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Items: 1 to 100 of 886

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr17:44107291
GRCh38:
Chr17:46029925
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000323730
2.
GRCh37:
Chr17:44107321-44107322
GRCh38:
Chr17:46029955-46029956
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000323731
3.
GRCh37:
Chr17:44107487-44107488
GRCh38:
Chr17:46030121-46030122
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000323735
4.
GRCh37:
Chr17:44107606-44107607
GRCh38:
Chr17:46030240-46030241
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000323742
5.
GRCh37:
Chr17:44107738-44107739
GRCh38:
Chr17:46030372-46030373
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000323744
6.
GRCh37:
Chr17:44107888
GRCh38:
Chr17:46030522
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000323748
7.
GRCh37:
Chr17:44108807-44108810
GRCh38:
Chr17:46031441-46031444
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000323761
8.
GRCh37:
Chr17:44108822-44159928
GRCh38:
Chr17:46031456-46082562
KANSL1Koolen-de Vries syndromePathogenic
(Mar 13, 2019)
criteria provided, single submitterVCV000584056
9.
GRCh37:
Chr17:44108822-44128090
GRCh38:
Chr17:46031456-46050724
KANSL1Koolen-de Vries syndromeUncertain significance
(Jul 3, 2019)
criteria provided, single submitterVCV000583790
10.
GRCh37:
Chr17:44108825
GRCh38:
Chr17:46031459
KANSL1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001257473
11.
GRCh37:
Chr17:44108839
GRCh38:
Chr17:46031473
KANSL1not providedLikely benign
(Oct 31, 2018)
criteria provided, single submitterVCV000381968
12.
GRCh37:
Chr17:44108840
GRCh38:
Chr17:46031474
KANSL1not specifiedLikely benign
(Dec 2, 2016)
criteria provided, single submitterVCV000391464
13.
GRCh37:
Chr17:44108847-44108848
GRCh38:
Chr17:46031481-46031482
KANSL1H1103fs, H1104fsnot providedUncertain significance
(Jun 3, 2019)
criteria provided, single submitterVCV000424157
14.
GRCh37:
Chr17:44108854
GRCh38:
Chr17:46031488
KANSL1Koolen-de Vries syndrome, not specifiedBenign/Likely benign
(Nov 26, 2020)
criteria provided, multiple submitters, no conflictsVCV000377995
15.
GRCh37:
Chr17:44108855
GRCh38:
Chr17:46031489
KANSL1P1102L, P1101Lnot specifiedLikely benign
(Aug 24, 2016)
criteria provided, single submitterVCV000388823
16.
GRCh37:
Chr17:44108862
GRCh38:
Chr17:46031496
KANSL1Q1100E, Q1099Enot providedUncertain significance
(Jul 28, 2014)
criteria provided, single submitterVCV000205801
17.
GRCh37:
Chr17:44108866
GRCh38:
Chr17:46031500
KANSL1Koolen-de Vries syndromeLikely benign
(Jan 18, 2020)
criteria provided, single submitterVCV001084310
18.
GRCh37:
Chr17:44108871
GRCh38:
Chr17:46031505
KANSL1A1097P, A1096PKoolen-de Vries syndromeUncertain significance
(Oct 17, 2019)
criteria provided, single submitterVCV000972304
19.
GRCh37:
Chr17:44108881
GRCh38:
Chr17:46031515
KANSL1Koolen-de Vries syndromeLikely benign
(Dec 22, 2017)
criteria provided, single submitterVCV000536309
20.
GRCh37:
Chr17:44108885
GRCh38:
Chr17:46031519
KANSL1H1091R, H1092RKoolen-de Vries syndromeUncertain significance
(Nov 21, 2019)
criteria provided, single submitterVCV000853987
21.
GRCh37:
Chr17:44108888
GRCh38:
Chr17:46031522
KANSL1R1091Q, R1090QKoolen-de Vries syndromeUncertain significance
(Dec 8, 2017)
criteria provided, single submitterVCV000536293
22.
GRCh37:
Chr17:44108894
GRCh38:
Chr17:46031528
KANSL1K1089R, K1088Rnot providedLikely benign
(Aug 20, 2018)
criteria provided, single submitterVCV000567755
23.
GRCh37:
Chr17:44108896
GRCh38:
Chr17:46031530
KANSL1Koolen-de Vries syndrome, not providedLikely benign
(Nov 11, 2020)
criteria provided, multiple submitters, no conflictsVCV000377994
24.
GRCh37:
Chr17:44108900
GRCh38:
Chr17:46031534
KANSL1P1087L, P1086Lnot providedLikely benign
(Oct 17, 2018)
criteria provided, single submitterVCV000387239
25.
GRCh37:
Chr17:44108902
GRCh38:
Chr17:46031536
KANSL1Koolen-de Vries syndromeLikely benign
(Jan 27, 2019)
criteria provided, single submitterVCV001085828
26.
GRCh37:
Chr17:44108915
GRCh38:
Chr17:46031549
KANSL1S1082L, S1081LKoolen-de Vries syndromeUncertain significance
(Sep 7, 2018)
criteria provided, single submitterVCV000659790
27.
GRCh37:
Chr17:44108924
GRCh38:
Chr17:46031558
KANSL1A1079V, A1078Vnot specified, Koolen-de Vries syndromeBenign/Likely benign
(Jul 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000388914
28.
GRCh37:
Chr17:44108939
GRCh38:
Chr17:46031573
KANSL1R1074Q, R1073Qnot specified, Koolen-de Vries syndromeConflicting interpretations of pathogenicity
(Jun 22, 2020)
criteria provided, conflicting interpretationsVCV000515272
29.
GRCh37:
Chr17:44108945
GRCh38:
Chr17:46031579
KANSL1T1072I, T1071Inot specifiedLikely benign
(Oct 28, 2015)
criteria provided, single submitterVCV000381249
30.
GRCh37:
Chr17:44108964
GRCh38:
Chr17:46031598
KANSL1R1066C, R1065Cnot specified, Koolen-de Vries syndromeConflicting interpretations of pathogenicity
(Sep 29, 2020)
criteria provided, conflicting interpretationsVCV000514637
31.
GRCh37:
Chr17:44108967
GRCh38:
Chr17:46031601
KANSL1R1064*, R1065*not providedUncertain significance
(Oct 22, 2019)
criteria provided, single submitterVCV001204543
32.
GRCh37:
Chr17:44108975
GRCh38:
Chr17:46031609
KANSL1R1062H, R1061HKoolen-de Vries syndrome, not specifiedLikely benign
(Aug 31, 2020)
criteria provided, multiple submitters, no conflictsVCV000379614
33.
GRCh37:
Chr17:44108976
GRCh38:
Chr17:46031610
KANSL1R1061C, R1062CKoolen-de Vries syndromeUncertain significance
(Dec 23, 2019)
criteria provided, single submitterVCV000856640
34.
GRCh37:
Chr17:44108985
GRCh38:
Chr17:46031619
KANSL1R1058G, R1059GKoolen-de Vries syndromeUncertain significance
(Oct 3, 2019)
criteria provided, single submitterVCV000971163
35.
GRCh37:
Chr17:44108990
GRCh38:
Chr17:46031624
KANSL1Q1057R, Q1056RKoolen-de Vries syndrome, not providedBenign/Likely benign
(Nov 13, 2020)
criteria provided, multiple submitters, no conflictsVCV000205756
36.
GRCh37:
Chr17:44109002
GRCh38:
Chr17:46031636
KANSL1Q1053R, Q1052Rnot specifiedLikely benign
(Oct 19, 2016)
criteria provided, single submitterVCV000390120
37.
GRCh37:
Chr17:44109006
GRCh38:
Chr17:46031640
KANSL1D1051N, D1052NKoolen-de Vries syndromeUncertain significance
(Oct 23, 2018)
criteria provided, single submitterVCV000652051
38.
GRCh37:
Chr17:44109012
GRCh38:
Chr17:46031646
KANSL1C1050R, C1049Rnot specifiedLikely benign
(Oct 13, 2014)
criteria provided, single submitterVCV000205755
39.
GRCh37:
Chr17:44109014
GRCh38:
Chr17:46031648
KANSL1E1049G, E1048Gnot provided, Koolen-de Vries syndromeBenign/Likely benign
(Oct 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000205754
40.
GRCh37:
Chr17:44109017
GRCh38:
Chr17:46031651
KANSL1A1047V, A1048VKoolen-de Vries syndromeUncertain significance
(Aug 22, 2018)
criteria provided, single submitterVCV000646139
41.
GRCh37:
Chr17:44109019
GRCh38:
Chr17:46031653
KANSL1Q1047H, Q1046Hnot specifiedLikely benign
(Nov 22, 2013)
criteria provided, single submitterVCV000205753
42.
GRCh37:
Chr17:44109021
GRCh38:
Chr17:46031655
KANSL1Q1046E, Q1047EKoolen-de Vries syndromeUncertain significance
(Jul 7, 2020)
criteria provided, single submitterVCV001058220
43.
GRCh37:
Chr17:44109022
GRCh38:
Chr17:46031656
KANSL1not specifiedLikely benign
(May 26, 2016)
criteria provided, single submitterVCV000386436
44.
GRCh37:
Chr17:44109031
GRCh38:
Chr17:46031665
KANSL1Koolen-de Vries syndromeLikely benign
(Mar 6, 2020)
criteria provided, single submitterVCV001098939
45.
GRCh37:
Chr17:44109032
GRCh38:
Chr17:46031666
KANSL1A1043V, A1042VKoolen-de Vries syndromeUncertain significance
(Aug 3, 2018)
criteria provided, single submitterVCV000665482
46.
GRCh37:
Chr17:44109035
GRCh38:
Chr17:46031669
KANSL1L1041fs, L1042fsKoolen-de Vries syndromeLikely pathogenic
(Apr 25, 2014)
criteria provided, single submitterVCV000209164
47.
GRCh37:
Chr17:44109037
GRCh38:
Chr17:46031671
KANSL1Koolen-de Vries syndrome, not providedLikely benign
(Apr 13, 2021)
criteria provided, multiple submitters, no conflictsVCV000512496
48.
GRCh37:
Chr17:44109044
GRCh38:
Chr17:46031678
KANSL1T1039I, T1038IKoolen-de Vries syndromeUncertain significance
(Dec 13, 2019)
criteria provided, single submitterVCV000468407
49.
GRCh37:
Chr17:44109050
GRCh38:
Chr17:46031684
KANSL1R1037Q, R1036QKoolen-de Vries syndromeLikely benign
(Mar 6, 2020)
criteria provided, single submitterVCV000833837
50.
GRCh37:
Chr17:44109066
GRCh38:
Chr17:46031700
KANSL1V1031L, V1032LKoolen-de Vries syndromeLikely benign
(Oct 3, 2020)
criteria provided, single submitterVCV000850997
51.
GRCh37:
Chr17:44109066
GRCh38:
Chr17:46031700
KANSL1V1032F, V1031Fnot specifiedLikely benign
(Jan 3, 2017)
criteria provided, single submitterVCV000392437
52.
GRCh37:
Chr17:44109070-44109071
GRCh38:
Chr17:46031704-46031705
KANSL1not providedLikely benign
(Apr 6, 2018)
criteria provided, single submitterVCV000681522
53.
GRCh37:
Chr17:44109072
GRCh38:
Chr17:46031706
KANSL1Koolen-de Vries syndromeUncertain significance
(Oct 1, 2018)
criteria provided, single submitterVCV000536304
54.
GRCh37:
Chr17:44109079
GRCh38:
Chr17:46031713
KANSL1Koolen-de Vries syndrome, not providedLikely benign
(Aug 2, 2020)
criteria provided, single submitterVCV000699054
55.
GRCh37:
Chr17:44109087
GRCh38:
Chr17:46031721
KANSL1not specifiedBenign
(Feb 11, 2014)
criteria provided, single submitterVCV000137972
56.
GRCh37:
Chr17:44109104
GRCh38:
Chr17:46031738
KANSL1not providedBenign
(Jun 24, 2021)
criteria provided, single submitterVCV001294359
57.
GRCh37:
Chr17:44109188
GRCh38:
Chr17:46031822
KANSL1not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000675101
58.
GRCh37:
Chr17:44109236
GRCh38:
Chr17:46031870
KANSL1not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001179675
59.
GRCh37:
Chr17:44109248
GRCh38:
Chr17:46031882
KANSL1not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000670433
60.
GRCh37:
Chr17:44109370
GRCh38:
Chr17:46032004
KANSL1not providedLikely benign
(Sep 7, 2020)
criteria provided, single submitterVCV001211568
61.
GRCh37:
Chr17:44109403
GRCh38:
Chr17:46032037
KANSL1Koolen-de Vries syndromeLikely benign
(Apr 14, 2020)
criteria provided, single submitterVCV001095932
62.
GRCh37:
Chr17:44109421
GRCh38:
Chr17:46032055
KANSL1D1028H, D1027Hnot specifiedLikely benign
(Jan 17, 2015)
criteria provided, single submitterVCV000205752
63.
GRCh37:
Chr17:44109446
GRCh38:
Chr17:46032080
KANSL1not provided, Koolen-de Vries syndromeLikely benign
(Jan 5, 2019)
criteria provided, single submitterVCV000797403
64.
GRCh37:
Chr17:44109447
GRCh38:
Chr17:46032081
KANSL1R1019H, R1018Hnot provided, Koolen-de Vries syndromeConflicting interpretations of pathogenicity
(Mar 3, 2020)
criteria provided, conflicting interpretationsVCV000205800
65.
GRCh37:
Chr17:44109449
GRCh38:
Chr17:46032083
KANSL1Koolen-de Vries syndromeLikely benign
(Aug 27, 2020)
criteria provided, single submitterVCV001147136
66.
GRCh37:
Chr17:44109450
GRCh38:
Chr17:46032084
KANSL1T1017N, T1018NKoolen-de Vries syndromeUncertain significance
(Dec 22, 2018)
criteria provided, single submitterVCV000643495
67.
GRCh37:
Chr17:44109450
GRCh38:
Chr17:46032084
KANSL1T1018I, T1017Inot specified, Koolen-de Vries syndromeConflicting interpretations of pathogenicity
(Jun 1, 2020)
criteria provided, conflicting interpretationsVCV000392273
68.
GRCh37:
Chr17:44109453-44109454
GRCh38:
Chr17:46032087-46032088
KANSL1D1016fs, D1017fsKoolen-de Vries syndromePathogenic
(Jun 16, 2020)
criteria provided, single submitterVCV000981161
69.
GRCh37:
Chr17:44109453
GRCh38:
Chr17:46032087
KANSL1D1017A, D1016AKoolen-de Vries syndromeUncertain significance
(Dec 4, 2017)
criteria provided, single submitterVCV000626123
70.
GRCh37:
Chr17:44109465
GRCh38:
Chr17:46032099
KANSL1L1013S, L1012Snot provided, Koolen-de Vries syndromeConflicting interpretations of pathogenicity
(Aug 19, 2020)
criteria provided, conflicting interpretationsVCV000382192
71.
GRCh37:
Chr17:44109468
GRCh38:
Chr17:46032102
KANSL1H1012R, H1011Rnot specifiedLikely benign
(Jun 30, 2016)
criteria provided, single submitterVCV000387227
72.
GRCh37:
Chr17:44109472
GRCh38:
Chr17:46032106
KANSL1R1010*, R1011*Koolen-de Vries syndromePathogenic
(Aug 15, 2019)
criteria provided, single submitterVCV000949673
73.
GRCh37:
Chr17:44109472
GRCh38:
Chr17:46032106
KANSL1not providedLikely benign
(Dec 3, 2019)
criteria provided, single submitterVCV000511537
74.
GRCh37:
Chr17:44109473
GRCh38:
Chr17:46032107
KANSL1not specified, Koolen-de Vries syndromeLikely benign
(Oct 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000387872
75.
GRCh37:
Chr17:44109478
GRCh38:
Chr17:46032112
KANSL1T1009P, T1008PKoolen-de Vries syndromeLikely benign
(Aug 31, 2020)
criteria provided, single submitterVCV000950468
76.
GRCh37:
Chr17:44109484
GRCh38:
Chr17:46032118
KANSL1R1007W, R1006Wnot specified, SeizuresLikely benign
(Jun 22, 2016)
criteria provided, single submitterVCV000387002
77.
GRCh37:
Chr17:44109487
GRCh38:
Chr17:46032121
KANSL1A1005S, A1006SKoolen-de Vries syndromeUncertain significance
(May 27, 2020)
criteria provided, single submitterVCV001015535
78.
GRCh37:
Chr17:44109492
GRCh38:
Chr17:46032126
KANSL1P1003fs, P1004fsKoolen-de Vries syndromeUncertain significance
(Oct 25, 2021)
criteria provided, single submitterVCV001321278
79.
GRCh37:
Chr17:44109492
GRCh38:
Chr17:46032126
KANSL1P1003L, P1004LKoolen-de Vries syndromeUncertain significance
(Oct 14, 2020)
criteria provided, single submitterVCV001301589
80.
GRCh37:
Chr17:44109495
GRCh38:
Chr17:46032129
KANSL1T1003I, T1002Inot specifiedLikely benign
(Jun 23, 2016)
criteria provided, single submitterVCV000386880
81.
GRCh37:
Chr17:44109501
GRCh38:
Chr17:46032135
KANSL1P1001L, P1000LKoolen-de Vries syndrome, not providedConflicting interpretations of pathogenicity
(Dec 3, 2019)
criteria provided, conflicting interpretationsVCV000379187
82.
GRCh37:
Chr17:44109509
GRCh38:
Chr17:46032143
KANSL1not specifiedLikely benign
(Jan 22, 2018)
criteria provided, single submitterVCV000514589
83.
GRCh37:
Chr17:44109518
GRCh38:
Chr17:46032152
KANSL1not specifiedLikely benign
(May 11, 2016)
criteria provided, single submitterVCV000385906
84.
GRCh37:
Chr17:44109519
GRCh38:
Chr17:46032153
KANSL1P995L, P994LKoolen-de Vries syndromeLikely benign
(May 19, 2017)
criteria provided, single submitterVCV000468406
85.
GRCh37:
Chr17:44109545
GRCh38:
Chr17:46032179
KANSL1Koolen-de Vries syndrome, not specifiedLikely benign
(Dec 15, 2019)
criteria provided, multiple submitters, no conflictsVCV000506877
86.
GRCh37:
Chr17:44109546-44109547
GRCh38:
Chr17:46032180-46032181
KANSL1G985fs, G986fsnot providedPathogenic
(Feb 1, 2019)
criteria provided, single submitterVCV000818001
87.
GRCh37:
Chr17:44109552
GRCh38:
Chr17:46032186
KANSL1S984Y, S983Ynot specifiedLikely benign
(Jun 10, 2014)
criteria provided, single submitterVCV000205751
88.
GRCh37:
Chr17:44109554
GRCh38:
Chr17:46032188
KANSL1not specified, Koolen-de Vries syndromeBenign
(Dec 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000137971
89.
GRCh37:
Chr17:44109564-44109565
GRCh38:
Chr17:46032198-46032199
KANSL1L979fs, L980fsKoolen-de Vries syndromePathogenic
(Jul 19, 2018)
criteria provided, single submitterVCV000620029
90.
GRCh37:
Chr17:44109590
GRCh38:
Chr17:46032224
KANSL1Koolen-de Vries syndromeLikely benign
(Nov 21, 2020)
criteria provided, single submitterVCV000468404
91.
GRCh37:
Chr17:44109600-44109601
GRCh38:
Chr17:46032234-46032235
KANSL1Q967fs, Q968fsnot providedPathogenic
(Sep 26, 2018)
criteria provided, single submitterVCV000817270
92.
GRCh37:
Chr17:44109601
GRCh38:
Chr17:46032235
KANSL1Q967*, Q968*Koolen-de Vries syndromeLikely pathogenic
(May 6, 2020)
no assertion criteria providedVCV000992993
93.
GRCh37:
Chr17:44109601
GRCh38:
Chr17:46032235
KANSL1Q968fs, Q967fsnot providedLikely pathogenic
(Sep 16, 2018)
no assertion criteria providedVCV000565273
94.
GRCh37:
Chr17:44109606
GRCh38:
Chr17:46032240
KANSL1T966I, T965IKoolen-de Vries syndromeUncertain significance
(Jun 19, 2019)
criteria provided, single submitterVCV000536298
95.
GRCh37:
Chr17:44109610
GRCh38:
Chr17:46032244
KANSL1S965P, S964PKoolen-de Vries syndromeUncertain significance
(May 21, 2018)
criteria provided, single submitterVCV000566736
96.
GRCh37:
Chr17:44109625
GRCh38:
Chr17:46032259
KANSL1G960S, G959Snot specified, Koolen-de Vries syndromeConflicting interpretations of pathogenicity
(May 4, 2020)
criteria provided, conflicting interpretationsVCV000517862
97.
GRCh37:
Chr17:44109647
GRCh38:
Chr17:46032281
KANSL1Koolen-de Vries syndrome, not providedLikely benign
(Sep 5, 2018)
criteria provided, single submitterVCV000722863
98.
GRCh37:
Chr17:44109671
GRCh38:
Chr17:46032305
KANSL1Koolen-de Vries syndromeLikely benign
(Nov 9, 2017)
criteria provided, single submitterVCV000536310
99.
GRCh37:
Chr17:44109673
GRCh38:
Chr17:46032307
KANSL1Koolen-de Vries syndromeLikely benign
(Jul 27, 2019)
criteria provided, single submitterVCV001143058
100.
GRCh37:
Chr17:44109673
GRCh38:
Chr17:46032307
KANSL1Koolen-de Vries syndromeLikely benign
(Sep 25, 2020)
criteria provided, single submitterVCV001093991
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