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Items: 57

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr17:33902916-33902920
GRCh38:
Chr17:35575898-35575901
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(Jun 4, 2018)
criteria provided, single submitterVCV000558619
2.
GRCh37:
Chr17:33904056
GRCh38:
Chr17:35577037
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(May 16, 2018)
criteria provided, single submitterVCV000558363
3.
GRCh37:
Chr17:33902892-33902894
GRCh38:
Chr17:35575874-35575875
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3AUncertain significance
(Apr 19, 2018)
criteria provided, single submitterVCV000557980
4.
GRCh37:
Chr17:33904951-33904953
GRCh38:
Chr17:35577933-35577934
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(Mar 6, 2018)
criteria provided, single submitterVCV000556965
5.
GRCh37:
Chr17:33904092-33904093
GRCh38:
Chr17:35577074
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(Feb 26, 2018)
criteria provided, single submitterVCV000556886
6.
GRCh37:
Chr17:33905038-33905040
GRCh38:
Chr17:35578020-35578021
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(Feb 15, 2018)
criteria provided, single submitterVCV000556743
7.
GRCh37:
Chr17:33904999-33905023
GRCh38:
Chr17:35577981-35578004
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3AUncertain significance
(Feb 6, 2018)
criteria provided, single submitterVCV000556466
8.
GRCh37:
Chr17:33902809-33902811
GRCh38:
Chr17:35575791-35575792
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3AUncertain significance
(Jan 26, 2018)
criteria provided, single submitterVCV000556362
9.
GRCh37:
Chr17:33902831-33902834
GRCh38:
Chr17:35575813-35575815
PEX12Q349delInfantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(Jan 9, 2018)
criteria provided, single submitterVCV000556045
10.
GRCh37:
Chr17:33904112
GRCh38:
Chr17:35577093
PEX12Q209*Infantile Refsum's disease, Peroxisome biogenesis disorder 3A, Peroxisome biogenesis disorders, Zellweger syndrome spectrum
Pathogenic/Likely pathogenic
(Dec 12, 2017)
criteria provided, multiple submitters, no conflictsVCV000555548
11.
GRCh37:
Chr17:33902857-33902858
GRCh38:
Chr17:35575839
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3AUncertain significance
(Dec 5, 2017)
criteria provided, single submitterVCV000555446
12.
GRCh37:
Chr17:33904913
GRCh38:
Chr17:35577894
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(Nov 29, 2017)
criteria provided, single submitterVCV000555306
13.
GRCh37:
Chr17:33904515
GRCh38:
Chr17:35577496
PEX12Y74*Infantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(Oct 17, 2017)
criteria provided, single submitterVCV000554388
14.
GRCh37:
Chr17:33904336-33904345
GRCh38:
Chr17:35577318-35577326
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3AUncertain significance
(Sep 21, 2017)
criteria provided, single submitterVCV000553959
15.
GRCh37:
Chr17:33903136
GRCh38:
Chr17:35576118
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3APathogenic
(Sep 8, 2017)
criteria provided, single submitterVCV000553741
16.
GRCh37:
Chr17:33903109-33903110
GRCh38:
Chr17:35576091
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(Sep 1, 2017)
criteria provided, single submitterVCV000553650
17.
GRCh37:
Chr17:33904542-33904547
GRCh38:
Chr17:35577524-35577528
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(Aug 30, 2017)
criteria provided, single submitterVCV000553579
18.
GRCh37:
Chr17:33903099-33903100
GRCh38:
Chr17:35576081
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(Aug 10, 2017)
criteria provided, single submitterVCV000553270
19.
GRCh37:
Chr17:33904964
GRCh38:
Chr17:35577946-35577953
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(Jul 25, 2017)
criteria provided, single submitterVCV000553017
20.
GRCh37:
Chr17:33904305-33904308
GRCh38:
Chr17:35577287-35577289
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(Jul 7, 2017)
criteria provided, single submitterVCV000552799
21.
GRCh37:
Chr17:33904073
GRCh38:
Chr17:35577054
PEX12Q222*Infantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(Jun 30, 2017)
criteria provided, single submitterVCV000552699
22.
GRCh37:
Chr17:33903010-33903016
GRCh38:
Chr17:35575992-35575997
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3AUncertain significance
(Jun 8, 2017)
criteria provided, single submitterVCV000552385
23.
GRCh37:
Chr17:33902903
GRCh38:
Chr17:35575884
PEX12Y326*Infantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(Jun 5, 2017)
criteria provided, single submitterVCV000552325
24.
GRCh37:
Chr17:33903190-33903194
GRCh38:
Chr17:35576172-35576175
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(Jun 2, 2017)
criteria provided, single submitterVCV000552278
25.
GRCh37:
Chr17:33904133
GRCh38:
Chr17:35577114
PEX12R202*Infantile Refsum's disease, Peroxisome biogenesis disorder 3APathogenic
(Apr 28, 2017)
criteria provided, single submitterVCV000551647
26.
GRCh37:
Chr17:33904277
GRCh38:
Chr17:35577258
PEX12R154*Infantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(Apr 24, 2017)
criteria provided, single submitterVCV000551612
27.
GRCh37:
Chr17:33903092
GRCh38:
Chr17:35576073
PEX12W263*Infantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(Apr 18, 2017)
criteria provided, single submitterVCV000551557
28.
GRCh37:
Chr17:33904526
GRCh38:
Chr17:35577507
PEX12Q71*Infantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(Mar 16, 2017)
criteria provided, single submitterVCV000551127
29.
GRCh37:
Chr17:33904992
GRCh38:
Chr17:35577973
PEX12Q17*Infantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(Feb 28, 2017)
criteria provided, single submitterVCV000550907
30.
GRCh37:
Chr17:33904552
GRCh38:
Chr17:35577534-35577536
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3A, not provided
Uncertain significance
(Feb 24, 2017)
criteria provided, multiple submitters, no conflictsVCV000550849
31.
GRCh37:
Chr17:33903093-33903096
GRCh38:
Chr17:35576075-35576077
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3A, Peroxisome biogenesis disorder 3A
Uncertain significance
(Feb 1, 2017)
criteria provided, multiple submitters, no conflictsVCV000550582
32.
GRCh37:
Chr17:33904512-33904514
GRCh38:
Chr17:35577494-35577495
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3ALikely pathogenic
(Jan 6, 2017)
criteria provided, single submitterVCV000550148
33.
GRCh37:
Chr17:33904531-33904533
GRCh38:
Chr17:35577512-35577514
PEX12L70delPeroxisome biogenesis disorder 3A, Peroxisome biogenesis disorders, Zellweger syndrome spectrum, Infantile Refsum's disease,
Peroxisome biogenesis disorder 3A
Uncertain significance
(Mar 5, 2018)
criteria provided, multiple submitters, no conflictsVCV000548532
34.
GRCh37:
Chr17:33903144
GRCh38:
Chr17:35576125
PEX12S246YInfantile Refsum's disease, Peroxisome biogenesis disorder 3A, not specified,
not provided
Uncertain significance
(Jun 23, 2017)
criteria provided, multiple submitters, no conflictsVCV000502684
35.
GRCh37:
Chr17:33904466-33904469
GRCh38:
Chr17:35577447-35577450
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3A, Peroxisome biogenesis disorder 3A,
not provided, Peroxisome biogenesis disorders, Zellweger syndrome spectrum
Pathogenic/Likely pathogenic
(Jan 26, 2017)
criteria provided, multiple submitters, no conflictsVCV000501646
36.
GRCh37:
Chr17:33903202
GRCh38:
Chr17:35576183
PEX12Peroxisome biogenesis disorder 3A, Infantile Refsum's disease, not provided,
Peroxisome biogenesis disorders, Zellweger syndrome spectrum
Conflicting interpretations of pathogenicity
(Aug 22, 2017)
criteria provided, conflicting interpretationsVCV000497605
37.
GRCh37:
Chr17:33902872
GRCh38:
Chr17:35575853
PEX12Q337*Infantile Refsum's disease, Peroxisome biogenesis disorder 3A, not provided
Conflicting interpretations of pathogenicity
(May 30, 2018)
criteria provided, conflicting interpretationsVCV000451464
38.
GRCh37:
Chr17:33904202-33904204
GRCh38:
Chr17:35577183-35577185
PEX12Q178delInfantile Refsum's disease, Peroxisome biogenesis disorder 3A, Peroxisome biogenesis disorder 3A
Pathogenic/Likely pathogenic
(Jun 7, 2017)
criteria provided, multiple submitters, no conflictsVCV000437449
39.
GRCh37:
Chr17:33904367-33904369
GRCh38:
Chr17:35577348-35577350
PEX12L123delInfantile Refsum's disease, Peroxisome biogenesis disorder 3A, not provided
Uncertain significance
(Sep 8, 2016)
criteria provided, multiple submitters, no conflictsVCV000377276
40.
GRCh37:
Chr17:33903115-33903116
GRCh38:
Chr17:35576096-35576097
PEX12Peroxisome biogenesis disorder 3APathogenic
(Feb 6, 2017)
no assertion criteria providedVCV000375474
41.
GRCh37:
Chr17:33903194-33903197
GRCh38:
Chr17:35576175-35576178
PEX12Peroxisome biogenesis disorder 3A, Infantile Refsum's diseaseLikely pathogenic
(Aug 16, 2016)
criteria provided, single submitterVCV000371738
42.
GRCh37:
Chr17:33903148-33903151
GRCh38:
Chr17:35576129-35576132
PEX12not provided, Peroxisome biogenesis disorder 3A, Peroxisome biogenesis disorders, Zellweger syndrome spectrum,
Infantile Refsum's disease
Pathogenic
(Aug 16, 2016)
criteria provided, multiple submitters, no conflictsVCV000371737
43.
GRCh37:
Chr17:33904914
GRCh38:
Chr17:35577895
PEX12not provided, Peroxisome biogenesis disorder 3A, Peroxisome biogenesis disorders, Zellweger syndrome spectrum,
Infantile Refsum's disease
Pathogenic
(Aug 16, 2016)
criteria provided, multiple submitters, no conflictsVCV000371718
44.
GRCh37:
Chr17:33904384
GRCh38:
Chr17:35577365
PEX12M118TZellweger syndrome, Infantile Refsum's disease, Peroxisome biogenesis disorder 3A
Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000322653
45.
GRCh37:
Chr17:33904388
GRCh38:
Chr17:35577369
PEX12I117VInfantile Refsum's disease, Peroxisome biogenesis disorder 3A, not provided,
Zellweger syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000283389
46.
GRCh37:
Chr17:33904403
GRCh38:
Chr17:35577384
PEX12Q112*Infantile Refsum's disease, Peroxisome biogenesis disorder 3A, not provided,
Peroxisome biogenesis disorder 3A
Pathogenic/Likely pathogenic
(Jun 7, 2018)
criteria provided, multiple submitters, no conflictsVCV000191074
47.
GRCh37:
Chr17:33905066
GRCh38:
Chr17:35578047
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3A, not provided
Uncertain significance
(Apr 15, 2014)
criteria provided, multiple submitters, no conflictsVCV000167450
48.
GRCh37:
Chr17:33902987
GRCh38:
Chr17:35575968
PEX12Infantile Refsum's disease, Peroxisome biogenesis disorder 3A, not provided
Pathogenic/Likely pathogenic
(Oct 25, 2017)
criteria provided, multiple submitters, no conflictsVCV000092777
49.
GRCh37:
Chr17:33902992-33902993
GRCh38:
Chr17:35575973-35575974
PEX12Peroxisome biogenesis disorder 3A, not provided, Peroxisome biogenesis disorders, Zellweger syndrome spectrum,
Infantile Refsum's disease
Pathogenic
(Oct 21, 2016)
criteria provided, multiple submitters, no conflictsVCV000092776
50.
GRCh37:
Chr17:33903202-33903203
GRCh38:
Chr17:35576183-35576184
PEX12not specified, Peroxisome biogenesis disorder 3A, not provided
Benign
(Dec 28, 2017)
criteria provided, multiple submitters, no conflictsVCV000092775
51.
GRCh37:
Chr17:33902932
GRCh38:
Chr17:35575913
PEX12L317FInfantile Refsum's disease, Peroxisome biogenesis disorder 3A, Peroxisomal biogenesis disorder 3b
Uncertain significance
(Jun 8, 2004)
criteria provided, single submitterVCV000007779
52.
GRCh37:
Chr17:33902922
GRCh38:
Chr17:35575903
PEX12S320FPeroxisomal biogenesis disorder 3b, Peroxisome biogenesis disorder 3A, not provided
Conflicting interpretations of pathogenicity
(Aug 1, 2004)
criteria provided, conflicting interpretationsVCV000007775
53.
GRCh37:
Chr17:33904199
GRCh38:
Chr17:35577180
PEX12R180*Peroxisomal biogenesis disorder 3b, Infantile Refsum's disease, Peroxisome biogenesis disorder 3A,
Peroxisome biogenesis disorder 3A
Pathogenic
(Jun 8, 2004)
criteria provided, multiple submitters, no conflictsVCV000007774
54.
GRCh37:
Chr17:33903190
GRCh38:
Chr17:35576171
PEX12K231*Peroxisome biogenesis disorder 3APathogenic
(Nov 1, 1997)
no assertion criteria providedVCV000007773
55.
PEX12Peroxisome biogenesis disorder 3APathogenic
(Apr 1, 1997)
no assertion criteria providedVCV000007772
56.
PEX12Peroxisome biogenesis disorder 3APathogenic
(Apr 1, 1997)
no assertion criteria providedVCV000007771
57.
PEX12Peroxisome biogenesis disorder 3APathogenic
(Apr 1, 1997)
no assertion criteria providedVCV000007770
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