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Links from MedGen

Items: 1 to 100 of 1009

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:22063193
GRCh38:
Chr12:21910259
ABCC9Dilated cardiomyopathy 1OLikely benign
(Jan 28, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr12:21958108-22089608
ABCC9Dilated cardiomyopathy 1OUncertain significance
(Aug 12, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr12:22059040-22063266
ABCC9Dilated cardiomyopathy 1OUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr12:21971064-21971205
ABCC9Dilated cardiomyopathy 1OUncertain significance
(Mar 23, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr12:21918657-22017431
KCNJ8, ABCC9Brugada syndrome, Dilated cardiomyopathy 1OUncertain significance
(Oct 22, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr12:22047049
GRCh38:
Chr12:21894115
ABCC9Dilated cardiomyopathy 1OLikely benign
(Feb 8, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr12:22035811
GRCh38:
Chr12:21882877
ABCC9Dilated cardiomyopathy 1OLikely benign
(Aug 23, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr12:22005445
GRCh38:
Chr12:21852511
ABCC9Dilated cardiomyopathy 1OLikely benign
(Sep 3, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr12:21982013
GRCh38:
Chr12:21829079
ABCC9Dilated cardiomyopathy 1OLikely benign
(Aug 31, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr12:22089584
GRCh38:
Chr12:21936650
ABCC9N9HDilated cardiomyopathy 1OUncertain significance
(Oct 10, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr12:22015955
GRCh38:
Chr12:21863021
ABCC9Dilated cardiomyopathy 1OLikely benign
(Sep 23, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr12:22013954
GRCh38:
Chr12:21861020
ABCC9P792L, P503LDilated cardiomyopathy 1OUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr12:22068598
GRCh38:
Chr12:21915664
ABCC9Dilated cardiomyopathy 1OUncertain significance
(Oct 20, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr12:21998786
GRCh38:
Chr12:21845852
ABCC9Dilated cardiomyopathy 1OLikely benign
(Oct 13, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr12:21968825
GRCh38:
Chr12:21815891
ABCC9P1299S, P1010SDilated cardiomyopathy 1OUncertain significance
(Apr 11, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr12:22040812
GRCh38:
Chr12:21887878
ABCC9R332L, R620LDilated cardiomyopathy 1OUncertain significance
(May 8, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr12:22069913
GRCh38:
Chr12:21916979
ABCC9N177KDilated cardiomyopathy 1OUncertain significance
(Jul 1, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr12:22035796
GRCh38:
Chr12:21882862
ABCC9Dilated cardiomyopathy 1OLikely benign
(Oct 9, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr12:22086802
GRCh38:
Chr12:21933868
ABCC9F66LDilated cardiomyopathy 1OUncertain significance
(Mar 5, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr12:21958194
GRCh38:
Chr12:21805260
ABCC9G1522CDilated cardiomyopathy 1OUncertain significance
(Apr 29, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr12:22086706
GRCh38:
Chr12:21933772
ABCC9Dilated cardiomyopathy 1OLikely benign
(Sep 13, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr12:21958248
GRCh38:
Chr12:21805314
ABCC9Dilated cardiomyopathy 1OUncertain significance
(Feb 8, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr12:22005297
GRCh38:
Chr12:21852363
ABCC9Dilated cardiomyopathy 1OUncertain significance
(Sep 19, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr12:22015871
GRCh38:
Chr12:21862937
ABCC9Dilated cardiomyopathy 1OLikely benign
(Mar 11, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr12:22065997
GRCh38:
Chr12:21913063
ABCC9K274EDilated cardiomyopathy 1OUncertain significance
(Mar 17, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr12:22017429
GRCh38:
Chr12:21864495
ABCC9Dilated cardiomyopathy 1OUncertain significance
(Mar 8, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr12:21958915
GRCh38:
Chr12:21805981
ABCC9Dilated cardiomyopathy 1OLikely benign
(Aug 22, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr12:22086768
GRCh38:
Chr12:21933834
ABCC9A78TCardiovascular phenotype, Dilated cardiomyopathy 1OUncertain significance
(Mar 10, 2023)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr12:21998531
GRCh38:
Chr12:21845597
ABCC9Dilated cardiomyopathy 1OUncertain significance
(Dec 29, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr12:21998519
GRCh38:
Chr12:21845585
ABCC9Dilated cardiomyopathy 1OLikely benign
(Aug 27, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr12:21960262
GRCh38:
Chr12:21807328
ABCC9Dilated cardiomyopathy 1OLikely benign
(Jun 7, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr12:21959010-21959011
GRCh38:
Chr12:21806076-21806077
ABCC9Dilated cardiomyopathy 1OLikely benign
(Apr 9, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr12:22017386
GRCh38:
Chr12:21864452
ABCC9E454Q, E742QDilated cardiomyopathy 1OUncertain significance
(Dec 17, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr12:22028618
GRCh38:
Chr12:21875684
ABCC9Dilated cardiomyopathy 1OLikely benign
(Jun 14, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr12:21960432
GRCh38:
Chr12:21807498
ABCC9Dilated cardiomyopathy 1OLikely benign
(Jun 25, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr12:22060992
GRCh38:
Chr12:21908058
ABCC9Dilated cardiomyopathy 1OLikely benign
(Apr 30, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr12:21982000-21982001
GRCh38:
Chr12:21829066-21829067
ABCC9Dilated cardiomyopathy 1OBenign
(Mar 31, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr12:22070035
GRCh38:
Chr12:21917101
ABCC9Dilated cardiomyopathy 1OLikely benign
(May 11, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr12:22063192
GRCh38:
Chr12:21910258
ABCC9E407fs, E119fsDilated cardiomyopathy 1OUncertain significance
(May 25, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr12:21971162
GRCh38:
Chr12:21818228
ABCC9Dilated cardiomyopathy 1OLikely benign
(Mar 20, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr12:22001200
GRCh38:
Chr12:21848266
ABCC9Dilated cardiomyopathy 1OLikely benign
(Feb 19, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr12:22017370
GRCh38:
Chr12:21864436
ABCC9Dilated cardiomyopathy 1OUncertain significance
(May 19, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr12:21971201
GRCh38:
Chr12:21818267
ABCC9Dilated cardiomyopathy 1OLikely benign
(Jan 28, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr12:22015911
GRCh38:
Chr12:21862977
ABCC9F483S, F772SDilated cardiomyopathy 1OUncertain significance
(Aug 1, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr12:22005353
GRCh38:
Chr12:21852419
ABCC9Dilated cardiomyopathy 1OLikely benign
(Apr 11, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr12:21997498
GRCh38:
Chr12:21844564
ABCC9Dilated cardiomyopathy 1OLikely benign
(Dec 31, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr12:22063781
GRCh38:
Chr12:21910847
ABCC9Dilated cardiomyopathy 1OLikely benign
(Aug 12, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr12:22001081
GRCh38:
Chr12:21848147
ABCC9Dilated cardiomyopathy 1OLikely benign
(Sep 28, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr12:22078996
GRCh38:
Chr12:21926062
ABCC9R96WDilated cardiomyopathy 1OUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr12:21965047
GRCh38:
Chr12:21812113
ABCC9H1094Y, H1383YDilated cardiomyopathy 1OUncertain significance
(Apr 24, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr12:22089521
GRCh38:
Chr12:21936587
ABCC9N30DDilated cardiomyopathy 1OUncertain significance
(Feb 18, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr12:21997493
GRCh38:
Chr12:21844559
ABCC9Dilated cardiomyopathy 1OUncertain significance
(Apr 5, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr12:22069858
GRCh38:
Chr12:21916924
ABCC9Dilated cardiomyopathy 1OLikely benign
(Jun 21, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr12:22017411
GRCh38:
Chr12:21864477
ABCC9Dilated cardiomyopathy 1OUncertain significance
(Jan 19, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr12:21958260-21958264
GRCh38:
Chr12:21805326-21805330
ABCC9Dilated cardiomyopathy 1OLikely benign
(Sep 28, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr12:21995244
GRCh38:
Chr12:21842310
ABCC9Dilated cardiomyopathy 1OUncertain significance
(Dec 18, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr12:21991115
GRCh38:
Chr12:21838181
ABCC9Dilated cardiomyopathy 1OLikely benign
(Sep 1, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr12:21997462
GRCh38:
Chr12:21844528
ABCC9Dilated cardiomyopathy 1OLikely benign
(Apr 23, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr12:22015867
GRCh38:
Chr12:21862933
ABCC9Dilated cardiomyopathy 1OLikely benign
(Jul 4, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr12:22028620
GRCh38:
Chr12:21875686
ABCC9T687I, T399IDilated cardiomyopathy 1OUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr12:22048261
GRCh38:
Chr12:21895327
ABCC9Dilated cardiomyopathy 1OLikely benign
(Oct 13, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr12:22012615
GRCh38:
Chr12:21859681
ABCC9Dilated cardiomyopathy 1OLikely benign
(Feb 9, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr12:22012509
GRCh38:
Chr12:21859575
ABCC9Dilated cardiomyopathy 1OLikely benign
(Sep 15, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr12:22012501
GRCh38:
Chr12:21859567
ABCC9Dilated cardiomyopathy 1OLikely benign
(Aug 7, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr12:21962847
GRCh38:
Chr12:21809913
ABCC9Dilated cardiomyopathy 1OLikely benign
(Jun 22, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr12:21981971
GRCh38:
Chr12:21829037
ABCC9R908L, R1197LDilated cardiomyopathy 1OUncertain significance
(Apr 18, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr12:21959013
GRCh38:
Chr12:21806079
ABCC9Dilated cardiomyopathy 1OLikely benign
(Aug 28, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr12:22028652
GRCh38:
Chr12:21875718
ABCC9Dilated cardiomyopathy 1OLikely benign
(Mar 14, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr12:21960321
GRCh38:
Chr12:21807387
ABCC9L1470F, L1181FDilated cardiomyopathy 1OUncertain significance
(Apr 30, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr12:21981994
GRCh38:
Chr12:21829060
ABCC9Dilated cardiomyopathy 1OUncertain significance
(Apr 25, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr12:21997793
GRCh38:
Chr12:21844859
ABCC9Dilated cardiomyopathy 1OLikely benign
(May 1, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr12:21997789
GRCh38:
Chr12:21844855
ABCC9T1053P, T764PDilated cardiomyopathy 1OUncertain significance
(Jul 2, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr12:22028655
GRCh38:
Chr12:21875721
ABCC9Dilated cardiomyopathy 1OLikely benign
(Apr 21, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr12:21995332-21995333
GRCh38:
Chr12:21842398-21842399
ABCC9Dilated cardiomyopathy 1OUncertain significance
(Apr 20, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr12:22001134
GRCh38:
Chr12:21848200
ABCC9R939Q, R650QDilated cardiomyopathy 1OUncertain significance
(Oct 19, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr12:21991021
GRCh38:
Chr12:21838087
ABCC9R1186P, R897PDilated cardiomyopathy 1OUncertain significance
(Apr 17, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr12:21967636
GRCh38:
Chr12:21814702
ABCC9Dilated cardiomyopathy 1OLikely benign
(Sep 27, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr12:22013998
GRCh38:
Chr12:21861064
ABCC9Dilated cardiomyopathy 1OLikely benign
(Apr 11, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr12:21960388
GRCh38:
Chr12:21807454
ABCC9Dilated cardiomyopathy 1OLikely benign
(Apr 11, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr12:22063245
GRCh38:
Chr12:21910311
ABCC9A101V, A389VDilated cardiomyopathy 1OUncertain significance
(Apr 1, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr12:21958212
GRCh38:
Chr12:21805278
ABCC9V1516IDilated cardiomyopathy 1OUncertain significance
(Oct 18, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr12:21995230
GRCh38:
Chr12:21842296
ABCC9Dilated cardiomyopathy 1OLikely benign
(Mar 21, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr12:22063212
GRCh38:
Chr12:21910278
ABCC9T400M, T112MDilated cardiomyopathy 1OUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr12:22063074
GRCh38:
Chr12:21910140
ABCC9Dilated cardiomyopathy 1OLikely benign
(Mar 14, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr12:22001159
GRCh38:
Chr12:21848225
ABCC9T642A, T931ADilated cardiomyopathy 1OUncertain significance
(Mar 13, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr12:22016005-22016007
GRCh38:
Chr12:21863071-21863073
ABCC9Dilated cardiomyopathy 1OLikely benign
(Mar 15, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr12:22040807
GRCh38:
Chr12:21887873
ABCC9G622R, G334RDilated cardiomyopathy 1OUncertain significance
(Mar 11, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr12:22063922
GRCh38:
Chr12:21910988
ABCC9Dilated cardiomyopathy 1OUncertain significance
(Mar 10, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr12:22086739
GRCh38:
Chr12:21933805
ABCC9Dilated cardiomyopathy 1OLikely benign
(Jul 29, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr12:21970153
GRCh38:
Chr12:21817219
ABCC9T998I, T1287IDilated cardiomyopathy 1OUncertain significance
(Mar 3, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr12:22078993
GRCh38:
Chr12:21926059
ABCC9R97GDilated cardiomyopathy 1OUncertain significance
(Mar 2, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr12:21970105
GRCh38:
Chr12:21817171
ABCC9Dilated cardiomyopathy 1OLikely benign
(Feb 6, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr12:21997410
GRCh38:
Chr12:21844476
ABCC9Dilated cardiomyopathy 1OLikely benign
(Jan 19, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr12:22040826
GRCh38:
Chr12:21887892
ABCC9Dilated cardiomyopathy 1OLikely benign
(Jan 28, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr12:22063755
GRCh38:
Chr12:21910821
ABCC9Dilated cardiomyopathy 1OUncertain significance
(Jan 28, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr12:22065840
GRCh38:
Chr12:21912906
ABCC9N38S, N326SDilated cardiomyopathy 1OUncertain significance
(Jul 30, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr12:21998643
GRCh38:
Chr12:21845709
ABCC9M708T, M997TDilated cardiomyopathy 1OUncertain significance
(Feb 9, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr12:21998720
GRCh38:
Chr12:21845786
ABCC9M682I, M971IDilated cardiomyopathy 1OUncertain significance
(Sep 13, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr12:22001196
GRCh38:
Chr12:21848262
ABCC9Dilated cardiomyopathy 1OBenign
(Jun 20, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr12:22086703
GRCh38:
Chr12:21933769
ABCC9Dilated cardiomyopathy 1OLikely benign
(Jun 27, 2022)
criteria provided, single submitter
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