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Items: 1 to 100 of 3013

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:86194737-90910559
GRCh38:
Chr10:84434981-89150802
ATAD1, ACTA2, ACTA2-AS1, ADIRF, ADIRF-AS1, AGAP11, ANKRD22, BMPR1A, CCSER2, FAM245A, FAM25A, FAS, FAS-AS1, GLUD1, GRID1, GRID1-AS1, KLLN, LDB3, LINC00863, LINC01519, LINC01520, LINC02647, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC101929662, LOC110121486, LOC111982877, LOC111982878, LOC116216117, LOC121366069, LOC121366070, LOC121366071, LOC121815954, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC124416863, LOC124416864, LOC126860987, LOC126860988, LOC126860989, LOC126860990, LOC126860991, LOC126860992, LOC126860993, LOC129390211, LOC129390212, LOC129390213, LOC130004223, LOC130004224, LOC130004225, LOC130004226, LOC130004227, LOC130004228, LOC130004229, LOC130004230, LOC130004231, LOC130004232, LOC130004233, LOC130004234, LOC130004235, LOC130004236, LOC130004237, LOC130004238, LOC130004239, LOC130004240, LOC130004241, LOC130004242, LOC130004243, LOC130004244, LOC130004245, LOC130004246, LOC130004247, LOC130004248, LOC130004249, LOC130004250, LOC130004251, LOC130004252, LOC130004253, LOC130004254, LOC130004255, LOC130004256, LOC130004257, LOC130004258, LOC130004259, LOC130004260, LOC130004261, LOC130004262, LOC130004263, LOC130004264, LOC130004265, LOC130004266, LOC130004267, LOC130004268, LOC130004269, LOC130004270, LOC130004271, LOC130004272, LOC130004273, LOC130004274, LOC130004275, LOC130004276, LOC130004277, LOC130004278, LOC130004279, LOC130004280, LOC130004281, LOC130004282, LOC130004283, LOC130004284, LOC130004285, LOC130004286, LOC130004287, LOC130004288, LOC130004289, LOC130004290, LOC130004291, LOC130004292, LOC130004293, LOC130004294, LOC130004295, LOC130004296, LOC132089869, LOC132089870, LOC132089871, LOC132089872, LOC132089873, LOC132089874, LOC132089875, LOC132089876, LOC132090824, MINPP1, MIR346, MIR4678, MIR4679-1, MIR4679-2, MMRN2, NUTM2A, NUTM2A-AS1, NUTM2D, OPN4, PAPSS2, PTEN, RNLS, SHLD2, SNCG, STAMBPL1, WAPL, WAPL-DT
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr10:88514773-89725239
GRCh38:
Chr10:86755016-87965482
Generalized juvenile polyposis/juvenile polyposis coliPathogenic
(Mar 6, 2019)
criteria provided, single submitter
3.
GRCh37:
Chr10:88598623-89725239
GRCh38:
Chr10:86838866-87965482
Generalized juvenile polyposis/juvenile polyposis coliPathogenic
(Nov 1, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr10:88635625-89653886
GRCh38:
Chr10:86875868-87894129
PTEN hamartoma tumor syndromePathogenic
(Sep 17, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr10:89590587-90376982
GRCh38:
Chr10:87830830-88617225
Poly (ADP-Ribose) polymerase inhibitor responsedrug response
(Nov 27, 2017)
no assertion criteria provided
6.
GRCh37:
Chr10:89621727
GRCh38:
Chr10:87861970
KLLN, PTENK173Rnot specifiedUncertain significance
(Jul 23, 2019)
criteria provided, single submitter
7.
GRCh37:
Chr10:89621800
GRCh38:
Chr10:87862043
KLLN, PTENW149Rnot specified, not providedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr10:89621853
GRCh38:
Chr10:87862096
KLLN, PTENN131Snot specified, not providedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr10:89621861
GRCh38:
Chr10:87862104
KLLN, PTENnot specifiedUncertain significance
(Mar 3, 2020)
criteria provided, single submitter
10.
GRCh37:
Chr10:89621863
GRCh38:
Chr10:87862106
KLLN, PTENR128Gnot provided, not specifiedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr10:89621902-89621903
GRCh38:
Chr10:87862145-87862146
KLLN, PTENA115fsnot specifiedUncertain significance
(Apr 20, 2020)
criteria provided, single submitter
12.
GRCh37:
Chr10:89621905-89621906
GRCh38:
Chr10:87862148-87862149
KLLN, PTENA115fsnot specified, not providedConflicting interpretations of pathogenicity
(Aug 15, 2023)
criteria provided, conflicting interpretations
13.
GRCh37:
Chr10:89622010
GRCh38:
Chr10:87862253
KLLN, PTENP79Tnot specifiedUncertain significance
(Apr 20, 2020)
criteria provided, single submitter
14.
GRCh37:
Chr10:89622011
GRCh38:
Chr10:87862254
KLLN, PTENnot specifiedUncertain significance
(Apr 20, 2020)
criteria provided, single submitter
15.
GRCh37:
Chr10:89622041
GRCh38:
Chr10:87862284
KLLN, LOC130004271, PTENnot specifiedUncertain significance
(Nov 30, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr10:89622114
GRCh38:
Chr10:87862357
KLLN, PTENG44Anot specifiedUncertain significance
(Dec 18, 2020)
criteria provided, single submitter
17.
GRCh37:
Chr10:89622115
GRCh38:
Chr10:87862358
KLLN, PTENG44Rnot specifiedUncertain significance
(Dec 18, 2020)
criteria provided, single submitter
18.
GRCh37:
Chr10:89622179
GRCh38:
Chr10:87862422
KLLN, PTENnot specifiedUncertain significance
(Nov 15, 2019)
criteria provided, single submitter
19.
GRCh37:
Chr10:89622180
GRCh38:
Chr10:87862423
KLLN, PTENV22DInborn genetic diseases, not specifiedUncertain significance
(Feb 22, 2023)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr10:89622187
GRCh38:
Chr10:87862430
KLLN, PTENY20Hnot specifiedLikely benign
(Apr 2, 2019)
criteria provided, single submitter
21.
GRCh37:
Chr10:89622188
GRCh38:
Chr10:87862431
KLLN, PTENnot specifiedLikely benign
(Apr 2, 2019)
criteria provided, single submitter
22.
GRCh37:
Chr10:89622228
GRCh38:
Chr10:87862471
KLLN, PTENP6Lnot specifiedUncertain significance
(Jan 4, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr10:89622885
GRCh38:
Chr10:87863128
KLLN, PTENnot providedUncertain significance
(Jul 9, 2014)
criteria provided, single submitter
24.
GRCh37:
Chr10:89622888
GRCh38:
Chr10:87863131
KLLN, PTENnot providedUncertain significance
(Aug 30, 2019)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr10:89622891
GRCh38:
Chr10:87863134
KLLN, PTENnot providedUncertain significance
(Dec 1, 2015)
criteria provided, single submitter
26.
GRCh37:
Chr10:89622896
GRCh38:
Chr10:87863139
KLLN, PTENnot specifiedUncertain significance
(Mar 30, 2015)
criteria provided, single submitter
27.
GRCh37:
Chr10:89622902
GRCh38:
Chr10:87863145
KLLN, PTENnot providedUncertain significance
(Dec 31, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr10:89622905
GRCh38:
Chr10:87863148
KLLN, PTENnot providedUncertain significance
(Jun 21, 2017)
criteria provided, single submitter
29.
GRCh37:
Chr10:89622915
GRCh38:
Chr10:87863158
KLLN, PTENPTEN hamartoma tumor syndromeBenign
(Jun 2, 2017)
reviewed by expert panel
FDA Recognized Database
30.
GRCh37:
Chr10:89622916
GRCh38:
Chr10:87863159
KLLN, PTENnot providedUncertain significance
(May 12, 2015)
criteria provided, single submitter
31.
GRCh37:
Chr10:89622918-89624325
GRCh38:
Chr10:87863161-87864568
KLLN, LOC130004273, LOC130004274, PTENPTEN hamartoma tumor syndromeUncertain significance
(Feb 27, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr10:89622919
GRCh38:
Chr10:87863162
KLLN, PTENnot providedUncertain significance
(Aug 16, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr10:89622921
GRCh38:
Chr10:87863164
KLLN, PTENnot specifiedUncertain significance
(Apr 28, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr10:89622925
GRCh38:
Chr10:87863168
KLLN, PTENnot providedUncertain significance
(Mar 26, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr10:89622928-89624315
GRCh38:
Chr10:87863171-87864558
KLLN, LOC130004273, LOC130004274, PTENPTEN hamartoma tumor syndromePathogenic
(Sep 9, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr10:89622928
GRCh38:
Chr10:87863171
KLLN, PTENnot providedUncertain significance
(Oct 11, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr10:89622931
GRCh38:
Chr10:87863174
KLLN, PTENnot providedUncertain significance
(Oct 9, 2017)
criteria provided, single submitter
38.
GRCh37:
Chr10:89622933
GRCh38:
Chr10:87863176
KLLN, PTENnot providedUncertain significance
(Sep 26, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr10:89622936
GRCh38:
Chr10:87863179
KLLN, PTENnot specifiedUncertain significance
(Oct 13, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr10:89622938-89622939
GRCh38:
Chr10:87863181-87863182
KLLN, PTENHereditary cancer-predisposing syndrome, not providedUncertain significance
(Feb 22, 2019)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr10:89622939
GRCh38:
Chr10:87863182
KLLN, PTENHereditary cancer-predisposing syndrome, not providedUncertain significance
(Mar 17, 2018)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr10:89622939
GRCh38:
Chr10:87863182
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(Sep 7, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr10:89622940
GRCh38:
Chr10:87863183
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(Jul 20, 2017)
criteria provided, single submitter
44.
GRCh37:
Chr10:89622941
GRCh38:
Chr10:87863184
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(May 9, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr10:89622942
GRCh38:
Chr10:87863185
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(Jun 7, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr10:89622944-89622945
GRCh38:
Chr10:87863187-87863188
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(Nov 1, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr10:89622945
GRCh38:
Chr10:87863188
KLLN, PTENnot providedUncertain significance
(May 2, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr10:89622947
GRCh38:
Chr10:87863190
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(Apr 7, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr10:89622951
GRCh38:
Chr10:87863194
KLLN, PTENnot provided, Hereditary cancer-predisposing syndromeUncertain significance
(May 2, 2018)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr10:89622960
GRCh38:
Chr10:87863203
KLLN, PTENnot providedUncertain significance
(Jan 26, 2015)
criteria provided, single submitter
51.
GRCh37:
Chr10:89622964
GRCh38:
Chr10:87863207
KLLN, PTENnot specifiedUncertain significanceno assertion criteria provided
52.
GRCh37:
Chr10:89622965
GRCh38:
Chr10:87863208
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(Oct 16, 2019)
criteria provided, single submitter
53.
GRCh37:
Chr10:89622970
GRCh38:
Chr10:87863213
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(Oct 24, 2019)
criteria provided, single submitter
54.
GRCh37:
Chr10:89622972-89623860
GRCh38:
Chr10:87863215-87864103
KLLN, LOC130004273, LOC130004274, PTENHereditary cancer-predisposing syndromeUncertain significance
(Jul 28, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr10:89622976-89622977
GRCh38:
Chr10:87863219-87863220
KLLN, PTENHereditary cancer-predisposing syndrome, not specifiedUncertain significance
(Sep 27, 2018)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr10:89622980
GRCh38:
Chr10:87863223
KLLN, PTENVACTERL with hydrocephalus, Cowden syndrome 1, Macrocephaly-autism syndrome,
Glioma susceptibility 2, PTEN hamartoma tumor syndrome, Familial meningioma,
Malignant tumor of prostate, not provided
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr10:89622982
GRCh38:
Chr10:87863225
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(Feb 23, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr10:89622983
GRCh38:
Chr10:87863226
KLLN, PTENPTEN-related condition, Hereditary cancer-predisposing syndromeUncertain significance
(Jul 12, 2023)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr10:89622984
GRCh38:
Chr10:87863227
KLLN, PTENnot provided, PTEN hamartoma tumor syndromeUncertain significance
(May 28, 2019)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr10:89622986
GRCh38:
Chr10:87863229
KLLN, PTENnot providedUncertain significance
(Jul 28, 2015)
criteria provided, single submitter
61.
GRCh37:
Chr10:89622989
GRCh38:
Chr10:87863232
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(Jan 25, 2019)
criteria provided, single submitter
62.
GRCh37:
Chr10:89622989
GRCh38:
Chr10:87863232
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(Dec 26, 2017)
criteria provided, single submitter
63.
GRCh37:
Chr10:89622991
GRCh38:
Chr10:87863234
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(Apr 23, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr10:89622991
GRCh38:
Chr10:87863234
KLLN, PTENnot provided, Hereditary cancer-predisposing syndromeUncertain significance
(Feb 25, 2019)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr10:89622992
GRCh38:
Chr10:87863235
KLLN, PTENnot specified, Cowden syndrome 4Uncertain significance
(Dec 9, 2020)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr10:89622992
GRCh38:
Chr10:87863235
KLLN, PTENnot providedUncertain significance
(Jan 3, 2014)
criteria provided, single submitter
67.
GRCh37:
Chr10:89622995
GRCh38:
Chr10:87863238
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(May 29, 2020)
criteria provided, single submitter
68.
GRCh37:
Chr10:89623000
GRCh38:
Chr10:87863243
KLLN, PTENnot providedUncertain significance
(Sep 29, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr10:89623002
GRCh38:
Chr10:87863245
KLLN, PTENnot providedUncertain significance
(Oct 17, 2017)
criteria provided, single submitter
70.
GRCh37:
Chr10:89623004
GRCh38:
Chr10:87863247
KLLN, PTENnot providedUncertain significance
(Apr 4, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr10:89623005
GRCh38:
Chr10:87863248
KLLN, PTENnot providedUncertain significance
(Nov 9, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr10:89623005
GRCh38:
Chr10:87863248
KLLN, PTENnot providedUncertain significance
(May 25, 2020)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr10:89623010
GRCh38:
Chr10:87863253
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(Oct 30, 2014)
criteria provided, single submitter
74.
GRCh37:
Chr10:89623012
GRCh38:
Chr10:87863255
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(Apr 2, 2014)
criteria provided, single submitter
75.
GRCh37:
Chr10:89623014
GRCh38:
Chr10:87863257
KLLN, PTENnot providedUncertain significance
(Oct 27, 2017)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr10:89623015
GRCh38:
Chr10:87863258
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(Oct 9, 2017)
criteria provided, single submitter
77.
GRCh37:
Chr10:89623016
GRCh38:
Chr10:87863259
KLLN, PTENnot providedUncertain significance
(Aug 11, 2017)
criteria provided, single submitter
78.
GRCh37:
Chr10:89623018
GRCh38:
Chr10:87863261
KLLN, PTENnot providedUncertain significance
(Apr 21, 2014)
criteria provided, single submitter
79.
GRCh37:
Chr10:89623019
GRCh38:
Chr10:87863262
KLLN, PTENnot providedUncertain significance
(Apr 8, 2020)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr10:89623020
GRCh38:
Chr10:87863263
KLLN, PTENnot providedUncertain significance
(May 11, 2015)
criteria provided, single submitter
81.
GRCh37:
Chr10:89623021
GRCh38:
Chr10:87863264
KLLN, PTENnot provided, Macrocephaly-autism syndrome, Familial meningioma,
Malignant tumor of prostate, Cowden syndrome 1, Glioma susceptibility 2
Uncertain significance
(Mar 15, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr10:89623024
GRCh38:
Chr10:87863267
KLLN, PTENnot providedUncertain significance
(Nov 29, 2017)
criteria provided, single submitter
83.
GRCh37:
Chr10:89623027-89623038
GRCh38:
Chr10:87863270-87863281
KLLN, PTENPTEN hamartoma tumor syndromeLikely benign
(Mar 5, 2019)
reviewed by expert panel
FDA Recognized Database
84.
GRCh37:
Chr10:89623029
GRCh38:
Chr10:87863272
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(Dec 13, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr10:89623034
GRCh38:
Chr10:87863277
KLLN, PTENnot provided, Hereditary cancer-predisposing syndromeUncertain significance
(Nov 30, 2019)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr10:89623036-89623038
GRCh38:
Chr10:87863279-87863281
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(Apr 26, 2014)
criteria provided, single submitter
87.
GRCh37:
Chr10:89623036
GRCh38:
Chr10:87863279
KLLN, PTENPTEN hamartoma tumor syndromeUncertain significance
(Mar 23, 2020)
reviewed by expert panel
FDA Recognized Database
88.
GRCh37:
Chr10:89623045
GRCh38:
Chr10:87863288
KLLN, PTENnot specifiedUncertain significance
(Aug 2, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr10:89623045-89623061
GRCh38:
Chr10:87863288-87863304
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(Apr 8, 2019)
criteria provided, single submitter
90.
GRCh37:
Chr10:89623045
GRCh38:
Chr10:87863288
KLLN, PTENnot providedUncertain significance
(Dec 23, 2017)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr10:89623047-89623048
GRCh38:
Chr10:87863290-87863291
KLLN, PTENnot providedUncertain significance
(Aug 29, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr10:89623047
GRCh38:
Chr10:87863290
KLLN, PTENHereditary cancer-predisposing syndrome, not specified, not provided
Uncertain significance
(Jul 19, 2021)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr10:89623050
GRCh38:
Chr10:87863293
KLLN, PTENGlioma susceptibility 2, Macrocephaly-autism syndrome, Familial meningioma,
Malignant tumor of prostate, Cowden syndrome 1, Hereditary cancer-predisposing syndrome,
not provided, Cowden syndrome 1
Uncertain significance
(Oct 19, 2021)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr10:89623052
GRCh38:
Chr10:87863295
KLLN, PTENnot specifiedUncertain significance
(Jan 7, 2020)
criteria provided, single submitter
95.
GRCh37:
Chr10:89623052
GRCh38:
Chr10:87863295
KLLN, PTENnot providedUncertain significance
(Sep 19, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr10:89623053
GRCh38:
Chr10:87863296
KLLN, PTENnot providedUncertain significance
(Mar 7, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr10:89623054
GRCh38:
Chr10:87863297
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
98.
GRCh37:
Chr10:89623054
GRCh38:
Chr10:87863297
KLLN, PTENnot provided, Hereditary cancer-predisposing syndromeUncertain significance
(Jan 3, 2017)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr10:89623054
GRCh38:
Chr10:87863297
KLLN, PTENHereditary cancer-predisposing syndromeUncertain significance
(May 17, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr10:89623056
GRCh38:
Chr10:87863299
KLLN, PTENPTEN hamartoma tumor syndromeUncertain significance
(Oct 20, 2020)
reviewed by expert panel
FDA Recognized Database
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