U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 1196

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:44107291
GRCh38:
Chr17:46029925
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr17:44107321-44107322
GRCh38:
Chr17:46029955-46029956
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr17:44107487-44107488
GRCh38:
Chr17:46030121-46030122
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr17:44107606-44107607
GRCh38:
Chr17:46030240-46030241
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr17:44107738-44107739
GRCh38:
Chr17:46030372-46030373
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr17:44107888
GRCh38:
Chr17:46030522
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr17:44108807-44108810
GRCh38:
Chr17:46031441-46031444
KANSL1Syndromic intellectual disabilityUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr17:44108822-44159928
GRCh38:
Chr17:46031456-46082562
KANSL1Koolen-de Vries syndromePathogenic
(Mar 13, 2019)
criteria provided, single submitter
9.
GRCh37:
Chr17:44108822-44128090
GRCh38:
Chr17:46031456-46050724
KANSL1Koolen-de Vries syndromeUncertain significance
(Jan 21, 2020)
criteria provided, single submitter
10.
GRCh37:
Chr17:44108825
GRCh38:
Chr17:46031459
KANSL1not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr17:44108839
GRCh38:
Chr17:46031473
KANSL1not providedLikely benign
(Oct 31, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr17:44108840
GRCh38:
Chr17:46031474
KANSL1not specifiedLikely benign
(Dec 2, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr17:44108847
GRCh38:
Chr17:46031481
KANSL1R1026G, R1041G, R1042G, R1061G, R1070G, R1071G, R1104G, R1105G, R619G, R620G, R682G, R683GKoolen-de Vries syndromeUncertain significance
(Jan 10, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr17:44108847-44108848
GRCh38:
Chr17:46031481-46031482
KANSL1H1103fs, H1104fsnot provided, Koolen-de Vries syndromeUncertain significance
(Jan 7, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr17:44108848
GRCh38:
Chr17:46031482
KANSL1H1041Q, H1025Q, H1070Q, H619Q, H682Q, H1040Q, H1069Q, H1103Q, H681Q, H1060Q, H1104Q, H618QInborn genetic diseases, Koolen-de Vries syndromeUncertain significance
(May 28, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr17:44108854
GRCh38:
Chr17:46031488
KANSL1not specified, Koolen-de Vries syndromeBenign/Likely benign
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr17:44108855
GRCh38:
Chr17:46031489
KANSL1P1102L, P1101LKoolen-de Vries syndrome, not specifiedConflicting interpretations of pathogenicity
(Jun 4, 2022)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr17:44108858
GRCh38:
Chr17:46031492
KANSL1R1022H, R1037H, R1038H, R1067H, R1066H, R615H, R616H, R679H, R1057H, R1100H, R1101H, R678HKoolen-de Vries syndromeUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr17:44108860
GRCh38:
Chr17:46031494
KANSL1Koolen-de Vries syndromeLikely benign
(Dec 19, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr17:44108862
GRCh38:
Chr17:46031496
KANSL1Q1100E, Q1099Enot provided, Koolen-de Vries syndromeUncertain significance
(Sep 2, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr17:44108866
GRCh38:
Chr17:46031500
KANSL1Koolen-de Vries syndromeLikely benign
(Feb 24, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr17:44108868
GRCh38:
Chr17:46031502
KANSL1T1097A, T1098AKoolen-de Vries syndromeBenign
(Oct 13, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr17:44108871
GRCh38:
Chr17:46031505
KANSL1A1097P, A1096PKoolen-de Vries syndromeBenign
(Feb 8, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr17:44108873
GRCh38:
Chr17:46031507
KANSL1A1032G, A1096G, A1033G, A1095G, A673G, A674G, A1017G, A1061G, A610G, A1052G, A1062G, A611GKoolen-de Vries syndromeUncertain significance
(Jul 25, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr17:44108873
GRCh38:
Chr17:46031507
KANSL1A1017V, A1032V, A1033V, A1052V, A1061V, A1062V, A1095V, A1096V, A610V, A611V, A673V, A674VKoolen-de Vries syndromeUncertain significance
(Oct 21, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr17:44108881
GRCh38:
Chr17:46031515
KANSL1Koolen-de Vries syndromeLikely benign
(Nov 11, 2020)
criteria provided, single submitter
27.
GRCh37:
Chr17:44108881
GRCh38:
Chr17:46031515
KANSL1Koolen-de Vries syndromeLikely benign
(Oct 12, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr17:44108885
GRCh38:
Chr17:46031519
KANSL1H1091R, H1092RKoolen-de Vries syndromeBenign
(Aug 16, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr17:44108888
GRCh38:
Chr17:46031522
KANSL1R1091Q, R1090QKoolen-de Vries syndromeUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr17:44108894
GRCh38:
Chr17:46031528
KANSL1K1089R, K1088RKoolen-de Vries syndromeLikely benign
(May 5, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr17:44108896
GRCh38:
Chr17:46031530
KANSL1not provided, Koolen-de Vries syndromeLikely benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr17:44108900
GRCh38:
Chr17:46031534
KANSL1P1087L, P1086LKoolen-de Vries syndrome, not providedConflicting interpretations of pathogenicity
(Jul 19, 2022)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr17:44108902
GRCh38:
Chr17:46031536
KANSL1Koolen-de Vries syndromeLikely benign
(Sep 1, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr17:44108914
GRCh38:
Chr17:46031548
KANSL1Koolen-de Vries syndromeLikely benign
(Aug 10, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr17:44108915
GRCh38:
Chr17:46031549
KANSL1S1082L, S1081LKoolen-de Vries syndromeBenign
(Jul 19, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr17:44108918
GRCh38:
Chr17:46031552
KANSL1T1081S, T1080SKoolen-de Vries syndromeUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr17:44108922
GRCh38:
Chr17:46031556
KANSL1P1079S, P1080SKoolen-de Vries syndromeUncertain significance
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr17:44108923
GRCh38:
Chr17:46031557
KANSL1Koolen-de Vries syndromeLikely benign
(Aug 5, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr17:44108923
GRCh38:
Chr17:46031557
KANSL1Koolen-de Vries syndromeLikely benign
(Oct 29, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr17:44108924
GRCh38:
Chr17:46031558
KANSL1A1079V, A1078VInborn genetic diseases, not specified, Koolen-de Vries syndrome
Conflicting interpretations of pathogenicity
(Feb 22, 2023)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr17:44108925
GRCh38:
Chr17:46031559
KANSL1A1078T, A1079TKoolen-de Vries syndromeLikely benign
(Feb 2, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr17:44108930
GRCh38:
Chr17:46031564
KANSL1E1076V, E1077VKoolen-de Vries syndromeUncertain significance
(Mar 29, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr17:44108939
GRCh38:
Chr17:46031573
KANSL1R1074Q, R1073Qnot specified, Koolen-de Vries syndromeConflicting interpretations of pathogenicity
(Aug 6, 2022)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr17:44108945
GRCh38:
Chr17:46031579
KANSL1T1072I, T1071Inot specifiedLikely benign
(Oct 28, 2015)
criteria provided, single submitter
45.
GRCh37:
Chr17:44108964
GRCh38:
Chr17:46031598
KANSL1R1066C, R1065CKoolen-de Vries syndrome, not specifiedConflicting interpretations of pathogenicity
(Mar 19, 2022)
criteria provided, conflicting interpretations
46.
GRCh37:
Chr17:44108967
GRCh38:
Chr17:46031601
KANSL1R1065G, R1064GKoolen-de Vries syndromeUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr17:44108967
GRCh38:
Chr17:46031601
KANSL1R1064*, R1065*not provided, Koolen-de Vries syndromeConflicting interpretations of pathogenicity
(Oct 20, 2021)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr17:44108975
GRCh38:
Chr17:46031609
KANSL1R1062H, R1061Hnot specified, Koolen-de Vries syndromeLikely benign
(Aug 11, 2021)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr17:44108976
GRCh38:
Chr17:46031610
KANSL1R1061C, R1062CKoolen-de Vries syndromeUncertain significance
(Mar 15, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr17:44108985
GRCh38:
Chr17:46031619
KANSL1R1058G, R1059GKoolen-de Vries syndromeUncertain significance
(Oct 3, 2019)
criteria provided, single submitter
51.
GRCh37:
Chr17:44108990
GRCh38:
Chr17:46031624
KANSL1Q1057R, Q1056Rnot provided, Koolen-de Vries syndromeBenign/Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr17:44108993
GRCh38:
Chr17:46031627
KANSL1A1055V, A1056VKoolen-de Vries syndromeUncertain significance
(Sep 9, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr17:44108996
GRCh38:
Chr17:46031630
KANSL1D1021G, D1055G, D570G, D632G, D991G, D1020G, D569G, D1011G, D1054G, D633G, D976G, D992GKoolen-de Vries syndromeUncertain significance
(May 13, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr17:44108998
GRCh38:
Chr17:46031632
KANSL1Koolen-de Vries syndromeLikely benign
(Oct 7, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr17:44109002
GRCh38:
Chr17:46031636
KANSL1Q1053R, Q1052Rnot specifiedLikely benign
(Oct 19, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr17:44109005
GRCh38:
Chr17:46031639
KANSL1D1018V, D1052V, D566V, D567V, D973V, D989V, D988V, D1008V, D629V, D1017V, D1051V, D630VKoolen-de Vries syndromeUncertain significance
(Apr 28, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr17:44109006
GRCh38:
Chr17:46031640
KANSL1D1051N, D1052NKoolen-de Vries syndromeUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr17:44109012
GRCh38:
Chr17:46031646
KANSL1C1050R, C1049Rnot specifiedLikely benign
(Oct 13, 2014)
criteria provided, single submitter
59.
GRCh37:
Chr17:44109014
GRCh38:
Chr17:46031648
KANSL1E1048V, E1049VKoolen-de Vries syndromeLikely benign
(Sep 27, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr17:44109014
GRCh38:
Chr17:46031648
KANSL1E1049G, E1048GKoolen-de Vries syndrome, Inborn genetic diseases, not provided
Conflicting interpretations of pathogenicity
(Nov 7, 2022)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr17:44109016
GRCh38:
Chr17:46031650
KANSL1Koolen-de Vries syndromeLikely benign
(Aug 22, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr17:44109016
GRCh38:
Chr17:46031650
KANSL1Koolen-de Vries syndromeLikely benign
(Oct 15, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr17:44109017
GRCh38:
Chr17:46031651
KANSL1A1047V, A1048VKoolen-de Vries syndromeUncertain significance
(Sep 20, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr17:44109019
GRCh38:
Chr17:46031653
KANSL1Q1047H, Q1046Hnot specifiedLikely benign
(Nov 22, 2013)
criteria provided, single submitter
65.
GRCh37:
Chr17:44109021
GRCh38:
Chr17:46031655
KANSL1Q1046E, Q1047EKoolen-de Vries syndromeUncertain significance
(Sep 14, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr17:44109022
GRCh38:
Chr17:46031656
KANSL1not specified, Koolen-de Vries syndromeLikely benign
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr17:44109031
GRCh38:
Chr17:46031665
KANSL1Koolen-de Vries syndromeLikely benign
(Jul 5, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr17:44109032
GRCh38:
Chr17:46031666
KANSL1A1043V, A1042VKoolen-de Vries syndromeUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr17:44109035
GRCh38:
Chr17:46031669
KANSL1L1041fs, L1042fsKoolen-de Vries syndromeLikely pathogenic
(Apr 25, 2014)
criteria provided, single submitter
70.
GRCh37:
Chr17:44109037
GRCh38:
Chr17:46031671
KANSL1not provided, Koolen-de Vries syndromeLikely benign
(Jun 19, 2021)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr17:44109044
GRCh38:
Chr17:46031678
KANSL1T1039I, T1038IKoolen-de Vries syndromeLikely benign
(Aug 23, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr17:44109050
GRCh38:
Chr17:46031684
KANSL1R1037Q, R1036QKoolen-de Vries syndromeLikely benign
(Mar 6, 2020)
criteria provided, single submitter
73.
GRCh37:
Chr17:44109055
GRCh38:
Chr17:46031689
KANSL1W1035C, W1034CKoolen-de Vries syndromeUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr17:44109066
GRCh38:
Chr17:46031700
KANSL1V1031L, V1032LKoolen-de Vries syndromeLikely benign
(Sep 6, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr17:44109066
GRCh38:
Chr17:46031700
KANSL1V1032F, V1031Fnot specifiedLikely benign
(Jan 3, 2017)
criteria provided, single submitter
76.
GRCh37:
Chr17:44109070-44109071
GRCh38:
Chr17:46031704-46031705
KANSL1not providedLikely benign
(Apr 6, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr17:44109072
GRCh38:
Chr17:46031706
KANSL1Koolen-de Vries syndromeUncertain significance
(Feb 4, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr17:44109076
GRCh38:
Chr17:46031710
KANSL1Koolen-de Vries syndromeLikely benign
(May 1, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr17:44109079
GRCh38:
Chr17:46031713
KANSL1Koolen-de Vries syndromeLikely benign
(Aug 2, 2020)
criteria provided, single submitter
80.
GRCh37:
Chr17:44109087
GRCh38:
Chr17:46031721
KANSL1not specified, Koolen-de Vries syndromeBenign
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr17:44109104
GRCh38:
Chr17:46031738
KANSL1not providedBenign
(Jun 24, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr17:44109188
GRCh38:
Chr17:46031822
KANSL1not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr17:44109236
GRCh38:
Chr17:46031870
KANSL1not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr17:44109248
GRCh38:
Chr17:46031882
KANSL1not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr17:44109370
GRCh38:
Chr17:46032004
KANSL1not providedLikely benign
(Sep 7, 2020)
criteria provided, single submitter
86.
GRCh37:
Chr17:44109403
GRCh38:
Chr17:46032037
KANSL1Koolen-de Vries syndromeLikely benign
(Aug 6, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr17:44109404
GRCh38:
Chr17:46032038
KANSL1Koolen-de Vries syndromeLikely benign
(Nov 30, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr17:44109421
GRCh38:
Chr17:46032055
KANSL1D1028H, D1027HKoolen-de Vries syndrome, not specifiedConflicting interpretations of pathogenicity
(Jul 16, 2022)
criteria provided, conflicting interpretations
89.
GRCh37:
Chr17:44109424
GRCh38:
Chr17:46032058
KANSL1L1026M, L1027MKoolen-de Vries syndromeUncertain significance
(Mar 2, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr17:44109435
GRCh38:
Chr17:46032069
KANSL1P538L, P600L, P959L, P988L, P537L, P979L, P1023L, P944L, P989L, P1022L, P601L, P960LKoolen-de Vries syndromeLikely benign
(Aug 23, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr17:44109439
GRCh38:
Chr17:46032073
KANSL1T1021A, T1022AKoolen-de Vries syndromeBenign
(Mar 3, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr17:44109446
GRCh38:
Chr17:46032080
KANSL1Koolen-de Vries syndromeLikely benign
(Dec 25, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr17:44109447
GRCh38:
Chr17:46032081
KANSL1R1019H, R1018Hnot provided, Koolen-de Vries syndromeConflicting interpretations of pathogenicity
(Jun 14, 2022)
criteria provided, conflicting interpretations
94.
GRCh37:
Chr17:44109449
GRCh38:
Chr17:46032083
KANSL1Koolen-de Vries syndromeLikely benign
(Aug 27, 2020)
criteria provided, single submitter
95.
GRCh37:
Chr17:44109450
GRCh38:
Chr17:46032084
KANSL1T1017N, T1018Nnot specified, Koolen-de Vries syndromeUncertain significance
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr17:44109450
GRCh38:
Chr17:46032084
KANSL1T1018I, T1017IInborn genetic diseases, not specified, Koolen-de Vries syndrome
Benign/Likely benign
(Oct 8, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr17:44109453-44109454
GRCh38:
Chr17:46032087-46032088
KANSL1D1016fs, D1017fsKoolen-de Vries syndromePathogenic
(Jun 16, 2020)
criteria provided, single submitter
98.
GRCh37:
Chr17:44109453
GRCh38:
Chr17:46032087
KANSL1D1017A, D1016AKoolen-de Vries syndromeUncertain significance
(Mar 30, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr17:44109460
GRCh38:
Chr17:46032094
KANSL1S1015G, S592G, S936G, S530G, S952G, S529G, S593G, S971G, S980G, S981G, S1014G, S951GKoolen-de Vries syndromeUncertain significance
(Oct 19, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr17:44109465
GRCh38:
Chr17:46032099
KANSL1L1013S, L1012Snot provided, Koolen-de Vries syndromeConflicting interpretations of pathogenicity
(May 25, 2022)
criteria provided, conflicting interpretations
Format
Items per page
Sort by
Choose Destination