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Links from MedGen

Items: 1 to 100 of 701

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:66508520-66548013
PRKAR1A, FAM20ACarney complex, type 1Pathogenic
(Oct 13, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr17:66518887-66519967
PRKAR1ACarney complex, type 1Pathogenic
(Jan 1, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr17:66508520-66508699
PRKAR1ACarney complex, type 1Uncertain significance
(Jun 29, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr17:66520183
GRCh38:
Chr17:68524042
PRKAR1AV156GCarney complex, type 1Uncertain significance
(Jan 3, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr17:66521881
GRCh38:
Chr17:68525740
PRKAR1ACarney complex, type 1Likely benign
(Aug 3, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr17:66525004
GRCh38:
Chr17:68528863
PRKAR1ACarney complex, type 1Likely benign
(Jun 10, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr17:66519077-66519078
GRCh38:
Chr17:68522936-68522937
PRKAR1ACarney complex, type 1Likely benign
(Apr 13, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr17:66511729
GRCh38:
Chr17:68515588
PRKAR1ACarney complex, type 1Likely benign
(Jun 22, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr17:66520190
GRCh38:
Chr17:68524049
PRKAR1ACarney complex, type 1Likely benign
(Jan 19, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr17:66519869
GRCh38:
Chr17:68523728
PRKAR1AI118VCarney complex, type 1Uncertain significance
(Apr 4, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr17:66511627
GRCh38:
Chr17:68515486
PRKAR1ACarney complex, type 1Likely benign
(May 18, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr17:66518975
GRCh38:
Chr17:68522834
PRKAR1AP86SCarney complex, type 1Uncertain significance
(Oct 8, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr17:66526099-66526100
GRCh38:
Chr17:68529958-68529959
PRKAR1AE311fsCarney complex, type 1Pathogenic
(Aug 3, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr17:66519906
GRCh38:
Chr17:68523765
PRKAR1AK130RCarney complex, type 1Uncertain significance
(May 19, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr17:66520236
GRCh38:
Chr17:68524095
PRKAR1ACarney complex, type 1Likely benign
(Aug 21, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr17:66526150
GRCh38:
Chr17:68530009
PRKAR1ACarney complex, type 1Likely benign
(Jun 28, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr17:66519082
GRCh38:
Chr17:68522941
PRKAR1ACarney complex, type 1Likely benign
(Jun 5, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr17:66526414
GRCh38:
Chr17:68530273
PRKAR1ACarney complex, type 1Likely benign
(Aug 19, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr17:66511586
GRCh38:
Chr17:68515445
PRKAR1AR16GHereditary cancer-predisposing syndrome, Carney complex, type 1Uncertain significance
(May 4, 2023)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr17:66520222
GRCh38:
Chr17:68524081
PRKAR1ACarney complex, type 1Uncertain significance
(Aug 20, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr17:66511703
GRCh38:
Chr17:68515562
PRKAR1AE55QCarney complex, type 1Uncertain significance
(Apr 24, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr17:66526398
GRCh38:
Chr17:68530257
PRKAR1ACarney complex, type 1Likely benign
(Feb 1, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr17:66525016
GRCh38:
Chr17:68528875
PRKAR1AL259VCarney complex, type 1Uncertain significance
(Aug 31, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr17:66526428
GRCh38:
Chr17:68530287
PRKAR1ACarney complex, type 1Likely benign
(Mar 26, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr17:66521936
GRCh38:
Chr17:68525795
PRKAR1ACarney complex, type 1Likely benign
(Mar 6, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr17:66520227
GRCh38:
Chr17:68524086
PRKAR1ACarney complex, type 1Likely benign
(Jun 21, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr17:66518883
GRCh38:
Chr17:68522742
PRKAR1ACarney complex, type 1Likely benign
(Feb 4, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr17:66521876
GRCh38:
Chr17:68525735
PRKAR1ACarney complex, type 1Likely benign
(Feb 6, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr17:66521117-66521118
GRCh38:
Chr17:68524976-68524977
PRKAR1ACarney complex, type 1Likely benign
(Apr 15, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr17:66520155
GRCh38:
Chr17:68524014
PRKAR1ACarney complex, type 1Likely pathogenic
(Oct 17, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr17:66525028
GRCh38:
Chr17:68528887
PRKAR1AE263*Carney complex, type 1Pathogenic
(May 9, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr17:66518987
GRCh38:
Chr17:68522846
PRKAR1AV90LCarney complex, type 1Uncertain significance
(Apr 28, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr17:66522008
GRCh38:
Chr17:68525867
PRKAR1ACarney complex, type 1Likely benign
(Apr 21, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr17:66508660-66508661
GRCh38:
Chr17:68512519-68512520
PRKAR1ACarney complex, type 1Uncertain significance
(Jan 26, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr17:66526542
GRCh38:
Chr17:68530401
PRKAR1ACarney complex, type 1Likely benign
(Apr 6, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr17:66511550
GRCh38:
Chr17:68515409
PRKAR1AG4CCarney complex, type 1Uncertain significance
(Mar 24, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr17:66521877
GRCh38:
Chr17:68525736
PRKAR1ACarney complex, type 1Likely benign
(Sep 21, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr17:66518917
GRCh38:
Chr17:68522776
PRKAR1ACarney complex, type 1Likely benign
(Mar 16, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr17:66520140
GRCh38:
Chr17:68523999
PRKAR1ACarney complex, type 1Likely benign
(Dec 12, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr17:66520161
GRCh38:
Chr17:68524020
PRKAR1AI149FCarney complex, type 1Uncertain significance
(Mar 6, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr17:66525000
GRCh38:
Chr17:68528859
PRKAR1ACarney complex, type 1Likely benign
(Apr 20, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr17:66508685
GRCh38:
Chr17:68512544
PRKAR1ACarney complex, type 1Uncertain significance
(Jul 31, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr17:66508696
GRCh38:
Chr17:68512555
PRKAR1ACarney complex, type 1Likely benign
(Feb 10, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr17:66518959
GRCh38:
Chr17:68522818
PRKAR1ACarney complex, type 1Likely benign
(Feb 6, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr17:66519083
GRCh38:
Chr17:68522942
PRKAR1ACarney complex, type 1Likely benign
(Jun 28, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr17:66520179
GRCh38:
Chr17:68524038
PRKAR1AS155ACarney complex, type 1Uncertain significance
(Feb 11, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr17:66522047
GRCh38:
Chr17:68525906
PRKAR1ACarney complex, type 1Likely benign
(Jan 31, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr17:66525150
GRCh38:
Chr17:68529009
PRKAR1ACarney complex, type 1Likely benign
(Jan 26, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr17:66521939
GRCh38:
Chr17:68525798
PRKAR1ACarney complex, type 1Likely benign
(Jan 20, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr17:66521108
GRCh38:
Chr17:68524967
PRKAR1ACarney complex, type 1Likely benign
(Feb 9, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr17:66521884
GRCh38:
Chr17:68525743
PRKAR1ACarney complex, type 1Likely benign
(May 7, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr17:66522012
GRCh38:
Chr17:68525871
PRKAR1ACarney complex, type 1Likely benign
(Jan 15, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr17:66518931
GRCh38:
Chr17:68522790
PRKAR1AA71VCarney complex, type 1Uncertain significance
(Jun 14, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr17:66526414
GRCh38:
Chr17:68530273
PRKAR1ACarney complex, type 1Likely benign
(Jun 19, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr17:66521883
GRCh38:
Chr17:68525742
PRKAR1ACarney complex, type 1Likely benign
(Jul 26, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr17:66521118
GRCh38:
Chr17:68524977
PRKAR1ACarney complex, type 1Benign
(Dec 29, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr17:66521063
GRCh38:
Chr17:68524922
PRKAR1ACarney complex, type 1Likely benign
(Mar 4, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr17:66521043
GRCh38:
Chr17:68524902
PRKAR1ACarney complex, type 1Likely benign
(Jun 13, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr17:66508689
GRCh38:
Chr17:68512548
PRKAR1ACarney complex, type 1Uncertain significance
(Dec 24, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr17:66523970
GRCh38:
Chr17:68527829
PRKAR1ACarney complex, type 1Likely benign
(May 15, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr17:66518882
GRCh38:
Chr17:68522741
PRKAR1ACarney complex, type 1Likely benign
(Feb 3, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr17:66518886
GRCh38:
Chr17:68522745
PRKAR1ACarney complex, type 1Likely benign
(Aug 18, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr17:66511702
GRCh38:
Chr17:68515561
PRKAR1ACarney complex, type 1Likely benign
(Oct 25, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr17:66511733
GRCh38:
Chr17:68515592
PRKAR1ACarney complex, type 1Likely benign
(Sep 1, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr17:66519083
GRCh38:
Chr17:68522942
PRKAR1ACarney complex, type 1Likely benign
(Feb 25, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr17:66524034-66524037
GRCh38:
Chr17:68527893-68527896
PRKAR1ACarney complex, type 1Pathogenic
(Sep 30, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr17:66519846
GRCh38:
Chr17:68523705
PRKAR1ACarney complex, type 1Likely benign
(Aug 23, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr17:66521879
GRCh38:
Chr17:68525738
PRKAR1ACarney complex, type 1Likely benign
(Aug 23, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr17:66518878
GRCh38:
Chr17:68522737
PRKAR1ACarney complex, type 1Likely benign
(Aug 22, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr17:66511727
GRCh38:
Chr17:68515586
PRKAR1ACarney complex, type 1Likely benign
(Aug 7, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr17:66525027
GRCh38:
Chr17:68528886
PRKAR1AW262*Carney complex, type 1Pathogenic
(Aug 3, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr17:66519853
GRCh38:
Chr17:68523712
PRKAR1ACarney complex, type 1Likely benign
(Aug 18, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr17:66520220
GRCh38:
Chr17:68524079
PRKAR1ACarney complex, type 1Pathogenic
(Oct 28, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr17:66525118
GRCh38:
Chr17:68528977
PRKAR1AF293ICarney complex, type 1Pathogenic
(Sep 19, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr17:66524999
GRCh38:
Chr17:68528858
PRKAR1ACarney complex, type 1Likely benign
(Jul 14, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr17:66520137
GRCh38:
Chr17:68523996
PRKAR1ACarney complex, type 1Likely benign
(Jul 7, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr17:66520141-66520143
GRCh38:
Chr17:68524000-68524002
PRKAR1ACarney complex, type 1Uncertain significance
(Mar 19, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr17:66526126
GRCh38:
Chr17:68529985
PRKAR1ACarney complex, type 1Likely benign
(Jul 29, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr17:66524060
GRCh38:
Chr17:68527919
PRKAR1ACarney complex, type 1Likely benign
(Jun 14, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr17:66518992
GRCh38:
Chr17:68522851
PRKAR1ACarney complex, type 1Likely benign
(Jun 7, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr17:66526445
GRCh38:
Chr17:68530304
PRKAR1AP334HCarney complex, type 1Uncertain significance
(May 30, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr17:66519053
GRCh38:
Chr17:68522912
PRKAR1AS112PCarney complex, type 1Uncertain significance
(May 16, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr17:66525037
GRCh38:
Chr17:68528896
PRKAR1AT266ACarney complex, type 1Uncertain significance
(May 18, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr17:66525068
GRCh38:
Chr17:68528927
PRKAR1AF276CCarney complex, type 1Uncertain significance
(May 10, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr17:66519883
GRCh38:
Chr17:68523742
PRKAR1ACarney complex, type 1Likely benign
(Oct 2, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr17:66519074
GRCh38:
Chr17:68522933
PRKAR1ACarney complex, type 1Likely benign
(May 12, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr17:66521890
GRCh38:
Chr17:68525749
PRKAR1ACarney complex, type 1Likely benign
(Sep 22, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr17:66526078
GRCh38:
Chr17:68529937
PRKAR1ACarney complex, type 1Likely benign
(Mar 14, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr17:66511690
GRCh38:
Chr17:68515549
PRKAR1ACarney complex, type 1Likely benign
(Aug 31, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr17:66520179
GRCh38:
Chr17:68524038
PRKAR1AS155PCarney complex, type 1Uncertain significance
(May 5, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr17:66511656
GRCh38:
Chr17:68515515
PRKAR1AC39YCarney complex, type 1Uncertain significance
(Dec 29, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr17:66519973
GRCh38:
Chr17:68523832
PRKAR1ACarney complex, type 1Likely benign
(Jun 1, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr17:66508696
GRCh38:
Chr17:68512555
PRKAR1ACarney complex, type 1Uncertain significance
(Jul 14, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr17:66518899
GRCh38:
Chr17:68522758
PRKAR1ACarney complex, type 1, not providedUncertain significance
(Nov 15, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr17:66519893
GRCh38:
Chr17:68523752
PRKAR1AA126TCarney complex, type 1Uncertain significance
(Oct 21, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr17:66526127
GRCh38:
Chr17:68529986
PRKAR1AP320SCarney complex, type 1Uncertain significance
(Dec 21, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr17:66526148
GRCh38:
Chr17:68530007
PRKAR1ACarney complex, type 1Uncertain significance
(Sep 30, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr17:66518987
GRCh38:
Chr17:68522846
PRKAR1AV90MHereditary cancer-predisposing syndrome, Carney complex, type 1Uncertain significance
(Apr 23, 2023)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr17:66524995
GRCh38:
Chr17:68528854
PRKAR1ACarney complex, type 1Likely benign
(Apr 20, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr17:66520225
GRCh38:
Chr17:68524084
PRKAR1ACarney complex, type 1Likely benign
(Oct 1, 2022)
criteria provided, single submitter
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