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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr12:58144005
GRCh38:
Chr12:57750222
CDK4Hereditary cancer-predisposing syndromeLikely benign
(Dec 1, 2015)
no assertion criteria providedVCV000223662
2.
GRCh37:
Chr12:58144420
GRCh38:
Chr12:57750637
CDK4not providedLikely benign
(Jan 2, 2018)
criteria provided, single submitterVCV000560766
3.
GRCh37:
Chr12:58144429-58145510
GRCh38:
Chr12:57750646-57751727
CDK4Hereditary melanomaUncertain significance
(Nov 18, 2019)
criteria provided, single submitterVCV000583424
4.
GRCh37:
Chr12:58144429
GRCh38:
Chr12:57750646
CDK4Hereditary melanoma, not providedLikely benign
(Sep 13, 2018)
criteria provided, single submitterVCV000463474
5.
GRCh37:
Chr12:58144430
GRCh38:
Chr12:57750647
CDK4Hereditary melanoma, Cutaneous malignant melanoma 3Conflicting interpretations of pathogenicity
(Jul 2, 2018)
criteria provided, conflicting interpretationsVCV000463475
6.
GRCh37:
Chr12:58144431
GRCh38:
Chr12:57750648
CDK4Hereditary melanomaLikely benign
(Jul 20, 2020)
criteria provided, single submitterVCV001104870
7.
GRCh37:
Chr12:58144431-58144432
GRCh38:
Chr12:57750648-57750649
CDK4not specifiedUncertain significance
(Sep 2, 2016)
criteria provided, single submitterVCV000439047
8.
GRCh37:
Chr12:58144432
GRCh38:
Chr12:57750649
CDK4Hereditary melanomaLikely benign
(Jan 22, 2020)
criteria provided, single submitterVCV001122011
9.
GRCh37:
Chr12:58144433
GRCh38:
Chr12:57750650
CDK4Hereditary melanomaUncertain significance
(Jul 29, 2020)
criteria provided, single submitterVCV001006266
10.
GRCh37:
Chr12:58144433-58145506
GRCh38:
Chr12:57750650-57751723
CDK4Hereditary melanomaUncertain significance
(Apr 3, 2018)
criteria provided, single submitterVCV000584024
11.
GRCh37:
Chr12:58144435
GRCh38:
Chr12:57750652
CDK4Hereditary cancer-predisposing syndromeUncertain significance
(Aug 4, 2019)
criteria provided, single submitterVCV000826324
12.
GRCh37:
Chr12:58144439
GRCh38:
Chr12:57750656
CDK4K211MHereditary cancer-predisposing syndromeUncertain significance
(Mar 18, 2019)
criteria provided, single submitterVCV000826327
13.
GRCh37:
Chr12:58144439
GRCh38:
Chr12:57750656
CDK4K211THereditary cancer-predisposing syndromeUncertain significance
(Jun 10, 2019)
criteria provided, single submitterVCV000485496
14.
GRCh37:
Chr12:58144441
GRCh38:
Chr12:57750658
CDK4Hereditary melanomaLikely benign
(Jun 3, 2020)
criteria provided, single submitterVCV001121591
15.
GRCh37:
Chr12:58144441
GRCh38:
Chr12:57750658
CDK4Hereditary melanomaLikely benign
(Nov 10, 2020)
criteria provided, single submitterVCV001077907
16.
GRCh37:
Chr12:58144442
GRCh38:
Chr12:57750659
CDK4R210LHereditary melanomaUncertain significance
(Sep 30, 2020)
criteria provided, single submitterVCV001039892
17.
GRCh37:
Chr12:58144442
GRCh38:
Chr12:57750659
CDK4R210QHereditary melanoma, Cutaneous malignant melanoma 3, Hereditary cancer-predisposing syndrome
Uncertain significance
(Nov 3, 2021)
criteria provided, multiple submitters, no conflictsVCV000463473
18.
GRCh37:
Chr12:58144442
GRCh38:
Chr12:57750659
CDK4R210PHereditary cancer-predisposing syndrome, not provided, Hereditary melanoma
Uncertain significance
(Oct 29, 2021)
criteria provided, multiple submitters, no conflictsVCV000236945
19.
GRCh37:
Chr12:58144443
GRCh38:
Chr12:57750660
CDK4R210*Hereditary melanomaUncertain significance
(Jan 25, 2019)
criteria provided, single submitterVCV000639188
20.
GRCh37:
Chr12:58144445
GRCh38:
Chr12:57750662
CDK4R209HHereditary cancer-predisposing syndrome, Hereditary melanomaUncertain significance
(Oct 25, 2020)
criteria provided, multiple submitters, no conflictsVCV000463472
21.
GRCh37:
Chr12:58144446
GRCh38:
Chr12:57750663
CDK4R209CCutaneous malignant melanoma 3, not provided, Hereditary melanoma,
Hereditary cancer-predisposing syndrome, not specified, Hepatoblastoma
Conflicting interpretations of pathogenicity
(Nov 3, 2021)
criteria provided, conflicting interpretationsVCV000135825
22.
GRCh37:
Chr12:58144451
GRCh38:
Chr12:57750668
CDK4M207KHereditary melanomaUncertain significance
(Dec 19, 2019)
criteria provided, single submitterVCV000852173
23.
GRCh37:
Chr12:58144451
GRCh38:
Chr12:57750668
CDK4M207THereditary melanomaUncertain significance
(Feb 1, 2019)
criteria provided, single submitterVCV000845161
24.
GRCh37:
Chr12:58144458
GRCh38:
Chr12:57750675
CDK4A205THereditary melanomaUncertain significance
(Oct 1, 2018)
criteria provided, single submitterVCV000641595
25.
GRCh37:
Chr12:58144459
GRCh38:
Chr12:57750676
CDK4Hereditary melanoma, Hereditary cancer-predisposing syndromeLikely benign
(Sep 25, 2019)
criteria provided, multiple submitters, no conflictsVCV000483302
26.
GRCh37:
Chr12:58144461
GRCh38:
Chr12:57750678
CDK4F204IHereditary melanomaUncertain significance
(Oct 25, 2019)
criteria provided, single submitterVCV000959393
27.
GRCh37:
Chr12:58144462
GRCh38:
Chr12:57750679
CDK4not provided, Hereditary melanomaLikely benign
(Oct 30, 2015)
criteria provided, single submitterVCV000220383
28.
GRCh37:
Chr12:58144466
GRCh38:
Chr12:57750683
CDK4C202Snot specified, Hereditary melanoma, Hereditary cancer-predisposing syndrome
Uncertain significance
(Jul 5, 2021)
criteria provided, multiple submitters, no conflictsVCV000463471
29.
GRCh37:
Chr12:58144468
GRCh38:
Chr12:57750685
CDK4Hereditary melanomaLikely benign
(Apr 30, 2019)
criteria provided, single submitterVCV001143350
30.
GRCh37:
Chr12:58144471
GRCh38:
Chr12:57750688
CDK4Hereditary melanomaLikely benign
(Apr 11, 2020)
criteria provided, single submitterVCV001117640
31.
GRCh37:
Chr12:58144472
GRCh38:
Chr12:57750689
CDK4V200AHereditary melanoma, Hereditary cancer-predisposing syndromeUncertain significance
(Mar 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000408335
32.
GRCh37:
Chr12:58144474
GRCh38:
Chr12:57750691
CDK4Hereditary melanoma, not provided, Hereditary cancer-predisposing syndrome
Likely benign
(Jul 13, 2018)
criteria provided, multiple submitters, no conflictsVCV000770189
33.
GRCh37:
Chr12:58144481
GRCh38:
Chr12:57750698
CDK4M197THereditary melanomaUncertain significance
(Aug 14, 2019)
criteria provided, single submitterVCV000954466
34.
GRCh37:
Chr12:58144483
GRCh38:
Chr12:57750700
CDK4Hereditary melanomaLikely benign
(Sep 10, 2020)
criteria provided, single submitterVCV001107811
35.
GRCh37:
Chr12:58144488
GRCh38:
Chr12:57750705
CDK4V195MHereditary melanomaUncertain significance
(Nov 10, 2019)
criteria provided, single submitterVCV000943646
36.
GRCh37:
Chr12:58144490
GRCh38:
Chr12:57750707
CDK4P194HHereditary melanomaUncertain significance
(Jan 5, 2019)
criteria provided, single submitterVCV000845643
37.
GRCh37:
Chr12:58144490
GRCh38:
Chr12:57750707
CDK4P194LHereditary melanoma, Hereditary cancer-predisposing syndromeUncertain significance
(Aug 6, 2020)
criteria provided, multiple submitters, no conflictsVCV000483290
38.
GRCh37:
Chr12:58144491
GRCh38:
Chr12:57750708
CDK4P194SHereditary cancer-predisposing syndrome, Hereditary melanomaUncertain significance
(Mar 11, 2019)
criteria provided, multiple submitters, no conflictsVCV000485495
39.
GRCh37:
Chr12:58144493
GRCh38:
Chr12:57750710
CDK4T193IHereditary melanomaUncertain significance
(Aug 25, 2019)
criteria provided, single submitterVCV000937871
40.
GRCh37:
Chr12:58144495
GRCh38:
Chr12:57750712
CDK4Hereditary cancer-predisposing syndromeLikely benign
(Apr 30, 2018)
criteria provided, single submitterVCV000825952
41.
GRCh37:
Chr12:58144498
GRCh38:
Chr12:57750715
CDK4Hereditary melanoma, Hereditary cancer-predisposing syndromeLikely benign
(Jul 1, 2020)
criteria provided, multiple submitters, no conflictsVCV000236944
42.
GRCh37:
Chr12:58144499
GRCh38:
Chr12:57750716
CDK4Y191CCutaneous malignant melanoma 3, Hereditary melanomaUncertain significance
(Nov 3, 2021)
criteria provided, multiple submitters, no conflictsVCV000935284
43.
GRCh37:
Chr12:58144500
GRCh38:
Chr12:57750717
CDK4Y191NHereditary melanomaUncertain significance
(Oct 8, 2020)
criteria provided, single submitterVCV001047485
44.
GRCh37:
Chr12:58144500
GRCh38:
Chr12:57750717
CDK4Y191HHereditary melanomaUncertain significance
(Sep 20, 2019)
criteria provided, single submitterVCV000938850
45.
GRCh37:
Chr12:58144504-58144522
GRCh38:
Chr12:57750721-57750739
CDK4E184fsHereditary melanomaUncertain significance
(May 11, 2020)
criteria provided, single submitterVCV000860503
46.
GRCh37:
Chr12:58144504
GRCh38:
Chr12:57750721
CDK4Hereditary melanoma, Hereditary cancer-predisposing syndromeLikely benign
(Nov 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000233161
47.
GRCh37:
Chr12:58144507
GRCh38:
Chr12:57750724
CDK4not specifiedLikely benign
(Feb 5, 2016)
criteria provided, single submitterVCV000383588
48.
GRCh37:
Chr12:58144509
GRCh38:
Chr12:57750726
CDK4Q188KHereditary cancer-predisposing syndromeUncertain significance
(Jul 7, 2017)
criteria provided, single submitterVCV000483316
49.
GRCh37:
Chr12:58144510
GRCh38:
Chr12:57750727
CDK4Hereditary melanoma, Hereditary cancer-predisposing syndrome, not provided
Likely benign
(Nov 21, 2016)
criteria provided, multiple submitters, no conflictsVCV000220009
50.
GRCh37:
Chr12:58144511
GRCh38:
Chr12:57750728
CDK4L187RHereditary melanomaUncertain significance
(Apr 25, 2019)
criteria provided, single submitterVCV000949057
51.
GRCh37:
Chr12:58144518
GRCh38:
Chr12:57750735
CDK4V185IHereditary melanoma, not providedUncertain significance
(Mar 24, 2020)
criteria provided, multiple submitters, no conflictsVCV000993215
52.
GRCh37:
Chr12:58144519
GRCh38:
Chr12:57750736
CDK4Hereditary melanomaLikely benign
(Mar 12, 2019)
criteria provided, single submitterVCV001130534
53.
GRCh37:
Chr12:58144521
GRCh38:
Chr12:57750738
CDK4E184KHereditary cancer-predisposing syndrome, Hereditary melanomaUncertain significance
(Sep 17, 2020)
criteria provided, multiple submitters, no conflictsVCV000825795
54.
GRCh37:
Chr12:58144522
GRCh38:
Chr12:57750739
CDK4Hereditary melanomaLikely benign
(Jun 29, 2019)
criteria provided, single submitterVCV001136120
55.
GRCh37:
Chr12:58144522
GRCh38:
Chr12:57750739
CDK4not provided, Hereditary melanoma, Hereditary cancer-predisposing syndrome,
not specified, Cutaneous malignant melanoma 3
Benign/Likely benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000186813
56.
GRCh37:
Chr12:58144528
GRCh38:
Chr12:57750745
CDK4Hereditary melanomaLikely benign
(Aug 21, 2020)
criteria provided, single submitterVCV000414919
57.
GRCh37:
Chr12:58144529
GRCh38:
Chr12:57750746
CDK4R181QHereditary cancer-predisposing syndrome, Hereditary melanomaUncertain significance
(Aug 7, 2020)
criteria provided, multiple submitters, no conflictsVCV000483287
58.
GRCh37:
Chr12:58144530
GRCh38:
Chr12:57750747
CDK4R181GHereditary melanomaUncertain significance
(Oct 3, 2018)
criteria provided, single submitterVCV000662499
59.
GRCh37:
Chr12:58144537
GRCh38:
Chr12:57750754
CDK4Hereditary cancer-predisposing syndrome, not provided, Hereditary melanoma
Likely benign
(Dec 13, 2019)
criteria provided, multiple submitters, no conflictsVCV000681532
60.
GRCh37:
Chr12:58144537
GRCh38:
Chr12:57750754
CDK4Hereditary melanoma, Hereditary cancer-predisposing syndromeLikely benign
(Jul 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000485484
61.
GRCh37:
Chr12:58144539
GRCh38:
Chr12:57750756
CDK4L178FHereditary cancer-predisposing syndrome, Hereditary melanomaUncertain significance
(Sep 10, 2020)
criteria provided, multiple submitters, no conflictsVCV000825656
62.
GRCh37:
Chr12:58144542
GRCh38:
Chr12:57750759
CDK4T177AHereditary cancer-predisposing syndromeUncertain significance
(Jun 1, 2017)
criteria provided, single submitterVCV000483313
63.
GRCh37:
Chr12:58144548
GRCh38:
Chr12:57750765
CDK4V175IHereditary melanoma, Hereditary cancer-predisposing syndrome, not specified
Uncertain significance
(Oct 21, 2020)
criteria provided, multiple submitters, no conflictsVCV000133875
64.
GRCh37:
Chr12:58144552
GRCh38:
Chr12:57750769
CDK4Hereditary melanoma, not provided, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Nov 23, 2020)
criteria provided, conflicting interpretationsVCV000135824
65.
GRCh37:
Chr12:58144555
GRCh38:
Chr12:57750772
CDK4Hereditary melanomaLikely benign
(Sep 26, 2019)
criteria provided, single submitterVCV001084916
66.
GRCh37:
Chr12:58144558
GRCh38:
Chr12:57750775
CDK4not provided, Hereditary melanomaLikely benign
(Aug 12, 2016)
criteria provided, single submitterVCV000414925
67.
GRCh37:
Chr12:58144568
GRCh38:
Chr12:57750785
CDK4Cutaneous malignant melanoma 3Likely benign
(May 28, 2019)
criteria provided, single submitterVCV000802868
68.
GRCh37:
Chr12:58144665
GRCh38:
Chr12:57750882
CDK4not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001292556
69.
GRCh37:
Chr12:58144688
GRCh38:
Chr12:57750905
CDK4not specifiedLikely benign
(Feb 17, 2017)
criteria provided, single submitterVCV000517768
70.
GRCh37:
Chr12:58144698
GRCh38:
Chr12:57750915
CDK4Hereditary melanoma, Hereditary cancer-predisposing syndrome, not provided,
not specified
Benign
(Nov 21, 2020)
criteria provided, multiple submitters, no conflictsVCV000215439
71.
GRCh37:
Chr12:58144699
GRCh38:
Chr12:57750916
CDK4Hereditary melanomaLikely benign
(Nov 11, 2019)
criteria provided, single submitterVCV000753802
72.
GRCh37:
Chr12:58144701-58144723
GRCh38:
Chr12:57750918-57750940
CDK4Cutaneous malignant melanoma 3Uncertain significance
(May 10, 2017)
criteria provided, single submitterVCV000548744
73.
GRCh37:
Chr12:58144702
GRCh38:
Chr12:57750919
CDK4Hereditary cancer-predisposing syndromeUncertain significance
(Dec 31, 2018)
criteria provided, single submitterVCV000825564
74.
GRCh37:
Chr12:58144705
GRCh38:
Chr12:57750922
CDK4Hereditary cancer-predisposing syndromeUncertain significance
(Dec 14, 2018)
criteria provided, single submitterVCV000825563
75.
GRCh37:
Chr12:58144708
GRCh38:
Chr12:57750925
CDK4V174MHereditary cancer-predisposing syndrome, Cutaneous malignant melanoma 3, Hereditary melanoma,
not provided
Uncertain significance
(May 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000184906
76.
GRCh37:
Chr12:58144709
GRCh38:
Chr12:57750926
CDK4Hereditary melanoma, not specified, Hereditary cancer-predisposing syndrome
Likely benign
(Sep 19, 2020)
criteria provided, multiple submitters, no conflictsVCV000229722
77.
GRCh37:
Chr12:58144711
GRCh38:
Chr12:57750928
CDK4P173THereditary cancer-predisposing syndromeUncertain significance
(Aug 16, 2017)
criteria provided, single submitterVCV000485497
78.
GRCh37:
Chr12:58144715
GRCh38:
Chr12:57750932
CDK4Hereditary melanoma, not provided, Hereditary cancer-predisposing syndrome
Likely benign
(Oct 9, 2018)
criteria provided, multiple submitters, no conflictsVCV000792593
79.
GRCh37:
Chr12:58144724
GRCh38:
Chr12:57750941
CDK4Cutaneous malignant melanoma 3, Hereditary melanomaLikely benign
(Oct 26, 2020)
criteria provided, multiple submitters, no conflictsVCV000463470
80.
GRCh37:
Chr12:58144724
GRCh38:
Chr12:57750941
CDK4Q168HHereditary melanoma, Hereditary cancer-predisposing syndromeUncertain significance
(Oct 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000408337
81.
GRCh37:
Chr12:58144726
GRCh38:
Chr12:57750943
CDK4Q168*Hereditary cancer-predisposing syndromeUncertain significance
(Aug 5, 2016)
criteria provided, single submitterVCV000485488
82.
GRCh37:
Chr12:58144727
GRCh38:
Chr12:57750944
CDK4Hereditary cancer-predisposing syndrome, Hereditary melanomaLikely benign
(Dec 7, 2020)
criteria provided, multiple submitters, no conflictsVCV000463469
83.
GRCh37:
Chr12:58144731
GRCh38:
Chr12:57750948
CDK4S166THereditary cancer-predisposing syndrome, Hereditary melanomaUncertain significance
(Sep 1, 2020)
criteria provided, multiple submitters, no conflictsVCV000233634
84.
GRCh37:
Chr12:58144732
GRCh38:
Chr12:57750949
CDK4S166Gnot providedUncertain significance
(Sep 24, 2019)
criteria provided, single submitterVCV001308823
85.
GRCh37:
Chr12:58144734
GRCh38:
Chr12:57750951
CDK4Y165CHereditary melanomaUncertain significance
(Jan 6, 2020)
criteria provided, single submitterVCV001014782
86.
GRCh37:
Chr12:58144737
GRCh38:
Chr12:57750954
CDK4I164THereditary melanoma, Hereditary cancer-predisposing syndromeUncertain significance
(Sep 20, 2020)
criteria provided, multiple submitters, no conflictsVCV000825290
87.
GRCh37:
Chr12:58144739
GRCh38:
Chr12:57750956
CDK4R163SHereditary cancer-predisposing syndromeUncertain significance
(Feb 2, 2015)
criteria provided, single submitterVCV000230246
88.
GRCh37:
Chr12:58144740-58144741
GRCh38:
Chr12:57750957-57750958
CDK4R163AHereditary melanomaUncertain significance
(May 27, 2019)
criteria provided, single submitterVCV000939980
89.
GRCh37:
Chr12:58144742
GRCh38:
Chr12:57750959
CDK4Hereditary cancer-predisposing syndrome, Hereditary melanomaLikely benign
(Mar 18, 2020)
criteria provided, multiple submitters, no conflictsVCV000825243
90.
GRCh37:
Chr12:58144743
GRCh38:
Chr12:57750960
CDK4A162DHereditary melanomaUncertain significance
(Apr 15, 2018)
criteria provided, single submitterVCV000578222
91.
GRCh37:
Chr12:58144744
GRCh38:
Chr12:57750961
CDK4A162SHereditary cancer-predisposing syndromeUncertain significance
(Jul 25, 2019)
criteria provided, single submitterVCV000825229
92.
GRCh37:
Chr12:58144744
GRCh38:
Chr12:57750961
CDK4A162PHereditary melanomaUncertain significance
(Mar 29, 2019)
criteria provided, single submitterVCV000463467
93.
GRCh37:
Chr12:58144747
GRCh38:
Chr12:57750964
CDK4not specified, Hereditary melanoma, Hereditary cancer-predisposing syndrome
Likely benign
(Oct 28, 2020)
criteria provided, multiple submitters, no conflictsVCV000483284
94.
GRCh37:
Chr12:58144749
GRCh38:
Chr12:57750966
CDK4G160Dnot providedUncertain significance
(Apr 14, 2021)
criteria provided, single submitterVCV001314881
95.
GRCh37:
Chr12:58144751
GRCh38:
Chr12:57750968
CDK4F159fsHereditary melanoma, Hereditary cancer-predisposing syndromeUncertain significance
(Jun 20, 2019)
criteria provided, multiple submitters, no conflictsVCV000186526
96.
GRCh37:
Chr12:58144763
GRCh38:
Chr12:57750980
CDK4Hereditary melanomaLikely benign
(Jul 27, 2019)
criteria provided, single submitterVCV001093173
97.
GRCh37:
Chr12:58144766
GRCh38:
Chr12:57750983
CDK4not provided, Hereditary melanomaLikely benign
(Dec 31, 2018)
criteria provided, single submitterVCV000799229
98.
GRCh37:
Chr12:58144767
GRCh38:
Chr12:57750984
CDK4V154AHereditary cancer-predisposing syndrome, Hereditary melanomaUncertain significance
(Apr 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000485490
99.
GRCh37:
Chr12:58144768
GRCh38:
Chr12:57750985
CDK4V154Lnot provided, Hereditary melanoma, Hereditary cancer-predisposing syndrome
Uncertain significance
(Nov 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000216270
100.
GRCh37:
Chr12:58144769
GRCh38:
Chr12:57750986
CDK4Hereditary cancer-predisposing syndromeLikely benign
(Jul 7, 2019)
criteria provided, single submitterVCV000825029
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