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Items: 1 to 100 of 334

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr12:110011486
GRCh38:
Chr12:109573681
MVKnot providedLikely benign
(Jun 29, 2018)
criteria provided, single submitterVCV001211163
2.
GRCh37:
Chr12:110011638
GRCh38:
Chr12:109573833
MVKHyperimmunoglobulin D with periodic fever, Mevalonic aciduriaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307087
3.
GRCh37:
Chr12:110011660
GRCh38:
Chr12:109573855
MVKHyperimmunoglobulin D with periodic fever, Mevalonic aciduriaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307088
4.
GRCh37:
Chr12:110011664
GRCh38:
Chr12:109573859
MVKnot specifiedLikely benign
(Dec 21, 2016)
criteria provided, single submitterVCV000391960
5.
GRCh37:
Chr12:110011678
GRCh38:
Chr12:109573873
MVKHyperimmunoglobulin D with periodic fever, Mevalonic aciduriaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000307089
6.
GRCh37:
Chr12:110011689
GRCh38:
Chr12:109573884
MVKnot specified, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
Benign/Likely benign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000307090
7.
GRCh37:
Chr12:110011694
GRCh38:
Chr12:109573889
MVKnot specifiedLikely benign
(Jul 3, 2017)
criteria provided, single submitterVCV000389976
8.
GRCh37:
Chr12:110011739
GRCh38:
Chr12:109573934
MVKnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001278576
9.
GRCh37:
Chr12:110012467
GRCh38:
Chr12:109574662
MVKnot providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001287574
10.
GRCh37:
Chr12:110012510
GRCh38:
Chr12:109574705
MVKnot providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001292732
11.
GRCh37:
Chr12:110012597
GRCh38:
Chr12:109574792
MVKnot providedLikely benign
(Apr 10, 2018)
criteria provided, single submitterVCV000669086
12.
GRCh37:
Chr12:110012606
GRCh38:
Chr12:109574801
MVKnot specifiedLikely benign
(Jun 12, 2017)
criteria provided, single submitterVCV000510281
13.
GRCh37:
Chr12:110012612-110012703
GRCh38:
Chr12:109574807-109574898
MVKHyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097559
14.
GRCh37:
Chr12:110012641
GRCh38:
Chr12:109574836
MVKV5AMevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever,
not provided, Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
Uncertain significance
(Feb 13, 2020)
criteria provided, multiple submitters, no conflictsVCV000234376
15.
GRCh37:
Chr12:110012643-110012661
GRCh38:
Chr12:109574838-109574856
MVKL6fsMevalonic aciduria, Hyperimmunoglobulin D with periodic feverPathogenic
(Mar 1, 2005)
no assertion criteria providedVCV000011935
16.
GRCh37:
Chr12:110012645
GRCh38:
Chr12:109574840
MVKnot providedLikely benign
(May 1, 2021)
criteria provided, single submitterVCV001175836
17.
GRCh37:
Chr12:110012646
GRCh38:
Chr12:109574841
MVKMevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever
Likely benign
(Sep 25, 2020)
criteria provided, single submitterVCV001151893
18.
GRCh37:
Chr12:110012649
GRCh38:
Chr12:109574844
MVKV8LHyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097577
19.
GRCh37:
Chr12:110012656
GRCh38:
Chr12:109574851
MVKA10Vnot providedUncertain significance
(Jan 1, 2020)
criteria provided, single submitterVCV000872779
20.
GRCh37:
Chr12:110012659
GRCh38:
Chr12:109574854
MVKP11Lnot providedUncertain significance
(Mar 30, 2016)
criteria provided, single submitterVCV000234377
21.
GRCh37:
Chr12:110012660
GRCh38:
Chr12:109574855
MVKHyperimmunoglobulin D with periodic fever, Mevalonic aciduriaUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000882748
22.
GRCh37:
Chr12:110012663
GRCh38:
Chr12:109574858
MVKPorokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
Uncertain significance
(Aug 23, 2019)
criteria provided, single submitterVCV000935668
23.
GRCh37:
Chr12:110012664
GRCh38:
Chr12:109574859
MVKK13QHyperimmunoglobulin D with periodic fever, Mevalonic aciduriaUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000882749
24.
GRCh37:
Chr12:110012664
GRCh38:
Chr12:109574859
MVKK13*Hyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097585
25.
GRCh37:
Chr12:110012685
GRCh38:
Chr12:109574880
MVKH20NHyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type
Pathogenic
(Jul 1, 2019)
criteria provided, single submitterVCV000649235
26.
GRCh37:
Chr12:110012686
GRCh38:
Chr12:109574881
MVKH20Pnot provided, Hyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type,
Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
Pathogenic
(Oct 9, 2019)
criteria provided, multiple submitters, no conflictsVCV000011931
27.
GRCh37:
Chr12:110012687
GRCh38:
Chr12:109574882
MVKMevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type
Likely benign
(Jun 15, 2020)
criteria provided, single submitterVCV001094379
28.
GRCh37:
Chr12:110012687
GRCh38:
Chr12:109574882
MVKH20QHyperimmunoglobulin D with periodic fever, not providedLikely pathogenic
(Dec 18, 2019)
criteria provided, single submitterVCV000097602
29.
GRCh37:
Chr12:110012698-110012699
GRCh38:
Chr12:109574893-109574894
MVKG25fsMevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type,
Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
Pathogenic
(Aug 15, 2018)
criteria provided, single submitterVCV000088836
30.
GRCh37:
Chr12:110012702
GRCh38:
Chr12:109574897
MVKHyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097617
31.
GRCh37:
Chr12:110012705
GRCh38:
Chr12:109574900
MVKnot providedUncertain significance
(Apr 22, 2019)
criteria provided, single submitterVCV001188196
32.
GRCh37:
Chr12:110012706
GRCh38:
Chr12:109574901
MVKHyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria
Likely pathogenic
(Sep 3, 2019)
criteria provided, single submitterVCV000960301
33.
GRCh37:
Chr12:110012707
GRCh38:
Chr12:109574902
MVKHyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097623
34.
GRCh37:
Chr12:110012712-110012715
GRCh38:
Chr12:109574907-109574910
MVKMevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever,
not specified
Likely benign
(Oct 1, 2020)
criteria provided, multiple submitters, no conflictsVCV000246309
35.
GRCh37:
Chr12:110012713
GRCh38:
Chr12:109574908
MVKHyperimmunoglobulin D with periodic fever, Mevalonic aciduriaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307091
36.
GRCh37:
Chr12:110012766
GRCh38:
Chr12:109574961
MVKnot specified, not providedBenign
(Jul 7, 2018)
criteria provided, multiple submitters, no conflictsVCV000439924
37.
GRCh37:
Chr12:110012810
GRCh38:
Chr12:109575005
MVKnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001224579
38.
GRCh37:
Chr12:110012846
GRCh38:
Chr12:109575041
MVKnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001225628
39.
GRCh37:
Chr12:110012882
GRCh38:
Chr12:109575077
MVKnot provided, Hyperimmunoglobulin D with periodic feverBenign
(Mar 3, 2015)
criteria provided, single submitterVCV000097622
40.
GRCh37:
Chr12:110012970
GRCh38:
Chr12:109575165
MVKnot providedLikely benign
(Jul 9, 2018)
criteria provided, single submitterVCV001212758
41.
GRCh37:
Chr12:110013627
GRCh38:
Chr12:109575822
MVKnot providedLikely benign
(Jul 14, 2018)
criteria provided, single submitterVCV001205653
42.
GRCh37:
Chr12:110013639
GRCh38:
Chr12:109575834
MVKnot specified, not providedBenign
(Jul 3, 2018)
criteria provided, multiple submitters, no conflictsVCV000439921
43.
GRCh37:
Chr12:110013741
GRCh38:
Chr12:109575936
MVKHyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097624
44.
GRCh37:
Chr12:110013801
GRCh38:
Chr12:109575996
MVKHyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria
Likely pathogenic
(Aug 26, 2019)
criteria provided, single submitterVCV000943304
45.
GRCh37:
Chr12:110013804
GRCh38:
Chr12:109575999
MVKV27GHyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria
Uncertain significance
(Aug 26, 2019)
criteria provided, single submitterVCV000943307
46.
GRCh37:
Chr12:110013810
GRCh38:
Chr12:109576005
MVKL29fsHyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097635
47.
GRCh37:
Chr12:110013828
GRCh38:
Chr12:109576023
MVKL35SHyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097563
48.
GRCh37:
Chr12:110013840
GRCh38:
Chr12:109576035
MVKL39PHyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097573
49.
GRCh37:
Chr12:110013843
GRCh38:
Chr12:109576038
MVKR40QPorokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria,
not provided
Uncertain significance
(Apr 25, 2018)
criteria provided, multiple submitters, no conflictsVCV000579239
50.
GRCh37:
Chr12:110013846
GRCh38:
Chr12:109576041
MVKL41PPorokeratosis 3, disseminated superficial actinic typePathogenic
(Oct 1, 2012)
no assertion criteria providedVCV000039728
51.
GRCh37:
Chr12:110013851-110013852
GRCh38:
Chr12:109576046-109576047
MVKH44fsMevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever,
Hyperimmunoglobulin D with periodic fever
Pathogenic
(May 13, 2019)
criteria provided, single submitterVCV000097574
52.
GRCh37:
Chr12:110013868
GRCh38:
Chr12:109576063
MVKMevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type
Likely benign
(Feb 7, 2019)
criteria provided, single submitterVCV001093455
53.
GRCh37:
Chr12:110013875
GRCh38:
Chr12:109576070
MVKL51Fnot providedUncertain significance
(Jun 30, 2017)
criteria provided, single submitterVCV000618224
54.
GRCh37:
Chr12:110013879
GRCh38:
Chr12:109576074
MVKS52Inot providedUncertain significance
(Jul 1, 2019)
criteria provided, single submitterVCV000872780
55.
GRCh37:
Chr12:110013890
GRCh38:
Chr12:109576085
MVKI56VPorokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
Uncertain significance
(Aug 21, 2018)
criteria provided, single submitterVCV000664958
56.
GRCh37:
Chr12:110013902
GRCh38:
Chr12:109576097
MVKR60WMevalonic aciduria, Hyperimmunoglobulin D with periodic feverUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000883541
57.
GRCh37:
Chr12:110013909
GRCh38:
Chr12:109576104
MVKW62*Hyperimmunoglobulin D with periodic fever, not providedPathogenicno assertion criteria providedVCV000097576
58.
GRCh37:
Chr12:110013911
GRCh38:
Chr12:109576106
MVKD63NHyperimmunoglobulin D with periodic fever, Mevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type
Uncertain significance
(Dec 2, 2019)
criteria provided, single submitterVCV000861832
59.
GRCh37:
Chr12:110013940
GRCh38:
Chr12:109576135
MVKnot providedLikely benignno assertion criteria providedVCV001284675
60.
GRCh37:
Chr12:110013954
GRCh38:
Chr12:109576149
MVKnot provided, Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever,
Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
Benign/Likely benign
(Dec 28, 2020)
criteria provided, multiple submitters, no conflictsVCV000234378
61.
GRCh37:
Chr12:110013958
GRCh38:
Chr12:109576153
MVKnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001246432
62.
GRCh37:
Chr12:110014055
GRCh38:
Chr12:109576250
MVKnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001265816
63.
GRCh37:
Chr12:110014056
GRCh38:
Chr12:109576251
MVKnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001229234
64.
GRCh37:
Chr12:110014130
GRCh38:
Chr12:109576325
MVKnot providedLikely benign
(Jul 10, 2018)
criteria provided, single submitterVCV001220291
65.
GRCh37:
Chr12:110017567
GRCh38:
Chr12:109579762
MVKnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001241340
66.
GRCh37:
Chr12:110017589
GRCh38:
Chr12:109579784
MVKnot providedUncertain significance
(Jun 2, 2015)
criteria provided, single submitterVCV000234493
67.
GRCh37:
Chr12:110017607
GRCh38:
Chr12:109579802
MVKE76GPorokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
Uncertain significance
(Jun 26, 2019)
criteria provided, single submitterVCV000642096
68.
GRCh37:
Chr12:110017618
GRCh38:
Chr12:109579813
MVKV80Inot provided, Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever,
Porokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever,
none provided
Conflicting interpretations of pathogenicity
(Nov 21, 2020)
criteria provided, conflicting interpretationsVCV000097578
69.
GRCh37:
Chr12:110017624
GRCh38:
Chr12:109579819
MVKT82AHyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria
Uncertain significance
(Mar 29, 2020)
criteria provided, single submitterVCV001061884
70.
GRCh37:
Chr12:110017634
GRCh38:
Chr12:109579829
MVKS85LMevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever
Uncertain significance
(Aug 14, 2020)
criteria provided, single submitterVCV001023895
71.
GRCh37:
Chr12:110017638
GRCh38:
Chr12:109579833
MVKMevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever,
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
Conflicting interpretations of pathogenicity
(Jun 26, 2020)
criteria provided, conflicting interpretationsVCV000881172
72.
GRCh37:
Chr12:110017656-110017662
GRCh38:
Chr12:109579851-109579857
MVKE93fsMVK-Related Disorders, Hyperimmunoglobulin D with periodic feverUncertain significance
(Oct 5, 2017)
criteria provided, single submitterVCV000097579
73.
GRCh37:
Chr12:110017667
GRCh38:
Chr12:109579862
MVKG96Vnot providedUncertain significance
(Apr 5, 2018)
criteria provided, single submitterVCV000596661
74.
GRCh37:
Chr12:110017674
GRCh38:
Chr12:109579869
MVKPorokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
Likely benign
(Jan 10, 2019)
criteria provided, single submitterVCV000799925
75.
GRCh37:
Chr12:110017677
GRCh38:
Chr12:109579872
MVKnot provided, Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever,
Mevalonic aciduria
Likely benign
(Feb 24, 2020)
criteria provided, multiple submitters, no conflictsVCV000736383
76.
GRCh37:
Chr12:110017678
GRCh38:
Chr12:109579873
MVKD100NMevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever,
not provided
Uncertain significance
(Jul 1, 2019)
criteria provided, multiple submitters, no conflictsVCV000863857
77.
GRCh37:
Chr12:110017682
GRCh38:
Chr12:109579877
MVKC101YHyperimmunoglobulin D with periodic fever, Mevalonic aciduriaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307092
78.
GRCh37:
Chr12:110017697
GRCh38:
Chr12:109579892
MVKR106HHyperimmunoglobulin D with periodic fever, Mevalonic aciduriaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000307093
79.
GRCh37:
Chr12:110017707
GRCh38:
Chr12:109579902
MVKnot providedLikely benign
(Mar 29, 2018)
criteria provided, single submitterVCV000746846
80.
GRCh37:
Chr12:110017711
GRCh38:
Chr12:109579906
MVKA111TMevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever,
Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
Uncertain significance
(Jun 28, 2019)
criteria provided, multiple submitters, no conflictsVCV000307094
81.
GRCh37:
Chr12:110017717-110017721
GRCh38:
Chr12:109579912-109579916
MVKY114fsHyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097580
82.
GRCh37:
Chr12:110017726
GRCh38:
Chr12:109579921
MVKY116Hnot provided, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria,
Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever
Pathogenic
(Jul 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000097581
83.
GRCh37:
Chr12:110017729
GRCh38:
Chr12:109579924
MVKL117VPorokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
Uncertain significance
(Oct 14, 2019)
criteria provided, single submitterVCV000966253
84.
GRCh37:
Chr12:110017729-110017730
GRCh38:
Chr12:109579924-109579925
MVKL117fsnot providedLikely pathogenic
(Jun 25, 2018)
criteria provided, single submitterVCV000636691
85.
GRCh37:
Chr12:110017729
GRCh38:
Chr12:109579924
MVKHyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria,
not provided
Likely benign
(Aug 19, 2020)
criteria provided, multiple submitters, no conflictsVCV000546721
86.
GRCh37:
Chr12:110017737
GRCh38:
Chr12:109579932
MVKI119MHyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097582
87.
GRCh37:
Chr12:110017741
GRCh38:
Chr12:109579936
MVKR121WMevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever
Uncertain significance
(Sep 3, 2019)
criteria provided, single submitterVCV000837299
88.
GRCh37:
Chr12:110017742
GRCh38:
Chr12:109579937
MVKR121QPorokeratosis 3, disseminated superficial actinic type, not providedUncertain significance
(Nov 3, 2021)
criteria provided, multiple submitters, no conflictsVCV001214350
89.
GRCh37:
Chr12:110017748
GRCh38:
Chr12:109579943
MVKQ123LPorokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
Uncertain significance
(Sep 30, 2020)
criteria provided, single submitterVCV001045192
90.
GRCh37:
Chr12:110017751-110017752
GRCh38:
Chr12:109579946-109579947
MVKPorokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
Uncertain significance
(Aug 28, 2018)
criteria provided, single submitterVCV000641952
91.
GRCh37:
Chr12:110017755
GRCh38:
Chr12:109579950
MVKPorokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
Uncertain significance
(Jul 12, 2019)
criteria provided, single submitterVCV000944766
92.
GRCh37:
Chr12:110017759
GRCh38:
Chr12:109579954
MVKnot specified, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria,
Porokeratosis 3, disseminated superficial actinic type, not provided, none provided,
Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
Benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000256113
93.
GRCh37:
Chr12:110017760
GRCh38:
Chr12:109579955
MVKMevalonic aciduria, Porokeratosis 3, disseminated superficial actinic type, Hyperimmunoglobulin D with periodic fever,
not specified
Likely benign
(May 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000439925
94.
GRCh37:
Chr12:110017764
GRCh38:
Chr12:109579959
MVKnot provided, Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria,
none provided
Conflicting interpretations of pathogenicity
(Aug 24, 2020)
criteria provided, conflicting interpretationsVCV000307095
95.
GRCh37:
Chr12:110018064-110018065
GRCh38:
Chr12:109580259-109580260
MVKnot providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000680656
96.
GRCh37:
Chr12:110018898
GRCh38:
Chr12:109581093
MVKnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000680643
97.
GRCh37:
Chr12:110019191
GRCh38:
Chr12:109581386
MVKHyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type, Mevalonic aciduria
Likely benign
(Oct 19, 2020)
criteria provided, single submitterVCV001116176
98.
GRCh37:
Chr12:110019197
GRCh38:
Chr12:109581392
MVKHyperimmunoglobulin D with periodic fevernot providedno assertion providedVCV000097583
99.
GRCh37:
Chr12:110019208
GRCh38:
Chr12:109581403
MVKP127LMevalonic aciduriaPathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000812109
100.
GRCh37:
Chr12:110019209
GRCh38:
Chr12:109581404
MVKnot specified, not provided, Hyperimmunoglobulin D with periodic fever,
Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever, Porokeratosis 3, disseminated superficial actinic type,
Mevalonic aciduria
Benign/Likely benign
(Nov 25, 2020)
criteria provided, multiple submitters, no conflictsVCV000138313
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