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Items: 1 to 100 of 480

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:532636-554276
HRAS, LRRC56not provided, Costello syndromeUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr11:533527
GRCh38:
Chr11:533527
HRAS, LRRC56E126*, W19CCostello syndromeUncertain significance
(Apr 25, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr11:532717
GRCh38:
Chr11:532717
HRAS, LRRC56I163M, I84MCostello syndromeUncertain significance
(Mar 20, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr11:534268
GRCh38:
Chr11:534268
HRAS, LRRC56L19MCostello syndromeUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
5.
GRCh37:
Chr11:533836
GRCh38:
Chr11:533836
HRAS, LRRC56T74ACostello syndromeUncertain significance
(Jul 14, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr11:533479
GRCh38:
Chr11:533479
HRAS, LRRC56I142FCostello syndromeUncertain significance
(Feb 22, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr11:533609
GRCh38:
Chr11:533609
HRAS, LRRC56Costello syndromeUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr11:533826
GRCh38:
Chr11:533826
HRAS, LRRC56G77DCostello syndromeUncertain significance
(Apr 20, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr11:533444
GRCh38:
Chr11:533444
HRAS, LRRC56Costello syndromeLikely benign
(Sep 13, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr11:534297-534298
GRCh38:
Chr11:534297-534298
LRRC56, HRASV9fsCostello syndromeUncertain significance
(May 10, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr11:533878
GRCh38:
Chr11:533878
HRAS, LRRC56G60RCostello syndromeUncertain significance
(Dec 20, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr11:533958
GRCh38:
Chr11:533958
HRAS, LRRC56Costello syndromeLikely benign
(Jul 29, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr11:533465
GRCh38:
Chr11:533465
HRAS, LRRC56P40LCostello syndromeLikely benign
(Aug 27, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr11:532774
GRCh38:
Chr11:532774
HRAS, LRRC56Costello syndromeLikely benign
(Aug 4, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr11:533446
GRCh38:
Chr11:533446
HRAS, LRRC56Costello syndromeUncertain significance
(May 11, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr11:533500
GRCh38:
Chr11:533500
HRAS, LRRC56R135*Costello syndromeUncertain significance
(Sep 12, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr11:532676-532677
GRCh38:
Chr11:532676-532677
HRAS, LRRC56S98fs, S177fsCostello syndromeUncertain significance
(May 19, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr11:532755
GRCh38:
Chr11:532755
HRAS, LRRC56G151R, G72RCostello syndromeUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr11:533955
GRCh38:
Chr11:533955
HRAS, LRRC56Costello syndromeUncertain significance
(Apr 19, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr11:533573
GRCh38:
Chr11:533573
HRAS, LRRC56P4QCostello syndromeLikely benign
(Dec 21, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr11:532733
GRCh38:
Chr11:532733
HRAS, LRRC56T158R, T79RCostello syndromeUncertain significance
(Oct 29, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr11:533862
GRCh38:
Chr11:533862
HRAS, LRRC56S65NCostello syndromeUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr11:534200
GRCh38:
Chr11:534200
LRRC56, HRASCostello syndromeLikely benign
(May 10, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr11:533838
GRCh38:
Chr11:533838
HRAS, LRRC56R73HCostello syndromeUncertain significance
(May 5, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr11:534279
GRCh38:
Chr11:534279
HRAS, LRRC56G15VCostello syndromeUncertain significance
(Apr 22, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr11:533905
GRCh38:
Chr11:533905
HRAS, LRRC56C51RCostello syndromeUncertain significance
(Apr 22, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr11:532729
GRCh38:
Chr11:532729
HRAS, LRRC56L159F, L80FCostello syndromeUncertain significance
(Apr 21, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr11:533552
GRCh38:
Chr11:533552
HRAS, LRRC56S11NCostello syndromeLikely benign
(Apr 23, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr11:533584
GRCh38:
Chr11:533584
HRAS, LRRC56D107NCostello syndromeUncertain significance
(Jun 9, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr11:533590
GRCh38:
Chr11:533590
LRRC56, HRASD105HCostello syndromeUncertain significance
(Mar 29, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr11:532720
GRCh38:
Chr11:532720
HRAS, LRRC56E162D, E83DCostello syndromeUncertain significance
(Feb 18, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr11:532759
GRCh38:
Chr11:532759
HRAS, LRRC56Costello syndromeLikely benign
(Feb 5, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr11:532755
GRCh38:
Chr11:532755
HRAS, LRRC56G151R, G72RCostello syndromeUncertain significance
(Oct 24, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr11:533962
GRCh38:
Chr11:533962
HRAS, LRRC56Costello syndromeLikely benign
(Jun 29, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr11:532638-532640
GRCh38:
Chr11:532638-532640
HRAS, LRRC56S110del, S189delCostello syndromeUncertain significance
(Jan 26, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr11:533809
GRCh38:
Chr11:533809
LRRC56, HRASA83TCostello syndromeUncertain significance
(Jan 25, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr11:533831
GRCh38:
Chr11:533831
HRAS, LRRC56Costello syndromeLikely benign
(Jul 2, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr11:533961
GRCh38:
Chr11:533961
HRAS, LRRC56Costello syndromeLikely benign
(May 13, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr11:533841
GRCh38:
Chr11:533841
HRAS, LRRC56M72TCostello syndromeUncertain significance
(Dec 26, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr11:533463-533464
GRCh38:
Chr11:533463-533464
HRAS, LRRC56E98*Costello syndromeUncertain significance
(Dec 16, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr11:533457
GRCh38:
Chr11:533457
HRAS, LRRC56R149Q, G43SCostello syndromeUncertain significance
(Jun 11, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr11:533501-533502
GRCh38:
Chr11:533501-533502
HRAS, LRRC56S136fs, P28fsCostello syndromeUncertain significance
(Oct 23, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr11:533612
GRCh38:
Chr11:533612
HRAS, LRRC56Costello syndromeUncertain significance
(Oct 12, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr11:533864-533865
GRCh38:
Chr11:533864-533865
HRAS, LRRC56Y64*Costello syndromeUncertain significance
(Oct 8, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr11:532775
GRCh38:
Chr11:532775
HRAS, LRRC56Costello syndromeLikely benign
(Sep 27, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr11:532666
GRCh38:
Chr11:532666
HRAS, LRRC56Costello syndromeLikely benign
(Aug 30, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr11:534299-534307
GRCh38:
Chr11:534299-534307
HRAS, LRRC56Costello syndromeUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr11:533906
GRCh38:
Chr11:533906
LRRC56, HRASCostello syndromeLikely benign
(Jul 27, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr11:533794
GRCh38:
Chr11:533794
HRAS, LRRC56K88ECostello syndromeUncertain significance
(Jul 10, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr11:532675-532677
GRCh38:
Chr11:532675-532677
HRAS, LRRC56S98del, S177delCostello syndromeUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr11:533497
GRCh38:
Chr11:533497
HRAS, LRRC56S136GCostello syndromeUncertain significance
(Jun 17, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr11:532688
GRCh38:
Chr11:532688
HRAS, LRRC56P173R, P94RCostello syndromeLikely benign
(Aug 23, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr11:533803
GRCh38:
Chr11:533803
HRAS, LRRC56N85DCostello syndromeUncertain significance
(May 12, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr11:533934
GRCh38:
Chr11:533934
HRAS, LRRC56R41PCostello syndromeUncertain significance
(Feb 19, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr11:532672
GRCh38:
Chr11:532672
HRAS, LRRC56Costello syndromeLikely benign
(Oct 11, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr11:533747
GRCh38:
Chr11:533747
HRAS, LRRC56Costello syndromeLikely benign
(Jul 15, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr11:533873
GRCh38:
Chr11:533873
HRAS, LRRC56Costello syndromeLikely benign
(Jul 1, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr11:533435
GRCh38:
Chr11:533435
HRAS, LRRC56Costello syndromeLikely benign
(Apr 24, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr11:533867
GRCh38:
Chr11:533867
HRAS, LRRC56E63DCostello syndromeUncertain significance
(Feb 20, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr11:533899
GRCh38:
Chr11:533899
HRAS, LRRC56Costello syndromeLikely benign
(Aug 18, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr11:533501
GRCh38:
Chr11:533501
HRAS, LRRC56P28LCostello syndromeLikely benign
(Oct 13, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr11:533439
GRCh38:
Chr11:533439
HRAS, LRRC56Costello syndromeLikely benign
(Sep 17, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr11:532727
GRCh38:
Chr11:532727
HRAS, LRRC56V81G, V160GCostello syndromeUncertain significance
(Feb 20, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr11:533759
GRCh38:
Chr11:533759
HRAS, LRRC56Costello syndromeLikely benign
(Apr 20, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr11:532639
GRCh38:
Chr11:532639
HRAS, LRRC56Costello syndromeLikely benign
(Aug 30, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr11:533813
GRCh38:
Chr11:533813
HRAS, LRRC56Costello syndromeLikely benign
(May 25, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr11:533580
GRCh38:
Chr11:533580
HRAS, LRRC56D108G, T2ACostello syndromeUncertain significance
(Apr 22, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr11:533433
GRCh38:
Chr11:533433
HRAS, LRRC56Costello syndromeLikely benign
(Oct 10, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr11:532675
GRCh38:
Chr11:532675
HRAS, LRRC56Costello syndromeLikely benign
(Aug 14, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr11:533806
GRCh38:
Chr11:533806
HRAS, LRRC56I84VCostello syndromeUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr11:533763
GRCh38:
Chr11:533763
HRAS, LRRC56Costello syndrome, Cardiovascular phenotypeUncertain significance
(Jul 8, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr11:534302
GRCh38:
Chr11:534302
HRAS, LRRC56Cardiovascular phenotype, Costello syndrome, not provided
Conflicting interpretations of pathogenicity
(Jun 21, 2022)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr11:532676
GRCh38:
Chr11:532676
HRAS, LRRC56S177T, S98TCostello syndromeUncertain significance
(Jul 14, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr11:534304
GRCh38:
Chr11:534304
HRAS, LRRC56V7LCostello syndromeUncertain significance
(Sep 6, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr11:533578
GRCh38:
Chr11:533578
HRAS, LRRC56V109LCostello syndromeUncertain significance
(Oct 24, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr11:532722
GRCh38:
Chr11:532722
HRAS, LRRC56E162Q, E83QCostello syndromeUncertain significance
(Jul 22, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr11:532647
GRCh38:
Chr11:532647
HRAS, LRRC56V108M, V187MCostello syndromeUncertain significance
(Jul 22, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr11:533963-533964
GRCh38:
Chr11:533963-533964
HRAS, LRRC56Costello syndromeLikely benign
(Jun 29, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr11:533627
GRCh38:
Chr11:533627
HRAS, LRRC56Costello syndromeLikely benign
(Sep 27, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr11:533756
GRCh38:
Chr11:533756
HRAS, LRRC56Costello syndromeLikely benign
(Sep 10, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr11:533918
GRCh38:
Chr11:533918
HRAS, LRRC56Costello syndromeLikely benign
(Feb 9, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr11:534204
GRCh38:
Chr11:534204
HRAS, LRRC56Costello syndromeLikely benign
(Dec 17, 2020)
criteria provided, single submitter
83.
GRCh37:
Chr11:532768
GRCh38:
Chr11:532768
HRAS, LRRC56Costello syndromeLikely benign
(Sep 29, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr11:533456
GRCh38:
Chr11:533456
HRAS, LRRC56G43DCostello syndromeLikely benign
(Aug 16, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr11:533630
GRCh38:
Chr11:533630
HRAS, LRRC56Costello syndromeLikely benign
(Aug 16, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr11:532642
GRCh38:
Chr11:532642
HRAS, LRRC56Costello syndromeLikely benign
(Nov 17, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr11:534317
GRCh38:
Chr11:534317
HRAS, LRRC56Costello syndrome, Cardiovascular phenotypeLikely benign
(Jul 25, 2021)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr11:533495
GRCh38:
Chr11:533495
HRAS, LRRC56A30VCostello syndromeLikely benign
(Nov 24, 2020)
criteria provided, single submitter
89.
GRCh37:
Chr11:533603
GRCh38:
Chr11:533603
HRAS, LRRC56Costello syndrome, Cardiovascular phenotypeLikely benign
(Oct 7, 2021)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr11:533588
GRCh38:
Chr11:533588
HRAS, LRRC56Costello syndromeLikely benign
(Jun 8, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr11:533963
GRCh38:
Chr11:533963
HRAS, LRRC56Costello syndromeLikely benign
(Jul 27, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr11:532768
GRCh38:
Chr11:532768
HRAS, LRRC56Costello syndromeLikely benign
(Sep 13, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr11:532770
GRCh38:
Chr11:532770
HRAS, LRRC56Costello syndromeLikely benign
(Jan 6, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr11:532726
GRCh38:
Chr11:532726
HRAS, LRRC56Costello syndromeLikely benign
(Feb 7, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr11:534194
GRCh38:
Chr11:534194
HRAS, LRRC56Costello syndromeLikely benign
(Mar 1, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr11:533599
GRCh38:
Chr11:533599
HRAS, LRRC56Costello syndromeLikely benign
(Mar 7, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr11:533579
GRCh38:
Chr11:533579
HRAS, LRRC56T2MCostello syndromeLikely benign
(Oct 26, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr11:533890
GRCh38:
Chr11:533890
HRAS, LRRC56Costello syndromeLikely benign
(Jan 28, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr11:533627
GRCh38:
Chr11:533627
HRAS, LRRC56Costello syndromeLikely benign
(Jul 15, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr11:532761
GRCh38:
Chr11:532761
LRRC56, HRASCostello syndromeLikely benign
(Oct 25, 2022)
criteria provided, single submitter
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