U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 278

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:91622199-91622201
GRCh38:
Chr7:91992885-91992887
AKAP9E138delLong QT syndrome 11Uncertain significance
(Mar 30, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr7:91729175
GRCh38:
Chr7:92099861
AKAP9R1845G, R3622G, R3630GLong QT syndrome 11Uncertain significance
(Mar 30, 2021)
criteria provided, single submitter
3.
GRCh37:
Chr7:91630474
GRCh38:
Chr7:92001160
AKAP9E415KLong QT syndrome 11Uncertain significance
(Oct 13, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr7:91712781
GRCh38:
Chr7:92083467
AKAP9I1035V, I2812V, I2820VLong QT syndrome 11Uncertain significance
(May 27, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr7:91690641
GRCh38:
Chr7:92061327
AKAP9T105K, T1890KLong QT syndrome 11Uncertain significance
(Apr 1, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr7:91624023
GRCh38:
Chr7:91994709
AKAP9D222GLong QT syndrome 11, Cardiovascular phenotypeUncertain significance
(Mar 30, 2021)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr7:91694715
GRCh38:
Chr7:92065401
AKAP9D2050Y, D265YLong QT syndrome 11Uncertain significance
(Oct 18, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr7:91659235
GRCh38:
Chr7:92029921
AKAP9T1392ILong QT syndrome 11, Long QT syndromeUncertain significance
(Apr 4, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr7:91730252
GRCh38:
Chr7:92100938
AKAP9L1875W, L3652W, L3660WLong QT syndrome 11Uncertain significance
(May 26, 2020)
criteria provided, single submitter
10.
GRCh37:
Chr7:91670153
GRCh38:
Chr7:92040839
AKAP9R1620*Long QT syndrome 11, not providedUncertain significance
(Dec 14, 2021)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr7:91707160
GRCh38:
Chr7:92077846
AKAP9Q2298*, Q2306*, Q521*not provided, Long QT syndrome 11Uncertain significance
(Oct 21, 2021)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr7:91631097-91631098
GRCh38:
Chr7:92001783-92001784
AKAP9R624fsnot provided, Long QT syndrome 11Uncertain significance
(Nov 17, 2021)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr7:91651668
GRCh38:
Chr7:92022354
AKAP9not provided, Long QT syndrome 11Uncertain significance
(Nov 15, 2021)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr7:91641850
GRCh38:
Chr7:92012536
AKAP9Long QT syndrome, Long QT syndrome 11Conflicting interpretations of pathogenicity
(Oct 18, 2021)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr7:91726588
GRCh38:
Chr7:92097274
AKAP9I1654V, I3439V, I3431VCardiovascular phenotype, Long QT syndrome, Long QT syndrome 11
Uncertain significance
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr7:91667946
GRCh38:
Chr7:92038632
AKAP9S1518GInborn genetic diseases, Long QT syndrome, Long QT syndrome 11
Uncertain significance
(May 15, 2023)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr7:91732023
GRCh38:
Chr7:92102709
AKAP9A1953V, A3730V, A3738VCardiovascular phenotype, Long QT syndrome 11, Long QT syndrome
Uncertain significance
(Apr 25, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr7:91623962
GRCh38:
Chr7:91994648
AKAP9Q202ECardiovascular phenotype, Long QT syndrome, Long QT syndrome 11
Uncertain significance
(Dec 18, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr7:91726242
GRCh38:
Chr7:92096928
AKAP9H3315Q, H3323Q, H1538QLong QT syndrome, Long QT syndrome 11Uncertain significance
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr7:91726183
GRCh38:
Chr7:92096869
AKAP9S3296T, S1519T, S3304TLong QT syndrome, Long QT syndrome 11Uncertain significance
(Sep 29, 2021)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr7:91718834
GRCh38:
Chr7:92089520
AKAP9P3117T, P1332T, P3109TCardiovascular phenotype, Long QT syndrome, Long QT syndrome 11
Uncertain significance
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr7:91630265
GRCh38:
Chr7:92000951
AKAP9T345ILong QT syndrome, Cardiovascular phenotype, Long QT syndrome 11
Uncertain significance
(Jan 28, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr7:91726334
GRCh38:
Chr7:92097020
AKAP9E3346G, E1569G, E3354GCardiovascular phenotype, Long QT syndrome 11, Long QT syndrome
Uncertain significance
(Apr 24, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr7:91667742
GRCh38:
Chr7:92038428
AKAP9S1450TLong QT syndrome, Long QT syndrome 11Uncertain significance
(Feb 10, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr7:91651578
GRCh38:
Chr7:92022264
AKAP9M1288ILong QT syndrome, Long QT syndrome 11Uncertain significance
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr7:91643593
GRCh38:
Chr7:92014279
AKAP9I1188TLong QT syndrome, Long QT syndrome 11Uncertain significance
(Mar 18, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr7:91659244
GRCh38:
Chr7:92029930
AKAP9D1395ACardiovascular phenotype, Long QT syndrome, Long QT syndrome 11
Uncertain significance
(Sep 21, 2021)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr7:91727532
GRCh38:
Chr7:92098218
AKAP9Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 11
Uncertain significance
(Aug 31, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr7:91726469
GRCh38:
Chr7:92097155
AKAP9T3399N, T1614N, T3391NLong QT syndrome, Long QT syndrome 11Uncertain significance
(Sep 20, 2021)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr7:91732101
GRCh38:
Chr7:92102787
AKAP9R3756K, R1979K, R3764KCardiovascular phenotype, Long QT syndrome, Long QT syndrome 11
Uncertain significance
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr7:91667944
GRCh38:
Chr7:92038630
AKAP9L1517PLong QT syndrome, Inborn genetic diseases, Long QT syndrome 11
Uncertain significance
(May 15, 2023)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr7:91631599
GRCh38:
Chr7:92002285
AKAP9M790VCardiovascular phenotype, Long QT syndrome, Long QT syndrome 11
Uncertain significance
(May 1, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr7:91727458
GRCh38:
Chr7:92098144
AKAP9I3548T, I3540T, I1763TLong QT syndrome, Long QT syndrome 11Uncertain significance
(Feb 3, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr7:91708660
GRCh38:
Chr7:92079346
AKAP9A620T, A2397T, A2405TCardiovascular phenotype, Long QT syndrome, Long QT syndrome 11
Conflicting interpretations of pathogenicity
(Feb 18, 2022)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr7:91729025
GRCh38:
Chr7:92099711
AKAP9S3580T, S1795T, S3572TCardiovascular phenotype, Long QT syndrome 11, Long QT syndrome
Uncertain significance
(Sep 2, 2021)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr7:91726087
GRCh38:
Chr7:92096773
AKAP9E1487K, E3264K, E3272KLong QT syndrome 11, Long QT syndromeUncertain significance
(Feb 8, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr7:91690610
GRCh38:
Chr7:92061296
AKAP9R1880C, R95CLong QT syndrome 11, Long QT syndromeUncertain significance
(Sep 11, 2021)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr7:91641872
GRCh38:
Chr7:92012558
AKAP9L1150FCardiovascular phenotype, Primary dilated cardiomyopathy, Long QT syndrome 11,
Long QT syndrome
Conflicting interpretations of pathogenicity
(Jun 1, 2023)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr7:91645515
GRCh38:
Chr7:92016201
AKAP9N1229DLong QT syndrome 11, Long QT syndromeUncertain significance
(Oct 25, 2021)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr7:91712606
GRCh38:
Chr7:92083292
AKAP9Long QT syndrome 11, Cardiovascular phenotype, Long QT syndrome
Conflicting interpretations of pathogenicity
(Dec 30, 2021)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr7:91722477
GRCh38:
Chr7:92093163
AKAP9S1357I, S3134I, S3142ILong QT syndrome, Long QT syndrome 11Uncertain significance
(Jul 5, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr7:91708810
GRCh38:
Chr7:92079496
AKAP9I2447V, I2455V, I670VLong QT syndrome 11, Long QT syndromeUncertain significance
(Nov 26, 2021)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr7:91694762
GRCh38:
Chr7:92065448
AKAP9M280I, M2065ILong QT syndrome 11, Cardiovascular phenotype, Long QT syndrome
Uncertain significance
(Aug 3, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr7:91651648
GRCh38:
Chr7:92022334
AKAP9T1312PCardiovascular phenotype, Long QT syndrome 11, Long QT syndrome
Uncertain significance
(Sep 6, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr7:91660862
GRCh38:
Chr7:92031548
AKAP9I1428VCardiovascular phenotype, Long QT syndrome, Long QT syndrome 11
Uncertain significance
(Dec 4, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr7:91712637
GRCh38:
Chr7:92083323
AKAP9I987V, I2764V, I2772VCardiovascular phenotype, Long QT syndrome, Long QT syndrome 11
Conflicting interpretations of pathogenicity
(Apr 3, 2022)
criteria provided, conflicting interpretations
47.
GRCh37:
Chr7:91645574
GRCh38:
Chr7:92016260
AKAP9E1248DInborn genetic diseases, Long QT syndrome 11, Long QT syndrome
Uncertain significance
(Jul 22, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr7:91631594
GRCh38:
Chr7:92002280
AKAP9E788ACardiovascular phenotype, Long QT syndrome, Long QT syndrome 11
Uncertain significance
(Nov 21, 2021)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr7:91690724
GRCh38:
Chr7:92061410
AKAP9S1918G, S133GLong QT syndrome, Long QT syndrome 11Uncertain significance
(Mar 18, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr7:91711928
GRCh38:
Chr7:92082614
AKAP9E2696D, E2704D, E919DLong QT syndrome, Long QT syndrome 11Uncertain significance
(Apr 24, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr7:91624977
GRCh38:
Chr7:91995663
AKAP9Q265ELong QT syndrome, Long QT syndrome 11Uncertain significance
(Jun 9, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr7:91652245
GRCh38:
Chr7:92022931
AKAP9T1357ILong QT syndrome 11, Long QT syndromeUncertain significance
(Nov 29, 2021)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr7:91736684
GRCh38:
Chr7:92107370
AKAP9R2047C, R3824C, R3832CCardiovascular phenotype, Long QT syndrome 11, Long QT syndrome
Uncertain significance
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr7:91735003
GRCh38:
Chr7:92105689
AKAP9L1996S, L3781S, L3773SLong QT syndrome, Long QT syndrome 11, Cardiovascular phenotype
Uncertain significance
(Nov 9, 2021)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr7:91651680
GRCh38:
Chr7:92022366
AKAP9Long QT syndrome, not specified, Long QT syndrome 11
Benign/Likely benign
(Aug 11, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr7:91713017
GRCh38:
Chr7:92083703
AKAP9Long QT syndrome 11, not providedBenign
(Dec 5, 2021)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr7:91713018
GRCh38:
Chr7:92083704
AKAP9Long QT syndrome 11, not providedBenign
(Dec 5, 2021)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr7:91714169
GRCh38:
Chr7:92084855
AKAP9T1131K, T2908K, T2916KLong QT syndrome, Cardiovascular phenotype, Long QT syndrome 11
Uncertain significance
(Sep 28, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr7:91718854
GRCh38:
Chr7:92089540
AKAP9not provided, Long QT syndrome, Long QT syndrome 11
Benign/Likely benign
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr7:91690652
GRCh38:
Chr7:92061338
AKAP9K109E, K1894ECardiovascular phenotype, Long QT syndrome, Long QT syndrome 11
Conflicting interpretations of pathogenicity
(May 8, 2023)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr7:91671344-91671345
GRCh38:
Chr7:92042030-92042031
AKAP9Long QT syndrome 11, Long QT syndrome, not provided
Benign/Likely benign
(Jul 25, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr7:91724504
GRCh38:
Chr7:92095190
AKAP9not provided, Long QT syndrome 11, Long QT syndrome
Benign/Likely benign
(Sep 15, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr7:91652341
GRCh38:
Chr7:92023027
AKAP9Long QT syndrome, Long QT syndrome 11, not provided
Benign/Likely benign
(May 18, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr7:91700199
GRCh38:
Chr7:92070885
AKAP9not provided, Long QT syndrome, Long QT syndrome 11
Benign/Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr7:91731895
GRCh38:
Chr7:92102581
AKAP9not provided, Long QT syndrome, Long QT syndrome 11,
not specified
Benign/Likely benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr7:91695879
GRCh38:
Chr7:92066565
AKAP9not provided, Long QT syndrome 11, not specified,
Long QT syndrome
Benign/Likely benign
(Aug 13, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr7:91603237
GRCh38:
Chr7:91973923
AKAP9Cardiovascular phenotype, Long QT syndrome 11, Long QT syndrome
Likely benign
(Jan 28, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr7:91729174
GRCh38:
Chr7:92099860
AKAP9Cardiovascular phenotype, not provided, Long QT syndrome 11,
Long QT syndrome
Benign/Likely benign
(Jan 17, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr7:91737943
GRCh38:
Chr7:92108629
AKAP9Cardiovascular phenotype, Long QT syndrome 11, Long QT syndrome
Likely benign
(Feb 19, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr7:91732108
GRCh38:
Chr7:92102794
AKAP9Long QT syndrome, not provided, Cardiovascular phenotype,
Long QT syndrome 11
Benign/Likely benign
(Jul 3, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr7:91706237
GRCh38:
Chr7:92076923
AKAP9Cardiovascular phenotype, Long QT syndrome, Long QT syndrome 11
Likely benign
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr7:91630275
GRCh38:
Chr7:92000961
AKAP9Long QT syndrome, Long QT syndrome 11Likely benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr7:91712477
GRCh38:
Chr7:92083163
AKAP9Long QT syndrome 11, Long QT syndromeLikely benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr7:91709436-91709438
GRCh38:
Chr7:92080122-92080124
AKAP9R2656del, R2664del, R879delLong QT syndrome 11, Long QT syndromeUncertain significance
(Oct 28, 2021)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr7:91641805
GRCh38:
Chr7:92012491
AKAP9H1127QLong QT syndrome 11, Inborn genetic diseases, Long QT syndrome
Uncertain significance
(Nov 4, 2021)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr7:91729105
GRCh38:
Chr7:92099791
AKAP9K1821N, K3598N, K3606NCardiovascular phenotype, Long QT syndrome 11, Long QT syndrome
Uncertain significance
(Sep 30, 2021)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr7:91715699
GRCh38:
Chr7:92086385
AKAP9L1276P, L3053P, L3061PLong QT syndrome, Long QT syndrome 11Uncertain significance
(Aug 30, 2021)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr7:91736681
GRCh38:
Chr7:92107367
AKAP9Y2046H, Y3823H, Y3831HLong QT syndrome, Cardiovascular phenotype, Long QT syndrome 11
Uncertain significance
(Mar 7, 2023)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr7:91668030-91668033
GRCh38:
Chr7:92038716-92038719
AKAP9T1547fsLong QT syndrome 11, Long QT syndromeUncertain significance
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr7:91708561
GRCh38:
Chr7:92079247
AKAP9M2364V, M2372V, M587VCardiovascular phenotype, Long QT syndrome 11, Long QT syndrome
Conflicting interpretations of pathogenicity
(Apr 28, 2022)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr7:91713961
GRCh38:
Chr7:92084647
AKAP9S2877L, S1100L, S2885LLong QT syndrome, Long QT syndrome 11, Cardiovascular phenotype
Uncertain significance
(Aug 20, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr7:91726292
GRCh38:
Chr7:92096978
AKAP9P3332L, P1555L, P3340LLong QT syndrome 11, Long QT syndromeUncertain significance
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr7:91646372
GRCh38:
Chr7:92017058
AKAP9E1265KCardiovascular phenotype, Long QT syndrome, Long QT syndrome 11
Uncertain significance
(Jan 25, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr7:91726111
GRCh38:
Chr7:92096797
AKAP9Q1495E, Q3272E, Q3280ELong QT syndrome 11Uncertain significance
(May 3, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr7:91660911
GRCh38:
Chr7:92031597
AKAP9V1444ALong QT syndrome, Long QT syndrome 11, Cardiovascular phenotype
Uncertain significance
(Aug 28, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr7:91630886
GRCh38:
Chr7:92001572
AKAP9A552Vnot provided, Long QT syndrome 11, Long QT syndrome
Uncertain significance
(Sep 28, 2021)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr7:91603187
GRCh38:
Chr7:91973873
AKAP9Q71ELong QT syndrome 11, Long QT syndromeUncertain significance
(Oct 25, 2021)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr7:91667992
GRCh38:
Chr7:92038678
AKAP9S1533NLong QT syndrome 11, Cardiovascular phenotype, Long QT syndrome
Conflicting interpretations of pathogenicity
(Aug 23, 2022)
criteria provided, conflicting interpretations
89.
GRCh37:
Chr7:91732041
GRCh38:
Chr7:92102727
AKAP9G1959A, G3736A, G3744ALong QT syndrome, Long QT syndrome 11, Cardiovascular phenotype
Uncertain significance
(Apr 7, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr7:91714205
GRCh38:
Chr7:92084891
AKAP9R1143Q, R2920Q, R2928QLong QT syndrome, Inborn genetic diseases, Long QT syndrome 11
Conflicting interpretations of pathogenicity
(Apr 13, 2022)
criteria provided, conflicting interpretations
91.
GRCh37:
Chr7:91727048
GRCh38:
Chr7:92097734
AKAP9R1731K, R3508K, R3516KLong QT syndrome, Long QT syndrome 11Uncertain significance
(Sep 9, 2021)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr7:91694665
GRCh38:
Chr7:92065351
AKAP9Q248R, Q2033RCardiovascular phenotype, Long QT syndrome, Long QT syndrome 11
Uncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr7:91706232
GRCh38:
Chr7:92076918
AKAP9V2218I, V2226I, V441ICardiovascular phenotype, Long QT syndrome 11, Long QT syndrome
Uncertain significance
(Feb 20, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr7:91708417
GRCh38:
Chr7:92079103
AKAP9I2316V, I2324V, I539VLong QT syndrome, Long QT syndrome 11, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Apr 20, 2023)
criteria provided, conflicting interpretations
95.
GRCh37:
Chr7:91660908
GRCh38:
Chr7:92031594
AKAP9E1443VLong QT syndrome 11, Cardiovascular phenotype, Long QT syndrome
Uncertain significance
(Jul 13, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr7:91632530
GRCh38:
Chr7:92003216
AKAP9N1100SCardiovascular phenotype, Long QT syndrome, Long QT syndrome 11
Conflicting interpretations of pathogenicity
(Nov 3, 2021)
criteria provided, conflicting interpretations
97.
GRCh37:
Chr7:91630457
GRCh38:
Chr7:92001143
AKAP9H409PCardiovascular phenotype, Long QT syndrome, Long QT syndrome 11
Uncertain significance
(Feb 9, 2022)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr7:91714998
GRCh38:
Chr7:92085684
AKAP9E1223K, E3008K, E3000KCardiovascular phenotype, Long QT syndrome, Long QT syndrome 11
Uncertain significance
(Oct 2, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr7:91735012
GRCh38:
Chr7:92105698
AKAP9R3784Q, R1999Q, R3776QLong QT syndrome 11, Long QT syndromeUncertain significance
(Sep 29, 2021)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr7:91682138
GRCh38:
Chr7:92052824
AKAP9Q1823ELong QT syndrome, Long QT syndrome 11, Cardiovascular phenotype
Uncertain significance
(Jun 4, 2022)
criteria provided, multiple submitters, no conflicts
Format
Items per page
Sort by
Choose Destination