| - GRCh37:
- Chr7:150648662
- GRCh38:
- Chr7:150951574
| KCNH2 | I267fs, I607fs | Congenital long QT syndrome | Pathogenic (Oct 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111566
- GRCh38:
- Chr19:46608309
| CALM3 | | Long QT syndrome 1 | Likely benign (Sep 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111557
- GRCh38:
- Chr19:46608300
| CALM3 | | Long QT syndrome 1 | Likely benign (Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112093
- GRCh38:
- Chr19:46608836
| CALM3 | | Long QT syndrome 1 | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112093-47112094
- GRCh38:
- Chr19:46608836-46608837
| CALM3 | | Long QT syndrome 1 | Likely benign (Nov 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389773
- GRCh38:
- Chr2:47162634
| CALM2 | | Long QT syndrome 1 | Likely benign (Sep 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47388947
- GRCh38:
- Chr2:47161808
| CALM2 | | Cardiovascular phenotype, Long QT syndrome 1 | Likely benign (Aug 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47389779
- GRCh38:
- Chr2:47162640
| CALM2 | | Long QT syndrome 1 | Likely benign (Oct 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389449
- GRCh38:
- Chr2:47162310
| CALM2 | | Long QT syndrome 1 | Likely benign (Nov 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47387936
- GRCh38:
- Chr2:47160797
| CALM2 | | Long QT syndrome 1 | Likely benign (Jun 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389541-47389560
- GRCh38:
- Chr2:47162402-47162421
| CALM2 | | Long QT syndrome 1 | Likely benign (Aug 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389671
- GRCh38:
- Chr2:47162532
| CALM2 | | Cardiovascular phenotype, Long QT syndrome 1 | Likely benign (Jun 24, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47111833
- GRCh38:
- Chr19:46608576
| CALM3 | | Cardiovascular phenotype, Long QT syndrome 1 | Likely benign (Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47112183
- GRCh38:
- Chr19:46608926
| CALM3 | | Cardiovascular phenotype, Long QT syndrome 1 | Likely benign (Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47112404
- GRCh38:
- Chr19:46609147
| CALM3 | | Cardiovascular phenotype, Long QT syndrome 1 | Likely benign (Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47109079
- GRCh38:
- Chr19:46605822
| CALM3 | | Long QT syndrome 1 | Likely benign (Mar 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47388886
- GRCh38:
- Chr2:47161747
| CALM2 | G133S, G181S, G97S | Long QT syndrome 1 | Likely pathogenic (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47397874
- GRCh38:
- Chr2:47170735
| CALM2 | | Long QT syndrome 1 | Uncertain significance (Sep 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112212
- GRCh38:
- Chr19:46608955
| CALM3 | D132V, D96V | Long QT syndrome 1 | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47388859
- GRCh38:
- Chr2:47161720
| CALM2 | | Long QT syndrome 1 | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389507
- GRCh38:
- Chr2:47162368
| CALM2 | E116A, E68A, E32A | Long QT syndrome 1 | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47109117
- GRCh38:
- Chr19:46605860
| CALM3 | | Cardiovascular phenotype, Long QT syndrome 1 | Uncertain significance (Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47388866-47388867
- GRCh38:
- Chr2:47161727-47161728
| CALM2 | Y103*, Y139*, Y187* | Long QT syndrome 1 | Uncertain significance (May 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389732
- GRCh38:
- Chr2:47162593
| CALM2 | T35I, T83I | Cardiovascular phenotype, not provided, Long QT syndrome 1
| Uncertain significance (Jul 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47112377-47112378
- GRCh38:
- Chr19:46609120-46609121
| CALM3 | | Long QT syndrome 1 | Uncertain significance (Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47388964
- GRCh38:
- Chr2:47161825
| CALM2 | R107C, R71C, R155C | Long QT syndrome 1, Cardiovascular phenotype | Uncertain significance (Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47388888
- GRCh38:
- Chr2:47161749
| CALM2 | D132G, D96G, D180G | Long QT syndrome 1 | Pathogenic (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389420
- GRCh38:
- Chr2:47162281
| CALM2 | | Cardiovascular phenotype, Long QT syndrome 1 | Uncertain significance (May 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38655522
- GRCh38:
- Chr3:38614031
| SCN5A | S216L | Congenital long QT syndrome, Cardiac arrhythmia | Benign/Likely benign (Mar 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47389463
- GRCh38:
- Chr2:47162324
| CALM2 | E83K, E47K, E131K | Long QT syndrome 1 | Uncertain significance (Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111735
- GRCh38:
- Chr19:46608478
| CALM3 | | Long QT syndrome 16, Long QT syndrome 1 | Uncertain significance (Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47388894
- GRCh38:
- Chr2:47161755
| CALM2 | D130G, D178G, D94G | Long QT syndrome 1 | Likely pathogenic (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111563
- GRCh38:
- Chr19:46608306
| CALM3 | | Long QT syndrome 1 | Likely benign (Apr 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47389713
- GRCh38:
- Chr2:47162574
| CALM2 | | Long QT syndrome 1 | Likely benign (Apr 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47403571
- GRCh38:
- Chr2:47176432
| CALM2 | | Long QT syndrome 1 | Likely benign (Apr 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111444
- GRCh38:
- Chr19:46608187
| CALM3 | | Long QT syndrome 1 | Likely benign (Dec 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:150648171
- GRCh38:
- Chr7:150951083
| KCNH2 | I322fs, I662fs | Congenital long QT syndrome, Long QT syndrome | Pathogenic/Likely pathogenic (Apr 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:2797286
- GRCh38:
- Chr11:2776056
| KCNQ1 | | Congenital long QT syndrome | Likely pathogenic (Oct 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2797189
- GRCh38:
- Chr11:2775959
| KCNQ1 | | Congenital long QT syndrome, Long QT syndrome | Pathogenic/Likely pathogenic (Aug 1, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47111466
- GRCh38:
- Chr19:46608209
| CALM3 | A16G | Long QT syndrome 1 | Uncertain significance (Jun 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112136
- GRCh38:
- Chr19:46608879
| CALM3 | R107C, R71C | Long QT syndrome 1 | Uncertain significance (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47111550
- GRCh38:
- Chr19:46608293
| CALM3 | P44L, P8L | Long QT syndrome 1 | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2592634
- GRCh38:
- Chr11:2571404
| KCNQ1 | | not provided, Long QT syndrome, Congenital long QT syndrome
| Pathogenic/Likely pathogenic (Apr 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47388904
- GRCh38:
- Chr2:47161765
| CALM2 | R91G, R127G, R175G | Long QT syndrome 1 | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47388869
- GRCh38:
- Chr2:47161730
| CALM2 | N102K, N138K, N186K | Long QT syndrome 1 | Uncertain significance (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47388997
- GRCh38:
- Chr2:47161858
| CALM2 | D144Y, D60Y, D96Y | Long QT syndrome 1 | Pathogenic (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:2690777
- GRCh38:
- Chr12:2581611
| CACNA1C | N639K, N636K | Long QT syndrome, Congenital long QT syndrome, Timothy syndrome
| Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47389540
- GRCh38:
- Chr2:47162401
| CALM2 | | Long QT syndrome 1, not specified | Likely benign (Nov 20, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47112171
- GRCh38:
- Chr19:46608914
| CALM3 | | Long QT syndrome 1, not provided, Cardiovascular phenotype
| Likely benign (Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47112382
- GRCh38:
- Chr19:46609125
| CALM3 | E141G, E105G | Long QT syndrome 1 | Likely pathogenic (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112126
- GRCh38:
- Chr19:46608869
| CALM3 | | Cardiovascular phenotype, not provided, Long QT syndrome 1
| Likely benign (May 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47388935
- GRCh38:
- Chr2:47161796
| CALM2 | | Long QT syndrome 1, Cardiovascular phenotype, not specified
| Likely benign (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:47389539
- GRCh38:
- Chr2:47162400
| CALM2 | | Long QT syndrome 1 | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:2593319
- Chr11:2608920
- GRCh38:
- Chr11:2572089
- Chr11:2587690
| KCNQ1, KCNQ1 | V254M, V127M, V164M, V417M, V290M, V237M, V385M, V327M | Long QT syndrome 1 | Pathogenic (Mar 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr3:38645420
- Chr3:38645558
- GRCh38:
- Chr3:38603929
- Chr3:38604067
| SCN5A, SCN5A | H558R, T512I | Progressive familial heart block, type 1A | Pathogenic (Apr 15, 2008) | no assertion criteria provided |
| - GRCh37:
- Chr19:47112141
- GRCh38:
- Chr19:46608884
| CALM3 | | Cardiovascular phenotype, not specified, Long QT syndrome 1
| Likely benign (Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47109104
- GRCh38:
- Chr19:46605847
| CALM3 | | Long QT syndrome 1 | Likely benign (Dec 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:47387950-47387952
- GRCh38:
- Chr2:47160811-47160813
| CALM2 | | not provided, Long QT syndrome 1 | Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:47112103
- GRCh38:
- Chr19:46608846
| CALM3 | D96H, D60H | Long QT syndrome 1 | Pathogenic (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:47112242
- GRCh38:
- Chr19:46608985
| CALM3 | | Long QT syndrome 16, Long QT syndrome 1 | Uncertain significance (Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr21:35884576
- GRCh38:
- Chr21:34512278
| KCNE1 | | Congenital long QT syndrome, Long QT syndrome, Jervell and Lange-Nielsen syndrome
| Likely benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91739967
- GRCh38:
- Chr7:92110653
| AKAP9 | | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91739935
- GRCh38:
- Chr7:92110621
| AKAP9 | | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91739589
- GRCh38:
- Chr7:92110275
| AKAP9 | | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91739552
- GRCh38:
- Chr7:92110238
| AKAP9 | | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91737810
- GRCh38:
- Chr7:92108496
| AKAP9 | Y3850C, Y3842C, Y2065C | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91734996
- GRCh38:
- Chr7:92105682
| AKAP9 | K3779Q, K3771Q, K1994Q | Congenital long QT syndrome, Long QT syndrome | Uncertain significance (Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91734981
- GRCh38:
- Chr7:92105667
| AKAP9 | | not provided, Congenital long QT syndrome, Long QT syndrome, Long QT syndrome 11 | Benign/Likely benign (Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91732039
- GRCh38:
- Chr7:92102725
| AKAP9 | M3743I, M3735I, M1958I | Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype
| Conflicting interpretations of pathogenicity (Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91730197
- GRCh38:
- Chr7:92100883
| AKAP9 | A3642S, A3634S, A1857S | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91730174
- GRCh38:
- Chr7:92100860
| AKAP9 | S3634C, S3626C, S1849C | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91729132
- GRCh38:
- Chr7:92099818
| AKAP9 | | not provided, Cardiovascular phenotype, Congenital long QT syndrome, Long QT syndrome, Long QT syndrome 11 | Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91727525
- GRCh38:
- Chr7:92098211
| AKAP9 | | Congenital long QT syndrome, Cardiovascular phenotype, Long QT syndrome
| Conflicting interpretations of pathogenicity (Nov 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91727408
- GRCh38:
- Chr7:92098094
| AKAP9 | | Congenital long QT syndrome, Long QT syndrome 11, not provided, not specified, Long QT syndrome | Benign/Likely benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91726494
- GRCh38:
- Chr7:92097180
| AKAP9 | | Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype
| Conflicting interpretations of pathogenicity (Jul 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91726380
- GRCh38:
- Chr7:92097066
| AKAP9 | | Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype
| Conflicting interpretations of pathogenicity (Aug 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91718853
- GRCh38:
- Chr7:92089539
| AKAP9 | | Congenital long QT syndrome, not provided, Long QT syndrome
| Conflicting interpretations of pathogenicity (Sep 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91718714
- GRCh38:
- Chr7:92089400
| AKAP9 | A3077T, A3069T, A1292T | Congenital long QT syndrome, Long QT syndrome | Uncertain significance (Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91718693
- GRCh38:
- Chr7:92089379
| AKAP9 | | Congenital long QT syndrome, Long QT syndrome, not specified
| Conflicting interpretations of pathogenicity (Sep 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91715687
- GRCh38:
- Chr7:92086373
| AKAP9 | A3057E, A3049E, A1272E | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91714971
- GRCh38:
- Chr7:92085657
| AKAP9 | T2999A, T2991A, T1214A | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91712847
- GRCh38:
- Chr7:92083533
| AKAP9 | M2842V, M2834V, M1057V | Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype
| Uncertain significance (Apr 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91712478
- GRCh38:
- Chr7:92083164
| AKAP9 | | Congenital long QT syndrome, Long QT syndrome | Conflicting interpretations of pathogenicity (Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91709003
- GRCh38:
- Chr7:92079689
| AKAP9 | Y2519C, Y2511C, Y734C | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91708381
- GRCh38:
- Chr7:92079067
| AKAP9 | | Long QT syndrome, Congenital long QT syndrome | Conflicting interpretations of pathogenicity (Aug 3, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91707140
- GRCh38:
- Chr7:92077826
| AKAP9 | E2299G, E2291G, E514G | Long QT syndrome 11, Long QT syndrome, Cardiovascular phenotype, Congenital long QT syndrome | Uncertain significance (Mar 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91707132
- GRCh38:
- Chr7:92077818
| AKAP9 | | Congenital long QT syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr7:91699389
- GRCh38:
- Chr7:92070075
| AKAP9 | S2126R, S341R | Cardiovascular phenotype, Congenital long QT syndrome | Uncertain significance (Aug 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91691718
- GRCh38:
- Chr7:92062404
| AKAP9 | | Long QT syndrome, Cardiovascular phenotype, Congenital long QT syndrome
| Conflicting interpretations of pathogenicity (Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91690697
- GRCh38:
- Chr7:92061383
| AKAP9 | A1909T, A124T | Congenital long QT syndrome, Cardiovascular phenotype, Long QT syndrome
| Conflicting interpretations of pathogenicity (Feb 13, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91690694
- GRCh38:
- Chr7:92061380
| AKAP9 | R1908G, R123G | Congenital long QT syndrome, Cardiovascular phenotype, Long QT syndrome
| Conflicting interpretations of pathogenicity (Feb 25, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91682167
- GRCh38:
- Chr7:92052853
| AKAP9 | | Long QT syndrome, Long QT syndrome 11, Cardiovascular phenotype, Congenital long QT syndrome | Conflicting interpretations of pathogenicity (Apr 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91674386
- GRCh38:
- Chr7:92045072
| AKAP9 | A1743T | Long QT syndrome, Cardiovascular phenotype, Congenital long QT syndrome
| Uncertain significance (Aug 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91667926-91667928
- GRCh38:
- Chr7:92038612-92038614
| AKAP9 | E1513del | Long QT syndrome 11, Long QT syndrome, Cardiovascular phenotype, Congenital long QT syndrome | Uncertain significance (Sep 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91660873
- GRCh38:
- Chr7:92031559
| AKAP9 | | Congenital long QT syndrome, Long QT syndrome, Cardiovascular phenotype
| Conflicting interpretations of pathogenicity (Oct 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91660833
- GRCh38:
- Chr7:92031519
| AKAP9 | G1418D | Long QT syndrome 11, Long QT syndrome, Cardiovascular phenotype, Congenital long QT syndrome | Conflicting interpretations of pathogenicity (Jan 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91659224
- GRCh38:
- Chr7:92029910
| AKAP9 | | Long QT syndrome, Cardiovascular phenotype, Congenital long QT syndrome
| Conflicting interpretations of pathogenicity (Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:91651646
- GRCh38:
- Chr7:92022332
| AKAP9 | M1311K | Congenital long QT syndrome, Cardiovascular phenotype | Uncertain significance (Dec 8, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91651588
- GRCh38:
- Chr7:92022274
| AKAP9 | F1292L | Congenital long QT syndrome, Long QT syndrome | Uncertain significance (Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:91645538
- GRCh38:
- Chr7:92016224
| AKAP9 | E1236D | Congenital long QT syndrome, Long QT syndrome | Uncertain significance (Oct 27, 2021) | criteria provided, multiple submitters, no conflicts |