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Items: 1 to 100 of 291

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr6:137143605
GRCh38:
Chr6:136822467
PEX7not providedLikely benign
(Sep 11, 2018)
criteria provided, single submitterVCV001200249
2.
GRCh37:
Chr6:137143611
GRCh38:
Chr6:136822473
PEX7not providedBenign
(Jun 25, 2018)
criteria provided, single submitterVCV001272567
3.
GRCh37:
Chr6:137143709
GRCh38:
Chr6:136822571
PEX7not provided, Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
Benign
(Jul 10, 2021)
criteria provided, multiple submitters, no conflictsVCV000674920
4.
GRCh37:
Chr6:137143713
GRCh38:
Chr6:136822575
PEX7Rhizomelic chondrodysplasia punctata, Phytanic acid storage diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000355519
5.
GRCh37:
Chr6:137143716
GRCh38:
Chr6:136822578
PEX7Rhizomelic chondrodysplasia punctata, Phytanic acid storage diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000355520
6.
GRCh37:
Chr6:137143727
GRCh38:
Chr6:136822589
PEX7Rhizomelic chondrodysplasia punctata, Phytanic acid storage diseaseUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000355521
7.
GRCh37:
Chr6:137143735
GRCh38:
Chr6:136822597
PEX7Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9BUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000904144
8.
GRCh37:
Chr6:137143739
GRCh38:
Chr6:136822601
PEX7Rhizomelic chondrodysplasia punctata type 1, not provided, Peroxisome biogenesis disorder 9B
Benign/Likely benign
(Aug 14, 2018)
criteria provided, multiple submitters, no conflictsVCV000904145
9.
GRCh37:
Chr6:137143748
GRCh38:
Chr6:136822610
PEX7Rhizomelic chondrodysplasia punctata type 1, not provided, Rhizomelic chondrodysplasia punctata,
Peroxisome biogenesis disorder 9B
Benign
(Jun 14, 2018)
criteria provided, multiple submitters, no conflictsVCV000355522
10.
GRCh37:
Chr6:137143757-137143758
GRCh38:
Chr6:136822619-136822620
PEX7Rhizomelic chondrodysplasia punctata type 1Uncertain significance
(Apr 30, 2018)
criteria provided, single submitterVCV000558083
11.
GRCh37:
Chr6:137143759
GRCh38:
Chr6:136822621
PEX7Phytanic acid storage diseasePathogenic
(Sep 13, 2012)
no assertion criteria providedVCV000038871
12.
GRCh37:
Chr6:137143760
GRCh38:
Chr6:136822622
PEX7not specifiedLikely benign
(Sep 8, 2017)
criteria provided, single submitterVCV000511998
13.
GRCh37:
Chr6:137143769
GRCh38:
Chr6:136822631
PEX7Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9BUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000355523
14.
GRCh37:
Chr6:137143773
GRCh38:
Chr6:136822635
PEX7Rhizomelic chondrodysplasia punctata type 1, not specified, Peroxisome biogenesis disorder 9B,
Rhizomelic chondrodysplasia punctata
Benign/Likely benign
(Apr 27, 2017)
criteria provided, multiple submitters, no conflictsVCV000255745
15.
GRCh37:
Chr6:137143776
GRCh38:
Chr6:136822638
PEX7Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9BUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000355524
16.
GRCh37:
Chr6:137143786
GRCh38:
Chr6:136822648
PEX7Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9BUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000904922
17.
GRCh37:
Chr6:137143801
GRCh38:
Chr6:136822663
PEX7Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9BUncertain significance
(Jan 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000355525
18.
GRCh37:
Chr6:137143807-137143808
GRCh38:
Chr6:136822669-136822670
PEX7G7fsPeroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1Pathogenic/Likely pathogenic
(Sep 13, 2021)
criteria provided, multiple submitters, no conflictsVCV000370629
19.
GRCh37:
Chr6:137143812
GRCh38:
Chr6:136822674
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Jun 25, 2019)
criteria provided, single submitterVCV001122645
20.
GRCh37:
Chr6:137143820
GRCh38:
Chr6:136822682
PEX7G6APeroxisome biogenesis disorder 9BUncertain significance
(Oct 19, 2020)
criteria provided, single submitterVCV001063708
21.
GRCh37:
Chr6:137143830
GRCh38:
Chr6:136822692
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Dec 4, 2019)
criteria provided, single submitterVCV001127689
22.
GRCh37:
Chr6:137143831-137143856
GRCh38:
Chr6:136822693-136822718
PEX7M11fsRhizomelic chondrodysplasia punctata type 1Likely pathogenic
(Jun 14, 2016)
criteria provided, single submitterVCV000371045
23.
GRCh37:
Chr6:137143837
GRCh38:
Chr6:136822699
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Sep 16, 2020)
criteria provided, single submitterVCV001079841
24.
GRCh37:
Chr6:137143838-137143839
GRCh38:
Chr6:136822700-136822701
PEX7Rhizomelic chondrodysplasia punctata type 1Uncertain significance
(Jan 23, 2018)
criteria provided, single submitterVCV000556260
25.
GRCh37:
Chr6:137143840-137143841
GRCh38:
Chr6:136822702-136822703
PEX7H18fsRhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9BPathogenic
(Dec 3, 2018)
criteria provided, single submitterVCV000007784
26.
GRCh37:
Chr6:137143841
GRCh38:
Chr6:136822703
PEX7R13QPeroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1Uncertain significance
(Jul 14, 2021)
criteria provided, single submitterVCV001209595
27.
GRCh37:
Chr6:137143843
GRCh38:
Chr6:136822705
PEX7T14PRhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9BPathogenic
(Sep 13, 2012)
no assertion criteria providedVCV000007790
28.
GRCh37:
Chr6:137143845
GRCh38:
Chr6:136822707
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Aug 20, 2020)
criteria provided, single submitterVCV001147081
29.
GRCh37:
Chr6:137143847
GRCh38:
Chr6:136822709
PEX7P15Lnot specifiedUncertain significance
(Nov 10, 2016)
criteria provided, single submitterVCV000447933
30.
GRCh37:
Chr6:137143849
GRCh38:
Chr6:136822711
PEX7G16RPeroxisome biogenesis disorder 9BUncertain significance
(Aug 10, 2020)
criteria provided, single submitterVCV001006354
31.
GRCh37:
Chr6:137143851-137143852
GRCh38:
Chr6:136822713-136822714
PEX7F24fsPeroxisome biogenesis disorder 9BPathogenic
(Jan 28, 2019)
criteria provided, single submitterVCV000846733
32.
GRCh37:
Chr6:137143860
GRCh38:
Chr6:136822722
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Oct 16, 2019)
criteria provided, single submitterVCV001111011
33.
GRCh37:
Chr6:137143863
GRCh38:
Chr6:136822725
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Dec 6, 2019)
criteria provided, single submitterVCV001088151
34.
GRCh37:
Chr6:137143863
GRCh38:
Chr6:136822725
PEX7Y20*Rhizomelic chondrodysplasia punctata type 1Likely pathogenic
(May 19, 2016)
criteria provided, single submitterVCV000370938
35.
GRCh37:
Chr6:137143866
GRCh38:
Chr6:136822728
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Nov 2, 2020)
criteria provided, single submitterVCV001117788
36.
GRCh37:
Chr6:137143866
GRCh38:
Chr6:136822728
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Jul 9, 2020)
criteria provided, single submitterVCV001090464
37.
GRCh37:
Chr6:137143870
GRCh38:
Chr6:136822732
PEX7E23Knot providedUncertain significance
(Jan 23, 2018)
criteria provided, single submitterVCV000595729
38.
GRCh37:
Chr6:137143875
GRCh38:
Chr6:136822737
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Sep 18, 2020)
criteria provided, single submitterVCV001151004
39.
GRCh37:
Chr6:137143877
GRCh38:
Chr6:136822739
PEX7S25FPeroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1Conflicting interpretations of pathogenicity
(Jan 3, 2018)
criteria provided, conflicting interpretationsVCV000188918
40.
GRCh37:
Chr6:137143878
GRCh38:
Chr6:136822740
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Mar 10, 2020)
criteria provided, single submitterVCV001109566
41.
GRCh37:
Chr6:137143880
GRCh38:
Chr6:136822742
PEX7P26Lnot providedUncertain significance
(Mar 23, 2020)
criteria provided, single submitterVCV001163857
42.
GRCh37:
Chr6:137143881
GRCh38:
Chr6:136822743
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Oct 9, 2020)
criteria provided, single submitterVCV001149668
43.
GRCh37:
Chr6:137143884
GRCh38:
Chr6:136822746
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Oct 9, 2020)
criteria provided, single submitterVCV001133044
44.
GRCh37:
Chr6:137143884
GRCh38:
Chr6:136822746
PEX7Y27*Rhizomelic chondrodysplasia punctata type 1Likely pathogenic
(Apr 5, 2016)
criteria provided, single submitterVCV000370746
45.
GRCh37:
Chr6:137143885
GRCh38:
Chr6:136822747
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Mar 1, 2019)
criteria provided, single submitterVCV001150477
46.
GRCh37:
Chr6:137143889
GRCh38:
Chr6:136822751
PEX7P29LRhizomelic chondrodysplasia punctata, not provided, Peroxisome biogenesis disorder 9B,
Phytanic acid storage disease, Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
Uncertain significance
(Oct 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000498141
47.
GRCh37:
Chr6:137143893
GRCh38:
Chr6:136822755
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Sep 26, 2020)
criteria provided, single submitterVCV001133827
48.
GRCh37:
Chr6:137143897
GRCh38:
Chr6:136822759
PEX7not provided, Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1
Conflicting interpretations of pathogenicity
(Dec 8, 2020)
criteria provided, conflicting interpretationsVCV000355526
49.
GRCh37:
Chr6:137143899
GRCh38:
Chr6:136822761
PEX7not specified, Rhizomelic chondrodysplasia punctata type 1Likely benign
(Apr 20, 2017)
criteria provided, single submitterVCV000509113
50.
GRCh37:
Chr6:137143914
GRCh38:
Chr6:136822776
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Sep 3, 2020)
criteria provided, single submitterVCV001096887
51.
GRCh37:
Chr6:137143915
GRCh38:
Chr6:136822777
PEX7Q38*Peroxisome biogenesis disorder 9BPathogenic
(Aug 20, 2020)
criteria provided, single submitterVCV001068851
52.
GRCh37:
Chr6:137143918
GRCh38:
Chr6:136822780
PEX7H39NPeroxisome biogenesis disorder 9BUncertain significance
(Sep 23, 2020)
criteria provided, single submitterVCV001013882
53.
GRCh37:
Chr6:137143919
GRCh38:
Chr6:136822781
PEX7H39RPeroxisome biogenesis disorder 9BUncertain significance
(Feb 23, 2020)
criteria provided, single submitterVCV000942407
54.
GRCh37:
Chr6:137143919
GRCh38:
Chr6:136822781
PEX7H39PRhizomelic chondrodysplasia punctata type 1Likely pathogeniccriteria provided, single submitterVCV000813362
55.
GRCh37:
Chr6:137143920
GRCh38:
Chr6:136822782
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Oct 7, 2020)
criteria provided, single submitterVCV001157805
56.
GRCh37:
Chr6:137143923
GRCh38:
Chr6:136822785
PEX7Y40*Peroxisome biogenesis disorder 9B, PEX7-Related Disorders, Rhizomelic chondrodysplasia punctata type 1,
Peroxisome biogenesis disorder 9B, Phytanic acid storage disease, Rhizomelic chondrodysplasia punctata type 1
Pathogenic
(Sep 9, 2020)
criteria provided, multiple submitters, no conflictsVCV000007788
57.
GRCh37:
Chr6:137143924
GRCh38:
Chr6:136822786
PEX7G41RPeroxisome biogenesis disorder 9BUncertain significance
(Aug 31, 2020)
criteria provided, single submitterVCV001008460
58.
GRCh37:
Chr6:137143925
GRCh38:
Chr6:136822787
PEX7G41VRhizomelic chondrodysplasia punctata type 1Uncertain significance
(Jan 22, 2018)
criteria provided, single submitterVCV000556255
59.
GRCh37:
Chr6:137143929
GRCh38:
Chr6:136822791
PEX7not provided, Peroxisome biogenesis disorder 9BConflicting interpretations of pathogenicity
(Oct 31, 2020)
criteria provided, conflicting interpretationsVCV000500471
60.
GRCh37:
Chr6:137143931
GRCh38:
Chr6:136822793
PEX7A43VPeroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1Uncertain significance
(Dec 2, 2019)
criteria provided, single submitterVCV000850298
61.
GRCh37:
Chr6:137143932
GRCh38:
Chr6:136822794
PEX7Peroxisome biogenesis disorder 9BUncertain significance
(Aug 20, 2020)
criteria provided, single submitterVCV001010243
62.
GRCh37:
Chr6:137143934
GRCh38:
Chr6:136822796
PEX7Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9BPathogenic
(Sep 28, 2019)
criteria provided, multiple submitters, no conflictsVCV000639671
63.
GRCh37:
Chr6:137143934
GRCh38:
Chr6:136822796
PEX7Rhizomelic chondrodysplasia punctata type 1Likely pathogenic
(Feb 22, 2016)
criteria provided, single submitterVCV000370520
64.
GRCh37:
Chr6:137143941
GRCh38:
Chr6:136822803
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Nov 3, 2020)
criteria provided, single submitterVCV001094841
65.
GRCh37:
Chr6:137143942
GRCh38:
Chr6:136822804
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Apr 5, 2020)
criteria provided, single submitterVCV001162153
66.
GRCh37:
Chr6:137143942
GRCh38:
Chr6:136822804
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Jul 1, 2019)
criteria provided, single submitterVCV001096393
67.
GRCh37:
Chr6:137143943
GRCh38:
Chr6:136822805
PEX7not provided, Peroxisome biogenesis disorder 9BConflicting interpretations of pathogenicity
(Dec 5, 2020)
criteria provided, conflicting interpretationsVCV000193077
68.
GRCh37:
Chr6:137143944
GRCh38:
Chr6:136822806
PEX7Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9BUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000355527
69.
GRCh37:
Chr6:137143946
GRCh38:
Chr6:136822808
PEX7Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9BUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000355528
70.
GRCh37:
Chr6:137143961-137143980
GRCh38:
Chr6:136822823-136822842
PEX7Rhizomelic chondrodysplasia punctata type 1Likely benign
(Apr 7, 2018)
criteria provided, single submitterVCV000557813
71.
GRCh37:
Chr6:137143976-137143980
GRCh38:
Chr6:136822838-136822842
PEX7not specifiedBenign
(Jul 18, 2018)
criteria provided, single submitterVCV000811537
72.
GRCh37:
Chr6:137143980-137143981
GRCh38:
Chr6:136822842-136822843
PEX7not provided, Rhizomelic chondrodysplasia punctataBenign
(Sep 24, 2018)
criteria provided, single submitterVCV000828090
73.
GRCh37:
Chr6:137144027
GRCh38:
Chr6:136822889
PEX7not providedBenign
(Jun 30, 2018)
criteria provided, single submitterVCV001290151
74.
GRCh37:
Chr6:137144218
GRCh38:
Chr6:136823080
PEX7not providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001225384
75.
GRCh37:
Chr6:137146183
GRCh38:
Chr6:136825045
PEX7not providedLikely benign
(Aug 25, 2018)
criteria provided, single submitterVCV001194925
76.
GRCh37:
Chr6:137146342
GRCh38:
Chr6:136825204
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Aug 27, 2020)
criteria provided, single submitterVCV001109128
77.
GRCh37:
Chr6:137146344
GRCh38:
Chr6:136825206
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Oct 3, 2020)
criteria provided, single submitterVCV001081760
78.
GRCh37:
Chr6:137146346
GRCh38:
Chr6:136825208
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Oct 18, 2019)
criteria provided, single submitterVCV001103783
79.
GRCh37:
Chr6:137146350
GRCh38:
Chr6:136825212
PEX7Rhizomelic chondrodysplasia punctata type 1Likely pathogenic
(Aug 15, 2017)
criteria provided, single submitterVCV000553298
80.
GRCh37:
Chr6:137146351
GRCh38:
Chr6:136825213
PEX7Peroxisome biogenesis disorder 9BLikely pathogenic
(Feb 11, 2020)
criteria provided, single submitterVCV001067814
81.
GRCh37:
Chr6:137146371
GRCh38:
Chr6:136825233
PEX7I50Mnot providedUncertain significance
(Aug 30, 2018)
criteria provided, single submitterVCV000598591
82.
GRCh37:
Chr6:137146380
GRCh38:
Chr6:136825242
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Oct 31, 2020)
criteria provided, single submitterVCV001129223
83.
GRCh37:
Chr6:137146392
GRCh38:
Chr6:136825254
PEX7Peroxisome biogenesis disorder 9B, not providedConflicting interpretations of pathogenicity
(Nov 21, 2020)
criteria provided, conflicting interpretationsVCV000597858
84.
GRCh37:
Chr6:137146398
GRCh38:
Chr6:136825260
PEX7R59Snot providedUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000595761
85.
GRCh37:
Chr6:137146400
GRCh38:
Chr6:136825262
PEX7F61fsPeroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B,
Rhizomelic chondrodysplasia punctata type 1
Pathogenic/Likely pathogenic
(May 20, 2020)
criteria provided, multiple submitters, no conflictsVCV000225436
86.
GRCh37:
Chr6:137146404
GRCh38:
Chr6:136825266
PEX7F61Lnot providedUncertain significance
(Sep 13, 2017)
criteria provided, single submitterVCV000594068
87.
GRCh37:
Chr6:137146410
GRCh38:
Chr6:136825272
PEX7Rhizomelic chondrodysplasia punctata type 1Pathogeniccriteria provided, single submitterVCV000813363
88.
GRCh37:
Chr6:137146410
GRCh38:
Chr6:136825272
PEX7Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1Pathogenic/Likely pathogenic
(Oct 12, 2020)
criteria provided, multiple submitters, no conflictsVCV000188975
89.
GRCh37:
Chr6:137146412
GRCh38:
Chr6:136825274
PEX7not provided, Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1,
Intellectual disability
Uncertain significance
(Sep 12, 2019)
criteria provided, multiple submitters, no conflictsVCV000355529
90.
GRCh37:
Chr6:137146662
GRCh38:
Chr6:136825524
PEX7not providedLikely benign
(May 5, 2020)
criteria provided, single submitterVCV001191746
91.
GRCh37:
Chr6:137147455
GRCh38:
Chr6:136826317
PEX7Rhizomelic chondrodysplasia punctata type 1Likely pathogenic
(Nov 28, 2017)
criteria provided, single submitterVCV000555298
92.
GRCh37:
Chr6:137147461
GRCh38:
Chr6:136826323
PEX7D65NPeroxisome biogenesis disorder 9BUncertain significance
(Sep 5, 2020)
criteria provided, single submitterVCV001041978
93.
GRCh37:
Chr6:137147471
GRCh38:
Chr6:136826333
PEX7D68VPeroxisome biogenesis disorder 9B, not providedUncertain significance
(Nov 8, 2019)
criteria provided, multiple submitters, no conflictsVCV000497448
94.
GRCh37:
Chr6:137147479
GRCh38:
Chr6:136826341
PEX7F71fsnot providedPathogenic
(Jun 29, 2017)
criteria provided, single submitterVCV000502657
95.
GRCh37:
Chr6:137147484
GRCh38:
Chr6:136826346
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Jul 11, 2019)
criteria provided, single submitterVCV000798421
96.
GRCh37:
Chr6:137147493
GRCh38:
Chr6:136826355
PEX7W75CRhizomelic chondrodysplasia punctata type 1Uncertain significance
(Jan 5, 2017)
criteria provided, single submitterVCV000550311
97.
GRCh37:
Chr6:137147500
GRCh38:
Chr6:136826362
PEX7N78fsRhizomelic chondrodysplasia punctata type 1Likely pathogeniccriteria provided, single submitterVCV000813364
98.
GRCh37:
Chr6:137147502
GRCh38:
Chr6:136826364
PEX7N78Knone provided, Peroxisome biogenesis disorder 9BConflicting interpretations of pathogenicity
(Nov 21, 2020)
criteria provided, conflicting interpretationsVCV000994433
99.
GRCh37:
Chr6:137147505
GRCh38:
Chr6:136826367
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Oct 29, 2020)
criteria provided, single submitterVCV001149769
100.
GRCh37:
Chr6:137147508
GRCh38:
Chr6:136826370
PEX7Peroxisome biogenesis disorder 9BLikely benign
(Jun 30, 2020)
criteria provided, single submitterVCV001134602
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