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Items: 1 to 100 of 203

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:41221382
GRCh38:
Chr15:40929184
DLL4not providedLikely benign
(Oct 21, 2019)
criteria provided, single submitter
2.
GRCh37:
Chr15:41221762
GRCh38:
Chr15:40929564
DLL4not providedLikely benign
(Oct 9, 2020)
criteria provided, single submitter
3.
GRCh37:
Chr15:41221871
GRCh38:
Chr15:40929673
DLL4A2Vnot providedUncertain significance
(Jun 3, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr15:41221878
GRCh38:
Chr15:40929680
DLL4not providedLikely benign
(Mar 22, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr15:41221901
GRCh38:
Chr15:40929703
DLL4A12Vnot providedUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr15:41221905
GRCh38:
Chr15:40929707
DLL4not providedBenign
(Aug 16, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr15:41221921
GRCh38:
Chr15:40929723
DLL4L19Fnot providedUncertain significance
(Sep 17, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr15:41221925
GRCh38:
Chr15:40929727
DLL4W20Lnot providedUncertain significance
(Jun 5, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr15:41221987
GRCh38:
Chr15:40929789
DLL4not providedLikely benign
(Oct 21, 2019)
criteria provided, single submitter
10.
GRCh37:
Chr15:41222025
GRCh38:
Chr15:40929827
DLL4not providedBenign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr15:41222035
GRCh38:
Chr15:40929837
DLL4not providedLikely benign
(Aug 31, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr15:41222046
GRCh38:
Chr15:40929848
DLL4R23Hnot providedLikely benign
(Sep 12, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr15:41222060
GRCh38:
Chr15:40929862
DLL4G28RAdams-Oliver syndrome 6Likely pathogenic
(Dec 18, 2020)
no assertion criteria provided
14.
GRCh37:
Chr15:41222134
GRCh38:
Chr15:40929936
DLL4not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
15.
GRCh37:
Chr15:41222178
GRCh38:
Chr15:40929980
DLL4A67Vnot providedUncertain significance
(Mar 31, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr15:41222182
GRCh38:
Chr15:40929984
DLL4not providedLikely benign
(Aug 13, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr15:41222183
GRCh38:
Chr15:40929985
DLL4V69Fnot provided, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Sep 18, 2022)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr15:41222242-41222244
GRCh38:
Chr15:40930044-40930046
DLL4F89delAdams-Oliver syndrome 6Uncertain significance
(Dec 1, 2017)
criteria provided, single submitter
19.
GRCh37:
Chr15:41222271
GRCh38:
Chr15:40930073
DLL4G98AInborn genetic diseasesUncertain significance
(Dec 15, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr15:41222275
GRCh38:
Chr15:40930077
DLL4not providedLikely benign
(Feb 8, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr15:41222283
GRCh38:
Chr15:40930085
DLL4P102Hnot providedUncertain significance
(Sep 19, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr15:41222293
GRCh38:
Chr15:40930095
DLL4not providedLikely benign
(Mar 26, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr15:41222320
GRCh38:
Chr15:40930122
DLL4not providedUncertain significance
(Nov 7, 2019)
criteria provided, single submitter
24.
GRCh37:
Chr15:41222331
GRCh38:
Chr15:40930133
DLL4not providedBenign
(Aug 27, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr15:41222487
GRCh38:
Chr15:40930289
DLL4not providedBenign
(Nov 8, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr15:41222803
GRCh38:
Chr15:40930605
DLL4not providedBenign
(Jul 23, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr15:41222813
GRCh38:
Chr15:40930615
DLL4not providedLikely benign
(Mar 9, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr15:41222815
GRCh38:
Chr15:40930617
DLL4not providedLikely benign
(Dec 2, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr15:41222839
GRCh38:
Chr15:40930641
DLL4I118fsnot providedPathogenic
(Feb 22, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr15:41222847
GRCh38:
Chr15:40930649
DLL4A121PAdams-Oliver syndromePathogeniccriteria provided, single submitter
31.
GRCh37:
Chr15:41222855
GRCh38:
Chr15:40930657
DLL4not providedBenign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr15:41222861
GRCh38:
Chr15:40930663
DLL4not providedLikely benign
(Jun 10, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr15:41222867
GRCh38:
Chr15:40930669
DLL4D127Enot providedUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr15:41222868
GRCh38:
Chr15:40930670
DLL4D128NInborn genetic diseases, Adams-Oliver syndrome 6, not provided
Conflicting interpretations of pathogenicity
(Aug 11, 2022)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr15:41223682
GRCh38:
Chr15:40931484
DLL4not providedLikely benign
(Aug 16, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr15:41223683
GRCh38:
Chr15:40931485
DLL4not providedBenign
(Sep 13, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr15:41223695
GRCh38:
Chr15:40931497
DLL4not providedLikely benign
(Jul 17, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr15:41223704
GRCh38:
Chr15:40931506
DLL4A133Dnot providedLikely benign
(Nov 23, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr15:41223736
GRCh38:
Chr15:40931538
DLL4A144Tnot providedUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr15:41223747
GRCh38:
Chr15:40931549
DLL4not providedLikely benign
(Sep 7, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr15:41223775
GRCh38:
Chr15:40931577
DLL4not providedLikely benign
(Dec 3, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr15:41223776
GRCh38:
Chr15:40931578
DLL4L157Snot providedUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr15:41223778
GRCh38:
Chr15:40931580
DLL4D158Nnot providedUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr15:41223788
GRCh38:
Chr15:40931590
DLL4T161Snot providedUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr15:41223794
GRCh38:
Chr15:40931596
DLL4T163Snot providedUncertain significance
(Dec 3, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr15:41223805
GRCh38:
Chr15:40931607
DLL4not providedLikely benign
(Mar 29, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr15:41223822
GRCh38:
Chr15:40931624
DLL4not providedBenign
(Oct 3, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr15:41223828
GRCh38:
Chr15:40931630
DLL4not providedLikely benign
(Feb 3, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr15:41223840
GRCh38:
Chr15:40931642
DLL4not providedLikely benign
(Jun 1, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr15:41223862
GRCh38:
Chr15:40931664
DLL4R186CAdams-Oliver syndromePathogeniccriteria provided, single submitter
51.
GRCh37:
Chr15:41223863
GRCh38:
Chr15:40931665
DLL4R186Hnot providedUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr15:41223882
GRCh38:
Chr15:40931684
DLL4not providedLikely benign
(Jun 7, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr15:41223888
GRCh38:
Chr15:40931690
DLL4not providedLikely benign
(Apr 26, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr15:41223889
GRCh38:
Chr15:40931691
DLL4F195LAdams-Oliver syndromePathogeniccriteria provided, single submitter
55.
GRCh37:
Chr15:41223891
GRCh38:
Chr15:40931693
DLL4not providedLikely benign
(Sep 1, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr15:41223901
GRCh38:
Chr15:40931703
DLL4V199Lnot providedLikely benign
(Feb 8, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr15:41223901
GRCh38:
Chr15:40931703
DLL4V199Mnot providedUncertain significance
(Jul 18, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr15:41223937
GRCh38:
Chr15:40931739
DLL4G211Snot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr15:41223953
GRCh38:
Chr15:40931755
DLL4Y216Cnot providedUncertain significance
(Jul 30, 2019)
criteria provided, single submitter
60.
GRCh37:
Chr15:41223974
GRCh38:
Chr15:40931776
DLL4not providedLikely benign
(Jun 20, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr15:41224124
GRCh38:
Chr15:40931926
DLL4not providedBenign
(Oct 16, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr15:41224280
GRCh38:
Chr15:40932082
DLL4not providedBenign
(Nov 11, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr15:41224292
GRCh38:
Chr15:40932094
DLL4not providedBenign
(Nov 16, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr15:41224349
GRCh38:
Chr15:40932151
DLL4not providedLikely benign
(Jun 19, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr15:41224371
GRCh38:
Chr15:40932173
DLL4I221VInborn genetic diseasesUncertain significance
(May 29, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr15:41224381
GRCh38:
Chr15:40932183
DLL4S224Lnot providedUncertain significance
(Sep 2, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr15:41224382
GRCh38:
Chr15:40932184
DLL4not providedBenign
(Sep 17, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr15:41224414
GRCh38:
Chr15:40932216
DLL4K235Tnot providedUncertain significance
(Mar 22, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr15:41224418
GRCh38:
Chr15:40932220
DLL4not providedLikely benign
(Oct 5, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr15:41224499
GRCh38:
Chr15:40932301
DLL4not providedLikely benign
(Jan 3, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr15:41224505
GRCh38:
Chr15:40932307
DLL4not providedBenign
(Aug 16, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr15:41224506
GRCh38:
Chr15:40932308
DLL4not providedLikely benign
(Jun 13, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr15:41224537
GRCh38:
Chr15:40932339
DLL4R248Wnot providedUncertain significance
(Dec 3, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr15:41224538
GRCh38:
Chr15:40932340
DLL4R248QInborn genetic diseases, not providedLikely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr15:41224548
GRCh38:
Chr15:40932350
DLL4not providedLikely benign
(Aug 8, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr15:41224549
GRCh38:
Chr15:40932351
DLL4E252Knot providedUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr15:41224557
GRCh38:
Chr15:40932359
DLL4not providedBenign
(Oct 4, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr15:41224577
GRCh38:
Chr15:40932379
DLL4H261Rnot providedUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr15:41224579
GRCh38:
Chr15:40932381
DLL4G262SAdams-Oliver syndrome 6Likely pathogenic
(Oct 2, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr15:41224594
GRCh38:
Chr15:40932396
DLL4P267TAdams-Oliver syndrome 6, Adams-Oliver syndromeConflicting interpretations of pathogenicity
(Dec 1, 2017)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr15:41226439
GRCh38:
Chr15:40934241
DLL4not providedBenign
(Nov 16, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr15:41226521-41226522
GRCh38:
Chr15:40934323-40934324
DLL4not providedBenign
(Aug 13, 2020)
criteria provided, single submitter
83.
GRCh37:
Chr15:41226522
GRCh38:
Chr15:40934324
DLL4not providedLikely benign
(Jun 20, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr15:41226770
GRCh38:
Chr15:40934572
DLL4S292Fnot providedUncertain significanceno assertion criteria provided
85.
GRCh37:
Chr15:41226786
GRCh38:
Chr15:40934588
DLL4not providedLikely benign
(Dec 2, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr15:41226790
GRCh38:
Chr15:40934592
DLL4T299Anot providedUncertain significance
(Dec 3, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr15:41226792
GRCh38:
Chr15:40934594
DLL4not providedBenign/Likely benign
(Oct 20, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr15:41226821
GRCh38:
Chr15:40934623
DLL4T309Inot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr15:41226832
GRCh38:
Chr15:40934634
DLL4R313CInborn genetic diseases, not providedUncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr15:41226833
GRCh38:
Chr15:40934635
DLL4R313HInborn genetic diseases, not providedConflicting interpretations of pathogenicity
(Aug 17, 2022)
criteria provided, conflicting interpretations
91.
GRCh37:
Chr15:41226844
GRCh38:
Chr15:40934646
DLL4T317PAdams-Oliver syndrome 6Likely pathogenic
(Dec 1, 2017)
criteria provided, single submitter
92.
GRCh37:
Chr15:41226864
GRCh38:
Chr15:40934666
DLL4not providedLikely benign
(Oct 3, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr15:41226873
GRCh38:
Chr15:40934675
DLL4not providedUncertain significance
(Jun 14, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr15:41226874
GRCh38:
Chr15:40934676
DLL4E327Knot providedUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr15:41226896
GRCh38:
Chr15:40934698
DLL4R334Hnot providedUncertain significance
(Nov 1, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr15:41226900
GRCh38:
Chr15:40934702
DLL4not providedLikely benign
(Nov 1, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr15:41226929
GRCh38:
Chr15:40934731
DLL4not providedLikely benign
(Aug 16, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr15:41226930
GRCh38:
Chr15:40934732
DLL4not providedLikely benign
(Jul 23, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr15:41227050
GRCh38:
Chr15:40934852
DLL4not providedBenign
(Dec 24, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr15:41227100
GRCh38:
Chr15:40934902
DLL4Q342Rnot providedUncertain significance
(Feb 2, 2022)
criteria provided, single submitter
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