ClinVar Miner

Variants with conflicting interpretations studied for Peroxisome biogenesis disorder 1A (Zellweger)

Coded as:
Minimum review status of the submission for Peroxisome biogenesis disorder 1A (Zellweger): Y axis collection method of the submission for Peroxisome biogenesis disorder 1A (Zellweger):
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
510 119 0 41 41 0 3 84

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Peroxisome biogenesis disorder 1A (Zellweger) pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 0 0 0
likely pathogenic 10 0 1 0 0
uncertain significance 2 0 0 28 17
likely benign 0 0 2 0 26
benign 0 0 1 6 0

Condition to condition summary #

Total conditions: 14
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not specified 0 10 0 22 35 0 0 57
not provided 0 72 0 24 11 0 1 35
Peroxisome biogenesis disorder 1A (Zellweger) 699 8 0 4 2 0 0 6
Peroxisome biogenesis disorders, Zellweger syndrome spectrum 0 4 0 5 0 0 0 5
Deafness enamel hypoplasia nail defects 0 4 0 0 0 0 2 2
Peroxisome biogenesis disorder, complementation group K 0 0 0 2 0 0 0 2
Neonatal adrenoleucodystrophy 0 0 0 1 0 0 0 1
Peroxisome biogenesis disorder 11A 0 0 0 0 1 0 0 1
Peroxisome biogenesis disorder 11B 0 0 0 1 0 0 0 1
Peroxisome biogenesis disorder 12A 0 0 0 1 0 0 0 1
Peroxisome biogenesis disorder 1A (Zellweger); Deafness enamel hypoplasia nail defects; Peroxisome biogenesis disorder 1B 0 2 0 1 0 0 0 1
Peroxisome biogenesis disorder 1B 0 46 0 1 0 0 0 1
Peroxisome biogenesis disorder 5a (zellweger) 0 0 0 1 0 0 0 1
Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 0 3 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 84
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HGVS dbSNP
NM_000287.3(PEX6):c.1234-7_1234-6dupTT rs200121485
NM_000287.3(PEX6):c.207C>T (p.Pro69=) rs11539736
NM_000287.3(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000287.3(PEX6):c.2364G>A (p.Val788=) rs2274515
NM_000287.3(PEX6):c.2426C>T (p.Ala809Val) rs35830695
NM_000287.3(PEX6):c.2936C>T (p.Ala979Val) rs115180949
NM_000287.3(PEX6):c.853C>G (p.Pro285Ala) rs61753220
NM_000318.2(PEX2):c.24G>A (p.Ala8=) rs9298285
NM_000318.2(PEX2):c.733G>A (p.Ala245Thr) rs112108739
NM_000318.2(PEX2):c.748T>C (p.Trp250Arg) rs142645936
NM_000318.2(PEX2):c.91C>G (p.Gln31Glu) rs149287302
NM_000466.2(PEX1):c.-137T>C rs12386601
NM_000466.2(PEX1):c.-53C>G rs12386703
NM_000466.2(PEX1):c.1131delA (p.Asp378Metfs) rs886043479
NM_000466.2(PEX1):c.129+10C>T rs886062508
NM_000466.2(PEX1):c.130-9T>C rs377337949
NM_000466.2(PEX1):c.1671-7T>C rs74519968
NM_000466.2(PEX1):c.1991T>C (p.Leu664Pro) rs121434455
NM_000466.2(PEX1):c.1A>T (p.Met1Leu) rs1057517501
NM_000466.2(PEX1):c.2088A>G (p.Ile696Met) rs35996821
NM_000466.2(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.2(PEX1):c.2230C>T (p.Gln744Ter) rs398123409
NM_000466.2(PEX1):c.2331C>A (p.Gly777=) rs10278857
NM_000466.2(PEX1):c.2383C>T (p.Arg795Ter) rs61750418
NM_000466.2(PEX1):c.2442C>T (p.Phe814=) rs145430946
NM_000466.2(PEX1):c.2584-10delT rs5885806
NM_000466.2(PEX1):c.2584-11_2584-10delTT rs5885806
NM_000466.2(PEX1):c.2792C>A (p.Ala931Asp) rs144825021
NM_000466.2(PEX1):c.2916delA (p.Gly973Alafs) rs61750426
NM_000466.2(PEX1):c.2922delA (p.Leu974Phefs) rs762324548
NM_000466.2(PEX1):c.2926+1G>A rs267608179
NM_000466.2(PEX1):c.2966T>C (p.Ile989Thr) rs61750427
NM_000466.2(PEX1):c.3031G>A (p.Val1011Met) rs141650598
NM_000466.2(PEX1):c.3208-1G>A rs1057517518
NM_000466.2(PEX1):c.330C>G (p.Pro110=) rs71560821
NM_000466.2(PEX1):c.3439-14_3439-13delAA rs150005994
NM_000466.2(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000466.2(PEX1):c.358-11G>C rs113104510
NM_000466.2(PEX1):c.3720C>T (p.His1240=) rs34825053
NM_000466.2(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000466.2(PEX1):c.547C>T (p.Arg183Ter) rs149806989
NM_000466.2:c.1743_1796del rs1554372756
NM_001131025.1(PEX5):c.1632G>A (p.Ala544=) rs115338343
NM_001131025.1(PEX5):c.1718+13A>G rs116873137
NM_001131025.1(PEX5):c.604G>C (p.Val202Leu) rs149102738
NM_001131025.1(PEX5):c.815T>C (p.Met272Thr) rs76708142
NM_002618.3(PEX13):c.-6G>C rs147461642
NM_002618.3(PEX13):c.1078C>G (p.Leu360Val) rs74350038
NM_002618.3(PEX13):c.355G>A (p.Val119Ile) rs147707348
NM_002857.3(PEX19):c.181-15A>G rs114403769
NM_002857.3(PEX19):c.433-11G>T rs41265791
NM_002857.3(PEX19):c.459G>A (p.Leu153=) rs78340311
NM_002857.3(PEX19):c.771+3A>G rs141133579
NM_002857.3(PEX19):c.879T>C (p.Gly293=) rs74125561
NM_003630.2(PEX3):c.-4A>G rs116692495
NM_003630.2(PEX3):c.245A>G (p.Gln82Arg) rs35220041
NM_004565.2(PEX14):c.1014C>T (p.Asp338=) rs2128414
NM_004565.2(PEX14):c.1032G>T (p.Gly344=) rs11539794
NM_004565.2(PEX14):c.213C>G (p.Gly71=) rs41274482
NM_004565.2(PEX14):c.349G>T (p.Ala117Ser) rs12061667
NM_004565.2(PEX14):c.36+8G>A rs200154696
NM_004565.2(PEX14):c.475G>A (p.Val159Met) rs74052157
NM_004565.2(PEX14):c.513C>A (p.Ala171=) rs35046754
NM_004565.2(PEX14):c.768G>A (p.Val256=) rs36083022
NM_004565.2(PEX14):c.795A>G (p.Ser265=) rs41274484
NM_004565.2(PEX14):c.825G>A (p.Ser275=) rs143412169
NM_004565.2(PEX14):c.959G>A (p.Arg320Lys) rs12070353
NM_004813.2(PEX16):c.204G>T (p.Glu68Asp) rs149348130
NM_004813.2(PEX16):c.303C>T (p.Ala101=) rs80275010
NM_004813.2(PEX16):c.760G>C (p.Val254Leu) rs35214605
NM_017929.5(PEX26):c.*10C>T rs117472525
NM_017929.5(PEX26):c.198C>T (p.Ala66=) rs374290931
NM_017929.5(PEX26):c.643G>A (p.Glu215Lys) rs138232280
NM_017929.5(PEX26):c.728C>T (p.Ala243Val) rs149153003
NM_153818.1(PEX10):c.*11G>A rs3795270
NM_153818.1(PEX10):c.194-5C>T rs375032738
NM_153818.1(PEX10):c.279C>T (p.Gly93=) rs1143016
NM_153818.1(PEX10):c.291A>G (p.Thr97=) rs2494598
NM_153818.1(PEX10):c.318G>A (p.Leu106=) rs146452560
NM_153818.1(PEX10):c.6C>G (p.Ala2=) rs112471479
NM_153818.1(PEX10):c.745G>C (p.Val249Leu) rs139345520
NM_153818.1(PEX10):c.771C>T (p.Tyr257=) rs761005209
NM_153818.1(PEX10):c.903G>A (p.Arg301=) rs35082957
NM_153818.1(PEX10):c.973-4G>A rs11586985

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