228 | 18085228 | Human | 1 | name |
| 8642790 | CV101774 | single nucleotide variant | NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) | Peroxisome biogenesis disorder 1A (Zellweger) [RCV000990373]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001083527]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001140190]|not provided [RCV000676115]|not specified [RCV000081925] | benign|likely benign | 22 | 18083522 | 18083522 | Human | 2 | name |
| 8642792 | CV101776 | single nucleotide variant | NM_001127649.3(PEX26):c.728C>T (p.Ala243Val) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000359739]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001079497]|not provided [RCV000081927]|not specified [RCV000259059] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 22 | 18085172 | 18085172 | Human | 1 | name |
| 126768622 | CV1035021 | single nucleotide variant | NM_001127649.3(PEX26):c.490G>A (p.Val164Met) | Inborn genetic diseases [RCV004960824]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001343461] | uncertain significance | 22 | 18083555 | 18083555 | Human | 2 | name |
| 126770974 | CV1035022 | single nucleotide variant | NM_001127649.3(PEX26):c.857T>C (p.Leu286Pro) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001344777] | uncertain significance | 22 | 18088014 | 18088014 | Human | 1 | name |
| 126919895 | CV1051990 | single nucleotide variant | NM_001127649.3(PEX26):c.401C>T (p.Pro134Leu) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001373492] | uncertain significance | 22 | 18083466 | 18083466 | Human | 1 | name |
| 151662163 | CV1330272 | single nucleotide variant | NM_001127649.3(PEX26):c.349C>A (p.Pro117Thr) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001823684] | likely pathogenic | 22 | 18079992 | 18079992 | Human | 1 | name |
| 151811223 | CV1340944 | single nucleotide variant | NM_001127649.3(PEX26):c.685T>C (p.Phe229Leu) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001974793] | uncertain significance | 22 | 18085129 | 18085129 | Human | 1 | name |
| 151866656 | CV1342227 | single nucleotide variant | NM_001127649.3(PEX26):c.601A>G (p.Thr201Ala) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001997815] | uncertain significance | 22 | 18083666 | 18083666 | Human | 1 | name |
| 151859630 | CV1344014 | single nucleotide variant | NM_001127649.3(PEX26):c.515G>C (p.Gly172Ala) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002034205] | uncertain significance | 22 | 18083580 | 18083580 | Human | 1 | name |
| 151747361 | CV1345227 | single nucleotide variant | NM_001127649.3(PEX26):c.761A>T (p.Lys254Met) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001893940] | uncertain significance | 22 | 18085205 | 18085205 | Human | 1 | name |
| 151735632 | CV1354739 | single nucleotide variant | NM_001127649.3(PEX26):c.425G>A (p.Gly142Asp) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001892723] | uncertain significance | 22 | 18083490 | 18083490 | Human | 1 | name |
| 151866182 | CV1354740 | single nucleotide variant | NM_001127649.3(PEX26):c.742T>G (p.Phe248Val) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001924630] | uncertain significance | 22 | 18085186 | 18085186 | Human | 1 | name |
| 151880498 | CV1360048 | single nucleotide variant | NM_001127649.3(PEX26):c.799G>A (p.Val267Met) | Inborn genetic diseases [RCV004044894]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002036803] | uncertain significance | 22 | 18085243 | 18085243 | Human | 2 | name |
| 151878306 | CV1370043 | single nucleotide variant | NM_001127649.3(PEX26):c.877G>A (p.Ala293Thr) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001961319] | uncertain significance | 22 | 18088034 | 18088034 | Human | 1 | name |
| 151845279 | CV1372521 | single nucleotide variant | NM_001127649.3(PEX26):c.547G>A (p.Gly183Ser) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001995249] | uncertain significance | 22 | 18083612 | 18083612 | Human | 1 | name |
| 151813531 | CV1373222 | single nucleotide variant | NM_001127649.3(PEX26):c.904C>T (p.Arg302Cys) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001900186] | uncertain significance | 22 | 18088061 | 18088061 | Human | 1 | name |
| 151863444 | CV1374412 | single nucleotide variant | NM_001127649.3(PEX26):c.738C>A (p.His246Gln) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001884234] | uncertain significance | 22 | 18085182 | 18085182 | Human | 1 | name |
| 151835541 | CV1374759 | single nucleotide variant | NM_001127649.3(PEX26):c.388A>C (p.Lys130Gln) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001920933] | uncertain significance | 22 | 18083453 | 18083453 | Human | 1 | name |
| 151717840 | CV1380629 | single nucleotide variant | NM_001127649.3(PEX26):c.788G>C (p.Cys263Ser) | Inborn genetic diseases [RCV005382323]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002003187] | uncertain significance | 22 | 18085232 | 18085232 | Human | 2 | name |
| 151790734 | CV1389163 | single nucleotide variant | NM_001127649.3(PEX26):c.764G>A (p.Ser255Asn) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002010678] | uncertain significance | 22 | 18085208 | 18085208 | Human | 1 | name |
| 151785684 | CV1397183 | single nucleotide variant | NM_001127649.3(PEX26):c.871C>T (p.Arg291Trp) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001930872] | uncertain significance | 22 | 18088028 | 18088028 | Human | 1 | name |
| 151859440 | CV1403717 | single nucleotide variant | NM_001127649.3(PEX26):c.748C>G (p.Leu250Val) | Inborn genetic diseases [RCV004651865]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001996941] | uncertain significance | 22 | 18085192 | 18085192 | Human | 2 | name |
| 151868687 | CV1415522 | single nucleotide variant | NM_001127649.3(PEX26):c.653A>G (p.Lys218Arg) | Inborn genetic diseases [RCV002553654]|PEX26-related disorder [RCV003948801]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001884859] | uncertain significance | 22 | 18083718 | 18083718 | Human | 3 | name , trait , alternate_id |
| 151781151 | CV1418941 | single nucleotide variant | NM_001127649.3(PEX26):c.680A>T (p.His227Leu) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001915893]|not provided [RCV004793591] | uncertain significance | 22 | 18085124 | 18085124 | Human | 1 | name |
| 151775509 | CV1420042 | single nucleotide variant | NM_001127649.3(PEX26):c.374T>C (p.Ile125Thr) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001988652] | uncertain significance | 22 | 18083439 | 18083439 | Human | 1 | name |
| 151880146 | CV1421224 | single nucleotide variant | NM_001127649.3(PEX26):c.433C>A (p.Leu145Ile) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001886355] | uncertain significance | 22 | 18083498 | 18083498 | Human | 1 | name |
| 151758535 | CV1421572 | single nucleotide variant | NM_001127649.3(PEX26):c.692C>T (p.Ser231Leu) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001895039] | uncertain significance | 22 | 18085136 | 18085136 | Human | 1 | name |
| 151824134 | CV1429299 | single nucleotide variant | NM_001127649.3(PEX26):c.352C>G (p.Pro118Ala) | PEX26-related disorder [RCV003395315]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001993074] | uncertain significance | 22 | 18079995 | 18079995 | Human | 2 | name , trait , alternate_id |
| 151817838 | CV1436036 | single nucleotide variant | NM_001127649.3(PEX26):c.751C>G (p.Pro251Ala) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001975433] | uncertain significance | 22 | 18085195 | 18085195 | Human | 1 | name |
| 151801127 | CV1442240 | single nucleotide variant | NM_001127649.3(PEX26):c.745T>C (p.Ser249Pro) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002011581] | uncertain significance | 22 | 18085189 | 18085189 | Human | 1 | name |
| 151810148 | CV1446391 | single nucleotide variant | NM_001127649.3(PEX26):c.667G>A (p.Gly223Ser) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002012355] | uncertain significance | 22 | 18083732 | 18083732 | Human | 1 | name |
| 151850815 | CV1450507 | single nucleotide variant | NM_001127649.3(PEX26):c.587T>A (p.Leu196His) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001922756] | uncertain significance | 22 | 18083652 | 18083652 | Human | 1 | name |
| 151754879 | CV1453896 | single nucleotide variant | NM_001127649.3(PEX26):c.697C>T (p.Pro233Ser) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001913351] | uncertain significance | 22 | 18085141 | 18085141 | Human | 1 | name |
| 151875312 | CV1466765 | single nucleotide variant | NM_001127649.3(PEX26):c.776C>T (p.Ala259Val) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001885783] | uncertain significance | 22 | 18085220 | 18085220 | Human | 1 | name |
| 151826677 | CV1471757 | single nucleotide variant | NM_001127649.3(PEX26):c.641A>G (p.Glu214Gly) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002030397] | uncertain significance | 22 | 18083706 | 18083706 | Human | 1 | name |
| 151779177 | CV1472340 | single nucleotide variant | NM_001127649.3(PEX26):c.673G>A (p.Val225Ile) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002026095] | uncertain significance | 22 | 18085117 | 18085117 | Human | 1 | name |
| 151722000 | CV1489650 | single nucleotide variant | NM_001127649.3(PEX26):c.627A>T (p.Glu209Asp) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001891242] | uncertain significance | 22 | 18083692 | 18083692 | Human | 1 | name |
| 151809052 | CV1500880 | single nucleotide variant | NM_001127649.3(PEX26):c.524C>T (p.Ser175Leu) | Inborn genetic diseases [RCV002561534]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001974599] | uncertain significance | 22 | 18083589 | 18083589 | Human | 2 | name |
| 151770211 | CV1502421 | single nucleotide variant | NM_001127649.3(PEX26):c.353C>A (p.Pro118His) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001896264] | uncertain significance | 22 | 18079996 | 18079996 | Human | 1 | name |
| 153303400 | CV1686208 | single nucleotide variant | NM_001127649.3(PEX26):c.890G>A (p.Arg297His) | Inborn genetic diseases [RCV003250479]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003095884]|not provided [RCV002261641] | uncertain significance | 22 | 18088047 | 18088047 | Human | 2 | name |
| 155669560 | CV1770923 | single nucleotide variant | NM_001127649.3(PEX26):c.393G>A (p.Met131Ile) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002297260] | uncertain significance | 22 | 18083458 | 18083458 | Human | 1 | name |
| 156348249 | CV1868570 | single nucleotide variant | NM_001127649.3(PEX26):c.350C>T (p.Pro117Leu) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003064643]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003475499] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 22 | 18079993 | 18079993 | Human | 1 | name |
| 156354744 | CV1894690 | single nucleotide variant | NM_001127649.3(PEX26):c.832C>T (p.His278Tyr) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003091257] | uncertain significance | 22 | 18087989 | 18087989 | Human | 1 | name |
| 10052204 | CV194477 | single nucleotide variant | NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys) | PEX26-related disorder [RCV003927659]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000302632]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000983944]|not specified [RCV000178314] | benign|likely benign|uncertain significance | 22 | 18083708 | 18083708 | Human | 2 | name , trait , alternate_id |
| 156437580 | CV1947586 | single nucleotide variant | NM_001127649.3(PEX26):c.904C>G (p.Arg302Gly) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003107119] | uncertain significance | 22 | 18088061 | 18088061 | Human | 1 | name |
| 156181610 | CV1953511 | single nucleotide variant | NM_001127649.3(PEX26):c.448A>G (p.Asn150Asp) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002574132] | uncertain significance | 22 | 18083513 | 18083513 | Human | 1 | name |
| 156209509 | CV1959553 | single nucleotide variant | NM_001127649.3(PEX26):c.473C>A (p.Ala158Asp) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002575096] | uncertain significance | 22 | 18083538 | 18083538 | Human | 1 | name |
| 156255440 | CV1981799 | single nucleotide variant | NM_001127649.3(PEX26):c.494A>G (p.Gln165Arg) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002646036] | uncertain significance | 22 | 18083559 | 18083559 | Human | 1 | name |
| 156264475 | CV1993829 | single nucleotide variant | NM_001127649.3(PEX26):c.872G>A (p.Arg291Gln) | Inborn genetic diseases [RCV004958670]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002646326] | uncertain significance | 22 | 18088029 | 18088029 | Human | 2 | name |
| 156365077 | CV2010667 | single nucleotide variant | NM_001127649.3(PEX26):c.905G>A (p.Arg302His) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002676504] | uncertain significance | 22 | 18088062 | 18088062 | Human | 1 | name |
| 156297674 | CV2017144 | single nucleotide variant | NM_001127649.3(PEX26):c.493C>A (p.Gln165Lys) | Inborn genetic diseases [RCV005382463]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002715916] | uncertain significance | 22 | 18083558 | 18083558 | Human | 2 | name |
| 156160814 | CV2033842 | single nucleotide variant | NM_001127649.3(PEX26):c.629A>G (p.His210Arg) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002741537] | uncertain significance | 22 | 18083694 | 18083694 | Human | 1 | name |
| 156086333 | CV2034086 | single nucleotide variant | NM_001127649.3(PEX26):c.577C>A (p.Leu193Met) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002760789] | uncertain significance | 22 | 18083642 | 18083642 | Human | 1 | name |
| 155911040 | CV2037580 | single nucleotide variant | NM_001127649.3(PEX26):c.887C>A (p.Ser296Tyr) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002771586] | uncertain significance | 22 | 18088044 | 18088044 | Human | 1 | name |
| 156204869 | CV2063078 | single nucleotide variant | NM_001127649.3(PEX26):c.331C>A (p.Gln111Lys) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002829075] | uncertain significance | 22 | 18079974 | 18079974 | Human | 1 | name |
| 156367011 | CV2116737 | single nucleotide variant | NM_001127649.3(PEX26):c.412C>A (p.Leu138Met) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002942028] | uncertain significance | 22 | 18083477 | 18083477 | Human | 1 | name |
| 156032371 | CV2117672 | single nucleotide variant | NM_001127649.3(PEX26):c.337C>T (p.Pro113Ser) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002923570] | uncertain significance | 22 | 18079980 | 18079980 | Human | 1 | name |
| 156035938 | CV2132877 | single nucleotide variant | NM_001127649.3(PEX26):c.784C>G (p.Leu262Val) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002999331] | uncertain significance | 22 | 18085228 | 18085228 | Human | 1 | name |
| 156094639 | CV2135723 | single nucleotide variant | NM_001127649.3(PEX26):c.913G>A (p.Asp305Asn) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003001968] | uncertain significance | 22 | 18088070 | 18088070 | Human | 1 | name |
| 156257816 | CV2142288 | single nucleotide variant | NM_001127649.3(PEX26):c.721G>A (p.Asp241Asn) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002988363] | uncertain significance | 22 | 18085165 | 18085165 | Human | 1 | name |
| 156222848 | CV2144287 | single nucleotide variant | NM_001127649.3(PEX26):c.356A>G (p.Lys119Arg) | Inborn genetic diseases [RCV004654082]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003007450] | uncertain significance | 22 | 18079999 | 18079999 | Human | 2 | name |
| 155920123 | CV2148877 | single nucleotide variant | NM_001127649.3(PEX26):c.900G>C (p.Gln300His) | Inborn genetic diseases [RCV005382525]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV002991861] | uncertain significance | 22 | 18088057 | 18088057 | Human | 2 | name |
| 156293686 | CV2152792 | single nucleotide variant | NM_001127649.3(PEX26):c.598C>T (p.His200Tyr) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003010072] | uncertain significance | 22 | 18083663 | 18083663 | Human | 1 | name |
| 155911319 | CV2153229 | single nucleotide variant | NM_001127649.3(PEX26):c.856C>G (p.Leu286Val) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003012276] | uncertain significance | 22 | 18088013 | 18088013 | Human | 1 | name |
| 155942160 | CV2158215 | single nucleotide variant | NM_001127649.3(PEX26):c.563G>C (p.Gly188Ala) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003014340] | uncertain significance | 22 | 18083628 | 18083628 | Human | 1 | name |
| 156215751 | CV2171242 | single nucleotide variant | NM_001127649.3(PEX26):c.620A>C (p.Lys207Thr) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003042513] | uncertain significance | 22 | 18083685 | 18083685 | Human | 1 | name |
| 155958988 | CV2172950 | single nucleotide variant | NM_001127649.3(PEX26):c.757A>T (p.Lys253Ter) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003032845] | pathogenic | 22 | 18085201 | 18085201 | Human | 1 | name |
| 156234593 | CV2180625 | single nucleotide variant | NM_001127649.3(PEX26):c.773C>A (p.Ala258Asp) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003043218] | uncertain significance | 22 | 18085217 | 18085217 | Human | 1 | name |
| 156300537 | CV2191520 | single nucleotide variant | NM_001127649.3(PEX26):c.333G>T (p.Gln111His) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003061941] | uncertain significance | 22 | 18079976 | 18079976 | Human | 1 | name |
| 329402059 | CV2453957 | single nucleotide variant | NM_001127649.3(PEX26):c.456C>G (p.Asn152Lys) | Inborn genetic diseases [RCV003199022] | uncertain significance | 22 | 18083521 | 18083521 | Human | 1 | name |
| 329387739 | CV2470942 | single nucleotide variant | NM_001127649.3(PEX26):c.305T>C (p.Val102Ala) | Inborn genetic diseases [RCV003215413] | uncertain significance | 22 | 18079948 | 18079948 | Human | 1 | name |
| 11559797 | CV260250 | single nucleotide variant | NM_001127649.3(PEX26):c.368T>C (p.Leu123Pro) | not provided [RCV000254997] | likely pathogenic | 22 | 18080011 | 18080011 | Human | | name |
| 11638732 | CV269777 | single nucleotide variant | NM_001127649.3(PEX26):c.325T>C (p.Tyr109His) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000960589]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001140188]|not provided [RCV001547434]|not specified [RCV000309036] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 22 | 18079968 | 18079968 | Human | 1 | name |
| 11642377 | CV271334 | single nucleotide variant | NM_001127649.3(PEX26):c.911G>A (p.Arg304His) | PEX26-related disorder [RCV003940029]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000650266]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001146685]|not specified [RCV000374196] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 22 | 18088068 | 18088068 | Human | 2 | name , trait , alternate_id |
| 11638100 | CV271603 | single nucleotide variant | NM_001127649.3(PEX26):c.409G>C (p.Val137Leu) | PEX26-related disorder [RCV003920124]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000883540]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001140189]|not provided [RCV001731563]|not specified [RCV000296353] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 22 | 18083474 | 18083474 | Human | 2 | name , trait , alternate_id |
| 11642963 | CV273427 | single nucleotide variant | NM_001127649.3(PEX26):c.497G>A (p.Arg166Gln) | PEX26-related disorder [RCV003977805]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001514036]|not provided [RCV000385335] | benign|likely benign|uncertain significance | 22 | 18083562 | 18083562 | Human | 2 | name , trait , alternate_id |
| 401798923 | CV2742692 | single nucleotide variant | NM_001127649.3(PEX26):c.896A>G (p.Tyr299Cys) | Inborn genetic diseases [RCV004961260]|not provided [RCV003325137] | uncertain significance | 22 | 18088053 | 18088053 | Human | 1 | name |
| 401927105 | CV2796885 | single nucleotide variant | NM_001127649.3(PEX26):c.442C>A (p.Pro148Thr) | PEX26-related disorder [RCV003406153] | uncertain significance | 22 | 18083507 | 18083507 | Human | | name , trait , alternate_id |
| 401950391 | CV2834828 | single nucleotide variant | NM_001127649.3(PEX26):c.468T>A (p.Tyr156Ter) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003476816] | likely pathogenic | 22 | 18083533 | 18083533 | Human | 1 | name |
| 401950392 | CV2834829 | duplication | NM_001127649.3(PEX26):c.27_58dup (p.Arg20fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003476817]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003779068] | pathogenic|likely pathogenic | 22 | 18078398 | 18078399 | Human | 1 | name |
| 401950395 | CV2834832 | single nucleotide variant | NM_001127649.3(PEX26):c.394C>T (p.Gln132Ter) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003476820] | likely pathogenic | 22 | 18083459 | 18083459 | Human | 1 | name |
| 401950396 | CV2834833 | single nucleotide variant | NM_001127649.3(PEX26):c.436C>T (p.Gln146Ter) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003476821]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003779069] | pathogenic | 22 | 18083501 | 18083501 | Human | 1 | name |
| 401950399 | CV2834836 | single nucleotide variant | NM_001127649.3(PEX26):c.330C>G (p.Tyr110Ter) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003476824] | likely pathogenic | 22 | 18079973 | 18079973 | Human | 1 | name |
| 405004160 | CV3082649 | deletion | NM_001127649.3(PEX26):c.37_38del (p.Arg13fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003783748] | pathogenic | 22 | 18078413 | 18078414 | Human | 1 | name |
| 405004173 | CV3082650 | deletion | NM_001127649.3(PEX26):c.73_79del (p.Val25fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003783749] | pathogenic | 22 | 18078447 | 18078453 | Human | 1 | name |
| 404985813 | CV3083554 | single nucleotide variant | NM_001127649.3(PEX26):c.472G>A (p.Ala158Thr) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003781904] | uncertain significance | 22 | 18083537 | 18083537 | Human | 1 | name |
| 402522872 | CV3086618 | single nucleotide variant | NM_001127649.3(PEX26):c.855G>C (p.Gln285His) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003781235] | uncertain significance | 22 | 18088012 | 18088012 | Human | 1 | name |
| 405042735 | CV3103722 | single nucleotide variant | NM_001127649.3(PEX26):c.298C>T (p.Gln100Ter) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003797440] | pathogenic | 22 | 18079941 | 18079941 | Human | 1 | name |
| 405083756 | CV3107576 | single nucleotide variant | NM_001127649.3(PEX26):c.468T>G (p.Tyr156Ter) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003800446] | pathogenic | 22 | 18083533 | 18083533 | Human | 1 | name |
| 596942329 | CV3408447 | single nucleotide variant | NM_001127649.3(PEX26):c.566A>G (p.Glu189Gly) | Retinal dystrophy [RCV004816118] | uncertain significance | 22 | 18083631 | 18083631 | Human | 2 | name |
| 11663156 | CV347070 | single nucleotide variant | NM_001127649.3(PEX26):c.625G>T (p.Glu209Ter) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV000393198] | uncertain significance | 22 | 18083690 | 18083690 | Human | | name |
| 407464122 | CV3470711 | single nucleotide variant | NM_001127649.3(PEX26):c.489C>G (p.His163Gln) | Inborn genetic diseases [RCV004659871] | uncertain significance | 22 | 18083554 | 18083554 | Human | 1 | name |
| 11628857 | CV351112 | single nucleotide variant | NM_001127649.3(PEX26):c.889C>T (p.Arg297Cys) | PEX26-related disorder [RCV003392214]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000310884]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001861194] | uncertain significance | 22 | 18088046 | 18088046 | Human | 2 | name , trait , alternate_id |
| 597654813 | CV3552155 | single nucleotide variant | NM_001127649.3(PEX26):c.449A>T (p.Asn150Ile) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV004821013] | likely pathogenic | 22 | 18083514 | 18083514 | Human | 1 | name |
| 597848269 | CV3872809 | single nucleotide variant | NM_001127649.3(PEX26):c.362T>G (p.Leu121Arg) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005212446] | uncertain significance | 22 | 18080005 | 18080005 | Human | 1 | name |
| 616934100 | CV4012083 | single nucleotide variant | NM_001127649.3(PEX26):c.349C>T (p.Pro117Ser) | not specified [RCV005409117] | uncertain significance | 22 | 18079992 | 18079992 | Human | | name |
| 616934397 | CV4012397 | single nucleotide variant | NM_001127649.3(PEX26):c.359T>G (p.Val120Gly) | not specified [RCV005409433] | uncertain significance | 22 | 18080002 | 18080002 | Human | | name |
| 13475414 | CV446353 | single nucleotide variant | NM_001127649.3(PEX26):c.353C>G (p.Pro118Arg) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001071380]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003476217]|not provided [RCV000519883]|not specified [RCV004767321] | likely pathogenic|uncertain significance | 22 | 18079996 | 18079996 | Human | 1 | name |
| 13516273 | CV489026 | single nucleotide variant | NM_001127649.3(PEX26):c.886T>C (p.Ser296Pro) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001860156]|not provided [RCV000595317] | uncertain significance | 22 | 18088043 | 18088043 | Human | 1 | name |
| 13524106 | CV489599 | single nucleotide variant | NM_001127649.3(PEX26):c.571C>T (p.Arg191Trp) | Inborn genetic diseases [RCV002532407]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000765605]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001140192]|not provided [RCV000593848] | uncertain significance | 22 | 18083636 | 18083636 | Human | 2 | name |
| 13519616 | CV489816 | single nucleotide variant | NM_001127649.3(PEX26):c.716T>C (p.Leu239Pro) | Inborn genetic diseases [RCV003160016]|PEX26-related disorder [RCV004754483]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001054328]|not provided [RCV000598024] | uncertain significance | 22 | 18085160 | 18085160 | Human | 3 | name , trait , alternate_id |
| 13518267 | CV491407 | single nucleotide variant | NM_001127649.3(PEX26):c.817T>G (p.Ser273Ala) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001370330]|not provided [RCV000597197] | uncertain significance | 22 | 18087974 | 18087974 | Human | 1 | name |
| 13523919 | CV491456 | single nucleotide variant | NM_001127649.3(PEX26):c.461C>T (p.Pro154Leu) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001867966]|not provided [RCV000593603] | uncertain significance | 22 | 18083526 | 18083526 | Human | 1 | name |
| 13523004 | CV492400 | single nucleotide variant | NM_001127649.3(PEX26):c.863G>A (p.Arg288His) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001854077]|not provided [RCV000592460] | uncertain significance | 22 | 18088020 | 18088020 | Human | 1 | name |
| 13522330 | CV492858 | single nucleotide variant | NM_001127649.3(PEX26):c.496C>T (p.Arg166Trp) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001204552]|not provided [RCV000591602] | uncertain significance | 22 | 18083561 | 18083561 | Human | 1 | name |
| 13515889 | CV494019 | single nucleotide variant | NM_001127649.3(PEX26):c.662T>A (p.Leu221Gln) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002532673]|not provided [RCV000594849] | uncertain significance | 22 | 18083727 | 18083727 | Human | 1 | name |
| 13522578 | CV494116 | single nucleotide variant | NM_001127649.3(PEX26):c.628C>T (p.His210Tyr) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001854117]|not provided [RCV000591912] | uncertain significance | 22 | 18083693 | 18083693 | Human | 1 | name |
| 13821260 | CV575212 | single nucleotide variant | NM_001127649.3(PEX26):c.710G>A (p.Arg237His) | Inborn genetic diseases [RCV002532316]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV000695632] | uncertain significance | 22 | 18085154 | 18085154 | Human | 2 | name |
| 13831612 | CV582110 | single nucleotide variant | NM_001127649.3(PEX26):c.529G>A (p.Ala177Thr) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001862114]|not provided [RCV000722292] | uncertain significance | 22 | 18083594 | 18083594 | Human | 1 | name |
| 13833350 | CV584582 | single nucleotide variant | NM_001127649.3(PEX26):c.725C>T (p.Ser242Phe) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001862153]|not provided [RCV000728579] | uncertain significance | 22 | 18085169 | 18085169 | Human | 1 | name |
| 13834457 | CV585704 | single nucleotide variant | NM_001127649.3(PEX26):c.662T>G (p.Leu221Arg) | Inborn genetic diseases [RCV002535137]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001855745]|not provided [RCV000729985] | uncertain significance | 22 | 18083727 | 18083727 | Human | 2 | name |
| 13836993 | CV588276 | single nucleotide variant | NM_001127649.3(PEX26):c.554C>T (p.Ala185Val) | Inborn genetic diseases [RCV002535319]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001140191]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001855777]|not provided [RCV000733269] | uncertain significance | 22 | 18083619 | 18083619 | Human | 2 | name |
| 13837688 | CV588978 | single nucleotide variant | NM_001127649.3(PEX26):c.854A>G (p.Gln285Arg) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001321464]|not provided [RCV000734176] | uncertain significance | 22 | 18088011 | 18088011 | Human | 1 | name |
| 26893035 | CV849025 | single nucleotide variant | NM_001127649.3(PEX26):c.334G>C (p.Val112Leu) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001047191] | uncertain significance | 22 | 18079977 | 18079977 | Human | 1 | name |
| 26896861 | CV849026 | single nucleotide variant | NM_001127649.3(PEX26):c.572G>A (p.Arg191Gln) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001070049] | uncertain significance | 22 | 18083637 | 18083637 | Human | 1 | name |
| 26917985 | CV849027 | single nucleotide variant | NM_001127649.3(PEX26):c.910C>T (p.Arg304Cys) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001057414] | uncertain significance | 22 | 18088067 | 18088067 | Human | 1 | name |
| 28873283 | CV890849 | single nucleotide variant | NM_001127649.3(PEX26):c.709C>T (p.Arg237Cys) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001146683]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001882450] | uncertain significance | 22 | 18085153 | 18085153 | Human | 1 | name |
| 34895560 | CV917314 | single nucleotide variant | NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001390132]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003473729]|Peroxisome biogenesis disorder [RCV001192671]|not provided [RCV002307697] | pathogenic | 22 | 18083639 | 18083639 | Human | 3 | name |
| 38481236 | CV939188 | single nucleotide variant | NM_001127649.3(PEX26):c.381A>T (p.Leu127Phe) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001206741] | uncertain significance | 22 | 18083446 | 18083446 | Human | 1 | name |
| 38461333 | CV939189 | single nucleotide variant | NM_001127649.3(PEX26):c.635G>T (p.Gly212Val) | PEX26-related disorder [RCV003405396]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001212004] | uncertain significance | 22 | 18083700 | 18083700 | Human | 2 | name , trait , alternate_id |
| 38489245 | CV939190 | single nucleotide variant | NM_001127649.3(PEX26):c.851C>T (p.Ala284Val) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001210121] | uncertain significance | 22 | 18088008 | 18088008 | Human | 1 | name |
| 38474097 | CV951325 | single nucleotide variant | NM_001127649.3(PEX26):c.493C>T (p.Gln165Ter) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001231938] | pathogenic | 22 | 18083558 | 18083558 | Human | 1 | name |
| 38474100 | CV951326 | single nucleotide variant | NM_001127649.3(PEX26):c.506T>C (p.Leu169Pro) | Heimler syndrome 1 [RCV001726460]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001231937]|not specified [RCV005408764] | uncertain significance | 22 | 18083571 | 18083571 | Human | 2 | name |
| 38459046 | CV951327 | single nucleotide variant | NM_001127649.3(PEX26):c.569A>G (p.Glu190Gly) | Inborn genetic diseases [RCV005384995]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001229064] | uncertain significance | 22 | 18083634 | 18083634 | Human | 2 | name |
| 38478690 | CV951328 | single nucleotide variant | NM_001127649.3(PEX26):c.862C>T (p.Arg288Cys) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001233996] | uncertain significance | 22 | 18088019 | 18088019 | Human | 1 | name |
| 38496338 | CV959017 | single nucleotide variant | NM_001127649.3(PEX26):c.352C>T (p.Pro118Ser) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001242494] | uncertain significance | 22 | 18079995 | 18079995 | Human | 1 | name |
| 38499889 | CV959018 | single nucleotide variant | NM_001127649.3(PEX26):c.427G>A (p.Ala143Thr) | Inborn genetic diseases [RCV003166540]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001245220] | uncertain significance | 22 | 18083492 | 18083492 | Human | 2 | name |
| 38490890 | CV959019 | single nucleotide variant | NM_001127649.3(PEX26):c.548G>A (p.Gly183Asp) | Optic atrophy [RCV004813973]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001239111]|not provided [RCV003130213] | uncertain significance | 22 | 18083613 | 18083613 | Human | 3 | name |
| 38494479 | CV959020 | single nucleotide variant | NM_001127649.3(PEX26):c.698C>T (p.Pro233Leu) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001241337]|Retinal dystrophy [RCV004813984] | uncertain significance | 22 | 18085142 | 18085142 | Human | 3 | name |
| 126726587 | CV999320 | single nucleotide variant | NM_001127649.3(PEX26):c.605C>T (p.Ala202Val) | Inborn genetic diseases [RCV002544633]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV001302937] | uncertain significance | 22 | 18083670 | 18083670 | Human | 2 | name |
| 401950394 | CV2834831 | deletion | NM_001127649.3(PEX26):c.192_216del (p.Ser64fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003476819] | pathogenic | 22 | 18078560 | 18078584 | Human | 1 | name |
| 402484916 | CV3093720 | microsatellite | NM_001127649.3(PEX26):c.190_191del (p.Leu65fs) | PEX26-related disorder [RCV004755018]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV003786920]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV004759296] | pathogenic | 22 | 18078564 | 18078565 | Human | | name , trait , alternate_id |
| 26923086 | CV849023 | microsatellite | NM_001127649.3(PEX26):c.129CCT[1] (p.Leu45del) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001063281] | uncertain significance | 22 | 18078505 | 18078507 | Human | | name |
| 151824633 | CV1350971 | deletion | NM_001127649.3(PEX26):c.789_798del (p.Cys263fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001919904] | likely pathogenic|uncertain significance | 22 | 18085231 | 18085240 | Human | 1 | name |
| 156017141 | CV2035355 | deletion | NM_001127649.3(PEX26):c.329_330del (p.Tyr110fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV002780465]|Peroxisome biogenesis disorder 7A (Zellweger) [RCV004571246] | pathogenic|likely pathogenic | 22 | 18079972 | 18079973 | Human | 1 | name |
| 156328060 | CV2184561 | microsatellite | NM_001127649.3(PEX26):c.725_726del (p.Ser242fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003047047] | pathogenic | 22 | 18085167 | 18085168 | Human | | name |
| 401950390 | CV2834827 | deletion | NM_001127649.3(PEX26):c.361_362del (p.Leu121fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003476815] | likely pathogenic | 22 | 18080004 | 18080005 | Human | 1 | name |
| 597921843 | CV3867215 | duplication | NM_001127649.3(PEX26):c.539_540dup (p.Val181Ter) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV005223641] | pathogenic | 22 | 18083603 | 18083604 | Human | 1 | name |
| 38458002 | CV959016 | indel | NM_001127649.3(PEX26):c.178_179delinsA (p.Ala61fs) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV001246197] | pathogenic | 22 | 18078554 | 18078555 | Human | | name |
| 329847541 | CV2543824 | indel | NM_001127649.3(PEX26):c.379_380delinsGA (p.Leu127Glu) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003228760] | likely pathogenic | 22 | 18083444 | 18083445 | Human | | name |
| 405058818 | CV3102535 | indel | NM_001127649.3(PEX26):c.-3_17delinsTGCAGCCCCCCTCAGGGGGCTCGGGG (p.Met1_Ser6delinsSerProProGlnGlyAlaArgGly) | Peroxisome biogenesis disorder 7A (Zellweger) [RCV003798677] | likely pathogenic | 22 | 18078374 | 18078393 | Human | | name |