AKAP9 (A-kinase anchoring protein 9) - Rat Genome Database

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Gene: AKAP9 (A-kinase anchoring protein 9) Homo sapiens
Analyze
Symbol: AKAP9
Name: A-kinase anchoring protein 9
RGD ID: 1349720
HGNC Page HGNC:379
Description: Enables several functions, including potassium channel regulator activity; protein kinase A regulatory subunit binding activity; and transmembrane transporter binding activity. Involved in several processes, including cellular response to cAMP; regulation of heart contraction; and regulation of organelle organization. Located in Golgi stack; centrosome; and cis-Golgi network. Part of voltage-gated potassium channel complex. Is active in glutamatergic synapse. Implicated in long QT syndrome 11.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: A kinase (PRKA) anchor protein (yotiao) 9; A kinase (PRKA) anchor protein 9; A-kinase anchor protein 350 kDa; A-kinase anchor protein 450 kDa; A-kinase anchor protein 9; AKAP 120-like protein; AKAP-9; AKAP350; AKAP450; AKAP9-BRAF fusion protein; centrosome- and Golgi-localized PKN-associated protein; centrosome- and golgi-localized protein kinase N-associated protein; CG-NAP; HYPERION; KIAA0803; kinase N-associated protein; LQT11; MU-RMS-40.16A; PPP1R45; PRKA9; protein kinase A anchoring protein 9; protein phosphatase 1, regulatory subunit 45; YOTIAO
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38791,940,862 - 92,110,673 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl791,940,840 - 92,110,673 (+)EnsemblGRCh38hg38GRCh38
GRCh37791,570,176 - 91,739,987 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36791,408,128 - 91,577,925 (+)NCBINCBI36Build 36hg18NCBI36
Build 34791,214,842 - 91,384,640NCBI
Celera786,274,770 - 86,444,535 (+)NCBICelera
Cytogenetic Map7q21.2NCBI
HuRef786,177,732 - 86,347,418 (+)NCBIHuRef
CHM1_1791,500,226 - 91,670,057 (+)NCBICHM1_1
T2T-CHM13v2.0793,182,145 - 93,351,954 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2790,900,316 - 91,069,225 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
1,10-phenanthroline  (EXP)
1,2-dimethylhydrazine  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,6-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
3-chloropropane-1,2-diol  (ISO)
8-Br-cAMP  (EXP)
acetazolamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (ISO)
bisphenol F  (EXP)
Brodifacoum  (ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (EXP,ISO)
clorgyline  (EXP)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
coumarin 460  (EXP)
cyclosporin A  (EXP)
cyproconazole  (ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
emetine  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenthion  (ISO)
finasteride  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
ketamine  (ISO)
menadione  (EXP)
methapyrilene  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-nitrosodiethylamine  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
PCB138  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
permethrin  (ISO)
phenethyl caffeate  (ISO)
phenobarbital  (ISO)
pirinixic acid  (EXP)
progesterone  (EXP)
propiconazole  (ISO)
resveratrol  (EXP,ISO)
rotenone  (ISO)
sarin  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
succimer  (ISO)
sulindac  (ISO)
tamibarotene  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloroethene  (ISO)
thimerosal  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. A-kinase anchoring proteins: from protein complexes to physiology and disease. Carnegie GK, etal., IUBMB Life. 2009 Apr;61(4):394-406.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Yotiao, a novel protein of neuromuscular junction and brain that interacts with specific splice variants of NMDA receptor subunit NR1. Lin JW, etal., J Neurosci 1998 Mar 15;18(6):2017-27.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Localized effects of cAMP mediated by distinct routes of protein kinase A. Tasken K and Aandahl EM, Physiol Rev. 2004 Jan;84(1):137-67.
Additional References at PubMed
PMID:7790358   PMID:9872452   PMID:9915845   PMID:10202149   PMID:10358086   PMID:10390370   PMID:10862698   PMID:10945988   PMID:11076968   PMID:11799244   PMID:12015314   PMID:12036294  
PMID:12163479   PMID:12221128   PMID:12270714   PMID:12477932   PMID:12672969   PMID:12690205   PMID:12852856   PMID:12853948   PMID:14702039   PMID:14982933   PMID:15047863   PMID:15630448  
PMID:15670215   PMID:16002409   PMID:16198290   PMID:16339516   PMID:16356588   PMID:16462731   PMID:16741161   PMID:16760425   PMID:16980960   PMID:17043677   PMID:17148452   PMID:17352745  
PMID:17911601   PMID:18029348   PMID:18093912   PMID:18239623   PMID:18334708   PMID:18643869   PMID:18772391   PMID:19073175   PMID:19086053   PMID:19218243   PMID:19242490   PMID:20096683  
PMID:20106900   PMID:20231423   PMID:20301308   PMID:20379614   PMID:20453000   PMID:20466722   PMID:20952690   PMID:21374596   PMID:21399614   PMID:21502359   PMID:21516116   PMID:21606206  
PMID:21873635   PMID:21931171   PMID:21988832   PMID:22190034   PMID:22778270   PMID:22908311   PMID:23414517   PMID:23455922   PMID:23455924   PMID:23602568   PMID:24236485   PMID:24255178  
PMID:24452374   PMID:24457600   PMID:24475373   PMID:24648492   PMID:24713462   PMID:25087618   PMID:25172201   PMID:25416956   PMID:25446987   PMID:25476789   PMID:25657325   PMID:25943950  
PMID:26186194   PMID:26208639   PMID:26496610   PMID:26687479   PMID:26786868   PMID:26887056   PMID:26949739   PMID:27039663   PMID:27107012   PMID:27129302   PMID:27542412   PMID:27666745  
PMID:27684187   PMID:27880917   PMID:28089391   PMID:28514442   PMID:29054927   PMID:29162697   PMID:29247130   PMID:29464327   PMID:29507755   PMID:29516269   PMID:29545805   PMID:29961565  
PMID:30021884   PMID:30217970   PMID:30274258   PMID:30575818   PMID:30884312   PMID:31413325   PMID:31586073   PMID:31980649   PMID:32028718   PMID:32296183   PMID:32353859   PMID:32707033  
PMID:32814053   PMID:32877691   PMID:33060197   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34299191   PMID:34316702   PMID:34825085   PMID:35256949   PMID:35271311   PMID:35439318  
PMID:35563538   PMID:35567427   PMID:35831314   PMID:35944360   PMID:36215168   PMID:36217029   PMID:36217030   PMID:36244648   PMID:36543142   PMID:36736316   PMID:36931259   PMID:37071682  
PMID:37249651   PMID:37827155   PMID:38203733   PMID:38334954   PMID:38657442  


Genomics

Comparative Map Data
AKAP9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38791,940,862 - 92,110,673 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl791,940,840 - 92,110,673 (+)EnsemblGRCh38hg38GRCh38
GRCh37791,570,176 - 91,739,987 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36791,408,128 - 91,577,925 (+)NCBINCBI36Build 36hg18NCBI36
Build 34791,214,842 - 91,384,640NCBI
Celera786,274,770 - 86,444,535 (+)NCBICelera
Cytogenetic Map7q21.2NCBI
HuRef786,177,732 - 86,347,418 (+)NCBIHuRef
CHM1_1791,500,226 - 91,670,057 (+)NCBICHM1_1
T2T-CHM13v2.0793,182,145 - 93,351,954 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2790,900,316 - 91,069,225 (+)NCBI
Akap9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3953,977,410 - 4,130,204 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl53,978,054 - 4,131,310 (+)EnsemblGRCm39 Ensembl
GRCm3853,927,736 - 4,080,204 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl53,928,054 - 4,081,310 (+)EnsemblGRCm38mm10GRCm38
MGSCv3753,928,186 - 4,080,204 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3653,934,296 - 4,086,209 (+)NCBIMGSCv36mm8
Celera53,864,493 - 4,010,277 (+)NCBICelera
Cytogenetic Map5A1NCBI
cM Map52.26NCBI
Akap9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8431,011,475 - 31,147,338 (-)NCBIGRCr8
mRatBN7.2430,056,738 - 30,192,716 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl430,056,738 - 30,192,606 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx435,029,487 - 35,165,360 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0430,955,579 - 31,091,450 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0429,351,555 - 29,487,422 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0427,195,346 - 27,331,582 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl427,195,346 - 27,331,582 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0427,098,572 - 27,234,808 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4426,772,929 - 26,803,149 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1426,883,982 - 26,885,323 (-)NCBI
Celera425,482,592 - 25,617,928 (-)NCBICelera
Cytogenetic Map4q13NCBI
Akap9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554328,932,952 - 9,095,065 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554328,933,037 - 9,090,872 (+)NCBIChiLan1.0ChiLan1.0
AKAP9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26109,829,810 - 109,996,208 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17158,094,445 - 158,260,850 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0783,942,590 - 84,108,648 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1797,540,080 - 97,706,122 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl797,540,356 - 97,705,608 (+)Ensemblpanpan1.1panPan2
AKAP9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11417,590,256 - 17,743,646 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1417,590,772 - 17,740,294 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1417,151,819 - 17,305,050 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01417,396,944 - 17,550,371 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1417,397,094 - 17,550,290 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11417,555,293 - 17,708,724 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01417,269,978 - 17,423,205 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01417,543,776 - 17,697,085 (+)NCBIUU_Cfam_GSD_1.0
Akap9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511830,994,258 - 31,121,581 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366212,246,179 - 2,374,454 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366212,247,082 - 2,374,407 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AKAP9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl971,895,635 - 72,054,897 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1971,895,615 - 72,054,898 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2978,631,028 - 78,790,295 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AKAP9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12156,889,669 - 57,061,526 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2156,890,183 - 57,061,232 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604247,204,451 - 47,376,002 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Akap9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248091,103,538 - 1,257,809 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248091,101,941 - 1,258,402 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AKAP9
2605 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005751.5(AKAP9):c.5332T>A (p.Ser1778Thr) single nucleotide variant Cardiovascular phenotype [RCV004023768]|Long QT syndrome [RCV000530362] Chr7:92045177 [GRCh38]
Chr7:91674491 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7221A>G (p.Glu2407=) single nucleotide variant AKAP9-related disorder [RCV003900120]|Cardiovascular phenotype [RCV000617535]|Long QT syndrome 11 [RCV002253505]|Long QT syndrome [RCV001514829] Chr7:92079354 [GRCh38]
Chr7:91708668 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.5752A>C (p.Ser1918Arg) single nucleotide variant Cardiovascular phenotype [RCV002350187]|Long QT syndrome 11 [RCV002483368]|Long QT syndrome [RCV000545531] Chr7:92061410 [GRCh38]
Chr7:91690724 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1253T>C (p.Ile418Thr) single nucleotide variant Long QT syndrome [RCV000530889] Chr7:92001170 [GRCh38]
Chr7:91630484 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11111A>G (p.Lys3704Arg) single nucleotide variant Long QT syndrome [RCV000524802] Chr7:92102607 [GRCh38]
Chr7:91731921 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5434T>C (p.Ser1812Pro) single nucleotide variant Long QT syndrome [RCV000531577] Chr7:92052791 [GRCh38]
Chr7:91682105 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.813C>T (p.Leu271=) single nucleotide variant Cardiovascular phenotype [RCV002420362]|Long QT syndrome 11 [RCV002253506]|Long QT syndrome [RCV000529389]|not provided [RCV001644626] Chr7:91995683 [GRCh38]
Chr7:91624997 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.7606C>T (p.Leu2536Phe) single nucleotide variant Cardiovascular phenotype [RCV002395298]|Long QT syndrome 11 [RCV002490963]|Long QT syndrome [RCV000551973] Chr7:92079739 [GRCh38]
Chr7:91709053 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4837A>G (p.Met1613Val) single nucleotide variant Cardiac arrhythmia [RCV001841513]|Long QT syndrome [RCV000542732]|not provided [RCV001551993]|not specified [RCV000202769] Chr7:92040818 [GRCh38]
Chr7:91670132 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu) single nucleotide variant Cardiovascular phenotype [RCV002336077]|Long QT syndrome 11 [RCV000006241]|Long QT syndrome [RCV000631713]|not provided [RCV000756981] Chr7:92040690 [GRCh38]
Chr7:91670004 [GRCh37]
Chr7:7q21.2		 pathogenic|likely benign|uncertain significance
NM_005751.5(AKAP9):c.264T>G (p.His88Gln) single nucleotide variant Long QT syndrome [RCV000546069] Chr7:91973926 [GRCh38]
Chr7:91603240 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4917+3A>C single nucleotide variant Cardiovascular phenotype [RCV002350466]|Long QT syndrome [RCV001347317]|not specified [RCV000602727] Chr7:92040901 [GRCh38]
Chr7:91670215 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.6883G>A (p.Asp2295Asn) single nucleotide variant Long QT syndrome [RCV000526426] Chr7:92077813 [GRCh38]
Chr7:91707127 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.257C>G (p.Thr86Ser) single nucleotide variant Cardiovascular phenotype [RCV003298911]|Long QT syndrome [RCV003647838]|not provided [RCV001508212] Chr7:91973919 [GRCh38]
Chr7:91603233 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9317T>C (p.Ile3106Thr) single nucleotide variant Cardiovascular phenotype [RCV004037884]|not provided [RCV001508217] Chr7:92089488 [GRCh38]
Chr7:91718802 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3118A>G (p.Lys1040Glu) single nucleotide variant Cardiovascular phenotype [RCV002323921]|Long QT syndrome 11 [RCV000764726]|Long QT syndrome [RCV000546415] Chr7:92003035 [GRCh38]
Chr7:91632349 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.441A>T (p.Glu147Asp) single nucleotide variant Cardiovascular phenotype [RCV002330831]|Long QT syndrome [RCV001422359] Chr7:91992920 [GRCh38]
Chr7:91622234 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.7800T>C (p.Asp2600=) single nucleotide variant Cardiovascular phenotype [RCV002413454]|Long QT syndrome [RCV000553209] Chr7:92079933 [GRCh38]
Chr7:91709247 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4163C>T (p.Ser1388Leu) single nucleotide variant Cardiovascular phenotype [RCV002330830]|Long QT syndrome 11 [RCV002506297]|Long QT syndrome [RCV000547852]|not specified [RCV004701608] Chr7:92029909 [GRCh38]
Chr7:91659223 [GRCh37]
Chr7:7q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
NM_005751.4(AKAP9):c.5259C>T (p.Val1753=) single nucleotide variant Malignant melanoma [RCV000067996] Chr7:92045104 [GRCh38]
Chr7:91674418 [GRCh37]
Chr7:91512354 [NCBI36]
Chr7:7q21.2		 not provided
NM_005751.4(AKAP9):c.10693A>C (p.Thr3565Pro) single nucleotide variant Malignant melanoma [RCV000067997] Chr7:92098194 [GRCh38]
Chr7:91727508 [GRCh37]
Chr7:91565444 [NCBI36]
Chr7:7q21.2		 not provided
NM_005751.4(AKAP9):c.1163G>A (p.Arg388Lys) single nucleotide variant Malignant melanoma [RCV000061697] Chr7:92001080 [GRCh38]
Chr7:91630394 [GRCh37]
Chr7:91468330 [NCBI36]
Chr7:7q21.2		 not provided
NM_005751.5(AKAP9):c.4841G>A (p.Arg1614Gln) single nucleotide variant Cardiovascular phenotype [RCV000251706]|Congenital long QT syndrome [RCV000356670]|Long QT syndrome 11 [RCV002253223]|Long QT syndrome [RCV000206847]|not provided [RCV004704965]|not specified [RCV000123575] Chr7:92040822 [GRCh38]
Chr7:91670136 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005751.5(AKAP9):c.5163-20G>A single nucleotide variant Long QT syndrome 11 [RCV000602250]|Long QT syndrome [RCV002055398]|not provided [RCV004712079]|not specified [RCV000123576] Chr7:92044988 [GRCh38]
Chr7:91674302 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr) single nucleotide variant Cardiovascular phenotype [RCV000618857]|Long QT syndrome 11 [RCV000624950]|Long QT syndrome [RCV001084388]|not provided [RCV000171719]|not specified [RCV003987367]|unspecified heart condition [RCV000853459] Chr7:92045091 [GRCh38]
Chr7:91674405 [GRCh37]
Chr7:7q21.2		 benign|likely benign|uncertain significance
NM_005751.5(AKAP9):c.5778C>T (p.Gly1926=) single nucleotide variant Cardiovascular phenotype [RCV000249103]|Congenital long QT syndrome [RCV000398917]|Long QT syndrome 11 [RCV000609379]|Long QT syndrome [RCV000350194]|not provided [RCV004706548]|not specified [RCV000123578] Chr7:92062287 [GRCh38]
Chr7:91691601 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.5830A>G (p.Ile1944Val) single nucleotide variant Cardiovascular phenotype [RCV003352776]|not specified [RCV000123579] Chr7:92062339 [GRCh38]
Chr7:91691653 [GRCh37]
Chr7:7q21.2		 benign|uncertain significance
NM_005751.5(AKAP9):c.6945+8C>T single nucleotide variant Congenital long QT syndrome [RCV000279126]|Long QT syndrome 11 [RCV000616426]|Long QT syndrome [RCV000397476]|not provided [RCV004706549]|not specified [RCV000123580] Chr7:92077883 [GRCh38]
Chr7:91707197 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.7074A>G (p.Lys2358=) single nucleotide variant AKAP9-related disorder [RCV003905186]|Cardiovascular phenotype [RCV000619447]|Long QT syndrome [RCV001466588] Chr7:92079207 [GRCh38]
Chr7:91708521 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.7275G>A (p.Gln2425=) single nucleotide variant Cardiovascular phenotype [RCV000248579]|Long QT syndrome 11 [RCV002253224]|Long QT syndrome [RCV000203719]|not provided [RCV002055399]|not specified [RCV000123582] Chr7:92079408 [GRCh38]
Chr7:91708722 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.7451A>G (p.Lys2484Arg) single nucleotide variant Cardiovascular phenotype [RCV000251839]|Congenital long QT syndrome [RCV000306061]|Long QT syndrome 11 [RCV002253225]|Long QT syndrome [RCV000339876]|not provided [RCV004704966]|not specified [RCV000123583] Chr7:92079584 [GRCh38]
Chr7:91708898 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.7638A>G (p.Ile2546Met) single nucleotide variant AKAP9-related disorder [RCV003952635]|Cardiovascular phenotype [RCV000619879]|Long QT syndrome 11 [RCV002253226]|Long QT syndrome [RCV000527992]|not provided [RCV004706550]|not specified [RCV000123584] Chr7:92079771 [GRCh38]
Chr7:91709085 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser) single nucleotide variant Cardiovascular phenotype [RCV000252649]|Congenital long QT syndrome [RCV000261848]|Long QT syndrome 11 [RCV000606154]|Long QT syndrome [RCV000386806]|not provided [RCV004706551]|not specified [RCV000123585] Chr7:92083384 [GRCh38]
Chr7:91712698 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.8665C>T (p.Leu2889=) single nucleotide variant Cardiovascular phenotype [RCV000244445]|Congenital long QT syndrome [RCV000341751]|Long QT syndrome 11 [RCV000608948]|Long QT syndrome [RCV000279681]|not provided [RCV004706552]|not specified [RCV000123586] Chr7:92084658 [GRCh38]
Chr7:91713972 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) single nucleotide variant Cardiovascular phenotype [RCV000248223]|Congenital long QT syndrome [RCV000282743]|Long QT syndrome 11 [RCV000615983]|Long QT syndrome [RCV000380065]|not provided [RCV000171725]|not specified [RCV000123587] Chr7:92085597 [GRCh38]
Chr7:91714911 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.9145C>T (p.Leu3049=) single nucleotide variant Cardiovascular phenotype [RCV000249606]|Congenital long QT syndrome [RCV000310199]|Long QT syndrome 11 [RCV000605705]|Long QT syndrome [RCV000344070]|not provided [RCV004704967]|not specified [RCV000123588] Chr7:92086348 [GRCh38]
Chr7:91715662 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.10426A>C (p.Arg3476=) single nucleotide variant Cardiovascular phenotype [RCV000248916]|Congenital long QT syndrome [RCV000353938]|Long QT syndrome 11 [RCV000610682]|Long QT syndrome [RCV000399658]|not provided [RCV004706553]|not specified [RCV000123589] Chr7:92097613 [GRCh38]
Chr7:91726927 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.10840A>G (p.Met3614Val) single nucleotide variant Cardiomyopathy [RCV000853026]|Cardiovascular phenotype [RCV000241801]|Congenital long QT syndrome [RCV000294135]|Long QT syndrome 11 [RCV000624957]|Long QT syndrome [RCV000204039]|not provided [RCV003436940]|not specified [RCV000123590] Chr7:92099813 [GRCh38]
Chr7:91729127 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) single nucleotide variant Cardiovascular phenotype [RCV000618431]|Long QT syndrome 11 [RCV000624947]|Long QT syndrome [RCV001080217]|not provided [RCV000171712]|not specified [RCV000123591] Chr7:91973742 [GRCh38]
Chr7:91603056 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile) single nucleotide variant Cardiovascular phenotype [RCV000244317]|Colorectal cancer [RCV000171778]|Long QT syndrome 11 [RCV000602690]|Long QT syndrome [RCV000350947]|not provided [RCV004712080]|not specified [RCV000123592] Chr7:92001306 [GRCh38]
Chr7:92001306..92001307 [GRCh38]
Chr7:91630620 [GRCh37]
Chr7:91630620..91630621 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.1536C>T (p.Leu512=) single nucleotide variant AKAP9-related disorder [RCV003905187]|Cardiovascular phenotype [RCV000618866]|Long QT syndrome 11 [RCV002253227]|Long QT syndrome [RCV000464754]|not provided [RCV001723689]|not specified [RCV000123593] Chr7:92001453 [GRCh38]
Chr7:91630767 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.3075C>T (p.Thr1025=) single nucleotide variant Cardiovascular phenotype [RCV000243269]|Congenital long QT syndrome [RCV000388439]|Long QT syndrome 11 [RCV000609828]|Long QT syndrome [RCV000294066]|not provided [RCV004706554]|not specified [RCV000123594] Chr7:92002992 [GRCh38]
Chr7:91632306 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.3504A>G (p.Glu1168=) single nucleotide variant Cardiovascular phenotype [RCV000243921]|Congenital long QT syndrome [RCV000342249]|Long QT syndrome 11 [RCV000614695]|Long QT syndrome [RCV000392665]|not provided [RCV004706555]|not specified [RCV000123595] Chr7:92012614 [GRCh38]
Chr7:91641928 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln) duplication Cardiovascular phenotype [RCV000248835]|Congenital long QT syndrome [RCV000280223]|Long QT syndrome 11 [RCV002253258]|Long QT syndrome [RCV000374712]|not provided [RCV000845418]|not specified [RCV000170635] Chr7:92022864..92022865 [GRCh38]
Chr7:91652178..91652179 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.4693-11del deletion Cardiac arrhythmia [RCV001842507] Chr7:92040647 [GRCh38]
Chr7:91669961 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.5058+12T>G single nucleotide variant Long QT syndrome 11 [RCV002253255]|Long QT syndrome [RCV002054019]|not specified [RCV000170613] Chr7:92042198 [GRCh38]
Chr7:91671512 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.4825_4826delinsCA (p.Arg1609Gln) indel Cardiovascular phenotype [RCV002326932]|Long QT syndrome [RCV000525443]|Ventricular fibrillation [RCV000208405]|not provided [RCV001256720] Chr7:92040806..92040807 [GRCh38]
Chr7:91670120..91670121 [GRCh37]
Chr7:7q21.2		 benign|likely benign|uncertain significance
NM_005751.5(AKAP9):c.4927A>C (p.Ile1643Leu) single nucleotide variant AKAP9-related disorder [RCV003917582]|Cardiovascular phenotype [RCV002336390]|Long QT syndrome [RCV000799723]|not provided [RCV001704234] Chr7:92042055 [GRCh38]
Chr7:91671369 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.4985C>T (p.Ala1662Val) single nucleotide variant AKAP9-related disorder [RCV003965223]|Cardiovascular phenotype [RCV002336391]|Long QT syndrome [RCV001850429]|not provided [RCV001704235]|not specified [RCV000170612] Chr7:92042113 [GRCh38]
Chr7:91671427 [GRCh37]
Chr7:7q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.5117A>G (p.Asp1706Gly) single nucleotide variant Cardiovascular phenotype [RCV000620424]|Long QT syndrome [RCV000472477]|not specified [RCV000170614] Chr7:92042726 [GRCh38]
Chr7:91672040 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.6974G>A (p.Arg2325Lys) single nucleotide variant not specified [RCV000170615] Chr7:92079107 [GRCh38]
Chr7:91708421 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7034_7036del (p.Arg2345_Glu2346delinsLys) deletion Cardiac arrhythmia [RCV001842508]|Cardiovascular phenotype [RCV002362866]|Long QT syndrome [RCV001050315]|not specified [RCV004767116] Chr7:92079167..92079169 [GRCh38]
Chr7:91708481..91708483 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.8221G>T (p.Ala2741Ser) single nucleotide variant not specified [RCV000170618] Chr7:92083230 [GRCh38]
Chr7:91712544 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8912A>G (p.His2971Arg) single nucleotide variant not specified [RCV000170619] Chr7:92085574 [GRCh38]
Chr7:91714888 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10526A>G (p.Asn3509Ser) single nucleotide variant not specified [RCV000170622] Chr7:92097713 [GRCh38]
Chr7:91727027 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11225G>C (p.Arg3742Pro) single nucleotide variant Cardiovascular phenotype [RCV000253746]|Long QT syndrome 11 [RCV002253256]|Long QT syndrome [RCV000205220]|not specified [RCV000171785] Chr7:92102721 [GRCh38]
Chr7:91732035 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005751.5(AKAP9):c.11519T>C (p.Ile3840Thr) single nucleotide variant Cardiovascular phenotype [RCV002345571]|Long QT syndrome [RCV000538694]|not specified [RCV000170624] Chr7:92107395 [GRCh38]
Chr7:91736709 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.288G>T (p.Glu96Asp) single nucleotide variant AKAP9-related disorder [RCV003907534]|Cardiovascular phenotype [RCV002433729]|Long QT syndrome 11 [RCV002498848]|Long QT syndrome [RCV000557613]|not specified [RCV000170627] Chr7:91973950 [GRCh38]
Chr7:91603264 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.289C>G (p.Gln97Glu) single nucleotide variant Cardiovascular phenotype [RCV003162726]|Long QT syndrome [RCV001363635]|not specified [RCV000170628] Chr7:91973951 [GRCh38]
Chr7:91603265 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.1158A>T (p.Lys386Asn) single nucleotide variant Cardiovascular phenotype [RCV002362867]|Long QT syndrome [RCV001071429]|not provided [RCV000170630]|not specified [RCV000185480] Chr7:92001075 [GRCh38]
Chr7:91630389 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.1538A>G (p.Lys513Arg) single nucleotide variant Cardiovascular phenotype [RCV003162727]|Long QT syndrome [RCV002515223]|not specified [RCV000170632] Chr7:92001455 [GRCh38]
Chr7:91630769 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.2425A>G (p.Ile809Val) single nucleotide variant AKAP9-related disorder [RCV003947450]|Cardiovascular phenotype [RCV000620147]|Long QT syndrome 11 [RCV002253257]|Long QT syndrome [RCV001086739]|not provided [RCV000170633]|not specified [RCV000185482] Chr7:92002342 [GRCh38]
Chr7:91631656 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.2477T>C (p.Ile826Thr) single nucleotide variant Cardiovascular phenotype [RCV000251195]|Congenital long QT syndrome [RCV000303943]|Long QT syndrome [RCV000267477]|not provided [RCV003436967]|not specified [RCV000170634] Chr7:92002394 [GRCh38]
Chr7:91631708 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.4127G>C (p.Ser1376Thr) single nucleotide variant Cardiovascular phenotype [RCV000621504]|Long QT syndrome [RCV000234027]|not provided [RCV003992205]|not specified [RCV000170636] Chr7:92022988 [GRCh38]
Chr7:91652302 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr) single nucleotide variant Cardiovascular phenotype [RCV000617996]|Congenital long QT syndrome [RCV000351603]|Long QT syndrome 11 [RCV000624955]|Long QT syndrome [RCV000233623]|not provided [RCV000170637]|not specified [RCV002469041] Chr7:92097077 [GRCh38]
Chr7:91726391 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.10254G>C (p.Gln3418His) single nucleotide variant Cardiovascular phenotype [RCV002381540]|Long QT syndrome 11 [RCV001001400]|Long QT syndrome [RCV001082130]|not provided [RCV000170640]|not specified [RCV000185488] Chr7:92097213 [GRCh38]
Chr7:91726527 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005751.5(AKAP9):c.610G>A (p.Asp204Asn) single nucleotide variant Cardiovascular phenotype [RCV000251693]|Long QT syndrome 11 [RCV000477753]|Long QT syndrome [RCV001080679]|not provided [RCV000170641] Chr7:91994654 [GRCh38]
Chr7:91623968 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val) single nucleotide variant Cardiovascular phenotype [RCV000250287]|Congenital long QT syndrome [RCV000365126]|Long QT syndrome 11 [RCV000624956]|Long QT syndrome [RCV000272838]|not provided [RCV000170642]|not specified [RCV000185490] Chr7:92098165 [GRCh38]
Chr7:91727479 [GRCh37]
Chr7:7q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.4(AKAP9):c.5977C>T (p.Gln1993Ter) single nucleotide variant Cardiac arrhythmia [RCV000170643] Chr7:92062486 [GRCh38]
Chr7:91691800 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.4(AKAP9):c.8831A>G (p.Lys2944Arg) single nucleotide variant Cardiac arrhythmia [RCV000170645] Chr7:92084939 [GRCh38]
Chr7:91714253 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) single nucleotide variant Brugada syndrome 1 [RCV000584786]|Cardiovascular phenotype [RCV000242948]|Catecholaminergic polymorphic ventricular tachycardia [RCV000853011]|Congenital long QT syndrome [RCV000354957]|Long QT syndrome 11 [RCV000624949]|Long QT syndrome [RCV000197421]|not provided [RCV000170646]|not specified [RCV001706104] Chr7:91992989 [GRCh38]
Chr7:91622303 [GRCh37]
Chr7:7q21.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.9880C>G (p.Arg3294Gly) single nucleotide variant Long QT syndrome [RCV001231095] Chr7:92096839 [GRCh38]
Chr7:91726153 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4814C>T (p.Thr1605Met) single nucleotide variant Cardiovascular phenotype [RCV002336389]|Long QT syndrome [RCV000553980]|not provided [RCV000786089] Chr7:92040795 [GRCh38]
Chr7:91670109 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.8207T>G (p.Val2736Gly) single nucleotide variant not specified [RCV000170617] Chr7:92083216 [GRCh38]
Chr7:91712530 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10319T>C (p.Met3440Thr) single nucleotide variant Long QT syndrome [RCV001850430]|not specified [RCV000170620] Chr7:92097278 [GRCh38]
Chr7:91726592 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.10495A>G (p.Ile3499Val) single nucleotide variant not specified [RCV000170621] Chr7:92097682 [GRCh38]
Chr7:91726996 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.119G>A (p.Arg40Lys) single nucleotide variant Cardiovascular phenotype [RCV003352791]|Congenital long QT syndrome [RCV000362168]|Long QT syndrome 11 [RCV003137699]|not provided [RCV001711455] Chr7:91973781 [GRCh38]
Chr7:91603095 [GRCh37]
Chr7:7q21.2		 benign|likely benign|uncertain significance
NM_005751.5(AKAP9):c.235C>T (p.Pro79Ser) single nucleotide variant Cardiovascular phenotype [RCV003278674]|Long QT syndrome [RCV000686763]|not specified [RCV000170626] Chr7:91973897 [GRCh38]
Chr7:91603211 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.1223A>G (p.Asn408Ser) single nucleotide variant not specified [RCV000170631] Chr7:92001140 [GRCh38]
Chr7:91630454 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8212G>C (p.Asp2738His) single nucleotide variant Cardiovascular phenotype [RCV004020023]|Long QT syndrome 11 [RCV002485055]|Long QT syndrome [RCV001225202] Chr7:92083221 [GRCh38]
Chr7:91712535 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.109A>G (p.Lys37Glu) single nucleotide variant Cardiovascular phenotype [RCV002453573]|Long QT syndrome [RCV002516545]|not provided [RCV000170644] Chr7:91973771 [GRCh38]
Chr7:91603085 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6098A>G (p.Gln2033Arg) single nucleotide variant Cardiovascular phenotype [RCV002357101]|Long QT syndrome 11 [RCV002486166]|Long QT syndrome [RCV001302668] Chr7:92065351 [GRCh38]
Chr7:91694665 [GRCh37]
Chr7:7q21.2		 uncertain significance
Single allele duplication not specified [RCV000174754] Chr7:92022867..92022868 [GRCh38]
Chr7:91652181..91652182 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.6386T>G (p.Leu2129Trp) single nucleotide variant Cardiovascular phenotype [RCV002366140]|Long QT syndrome [RCV001302674] Chr7:92070085 [GRCh38]
Chr7:91699399 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10633G>C (p.Glu3545Gln) single nucleotide variant Cardiovascular phenotype [RCV003382510]|Long QT syndrome [RCV001302911] Chr7:92098134 [GRCh38]
Chr7:91727448 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10022C>T (p.Ser3341Leu) single nucleotide variant Long QT syndrome [RCV000143868] Chr7:92096981 [GRCh38]
Chr7:91726295 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11518A>G (p.Ile3840Val) single nucleotide variant Cardiovascular phenotype [RCV002350552]|Long QT syndrome [RCV001304002] Chr7:92107394 [GRCh38]
Chr7:91736708 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.389C>G (p.Pro130Arg) single nucleotide variant Long QT syndrome [RCV003105807]|not provided [RCV000171574] Chr7:91992195 [GRCh38]
Chr7:91621509 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1685A>G (p.His562Arg) single nucleotide variant Cardiovascular phenotype [RCV002408741]|Long QT syndrome 11 [RCV002485091]|Long QT syndrome [RCV000805832]|not provided [RCV000171575] Chr7:92001602 [GRCh38]
Chr7:91630916 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.3950T>C (p.Ile1317Thr) single nucleotide variant Long QT syndrome [RCV001852072]|not provided [RCV000171577] Chr7:92022350 [GRCh38]
Chr7:91651664 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4156G>T (p.Val1386Phe) single nucleotide variant Cardiovascular phenotype [RCV002326937]|Long QT syndrome 11 [RCV002505235]|Long QT syndrome [RCV002516558]|not provided [RCV000171578] Chr7:92029902 [GRCh38]
Chr7:91659216 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5234T>C (p.Val1745Ala) single nucleotide variant Cardiovascular phenotype [RCV002336405]|Long QT syndrome [RCV003765076]|not provided [RCV000171579] Chr7:92045079 [GRCh38]
Chr7:91674393 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5543C>G (p.Ser1848Cys) single nucleotide variant Cardiovascular phenotype [RCV002345578]|Long QT syndrome [RCV001087233]|not provided [RCV000171581] Chr7:92052900 [GRCh38]
Chr7:91682214 [GRCh37]
Chr7:7q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.5636T>C (p.Met1879Thr) single nucleotide variant Cardiovascular phenotype [RCV002345579]|Long QT syndrome [RCV001852073]|not provided [RCV000171582] Chr7:92061294 [GRCh38]
Chr7:91690608 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.5827G>T (p.Asp1943Tyr) single nucleotide variant not provided [RCV000171583] Chr7:92062336 [GRCh38]
Chr7:91691650 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7773A>C (p.Gln2591His) single nucleotide variant Cardiovascular phenotype [RCV002408742]|Long QT syndrome [RCV001088422]|not provided [RCV000171584] Chr7:92079906 [GRCh38]
Chr7:91709220 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.8894A>G (p.Tyr2965Cys) single nucleotide variant AKAP9-related disorder [RCV003927571]|Cardiovascular phenotype [RCV002372067]|Long QT syndrome [RCV001439818]|not provided [RCV000171586] Chr7:92085556 [GRCh38]
Chr7:91714870 [GRCh37]
Chr7:7q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.9577A>G (p.Arg3193Gly) single nucleotide variant Long QT syndrome 11 [RCV002485092]|not provided [RCV000171587] Chr7:92093315 [GRCh38]
Chr7:91722629 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9830T>C (p.Ile3277Thr) single nucleotide variant Cardiovascular phenotype [RCV002372068]|Long QT syndrome [RCV001852074]|not provided [RCV000171588] Chr7:92096789 [GRCh38]
Chr7:91726103 [GRCh37]
Chr7:7q21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.10523G>A (p.Cys3508Tyr) single nucleotide variant Cardiovascular phenotype [RCV004020046]|Long QT syndrome [RCV003647750]|not provided [RCV000171589]|not specified [RCV003398880] Chr7:92097710 [GRCh38]
Chr7:91727024 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) single nucleotide variant Cardiovascular phenotype [RCV002326938]|Congenital long QT syndrome [RCV000346721]|Hypertrophic cardiomyopathy [RCV000853028]|Long QT syndrome [RCV000284774]|not provided [RCV000171590]|not specified [RCV003230431] Chr7:92110149 [GRCh38]
Chr7:91739463 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) single nucleotide variant Atrial fibrillation [RCV000853010]|Cardiovascular phenotype [RCV000254067]|Congenital long QT syndrome [RCV000407417]|Long QT syndrome 11 [RCV000624948]|Long QT syndrome [RCV000204404]|not provided [RCV001711344]|not specified [RCV000171775] Chr7:91973801 [GRCh38]
Chr7:91603115 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005751.5(AKAP9):c.1301G>A (p.Arg434Gln) single nucleotide variant Cardiovascular phenotype [RCV000618946]|Congenital long QT syndrome [RCV000296066]|Long QT syndrome 11 [RCV002253264]|Long QT syndrome [RCV000399344]|not provided [RCV001706110]|not specified [RCV000171776] Chr7:92001218 [GRCh38]
Chr7:91630532 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005751.5(AKAP9):c.1372G>C (p.Ala458Pro) single nucleotide variant Cardiovascular phenotype [RCV000619217]|Long QT syndrome 11 [RCV002253265]|Long QT syndrome [RCV000204048]|Primary dilated cardiomyopathy [RCV000853012]|not provided [RCV001557217]|not specified [RCV000171777] Chr7:92001289 [GRCh38]
Chr7:91630603 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.3827G>A (p.Arg1276Gln) single nucleotide variant Cardiovascular phenotype [RCV000245265]|Congenital long QT syndrome [RCV000278007]|Long QT syndrome 11 [RCV002253266]|Long QT syndrome [RCV000228352]|not provided [RCV001706111]|not specified [RCV000171779] Chr7:92017092 [GRCh38]
Chr7:91646406 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005751.5(AKAP9):c.4199T>C (p.Met1400Thr) single nucleotide variant Cardiovascular phenotype [RCV000250219]|Congenital long QT syndrome [RCV000402169]|Long QT syndrome 11 [RCV002253267]|Long QT syndrome [RCV000310602]|not provided [RCV001711459]|not specified [RCV000171780] Chr7:92029945 [GRCh38]
Chr7:91659259 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005751.5(AKAP9):c.4519G>C (p.Asp1507His) single nucleotide variant AKAP9-related disorder [RCV003927572]|Cardiomyopathy [RCV000853014]|Cardiovascular phenotype [RCV000617198]|Long QT syndrome 11 [RCV002253268]|Long QT syndrome [RCV000229065]|not provided [RCV001571852]|not specified [RCV000171781] Chr7:92038599 [GRCh38]
Chr7:91667913 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg) single nucleotide variant Cardiomyopathy [RCV000853023]|Cardiovascular phenotype [RCV000620913]|Long QT syndrome 11 [RCV002253269]|Long QT syndrome [RCV000205866]|not provided [RCV004712150]|not specified [RCV000171782] Chr7:92086295 [GRCh38]
Chr7:91715609 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg) single nucleotide variant Cardiovascular phenotype [RCV000248840]|Congenital long QT syndrome [RCV000301532]|Long QT syndrome 11 [RCV002253270]|Long QT syndrome [RCV000398846]|not provided [RCV000845421]|not specified [RCV000171783] Chr7:92097290 [GRCh38]
Chr7:91726604 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val) single nucleotide variant Cardiovascular phenotype [RCV002415730]|Congenital long QT syndrome [RCV000279610]|Long QT syndrome 11 [RCV002253271]|Long QT syndrome [RCV000341680]|not provided [RCV001711460]|not specified [RCV000171784] Chr7:92099831 [GRCh38]
Chr7:91729145 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005751.5(AKAP9):c.1742C>A (p.Ser581Tyr) single nucleotide variant not provided [RCV000171576] Chr7:92001659 [GRCh38]
Chr7:91630973 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5534A>G (p.Asn1845Ser) single nucleotide variant not provided [RCV000171580] Chr7:92052891 [GRCh38]
Chr7:91682205 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7921AAG[1] (p.Lys2642del) microsatellite AKAP9-related disorder [RCV003422064]|Cardiovascular phenotype [RCV002415728]|Long QT syndrome [RCV002515242]|not provided [RCV000171585]|not specified [RCV003398879] Chr7:92080054..92080056 [GRCh38]
Chr7:91709368..91709370 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.971T>C (p.Ile324Thr) single nucleotide variant AKAP9-related disorder [RCV003907540]|Cardiovascular phenotype [RCV000621863]|Congenital long QT syndrome [RCV000384780]|Long QT syndrome [RCV000227294]|not provided [RCV000171713] Chr7:92000888 [GRCh38]
Chr7:91630202 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.2230G>A (p.Glu744Lys) single nucleotide variant Cardiovascular phenotype [RCV002426816]|Long QT syndrome [RCV000816680]|not provided [RCV000171714] Chr7:92002147 [GRCh38]
Chr7:91631461 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.2581T>C (p.Tyr861His) single nucleotide variant Cardiovascular phenotype [RCV000621677]|Congenital long QT syndrome [RCV000264374]|Long QT syndrome [RCV002054028]|not provided [RCV000171715] Chr7:92002498 [GRCh38]
Chr7:91631812 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.4190A>G (p.Gln1397Arg) single nucleotide variant AKAP9-related disorder [RCV003907541]|Cardiovascular phenotype [RCV000247905]|Congenital long QT syndrome [RCV000340819]|Long QT syndrome [RCV000285908]|not provided [RCV000171717] Chr7:92029936 [GRCh38]
Chr7:91659250 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.4342A>G (p.Ile1448Val) single nucleotide variant Cardiovascular phenotype [RCV000243341]|Long QT syndrome [RCV001082717]|not provided [RCV000171718]|not specified [RCV003488421] Chr7:92038422 [GRCh38]
Chr7:91667736 [GRCh37]
Chr7:7q21.2		 benign|likely benign|uncertain significance
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys) single nucleotide variant AKAP9-related disorder [RCV003982921]|Cardiovascular phenotype [RCV000252240]|Congenital long QT syndrome [RCV000267059]|Long QT syndrome 11 [RCV000999737]|Long QT syndrome [RCV000361700]|not provided [RCV000171720]|not specified [RCV001797656] Chr7:92065290 [GRCh38]
Chr7:91694604 [GRCh37]
Chr7:7q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly) single nucleotide variant Cardiovascular phenotype [RCV000250867]|Congenital long QT syndrome [RCV000358502]|Long QT syndrome 11 [RCV001333446]|Long QT syndrome [RCV000204021]|not provided [RCV000171721]|not specified [RCV001256723] Chr7:92065429 [GRCh38]
Chr7:91694743 [GRCh37]
Chr7:7q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro) single nucleotide variant Cardiomyopathy [RCV000853018]|Cardiovascular phenotype [RCV000243812]|Long QT syndrome 11 [RCV000624953]|Long QT syndrome [RCV001080872]|not provided [RCV000171722]|not specified [RCV001328420] Chr7:92070953 [GRCh38]
Chr7:91700267 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.7488T>G (p.Asn2496Lys) single nucleotide variant Cardiovascular phenotype [RCV000253231]|Congenital long QT syndrome [RCV000309341]|Long QT syndrome [RCV000204515]|not provided [RCV000171723] Chr7:92079621 [GRCh38]
Chr7:91708935 [GRCh37]
Chr7:7q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn) single nucleotide variant AKAP9-related disorder [RCV003907542]|Cardiovascular phenotype [RCV000241571]|Long QT syndrome 11 [RCV000624954]|Long QT syndrome [RCV001084749]|not provided [RCV000171724]|not specified [RCV001192966] Chr7:92083295 [GRCh38]
Chr7:91712609 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly) single nucleotide variant Cardiomyopathy [RCV000853024]|Cardiovascular phenotype [RCV000619253]|Long QT syndrome 11 [RCV001333447]|Long QT syndrome [RCV000530961]|not provided [RCV000171726]|not specified [RCV003230433] Chr7:92096722 [GRCh38]
Chr7:91726036 [GRCh37]
Chr7:7q21.2		 benign|likely benign|uncertain significance
NM_005751.5(AKAP9):c.9929G>A (p.Arg3310Gln) single nucleotide variant Cardiovascular phenotype [RCV000243508]|Congenital long QT syndrome [RCV000347974]|Long QT syndrome 11 [RCV002253261]|Long QT syndrome [RCV000205860]|not provided [RCV000171727]|not specified [RCV001582668] Chr7:92096888 [GRCh38]
Chr7:91726202 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005751.5(AKAP9):c.10249C>T (p.Arg3417Cys) single nucleotide variant Cardiovascular phenotype [RCV002381554]|Long QT syndrome 11 [RCV001358482]|Long QT syndrome [RCV001209333]|not provided [RCV000171728] Chr7:92097208 [GRCh38]
Chr7:91726522 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys) single nucleotide variant AKAP9-related disorder [RCV003937537]|Cardiovascular phenotype [RCV000250716]|Congenital long QT syndrome [RCV000361837]|Long QT syndrome 11 [RCV000185546]|Long QT syndrome [RCV000304827]|not provided [RCV000171729]|not specified [RCV002509278] Chr7:92097646 [GRCh38]
Chr7:91726960 [GRCh37]
Chr7:7q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.10672A>G (p.Ile3558Val) single nucleotide variant AKAP9-related disorder [RCV003917587]|Arrhythmogenic right ventricular cardiomyopathy [RCV000853025]|Cardiovascular phenotype [RCV000619518]|Congenital long QT syndrome [RCV000382450]|Long QT syndrome [RCV000325524]|not provided [RCV000171730] Chr7:92098173 [GRCh38]
Chr7:91727487 [GRCh37]
Chr7:7q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.11135G>A (p.Arg3712Gln) single nucleotide variant Cardiovascular phenotype [RCV000619885]|Long QT syndrome 11 [RCV002253262]|Long QT syndrome [RCV001087509]|not provided [RCV000171731] Chr7:92102631 [GRCh38]
Chr7:91731945 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.11229G>A (p.Met3743Ile) single nucleotide variant Cardiovascular phenotype [RCV000617326]|Congenital long QT syndrome [RCV000310251]|Long QT syndrome [RCV000362669]|not provided [RCV000171732]|not specified [RCV002298501] Chr7:92102725 [GRCh38]
Chr7:91732039 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.11230G>T (p.Gly3744Trp) single nucleotide variant Cardiovascular phenotype [RCV002433743]|Congenital long QT syndrome [RCV000370586]|Long QT syndrome 11 [RCV003224186]|Long QT syndrome [RCV000273671]|not provided [RCV000171733] Chr7:92102726 [GRCh38]
Chr7:91732040 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His) single nucleotide variant Cardiovascular phenotype [RCV000248078]|Long QT syndrome 11 [RCV002253263]|Long QT syndrome [RCV001085477]|Primary dilated cardiomyopathy [RCV000853027]|not provided [RCV000171734]|not specified [RCV001699217] Chr7:92102769 [GRCh38]
Chr7:91732083 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.11362G>C (p.Val3788Leu) single nucleotide variant Cardiovascular phenotype [RCV002321683]|Long QT syndrome [RCV000806812]|not provided [RCV000171735] Chr7:92105709 [GRCh38]
Chr7:91735023 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.2(chr7:91929250-92018542)x3 copy number gain See cases [RCV000140938] Chr7:91929250..92018542 [GRCh38]
Chr7:91558564..91647856 [GRCh37]
Chr7:91396500..91485792 [NCBI36]
Chr7:7q21.2		 uncertain significance
GRCh38/hg38 7q21.2(chr7:91954655-91988744)x3 copy number gain See cases [RCV000141779] Chr7:91954655..91988744 [GRCh38]
Chr7:91583969..91618058 [GRCh37]
Chr7:91421905..91455994 [NCBI36]
Chr7:7q21.2		 uncertain significance
GRCh38/hg38 7q21.2(chr7:92074326-92160217)x3 copy number gain See cases [RCV000143414] Chr7:92074326..92160217 [GRCh38]
Chr7:91703640..91789531 [GRCh37]
Chr7:91541576..91627467 [NCBI36]
Chr7:7q21.2		 uncertain significance
GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1 copy number loss See cases [RCV000143271] Chr7:84002634..95228883 [GRCh38]
Chr7:83631950..94858195 [GRCh37]
Chr7:83469886..94696131 [NCBI36]
Chr7:7q21.11-21.3		 pathogenic
NM_005751.5(AKAP9):c.73G>A (p.Ala25Thr) single nucleotide variant Ventricular tachycardia [RCV000157097] Chr7:91973735 [GRCh38]
Chr7:91603049 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1099G>A (p.Val367Met) single nucleotide variant Cardiac arrest [RCV000157098]|Cardiovascular phenotype [RCV002444648]|Long QT syndrome 2 [RCV000157099]|Long QT syndrome [RCV001086307]|not provided [RCV000170629]|not specified [RCV000185479] Chr7:92001016 [GRCh38]
Chr7:91630330 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.1489G>T (p.Glu497Ter) single nucleotide variant Long QT syndrome 11 [RCV000157100] Chr7:92001406 [GRCh38]
Chr7:91630720 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr) single nucleotide variant AKAP9-related disorder [RCV003975223]|Cardiovascular phenotype [RCV000621526]|Congenital long QT syndrome [RCV000302445]|Long QT syndrome 11 [RCV000477762]|Long QT syndrome [RCV000233886]|Ventricular fibrillation [RCV000157101]|not provided [RCV000171716]|not specified [RCV001192969] Chr7:92014296 [GRCh38]
Chr7:91643610 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly) single nucleotide variant AKAP9-related disorder [RCV003975224]|Cardiovascular phenotype [RCV000619474]|Congenital long QT syndrome [RCV000267992]|Long QT syndrome 11 [RCV001001550]|Long QT syndrome [RCV000168182]|Sudden cardiac death [RCV000157102]|not provided [RCV000170638]|not specified [RCV000185487] Chr7:92052726 [GRCh38]
Chr7:91682040 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.7314A>T (p.Glu2438Asp) single nucleotide variant Cardiovascular phenotype [RCV002381505]|Long QT syndrome [RCV000157103]|not provided [RCV001565846] Chr7:92079447 [GRCh38]
Chr7:91708761 [GRCh37]
Chr7:7q21.2		 benign|likely benign|uncertain significance
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile) single nucleotide variant Long QT syndrome 11 [RCV002484959]|Long QT syndrome [RCV000157104] Chr7:92083354 [GRCh38]
Chr7:91712668 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.11378C>G (p.Ser3793Cys) single nucleotide variant Cardiac arrest [RCV000157105]|Cardiovascular phenotype [RCV002453527]|Long QT syndrome 1 [RCV001256718]|Long QT syndrome [RCV001319706] Chr7:92105725 [GRCh38]
Chr7:91735039 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3953-3T>C single nucleotide variant Cardiovascular phenotype [RCV004019890]|Long QT syndrome 11 [RCV002498774]|Long QT syndrome [RCV000157106] Chr7:92022811 [GRCh38]
Chr7:91652125 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.883A>G (p.Thr295Ala) single nucleotide variant Cardiovascular phenotype [RCV000618639]|Long QT syndrome [RCV000168311]|not specified [RCV001269236] Chr7:91995753 [GRCh38]
Chr7:91625067 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=) single nucleotide variant Cardiovascular phenotype [RCV000617636]|Long QT syndrome 11 [RCV000625230]|Long QT syndrome [RCV001086580]|not provided [RCV000178555]|not specified [RCV001260416] Chr7:92099740 [GRCh38]
Chr7:91729054 [GRCh37]
Chr7:7q21.2		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.2295T>A (p.Asp765Glu) single nucleotide variant Long QT syndrome [RCV000190222] Chr7:92002212 [GRCh38]
Chr7:91631526 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_005751.5(AKAP9):c.5341T>A (p.Ser1781Thr) single nucleotide variant Long QT syndrome [RCV000190223] Chr7:92045186 [GRCh38]
Chr7:91674500 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_005751.5(AKAP9):c.6249C>T (p.Phe2083=) single nucleotide variant AKAP9-related disorder [RCV003937748]|Cardiovascular phenotype [RCV000248585]|Congenital long QT syndrome [RCV000328206]|Long QT syndrome 11 [RCV001001900]|Long QT syndrome [RCV000196841]|not provided [RCV001727631]|not specified [RCV001699002] Chr7:92066465 [GRCh38]
Chr7:91695779 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.10641C>A (p.Phe3547Leu) single nucleotide variant Cardiovascular phenotype [RCV002408883]|Long QT syndrome [RCV000198301] Chr7:92098142 [GRCh38]
Chr7:91727456 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10197T>C (p.Thr3399=) single nucleotide variant Cardiovascular phenotype [RCV000243061]|Long QT syndrome 11 [RCV001000128]|Long QT syndrome [RCV001088242]|not provided [RCV000198485]|not specified [RCV001699001] Chr7:92097156 [GRCh38]
Chr7:91726470 [GRCh37]
Chr7:7q21.2		 likely pathogenic|benign|likely benign
NM_005751.5(AKAP9):c.1396C>T (p.Arg466Trp) single nucleotide variant Cardiovascular phenotype [RCV002390537]|Long QT syndrome [RCV000200194]|not provided [RCV003884400] Chr7:92001313 [GRCh38]
Chr7:91630627 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.5283T>C (p.Ser1761=) single nucleotide variant Cardiovascular phenotype [RCV004629166]|not provided [RCV000200699] Chr7:92045128 [GRCh38]
Chr7:91674442 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.5369-3T>C single nucleotide variant Cardiovascular phenotype [RCV002350182]|Long QT syndrome 11 [RCV002476104]|Long QT syndrome [RCV000542815] Chr7:92052723 [GRCh38]
Chr7:91682037 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.3644C>T (p.Thr1215Ile) single nucleotide variant Long QT syndrome [RCV001228947] Chr7:92016160 [GRCh38]
Chr7:91645474 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3072G>C (p.Val1024=) single nucleotide variant Cardiovascular phenotype [RCV002319461]|Long QT syndrome [RCV000204548]|not specified [RCV004701269] Chr7:92002989 [GRCh38]
Chr7:91632303 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.747A>G (p.Glu249=) single nucleotide variant Cardiovascular phenotype [RCV000246934]|Congenital long QT syndrome [RCV000260119]|Long QT syndrome 11 [RCV002253289]|Long QT syndrome [RCV000204758]|not provided [RCV001711610]|not specified [RCV001582707] Chr7:91995617 [GRCh38]
Chr7:91624931 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005751.5(AKAP9):c.8575G>T (p.Val2859Phe) single nucleotide variant Long QT syndrome [RCV000205259] Chr7:92083584 [GRCh38]
Chr7:91712898 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3223T>C (p.Leu1075=) single nucleotide variant Cardiovascular phenotype [RCV000618805]|Long QT syndrome 11 [RCV002253290]|Long QT syndrome [RCV001084713]|not provided [RCV000755805]|not specified [RCV001293562] Chr7:92003140 [GRCh38]
Chr7:91632454 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.5978-4A>G single nucleotide variant AKAP9-related disorder [RCV003927876]|Cardiovascular phenotype [RCV000246728]|Congenital long QT syndrome [RCV000297662]|Long QT syndrome 11 [RCV000624952]|Long QT syndrome [RCV000205658]|not provided [RCV001706195]|not specified [RCV001553705] Chr7:92065227 [GRCh38]
Chr7:91694541 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.1262G>A (p.Arg421Gln) single nucleotide variant Long QT syndrome 11 [RCV002478740]|Long QT syndrome [RCV000203861] Chr7:92001179 [GRCh38]
Chr7:91630493 [GRCh37]
Chr7:7q21.2		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_005751.5(AKAP9):c.10163G>C (p.Arg3388Thr) single nucleotide variant Long QT syndrome [RCV000208196] Chr7:92097122 [GRCh38]
Chr7:91726436 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5272G>C (p.Asp1758His) single nucleotide variant Ventricular fibrillation [RCV000208209] Chr7:92045117 [GRCh38]
Chr7:91674431 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9338dup (p.Ser3114fs) duplication Long QT syndrome [RCV000208220] Chr7:92089508..92089509 [GRCh38]
Chr7:91718822..91718823 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5449G>A (p.Glu1817Lys) single nucleotide variant Cardiovascular phenotype [RCV002350184]|Long QT syndrome [RCV000544274] Chr7:92052806 [GRCh38]
Chr7:91682120 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8656A>G (p.Ile2886Val) single nucleotide variant Cardiovascular phenotype [RCV000622053]|Long QT syndrome [RCV001853291]|not specified [RCV000208371] Chr7:92084649 [GRCh38]
Chr7:91713963 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.11276C>T (p.Pro3759Leu) single nucleotide variant Cardiac arrest [RCV000208457] Chr7:92102772 [GRCh38]
Chr7:91732086 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9813C>T (p.Asn3271=) single nucleotide variant Cardiovascular phenotype [RCV003302784]|Long QT syndrome [RCV000543728] Chr7:92096772 [GRCh38]
Chr7:91726086 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1737T>G (p.Ser579=) single nucleotide variant Cardiovascular phenotype [RCV002413453]|Long QT syndrome [RCV001521371]|not provided [RCV000544836] Chr7:92001654 [GRCh38]
Chr7:91630968 [GRCh37]
Chr7:7q21.2		 benign|likely benign
GRCh37/hg19 7q21.12-21.2(chr7:87840219-91707100)x3 copy number gain Breast ductal adenocarcinoma [RCV000207288] Chr7:87840219..91707100 [GRCh37]
Chr7:7q21.12-21.2		 uncertain significance
NM_005751.5(AKAP9):c.9112C>T (p.Arg3038Cys) single nucleotide variant Long QT syndrome [RCV001853292]|not specified [RCV000208014] Chr7:92086315 [GRCh38]
Chr7:91715629 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1067A>T (p.Asp356Val) single nucleotide variant Cardiac arrest [RCV000208026]|Cardiovascular phenotype [RCV002408902]|Long QT syndrome [RCV003647761] Chr7:92000984 [GRCh38]
Chr7:91630298 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11498C>G (p.Ser3833Ter) single nucleotide variant Long QT syndrome [RCV000208034] Chr7:92107374 [GRCh38]
Chr7:91736688 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7469G>A (p.Gly2490Asp) single nucleotide variant Long QT syndrome [RCV000229824] Chr7:92079602 [GRCh38]
Chr7:91708916 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9915G>A (p.Glu3305=) single nucleotide variant Long QT syndrome [RCV001478492] Chr7:92096874 [GRCh38]
Chr7:91726188 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6382C>A (p.Leu2128Ile) single nucleotide variant Long QT syndrome [RCV000229651] Chr7:92070081 [GRCh38]
Chr7:91699395 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8189A>G (p.Gln2730Arg) single nucleotide variant Cardiovascular phenotype [RCV000250014]|Congenital long QT syndrome [RCV000330366]|Long QT syndrome 11 [RCV003224230]|Long QT syndrome [RCV003532061]|not specified [RCV000223781] Chr7:92083198 [GRCh38]
Chr7:91712512 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.10118C>G (p.Ser3373Cys) single nucleotide variant Cardiovascular phenotype [RCV003298286]|Long QT syndrome [RCV001854767]|not specified [RCV000223934] Chr7:92097077 [GRCh38]
Chr7:91726391 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.5048C>T (p.Thr1683Met) single nucleotide variant Cardiovascular phenotype [RCV002338738]|Long QT syndrome 11 [RCV000764727]|Long QT syndrome [RCV000231836]|not provided [RCV000255316] Chr7:92042176 [GRCh38]
Chr7:91671490 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.645A>G (p.Gln215=) single nucleotide variant AKAP9-related disorder [RCV003977668]|Cardiovascular phenotype [RCV002365201]|Long QT syndrome [RCV002057240] Chr7:91994689 [GRCh38]
Chr7:91624003 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1984C>T (p.His662Tyr) single nucleotide variant Cardiovascular phenotype [RCV002418015]|Long QT syndrome [RCV000230346] Chr7:92001901 [GRCh38]
Chr7:91631215 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9443C>T (p.Thr3148Met) single nucleotide variant Long QT syndrome [RCV000230579] Chr7:92093181 [GRCh38]
Chr7:91722495 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6966A>G (p.Glu2322=) single nucleotide variant Long QT syndrome [RCV001392557] Chr7:92079099 [GRCh38]
Chr7:91708413 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7683T>C (p.Leu2561=) single nucleotide variant Cardiovascular phenotype [RCV002401892]|Long QT syndrome 11 [RCV002253312]|Long QT syndrome [RCV001458594]|not provided [RCV000232605] Chr7:92079816 [GRCh38]
Chr7:91709130 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.3430T>C (p.Cys1144Arg) single nucleotide variant AKAP9-related disorder [RCV003907875]|Cardiovascular phenotype [RCV000618814]|Congenital long QT syndrome [RCV000401333]|Long QT syndrome [RCV000231082]|Ventricular tachycardia [RCV000853013] Chr7:92012540 [GRCh38]
Chr7:91641854 [GRCh37]
Chr7:7q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.8052A>G (p.Glu2684=) single nucleotide variant Long QT syndrome 11 [RCV002500790]|Long QT syndrome [RCV001489171] Chr7:92082554 [GRCh38]
Chr7:91711868 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9000G>T (p.Lys3000Asn) single nucleotide variant Long QT syndrome [RCV000233341] Chr7:92085662 [GRCh38]
Chr7:91714976 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9648A>G (p.Lys3216=) single nucleotide variant Cardiovascular phenotype [RCV000621715]|Congenital long QT syndrome [RCV000320983]|Long QT syndrome [RCV000233375]|not provided [RCV001711789]|not specified [RCV001280933] Chr7:92095092 [GRCh38]
Chr7:91724406 [GRCh37]
Chr7:7q21.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.4055A>T (p.Gln1352Leu) single nucleotide variant Long QT syndrome [RCV000232258] Chr7:92022916 [GRCh38]
Chr7:91652230 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1101G>A (p.Val367=) single nucleotide variant Long QT syndrome [RCV001501295] Chr7:92001018 [GRCh38]
Chr7:91630332 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5610T>C (p.His1870=) single nucleotide variant Cardiovascular phenotype [RCV000619619]|Congenital long QT syndrome [RCV000383455]|Long QT syndrome [RCV001484116]|not provided [RCV000858483]|not specified [RCV001699260] Chr7:92061268 [GRCh38]
Chr7:91690582 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.2589G>A (p.Glu863=) single nucleotide variant Cardiovascular phenotype [RCV002429119]|Long QT syndrome [RCV000227046] Chr7:92002506 [GRCh38]
Chr7:91631820 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.1242C>T (p.Phe414=) single nucleotide variant Long QT syndrome [RCV002055005] Chr7:92001159 [GRCh38]
Chr7:91630473 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.2311G>A (p.Ala771Thr) single nucleotide variant Cardiovascular phenotype [RCV000617362]|Long QT syndrome 11 [RCV002503910]|Long QT syndrome [RCV000234399]|not provided [RCV000998827]|not specified [RCV002282078] Chr7:92002228 [GRCh38]
Chr7:91631542 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.8646+8G>A single nucleotide variant Long QT syndrome [RCV001449141] Chr7:92083663 [GRCh38]
Chr7:91712977 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9181C>T (p.Leu3061=) single nucleotide variant Cardiovascular phenotype [RCV002444903]|Congenital long QT syndrome [RCV000370654]|Long QT syndrome [RCV002057241] Chr7:92086384 [GRCh38]
Chr7:91715698 [GRCh37]
Chr7:7q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.10236G>A (p.Val3412=) single nucleotide variant Long QT syndrome [RCV001467500] Chr7:92097195 [GRCh38]
Chr7:91726509 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.460C>A (p.Pro154Thr) single nucleotide variant Long QT syndrome [RCV001215053]|not provided [RCV000755800] Chr7:91992939 [GRCh38]
Chr7:91622253 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1859C>A (p.Ala620Asp) single nucleotide variant Long QT syndrome [RCV001215052]|not provided [RCV000756980] Chr7:92001776 [GRCh38]
Chr7:91631090 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8631T>G (p.Cys2877Trp) single nucleotide variant Cardiovascular phenotype [RCV003166009]|not provided [RCV000756982] Chr7:92083640 [GRCh38]
Chr7:91712954 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.28C>T (p.Leu10=) single nucleotide variant not provided [RCV000756983] Chr7:91941127 [GRCh38]
Chr7:91570441 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8585A>G (p.Gln2862Arg) single nucleotide variant Long QT syndrome [RCV001324827]|not provided [RCV000756984] Chr7:92083594 [GRCh38]
Chr7:91712908 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3994G>C (p.Glu1332Gln) single nucleotide variant Cardiovascular phenotype [RCV002325457]|Long QT syndrome 11 [RCV002500977]|Long QT syndrome [RCV002533801]|not provided [RCV000756985] Chr7:92022855 [GRCh38]
Chr7:91652169 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4259T>G (p.Phe1420Cys) single nucleotide variant AKAP9-related disorder [RCV003980199]|Cardiovascular phenotype [RCV000619763]|Long QT syndrome [RCV000631741] Chr7:92031525 [GRCh38]
Chr7:91660839 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3345C>G (p.Ala1115=) single nucleotide variant AKAP9-related disorder [RCV003928033]|Cardiovascular phenotype [RCV000619856]|Long QT syndrome [RCV001400976] Chr7:92012455 [GRCh38]
Chr7:91641769 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4099T>A (p.Cys1367Ser) single nucleotide variant Cardiovascular phenotype [RCV000621080]|Long QT syndrome [RCV003767785] Chr7:92022960 [GRCh38]
Chr7:91652274 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.4628A>T (p.Asp1543Val) single nucleotide variant Cardiovascular phenotype [RCV000620615] Chr7:92038708 [GRCh38]
Chr7:91668022 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10714-3C>T single nucleotide variant Cardiovascular phenotype [RCV000243591] Chr7:92099684 [GRCh38]
Chr7:91728998 [GRCh37]
Chr7:7q21.2		 benign|uncertain significance
NM_005751.5(AKAP9):c.4832C>T (p.Ala1611Val) single nucleotide variant Cardiovascular phenotype [RCV002334578]|Long QT syndrome [RCV002568851]|not provided [RCV001526846] Chr7:92040813 [GRCh38]
Chr7:91670127 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10880G>A (p.Gly3627Glu) single nucleotide variant Cardiovascular phenotype [RCV000243700]|Long QT syndrome [RCV001231910] Chr7:92099853 [GRCh38]
Chr7:91729167 [GRCh37]
Chr7:7q21.2		 benign|uncertain significance
NM_005751.5(AKAP9):c.5271A>G (p.Leu1757=) single nucleotide variant Cardiovascular phenotype [RCV000251084] Chr7:92045116 [GRCh38]
Chr7:91674430 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10406C>T (p.Thr3469Met) single nucleotide variant Cardiovascular phenotype [RCV000251135]|Long QT syndrome [RCV000862876] Chr7:92097593 [GRCh38]
Chr7:91726907 [GRCh37]
Chr7:7q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.11340T>C (p.Phe3780=) single nucleotide variant Long QT syndrome [RCV000525967] Chr7:92105687 [GRCh38]
Chr7:91735001 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7486A>G (p.Asn2496Asp) single nucleotide variant Cardiovascular phenotype [RCV000251256]|Long QT syndrome [RCV000817714] Chr7:92079619 [GRCh38]
Chr7:91708933 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.873AGA[1] (p.Glu292del) microsatellite Cardiovascular phenotype [RCV000251328]|Long QT syndrome [RCV001360028] Chr7:91995742..91995744 [GRCh38]
Chr7:91625056..91625058 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.4(AKAP9):c.872_874delAAG (p.Glu292del) deletion Cardiovascular phenotype [RCV000241618] Chr7:91995742..91995744 [GRCh38]
Chr7:91625056..91625058 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7775T>A (p.Leu2592Gln) single nucleotide variant Cardiovascular phenotype [RCV000248997]|Long QT syndrome [RCV001214283] Chr7:92079908 [GRCh38]
Chr7:91709222 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.4274A>C (p.Glu1425Ala) single nucleotide variant Long QT syndrome [RCV000528417] Chr7:92031540 [GRCh38]
Chr7:91660854 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5911G>A (p.Glu1971Lys) single nucleotide variant Cardiovascular phenotype [RCV000244190] Chr7:92062420 [GRCh38]
Chr7:91691734 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11617G>A (p.Asp3873Asn) single nucleotide variant Cardiovascular phenotype [RCV000249122] Chr7:92108564 [GRCh38]
Chr7:91737878 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2475T>G (p.Leu825=) single nucleotide variant Cardiovascular phenotype [RCV000251578]|Long QT syndrome [RCV001428159] Chr7:92002392 [GRCh38]
Chr7:91631706 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7243G>A (p.Val2415Ile) single nucleotide variant Cardiovascular phenotype [RCV000246887] Chr7:92079376 [GRCh38]
Chr7:91708690 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11580T>G (p.Gly3860=) single nucleotide variant AKAP9-related disorder [RCV003955398]|Cardiovascular phenotype [RCV000249384]|Congenital long QT syndrome [RCV000343246]|Long QT syndrome [RCV000376902]|not specified [RCV001804986] Chr7:92108527 [GRCh38]
Chr7:91737841 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.8485G>A (p.Glu2829Lys) single nucleotide variant Cardiovascular phenotype [RCV000251850]|Long QT syndrome 11 [RCV000625229]|Long QT syndrome [RCV001081330]|Restrictive cardiomyopathy [RCV000853021]|not provided [RCV000439400]|not specified [RCV001192963] Chr7:92083494 [GRCh38]
Chr7:91712808 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.1890A>G (p.Leu630=) single nucleotide variant Cardiovascular phenotype [RCV000254245]|Long QT syndrome [RCV001418269] Chr7:92001807 [GRCh38]
Chr7:91631121 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11234G>A (p.Gly3745Glu) single nucleotide variant Cardiovascular phenotype [RCV000254339]|Long QT syndrome 11 [RCV002494793]|Long QT syndrome [RCV000704774] Chr7:92102730 [GRCh38]
Chr7:91732044 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5616A>G (p.Lys1872=) single nucleotide variant Cardiovascular phenotype [RCV000249869] Chr7:92061274 [GRCh38]
Chr7:91690588 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2301A>G (p.Gln767=) single nucleotide variant Cardiovascular phenotype [RCV000252299]|not provided [RCV000864143] Chr7:92002218 [GRCh38]
Chr7:91631532 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4724A>T (p.Asp1575Val) single nucleotide variant Cardiovascular phenotype [RCV000249884]|Long QT syndrome [RCV001859447] Chr7:92040705 [GRCh38]
Chr7:91670019 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4696C>A (p.His1566Asn) single nucleotide variant Cardiovascular phenotype [RCV000242820] Chr7:92040677 [GRCh38]
Chr7:91669991 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8688G>A (p.Gln2896=) single nucleotide variant AKAP9-related disorder [RCV003909891]|Cardiovascular phenotype [RCV000245232]|Long QT syndrome [RCV002521849] Chr7:92084681 [GRCh38]
Chr7:91713995 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4396G>A (p.Gly1466Arg) single nucleotide variant Cardiovascular phenotype [RCV000247725]|Long QT syndrome [RCV000819090] Chr7:92038476 [GRCh38]
Chr7:91667790 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7628T>C (p.Leu2543Pro) single nucleotide variant Cardiovascular phenotype [RCV000252644]|Long QT syndrome 11 [RCV002487140]|Long QT syndrome [RCV002518678] Chr7:92079761 [GRCh38]
Chr7:91709075 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.5568A>T (p.Lys1856Asn) single nucleotide variant Cardiovascular phenotype [RCV000242971] Chr7:92052925 [GRCh38]
Chr7:91682239 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6696A>G (p.Gln2232=) single nucleotide variant Cardiovascular phenotype [RCV000245408]|Long QT syndrome 11 [RCV002253339]|Long QT syndrome [RCV000550430]|not provided [RCV001534470] Chr7:92076938 [GRCh38]
Chr7:91706252 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.11316C>T (p.Ser3772=) single nucleotide variant Cardiovascular phenotype [RCV002323920]|Long QT syndrome [RCV002060295] Chr7:92102812 [GRCh38]
Chr7:91732126 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8677G>C (p.Asp2893His) single nucleotide variant Cardiovascular phenotype [RCV002448630]|Long QT syndrome [RCV000529741]|not provided [RCV000786278] Chr7:92084670 [GRCh38]
Chr7:91713984 [GRCh37]
Chr7:7q21.2		 benign|uncertain significance
NM_005751.4(AKAP9):c.4003_4004insAAC (p.Lys1335_Leu1336insGln) insertion Cardiovascular phenotype [RCV000243039] Chr7:92022864..92022865 [GRCh38]
Chr7:91652178..91652179 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.2782T>C (p.Leu928=) single nucleotide variant Cardiovascular phenotype [RCV000247931]|Congenital long QT syndrome [RCV000383341]|Long QT syndrome 11 [RCV002253337]|Long QT syndrome [RCV000328795]|not provided [RCV001711844]|not specified [RCV001192968] Chr7:92002699 [GRCh38]
Chr7:91632013 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005751.5(AKAP9):c.8336C>T (p.Ala2779Val) single nucleotide variant Cardiovascular phenotype [RCV000247946] Chr7:92083345 [GRCh38]
Chr7:91712659 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6921A>G (p.Gln2307=) single nucleotide variant Cardiovascular phenotype [RCV000252879]|Long QT syndrome 11 [RCV002253332]|Long QT syndrome [RCV001079408]|not provided [RCV000755802]|not specified [RCV001174573] Chr7:92077851 [GRCh38]
Chr7:91707165 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.948A>G (p.Val316=) single nucleotide variant Cardiovascular phenotype [RCV000245713]|Long QT syndrome 11 [RCV002253338]|Long QT syndrome [RCV000631743]|not provided [RCV001537127]|not specified [RCV001795469] Chr7:92000865 [GRCh38]
Chr7:91630179 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.4360G>A (p.Ala1454Thr) single nucleotide variant Cardiovascular phenotype [RCV000248203]|Long QT syndrome 11 [RCV002487149]|not provided [RCV000487224] Chr7:92038440 [GRCh38]
Chr7:91667754 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1651A>G (p.Ile551Val) single nucleotide variant Cardiovascular phenotype [RCV000248212]|Long QT syndrome [RCV000863479]|not specified [RCV000376422] Chr7:92001568 [GRCh38]
Chr7:91630882 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3068T>A (p.Val1023Asp) single nucleotide variant Cardiovascular phenotype [RCV000248261] Chr7:92002985 [GRCh38]
Chr7:91632299 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2865G>A (p.Leu955=) single nucleotide variant Cardiovascular phenotype [RCV000248302] Chr7:92002782 [GRCh38]
Chr7:91632096 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2793T>A (p.Gly931=) single nucleotide variant Cardiovascular phenotype [RCV000250842]|Long QT syndrome [RCV001468785] Chr7:92002710 [GRCh38]
Chr7:91632024 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7474G>A (p.Gly2492Ser) single nucleotide variant Long QT syndrome [RCV000527912] Chr7:92079607 [GRCh38]
Chr7:91708921 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2328G>A (p.Glu776=) single nucleotide variant Cardiovascular phenotype [RCV002446612]|Congenital long QT syndrome [RCV000298587]|Long QT syndrome [RCV002524535] Chr7:92002245 [GRCh38]
Chr7:91631559 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.10901C>G (p.Ser3634Cys) single nucleotide variant Congenital long QT syndrome [RCV000301608] Chr7:92100860 [GRCh38]
Chr7:91730174 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5725G>A (p.Ala1909Thr) single nucleotide variant Cardiovascular phenotype [RCV000620066]|Congenital long QT syndrome [RCV000394468]|Long QT syndrome [RCV000294866] Chr7:92061383 [GRCh38]
Chr7:91690697 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.10710A>G (p.Glu3570=) single nucleotide variant Cardiovascular phenotype [RCV000620601]|Congenital long QT syndrome [RCV000333928]|Long QT syndrome [RCV002523602] Chr7:92098211 [GRCh38]
Chr7:91727525 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.9358+10A>G single nucleotide variant AKAP9-related disorder [RCV003957850]|Congenital long QT syndrome [RCV000268295]|Long QT syndrome [RCV000379174]|not provided [RCV001563015] Chr7:92089539 [GRCh38]
Chr7:91718853 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.-160G>A single nucleotide variant Congenital long QT syndrome [RCV000284576]|Long QT syndrome 11 [RCV002504181] Chr7:91940940 [GRCh38]
Chr7:91570254 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10608-15G>C single nucleotide variant Congenital long QT syndrome [RCV000322405]|Long QT syndrome 11 [RCV002253390]|Long QT syndrome [RCV002058677]|not provided [RCV001712548]|not specified [RCV001193560] Chr7:92098094 [GRCh38]
Chr7:91727408 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.4253G>A (p.Gly1418Asp) single nucleotide variant Cardiovascular phenotype [RCV002328877]|Congenital long QT syndrome [RCV000346490]|Long QT syndrome 11 [RCV002481237]|Long QT syndrome [RCV001861308] Chr7:92031519 [GRCh38]
Chr7:91660833 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.4293G>A (p.Leu1431=) single nucleotide variant AKAP9-related disorder [RCV003922603]|Cardiovascular phenotype [RCV000618070]|Congenital long QT syndrome [RCV000370962]|Long QT syndrome [RCV000307033] Chr7:92031559 [GRCh38]
Chr7:91660873 [GRCh37]
Chr7:7q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.9229G>A (p.Ala3077Thr) single nucleotide variant Congenital long QT syndrome [RCV000317358]|Long QT syndrome [RCV000259827] Chr7:92089400 [GRCh38]
Chr7:91718714 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5227G>A (p.Ala1743Thr) single nucleotide variant Cardiovascular phenotype [RCV002338951]|Congenital long QT syndrome [RCV000317260]|Long QT syndrome [RCV000353329] Chr7:92045072 [GRCh38]
Chr7:91674386 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3318+13C>A single nucleotide variant Congenital long QT syndrome [RCV000336078]|Long QT syndrome 11 [RCV002253389]|Long QT syndrome [RCV002058676]|not provided [RCV001712761]|not specified [RCV001192821] Chr7:92003248 [GRCh38]
Chr7:91632562 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.11549A>G (p.Tyr3850Cys) single nucleotide variant AKAP9-related disorder [RCV004745360]|Cardiovascular phenotype [RCV004022059]|Congenital long QT syndrome [RCV000373196] Chr7:92108496 [GRCh38]
Chr7:91737810 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.11331-11A>T single nucleotide variant Congenital long QT syndrome [RCV000374132]|Long QT syndrome 11 [RCV002253392]|Long QT syndrome [RCV002058678]|not provided [RCV001709633]|not specified [RCV004701449] Chr7:92105667 [GRCh38]
Chr7:91734981 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.6376A>C (p.Ser2126Arg) single nucleotide variant Cardiovascular phenotype [RCV002365423]|Congenital long QT syndrome [RCV000288501]|not specified [RCV003987521] Chr7:92070075 [GRCh38]
Chr7:91699389 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10221G>A (p.Glu3407=) single nucleotide variant Cardiovascular phenotype [RCV000620597]|Congenital long QT syndrome [RCV000349420]|Long QT syndrome [RCV000292187] Chr7:92097180 [GRCh38]
Chr7:91726494 [GRCh37]
Chr7:7q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.5722A>G (p.Arg1908Gly) single nucleotide variant Cardiovascular phenotype [RCV003168562]|Congenital long QT syndrome [RCV000288990]|Long QT syndrome [RCV000344004] Chr7:92061380 [GRCh38]
Chr7:91690694 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.10107T>C (p.Tyr3369=) single nucleotide variant Cardiovascular phenotype [RCV002446614]|Congenital long QT syndrome [RCV000289614]|Long QT syndrome [RCV001506175]|not provided [RCV003437129] Chr7:92097066 [GRCh38]
Chr7:91726380 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.10924G>T (p.Ala3642Ser) single nucleotide variant Congenital long QT syndrome [RCV000358705] Chr7:92100883 [GRCh38]
Chr7:91730197 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3708A>T (p.Glu1236Asp) single nucleotide variant Cardiovascular phenotype [RCV004022058]|Congenital long QT syndrome [RCV000308447]|Long QT syndrome [RCV001861307] Chr7:92016224 [GRCh38]
Chr7:91645538 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9170C>A (p.Ala3057Glu) single nucleotide variant Congenital long QT syndrome [RCV000401315] Chr7:92086373 [GRCh38]
Chr7:91715687 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3932T>A (p.Met1311Lys) single nucleotide variant Cardiovascular phenotype [RCV002374599]|Congenital long QT syndrome [RCV000274391] Chr7:92022332 [GRCh38]
Chr7:91651646 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.-124G>C single nucleotide variant Congenital long QT syndrome [RCV000380555]|Long QT syndrome 11 [RCV002253388]|not provided [RCV001618658] Chr7:91940976 [GRCh38]
Chr7:91570290 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.4164G>A (p.Ser1388=) single nucleotide variant Cardiovascular phenotype [RCV000619602]|Congenital long QT syndrome [RCV000380417]|Long QT syndrome [RCV001521431] Chr7:92029910 [GRCh38]
Chr7:91659224 [GRCh37]
Chr7:7q21.2		 benign|uncertain significance
NM_005751.5(AKAP9):c.11229G>T (p.Met3743Ile) single nucleotide variant Cardiovascular phenotype [RCV000619623]|Congenital long QT syndrome [RCV000332448]|Long QT syndrome [RCV000270370] Chr7:92102725 [GRCh38]
Chr7:91732039 [GRCh37]
Chr7:7q21.2		 benign|uncertain significance
NM_005751.5(AKAP9):c.5895G>A (p.Glu1965=) single nucleotide variant AKAP9-related disorder [RCV003972520]|Cardiovascular phenotype [RCV002356490]|Congenital long QT syndrome [RCV000356054]|Long QT syndrome [RCV000301195] Chr7:92062404 [GRCh38]
Chr7:91691718 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.9214-6T>C single nucleotide variant Congenital long QT syndrome [RCV000357166]|Long QT syndrome [RCV000299936]|not specified [RCV000506297] Chr7:92089379 [GRCh38]
Chr7:91718693 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.158A>G (p.His53Arg) single nucleotide variant Cardiovascular phenotype [RCV002402074]|Congenital long QT syndrome [RCV000365707]|Long QT syndrome [RCV001416532]|not specified [RCV000440741] Chr7:91973820 [GRCh38]
Chr7:91603134 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.6896A>G (p.Glu2299Gly) single nucleotide variant Cardiovascular phenotype [RCV002365424]|Congenital long QT syndrome [RCV000294466]|Long QT syndrome 11 [RCV000506888]|Long QT syndrome [RCV000337725] Chr7:92077826 [GRCh38]
Chr7:91707140 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.6946-12A>G single nucleotide variant Congenital long QT syndrome [RCV000336412]|Long QT syndrome [RCV000400543] Chr7:92079067 [GRCh38]
Chr7:91708381 [GRCh37]
Chr7:7q21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.-120G>A single nucleotide variant Congenital long QT syndrome [RCV000336359] Chr7:91940980 [GRCh38]
Chr7:91570294 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10845G>A (p.Lys3615=) single nucleotide variant Cardiovascular phenotype [RCV000619531]|Congenital long QT syndrome [RCV000338122]|Long QT syndrome 11 [RCV002253391]|Long QT syndrome [RCV000398985]|not provided [RCV000755804] Chr7:92099818 [GRCh38]
Chr7:91729132 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005751.5(AKAP9):c.8161-6T>A single nucleotide variant Congenital long QT syndrome [RCV000369912]|Long QT syndrome [RCV001465275] Chr7:92083164 [GRCh38]
Chr7:91712478 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.11335A>C (p.Lys3779Gln) single nucleotide variant Congenital long QT syndrome [RCV000282286]|Long QT syndrome [RCV001850917] Chr7:92105682 [GRCh38]
Chr7:91734996 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.-211C>A single nucleotide variant Congenital long QT syndrome [RCV000271816] Chr7:91940889 [GRCh38]
Chr7:91570203 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5496A>G (p.Gly1832=) single nucleotide variant Cardiovascular phenotype [RCV002348112]|Congenital long QT syndrome [RCV000283253]|Long QT syndrome 11 [RCV002480246]|Long QT syndrome [RCV002519509] Chr7:92052853 [GRCh38]
Chr7:91682167 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.7556A>G (p.Tyr2519Cys) single nucleotide variant Congenital long QT syndrome [RCV000269240] Chr7:92079689 [GRCh38]
Chr7:91709003 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6446_6447del (p.Leu2149fs) deletion Cardiovascular phenotype [RCV003310951] Chr7:92070145..92070146 [GRCh38]
Chr7:91699459..91699460 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6815C>T (p.Ser2272Phe) single nucleotide variant Cardiovascular phenotype [RCV003310967] Chr7:92077745 [GRCh38]
Chr7:91707059 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.811C>G (p.Leu271Val) single nucleotide variant Cardiovascular phenotype [RCV003310968] Chr7:91995681 [GRCh38]
Chr7:91624995 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1337T>G (p.Val446Gly) single nucleotide variant Cardiovascular phenotype [RCV003310979] Chr7:92001254 [GRCh38]
Chr7:91630568 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3800A>G (p.Tyr1267Cys) single nucleotide variant Cardiovascular phenotype [RCV003310985] Chr7:92017065 [GRCh38]
Chr7:91646379 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10392T>C (p.Leu3464=) single nucleotide variant Long QT syndrome [RCV000548432] Chr7:92097351 [GRCh38]
Chr7:91726665 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6507+196TTGTT[5] microsatellite not provided [RCV001567469] Chr7:92070402..92070421 [GRCh38]
Chr7:91699716..91699735 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.485G>C (p.Ser162Thr) single nucleotide variant Cardiovascular phenotype [RCV002341268]|Long QT syndrome [RCV000555172] Chr7:91992964 [GRCh38]
Chr7:91622278 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5535C>T (p.Asn1845=) single nucleotide variant Cardiovascular phenotype [RCV003310966] Chr7:92052892 [GRCh38]
Chr7:91682206 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8604T>C (p.Cys2868=) single nucleotide variant Cardiovascular phenotype [RCV003310983] Chr7:92083613 [GRCh38]
Chr7:91712927 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8502A>G (p.Leu2834=) single nucleotide variant Cardiovascular phenotype [RCV003310989] Chr7:92083511 [GRCh38]
Chr7:91712825 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6188A>G (p.Glu2063Gly) single nucleotide variant not provided [RCV000488129] Chr7:92065441 [GRCh38]
Chr7:91694755 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1183A>G (p.Lys395Glu) single nucleotide variant Cardiovascular phenotype [RCV003168561]|Congenital long QT syndrome [RCV000345420]|Long QT syndrome [RCV000290430] Chr7:92001100 [GRCh38]
Chr7:91630414 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1644A>G (p.Arg548=) single nucleotide variant Congenital long QT syndrome [RCV000399538]|Long QT syndrome [RCV002058675] Chr7:92001561 [GRCh38]
Chr7:91630875 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.7430_7432delinsAA (p.Leu2477fs) indel Cardiovascular phenotype [RCV000619574] Chr7:92079563..92079565 [GRCh38]
Chr7:91708877..91708879 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.*116A>T single nucleotide variant Congenital long QT syndrome [RCV000400313] Chr7:92110275 [GRCh38]
Chr7:91739589 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3874T>C (p.Phe1292Leu) single nucleotide variant Congenital long QT syndrome [RCV000331936]|Long QT syndrome [RCV001850916] Chr7:92022274 [GRCh38]
Chr7:91651588 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.-214CGG[6] microsatellite Congenital long QT syndrome [RCV000363979]|Long QT syndrome [RCV000325740]|not provided [RCV001563216] Chr7:91940883..91940884 [GRCh38]
Chr7:91570197..91570198 [GRCh37]
Chr7:7q21.2		 benign|likely benign|uncertain significance
NM_005751.5(AKAP9):c.-105C>T single nucleotide variant Congenital long QT syndrome [RCV000401695] Chr7:91940995 [GRCh38]
Chr7:91570309 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3278A>G (p.Asp1093Gly) single nucleotide variant Congenital long QT syndrome [RCV000349102] Chr7:92003195 [GRCh38]
Chr7:91632509 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8524A>G (p.Met2842Val) single nucleotide variant Cardiovascular phenotype [RCV002446613]|Congenital long QT syndrome [RCV000319474]|Long QT syndrome [RCV000371789] Chr7:92083533 [GRCh38]
Chr7:91712847 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6888A>G (p.Gln2296=) single nucleotide variant Congenital long QT syndrome [RCV000334232] Chr7:92077818 [GRCh38]
Chr7:91707132 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7340C>G (p.Pro2447Arg) single nucleotide variant Cardiovascular phenotype [RCV003310953] Chr7:92079473 [GRCh38]
Chr7:91708787 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7139A>C (p.Glu2380Ala) single nucleotide variant Cardiovascular phenotype [RCV003310958] Chr7:92079272 [GRCh38]
Chr7:91708586 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.*79T>C single nucleotide variant Congenital long QT syndrome [RCV000307177] Chr7:92110238 [GRCh38]
Chr7:91739552 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.*462T>A single nucleotide variant Congenital long QT syndrome [RCV000370317] Chr7:92110621 [GRCh38]
Chr7:91739935 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.-107C>T single nucleotide variant Congenital long QT syndrome [RCV000389947] Chr7:91940993 [GRCh38]
Chr7:91570307 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.*494G>T single nucleotide variant Congenital long QT syndrome [RCV000298063] Chr7:92110653 [GRCh38]
Chr7:91739967 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2370G>A (p.Met790Ile) single nucleotide variant Cardiovascular phenotype [RCV004629235]|Long QT syndrome [RCV000552739]|not provided [RCV000786087] Chr7:92002287 [GRCh38]
Chr7:91631601 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.674T>C (p.Met225Thr) single nucleotide variant Cardiovascular phenotype [RCV000619608]|Long QT syndrome 11 [RCV002491322]|Long QT syndrome [RCV001057855] Chr7:91994718 [GRCh38]
Chr7:91624032 [GRCh37]
Chr7:7q21.2		 benign|uncertain significance
NM_005751.5(AKAP9):c.2964A>T (p.Glu988Asp) single nucleotide variant Congenital long QT syndrome [RCV000325248] Chr7:92002881 [GRCh38]
Chr7:91632195 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8995A>G (p.Thr2999Ala) single nucleotide variant Congenital long QT syndrome [RCV000340650] Chr7:92085657 [GRCh38]
Chr7:91714971 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1398G>A (p.Arg466=) single nucleotide variant Cardiovascular phenotype [RCV000620345]|Long QT syndrome [RCV001436212] Chr7:92001315 [GRCh38]
Chr7:91630629 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1457A>T (p.Asp486Val) single nucleotide variant Cardiovascular phenotype [RCV000620509]|Long QT syndrome [RCV003767773] Chr7:92001374 [GRCh38]
Chr7:91630688 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4534GAA[1] (p.Glu1513del) microsatellite Cardiovascular phenotype [RCV000619407]|Congenital long QT syndrome [RCV000311322]|Long QT syndrome 11 [RCV002481238]|Long QT syndrome [RCV000407137] Chr7:92038612..92038614 [GRCh38]
Chr7:91667926..91667928 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1671A>G (p.Lys557=) single nucleotide variant Congenital long QT syndrome [RCV000356880] Chr7:92001588 [GRCh38]
Chr7:91630902 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1259A>G (p.Gln420Arg) single nucleotide variant Cardiovascular phenotype [RCV000620623]|Long QT syndrome [RCV001327578] Chr7:92001176 [GRCh38]
Chr7:91630490 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.656_660del (p.Arg219fs) deletion Cardiovascular phenotype [RCV000621192]|Long QT syndrome [RCV001855260] Chr7:91994696..91994700 [GRCh38]
Chr7:91624010..91624014 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2407T>C (p.Leu803=) single nucleotide variant Cardiovascular phenotype [RCV000621782]|Long QT syndrome [RCV001425990] Chr7:92002324 [GRCh38]
Chr7:91631638 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.931-8del deletion Congenital long QT syndrome [RCV000379206]|Long QT syndrome [RCV000284777] Chr7:92000833 [GRCh38]
Chr7:91630147 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8398A>G (p.Lys2800Glu) single nucleotide variant Cardiovascular phenotype [RCV000622175] Chr7:92083407 [GRCh38]
Chr7:91712721 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9710G>A (p.Arg3237Gln) single nucleotide variant Cardiovascular phenotype [RCV002377333]|Long QT syndrome [RCV000622915] Chr7:92095154 [GRCh38]
Chr7:91724468 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7208A>G (p.Glu2403Gly) single nucleotide variant Cardiovascular phenotype [RCV000617688]|Heart failure [RCV000853020]|Long QT syndrome [RCV000631799] Chr7:92079341 [GRCh38]
Chr7:91708655 [GRCh37]
Chr7:7q21.2		 benign|likely benign|uncertain significance
NM_005751.5(AKAP9):c.7915A>G (p.Lys2639Glu) single nucleotide variant Cardiovascular phenotype [RCV000617216]|Long QT syndrome [RCV002531793]|not provided [RCV004691941] Chr7:92080048 [GRCh38]
Chr7:91709362 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5293T>A (p.Ser1765Thr) single nucleotide variant Cardiovascular phenotype [RCV000619530] Chr7:92045138 [GRCh38]
Chr7:91674452 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4693-10A>T single nucleotide variant Long QT syndrome [RCV000528772]|not provided [RCV001548056] Chr7:92040664 [GRCh38]
Chr7:91669978 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3083G>A (p.Ser1028Asn) single nucleotide variant Cardiovascular phenotype [RCV000619704]|Long QT syndrome 11 [RCV002491323]|Long QT syndrome [RCV001214650] Chr7:92003000 [GRCh38]
Chr7:91632314 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11250G>A (p.Thr3750=) single nucleotide variant Cardiovascular phenotype [RCV000619908]|Long QT syndrome [RCV002066941] Chr7:92102746 [GRCh38]
Chr7:91732060 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5271A>T (p.Leu1757=) single nucleotide variant Cardiovascular phenotype [RCV000620775] Chr7:92045116 [GRCh38]
Chr7:91674430 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11484T>A (p.His3828Gln) single nucleotide variant Cardiovascular phenotype [RCV000620823]|Long QT syndrome [RCV000981693] Chr7:92107360 [GRCh38]
Chr7:91736674 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11234G>T (p.Gly3745Val) single nucleotide variant Cardiovascular phenotype [RCV000620944]|Long QT syndrome [RCV002066925] Chr7:92102730 [GRCh38]
Chr7:91732044 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.9664T>G (p.Trp3222Gly) single nucleotide variant Cardiovascular phenotype [RCV000621479]|Long QT syndrome [RCV001351319] Chr7:92095108 [GRCh38]
Chr7:91724422 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4800A>G (p.Glu1600=) single nucleotide variant Cardiovascular phenotype [RCV002334011]|Long QT syndrome [RCV000631734]|not provided [RCV001719092] Chr7:92040781 [GRCh38]
Chr7:91670095 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6915G>A (p.Gln2305=) single nucleotide variant Long QT syndrome [RCV000534599] Chr7:92077845 [GRCh38]
Chr7:91707159 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5528T>C (p.Met1843Thr) single nucleotide variant Cardiovascular phenotype [RCV002350186]|Long QT syndrome [RCV000537606] Chr7:92052885 [GRCh38]
Chr7:91682199 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1334T>C (p.Ile445Thr) single nucleotide variant Cardiovascular phenotype [RCV002384056]|Long QT syndrome 11 [RCV002476103]|Long QT syndrome [RCV000556054]|not provided [RCV001508213] Chr7:92001251 [GRCh38]
Chr7:91630565 [GRCh37]
Chr7:7q21.2		 benign|uncertain significance
NM_005751.5(AKAP9):c.2945C>A (p.Ser982Tyr) single nucleotide variant AKAP9-related disorder [RCV003979946]|Cardiovascular phenotype [RCV002438304]|Long QT syndrome [RCV001432207]|not specified [RCV000623781] Chr7:92002862 [GRCh38]
Chr7:91632176 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.48+5GA[3] microsatellite Long QT syndrome [RCV000541208] Chr7:91941151..91941152 [GRCh38]
Chr7:91570465..91570466 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
NM_005751.5(AKAP9):c.5505A>G (p.Ile1835Met) single nucleotide variant Cardiovascular phenotype [RCV002348182]|Long QT syndrome [RCV001861516]|not provided [RCV000437144] Chr7:92052862 [GRCh38]
Chr7:91682176 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4872A>G (p.Glu1624=) single nucleotide variant Cardiovascular phenotype [RCV002339000]|Long QT syndrome [RCV003647769]|not provided [RCV001703543]|not specified [RCV001729583] Chr7:92040853 [GRCh38]
Chr7:91670167 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.8079T>C (p.Ala2693=) single nucleotide variant Cardiovascular phenotype [RCV000622221]|Long QT syndrome [RCV000460293] Chr7:92082581 [GRCh38]
Chr7:91711895 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1048G>T (p.Asp350Tyr) single nucleotide variant Long QT syndrome [RCV000461215] Chr7:92000965 [GRCh38]
Chr7:91630279 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3329G>C (p.Arg1110Thr) single nucleotide variant Long QT syndrome 1 [RCV001256722]|Long QT syndrome [RCV000462090] Chr7:92012439 [GRCh38]
Chr7:91641753 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9127G>A (p.Ala3043Thr) single nucleotide variant AKAP9-related disorder [RCV003902716]|Cardiovascular phenotype [RCV000619225]|Long QT syndrome [RCV000463326]|not specified [RCV001280935] Chr7:92086330 [GRCh38]
Chr7:91715644 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.41A>C (p.Lys14Thr) single nucleotide variant Cardiovascular phenotype [RCV000622237]|Long QT syndrome 11 [RCV002481477]|Long QT syndrome [RCV000463369]|not provided [RCV003437208] Chr7:91941140 [GRCh38]
Chr7:91570454 [GRCh37]
Chr7:7q21.2		 benign|likely benign|uncertain significance
NM_005751.5(AKAP9):c.7166A>G (p.Asp2389Gly) single nucleotide variant Cardiovascular phenotype [RCV000618311]|Long QT syndrome 11 [RCV001000823]|Long QT syndrome [RCV000463629] Chr7:92079299 [GRCh38]
Chr7:91708613 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.5468A>T (p.Gln1823Leu) single nucleotide variant Cardiovascular phenotype [RCV003298510]|Long QT syndrome 11 [RCV002481476]|Long QT syndrome [RCV000464491] Chr7:92052825 [GRCh38]
Chr7:91682139 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9358+10A>T single nucleotide variant Long QT syndrome [RCV000465227] Chr7:92089539 [GRCh38]
Chr7:91718853 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8975C>T (p.Ser2992Leu) single nucleotide variant AKAP9-related disorder [RCV003902715]|Cardiovascular phenotype [RCV002446913]|Hypertrophic cardiomyopathy [RCV000853022]|Long QT syndrome [RCV000465467]|not provided [RCV004705618]|not specified [RCV004701524] Chr7:92085637 [GRCh38]
Chr7:91714951 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6331-8T>C single nucleotide variant Long QT syndrome 11 [RCV002253457]|Long QT syndrome [RCV000466560]|not provided [RCV001653855]|not specified [RCV001269124] Chr7:92070022 [GRCh38]
Chr7:91699336 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.3624T>C (p.Ser1208=) single nucleotide variant Cardiovascular phenotype [RCV000621390]|Long QT syndrome 11 [RCV002253458]|Long QT syndrome [RCV000466951]|not provided [RCV004705619]|not specified [RCV004701525] Chr7:92016140 [GRCh38]
Chr7:91645454 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.5428A>G (p.Met1810Val) single nucleotide variant AKAP9-related disorder [RCV003942575]|Cardiovascular phenotype [RCV000621785]|Long QT syndrome 11 [RCV002253456]|Long QT syndrome [RCV000467223]|not provided [RCV004705617]|not specified [RCV003155198] Chr7:92052785 [GRCh38]
Chr7:91682099 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.4189C>G (p.Gln1397Glu) single nucleotide variant Cardiovascular phenotype [RCV000621830]|Long QT syndrome 11 [RCV000477859]|Long QT syndrome [RCV001851129] Chr7:92029935 [GRCh38]
Chr7:91659249 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6022G>A (p.Val2008Ile) single nucleotide variant Long QT syndrome [RCV000468019] Chr7:92065275 [GRCh38]
Chr7:91694589 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4917+14del deletion Long QT syndrome [RCV002063767]|not provided [RCV001704629] Chr7:92040912 [GRCh38]
Chr7:91670226 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5639G>A (p.Arg1880His) single nucleotide variant Cardiovascular phenotype [RCV000621312]|Long QT syndrome [RCV000468873] Chr7:92061297 [GRCh38]
Chr7:91690611 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6536T>C (p.Val2179Ala) single nucleotide variant Cardiovascular phenotype [RCV003168863]|Long QT syndrome [RCV000469665] Chr7:92070933 [GRCh38]
Chr7:91700247 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10518C>T (p.Thr3506=) single nucleotide variant Cardiovascular phenotype [RCV002402368]|Long QT syndrome [RCV001401825]|not provided [RCV003437225] Chr7:92097705 [GRCh38]
Chr7:91727019 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5233G>C (p.Val1745Leu) single nucleotide variant Long QT syndrome [RCV000469998]|not provided [RCV000786090] Chr7:92045078 [GRCh38]
Chr7:91674392 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5928G>A (p.Leu1976=) single nucleotide variant Cardiovascular phenotype [RCV003168930]|Long QT syndrome [RCV001088386] Chr7:92062437 [GRCh38]
Chr7:91691751 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.61C>T (p.Arg21Ter) single nucleotide variant Long QT syndrome 11 [RCV002481474]|Long QT syndrome [RCV000471814]|not provided [RCV002223851] Chr7:91973723 [GRCh38]
Chr7:91603037 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5802T>C (p.Phe1934=) single nucleotide variant Long QT syndrome [RCV001460822] Chr7:92062311 [GRCh38]
Chr7:91691625 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys) single nucleotide variant Cardiomyopathy [RCV000853016]|Cardiovascular phenotype [RCV002356758]|Long QT syndrome [RCV001083739]|not provided [RCV000508496]|not specified [RCV001778972] Chr7:92065299 [GRCh38]
Chr7:91694613 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.5284A>G (p.Lys1762Glu) single nucleotide variant AKAP9-related disorder [RCV003932770]|Cardiovascular phenotype [RCV002350044]|Long QT syndrome [RCV000472578]|not specified [RCV000507184] Chr7:92045129 [GRCh38]
Chr7:91674443 [GRCh37]
Chr7:7q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.9359-4G>A single nucleotide variant Long QT syndrome [RCV001443941] Chr7:92093093 [GRCh38]
Chr7:91722407 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5301C>T (p.Ala1767=) single nucleotide variant Cardiovascular phenotype [RCV002350043]|Long QT syndrome [RCV000473053] Chr7:92045146 [GRCh38]
Chr7:91674460 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9711G>T (p.Arg3237=) single nucleotide variant Cardiovascular phenotype [RCV002374875]|Long QT syndrome [RCV000473150] Chr7:92095155 [GRCh38]
Chr7:91724469 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9857C>T (p.Ala3286Val) single nucleotide variant Cardiovascular phenotype [RCV002383833]|Long QT syndrome [RCV000474314] Chr7:92096816 [GRCh38]
Chr7:91726130 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.431C>G (p.Ser144Cys) single nucleotide variant Cardiovascular phenotype [RCV002329081]|Long QT syndrome [RCV000474587] Chr7:91992910 [GRCh38]
Chr7:91622224 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6905C>T (p.Thr2302Met) single nucleotide variant Cardiovascular phenotype [RCV000620675]|Long QT syndrome [RCV000476416]|not specified [RCV001328360] Chr7:92077835 [GRCh38]
Chr7:91707149 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.11157G>A (p.Lys3719=) single nucleotide variant Cardiovascular phenotype [RCV002436521]|Long QT syndrome [RCV001464379] Chr7:92102653 [GRCh38]
Chr7:91731967 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6134A>G (p.Asn2045Ser) single nucleotide variant AKAP9-related disorder [RCV003942576]|Cardiovascular phenotype [RCV002356759]|Long QT syndrome 11 [RCV002253459]|Long QT syndrome [RCV000477279]|not provided [RCV001618711]|not specified [RCV001824793] Chr7:92065387 [GRCh38]
Chr7:91694701 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.5251C>T (p.Arg1751Cys) single nucleotide variant Cardiovascular phenotype [RCV002339191]|Long QT syndrome 11 [RCV002475892]|Long QT syndrome [RCV000456250]|not provided [RCV000786276] Chr7:92045096 [GRCh38]
Chr7:91674410 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.456C>A (p.Asp152Glu) single nucleotide variant Cardiovascular phenotype [RCV002339190]|Long QT syndrome [RCV000457679]|not specified [RCV002469158] Chr7:91992935 [GRCh38]
Chr7:91622249 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.9881G>A (p.Arg3294Gln) single nucleotide variant Cardiovascular phenotype [RCV004022894]|Long QT syndrome [RCV000459803]|not provided [RCV000786277]|not specified [RCV003155193] Chr7:92096840 [GRCh38]
Chr7:91726154 [GRCh37]
Chr7:7q21.2		 benign|likely benign|uncertain significance
NM_005751.5(AKAP9):c.11682G>T (p.Gln3894His) single nucleotide variant Cardiovascular phenotype [RCV002329173]|Hypertrophic cardiomyopathy [RCV000497730] Chr7:92108629 [GRCh38]
Chr7:91737943 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2478A>G (p.Ile826Met) single nucleotide variant Primary dilated cardiomyopathy [RCV000498433] Chr7:92002395 [GRCh38]
Chr7:91631709 [GRCh37]
Chr7:7q21.2		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_005751.5(AKAP9):c.7555T>C (p.Tyr2519His) single nucleotide variant Cardiovascular phenotype [RCV002395223]|not provided [RCV000508523] Chr7:92079688 [GRCh38]
Chr7:91709002 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1288T>A (p.Leu430Ile) single nucleotide variant not specified [RCV000506267] Chr7:92001205 [GRCh38]
Chr7:91630519 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4195A>G (p.Thr1399Ala) single nucleotide variant Cardiovascular phenotype [RCV002329209]|Long QT syndrome [RCV000701930]|not specified [RCV000506404] Chr7:92029941 [GRCh38]
Chr7:91659255 [GRCh37]
Chr7:7q21.2		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_005751.5(AKAP9):c.1289T>A (p.Leu430Ter) single nucleotide variant not specified [RCV000507386] Chr7:92001206 [GRCh38]
Chr7:91630520 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1623G>A (p.Arg541=) single nucleotide variant Cardiovascular phenotype [RCV004619320]|Long QT syndrome [RCV000532081] Chr7:92001540 [GRCh38]
Chr7:91630854 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2284A>G (p.Lys762Glu) single nucleotide variant Long QT syndrome 11 [RCV000578046]|Long QT syndrome [RCV001338792] Chr7:92002201 [GRCh38]
Chr7:91631515 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11300C>T (p.Ser3767Leu) single nucleotide variant AKAP9-related disorder [RCV003942739]|Cardiovascular phenotype [RCV000620706]|Long QT syndrome 11 [RCV002253504]|Long QT syndrome [RCV000541758]|not provided [RCV004707312] Chr7:92102796 [GRCh38]
Chr7:91732110 [GRCh37]
Chr7:7q21.2		 benign|likely benign|uncertain significance
NM_005751.5(AKAP9):c.10591C>G (p.Gln3531Glu) single nucleotide variant Cardiovascular phenotype [RCV002404580]|Long QT syndrome [RCV001203009]|Wolff-Parkinson-White pattern [RCV000656173] Chr7:92097778 [GRCh38]
Chr7:91727092 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8363T>C (p.Ile2788Thr) single nucleotide variant Long QT syndrome [RCV000542123] Chr7:92083372 [GRCh38]
Chr7:91712686 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9446A>G (p.Glu3149Gly) single nucleotide variant Cardiovascular phenotype [RCV000617444]|Long QT syndrome [RCV001855269] Chr7:92093184 [GRCh38]
Chr7:91722498 [GRCh37]
Chr7:7q21.2		 benign|uncertain significance
NM_005751.5(AKAP9):c.5183A>G (p.Asn1728Ser) single nucleotide variant Cardiovascular phenotype [RCV000618469]|Long QT syndrome [RCV003532202] Chr7:92045028 [GRCh38]
Chr7:91674342 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3447G>A (p.Glu1149=) single nucleotide variant Long QT syndrome [RCV000535095] Chr7:92012557 [GRCh38]
Chr7:91641871 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4302A>G (p.Lys1434=) single nucleotide variant Long QT syndrome [RCV000535449] Chr7:92031568 [GRCh38]
Chr7:91660882 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2520T>C (p.Asn840=) single nucleotide variant Cardiovascular phenotype [RCV000619612]|Long QT syndrome [RCV002066932] Chr7:92002437 [GRCh38]
Chr7:91631751 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4143G>A (p.Pro1381=) single nucleotide variant AKAP9-related disorder [RCV003905663]|Cardiovascular phenotype [RCV000619743]|Long QT syndrome 11 [RCV002253541]|Long QT syndrome [RCV000631762]|not provided [RCV001536136] Chr7:92023004 [GRCh38]
Chr7:91652318 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.81G>A (p.Ser27=) single nucleotide variant Cardiovascular phenotype [RCV000619915]|Long QT syndrome 11 [RCV002253537]|Long QT syndrome [RCV000868416] Chr7:91973743 [GRCh38]
Chr7:91603057 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.9C>T (p.Asp3=) single nucleotide variant Cardiovascular phenotype [RCV000620386] Chr7:91941108 [GRCh38]
Chr7:91570422 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10305A>T (p.Arg3435=) single nucleotide variant Cardiovascular phenotype [RCV000620749]|Long QT syndrome [RCV003647791] Chr7:92097264 [GRCh38]
Chr7:91726578 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1936A>G (p.Ile646Val) single nucleotide variant Cardiovascular phenotype [RCV000620916]|Long QT syndrome [RCV001049396] Chr7:92001853 [GRCh38]
Chr7:91631167 [GRCh37]
Chr7:7q21.2		 benign|uncertain significance
NM_005751.5(AKAP9):c.1583G>A (p.Arg528Lys) single nucleotide variant Cardiovascular phenotype [RCV000621262]|Long QT syndrome [RCV002531777] Chr7:92001500 [GRCh38]
Chr7:91630814 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7579G>A (p.Glu2527Lys) single nucleotide variant Long QT syndrome [RCV000540366] Chr7:92079712 [GRCh38]
Chr7:91709026 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9117T>G (p.Ser3039Arg) single nucleotide variant Cardiovascular phenotype [RCV004333280]|Long QT syndrome [RCV003318445] Chr7:92086320 [GRCh38]
Chr7:91715634 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.126G>A (p.Thr42=) single nucleotide variant Cardiovascular phenotype [RCV000621808]|Long QT syndrome [RCV000631834]|not provided [RCV001538617] Chr7:91973788 [GRCh38]
Chr7:91603102 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3246A>G (p.Ser1082=) single nucleotide variant Cardiovascular phenotype [RCV000620609]|Long QT syndrome 11 [RCV001000063]|Long QT syndrome [RCV001517667]|not provided [RCV000755803] Chr7:92003163 [GRCh38]
Chr7:91632477 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.3155A>G (p.Asp1052Gly) single nucleotide variant Long QT syndrome [RCV000631610] Chr7:92003072 [GRCh38]
Chr7:91632386 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4769T>G (p.Met1590Arg) single nucleotide variant Long QT syndrome [RCV000631686] Chr7:92040750 [GRCh38]
Chr7:91670064 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.34G>A (p.Ala12Thr) single nucleotide variant Cardiovascular phenotype [RCV004025410]|Long QT syndrome [RCV000631687] Chr7:91941133 [GRCh38]
Chr7:91570447 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7188G>A (p.Leu2396=) single nucleotide variant Long QT syndrome [RCV000631786] Chr7:92079321 [GRCh38]
Chr7:91708635 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3886A>G (p.Asn1296Asp) single nucleotide variant Cardiovascular phenotype [RCV002360511]|Long QT syndrome [RCV000631809] Chr7:92022286 [GRCh38]
Chr7:91651600 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.931-8T>C single nucleotide variant Long QT syndrome [RCV000631822] Chr7:92000840 [GRCh38]
Chr7:91630154 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4246-6A>T single nucleotide variant Long QT syndrome [RCV001085558]|not provided [RCV000631833]|not specified [RCV001701424] Chr7:92031506 [GRCh38]
Chr7:91660820 [GRCh37]
Chr7:7q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005751.5(AKAP9):c.9561A>G (p.Lys3187=) single nucleotide variant Cardiovascular phenotype [RCV004023769]|Long QT syndrome [RCV000559466] Chr7:92093299 [GRCh38]
Chr7:91722613 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6295C>T (p.Arg2099Ter) single nucleotide variant Long QT syndrome [RCV000631661] Chr7:92066511 [GRCh38]
Chr7:91695825 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3226C>G (p.Pro1076Ala) single nucleotide variant Long QT syndrome [RCV000631728] Chr7:92003143 [GRCh38]
Chr7:91632457 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5476G>A (p.Val1826Met) single nucleotide variant Cardiovascular phenotype [RCV002350185]|Long QT syndrome [RCV000556667] Chr7:92052833 [GRCh38]
Chr7:91682147 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8200A>C (p.Ser2734Arg) single nucleotide variant Long QT syndrome [RCV000631642] Chr7:92083209 [GRCh38]
Chr7:91712523 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5456C>G (p.Thr1819Arg) single nucleotide variant Long QT syndrome [RCV000631654] Chr7:92052813 [GRCh38]
Chr7:91682127 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10220A>C (p.Glu3407Ala) single nucleotide variant Cardiovascular phenotype [RCV002420684]|Long QT syndrome [RCV000631721] Chr7:92097179 [GRCh38]
Chr7:91726493 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.6996A>G (p.Glu2332=) single nucleotide variant Cardiovascular phenotype [RCV002360508]|Long QT syndrome [RCV001078750]|not provided [RCV000755801]|not specified [RCV002307565] Chr7:92079129 [GRCh38]
Chr7:91708443 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7572C>T (p.Asp2524=) single nucleotide variant Cardiovascular phenotype [RCV002388013]|Long QT syndrome [RCV001443974] Chr7:92079705 [GRCh38]
Chr7:91709019 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11201A>T (p.Asp3734Val) single nucleotide variant Cardiovascular phenotype [RCV004025404]|Long QT syndrome [RCV000631603] Chr7:92102697 [GRCh38]
Chr7:91732011 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1809AGAAAA[1] (p.604EK[1]) microsatellite Long QT syndrome [RCV000631647] Chr7:92001726..92001731 [GRCh38]
Chr7:91631040..91631045 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5078_5080del (p.Gly1693del) deletion Cardiovascular phenotype [RCV002343210]|Long QT syndrome 11 [RCV002492957]|Long QT syndrome [RCV000631693]|not specified [RCV001526932] Chr7:92042685..92042687 [GRCh38]
Chr7:91671999..91672001 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10319T>G (p.Met3440Arg) single nucleotide variant Long QT syndrome [RCV000631703] Chr7:92097278 [GRCh38]
Chr7:91726592 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10871G>A (p.Arg3624Gln) single nucleotide variant Cardiovascular phenotype [RCV003302989]|Long QT syndrome 11 [RCV002477383]|Long QT syndrome [RCV000631710] Chr7:92099844 [GRCh38]
Chr7:91729158 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9697C>T (p.Arg3233Cys) single nucleotide variant Cardiovascular phenotype [RCV002385983]|Long QT syndrome 11 [RCV002477384]|Long QT syndrome [RCV000631711]|not provided [RCV003884674] Chr7:92095141 [GRCh38]
Chr7:91724455 [GRCh37]
Chr7:7q21.2		 benign|likely benign|uncertain significance
NM_005751.5(AKAP9):c.11525C>T (p.Ser3842Phe) single nucleotide variant Long QT syndrome 11 [RCV002477385]|Long QT syndrome [RCV000631717]|not provided [RCV000786088] Chr7:92107401 [GRCh38]
Chr7:91736715 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3838-4A>T single nucleotide variant Cardiovascular phenotype [RCV002358767]|Long QT syndrome [RCV000631815] Chr7:92022234 [GRCh38]
Chr7:91651548 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2349A>G (p.Glu783=) single nucleotide variant Cardiovascular phenotype [RCV002448938]|Long QT syndrome [RCV000631858] Chr7:92002266 [GRCh38]
Chr7:91631580 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5866A>G (p.Ser1956Gly) single nucleotide variant Cardiovascular phenotype [RCV000617453] Chr7:92062375 [GRCh38]
Chr7:91691689 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10361G>A (p.Arg3454Gln) single nucleotide variant Cardiovascular phenotype [RCV000617618]|Long QT syndrome 1 [RCV001256724]|Long QT syndrome 11 [RCV002506503]|Long QT syndrome [RCV000805134] Chr7:92097320 [GRCh38]
Chr7:91726634 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11495G>A (p.Arg3832His) single nucleotide variant Cardiovascular phenotype [RCV000617515]|Long QT syndrome [RCV001868110] Chr7:92107371 [GRCh38]
Chr7:91736685 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.1758A>G (p.Glu586=) single nucleotide variant Cardiovascular phenotype [RCV000618207]|Long QT syndrome [RCV002531745] Chr7:92001675 [GRCh38]
Chr7:91630989 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10860C>T (p.Ile3620=) single nucleotide variant Cardiovascular phenotype [RCV000618576] Chr7:92099833 [GRCh38]
Chr7:91729147 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8120G>C (p.Ser2707Thr) single nucleotide variant Cardiovascular phenotype [RCV004295615] Chr7:92082622 [GRCh38]
Chr7:91711936 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9571G>C (p.Ala3191Pro) single nucleotide variant Cardiovascular phenotype [RCV004314064] Chr7:92093309 [GRCh38]
Chr7:91722623 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4046C>G (p.Ser1349Cys) single nucleotide variant Cardiovascular phenotype [RCV004308761] Chr7:92022907 [GRCh38]
Chr7:91652221 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5669C>G (p.Thr1890Arg) single nucleotide variant Cardiovascular phenotype [RCV004321604] Chr7:92061327 [GRCh38]
Chr7:91690641 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5933G>T (p.Arg1978Ile) single nucleotide variant Cardiovascular phenotype [RCV002358764]|Long QT syndrome [RCV000631585] Chr7:92062442 [GRCh38]
Chr7:91691756 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7741C>T (p.Pro2581Ser) single nucleotide variant Cardiovascular phenotype [RCV003380645]|Long QT syndrome [RCV000631688] Chr7:92079874 [GRCh38]
Chr7:91709188 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1534C>G (p.Leu512Val) single nucleotide variant Cardiovascular phenotype [RCV002404744]|Long QT syndrome [RCV000631695] Chr7:92001451 [GRCh38]
Chr7:91630765 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3193A>G (p.Ser1065Gly) single nucleotide variant Cardiovascular phenotype [RCV002325214]|Long QT syndrome [RCV000631771] Chr7:92003110 [GRCh38]
Chr7:91632424 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.5058+9G>C single nucleotide variant Long QT syndrome [RCV000631845] Chr7:92042195 [GRCh38]
Chr7:91671509 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10200G>A (p.Glu3400=) single nucleotide variant Cardiovascular phenotype [RCV002360515]|Long QT syndrome [RCV000631846] Chr7:92097159 [GRCh38]
Chr7:91726473 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6170C>T (p.Ala2057Val) single nucleotide variant Long QT syndrome [RCV000631712] Chr7:92065423 [GRCh38]
Chr7:91694737 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1900G>A (p.Glu634Lys) single nucleotide variant Cardiovascular phenotype [RCV000620320]|Long QT syndrome 11 [RCV002483717]|Long QT syndrome [RCV003647794] Chr7:92001817 [GRCh38]
Chr7:91631131 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5471G>A (p.Arg1824Gln) single nucleotide variant Cardiovascular phenotype [RCV000620565]|Long QT syndrome [RCV002531785] Chr7:92052828 [GRCh38]
Chr7:91682142 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7657G>C (p.Ala2553Pro) single nucleotide variant Long QT syndrome [RCV000540711] Chr7:92079790 [GRCh38]
Chr7:91709104 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4149-4T>C single nucleotide variant Cardiovascular phenotype [RCV000621247]|Long QT syndrome [RCV003647795] Chr7:92029891 [GRCh38]
Chr7:91659205 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.1053A>G (p.Lys351=) single nucleotide variant Cardiovascular phenotype [RCV000621539]|Long QT syndrome 11 [RCV002253534]|Long QT syndrome [RCV000631742]|not provided [RCV001563480]|not specified [RCV001201295] Chr7:92000970 [GRCh38]
Chr7:91630284 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.11707G>A (p.Ala3903Thr) single nucleotide variant Cardiovascular phenotype [RCV000617539]|Long QT syndrome [RCV001307333] Chr7:92110142 [GRCh38]
Chr7:91739456 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.384A>G (p.Gly128=) single nucleotide variant Cardiovascular phenotype [RCV000617610] Chr7:91992190 [GRCh38]
Chr7:91621504 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1347A>G (p.Lys449=) single nucleotide variant Cardiovascular phenotype [RCV000621953] Chr7:92001264 [GRCh38]
Chr7:91630578 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1204G>A (p.Glu402Lys) single nucleotide variant Cardiovascular phenotype [RCV000617314]|Long QT syndrome 11 [RCV001332665]|Long QT syndrome [RCV001238149] Chr7:92001121 [GRCh38]
Chr7:91630435 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.5705G>A (p.Arg1902His) single nucleotide variant Cardiovascular phenotype [RCV000617780]|Long QT syndrome [RCV001297468] Chr7:92061363 [GRCh38]
Chr7:91690677 [GRCh37]
Chr7:7q21.2		 benign|uncertain significance
NM_005751.5(AKAP9):c.5565A>G (p.Glu1855=) single nucleotide variant Cardiovascular phenotype [RCV002343178]|Long QT syndrome 11 [RCV000624951]|Long QT syndrome [RCV001438446]|not provided [RCV001701121]|not specified [RCV003488736] Chr7:92052922 [GRCh38]
Chr7:91682236 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9444G>A (p.Thr3148=) single nucleotide variant Cardiovascular phenotype [RCV000618211]|Long QT syndrome [RCV001493831] Chr7:92093182 [GRCh38]
Chr7:91722496 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4927A>G (p.Ile1643Val) single nucleotide variant Cardiomyopathy [RCV000853015]|Cardiovascular phenotype [RCV000618543] Chr7:92042055 [GRCh38]
Chr7:91671369 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.8613G>C (p.Leu2871Phe) single nucleotide variant Cardiovascular phenotype [RCV000618512]|Long QT syndrome [RCV003647790] Chr7:92083622 [GRCh38]
Chr7:91712936 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5404G>A (p.Asp1802Asn) single nucleotide variant Cardiovascular phenotype [RCV002350183]|Long QT syndrome [RCV000555524] Chr7:92052761 [GRCh38]
Chr7:91682075 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6343G>T (p.Ala2115Ser) single nucleotide variant Cardiovascular phenotype [RCV002367780]|Long QT syndrome [RCV000537657] Chr7:92070042 [GRCh38]
Chr7:91699356 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9867A>G (p.Ser3289=) single nucleotide variant AKAP9-related disorder [RCV003953097]|Cardiovascular phenotype [RCV000619074]|Long QT syndrome [RCV000861514] Chr7:92096826 [GRCh38]
Chr7:91726140 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2768T>C (p.Phe923Ser) single nucleotide variant Cardiovascular phenotype [RCV000618837] Chr7:92002685 [GRCh38]
Chr7:91631999 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3927T>G (p.Ser1309=) single nucleotide variant Cardiovascular phenotype [RCV000619053]|Long QT syndrome [RCV001471850] Chr7:92022327 [GRCh38]
Chr7:91651641 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1508A>G (p.Gln503Arg) single nucleotide variant Cardiovascular phenotype [RCV000619091]|Long QT syndrome 11 [RCV002491314]|Long QT syndrome [RCV000811832] Chr7:92001425 [GRCh38]
Chr7:91630739 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.10687A>G (p.Lys3563Glu) single nucleotide variant Cardiovascular phenotype [RCV000619170]|Long QT syndrome [RCV003767776] Chr7:92098188 [GRCh38]
Chr7:91727502 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2609G>A (p.Cys870Tyr) single nucleotide variant Cardiovascular phenotype [RCV002438303]|Long QT syndrome 11 [RCV003139754]|Long QT syndrome [RCV000533589] Chr7:92002526 [GRCh38]
Chr7:91631840 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.9517T>C (p.Leu3173=) single nucleotide variant Cardiovascular phenotype [RCV000619402]|Long QT syndrome [RCV001470972] Chr7:92093255 [GRCh38]
Chr7:91722569 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5907C>A (p.Ile1969=) single nucleotide variant Long QT syndrome [RCV001445701] Chr7:92062416 [GRCh38]
Chr7:91691730 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1268A>T (p.Glu423Val) single nucleotide variant Long QT syndrome [RCV000538769] Chr7:92001185 [GRCh38]
Chr7:91630499 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11297G>A (p.Arg3766Gln) single nucleotide variant Cardiovascular phenotype [RCV004024588]|Long QT syndrome [RCV001309086]|Wolff-Parkinson-White pattern [RCV000656165] Chr7:92102793 [GRCh38]
Chr7:91732107 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.8494C>G (p.Gln2832Glu) single nucleotide variant Cardiovascular phenotype [RCV003310947] Chr7:92083503 [GRCh38]
Chr7:91712817 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9048T>C (p.His3016=) single nucleotide variant Cardiovascular phenotype [RCV003310957] Chr7:92086251 [GRCh38]
Chr7:91715565 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4912G>T (p.Ala1638Ser) single nucleotide variant Cardiovascular phenotype [RCV003310984] Chr7:92040893 [GRCh38]
Chr7:91670207 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10925C>T (p.Ala3642Val) single nucleotide variant Long QT syndrome [RCV000536002] Chr7:92100884 [GRCh38]
Chr7:91730198 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5783C>T (p.Ala1928Val) single nucleotide variant Cardiovascular phenotype [RCV004286436] Chr7:92062292 [GRCh38]
Chr7:91691606 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.141T>C (p.His47=) single nucleotide variant Cardiovascular phenotype [RCV003310944] Chr7:91973803 [GRCh38]
Chr7:91603117 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.141_143delinsCGG (p.Asp48Gly) indel Cardiovascular phenotype [RCV003310945] Chr7:91973803..91973805 [GRCh38]
Chr7:91603117..91603119 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3381T>C (p.His1127=) single nucleotide variant Cardiovascular phenotype [RCV003310948] Chr7:92012491 [GRCh38]
Chr7:91641805 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.268G>A (p.Gly90Arg) single nucleotide variant Cardiovascular phenotype [RCV003310952] Chr7:91973930 [GRCh38]
Chr7:91603244 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.713T>C (p.Leu238Ser) single nucleotide variant Cardiovascular phenotype [RCV003310954] Chr7:91994757 [GRCh38]
Chr7:91624071 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4064A>C (p.Lys1355Thr) single nucleotide variant Cardiovascular phenotype [RCV003310960] Chr7:92022925 [GRCh38]
Chr7:91652239 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3954T>C (p.Asp1318=) single nucleotide variant Cardiovascular phenotype [RCV003310961] Chr7:92022815 [GRCh38]
Chr7:91652129 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6390C>T (p.Leu2130=) single nucleotide variant Cardiovascular phenotype [RCV003310964] Chr7:92070089 [GRCh38]
Chr7:91699403 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4700A>G (p.Asp1567Gly) single nucleotide variant Cardiovascular phenotype [RCV003310970] Chr7:92040681 [GRCh38]
Chr7:91669995 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5217A>G (p.Val1739=) single nucleotide variant Cardiovascular phenotype [RCV003310972]|Long QT syndrome [RCV003647972] Chr7:92045062 [GRCh38]
Chr7:91674376 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7860T>G (p.Thr2620=) single nucleotide variant Cardiovascular phenotype [RCV003310975] Chr7:92079993 [GRCh38]
Chr7:91709307 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3580G>C (p.Ala1194Pro) single nucleotide variant Cardiovascular phenotype [RCV003310976] Chr7:92014296 [GRCh38]
Chr7:91643610 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11026C>T (p.Leu3676=) single nucleotide variant Cardiovascular phenotype [RCV003310981] Chr7:92100985 [GRCh38]
Chr7:91730299 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2744C>T (p.Ser915Phe) single nucleotide variant Cardiovascular phenotype [RCV003310988] Chr7:92002661 [GRCh38]
Chr7:91631975 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6750A>C (p.Glu2250Asp) single nucleotide variant Cardiovascular phenotype [RCV003310943] Chr7:92076992 [GRCh38]
Chr7:91706306 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3427C>G (p.Leu1143Val) single nucleotide variant Cardiovascular phenotype [RCV003310955]|Long QT syndrome [RCV003647971] Chr7:92012537 [GRCh38]
Chr7:91641851 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7427C>T (p.Ser2476Phe) single nucleotide variant Cardiovascular phenotype [RCV003310962] Chr7:92079560 [GRCh38]
Chr7:91708874 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.947T>C (p.Val316Ala) single nucleotide variant Cardiovascular phenotype [RCV003310974] Chr7:92000864 [GRCh38]
Chr7:91630178 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.36C>T (p.Ala12=) single nucleotide variant Cardiovascular phenotype [RCV000619575] Chr7:91941135 [GRCh38]
Chr7:91570449 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1224T>C (p.Asn408=) single nucleotide variant Cardiovascular phenotype [RCV000619621] Chr7:92001141 [GRCh38]
Chr7:91630455 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2578A>G (p.Asn860Asp) single nucleotide variant Cardiovascular phenotype [RCV002457996]|Long QT syndrome [RCV000631547] Chr7:92002495 [GRCh38]
Chr7:91631809 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3038A>T (p.Asp1013Val) single nucleotide variant Long QT syndrome [RCV000631608] Chr7:92002955 [GRCh38]
Chr7:91632269 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2113T>G (p.Leu705Val) single nucleotide variant AKAP9-related disorder [RCV003420092]|Cardiovascular phenotype [RCV002420683]|Long QT syndrome 11 [RCV002499040]|Long QT syndrome [RCV000631639] Chr7:92002030 [GRCh38]
Chr7:91631344 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6302A>G (p.Gln2101Arg) single nucleotide variant Cardiovascular phenotype [RCV002360507]|Long QT syndrome [RCV000631665] Chr7:92066518 [GRCh38]
Chr7:91695832 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2779A>G (p.Thr927Ala) single nucleotide variant Long QT syndrome [RCV000631679] Chr7:92002696 [GRCh38]
Chr7:91632010 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4351A>G (p.Met1451Val) single nucleotide variant Cardiovascular phenotype [RCV002331111]|Long QT syndrome [RCV000631699]|not provided [RCV002263849] Chr7:92038431 [GRCh38]
Chr7:91667745 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.11189A>G (p.Gln3730Arg) single nucleotide variant Cardiovascular phenotype [RCV002438655]|Long QT syndrome [RCV000631718]|not provided [RCV002261138] Chr7:92102685 [GRCh38]
Chr7:91731999 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4266G>A (p.Val1422=) single nucleotide variant Long QT syndrome [RCV000631785] Chr7:92031532 [GRCh38]
Chr7:91660846 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3838-10T>C single nucleotide variant Long QT syndrome [RCV000631816] Chr7:92022228 [GRCh38]
Chr7:91651542 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8020-5T>C single nucleotide variant Cardiovascular phenotype [RCV000618060]|Long QT syndrome [RCV000631874] Chr7:92082517 [GRCh38]
Chr7:91711831 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.9689A>G (p.Lys3230Arg) single nucleotide variant Cardiovascular phenotype [RCV002385984]|Long QT syndrome 11 [RCV003139958]|Long QT syndrome [RCV000631842] Chr7:92095133 [GRCh38]
Chr7:91724447 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NC_000007.13:g.(?_91570394)_(92085896_?)dup duplication Long QT syndrome [RCV000631877] Chr7:91941080..92456582 [GRCh38]
Chr7:91570394..92085896 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7212C>T (p.Thr2404=) single nucleotide variant Cardiovascular phenotype [RCV000618855]|Long QT syndrome 11 [RCV002506491]|Long QT syndrome [RCV002066919] Chr7:92079345 [GRCh38]
Chr7:91708659 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11195G>A (p.Cys3732Tyr) single nucleotide variant Cardiovascular phenotype [RCV000618862]|Long QT syndrome 11 [RCV002483714] Chr7:92102691 [GRCh38]
Chr7:91732005 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4082A>G (p.Tyr1361Cys) single nucleotide variant Cardiovascular phenotype [RCV000620234] Chr7:92022943 [GRCh38]
Chr7:91652257 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3936C>A (p.Thr1312=) single nucleotide variant Cardiovascular phenotype [RCV000620410] Chr7:92022336 [GRCh38]
Chr7:91651650 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2625A>G (p.Lys875=) single nucleotide variant Cardiovascular phenotype [RCV000620471]|Long QT syndrome [RCV001479952] Chr7:92002542 [GRCh38]
Chr7:91631856 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8495A>G (p.Gln2832Arg) single nucleotide variant Cardiovascular phenotype [RCV000619107] Chr7:92083504 [GRCh38]
Chr7:91712818 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.492G>A (p.Leu164=) single nucleotide variant Cardiovascular phenotype [RCV000619153]|Long QT syndrome 11 [RCV002253535]|Long QT syndrome [RCV001491806]|not provided [RCV000867418] Chr7:91992971 [GRCh38]
Chr7:91622285 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.464C>A (p.Thr155Asn) single nucleotide variant Cardiovascular phenotype [RCV000620708]|Long QT syndrome 11 [RCV002506506]|Long QT syndrome [RCV001868113] Chr7:91992943 [GRCh38]
Chr7:91622257 [GRCh37]
Chr7:7q21.2		 benign|uncertain significance
NM_005751.5(AKAP9):c.7350T>C (p.Ser2450=) single nucleotide variant Cardiovascular phenotype [RCV000620955] Chr7:92079483 [GRCh38]
Chr7:91708797 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6669T>C (p.Asn2223=) single nucleotide variant Cardiovascular phenotype [RCV003162802]|Long QT syndrome [RCV000631847] Chr7:92076911 [GRCh38]
Chr7:91706225 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3201A>G (p.Gln1067=) single nucleotide variant Cardiovascular phenotype [RCV000621926] Chr7:92003118 [GRCh38]
Chr7:91632432 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3055T>G (p.Leu1019Val) single nucleotide variant Cardiovascular phenotype [RCV002448912]|Long QT syndrome [RCV000623069] Chr7:92002972 [GRCh38]
Chr7:91632286 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5698C>T (p.Arg1900Ter) single nucleotide variant Long QT syndrome [RCV000624819] Chr7:92061356 [GRCh38]
Chr7:91690670 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1575T>C (p.Ala525=) single nucleotide variant Cardiovascular phenotype [RCV000617528]|Long QT syndrome 11 [RCV002253536]|Long QT syndrome [RCV000867766] Chr7:92001492 [GRCh38]
Chr7:91630806 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.9335A>G (p.Gln3112Arg) single nucleotide variant Long QT syndrome [RCV000700676] Chr7:92089506 [GRCh38]
Chr7:91718820 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5668A>T (p.Thr1890Ser) single nucleotide variant Long QT syndrome [RCV000701296] Chr7:92061326 [GRCh38]
Chr7:91690640 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4840C>T (p.Arg1614Trp) single nucleotide variant Cardiovascular phenotype [RCV002334221]|Long QT syndrome 11 [RCV002499133]|Long QT syndrome [RCV001055422]|not provided [RCV000658388] Chr7:92040821 [GRCh38]
Chr7:91670135 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.6004A>G (p.Met2002Val) single nucleotide variant Long QT syndrome 11 [RCV002507186]|Long QT syndrome [RCV000685378] Chr7:92065257 [GRCh38]
Chr7:91694571 [GRCh37]
Chr7:7q21.2		 uncertain significance
Single allele deletion not provided [RCV000677988] Chr7:73591993..93683437 [GRCh37]
Chr7:7q11.23-21.3		 uncertain significance
NM_005751.5(AKAP9):c.5825C>A (p.Thr1942Asn) single nucleotide variant Cardiovascular phenotype [RCV002352185]|Long QT syndrome [RCV000700420] Chr7:92062334 [GRCh38]
Chr7:91691648 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10865G>A (p.Trp3622Ter) single nucleotide variant Cardiovascular phenotype [RCV003163081]|Long QT syndrome [RCV000680439] Chr7:92099838 [GRCh38]
Chr7:91729152 [GRCh37]
Chr7:7q21.2		 likely pathogenic|uncertain significance
NM_005751.5(AKAP9):c.7096A>G (p.Ile2366Val) single nucleotide variant Cardiovascular phenotype [RCV002360728]|Long QT syndrome 11 [RCV002485616]|Long QT syndrome [RCV000688384] Chr7:92079229 [GRCh38]
Chr7:91708543 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.394A>G (p.Asn132Asp) single nucleotide variant Cardiovascular phenotype [RCV002369930]|Long QT syndrome [RCV000701521] Chr7:91992200 [GRCh38]
Chr7:91621514 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.509A>T (p.Glu170Val) single nucleotide variant Cardiovascular phenotype [RCV004025130]|Long QT syndrome 11 [RCV003224376]|Long QT syndrome [RCV000692770] Chr7:91992988 [GRCh38]
Chr7:91622302 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.5363C>G (p.Thr1788Arg) single nucleotide variant Long QT syndrome [RCV000705117] Chr7:92045208 [GRCh38]
Chr7:91674522 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4553G>A (p.Ser1518Asn) single nucleotide variant Long QT syndrome [RCV000691229] Chr7:92038633 [GRCh38]
Chr7:91667947 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4102T>A (p.Leu1368Ile) single nucleotide variant Long QT syndrome [RCV000689088] Chr7:92022963 [GRCh38]
Chr7:91652277 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11452G>T (p.Gly3818Cys) single nucleotide variant Long QT syndrome [RCV000689170] Chr7:92107328 [GRCh38]
Chr7:91736642 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4594A>G (p.Asn1532Asp) single nucleotide variant Cardiovascular phenotype [RCV002334300]|Long QT syndrome [RCV000692112] Chr7:92038674 [GRCh38]
Chr7:91667988 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4240A>G (p.Ile1414Val) single nucleotide variant Cardiovascular phenotype [RCV004026521]|Long QT syndrome [RCV000700650] Chr7:92029986 [GRCh38]
Chr7:91659300 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1159G>A (p.Glu387Lys) single nucleotide variant Long QT syndrome [RCV000692379] Chr7:92001076 [GRCh38]
Chr7:91630390 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2239G>A (p.Glu747Lys) single nucleotide variant Cardiovascular phenotype [RCV002422608]|Long QT syndrome [RCV000706422] Chr7:92002156 [GRCh38]
Chr7:91631470 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1264A>C (p.Met422Leu) single nucleotide variant Long QT syndrome [RCV000689789] Chr7:92001181 [GRCh38]
Chr7:91630495 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9136C>T (p.Arg3046Trp) single nucleotide variant Long QT syndrome [RCV000687627] Chr7:92086339 [GRCh38]
Chr7:91715653 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9244C>T (p.Leu3082Phe) single nucleotide variant Cardiovascular phenotype [RCV002369884]|Long QT syndrome [RCV000695253]|not provided [RCV000786279] Chr7:92089415 [GRCh38]
Chr7:91718729 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8812del (p.Ser2938fs) deletion Long QT syndrome [RCV000704551] Chr7:92084919 [GRCh38]
Chr7:91714233 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11229G>C (p.Met3743Ile) single nucleotide variant Cardiovascular phenotype [RCV002440476]|Long QT syndrome 11 [RCV002485685]|Long QT syndrome [RCV000695351] Chr7:92102725 [GRCh38]
Chr7:91732039 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7886T>C (p.Val2629Ala) single nucleotide variant Cardiovascular phenotype [RCV002406598]|Long QT syndrome 11 [RCV002493203]|Long QT syndrome [RCV000695679] Chr7:92080019 [GRCh38]
Chr7:91709333 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.10691T>C (p.Leu3564Ser) single nucleotide variant Cardiovascular phenotype [RCV002406588]|Long QT syndrome [RCV000694156] Chr7:92098192 [GRCh38]
Chr7:91727506 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3643_3648del (p.Thr1215_Pro1216del) deletion Long QT syndrome [RCV000694171] Chr7:92016158..92016163 [GRCh38]
Chr7:91645472..91645477 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4041A>G (p.Ile1347Met) single nucleotide variant Long QT syndrome [RCV000700013] Chr7:92022902 [GRCh38]
Chr7:91652216 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5258T>C (p.Val1753Ala) single nucleotide variant Cardiovascular phenotype [RCV004026389]|Long QT syndrome [RCV000696899] Chr7:92045103 [GRCh38]
Chr7:91674417 [GRCh37]
Chr7:7q21.2		 uncertain significance
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
NM_005751.5(AKAP9):c.9359-294C>T single nucleotide variant not provided [RCV001545995] Chr7:92092803 [GRCh38]
Chr7:91722117 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5978-46A>T single nucleotide variant not provided [RCV001548201] Chr7:92065185 [GRCh38]
Chr7:91694499 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.177A>G (p.Gln59=) single nucleotide variant Cardiovascular phenotype [RCV002402452]|Long QT syndrome [RCV001065016] Chr7:91973839 [GRCh38]
Chr7:91603153 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.406-207_406-206insC insertion not provided [RCV001643621] Chr7:91992678..91992679 [GRCh38]
Chr7:91621992..91621993 [GRCh37]
Chr7:7q21.2		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q21.2(chr7:91572749-91691565)x3 copy number gain not provided [RCV000746886] Chr7:91572749..91691565 [GRCh37]
Chr7:7q21.2		 benign
GRCh37/hg19 7q21.2(chr7:91572749-91700267)x3 copy number gain not provided [RCV000746887] Chr7:91572749..91700267 [GRCh37]
Chr7:7q21.2		 benign
GRCh37/hg19 7q21.2(chr7:91575417-91691565)x3 copy number gain not provided [RCV000746888] Chr7:91575417..91691565 [GRCh37]
Chr7:7q21.2		 benign
GRCh37/hg19 7q21.2(chr7:91575417-91694743)x3 copy number gain not provided [RCV000746889] Chr7:91575417..91694743 [GRCh37]
Chr7:7q21.2		 benign
GRCh37/hg19 7q21.2(chr7:91579073-91742348)x3 copy number gain not provided [RCV000746890] Chr7:91579073..91742348 [GRCh37]
Chr7:7q21.2		 benign
GRCh37/hg19 7q21.2(chr7:91707197-91719608)x0 copy number loss not provided [RCV000746891] Chr7:91707197..91719608 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.7023G>A (p.Val2341=) single nucleotide variant not provided [RCV001724401]|not specified [RCV001699981] Chr7:92079156 [GRCh38]
Chr7:91708470 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.930+177G>A single nucleotide variant not provided [RCV001541555] Chr7:91995977 [GRCh38]
Chr7:91625291 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5680A>G (p.Lys1894Glu) single nucleotide variant Cardiovascular phenotype [RCV002343794]|Long QT syndrome 11 [RCV003224576]|Long QT syndrome [RCV002539691]|not provided [RCV001699647] Chr7:92061338 [GRCh38]
Chr7:91690652 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.8647-74C>G single nucleotide variant not provided [RCV001680299] Chr7:92084566 [GRCh38]
Chr7:91713880 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.4137G>A (p.Thr1379=) single nucleotide variant Long QT syndrome [RCV001470518] Chr7:92022998 [GRCh38]
Chr7:91652312 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.576+34C>T single nucleotide variant not provided [RCV001544804] Chr7:91993089 [GRCh38]
Chr7:91622403 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6808G>A (p.Ala2270Thr) single nucleotide variant Cardiomyopathy [RCV000853019]|Cardiovascular phenotype [RCV002363202]|Long QT syndrome [RCV001869301] Chr7:92077738 [GRCh38]
Chr7:91707052 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.2610C>T (p.Cys870=) single nucleotide variant not provided [RCV000869797] Chr7:92002527 [GRCh38]
Chr7:91631841 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6330+19T>C single nucleotide variant Long QT syndrome 11 [RCV002253875]|Long QT syndrome [RCV002072253]|not provided [RCV001574915]|not specified [RCV001797846] Chr7:92066565 [GRCh38]
Chr7:91695879 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.11416+30T>A single nucleotide variant not provided [RCV001662959] Chr7:92105793 [GRCh38]
Chr7:91735107 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.11098-13T>G single nucleotide variant Long QT syndrome 11 [RCV002253883]|Long QT syndrome [RCV002070442]|not provided [RCV001716253]|not specified [RCV001582360] Chr7:92102581 [GRCh38]
Chr7:91731895 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.406-207A>C single nucleotide variant not provided [RCV001576028] Chr7:91992678 [GRCh38]
Chr7:91621992 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5765-7A>G single nucleotide variant Long QT syndrome [RCV002621030] Chr7:92062267 [GRCh38]
Chr7:91691581 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.11098-340T>G single nucleotide variant not provided [RCV001576392] Chr7:92102254 [GRCh38]
Chr7:91731568 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7515G>A (p.Glu2505=) single nucleotide variant Cardiovascular phenotype [RCV002390769]|Long QT syndrome [RCV001433989] Chr7:92079648 [GRCh38]
Chr7:91708962 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7068T>C (p.Ile2356=) single nucleotide variant Long QT syndrome [RCV001488968] Chr7:92079201 [GRCh38]
Chr7:91708515 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9124C>T (p.Leu3042=) single nucleotide variant Long QT syndrome 11 [RCV002253632]|Long QT syndrome [RCV001401840]|not provided [RCV000867539] Chr7:92086327 [GRCh38]
Chr7:91715641 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.1926A>G (p.Glu642=) single nucleotide variant not provided [RCV000869222] Chr7:92001843 [GRCh38]
Chr7:91631157 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8205A>G (p.Gln2735=) single nucleotide variant Cardiovascular phenotype [RCV003307623]|Long QT syndrome [RCV002064609] Chr7:92083214 [GRCh38]
Chr7:91712528 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9537C>G (p.Leu3179=) single nucleotide variant Cardiovascular phenotype [RCV002372457]|Long QT syndrome [RCV000870091] Chr7:92093275 [GRCh38]
Chr7:91722589 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4401A>G (p.Gly1467=) single nucleotide variant Cardiovascular phenotype [RCV004029462]|Long QT syndrome [RCV002065964] Chr7:92038481 [GRCh38]
Chr7:91667795 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.352-4A>G single nucleotide variant not provided [RCV000923269] Chr7:91992154 [GRCh38]
Chr7:91621468 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6672A>G (p.Glu2224=) single nucleotide variant Long QT syndrome [RCV001428295] Chr7:92076914 [GRCh38]
Chr7:91706228 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10912T>C (p.Leu3638=) single nucleotide variant Cardiovascular phenotype [RCV003169267]|not provided [RCV000905241] Chr7:92100871 [GRCh38]
Chr7:91730185 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7140A>C (p.Glu2380Asp) single nucleotide variant Long QT syndrome [RCV002536251] Chr7:92079273 [GRCh38]
Chr7:91708587 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10032A>G (p.Leu3344=) single nucleotide variant not provided [RCV000902052] Chr7:92096991 [GRCh38]
Chr7:91726305 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1365A>G (p.Gln455=) single nucleotide variant Long QT syndrome [RCV001449193] Chr7:92001282 [GRCh38]
Chr7:91630596 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9730-7G>A single nucleotide variant Long QT syndrome [RCV000867283] Chr7:92096682 [GRCh38]
Chr7:91725996 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7997C>T (p.Pro2666Leu) single nucleotide variant Cardiovascular phenotype [RCV003307819]|Long QT syndrome [RCV001040494] Chr7:92080130 [GRCh38]
Chr7:91709444 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.4136C>T (p.Thr1379Met) single nucleotide variant Cardiovascular phenotype [RCV003307820]|Long QT syndrome 11 [RCV001332666]|Long QT syndrome [RCV001040563] Chr7:92022997 [GRCh38]
Chr7:91652311 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5356G>A (p.Glu1786Lys) single nucleotide variant Cardiovascular phenotype [RCV002348445]|Long QT syndrome 11 [RCV002497444]|Long QT syndrome [RCV001061384] Chr7:92045201 [GRCh38]
Chr7:91674515 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4355G>A (p.Ser1452Asn) single nucleotide variant Long QT syndrome [RCV001037086] Chr7:92038435 [GRCh38]
Chr7:91667749 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11317A>G (p.Ile3773Val) single nucleotide variant Cardiovascular phenotype [RCV002320286]|Long QT syndrome [RCV001051319] Chr7:92102813 [GRCh38]
Chr7:91732127 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.2930A>G (p.Asn977Ser) single nucleotide variant Cardiovascular phenotype [RCV002436551]|Long QT syndrome [RCV001041155]|not specified [RCV002469329] Chr7:92002847 [GRCh38]
Chr7:91632161 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.9750G>C (p.Glu3250Asp) single nucleotide variant Cardiovascular phenotype [RCV002379502]|Long QT syndrome [RCV001041468] Chr7:92096709 [GRCh38]
Chr7:91726023 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3631G>T (p.Gly1211Cys) single nucleotide variant Cardiovascular phenotype [RCV002451262]|Long QT syndrome [RCV001061842] Chr7:92016147 [GRCh38]
Chr7:91645461 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.419G>A (p.Gly140Asp) single nucleotide variant Cardiovascular phenotype [RCV003160223]|Long QT syndrome [RCV001037500] Chr7:91992898 [GRCh38]
Chr7:91622212 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2951A>G (p.Lys984Arg) single nucleotide variant Cardiovascular phenotype [RCV002436684]|Long QT syndrome [RCV001069980] Chr7:92002868 [GRCh38]
Chr7:91632182 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7980A>C (p.Lys2660Asn) single nucleotide variant Cardiovascular phenotype [RCV002409415]|Long QT syndrome [RCV001048328]|not specified [RCV003490029] Chr7:92080113 [GRCh38]
Chr7:91709427 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.2406A>G (p.Arg802=) single nucleotide variant Cardiovascular phenotype [RCV003164130]|Long QT syndrome [RCV001907625] Chr7:92002323 [GRCh38]
Chr7:91631637 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.4826G>A (p.Arg1609Lys) single nucleotide variant Cardiovascular phenotype [RCV002336731]|Long QT syndrome [RCV001088793]|not provided [RCV000826961]|not specified [RCV001256719] Chr7:92040807 [GRCh38]
Chr7:91670121 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.10435A>G (p.Asn3479Asp) single nucleotide variant Cardiovascular phenotype [RCV003166102]|Long QT syndrome [RCV000793329] Chr7:92097622 [GRCh38]
Chr7:91726936 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.4(AKAP9):c.7051C>T (p.Gln2351Ter) single nucleotide variant Long QT syndrome [RCV000778844] Chr7:92079184 [GRCh38]
Chr7:91708498 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.4(AKAP9):c.4682_4685del (p.Val1561fs) deletion Long QT syndrome [RCV000778842] Chr7:92038759..92038762 [GRCh38]
Chr7:91668073..91668076 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5977+8T>C single nucleotide variant Long QT syndrome [RCV001409008] Chr7:92062494 [GRCh38]
Chr7:91691808 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11376T>G (p.Val3792=) single nucleotide variant Cardiovascular phenotype [RCV002453960]|Long QT syndrome [RCV000866038] Chr7:92105723 [GRCh38]
Chr7:91735037 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7356C>T (p.Asn2452=) single nucleotide variant Cardiovascular phenotype [RCV002381957]|Long QT syndrome [RCV003532295] Chr7:92079489 [GRCh38]
Chr7:91708803 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11364C>T (p.Val3788=) single nucleotide variant AKAP9-related disorder [RCV003892780]|Cardiovascular phenotype [RCV002442793]|Long QT syndrome [RCV001464789] Chr7:92105711 [GRCh38]
Chr7:91735025 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.48+10C>T single nucleotide variant Long QT syndrome [RCV001395401] Chr7:91941157 [GRCh38]
Chr7:91570471 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1764A>G (p.Lys588=) single nucleotide variant not provided [RCV000938873] Chr7:92001681 [GRCh38]
Chr7:91630995 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.717G>A (p.Gln239=) single nucleotide variant Cardiovascular phenotype [RCV002372418]|Long QT syndrome 11 [RCV002253628]|Long QT syndrome [RCV000865208]|not specified [RCV001290605] Chr7:91994761 [GRCh38]
Chr7:91624075 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.4686A>G (p.Arg1562=) single nucleotide variant not provided [RCV000944404] Chr7:92038766 [GRCh38]
Chr7:91668080 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6439G>C (p.Glu2147Gln) single nucleotide variant Long QT syndrome 11 [RCV000790452]|Long QT syndrome [RCV001338991] Chr7:92070138 [GRCh38]
Chr7:91699452 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.143A>G (p.Asp48Gly) single nucleotide variant Cardiovascular phenotype [RCV003310946] Chr7:91973805 [GRCh38]
Chr7:91603119 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10222C>T (p.Leu3408Phe) single nucleotide variant Cardiovascular phenotype [RCV003310950] Chr7:92097181 [GRCh38]
Chr7:91726495 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6485T>C (p.Val2162Ala) single nucleotide variant Cardiovascular phenotype [RCV003310959] Chr7:92070184 [GRCh38]
Chr7:91699498 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1387A>G (p.Met463Val) single nucleotide variant Cardiovascular phenotype [RCV003310963] Chr7:92001304 [GRCh38]
Chr7:91630618 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9553C>T (p.His3185Tyr) single nucleotide variant Cardiovascular phenotype [RCV003310969] Chr7:92093291 [GRCh38]
Chr7:91722605 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10344A>G (p.Leu3448=) single nucleotide variant Cardiovascular phenotype [RCV003310971] Chr7:92097303 [GRCh38]
Chr7:91726617 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9308G>T (p.Gly3103Val) single nucleotide variant Cardiovascular phenotype [RCV003310977] Chr7:92089479 [GRCh38]
Chr7:91718793 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.343A>G (p.Ser115Gly) single nucleotide variant Cardiovascular phenotype [RCV003310978] Chr7:91980325 [GRCh38]
Chr7:91609639 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2788A>G (p.Met930Val) single nucleotide variant Cardiovascular phenotype [RCV003310982] Chr7:92002705 [GRCh38]
Chr7:91632019 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4953G>T (p.Glu1651Asp) single nucleotide variant Cardiovascular phenotype [RCV003310986] Chr7:92042081 [GRCh38]
Chr7:91671395 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5627_5630del (p.Thr1876fs) microsatellite Long QT syndrome [RCV000778843] Chr7:92061280..92061283 [GRCh38]
Chr7:91690594..91690597 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8020-45A>G single nucleotide variant Long QT syndrome 11 [RCV002253612]|not provided [RCV000831100] Chr7:92082477 [GRCh38]
Chr7:91711791 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.5737C>G (p.Leu1913Val) single nucleotide variant Cardiovascular phenotype [RCV003166175]|Long QT syndrome [RCV000799263] Chr7:92061395 [GRCh38]
Chr7:91690709 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.9214-67T>A single nucleotide variant not provided [RCV000833968] Chr7:92089318 [GRCh38]
Chr7:91718632 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10607+109T>C single nucleotide variant not provided [RCV000833969] Chr7:92097903 [GRCh38]
Chr7:91727217 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3557T>G (p.Leu1186Arg) single nucleotide variant Long QT syndrome [RCV000800996] Chr7:92014273 [GRCh38]
Chr7:91643587 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5369-244dup duplication not provided [RCV000837555] Chr7:92052475..92052476 [GRCh38]
Chr7:91681789..91681790 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.4994A>T (p.Gln1665Leu) single nucleotide variant Cardiovascular phenotype [RCV003362944]|Long QT syndrome [RCV000796884] Chr7:92042122 [GRCh38]
Chr7:91671436 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.7309C>T (p.Arg2437Cys) single nucleotide variant Cardiovascular phenotype [RCV002381855]|Long QT syndrome [RCV000819276] Chr7:92079442 [GRCh38]
Chr7:91708756 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4625A>G (p.Lys1542Arg) single nucleotide variant Cardiovascular phenotype [RCV002336684]|Long QT syndrome [RCV000814309] Chr7:92038705 [GRCh38]
Chr7:91668019 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.2324C>T (p.Ala775Val) single nucleotide variant Cardiovascular phenotype [RCV002442701]|Long QT syndrome [RCV000807535] Chr7:92002241 [GRCh38]
Chr7:91631555 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4394C>A (p.Ser1465Tyr) single nucleotide variant Cardiovascular phenotype [RCV004028266]|Long QT syndrome 11 [RCV002507399]|Long QT syndrome [RCV000806930] Chr7:92038474 [GRCh38]
Chr7:91667788 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8957C>T (p.Ala2986Val) single nucleotide variant Cardiovascular phenotype [RCV002442673]|Long QT syndrome [RCV000803159] Chr7:92085619 [GRCh38]
Chr7:91714933 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4962G>C (p.Arg1654Ser) single nucleotide variant Cardiovascular phenotype [RCV002336634]|Long QT syndrome [RCV000804958] Chr7:92042090 [GRCh38]
Chr7:91671404 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8200A>T (p.Ser2734Cys) single nucleotide variant Long QT syndrome [RCV000824028] Chr7:92083209 [GRCh38]
Chr7:91712523 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3613-291G>C single nucleotide variant not provided [RCV000842884] Chr7:92015838 [GRCh38]
Chr7:91645152 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.306+63T>G single nucleotide variant not provided [RCV000834746] Chr7:91974031 [GRCh38]
Chr7:91603345 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3319-214A>C single nucleotide variant not provided [RCV000834747] Chr7:92012215 [GRCh38]
Chr7:91641529 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8019+43A>G single nucleotide variant not provided [RCV000834748] Chr7:92080195 [GRCh38]
Chr7:91709509 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8647-80G>A single nucleotide variant not provided [RCV000834749] Chr7:92084560 [GRCh38]
Chr7:91713874 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9024+133C>T single nucleotide variant not provided [RCV000834750] Chr7:92085819 [GRCh38]
Chr7:91715133 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.4(AKAP9):c.-285C>T single nucleotide variant not provided [RCV000843324] Chr7:91940815 [GRCh38]
Chr7:91570129 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.6613-10_6614del deletion not provided [RCV000998833] Chr7:92076844..92076855 [GRCh38]
Chr7:91706158..91706169 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11297G>T (p.Arg3766Leu) single nucleotide variant Long QT syndrome [RCV000808078] Chr7:92102793 [GRCh38]
Chr7:91732107 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5035C>T (p.Arg1679Cys) single nucleotide variant Cardiovascular phenotype [RCV002334465]|Long QT syndrome 11 [RCV000853574]|Long QT syndrome [RCV000791846]|not provided [RCV001701319] Chr7:92042163 [GRCh38]
Chr7:91671477 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.4149-261A>G single nucleotide variant not provided [RCV000829018] Chr7:92029634 [GRCh38]
Chr7:91658948 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9943A>G (p.Thr3315Ala) single nucleotide variant Cardiovascular phenotype [RCV003307541]|Long QT syndrome [RCV000818267]|not provided [RCV003483741] Chr7:92096902 [GRCh38]
Chr7:91726216 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance|not provided
NM_005751.5(AKAP9):c.49-21G>A single nucleotide variant not provided [RCV000834937] Chr7:91973690 [GRCh38]
Chr7:91603004 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.11417-301C>G single nucleotide variant not provided [RCV000834938] Chr7:92106992 [GRCh38]
Chr7:91736306 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.4726G>A (p.Ala1576Thr) single nucleotide variant Long QT syndrome [RCV000803848] Chr7:92040707 [GRCh38]
Chr7:91670021 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6565G>A (p.Val2189Ile) single nucleotide variant Long QT syndrome [RCV000808438] Chr7:92070962 [GRCh38]
Chr7:91700276 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9013A>G (p.Arg3005Gly) single nucleotide variant Long QT syndrome [RCV000795294] Chr7:92085675 [GRCh38]
Chr7:91714989 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5601+24T>C single nucleotide variant not provided [RCV000835206] Chr7:92052982 [GRCh38]
Chr7:91682296 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11112A>G (p.Lys3704=) single nucleotide variant Long QT syndrome [RCV000820344] Chr7:92102608 [GRCh38]
Chr7:91731922 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5080G>A (p.Glu1694Lys) single nucleotide variant Cardiovascular phenotype [RCV002336706]|Long QT syndrome [RCV000820379] Chr7:92042689 [GRCh38]
Chr7:91672003 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3172A>G (p.Asn1058Asp) single nucleotide variant Long QT syndrome [RCV000804011] Chr7:92003089 [GRCh38]
Chr7:91632403 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5977+146G>T single nucleotide variant not provided [RCV000831085] Chr7:92062632 [GRCh38]
Chr7:91691946 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.11546+58T>A single nucleotide variant Long QT syndrome 11 [RCV002253614]|not provided [RCV000831102] Chr7:92107480 [GRCh38]
Chr7:91736794 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.11546+138A>G single nucleotide variant not provided [RCV000831103] Chr7:92107560 [GRCh38]
Chr7:91736874 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.3752-128A>G single nucleotide variant not provided [RCV000833642] Chr7:92016889 [GRCh38]
Chr7:91646203 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.48+154C>A single nucleotide variant not provided [RCV000831405] Chr7:91941301 [GRCh38]
Chr7:91570615 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.5163-92A>G single nucleotide variant not provided [RCV000833800] Chr7:92044916 [GRCh38]
Chr7:91674230 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4081T>A (p.Tyr1361Asn) single nucleotide variant Long QT syndrome [RCV000805955] Chr7:92022942 [GRCh38]
Chr7:91652256 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4304A>G (p.Gln1435Arg) single nucleotide variant Long QT syndrome [RCV000813395] Chr7:92031570 [GRCh38]
Chr7:91660884 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6612+319AT[2] microsatellite not provided [RCV000828506] Chr7:92071328..92071329 [GRCh38]
Chr7:91700642..91700643 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.3952+107C>T single nucleotide variant not provided [RCV000833802] Chr7:92022459 [GRCh38]
Chr7:91651773 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9729+266G>A single nucleotide variant not provided [RCV000830309] Chr7:92095439 [GRCh38]
Chr7:91724753 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.931-178T>G single nucleotide variant not provided [RCV000831074] Chr7:92000670 [GRCh38]
Chr7:91629984 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.931-161G>C single nucleotide variant not provided [RCV000831075] Chr7:92000687 [GRCh38]
Chr7:91630001 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.3752-133C>T single nucleotide variant not provided [RCV000831078] Chr7:92016884 [GRCh38]
Chr7:91646198 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.11686G>T (p.Gly3896Cys) single nucleotide variant Long QT syndrome [RCV000812902] Chr7:92108633 [GRCh38]
Chr7:91737947 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6946-174T>C single nucleotide variant not provided [RCV000831086] Chr7:92078905 [GRCh38]
Chr7:91708219 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.3350G>A (p.Arg1117His) single nucleotide variant AKAP9-related disorder [RCV003411779]|Cardiovascular phenotype [RCV002325571]|Long QT syndrome [RCV000806288]|not specified [RCV001328419] Chr7:92012460 [GRCh38]
Chr7:91641774 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.872A>T (p.Lys291Ile) single nucleotide variant Long QT syndrome [RCV000799890] Chr7:91995742 [GRCh38]
Chr7:91625056 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4339-156C>T single nucleotide variant not provided [RCV000834624] Chr7:92038263 [GRCh38]
Chr7:91667577 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9268T>A (p.Leu3090Met) single nucleotide variant Long QT syndrome [RCV000796797] Chr7:92089439 [GRCh38]
Chr7:91718753 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9730-309G>C single nucleotide variant not provided [RCV000828507] Chr7:92096380 [GRCh38]
Chr7:91725694 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.2758G>T (p.Asp920Tyr) single nucleotide variant Long QT syndrome [RCV000820987] Chr7:92002675 [GRCh38]
Chr7:91631989 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1203C>T (p.Val401=) single nucleotide variant AKAP9-related disorder [RCV003892774]|Cardiovascular phenotype [RCV002345930]|Long QT syndrome [RCV001087465]|not provided [RCV000845471] Chr7:92001120 [GRCh38]
Chr7:91630434 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6518G>A (p.Arg2173Gln) single nucleotide variant Cardiovascular phenotype [RCV002360934]|Long QT syndrome 11 [RCV002487672]|Long QT syndrome [RCV000797797] Chr7:92070915 [GRCh38]
Chr7:91700229 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.6035C>G (p.Ala2012Gly) single nucleotide variant Cardiovascular phenotype [RCV002352457]|Long QT syndrome 11 [RCV002487839]|Long QT syndrome [RCV000821241] Chr7:92065288 [GRCh38]
Chr7:91694602 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.576+307G>A single nucleotide variant not provided [RCV000842877] Chr7:91993362 [GRCh38]
Chr7:91622676 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.4692+279G>A single nucleotide variant not provided [RCV000842886] Chr7:92039051 [GRCh38]
Chr7:91668365 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.5162+318G>A single nucleotide variant not provided [RCV000842889] Chr7:92043089 [GRCh38]
Chr7:91672403 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.5368+280T>C single nucleotide variant not provided [RCV000842890] Chr7:92045493 [GRCh38]
Chr7:91674807 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.6507+259G>A single nucleotide variant not provided [RCV000842892] Chr7:92070465 [GRCh38]
Chr7:91699779 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.6508-312A>C single nucleotide variant not provided [RCV000842893] Chr7:92070593 [GRCh38]
Chr7:91699907 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.11546+321T>C single nucleotide variant not provided [RCV000842894] Chr7:92107743 [GRCh38]
Chr7:91737057 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.11240C>T (p.Pro3747Leu) single nucleotide variant Cardiovascular phenotype [RCV002440632]|Long QT syndrome [RCV000794933] Chr7:92102736 [GRCh38]
Chr7:91732050 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9683A>G (p.Lys3228Arg) single nucleotide variant Cardiovascular phenotype [RCV004028849]|Long QT syndrome [RCV000815318] Chr7:92095127 [GRCh38]
Chr7:91724441 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.185G>A (p.Cys62Tyr) single nucleotide variant Long QT syndrome [RCV000809779]|not provided [RCV000998824] Chr7:91973847 [GRCh38]
Chr7:91603161 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11417-143T>G single nucleotide variant not provided [RCV000830178] Chr7:92107150 [GRCh38]
Chr7:91736464 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.10774A>C (p.Asn3592His) single nucleotide variant Cardiovascular phenotype [RCV002416285]|Long QT syndrome 11 [RCV002479184]|Long QT syndrome [RCV003117677]|not provided [RCV000998836] Chr7:92099747 [GRCh38]
Chr7:91729061 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7721A>G (p.Asn2574Ser) single nucleotide variant Long QT syndrome [RCV000812255] Chr7:92079854 [GRCh38]
Chr7:91709168 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6087T>G (p.Asp2029Glu) single nucleotide variant Long QT syndrome [RCV000796231] Chr7:92065340 [GRCh38]
Chr7:91694654 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3533-161G>T single nucleotide variant not provided [RCV000831076] Chr7:92014088 [GRCh38]
Chr7:91643402 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.3613-178A>G single nucleotide variant not provided [RCV000831077] Chr7:92015951 [GRCh38]
Chr7:91645265 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.4338+193G>C single nucleotide variant not provided [RCV000831080] Chr7:92031797 [GRCh38]
Chr7:91661111 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.4339-41T>G single nucleotide variant Long QT syndrome 11 [RCV002253611]|not provided [RCV000831081] Chr7:92038378 [GRCh38]
Chr7:91667692 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.5059-129C>A single nucleotide variant not provided [RCV000831083] Chr7:92042539 [GRCh38]
Chr7:91671853 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.5602-117A>G single nucleotide variant not provided [RCV000831084] Chr7:92061143 [GRCh38]
Chr7:91690457 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.11546+185C>T single nucleotide variant not provided [RCV000831104] Chr7:92107607 [GRCh38]
Chr7:91736921 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.2069_2075del (p.Thr690fs) deletion Long QT syndrome [RCV000794688] Chr7:92001985..92001991 [GRCh38]
Chr7:91631299..91631305 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2550T>G (p.Phe850Leu) single nucleotide variant Long QT syndrome [RCV000811385] Chr7:92002467 [GRCh38]
Chr7:91631781 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9113G>A (p.Arg3038His) single nucleotide variant Cardiovascular phenotype [RCV002370174]|Long QT syndrome [RCV000810251] Chr7:92086316 [GRCh38]
Chr7:91715630 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9106G>A (p.Glu3036Lys) single nucleotide variant Long QT syndrome [RCV000793821] Chr7:92086309 [GRCh38]
Chr7:91715623 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9793C>G (p.Gln3265Glu) single nucleotide variant Cardiovascular phenotype [RCV002381867]|Long QT syndrome [RCV000821470] Chr7:92096752 [GRCh38]
Chr7:91726066 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7933G>C (p.Glu2645Gln) single nucleotide variant Cardiovascular phenotype [RCV002422782]|Long QT syndrome [RCV000810524] Chr7:92080066 [GRCh38]
Chr7:91709380 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3751+312T>C single nucleotide variant not provided [RCV000830825] Chr7:92016579 [GRCh38]
Chr7:91645893 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7162T>C (p.Leu2388=) single nucleotide variant not provided [RCV000921044] Chr7:92079295 [GRCh38]
Chr7:91708609 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4149-59C>G single nucleotide variant Long QT syndrome 11 [RCV002253610]|not provided [RCV000831079] Chr7:92029836 [GRCh38]
Chr7:91659150 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.4693-180G>A single nucleotide variant not provided [RCV000831082] Chr7:92040494 [GRCh38]
Chr7:91669808 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.10608-38G>A single nucleotide variant Long QT syndrome 11 [RCV002253613]|not provided [RCV000831101] Chr7:92098071 [GRCh38]
Chr7:91727385 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.9214-68T>A single nucleotide variant not provided [RCV000833967] Chr7:92089317 [GRCh38]
Chr7:91718631 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6508-239C>T single nucleotide variant not provided [RCV000837374] Chr7:92070666 [GRCh38]
Chr7:91699980 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.11416+222A>G single nucleotide variant not provided [RCV000837375] Chr7:92105985 [GRCh38]
Chr7:91735299 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.11097+221A>T single nucleotide variant not provided [RCV000837481] Chr7:92101277 [GRCh38]
Chr7:92101277..92101278 [GRCh38]
Chr7:91730591 [GRCh37]
Chr7:91730591..91730592 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.9656A>C (p.Glu3219Ala) single nucleotide variant Long QT syndrome [RCV000810906] Chr7:92095100 [GRCh38]
Chr7:91724414 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2762A>G (p.Lys921Arg) single nucleotide variant Long QT syndrome [RCV000815983] Chr7:92002679 [GRCh38]
Chr7:91631993 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.547G>A (p.Val183Ile) single nucleotide variant Long QT syndrome 11 [RCV002487705]|Long QT syndrome [RCV000803025] Chr7:91993026 [GRCh38]
Chr7:91622340 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4825A>C (p.Arg1609=) single nucleotide variant AKAP9-related disorder [RCV003938226]|Cardiovascular phenotype [RCV002336760]|Long QT syndrome 11 [RCV002253619]|Long QT syndrome [RCV000862659]|not provided [RCV001536583] Chr7:92040806 [GRCh38]
Chr7:91670120 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.3533-141C>G single nucleotide variant not provided [RCV000834663] Chr7:92014108 [GRCh38]
Chr7:91643422 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9094C>G (p.Gln3032Glu) single nucleotide variant AKAP9-related disorder [RCV003411786]|Cardiovascular phenotype [RCV002370160]|Long QT syndrome 11 [RCV002487742]|Long QT syndrome [RCV000808539] Chr7:92086297 [GRCh38]
Chr7:91715611 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6302A>C (p.Gln2101Pro) single nucleotide variant Long QT syndrome [RCV000811271] Chr7:92066518 [GRCh38]
Chr7:91695832 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.723A>G (p.Gln241=) single nucleotide variant Cardiovascular phenotype [RCV002372557]|Long QT syndrome [RCV001464001] Chr7:91994767 [GRCh38]
Chr7:91624081 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.919G>C (p.Val307Leu) single nucleotide variant Cardiovascular phenotype [RCV003169011]|Long QT syndrome [RCV000820716] Chr7:91995789 [GRCh38]
Chr7:91625103 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4440G>T (p.Val1480=) single nucleotide variant Cardiovascular phenotype [RCV002332824]|Long QT syndrome [RCV002539965] Chr7:92038520 [GRCh38]
Chr7:91667834 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.2559T>C (p.Ala853=) single nucleotide variant AKAP9-related disorder [RCV003975436]|Cardiovascular phenotype [RCV002427181]|not provided [RCV000872177] Chr7:92002476 [GRCh38]
Chr7:91631790 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6720T>C (p.Ser2240=) single nucleotide variant Cardiovascular phenotype [RCV003169193]|Long QT syndrome [RCV001456366] Chr7:92076962 [GRCh38]
Chr7:91706276 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10305A>G (p.Arg3435=) single nucleotide variant Long QT syndrome [RCV000980686]|not provided [RCV004705989] Chr7:92097264 [GRCh38]
Chr7:91726578 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2275A>G (p.Met759Val) single nucleotide variant Long QT syndrome [RCV000793390] Chr7:92002192 [GRCh38]
Chr7:91631506 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6765+303C>G single nucleotide variant not provided [RCV000832738] Chr7:92077310 [GRCh38]
Chr7:91706624 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.11330+268T>A single nucleotide variant not provided [RCV000832767] Chr7:92103094 [GRCh38]
Chr7:91732408 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11417-311C>T single nucleotide variant not provided [RCV000832768] Chr7:92106982 [GRCh38]
Chr7:91736296 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9115A>G (p.Ser3039Gly) single nucleotide variant Cardiovascular phenotype [RCV002370138]|Long QT syndrome 11 [RCV002477848]|Long QT syndrome [RCV000804784] Chr7:92086318 [GRCh38]
Chr7:91715632 [GRCh37]
Chr7:7q21.2		 benign|uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_005751.5(AKAP9):c.3643A>C (p.Thr1215Pro) single nucleotide variant not provided [RCV001090897] Chr7:92016159 [GRCh38]
Chr7:91645473 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4672A>G (p.Thr1558Ala) single nucleotide variant Cardiovascular phenotype [RCV004030245]|Long QT syndrome [RCV002549108]|not provided [RCV000998829] Chr7:92038752 [GRCh38]
Chr7:91668066 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8659C>A (p.Pro2887Thr) single nucleotide variant Long QT syndrome [RCV001869411] Chr7:92084652 [GRCh38]
Chr7:91713966 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4765G>A (p.Asp1589Asn) single nucleotide variant Cardiovascular phenotype [RCV003307576]|not provided [RCV000845339] Chr7:92040746 [GRCh38]
Chr7:91670060 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.576+5G>T single nucleotide variant Long QT syndrome [RCV001246368]|not provided [RCV001587280] Chr7:91993060 [GRCh38]
Chr7:91622374 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.2213_2215del (p.Lys738_Gly739delinsSer) deletion not provided [RCV000998826] Chr7:92002130..92002132 [GRCh38]
Chr7:91631444..91631446 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5368+4C>T single nucleotide variant Cardiovascular phenotype [RCV002346206]|Long QT syndrome 11 [RCV002481794]|Long QT syndrome [RCV001858886] Chr7:92045217 [GRCh38]
Chr7:91674531 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5467C>G (p.Gln1823Glu) single nucleotide variant Cardiovascular phenotype [RCV002348688]|Long QT syndrome 11 [RCV002484143]|Long QT syndrome [RCV001210726] Chr7:92052824 [GRCh38]
Chr7:91682138 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11426A>G (p.Lys3809Arg) single nucleotide variant Long QT syndrome [RCV001246247] Chr7:92107302 [GRCh38]
Chr7:91736616 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.733-27C>T single nucleotide variant not provided [RCV001571204] Chr7:91995576 [GRCh38]
Chr7:91624890 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6210+43G>A single nucleotide variant not provided [RCV001564362] Chr7:92065506 [GRCh38]
Chr7:91694820 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11347C>T (p.Arg3783Ter) single nucleotide variant Long QT syndrome [RCV003770180]|not specified [RCV001192967] Chr7:92105694 [GRCh38]
Chr7:91735008 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10931T>C (p.Ile3644Thr) single nucleotide variant Cardiovascular phenotype [RCV002447037]|Long QT syndrome [RCV001859171]|not specified [RCV001193561] Chr7:92100890 [GRCh38]
Chr7:91730204 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10121T>G (p.Leu3374Trp) single nucleotide variant Long QT syndrome [RCV001229636] Chr7:92097080 [GRCh38]
Chr7:91726394 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3613-4A>G single nucleotide variant Long QT syndrome [RCV001213025] Chr7:92016125 [GRCh38]
Chr7:91645439 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4131G>C (p.Glu1377Asp) single nucleotide variant Cardiovascular phenotype [RCV002327467]|Long QT syndrome 11 [RCV002491617]|Long QT syndrome [RCV001204698] Chr7:92022992 [GRCh38]
Chr7:91652306 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10313G>A (p.Gly3438Glu) single nucleotide variant Long QT syndrome [RCV001222320] Chr7:92097272 [GRCh38]
Chr7:91726586 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11351G>A (p.Arg3784Gln) single nucleotide variant Long QT syndrome 11 [RCV002491655]|Long QT syndrome [RCV001213551] Chr7:92105698 [GRCh38]
Chr7:91735012 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7670G>C (p.Ser2557Thr) single nucleotide variant Long QT syndrome [RCV001236661] Chr7:92079803 [GRCh38]
Chr7:91709117 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10145A>C (p.Lys3382Thr) single nucleotide variant Cardiovascular phenotype [RCV002322084]|Long QT syndrome [RCV001223866] Chr7:92097104 [GRCh38]
Chr7:91726418 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.3640T>C (p.Tyr1214His) single nucleotide variant Long QT syndrome [RCV001223995] Chr7:92016156 [GRCh38]
Chr7:91645470 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4457A>G (p.His1486Arg) single nucleotide variant Cardiovascular phenotype [RCV002327576]|Long QT syndrome [RCV001239555] Chr7:92038537 [GRCh38]
Chr7:91667851 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11360G>A (p.Arg3787Gln) single nucleotide variant Cardiovascular phenotype [RCV002322012]|Long QT syndrome 11 [RCV003142133]|Long QT syndrome [RCV001206210] Chr7:92105707 [GRCh38]
Chr7:91735021 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4026A>T (p.Glu1342Asp) single nucleotide variant Long QT syndrome [RCV001239366] Chr7:92022887 [GRCh38]
Chr7:91652201 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1754T>A (p.Leu585Gln) single nucleotide variant Long QT syndrome [RCV001239578] Chr7:92001671 [GRCh38]
Chr7:91630985 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6976G>A (p.Asp2326Asn) single nucleotide variant Long QT syndrome [RCV001243227] Chr7:92079109 [GRCh38]
Chr7:91708423 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1103A>G (p.Gln368Arg) single nucleotide variant Cardiovascular phenotype [RCV002451439]|Long QT syndrome [RCV001206666] Chr7:92001020 [GRCh38]
Chr7:91630334 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6002T>C (p.Leu2001Ser) single nucleotide variant Long QT syndrome [RCV001209507] Chr7:92065255 [GRCh38]
Chr7:91694569 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.48+5G>A single nucleotide variant Cardiovascular phenotype [RCV002339536]|Long QT syndrome 11 [RCV002480690]|Long QT syndrome [RCV001209568]|not specified [RCV003155371] Chr7:91941152 [GRCh38]
Chr7:91570466 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2743T>A (p.Ser915Thr) single nucleotide variant Cardiovascular phenotype [RCV002436809]|Long QT syndrome 11 [RCV002484138]|Long QT syndrome [RCV001209831] Chr7:92002660 [GRCh38]
Chr7:91631974 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9022G>A (p.Glu3008Lys) single nucleotide variant Cardiovascular phenotype [RCV002375264]|Long QT syndrome 11 [RCV002484312]|Long QT syndrome [RCV001239838] Chr7:92085684 [GRCh38]
Chr7:91714998 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3299A>G (p.Asn1100Ser) single nucleotide variant Cardiovascular phenotype [RCV002322149]|Long QT syndrome 11 [RCV002491808]|Long QT syndrome [RCV001241859] Chr7:92003216 [GRCh38]
Chr7:91632530 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.8003A>G (p.Asp2668Gly) single nucleotide variant Long QT syndrome [RCV001213173] Chr7:92080136 [GRCh38]
Chr7:91709450 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9851A>G (p.Tyr3284Cys) single nucleotide variant Cardiovascular phenotype [RCV002379951]|Long QT syndrome [RCV001248244] Chr7:92096810 [GRCh38]
Chr7:91726124 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5036G>A (p.Arg1679His) single nucleotide variant Cardiovascular phenotype [RCV002345937]|Long QT syndrome 11 [RCV002478947]|Long QT syndrome [RCV000852581] Chr7:92042164 [GRCh38]
Chr7:91671478 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.4029A>G (p.Leu1343=) single nucleotide variant not provided [RCV000998828] Chr7:92022890 [GRCh38]
Chr7:91652204 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11348G>A (p.Arg3783Gln) single nucleotide variant Long QT syndrome [RCV003647824]|not provided [RCV001090898]|not specified [RCV001175423] Chr7:92105695 [GRCh38]
Chr7:91735009 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4367C>A (p.Ala1456Asp) single nucleotide variant Long QT syndrome 11 [RCV001198652] Chr7:92038447 [GRCh38]
Chr7:91667761 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8481A>C (p.Lys2827Asn) single nucleotide variant Long QT syndrome [RCV001246426] Chr7:92083490 [GRCh38]
Chr7:91712804 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7074A>C (p.Lys2358Asn) single nucleotide variant Cardiovascular phenotype [RCV002365889]|Long QT syndrome 11 [RCV002504218]|Long QT syndrome [RCV001229168]|not specified [RCV001192964] Chr7:92079207 [GRCh38]
Chr7:91708521 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4917+121del deletion not provided [RCV001549714] Chr7:92041005 [GRCh38]
Chr7:91670319 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6331-30A>T single nucleotide variant not provided [RCV001572128] Chr7:92070000 [GRCh38]
Chr7:91699314 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3319-29T>C single nucleotide variant not provided [RCV001569397] Chr7:92012400 [GRCh38]
Chr7:91641714 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5162+5A>G single nucleotide variant Cardiovascular phenotype [RCV003162129]|Long QT syndrome [RCV003107066] Chr7:92042776 [GRCh38]
Chr7:91672090 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6765+106del deletion not provided [RCV001551342] Chr7:92077097 [GRCh38]
Chr7:91706411 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11098-106T>C single nucleotide variant not provided [RCV001570633] Chr7:92102488 [GRCh38]
Chr7:91731802 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8646+131T>G single nucleotide variant not provided [RCV001560016] Chr7:92083786 [GRCh38]
Chr7:91713100 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4003_4004insC (p.Lys1335fs) insertion not provided [RCV001638646] Chr7:92022864..92022865 [GRCh38]
Chr7:91652178..91652179 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.11098-145TAC[13] microsatellite not provided [RCV001638715] Chr7:92102449..92102451 [GRCh38]
Chr7:91731763..91731765 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.931-168T>A single nucleotide variant not provided [RCV001555038] Chr7:92000680 [GRCh38]
Chr7:91629994 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.576+122TTC[5] microsatellite not provided [RCV001555093] Chr7:91993177..91993179 [GRCh38]
Chr7:91622491..91622493 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6507+198_6507+215del deletion not provided [RCV001653991] Chr7:92070399..92070416 [GRCh38]
Chr7:91699713..91699730 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.6765+88dup duplication not provided [RCV001675267] Chr7:92077092..92077093 [GRCh38]
Chr7:91706406..91706407 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.6507+27A>C single nucleotide variant not provided [RCV001591590] Chr7:92070233 [GRCh38]
Chr7:91699547 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9358+91T>A single nucleotide variant not provided [RCV001576641] Chr7:92089620 [GRCh38]
Chr7:91718934 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6211-24A>G single nucleotide variant not provided [RCV001687213] Chr7:92066403 [GRCh38]
Chr7:91695717 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.3751+212G>T single nucleotide variant not provided [RCV001641637] Chr7:92016479 [GRCh38]
Chr7:91645793 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.11098-104_11098-103insTACTACCAC microsatellite not provided [RCV001556934] Chr7:92102488..92102489 [GRCh38]
Chr7:91731802..91731803 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4693-12_4693-11dup duplication not provided [RCV001557077] Chr7:92040646..92040647 [GRCh38]
Chr7:91669960..91669961 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6507+196TTGTT[7] microsatellite not provided [RCV001717839] Chr7:92070402..92070411 [GRCh38]
Chr7:91699716..91699725 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.9357A>G (p.Gln3119=) single nucleotide variant not provided [RCV001714329] Chr7:92089528 [GRCh38]
Chr7:91718842 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.10714-78C>T single nucleotide variant not provided [RCV001716197] Chr7:92099609 [GRCh38]
Chr7:91728923 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.4693-38T>C single nucleotide variant not provided [RCV001592232] Chr7:92040636 [GRCh38]
Chr7:91669950 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4693-30T>G single nucleotide variant not provided [RCV001594073] Chr7:92040644 [GRCh38]
Chr7:91669958 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8646+78T>C single nucleotide variant not provided [RCV001581496] Chr7:92083733 [GRCh38]
Chr7:92083733..92083734 [GRCh38]
Chr7:91713047 [GRCh37]
Chr7:91713047..91713048 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9536T>A (p.Leu3179His) single nucleotide variant not provided [RCV001700576] Chr7:92093274 [GRCh38]
Chr7:91722588 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9359-70T>C single nucleotide variant not provided [RCV001557629] Chr7:92093027 [GRCh38]
Chr7:91722341 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8747C>A (p.Thr2916Lys) single nucleotide variant Cardiovascular phenotype [RCV002370265]|Long QT syndrome 11 [RCV002503157]|Long QT syndrome [RCV001882773]|not provided [RCV001700547] Chr7:92084855 [GRCh38]
Chr7:91714169 [GRCh37]
Chr7:7q21.2		 benign|likely benign|uncertain significance
NM_005751.5(AKAP9):c.9729+17C>T single nucleotide variant Long QT syndrome 11 [RCV002253919]|Long QT syndrome [RCV002072961]|not provided [RCV001639950] Chr7:92095190 [GRCh38]
Chr7:91724504 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.11098-145TAC[15] microsatellite not provided [RCV001557929] Chr7:92102448..92102449 [GRCh38]
Chr7:91731762..91731763 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11331-175A>G single nucleotide variant not provided [RCV001558049] Chr7:92105503 [GRCh38]
Chr7:91734817 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5602-272T>C single nucleotide variant not provided [RCV001714084] Chr7:92060988 [GRCh38]
Chr7:91690302 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.4338+207C>T single nucleotide variant not provided [RCV001558583] Chr7:92031811 [GRCh38]
Chr7:91661125 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4692+140T>C single nucleotide variant not provided [RCV001587882] Chr7:92038912 [GRCh38]
Chr7:91668226 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.406-200dup duplication not provided [RCV001676840] Chr7:91992661..91992662 [GRCh38]
Chr7:91621975..91621976 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.11307C>T (p.Val3769=) single nucleotide variant Long QT syndrome [RCV003106243]|not provided [RCV001620770] Chr7:92102803 [GRCh38]
Chr7:91732117 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.5764+163TA[21] microsatellite not provided [RCV001530901] Chr7:92061584..92061585 [GRCh38]
Chr7:91690898..91690899 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5764+163TA[14] microsatellite not provided [RCV001718526] Chr7:92061585..92061592 [GRCh38]
Chr7:91690899..91690906 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.4917+121dup duplication not provided [RCV001654810] Chr7:92041004..92041005 [GRCh38]
Chr7:91670318..91670319 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.11012C>T (p.Ala3671Val) single nucleotide variant Cardiovascular phenotype [RCV004039556]|not provided [RCV001653168] Chr7:92100971 [GRCh38]
Chr7:91730285 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8610C>A (p.Thr2870=) single nucleotide variant Cardiovascular phenotype [RCV002445081]|Long QT syndrome [RCV001459606] Chr7:92083619 [GRCh38]
Chr7:91712933 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11330+7A>G single nucleotide variant Long QT syndrome 11 [RCV002253629]|Long QT syndrome [RCV002064526]|not provided [RCV000865994] Chr7:92102833 [GRCh38]
Chr7:91732147 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.8647-8C>T single nucleotide variant Long QT syndrome [RCV000929774] Chr7:92084632 [GRCh38]
Chr7:91713946 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6303_6317del (p.Gln2101_Glu2105del) deletion Cardiomyopathy [RCV000853017] Chr7:92066517..92066531 [GRCh38]
Chr7:91695831..91695845 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6306T>C (p.Pro2102=) single nucleotide variant not provided [RCV000979639] Chr7:92066522 [GRCh38]
Chr7:91695836 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5163-8C>T single nucleotide variant Long QT syndrome [RCV000863140] Chr7:92045000 [GRCh38]
Chr7:91674314 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1215G>A (p.Gln405=) single nucleotide variant Cardiovascular phenotype [RCV002352547]|Long QT syndrome [RCV001431326] Chr7:92001132 [GRCh38]
Chr7:91630446 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7788G>A (p.Glu2596=) single nucleotide variant Cardiovascular phenotype [RCV002409097]|Long QT syndrome [RCV001427346]|not provided [RCV000873499]|not specified [RCV001701337] Chr7:92079921 [GRCh38]
Chr7:91709235 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.9129A>G (p.Ala3043=) single nucleotide variant Long QT syndrome [RCV003532309] Chr7:92086332 [GRCh38]
Chr7:91715646 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6146T>C (p.Met2049Thr) single nucleotide variant Long QT syndrome [RCV001242119] Chr7:92065399 [GRCh38]
Chr7:91694713 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2704T>G (p.Leu902Val) single nucleotide variant AKAP9-related disorder [RCV003393897]|Long QT syndrome [RCV001225917] Chr7:92002621 [GRCh38]
Chr7:91631935 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5771T>C (p.Ile1924Thr) single nucleotide variant Cardiovascular phenotype [RCV002357043]|Long QT syndrome [RCV001244598] Chr7:92062280 [GRCh38]
Chr7:91691594 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9555C>A (p.His3185Gln) single nucleotide variant Long QT syndrome [RCV001236488] Chr7:92093293 [GRCh38]
Chr7:91722607 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.281G>T (p.Ser94Ile) single nucleotide variant Long QT syndrome [RCV001245480] Chr7:91973943 [GRCh38]
Chr7:91603257 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10560A>G (p.Gln3520=) single nucleotide variant AKAP9-related disorder [RCV003414000]|Cardiovascular phenotype [RCV002402615]|Long QT syndrome [RCV001209083] Chr7:92097747 [GRCh38]
Chr7:91727061 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.1226A>C (p.His409Pro) single nucleotide variant Cardiovascular phenotype [RCV002366060]|Long QT syndrome 11 [RCV002499395]|Long QT syndrome [RCV001240353] Chr7:92001143 [GRCh38]
Chr7:91630457 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9022G>C (p.Glu3008Gln) single nucleotide variant Long QT syndrome [RCV001231432] Chr7:92085684 [GRCh38]
Chr7:91714998 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3838-4A>G single nucleotide variant Cardiovascular phenotype [RCV004033762]|Long QT syndrome 11 [RCV002504247]|Long QT syndrome [RCV001209200] Chr7:92022234 [GRCh38]
Chr7:91651548 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8648G>T (p.Gly2883Val) single nucleotide variant Long QT syndrome [RCV001225203] Chr7:92084641 [GRCh38]
Chr7:91713955 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10741T>G (p.Cys3581Gly) single nucleotide variant Cardiovascular phenotype [RCV002418830]|Long QT syndrome [RCV001241599]|not specified [RCV001586082] Chr7:92099714 [GRCh38]
Chr7:91729028 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.1682C>T (p.Ala561Val) single nucleotide variant Cardiovascular phenotype [RCV002411890]|Long QT syndrome [RCV001241646]|not specified [RCV004699228] Chr7:92001599 [GRCh38]
Chr7:91630913 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.11687-3dup duplication Long QT syndrome [RCV001225424] Chr7:92110118..92110119 [GRCh38]
Chr7:91739432..91739433 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5176A>G (p.Lys1726Glu) single nucleotide variant Long QT syndrome [RCV001241862] Chr7:92045021 [GRCh38]
Chr7:91674335 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9358+7T>C single nucleotide variant not provided [RCV000935385] Chr7:92089536 [GRCh38]
Chr7:91718850 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1647G>A (p.Gln549=) single nucleotide variant Long QT syndrome [RCV001462232] Chr7:92001564 [GRCh38]
Chr7:91630878 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5157T>C (p.Asn1719=) single nucleotide variant Long QT syndrome [RCV001426560] Chr7:92042766 [GRCh38]
Chr7:91672080 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1104A>T (p.Gln368His) single nucleotide variant Long QT syndrome [RCV002771044] Chr7:92001021 [GRCh38]
Chr7:91630335 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11546+186G>A single nucleotide variant not provided [RCV001718548] Chr7:92107608 [GRCh38]
Chr7:91736922 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.643CAA[1] (p.Gln216del) microsatellite not provided [RCV003232009] Chr7:91994686..91994688 [GRCh38]
Chr7:91624000..91624002 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4693-9C>T single nucleotide variant not provided [RCV001558137] Chr7:92040665 [GRCh38]
Chr7:91669979 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6507+196TTGTT[10] microsatellite not provided [RCV001719471] Chr7:92070401..92070402 [GRCh38]
Chr7:91699715..91699716 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.3838-164G>A single nucleotide variant not provided [RCV001552998] Chr7:92022074 [GRCh38]
Chr7:91651388 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11098-5T>C single nucleotide variant not specified [RCV003231013] Chr7:92102589 [GRCh38]
Chr7:91731903 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11098-105ACC[6] microsatellite not provided [RCV001575902] Chr7:92102488..92102489 [GRCh38]
Chr7:91731802..91731803 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.-129G>A single nucleotide variant not provided [RCV001596197] Chr7:91940971 [GRCh38]
Chr7:91570285 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.11098-145TAC[11] microsatellite not provided [RCV001555117] Chr7:92102449..92102457 [GRCh38]
Chr7:91731763..91731771 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11098-49G>A single nucleotide variant not provided [RCV001555260] Chr7:92102545 [GRCh38]
Chr7:91731859 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3952+49G>T single nucleotide variant not provided [RCV001546609] Chr7:92022401 [GRCh38]
Chr7:91651715 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8020-37dup duplication not provided [RCV001550294] Chr7:92082477..92082478 [GRCh38]
Chr7:91711791..91711792 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8019+167A>G single nucleotide variant not provided [RCV001569031] Chr7:92080319 [GRCh38]
Chr7:91709633 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9358+274A>C single nucleotide variant not provided [RCV001556183] Chr7:92089803 [GRCh38]
Chr7:91719117 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8020-12G>A single nucleotide variant Long QT syndrome [RCV002538526]|not provided [RCV001654123] Chr7:92082510 [GRCh38]
Chr7:91711824 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NC_000007.14:g.91940581dup duplication not provided [RCV001677056] Chr7:91940571..91940572 [GRCh38]
Chr7:91569885..91569886 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.4918-10dup duplication Long QT syndrome 11 [RCV002502016]|Long QT syndrome [RCV002538593]|not provided [RCV001674631] Chr7:92042030..92042031 [GRCh38]
Chr7:91671344..91671345 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.4148+18G>C single nucleotide variant Long QT syndrome 11 [RCV002253907]|Long QT syndrome [RCV002072934]|not provided [RCV001621713]|not specified [RCV004690119] Chr7:92023027 [GRCh38]
Chr7:91652341 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.4693-11dup duplication not provided [RCV001620034] Chr7:92040646..92040647 [GRCh38]
Chr7:91669960..91669961 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.3672A>G (p.Ala1224=) single nucleotide variant Cardiovascular phenotype [RCV003382630]|Long QT syndrome [RCV003647844]|not provided [RCV001595813] Chr7:92016188 [GRCh38]
Chr7:91645502 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.4693-12_4693-11del deletion not provided [RCV001594156] Chr7:92040647..92040648 [GRCh38]
Chr7:91669961..91669962 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5369-6T>G single nucleotide variant not provided [RCV001640911] Chr7:92052720 [GRCh38]
Chr7:91682034 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.6507+196TTGTT[8] microsatellite not provided [RCV001714554] Chr7:92070402..92070406 [GRCh38]
Chr7:91699716..91699720 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.11098-145TAC[17] microsatellite not provided [RCV001595548] Chr7:92102448..92102449 [GRCh38]
Chr7:91731762..91731763 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.6765+243G>A single nucleotide variant not provided [RCV001673461] Chr7:92077250 [GRCh38]
Chr7:91706564 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.5368+7G>C single nucleotide variant not provided [RCV001676783] Chr7:92045220 [GRCh38]
Chr7:91674534 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.5163-130_5163-128dup duplication not provided [RCV001620445] Chr7:92044876..92044877 [GRCh38]
Chr7:91674190..91674191 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.6893A>G (p.Asn2298Ser) single nucleotide variant Long QT syndrome [RCV003647833]|not specified [RCV001192965] Chr7:92077823 [GRCh38]
Chr7:91707137 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5153C>A (p.Ser1718Tyr) single nucleotide variant Long QT syndrome 11 [RCV001001990] Chr7:92042762 [GRCh38]
Chr7:91672076 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9053G>A (p.Ser3018Asn) single nucleotide variant Cardiovascular phenotype [RCV002372794]|Long QT syndrome [RCV001046250] Chr7:92086256 [GRCh38]
Chr7:91715570 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3066A>G (p.Gly1022=) single nucleotide variant Cardiovascular phenotype [RCV002445412]|Long QT syndrome 11 [RCV002253779]|Long QT syndrome [RCV001410281]|not provided [RCV001724261]|not specified [RCV001174574] Chr7:92002983 [GRCh38]
Chr7:91632297 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.6507+196TTGTT[6] microsatellite not provided [RCV001588497] Chr7:92070402..92070416 [GRCh38]
Chr7:91699716..91699730 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.217G>T (p.Val73Leu) single nucleotide variant Cardiovascular phenotype [RCV002429621]|Long QT syndrome [RCV001047202] Chr7:91973879 [GRCh38]
Chr7:91603193 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6765+89C>T single nucleotide variant not provided [RCV001666998] Chr7:92077096 [GRCh38]
Chr7:91706410 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.5764+163TA[17] microsatellite not provided [RCV001665923] Chr7:92061585..92061586 [GRCh38]
Chr7:91690899..91690900 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.5764+163TA[15] microsatellite not provided [RCV001694734] Chr7:92061585..92061590 [GRCh38]
Chr7:91690899..91690904 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.406-201_406-200dup duplication not provided [RCV001707505] Chr7:91992661..91992662 [GRCh38]
Chr7:91621975..91621976 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.11098-104_11098-103insTACCAC insertion not provided [RCV001585314] Chr7:92102488..92102489 [GRCh38]
Chr7:91731802..91731803 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4693-26_4693-25insG insertion not provided [RCV001589760] Chr7:92040648..92040649 [GRCh38]
Chr7:91669962..91669963 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.406-224C>A single nucleotide variant not provided [RCV001724944] Chr7:91992661 [GRCh38]
Chr7:91621975 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.11097+295C>T single nucleotide variant not provided [RCV001648165] Chr7:92101351 [GRCh38]
Chr7:91730665 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.11098-145TAC[16] microsatellite not provided [RCV001585428] Chr7:92102448..92102449 [GRCh38]
Chr7:91731762..91731763 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4004_4005insC (p.Lys1335fs) insertion not provided [RCV001649178] Chr7:92022865..92022866 [GRCh38]
Chr7:91652179..91652180 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.7190C>G (p.Ala2397Gly) single nucleotide variant Cardiovascular phenotype [RCV002370266]|Long QT syndrome [RCV001868388]|not provided [RCV001700582] Chr7:92079323 [GRCh38]
Chr7:91708637 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.5162+60T>C single nucleotide variant not provided [RCV001670553] Chr7:92042831 [GRCh38]
Chr7:91672145 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.6765+61TTA[8] microsatellite not provided [RCV001708078] Chr7:92077067..92077068 [GRCh38]
Chr7:91706381..91706382 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.6508-20A>T single nucleotide variant Long QT syndrome 11 [RCV002253890]|Long QT syndrome [RCV002070476]|not provided [RCV001608519]|not specified [RCV001701207] Chr7:92070885 [GRCh38]
Chr7:91700199 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.3533-148T>C single nucleotide variant not provided [RCV001710900] Chr7:92014101 [GRCh38]
Chr7:91643415 [GRCh37]
Chr7:7q21.2		 benign
NC_000007.14:g.(?_91994611)_(91995810_?)del deletion Long QT syndrome [RCV001033920] Chr7:91623925..91625124 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.352-155A>G single nucleotide variant not provided [RCV001709061] Chr7:91992003 [GRCh38]
Chr7:91621317 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.2684C>A (p.Ala895Glu) single nucleotide variant Cardiovascular phenotype [RCV002429742]|Long QT syndrome [RCV001070225] Chr7:92002601 [GRCh38]
Chr7:91631915 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10027G>A (p.Asp3343Asn) single nucleotide variant Cardiovascular phenotype [RCV002379535]|Long QT syndrome [RCV001048476]|not provided [RCV004702602] Chr7:92096986 [GRCh38]
Chr7:91726300 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9358+31A>G single nucleotide variant not provided [RCV001709130] Chr7:92089560 [GRCh38]
Chr7:91718874 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.49-3200A>G single nucleotide variant not provided [RCV001680594] Chr7:91970511 [GRCh38]
Chr7:91599825 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.6104G>A (p.Ser2035Asn) single nucleotide variant Long QT syndrome [RCV001067840] Chr7:92065357 [GRCh38]
Chr7:91694671 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9025-20C>T single nucleotide variant not provided [RCV001652425] Chr7:92086208 [GRCh38]
Chr7:91715522 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.8646+59del deletion Long QT syndrome 11 [RCV002253976]|not provided [RCV001714464] Chr7:92083703 [GRCh38]
Chr7:91713017 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.1074A>T (p.Leu358Phe) single nucleotide variant not provided [RCV001537387] Chr7:92000991 [GRCh38]
Chr7:91630305 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2305A>G (p.Lys769Glu) single nucleotide variant Long QT syndrome [RCV001206338] Chr7:92002222 [GRCh38]
Chr7:91631536 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4039A>G (p.Ile1347Val) single nucleotide variant Long QT syndrome [RCV001220024] Chr7:92022900 [GRCh38]
Chr7:91652214 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4916A>G (p.Gln1639Arg) single nucleotide variant Long QT syndrome [RCV001217668] Chr7:92040897 [GRCh38]
Chr7:91670211 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3377C>A (p.Thr1126Asn) single nucleotide variant Long QT syndrome [RCV001057378] Chr7:92012487 [GRCh38]
Chr7:91641801 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.439G>C (p.Glu147Gln) single nucleotide variant Long QT syndrome [RCV001061343] Chr7:91992918 [GRCh38]
Chr7:91622232 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8468A>G (p.Gln2823Arg) single nucleotide variant Cardiovascular phenotype [RCV002445156]|Long QT syndrome 11 [RCV001000134]|Long QT syndrome [RCV001858904] Chr7:92083477 [GRCh38]
Chr7:91712791 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.2812A>G (p.Thr938Ala) single nucleotide variant Long QT syndrome 11 [RCV002489630]|Long QT syndrome [RCV001053529] Chr7:92002729 [GRCh38]
Chr7:91632043 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11366_11367del (p.Thr3789fs) microsatellite not provided [RCV001200181] Chr7:92105711..92105712 [GRCh38]
Chr7:91735025..91735026 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10138del (p.Met3380fs) deletion Long QT syndrome [RCV001057878] Chr7:92097095 [GRCh38]
Chr7:91726409 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10486G>A (p.Ala3496Thr) single nucleotide variant Cardiovascular phenotype [RCV002402597]|Long QT syndrome [RCV001206103] Chr7:92097673 [GRCh38]
Chr7:91726987 [GRCh37]
Chr7:7q21.2		 benign|uncertain significance
NM_005751.5(AKAP9):c.9032A>G (p.Asp3011Gly) single nucleotide variant Cardiovascular phenotype [RCV002375056]|Long QT syndrome [RCV001873652]|not specified [RCV001174820] Chr7:92086235 [GRCh38]
Chr7:91715549 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.8335G>T (p.Ala2779Ser) single nucleotide variant Cardiovascular phenotype [RCV004031722]|Long QT syndrome [RCV001054637] Chr7:92083344 [GRCh38]
Chr7:91712658 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10769G>A (p.Arg3590Lys) single nucleotide variant Cardiovascular phenotype [RCV004629427]|Long QT syndrome [RCV001054901] Chr7:92099742 [GRCh38]
Chr7:91729056 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1700C>T (p.Thr567Ile) single nucleotide variant Long QT syndrome 11 [RCV002479260]|Long QT syndrome [RCV001040664] Chr7:92001617 [GRCh38]
Chr7:91630931 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5621C>T (p.Thr1874Ile) single nucleotide variant Long QT syndrome 11 [RCV001197733] Chr7:92061279 [GRCh38]
Chr7:91690593 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4615C>T (p.Pro1539Ser) single nucleotide variant Cardiovascular phenotype [RCV002327476]|Long QT syndrome [RCV001207186] Chr7:92038695 [GRCh38]
Chr7:91668009 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2997C>G (p.Ile999Met) single nucleotide variant AKAP9-related disorder [RCV003945937]|Cardiovascular phenotype [RCV002436909]|Long QT syndrome [RCV001231881] Chr7:92002914 [GRCh38]
Chr7:91632228 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4513A>G (p.Thr1505Ala) single nucleotide variant Long QT syndrome [RCV001039937] Chr7:92038593 [GRCh38]
Chr7:91667907 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5554G>A (p.Ala1852Thr) single nucleotide variant Cardiovascular phenotype [RCV002348349]|Long QT syndrome [RCV001040369] Chr7:92052911 [GRCh38]
Chr7:91682225 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5460G>T (p.Glu1820Asp) single nucleotide variant Cardiovascular phenotype [RCV004629480]|not specified [RCV001194196] Chr7:92052817 [GRCh38]
Chr7:91682131 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.6330+3A>G single nucleotide variant Cardiovascular phenotype [RCV002363530]|Long QT syndrome 11 [RCV001000133]|Long QT syndrome [RCV001315729]|not provided [RCV001615101] Chr7:92066549 [GRCh38]
Chr7:91695863 [GRCh37]
Chr7:7q21.2		 benign|likely benign|uncertain significance
NM_005751.5(AKAP9):c.3113T>C (p.Val1038Ala) single nucleotide variant Long QT syndrome 11 [RCV001000891] Chr7:92003030 [GRCh38]
Chr7:91632344 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10486G>T (p.Ala3496Ser) single nucleotide variant Long QT syndrome [RCV001232407] Chr7:92097673 [GRCh38]
Chr7:91726987 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2615T>G (p.Leu872Arg) single nucleotide variant Long QT syndrome [RCV001057139] Chr7:92002532 [GRCh38]
Chr7:91631846 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6200A>T (p.Lys2067Ile) single nucleotide variant Cardiovascular phenotype [RCV004030487]|Long QT syndrome [RCV001063222] Chr7:92065453 [GRCh38]
Chr7:91694767 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7636A>G (p.Ile2546Val) single nucleotide variant Long QT syndrome [RCV001048829] Chr7:92079769 [GRCh38]
Chr7:91709083 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7862G>A (p.Ser2621Asn) single nucleotide variant Long QT syndrome [RCV001053573] Chr7:92079995 [GRCh38]
Chr7:91709309 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1378A>T (p.Met460Leu) single nucleotide variant Long QT syndrome [RCV001063693] Chr7:92001295 [GRCh38]
Chr7:91630609 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4665A>C (p.Lys1555Asn) single nucleotide variant not specified [RCV001255588] Chr7:92038745 [GRCh38]
Chr7:91668059 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11283C>G (p.Gly3761=) single nucleotide variant not specified [RCV001251358] Chr7:92102779 [GRCh38]
Chr7:91732093 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5923T>C (p.Leu1975=) single nucleotide variant Long QT syndrome [RCV001464385] Chr7:92062432 [GRCh38]
Chr7:91691746 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11350C>T (p.Arg3784Trp) single nucleotide variant Cardiovascular phenotype [RCV002322171]|Long QT syndrome 1 [RCV001256716] Chr7:92105697 [GRCh38]
Chr7:91735011 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4245+216T>C single nucleotide variant not provided [RCV001663213] Chr7:92030207 [GRCh38]
Chr7:91659521 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.9607G>C (p.Val3203Leu) single nucleotide variant Long QT syndrome [RCV001295181] Chr7:92095051 [GRCh38]
Chr7:91724365 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.881T>G (p.Phe294Cys) single nucleotide variant Long QT syndrome 1 [RCV001256721] Chr7:91995751 [GRCh38]
Chr7:91625065 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4528T>G (p.Phe1510Val) single nucleotide variant not specified [RCV001255486] Chr7:92038608 [GRCh38]
Chr7:91667922 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1981A>C (p.Ile661Leu) single nucleotide variant Cardiovascular phenotype [RCV002418861]|Long QT syndrome 1 [RCV001256717]|Long QT syndrome [RCV002570609] Chr7:92001898 [GRCh38]
Chr7:91631212 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3107C>T (p.Ser1036Phe) single nucleotide variant Long QT syndrome [RCV001349062] Chr7:92003024 [GRCh38]
Chr7:91632338 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4486G>T (p.Asp1496Tyr) single nucleotide variant Cardiovascular phenotype [RCV002327694]|Long QT syndrome [RCV001313028] Chr7:92038566 [GRCh38]
Chr7:91667880 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.352-206A>T single nucleotide variant not provided [RCV001540490] Chr7:91991952 [GRCh38]
Chr7:91621266 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6895G>C (p.Glu2299Gln) single nucleotide variant Cardiovascular phenotype [RCV002366141]|Long QT syndrome [RCV001303411] Chr7:92077825 [GRCh38]
Chr7:91707139 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11546+7A>G single nucleotide variant Long QT syndrome [RCV001302732] Chr7:92107429 [GRCh38]
Chr7:91736743 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9838C>G (p.Gln3280Glu) single nucleotide variant Long QT syndrome 11 [RCV001333448] Chr7:92096797 [GRCh38]
Chr7:91726111 [GRCh37]
Chr7:7q21.2		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_005751.5(AKAP9):c.3796G>A (p.Glu1266Lys) single nucleotide variant Long QT syndrome [RCV001307927] Chr7:92017061 [GRCh38]
Chr7:91646375 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8800A>G (p.Ser2934Gly) single nucleotide variant Long QT syndrome [RCV001315917] Chr7:92084908 [GRCh38]
Chr7:91714222 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2389G>A (p.Val797Ile) single nucleotide variant Long QT syndrome [RCV001298462] Chr7:92002306 [GRCh38]
Chr7:91631620 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8148AGA[1] (p.Glu2718del) microsatellite Long QT syndrome [RCV001324813] Chr7:92082649..92082651 [GRCh38]
Chr7:91711963..91711965 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4850A>G (p.Glu1617Gly) single nucleotide variant Long QT syndrome [RCV001301422] Chr7:92040831 [GRCh38]
Chr7:91670145 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2618A>G (p.Lys873Arg) single nucleotide variant Cardiovascular phenotype [RCV003382508]|Long QT syndrome [RCV001301817] Chr7:92002535 [GRCh38]
Chr7:91631849 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.1655C>T (p.Ala552Val) single nucleotide variant Long QT syndrome 11 [RCV002493698]|Long QT syndrome [RCV001325189]|not provided [RCV001508214] Chr7:92001572 [GRCh38]
Chr7:91630886 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11578G>T (p.Gly3860Cys) single nucleotide variant Long QT syndrome [RCV001314643] Chr7:92108525 [GRCh38]
Chr7:91737839 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3517A>G (p.Lys1173Glu) single nucleotide variant Long QT syndrome [RCV001297857] Chr7:92012627 [GRCh38]
Chr7:91641941 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6676G>A (p.Val2226Ile) single nucleotide variant Cardiovascular phenotype [RCV002366138]|Long QT syndrome 11 [RCV002493591]|Long QT syndrome [RCV001302182] Chr7:92076918 [GRCh38]
Chr7:91706232 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8850C>T (p.Val2950=) single nucleotide variant not specified [RCV001328337] Chr7:92085512 [GRCh38]
Chr7:91714826 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4070C>G (p.Thr1357Ser) single nucleotide variant Long QT syndrome [RCV001317262] Chr7:92022931 [GRCh38]
Chr7:91652245 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11270A>G (p.Asn3757Ser) single nucleotide variant Cardiovascular phenotype [RCV003294299]|Long QT syndrome [RCV001325422] Chr7:92102766 [GRCh38]
Chr7:91732080 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2356A>C (p.Thr786Pro) single nucleotide variant Long QT syndrome [RCV001315277] Chr7:92002273 [GRCh38]
Chr7:91631587 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5612C>T (p.Ala1871Val) single nucleotide variant Long QT syndrome [RCV001327711] Chr7:92061270 [GRCh38]
Chr7:91690584 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1768G>A (p.Glu590Lys) single nucleotide variant Long QT syndrome [RCV001317733] Chr7:92001685 [GRCh38]
Chr7:91630999 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8783G>A (p.Arg2928Gln) single nucleotide variant Cardiovascular phenotype [RCV004036373]|Long QT syndrome 11 [RCV002493603]|Long QT syndrome [RCV001305888] Chr7:92084891 [GRCh38]
Chr7:91714205 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.4707T>G (p.Ile1569Met) single nucleotide variant Cardiovascular phenotype [RCV002341706]|Long QT syndrome [RCV001343242] Chr7:92040688 [GRCh38]
Chr7:91670002 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6931A>G (p.Thr2311Ala) single nucleotide variant Cardiovascular phenotype [RCV002375412]|Long QT syndrome [RCV001318615] Chr7:92077861 [GRCh38]
Chr7:91707175 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7486A>T (p.Asn2496Tyr) single nucleotide variant Cardiovascular phenotype [RCV004034341]|Long QT syndrome [RCV001315150] Chr7:92079619 [GRCh38]
Chr7:91708933 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6970A>G (p.Ile2324Val) single nucleotide variant Cardiovascular phenotype [RCV002366120]|Long QT syndrome 11 [RCV002493560]|Long QT syndrome [RCV001296595] Chr7:92079103 [GRCh38]
Chr7:91708417 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.1027A>G (p.Lys343Glu) single nucleotide variant Long QT syndrome [RCV001318839] Chr7:92000944 [GRCh38]
Chr7:91630258 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11231G>C (p.Gly3744Ala) single nucleotide variant Cardiovascular phenotype [RCV002438704]|Long QT syndrome 11 [RCV002486227]|Long QT syndrome [RCV001314133] Chr7:92102727 [GRCh38]
Chr7:91732041 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.8654C>T (p.Ser2885Leu) single nucleotide variant Cardiovascular phenotype [RCV002447406]|Long QT syndrome 11 [RCV002486388]|Long QT syndrome [RCV001342756] Chr7:92084647 [GRCh38]
Chr7:91713961 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8524A>T (p.Met2842Leu) single nucleotide variant Long QT syndrome [RCV001343676] Chr7:92083533 [GRCh38]
Chr7:91712847 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1625A>G (p.Glu542Gly) single nucleotide variant Cardiovascular phenotype [RCV002402858]|Long QT syndrome [RCV001306710] Chr7:92001542 [GRCh38]
Chr7:91630856 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7941G>A (p.Gln2647=) single nucleotide variant Long QT syndrome [RCV001415150] Chr7:92080074 [GRCh38]
Chr7:91709388 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10426A>T (p.Arg3476Ter) single nucleotide variant Long QT syndrome [RCV001305039] Chr7:92097613 [GRCh38]
Chr7:91726927 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3793G>A (p.Glu1265Lys) single nucleotide variant Cardiovascular phenotype [RCV002368116]|Long QT syndrome 11 [RCV002486349]|Long QT syndrome [RCV001338059]|not provided [RCV001796449] Chr7:92017058 [GRCh38]
Chr7:91646372 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1413G>A (p.Met471Ile) single nucleotide variant Long QT syndrome [RCV001338178] Chr7:92001330 [GRCh38]
Chr7:91630644 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5351A>G (p.His1784Arg) single nucleotide variant Cardiovascular phenotype [RCV003298578]|Long QT syndrome [RCV001363247] Chr7:92045196 [GRCh38]
Chr7:91674510 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4097A>G (p.His1366Arg) single nucleotide variant Long QT syndrome [RCV001305317] Chr7:92022958 [GRCh38]
Chr7:91652272 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3538G>A (p.Glu1180Lys) single nucleotide variant Cardiovascular phenotype [RCV002341635]|Long QT syndrome [RCV001314430] Chr7:92014254 [GRCh38]
Chr7:91643568 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3741T>C (p.Tyr1247=) single nucleotide variant Long QT syndrome [RCV001394765] Chr7:92016257 [GRCh38]
Chr7:91645571 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2150T>C (p.Met717Thr) single nucleotide variant Long QT syndrome [RCV001368163] Chr7:92002067 [GRCh38]
Chr7:91631381 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.506A>G (p.His169Arg) single nucleotide variant Cardiovascular phenotype [RCV002350679]|Long QT syndrome [RCV001362429] Chr7:91992985 [GRCh38]
Chr7:91622299 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6330+4A>G single nucleotide variant not specified [RCV001375504] Chr7:92066550 [GRCh38]
Chr7:91695864 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6065A>G (p.Gln2022Arg) single nucleotide variant Cardiovascular phenotype [RCV004619675]|Long QT syndrome [RCV001369140] Chr7:92065318 [GRCh38]
Chr7:91694632 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8161-7G>A single nucleotide variant Long QT syndrome 11 [RCV002493947]|Long QT syndrome [RCV001397425] Chr7:92083163 [GRCh38]
Chr7:91712477 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.654A>G (p.Arg218=) single nucleotide variant Long QT syndrome [RCV001422801] Chr7:91994698 [GRCh38]
Chr7:91624012 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4362A>G (p.Ala1454=) single nucleotide variant Long QT syndrome [RCV001395731] Chr7:92038442 [GRCh38]
Chr7:91667756 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11298G>A (p.Arg3766=) single nucleotide variant AKAP9-related disorder [RCV003953759]|Cardiovascular phenotype [RCV002322420]|Long QT syndrome 11 [RCV002253812]|Long QT syndrome [RCV001415242]|not provided [RCV001619902] Chr7:92102794 [GRCh38]
Chr7:91732108 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.2867C>T (p.Ser956Leu) single nucleotide variant Cardiovascular phenotype [RCV004036273]|Long QT syndrome [RCV001303291] Chr7:92002784 [GRCh38]
Chr7:91632098 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7263T>G (p.Phe2421Leu) single nucleotide variant Long QT syndrome [RCV001359449] Chr7:92079396 [GRCh38]
Chr7:91708710 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10291C>T (p.Leu3431Phe) single nucleotide variant Long QT syndrome [RCV001359516] Chr7:92097250 [GRCh38]
Chr7:91726564 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9141G>A (p.Thr3047=) single nucleotide variant Cardiovascular phenotype [RCV002377672]|Long QT syndrome [RCV001422817] Chr7:92086344 [GRCh38]
Chr7:91715658 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11546+19C>T single nucleotide variant not specified [RCV001328361] Chr7:92107441 [GRCh38]
Chr7:91736755 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6806A>T (p.Asp2269Val) single nucleotide variant Cardiovascular phenotype [RCV002368170]|Long QT syndrome [RCV001361976] Chr7:92077736 [GRCh38]
Chr7:91707050 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.7989AAG[1] (p.Arg2664del) microsatellite Long QT syndrome 11 [RCV002476711]|Long QT syndrome [RCV001373574] Chr7:92080122..92080124 [GRCh38]
Chr7:91709436..91709438 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5684G>A (p.Cys1895Tyr) single nucleotide variant Cardiovascular phenotype [RCV002350570]|Long QT syndrome [RCV001313763]|not specified [RCV004699299] Chr7:92061342 [GRCh38]
Chr7:91690656 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7114A>G (p.Met2372Val) single nucleotide variant Cardiovascular phenotype [RCV002368167]|Long QT syndrome 11 [RCV002493841]|Long QT syndrome [RCV001360875] Chr7:92079247 [GRCh38]
Chr7:91708561 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.10818G>T (p.Lys3606Asn) single nucleotide variant Cardiovascular phenotype [RCV002420842]|Long QT syndrome 11 [RCV002476705]|Long QT syndrome [RCV001373024] Chr7:92099791 [GRCh38]
Chr7:91729105 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11071C>A (p.Pro3691Thr) single nucleotide variant Long QT syndrome [RCV001362185] Chr7:92101030 [GRCh38]
Chr7:91730344 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3715G>T (p.Asp1239Tyr) single nucleotide variant Long QT syndrome [RCV001341823] Chr7:92016231 [GRCh38]
Chr7:91645545 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6259A>G (p.Ile2087Val) single nucleotide variant Cardiovascular phenotype [RCV004629608]|Long QT syndrome [RCV001364001] Chr7:92066475 [GRCh38]
Chr7:91695789 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1826C>A (p.Ala609Asp) single nucleotide variant Cardiovascular phenotype [RCV002412016]|Long QT syndrome [RCV001316357] Chr7:92001743 [GRCh38]
Chr7:91631057 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3495C>G (p.His1165Gln) single nucleotide variant Long QT syndrome [RCV001318489] Chr7:92012605 [GRCh38]
Chr7:91641919 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8798A>C (p.Glu2933Ala) single nucleotide variant Long QT syndrome [RCV001323832] Chr7:92084906 [GRCh38]
Chr7:91714220 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3907G>C (p.Glu1303Gln) single nucleotide variant Long QT syndrome [RCV001364747] Chr7:92022307 [GRCh38]
Chr7:91651621 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8782C>T (p.Arg2928Ter) single nucleotide variant Cardiovascular phenotype [RCV002375353]|Long QT syndrome [RCV001299123]|not provided [RCV002223294] Chr7:92084890 [GRCh38]
Chr7:91714204 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11261T>C (p.Val3754Ala) single nucleotide variant Long QT syndrome [RCV001322868] Chr7:92102757 [GRCh38]
Chr7:91732071 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11301G>A (p.Ser3767=) single nucleotide variant Long QT syndrome [RCV001362837] Chr7:92102797 [GRCh38]
Chr7:91732111 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.11491T>C (p.Tyr3831His) single nucleotide variant Cardiovascular phenotype [RCV003169837]|Long QT syndrome 11 [RCV002499740]|Long QT syndrome [RCV001364883] Chr7:92107367 [GRCh38]
Chr7:91736681 [GRCh37]
Chr7:7q21.2		 uncertain significance
NC_000007.13:g.(?_91570394)_(92085896_?)dup duplication Long QT syndrome [RCV001295951] Chr7:91570394..92085896 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6241G>C (p.Asp2081His) single nucleotide variant Long QT syndrome [RCV001316531] Chr7:92066457 [GRCh38]
Chr7:91695771 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8843G>A (p.Arg2948Lys) single nucleotide variant Long QT syndrome [RCV001345830] Chr7:92085505 [GRCh38]
Chr7:91714819 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7675A>C (p.Ile2559Leu) single nucleotide variant Cardiovascular phenotype [RCV002402872]|Long QT syndrome [RCV001309727]|not provided [RCV002261334] Chr7:92079808 [GRCh38]
Chr7:91709122 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.4598G>A (p.Ser1533Asn) single nucleotide variant Cardiovascular phenotype [RCV002341667]|Long QT syndrome 11 [RCV002504502]|Long QT syndrome [RCV001323050] Chr7:92038678 [GRCh38]
Chr7:91667992 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.5108del (p.Lys1703fs) deletion Long QT syndrome [RCV001280934] Chr7:92042714 [GRCh38]
Chr7:91672028 [GRCh37]
Chr7:7q21.2		 likely pathogenic
NM_005751.5(AKAP9):c.1471A>C (p.Met491Leu) single nucleotide variant Long QT syndrome [RCV001338058] Chr7:92001388 [GRCh38]
Chr7:91630702 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11323A>G (p.Ile3775Val) single nucleotide variant Cardiovascular phenotype [RCV002322280]|Long QT syndrome [RCV001340963] Chr7:92102819 [GRCh38]
Chr7:91732133 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4638_4641del (p.Thr1547fs) deletion Long QT syndrome 11 [RCV002493843]|Long QT syndrome [RCV001361343] Chr7:92038716..92038719 [GRCh38]
Chr7:91668030..91668033 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6476C>T (p.Ala2159Val) single nucleotide variant Cardiovascular phenotype [RCV004036803]|Long QT syndrome [RCV001361407] Chr7:92070175 [GRCh38]
Chr7:91699489 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6113T>C (p.Ile2038Thr) single nucleotide variant Cardiovascular phenotype [RCV003169640]|Long QT syndrome [RCV001342572] Chr7:92065366 [GRCh38]
Chr7:91694680 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1642A>G (p.Arg548Gly) single nucleotide variant Long QT syndrome [RCV001324334] Chr7:92001559 [GRCh38]
Chr7:91630873 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5203C>T (p.Leu1735Phe) single nucleotide variant Long QT syndrome [RCV001361570] Chr7:92045048 [GRCh38]
Chr7:91674362 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7816T>G (p.Leu2606Val) single nucleotide variant Long QT syndrome [RCV001345217] Chr7:92079949 [GRCh38]
Chr7:91709263 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3757C>G (p.Gln1253Glu) single nucleotide variant Long QT syndrome [RCV001347494] Chr7:92017022 [GRCh38]
Chr7:91646336 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4331T>C (p.Val1444Ala) single nucleotide variant Cardiovascular phenotype [RCV002329298]|Long QT syndrome 11 [RCV002493713]|Long QT syndrome [RCV001327827] Chr7:92031597 [GRCh38]
Chr7:91660911 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4130_4138del (p.Glu1377_Thr1379del) deletion Cardiovascular phenotype [RCV003294249]|Long QT syndrome [RCV001308953] Chr7:92022990..92022998 [GRCh38]
Chr7:91652304..91652312 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.7565T>G (p.Ile2522Arg) single nucleotide variant Cardiovascular phenotype [RCV003382541]|Long QT syndrome [RCV001342895] Chr7:92079698 [GRCh38]
Chr7:91709012 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.4945G>A (p.Val1649Ile) single nucleotide variant Cardiovascular phenotype [RCV002341664]|Long QT syndrome [RCV001322422] Chr7:92042073 [GRCh38]
Chr7:91671387 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.211C>G (p.Gln71Glu) single nucleotide variant Cardiovascular phenotype [RCV003382524]|Long QT syndrome 11 [RCV002493690]|Long QT syndrome [RCV001323443] Chr7:91973873 [GRCh38]
Chr7:91603187 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4328A>T (p.Glu1443Val) single nucleotide variant Cardiovascular phenotype [RCV002327631]|Long QT syndrome 11 [RCV002493548]|Long QT syndrome [RCV001294859] Chr7:92031594 [GRCh38]
Chr7:91660908 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.752T>G (p.Leu251Arg) single nucleotide variant Cardiovascular phenotype [RCV002393694]|Long QT syndrome [RCV001294868] Chr7:91995622 [GRCh38]
Chr7:91624936 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5947A>G (p.Met1983Val) single nucleotide variant Long QT syndrome [RCV001340135] Chr7:92062456 [GRCh38]
Chr7:91691770 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2948_2952del (p.Leu983fs) deletion Long QT syndrome [RCV001323514] Chr7:92002865..92002869 [GRCh38]
Chr7:91632179..91632183 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6507+6G>T single nucleotide variant Long QT syndrome [RCV001347905] Chr7:92070212 [GRCh38]
Chr7:91699526 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3381T>G (p.His1127Gln) single nucleotide variant Cardiovascular phenotype [RCV004037552]|Long QT syndrome 11 [RCV002488181]|Long QT syndrome [RCV001373067]|not provided [RCV003481099] Chr7:92012491 [GRCh38]
Chr7:91641805 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7588C>A (p.Gln2530Lys) single nucleotide variant Long QT syndrome [RCV001326016] Chr7:92079721 [GRCh38]
Chr7:91709035 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11596C>G (p.Gln3866Glu) single nucleotide variant Long QT syndrome [RCV001339334] Chr7:92108543 [GRCh38]
Chr7:91737857 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7454C>A (p.Ser2485Tyr) single nucleotide variant Cardiovascular phenotype [RCV002384422]|Long QT syndrome [RCV001322551] Chr7:92079587 [GRCh38]
Chr7:91708901 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4751A>C (p.Glu1584Ala) single nucleotide variant Long QT syndrome [RCV001313694] Chr7:92040732 [GRCh38]
Chr7:91670046 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9140C>T (p.Thr3047Met) single nucleotide variant Cardiovascular phenotype [RCV002377489]|Long QT syndrome [RCV001350110] Chr7:92086343 [GRCh38]
Chr7:91715657 [GRCh37]
Chr7:7q21.2		 uncertain significance
GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327) copy number gain Isolated Pierre-Robin syndrome [RCV001352649] Chr7:87477185..100333327 [GRCh37]
Chr7:7q21.12-22.1		 pathogenic
NM_005751.5(AKAP9):c.5968G>T (p.Val1990Phe) single nucleotide variant Cardiovascular phenotype [RCV002357179]|Long QT syndrome [RCV001339519] Chr7:92062477 [GRCh38]
Chr7:91691791 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1261C>T (p.Arg421Ter) single nucleotide variant Long QT syndrome [RCV001322680] Chr7:92001178 [GRCh38]
Chr7:91630492 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1456G>C (p.Asp486His) single nucleotide variant Cardiovascular phenotype [RCV003382565]|Long QT syndrome [RCV001373382] Chr7:92001373 [GRCh38]
Chr7:91630687 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4142C>T (p.Pro1381Leu) single nucleotide variant Cardiovascular phenotype [RCV003294331]|Long QT syndrome [RCV001339598] Chr7:92023003 [GRCh38]
Chr7:91652317 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2024G>A (p.Ser675Asn) single nucleotide variant Long QT syndrome [RCV001315429] Chr7:92001941 [GRCh38]
Chr7:91631255 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8019+5G>C single nucleotide variant Cardiovascular phenotype [RCV002420777]|Long QT syndrome [RCV001358853] Chr7:92080157 [GRCh38]
Chr7:91709471 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10706G>C (p.Gly3569Ala) single nucleotide variant Cardiovascular phenotype [RCV004035162]|Long QT syndrome [RCV001325434] Chr7:92098207 [GRCh38]
Chr7:91727521 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9017A>C (p.Glu3006Ala) single nucleotide variant Long QT syndrome [RCV001371025] Chr7:92085679 [GRCh38]
Chr7:91714993 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8626C>A (p.Gln2876Lys) single nucleotide variant Long QT syndrome [RCV001304985] Chr7:92083635 [GRCh38]
Chr7:91712949 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7087T>C (p.Leu2363=) single nucleotide variant Long QT syndrome [RCV001395473] Chr7:92079220 [GRCh38]
Chr7:91708534 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.920T>C (p.Val307Ala) single nucleotide variant Long QT syndrome [RCV001371418] Chr7:91995790 [GRCh38]
Chr7:91625104 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10349G>A (p.Arg3450Gln) single nucleotide variant Cardiovascular phenotype [RCV002395779]|Long QT syndrome [RCV001351210] Chr7:92097308 [GRCh38]
Chr7:91726622 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10019C>T (p.Pro3340Leu) single nucleotide variant Long QT syndrome 11 [RCV002476572]|Long QT syndrome [RCV001340657] Chr7:92096978 [GRCh38]
Chr7:91726292 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3961C>A (p.His1321Asn) single nucleotide variant Long QT syndrome [RCV001367003] Chr7:92022822 [GRCh38]
Chr7:91652136 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2084T>C (p.Leu695Ser) single nucleotide variant Long QT syndrome [RCV001300184] Chr7:92002001 [GRCh38]
Chr7:91631315 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3265C>T (p.Pro1089Ser) single nucleotide variant Long QT syndrome [RCV001341055] Chr7:92003182 [GRCh38]
Chr7:91632496 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9182T>C (p.Leu3061Pro) single nucleotide variant Cardiovascular phenotype [RCV004036999]|Long QT syndrome 11 [RCV002476675]|Long QT syndrome [RCV001367224] Chr7:92086385 [GRCh38]
Chr7:91715699 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7054C>T (p.Leu2352Phe) single nucleotide variant Long QT syndrome [RCV001360604] Chr7:92079187 [GRCh38]
Chr7:91708501 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2575G>A (p.Val859Ile) single nucleotide variant Cardiovascular phenotype [RCV002432002]|Long QT syndrome [RCV002547610]|not provided [RCV001355453] Chr7:92002492 [GRCh38]
Chr7:91631806 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9109G>T (p.Glu3037Ter) single nucleotide variant Long QT syndrome [RCV001338898] Chr7:92086312 [GRCh38]
Chr7:91715626 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1446A>G (p.Thr482=) single nucleotide variant Cardiovascular phenotype [RCV002395938]|Long QT syndrome [RCV001413566] Chr7:92001363 [GRCh38]
Chr7:91630677 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2604T>C (p.Tyr868=) single nucleotide variant Cardiovascular phenotype [RCV003298710]|Long QT syndrome [RCV001421407] Chr7:92002521 [GRCh38]
Chr7:91631835 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5073C>T (p.Asn1691=) single nucleotide variant Long QT syndrome [RCV001413001] Chr7:92042682 [GRCh38]
Chr7:91671996 [GRCh37]
Chr7:7q21.2		 likely benign
NC_000007.13:g.(?_91737798)_(91739483_?)del deletion Long QT syndrome [RCV001339087] Chr7:91737798..91739483 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2585_2586del (p.Gln862fs) deletion Long QT syndrome [RCV001365763] Chr7:92002502..92002503 [GRCh38]
Chr7:91631816..91631817 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10494G>T (p.Leu3498Phe) single nucleotide variant Long QT syndrome [RCV001314221] Chr7:92097681 [GRCh38]
Chr7:91726995 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10547G>A (p.Arg3516Lys) single nucleotide variant Cardiovascular phenotype [RCV004629550]|Long QT syndrome 11 [RCV002504464]|Long QT syndrome [RCV001305112] Chr7:92097734 [GRCh38]
Chr7:91727048 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3047_3050del (p.Val1016fs) deletion Long QT syndrome [RCV001295668] Chr7:92002961..92002964 [GRCh38]
Chr7:91632275..91632278 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2165A>G (p.Asn722Ser) single nucleotide variant Long QT syndrome [RCV001339800] Chr7:92002082 [GRCh38]
Chr7:91631396 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5767G>A (p.Val1923Ile) single nucleotide variant not provided [RCV001508216] Chr7:92062276 [GRCh38]
Chr7:91691590 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5358A>G (p.Glu1786=) single nucleotide variant AKAP9-related disorder [RCV003948446]|Cardiovascular phenotype [RCV002343668]|Long QT syndrome [RCV001495252] Chr7:92045203 [GRCh38]
Chr7:91674517 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.399A>G (p.Leu133=) single nucleotide variant Long QT syndrome [RCV001468298] Chr7:91992205 [GRCh38]
Chr7:91621519 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3953-5C>T single nucleotide variant Long QT syndrome [RCV001481839] Chr7:92022809 [GRCh38]
Chr7:91652123 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8892C>G (p.Pro2964=) single nucleotide variant Cardiovascular phenotype [RCV004631717]|Long QT syndrome [RCV001473664] Chr7:92085554 [GRCh38]
Chr7:91714868 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4431A>G (p.Ala1477=) single nucleotide variant Long QT syndrome [RCV001475376] Chr7:92038511 [GRCh38]
Chr7:91667825 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8613G>A (p.Leu2871=) single nucleotide variant Long QT syndrome [RCV001438975] Chr7:92083622 [GRCh38]
Chr7:91712936 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6141A>G (p.Glu2047=) single nucleotide variant Cardiovascular phenotype [RCV002359095]|Long QT syndrome [RCV001488313] Chr7:92065394 [GRCh38]
Chr7:91694708 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9291G>A (p.Leu3097=) single nucleotide variant Long QT syndrome [RCV001475429] Chr7:92089462 [GRCh38]
Chr7:91718776 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3645T>C (p.Thr1215=) single nucleotide variant Cardiovascular phenotype [RCV002456838]|Long QT syndrome [RCV001479940] Chr7:92016161 [GRCh38]
Chr7:91645475 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.429T>C (p.Asp143=) single nucleotide variant Long QT syndrome [RCV001486513] Chr7:91992908 [GRCh38]
Chr7:91622222 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2728G>C (p.Val910Leu) single nucleotide variant Cardiovascular phenotype [RCV004037177]|Long QT syndrome [RCV001477233] Chr7:92002645 [GRCh38]
Chr7:91631959 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11196T>C (p.Cys3732=) single nucleotide variant Cardiovascular phenotype [RCV002439149]|Long QT syndrome [RCV001481168] Chr7:92102692 [GRCh38]
Chr7:91732006 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6123A>G (p.Glu2041=) single nucleotide variant Long QT syndrome [RCV001470404] Chr7:92065376 [GRCh38]
Chr7:91694690 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5766C>T (p.Gly1922=) single nucleotide variant Cardiovascular phenotype [RCV002358906]|Long QT syndrome [RCV001406377] Chr7:92062275 [GRCh38]
Chr7:91691589 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1635G>A (p.Gln545=) single nucleotide variant Long QT syndrome [RCV001498633] Chr7:92001552 [GRCh38]
Chr7:91630866 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6018A>G (p.Leu2006=) single nucleotide variant Cardiovascular phenotype [RCV002359137]|Long QT syndrome [RCV001506576] Chr7:92065271 [GRCh38]
Chr7:91694585 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4693-7A>G single nucleotide variant Long QT syndrome [RCV001469196] Chr7:92040667 [GRCh38]
Chr7:91669981 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5223A>G (p.Thr1741=) single nucleotide variant Cardiovascular phenotype [RCV002342065]|Long QT syndrome [RCV001472780] Chr7:92045068 [GRCh38]
Chr7:91674382 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4005dup (p.Leu1336fs) duplication not provided [RCV001539083] Chr7:92022863..92022864 [GRCh38]
Chr7:91652177..91652178 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.10378C>T (p.Leu3460=) single nucleotide variant Cardiovascular phenotype [RCV003284326]|Long QT syndrome [RCV001435794] Chr7:92097337 [GRCh38]
Chr7:91726651 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6129A>G (p.Glu2043=) single nucleotide variant Long QT syndrome [RCV001409887] Chr7:92065382 [GRCh38]
Chr7:91694696 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3612+116G>A single nucleotide variant not provided [RCV001540827] Chr7:92014444 [GRCh38]
Chr7:91643758 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4998G>A (p.Leu1666=) single nucleotide variant Long QT syndrome [RCV001397823] Chr7:92042126 [GRCh38]
Chr7:91671440 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4971A>G (p.Leu1657=) single nucleotide variant Long QT syndrome [RCV001449328] Chr7:92042099 [GRCh38]
Chr7:91671413 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9468T>G (p.Ser3156=) single nucleotide variant Cardiovascular phenotype [RCV002449198]|Long QT syndrome [RCV001444314] Chr7:92093206 [GRCh38]
Chr7:91722520 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.8711-8T>C single nucleotide variant Long QT syndrome [RCV001444340] Chr7:92084811 [GRCh38]
Chr7:91714125 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.931-10T>G single nucleotide variant Long QT syndrome [RCV001446933] Chr7:92000838 [GRCh38]
Chr7:91630152 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10962A>G (p.Val3654=) single nucleotide variant Long QT syndrome [RCV001417318] Chr7:92100921 [GRCh38]
Chr7:91730235 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9108A>G (p.Glu3036=) single nucleotide variant Long QT syndrome [RCV001418935] Chr7:92086311 [GRCh38]
Chr7:91715625 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5532G>C (p.Leu1844=) single nucleotide variant Cardiovascular phenotype [RCV002350865]|Long QT syndrome [RCV001437626] Chr7:92052889 [GRCh38]
Chr7:91682203 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8781C>G (p.Gly2927=) single nucleotide variant Long QT syndrome [RCV001410690] Chr7:92084889 [GRCh38]
Chr7:91714203 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6681A>G (p.Gln2227=) single nucleotide variant AKAP9-related disorder [RCV003953750]|Cardiovascular phenotype [RCV002368285]|Long QT syndrome 11 [RCV002504684]|Long QT syndrome [RCV001410778] Chr7:92076923 [GRCh38]
Chr7:91706237 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9358+163A>G single nucleotide variant not provided [RCV001534902] Chr7:92089692 [GRCh38]
Chr7:91719006 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1851A>C (p.Ser617=) single nucleotide variant Cardiovascular phenotype [RCV003298749]|Long QT syndrome [RCV001435035] Chr7:92001768 [GRCh38]
Chr7:91631082 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11235G>C (p.Gly3745=) single nucleotide variant Cardiovascular phenotype [RCV002439005]|Long QT syndrome [RCV001431755] Chr7:92102731 [GRCh38]
Chr7:91732045 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1857A>G (p.Glu619=) single nucleotide variant Long QT syndrome [RCV001427272] Chr7:92001774 [GRCh38]
Chr7:91631088 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3838-169T>A single nucleotide variant not provided [RCV001535381] Chr7:92022069 [GRCh38]
Chr7:91651383 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.1044A>C (p.Leu348=) single nucleotide variant Long QT syndrome 11 [RCV002499870]|Long QT syndrome [RCV001406328] Chr7:92000961 [GRCh38]
Chr7:91630275 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5661A>G (p.Gln1887=) single nucleotide variant Cardiovascular phenotype [RCV002350879]|Long QT syndrome [RCV001442990] Chr7:92061319 [GRCh38]
Chr7:91690633 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.78G>A (p.Gln26=) single nucleotide variant Long QT syndrome [RCV001409039] Chr7:91973740 [GRCh38]
Chr7:91603054 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6165C>T (p.Asn2055=) single nucleotide variant Cardiovascular phenotype [RCV002358922]|Long QT syndrome [RCV001411658] Chr7:92065418 [GRCh38]
Chr7:91694732 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6612+235A>G single nucleotide variant not provided [RCV001648551] Chr7:92071244 [GRCh38]
Chr7:91700558 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.6765+168A>T single nucleotide variant not provided [RCV001655286] Chr7:92077175 [GRCh38]
Chr7:91706489 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.6918G>A (p.Gln2306=) single nucleotide variant Long QT syndrome [RCV001519394] Chr7:92077848 [GRCh38]
Chr7:91707162 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.5764+163TA[19] microsatellite not provided [RCV001690722] Chr7:92061584..92061585 [GRCh38]
Chr7:91690898..91690899 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.-230G>T single nucleotide variant not provided [RCV001695059] Chr7:91940870 [GRCh38]
Chr7:91570184 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.3612+51T>C single nucleotide variant not provided [RCV001619589] Chr7:92014379 [GRCh38]
Chr7:91643693 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.6177A>G (p.Glu2059=) single nucleotide variant Cardiovascular phenotype [RCV002359121]|Long QT syndrome [RCV001499679]|not specified [RCV003120617] Chr7:92065430 [GRCh38]
Chr7:91694744 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9669T>C (p.Ala3223=) single nucleotide variant Cardiovascular phenotype [RCV002384837]|Long QT syndrome [RCV001500004] Chr7:92095113 [GRCh38]
Chr7:91724427 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6282T>G (p.Leu2094=) single nucleotide variant Long QT syndrome [RCV001476107] Chr7:92066498 [GRCh38]
Chr7:91695812 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11457G>C (p.Gly3819=) single nucleotide variant Cardiovascular phenotype [RCV002456860]|Long QT syndrome [RCV001486940] Chr7:92107333 [GRCh38]
Chr7:91736647 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5870A>G (p.Asn1957Ser) single nucleotide variant Cardiovascular phenotype [RCV002359152]|Long QT syndrome [RCV001882570]|not specified [RCV001526965] Chr7:92062379 [GRCh38]
Chr7:91691693 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.8358G>A (p.Leu2786=) single nucleotide variant Long QT syndrome [RCV001499952] Chr7:92083367 [GRCh38]
Chr7:91712681 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11098-145TAC[12] microsatellite not provided [RCV001538590] Chr7:92102449..92102454 [GRCh38]
Chr7:91731763..91731768 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.9358+11T>C single nucleotide variant Long QT syndrome 11 [RCV002253963]|Long QT syndrome [RCV002077134]|not provided [RCV001702978]|not specified [RCV001699695] Chr7:92089540 [GRCh38]
Chr7:91718854 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.5764+163TA[20] microsatellite not provided [RCV001687393] Chr7:92061584..92061585 [GRCh38]
Chr7:91690898..91690899 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.5049G>A (p.Thr1683=) single nucleotide variant Cardiovascular phenotype [RCV002342015]|Long QT syndrome [RCV001455704] Chr7:92042177 [GRCh38]
Chr7:91671491 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3752-10T>C single nucleotide variant Long QT syndrome [RCV001487033] Chr7:92017007 [GRCh38]
Chr7:91646321 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3729A>G (p.Gln1243=) single nucleotide variant Long QT syndrome [RCV001459890] Chr7:92016245 [GRCh38]
Chr7:91645559 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10887T>C (p.Gly3629=) single nucleotide variant Cardiovascular phenotype [RCV002432370]|Long QT syndrome 11 [RCV002253819]|Long QT syndrome [RCV001488321]|not provided [RCV001647300] Chr7:92099860 [GRCh38]
Chr7:91729174 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.738G>A (p.Gln246=) single nucleotide variant Long QT syndrome [RCV001460566] Chr7:91995608 [GRCh38]
Chr7:91624922 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8646+49A>T single nucleotide variant Long QT syndrome 11 [RCV002253974]|not provided [RCV001716847] Chr7:92083704 [GRCh38]
Chr7:91713018 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.49-3200A>C single nucleotide variant not provided [RCV001690282] Chr7:91970511 [GRCh38]
Chr7:91599825 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.261A>G (p.Leu87=) single nucleotide variant Cardiovascular phenotype [RCV002456870]|Long QT syndrome 11 [RCV002488290]|Long QT syndrome [RCV001490017] Chr7:91973923 [GRCh38]
Chr7:91603237 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11682G>A (p.Gln3894=) single nucleotide variant Cardiovascular phenotype [RCV002329525]|Long QT syndrome 11 [RCV002495653]|Long QT syndrome [RCV001458157] Chr7:92108629 [GRCh38]
Chr7:91737943 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7026G>A (p.Lys2342=) single nucleotide variant Cardiovascular phenotype [RCV002377830]|Long QT syndrome [RCV001482717] Chr7:92079159 [GRCh38]
Chr7:91708473 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4815G>A (p.Thr1605=) single nucleotide variant Cardiovascular phenotype [RCV002329549]|Long QT syndrome [RCV001467118] Chr7:92040796 [GRCh38]
Chr7:91670110 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4695T>C (p.Ile1565=) single nucleotide variant Long QT syndrome [RCV001468969] Chr7:92040676 [GRCh38]
Chr7:91669990 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4339-6C>A single nucleotide variant Long QT syndrome [RCV001470198] Chr7:92038413 [GRCh38]
Chr7:91667727 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9807A>G (p.Leu3269=) single nucleotide variant Long QT syndrome [RCV001487483] Chr7:92096766 [GRCh38]
Chr7:91726080 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.441A>G (p.Glu147=) single nucleotide variant Long QT syndrome [RCV001405916] Chr7:91992920 [GRCh38]
Chr7:91622234 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3192A>G (p.Glu1064=) single nucleotide variant Cardiovascular phenotype [RCV002322512]|Long QT syndrome [RCV001465697] Chr7:92003109 [GRCh38]
Chr7:91632423 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5475T>C (p.Leu1825=) single nucleotide variant Long QT syndrome [RCV001501939] Chr7:92052832 [GRCh38]
Chr7:91682146 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6766-4C>T single nucleotide variant Cardiovascular phenotype [RCV002368515]|Long QT syndrome [RCV001496638] Chr7:92077692 [GRCh38]
Chr7:91707006 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.4908A>G (p.Gln1636=) single nucleotide variant Cardiovascular phenotype [RCV002334545]|Long QT syndrome [RCV001499200]|not provided [RCV004706229] Chr7:92040889 [GRCh38]
Chr7:91670203 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1743C>G (p.Ser581=) single nucleotide variant Cardiovascular phenotype [RCV003382592]|Long QT syndrome [RCV001458994] Chr7:92001660 [GRCh38]
Chr7:91630974 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.231G>T (p.Val77=) single nucleotide variant Long QT syndrome [RCV001432550] Chr7:91973893 [GRCh38]
Chr7:91603207 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.930+9_930+12del deletion Long QT syndrome [RCV001423614] Chr7:91995806..91995809 [GRCh38]
Chr7:91625120..91625123 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4090G>C (p.Glu1364Gln) single nucleotide variant Cardiovascular phenotype [RCV002324116]|not provided [RCV001508215] Chr7:92022951 [GRCh38]
Chr7:91652265 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.873A>G (p.Lys291=) single nucleotide variant Long QT syndrome [RCV001428113] Chr7:91995743 [GRCh38]
Chr7:91625057 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4245+13del deletion Long QT syndrome [RCV001519897] Chr7:92030000 [GRCh38]
Chr7:91659314 [GRCh37]
Chr7:7q21.2		 benign
NC_000007.13:g.(91715729_91718698)_(91864237_91972337)del deletion Cerebral cavernous malformation [RCV001728075] Chr7:91718698..91864237 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_005751.5(AKAP9):c.54C>A (p.Ala18=) single nucleotide variant Cardiovascular phenotype [RCV002343806]|Long QT syndrome [RCV002539795]|not provided [RCV001730357]|not specified [RCV001730358] Chr7:91973716 [GRCh38]
Chr7:91603030 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.1397G>A (p.Arg466Gln) single nucleotide variant Long QT syndrome [RCV002539796]|not provided [RCV001730405] Chr7:92001314 [GRCh38]
Chr7:91630628 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.3709A>G (p.Asn1237Asp) single nucleotide variant not specified [RCV002271861] Chr7:92016225 [GRCh38]
Chr7:91645539 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7387C>A (p.Pro2463Thr) single nucleotide variant Cardiovascular phenotype [RCV004287520] Chr7:92079520 [GRCh38]
Chr7:91708834 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1361G>A (p.Arg454Lys) single nucleotide variant Long QT syndrome [RCV003318433] Chr7:92001278 [GRCh38]
Chr7:91630592 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9578+4_9578+5del microsatellite Long QT syndrome [RCV003318443] Chr7:92093317..92093318 [GRCh38]
Chr7:91722631..91722632 [GRCh37]
Chr7:7q21.2		 likely pathogenic|uncertain significance
NM_005751.5(AKAP9):c.352-1G>A single nucleotide variant not provided [RCV001760820] Chr7:91992157 [GRCh38]
Chr7:91621471 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4005_4006insACA (p.Lys1335_Leu1336insThr) insertion not provided [RCV001762834] Chr7:92022865..92022866 [GRCh38]
Chr7:91652179..91652180 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.7200G>A (p.Gln2400=) single nucleotide variant not specified [RCV001806798] Chr7:92079333 [GRCh38]
Chr7:91708647 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10643T>C (p.Ile3548Thr) single nucleotide variant Long QT syndrome 11 [RCV002491948]|Long QT syndrome [RCV001949782] Chr7:92098144 [GRCh38]
Chr7:91727458 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4999T>C (p.Ser1667Pro) single nucleotide variant Cardiovascular phenotype [RCV002337159]|Long QT syndrome [RCV002041296] Chr7:92042127 [GRCh38]
Chr7:91671441 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3864G>A (p.Met1288Ile) single nucleotide variant Long QT syndrome 11 [RCV002492147]|Long QT syndrome [RCV001968302] Chr7:92022264 [GRCh38]
Chr7:91651578 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7592T>C (p.Phe2531Ser) single nucleotide variant Long QT syndrome [RCV001874809] Chr7:92079725 [GRCh38]
Chr7:91709039 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9068G>A (p.Arg3023Gln) single nucleotide variant Long QT syndrome [RCV001896815] Chr7:92086271 [GRCh38]
Chr7:91715585 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1250A>G (p.Asp417Gly) single nucleotide variant Long QT syndrome [RCV001966098] Chr7:92001167 [GRCh38]
Chr7:91630481 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9376A>G (p.Ile3126Val) single nucleotide variant Cardiovascular phenotype [RCV002370459]|Long QT syndrome [RCV001910995] Chr7:92093114 [GRCh38]
Chr7:91722428 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3563T>C (p.Ile1188Thr) single nucleotide variant Long QT syndrome 11 [RCV002497895]|Long QT syndrome [RCV001983285] Chr7:92014279 [GRCh38]
Chr7:91643593 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3736A>G (p.Arg1246Gly) single nucleotide variant Cardiovascular phenotype [RCV002363178]|Long QT syndrome 11 [RCV002487864]|Long QT syndrome [RCV003318388]|not specified [RCV001824894] Chr7:92016252 [GRCh38]
Chr7:91645566 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.604C>G (p.Gln202Glu) single nucleotide variant Cardiovascular phenotype [RCV002352709]|Long QT syndrome 11 [RCV002497979]|Long QT syndrome [RCV001988730] Chr7:91994648 [GRCh38]
Chr7:91623962 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5752A>G (p.Ser1918Gly) single nucleotide variant Long QT syndrome 11 [RCV002482671]|Long QT syndrome [RCV001871495] Chr7:92061410 [GRCh38]
Chr7:91690724 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.32A>G (p.Glu11Gly) single nucleotide variant Long QT syndrome [RCV001947571] Chr7:91941131 [GRCh38]
Chr7:91570445 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1364A>G (p.Gln455Arg) single nucleotide variant Long QT syndrome [RCV001984968] Chr7:92001281 [GRCh38]
Chr7:91630595 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.464C>T (p.Thr155Ile) single nucleotide variant Long QT syndrome [RCV001873047] Chr7:91992943 [GRCh38]
Chr7:91622257 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1732G>A (p.Ala578Thr) single nucleotide variant Long QT syndrome [RCV001970630] Chr7:92001649 [GRCh38]
Chr7:91630963 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3128G>C (p.Gly1043Ala) single nucleotide variant Long QT syndrome [RCV001863555] Chr7:92003045 [GRCh38]
Chr7:91632359 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6805G>A (p.Asp2269Asn) single nucleotide variant Long QT syndrome [RCV001915225] Chr7:92077735 [GRCh38]
Chr7:91707049 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3424G>A (p.Ala1142Thr) single nucleotide variant Long QT syndrome [RCV001873886] Chr7:92012534 [GRCh38]
Chr7:91641848 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10796T>C (p.Ile3599Thr) single nucleotide variant Long QT syndrome [RCV001874890] Chr7:92099769 [GRCh38]
Chr7:91729083 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4552A>G (p.Ser1518Gly) single nucleotide variant Cardiovascular phenotype [RCV004046107]|Long QT syndrome 11 [RCV002492329]|Long QT syndrome [RCV002025958] Chr7:92038632 [GRCh38]
Chr7:91667946 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.67A>G (p.Arg23Gly) single nucleotide variant Long QT syndrome [RCV001964360] Chr7:91973729 [GRCh38]
Chr7:91603043 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8074G>A (p.Glu2692Lys) single nucleotide variant Cardiovascular phenotype [RCV002422906]|Long QT syndrome [RCV001894227] Chr7:92082576 [GRCh38]
Chr7:91711890 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4322AAG[2] (p.Glu1443del) microsatellite Long QT syndrome [RCV001970938] Chr7:92031586..92031588 [GRCh38]
Chr7:91660900..91660902 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6882T>G (p.Ile2294Met) single nucleotide variant Long QT syndrome [RCV001968108] Chr7:92077812 [GRCh38]
Chr7:91707126 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9970G>A (p.Ala3324Thr) single nucleotide variant Cardiovascular phenotype [RCV002386618]|Long QT syndrome [RCV001874225]|not provided [RCV002261398] Chr7:92096929 [GRCh38]
Chr7:91726243 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10373G>T (p.Arg3458Ile) single nucleotide variant Long QT syndrome [RCV001864206] Chr7:92097332 [GRCh38]
Chr7:91726646 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7811T>C (p.Leu2604Ser) single nucleotide variant not specified [RCV001844630] Chr7:92079944 [GRCh38]
Chr7:91709258 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1276A>G (p.Thr426Ala) single nucleotide variant Long QT syndrome [RCV002023537] Chr7:92001193 [GRCh38]
Chr7:91630507 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7090G>A (p.Ala2364Thr) single nucleotide variant Cardiovascular phenotype [RCV003382798]|Long QT syndrome [RCV002045401] Chr7:92079223 [GRCh38]
Chr7:91708537 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.394A>C (p.Asn132His) single nucleotide variant Cardiovascular phenotype [RCV002370538]|Long QT syndrome [RCV001926515] Chr7:91992200 [GRCh38]
Chr7:91621514 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11230G>C (p.Gly3744Arg) single nucleotide variant Cardiovascular phenotype [RCV003303431]|Long QT syndrome [RCV001949981] Chr7:92102726 [GRCh38]
Chr7:91732040 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5131_5132delinsTT (p.Asp1711Phe) indel Long QT syndrome [RCV001929702] Chr7:92042740..92042741 [GRCh38]
Chr7:91672054..91672055 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7905T>G (p.Asn2635Lys) single nucleotide variant Long QT syndrome [RCV002045248] Chr7:92080038 [GRCh38]
Chr7:91709352 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2425A>T (p.Ile809Phe) single nucleotide variant Cardiovascular phenotype [RCV002449510]|Long QT syndrome [RCV001874777] Chr7:92002342 [GRCh38]
Chr7:91631656 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9173T>C (p.Val3058Ala) single nucleotide variant AKAP9-related disorder [RCV003407862]|Cardiovascular phenotype [RCV002370405]|Long QT syndrome [RCV001947179] Chr7:92086376 [GRCh38]
Chr7:91715690 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3164C>A (p.Ser1055Tyr) single nucleotide variant Cardiovascular phenotype [RCV002324335]|Long QT syndrome [RCV001914294] Chr7:92003081 [GRCh38]
Chr7:91632395 [GRCh37]
Chr7:7q21.2		 benign|uncertain significance
NM_005751.5(AKAP9):c.11696C>T (p.Thr3899Ile) single nucleotide variant Cardiovascular phenotype [RCV002331513]|Long QT syndrome [RCV001987862] Chr7:92110131 [GRCh38]
Chr7:91739445 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.3358C>G (p.Leu1120Val) single nucleotide variant Long QT syndrome [RCV002045258] Chr7:92012468 [GRCh38]
Chr7:91641782 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.29T>C (p.Leu10Pro) single nucleotide variant Long QT syndrome [RCV002039706] Chr7:91941128 [GRCh38]
Chr7:91570442 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7147A>C (p.Ser2383Arg) single nucleotide variant Cardiovascular phenotype [RCV004045210]|Long QT syndrome [RCV002003909] Chr7:92079280 [GRCh38]
Chr7:91708594 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.10738T>A (p.Ser3580Thr) single nucleotide variant Cardiovascular phenotype [RCV002423047]|Long QT syndrome 11 [RCV002507039]|Long QT syndrome [RCV001948033] Chr7:92099711 [GRCh38]
Chr7:91729025 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7519A>G (p.Thr2507Ala) single nucleotide variant Cardiovascular phenotype [RCV002388777]|Long QT syndrome [RCV001891253]|not provided [RCV002261406] Chr7:92079652 [GRCh38]
Chr7:91708966 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8314A>G (p.Ile2772Val) single nucleotide variant Cardiovascular phenotype [RCV002425207]|Long QT syndrome 11 [RCV002478315]|Long QT syndrome [RCV001911584] Chr7:92083323 [GRCh38]
Chr7:91712637 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.1034C>T (p.Thr345Ile) single nucleotide variant Cardiovascular phenotype [RCV002388957]|Long QT syndrome 11 [RCV002497913]|Long QT syndrome [RCV001969001] Chr7:92000951 [GRCh38]
Chr7:91630265 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5761G>C (p.Glu1921Gln) single nucleotide variant Long QT syndrome [RCV002002968] Chr7:92061419 [GRCh38]
Chr7:91690733 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.576G>C (p.Gln192His) single nucleotide variant Long QT syndrome [RCV001909046] Chr7:91993055 [GRCh38]
Chr7:91622369 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5653C>G (p.Gln1885Glu) single nucleotide variant Cardiovascular phenotype [RCV003170427]|Long QT syndrome [RCV001983536] Chr7:92061311 [GRCh38]
Chr7:91690625 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9202A>G (p.Ile3068Val) single nucleotide variant Cardiovascular phenotype [RCV004045318]|Long QT syndrome [RCV001983650] Chr7:92086405 [GRCh38]
Chr7:91715719 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6517C>G (p.Arg2173Gly) single nucleotide variant Long QT syndrome [RCV001894216] Chr7:92070914 [GRCh38]
Chr7:91700228 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5978-1_5978del deletion Long QT syndrome [RCV001969090]|not provided [RCV004694060] Chr7:92065229..92065230 [GRCh38]
Chr7:91694543..91694544 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7575G>A (p.Met2525Ile) single nucleotide variant Long QT syndrome [RCV001910339] Chr7:92079708 [GRCh38]
Chr7:91709022 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11644C>T (p.Arg3882Trp) single nucleotide variant Long QT syndrome [RCV001947958] Chr7:92108591 [GRCh38]
Chr7:91737905 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7031A>G (p.Asn2344Ser) single nucleotide variant Cardiovascular phenotype [RCV002370708]|Long QT syndrome [RCV002040712] Chr7:92079164 [GRCh38]
Chr7:91708478 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7906G>A (p.Val2636Ile) single nucleotide variant Long QT syndrome [RCV002005682] Chr7:92080039 [GRCh38]
Chr7:91709353 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4550T>C (p.Leu1517Pro) single nucleotide variant Cardiovascular phenotype [RCV004042943]|Long QT syndrome 11 [RCV002484669]|Long QT syndrome [RCV002002010] Chr7:92038630 [GRCh38]
Chr7:91667944 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11419G>A (p.Ala3807Thr) single nucleotide variant Long QT syndrome [RCV001890984] Chr7:92107295 [GRCh38]
Chr7:91736609 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10940T>C (p.Ile3647Thr) single nucleotide variant Cardiovascular phenotype [RCV002442994]|Long QT syndrome [RCV002005535] Chr7:92100899 [GRCh38]
Chr7:91730213 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4184A>C (p.Asp1395Ala) single nucleotide variant Cardiovascular phenotype [RCV002331514]|Long QT syndrome 11 [RCV002479564]|Long QT syndrome [RCV002002201] Chr7:92029930 [GRCh38]
Chr7:91659244 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9137G>A (p.Arg3046Gln) single nucleotide variant Cardiovascular phenotype [RCV002370532]|Long QT syndrome [RCV001945571] Chr7:92086340 [GRCh38]
Chr7:91715654 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.10481A>G (p.Asn3494Ser) single nucleotide variant Cardiovascular phenotype [RCV003382727]|Long QT syndrome [RCV001910704] Chr7:92097668 [GRCh38]
Chr7:91726982 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137) copy number gain not specified [RCV002053701] Chr7:77821356..93340137 [GRCh37]
Chr7:7q21.11-21.3		 pathogenic
NM_005751.5(AKAP9):c.11425A>G (p.Lys3809Glu) single nucleotide variant Long QT syndrome [RCV002021605] Chr7:92107301 [GRCh38]
Chr7:91736615 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5581A>G (p.Ile1861Val) single nucleotide variant not specified [RCV001825091] Chr7:92052938 [GRCh38]
Chr7:91682252 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3394C>T (p.Arg1132Cys) single nucleotide variant Cardiovascular phenotype [RCV002458655]|Long QT syndrome [RCV001863343] Chr7:92012504 [GRCh38]
Chr7:91641818 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3871G>C (p.Glu1291Gln) single nucleotide variant Long QT syndrome [RCV001911979] Chr7:92022271 [GRCh38]
Chr7:91651585 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1535T>C (p.Leu512Pro) single nucleotide variant Cardiovascular phenotype [RCV004039150]|Long QT syndrome [RCV001891219] Chr7:92001452 [GRCh38]
Chr7:91630766 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5612C>G (p.Ala1871Gly) single nucleotide variant Cardiovascular phenotype [RCV002344012]|Long QT syndrome [RCV001909912] Chr7:92061270 [GRCh38]
Chr7:91690584 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4800A>T (p.Glu1600Asp) single nucleotide variant Long QT syndrome [RCV001928215] Chr7:92040781 [GRCh38]
Chr7:91670095 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9814G>A (p.Glu3272Lys) single nucleotide variant Long QT syndrome 11 [RCV002503598]|Long QT syndrome [RCV001947955] Chr7:92096773 [GRCh38]
Chr7:91726087 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3544A>G (p.Lys1182Glu) single nucleotide variant Cardiovascular phenotype [RCV002334917]|Long QT syndrome [RCV001967275] Chr7:92014260 [GRCh38]
Chr7:91643574 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9329G>A (p.Arg3110Lys) single nucleotide variant Cardiovascular phenotype [RCV002370452]|Long QT syndrome [RCV001908337] Chr7:92089500 [GRCh38]
Chr7:91718814 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.733-19G>A single nucleotide variant Long QT syndrome [RCV001986747] Chr7:91995584 [GRCh38]
Chr7:91624898 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.7783G>T (p.Asp2595Tyr) single nucleotide variant Cardiovascular phenotype [RCV002407108]|Long QT syndrome [RCV001948614]|not provided [RCV002261426] Chr7:92079916 [GRCh38]
Chr7:91709230 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2554T>C (p.Phe852Leu) single nucleotide variant Long QT syndrome [RCV001911072] Chr7:92002471 [GRCh38]
Chr7:91631785 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.39C>T (p.Gly13=) single nucleotide variant Cardiovascular phenotype [RCV002359413]|Long QT syndrome [RCV001928329] Chr7:91941138 [GRCh38]
Chr7:91570452 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.2851G>C (p.Glu951Gln) single nucleotide variant Long QT syndrome [RCV001948964] Chr7:92002768 [GRCh38]
Chr7:91632082 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10653G>C (p.Gln3551His) single nucleotide variant Long QT syndrome [RCV001895467] Chr7:92098154 [GRCh38]
Chr7:91727468 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9709C>T (p.Arg3237Trp) single nucleotide variant AKAP9-related disorder [RCV003416533]|Long QT syndrome [RCV001892481] Chr7:92095153 [GRCh38]
Chr7:91724467 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6195G>A (p.Met2065Ile) single nucleotide variant Cardiovascular phenotype [RCV002361207]|Long QT syndrome 11 [RCV002482800]|Long QT syndrome [RCV001909094] Chr7:92065448 [GRCh38]
Chr7:91694762 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11494C>T (p.Arg3832Cys) single nucleotide variant Cardiovascular phenotype [RCV002458651]|Long QT syndrome 11 [RCV002482445]|Long QT syndrome [RCV002039795] Chr7:92107370 [GRCh38]
Chr7:91736684 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4731T>C (p.Ser1577=) single nucleotide variant Long QT syndrome [RCV002084545] Chr7:92040712 [GRCh38]
Chr7:91670026 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.965A>C (p.Glu322Ala) single nucleotide variant Long QT syndrome [RCV001893367] Chr7:92000882 [GRCh38]
Chr7:91630196 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.185G>C (p.Cys62Ser) single nucleotide variant Long QT syndrome [RCV001894580] Chr7:91973847 [GRCh38]
Chr7:91603161 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10061A>G (p.Glu3354Gly) single nucleotide variant Cardiovascular phenotype [RCV002407206]|Long QT syndrome 11 [RCV002497905]|Long QT syndrome [RCV001966091] Chr7:92097020 [GRCh38]
Chr7:91726334 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3952+14A>G single nucleotide variant Long QT syndrome 11 [RCV002253989]|Long QT syndrome [RCV002077331]|not specified [RCV001844629] Chr7:92022366 [GRCh38]
Chr7:91651680 [GRCh37]
Chr7:7q21.2		 benign|likely benign
NM_005751.5(AKAP9):c.9379C>T (p.Gln3127Ter) single nucleotide variant Long QT syndrome [RCV002041506] Chr7:92093117 [GRCh38]
Chr7:91722431 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3349C>T (p.Arg1117Cys) single nucleotide variant Cardiovascular phenotype [RCV002324484]|Long QT syndrome [RCV002043258] Chr7:92012459 [GRCh38]
Chr7:91641773 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11249C>T (p.Thr3750Met) single nucleotide variant Long QT syndrome [RCV002023504] Chr7:92102745 [GRCh38]
Chr7:91732059 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7573A>G (p.Met2525Val) single nucleotide variant Long QT syndrome [RCV002003976] Chr7:92079706 [GRCh38]
Chr7:91709020 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8601A>T (p.Glu2867Asp) single nucleotide variant Long QT syndrome [RCV002040527] Chr7:92083610 [GRCh38]
Chr7:91712924 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9910T>A (p.Ser3304Thr) single nucleotide variant Cardiovascular phenotype [RCV004631882]|Long QT syndrome 11 [RCV002479621]|Long QT syndrome [RCV001966604] Chr7:92096869 [GRCh38]
Chr7:91726183 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11213C>T (p.Ala3738Val) single nucleotide variant Cardiovascular phenotype [RCV002441178]|Long QT syndrome 11 [RCV002486609]|Long QT syndrome [RCV002019845] Chr7:92102709 [GRCh38]
Chr7:91732023 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7213G>A (p.Ala2405Thr) single nucleotide variant Cardiovascular phenotype [RCV002370525]|Long QT syndrome 11 [RCV002507043]|Long QT syndrome [RCV001930946] Chr7:92079346 [GRCh38]
Chr7:91708660 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.7885G>C (p.Val2629Leu) single nucleotide variant Long QT syndrome [RCV001993599] Chr7:92080018 [GRCh38]
Chr7:91709332 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3346C>T (p.Gln1116Ter) single nucleotide variant Long QT syndrome [RCV002030763] Chr7:92012456 [GRCh38]
Chr7:91641770 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6029G>A (p.Cys2010Tyr) single nucleotide variant Long QT syndrome [RCV002000353] Chr7:92065282 [GRCh38]
Chr7:91694596 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8404G>T (p.Ala2802Ser) single nucleotide variant Cardiovascular phenotype [RCV003382755]|Long QT syndrome [RCV001997627] Chr7:92083413 [GRCh38]
Chr7:91712727 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4023A>T (p.Gln1341His) single nucleotide variant AKAP9-related disorder [RCV004746521]|Cardiovascular phenotype [RCV002370553]|Long QT syndrome [RCV001940872] Chr7:92022884 [GRCh38]
Chr7:91652198 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6114A>G (p.Ile2038Met) single nucleotide variant Long QT syndrome [RCV001883780] Chr7:92065367 [GRCh38]
Chr7:91694681 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4277del (p.Thr1426fs) deletion Long QT syndrome [RCV001976829] Chr7:92031543 [GRCh38]
Chr7:91660857 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9349C>A (p.Pro3117Thr) single nucleotide variant Cardiovascular phenotype [RCV002370627]|Long QT syndrome 11 [RCV002484856]|Long QT syndrome [RCV001972983] Chr7:92089520 [GRCh38]
Chr7:91718834 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.405+16C>G single nucleotide variant Long QT syndrome [RCV001906333] Chr7:91992227 [GRCh38]
Chr7:91621541 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3099A>G (p.Gly1033=) single nucleotide variant Cardiovascular phenotype [RCV004045474]|Long QT syndrome [RCV001991460] Chr7:92003016 [GRCh38]
Chr7:91632330 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.3955G>A (p.Val1319Ile) single nucleotide variant Cardiovascular phenotype [RCV002352645]|Long QT syndrome [RCV001997602] Chr7:92022816 [GRCh38]
Chr7:91652130 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3448C>T (p.Leu1150Phe) single nucleotide variant Cardiovascular phenotype [RCV003167153]|Long QT syndrome 11 [RCV002490273]|Long QT syndrome [RCV001923357]|Primary dilated cardiomyopathy [RCV003319230] Chr7:92012558 [GRCh38]
Chr7:91641872 [GRCh37]
Chr7:7q21.2		 benign|uncertain significance
NM_005751.5(AKAP9):c.6728G>A (p.Arg2243His) single nucleotide variant Long QT syndrome [RCV002018845] Chr7:92076970 [GRCh38]
Chr7:91706284 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6961A>G (p.Asn2321Asp) single nucleotide variant Long QT syndrome [RCV001962101] Chr7:92079094 [GRCh38]
Chr7:91708408 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11144T>C (p.Leu3715Pro) single nucleotide variant Long QT syndrome [RCV001905990] Chr7:92102640 [GRCh38]
Chr7:91731954 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9004C>G (p.Gln3002Glu) single nucleotide variant Long QT syndrome [RCV002037389] Chr7:92085666 [GRCh38]
Chr7:91714980 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10713+4A>G single nucleotide variant Cardiovascular phenotype [RCV002423122]|Long QT syndrome 11 [RCV002484764]|Long QT syndrome [RCV001979761] Chr7:92098218 [GRCh38]
Chr7:91727532 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1357A>G (p.Ile453Val) single nucleotide variant Long QT syndrome [RCV001886971] Chr7:92001274 [GRCh38]
Chr7:91630588 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10859T>C (p.Ile3620Thr) single nucleotide variant Long QT syndrome [RCV001902885] Chr7:92099832 [GRCh38]
Chr7:91729146 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.392C>T (p.Thr131Ile) single nucleotide variant Cardiovascular phenotype [RCV002370484]|Long QT syndrome [RCV001906342] Chr7:91992198 [GRCh38]
Chr7:91621512 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.1469T>C (p.Leu490Ser) single nucleotide variant Long QT syndrome [RCV002000674] Chr7:92001386 [GRCh38]
Chr7:91630700 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11309G>C (p.Arg3770Thr) single nucleotide variant Long QT syndrome [RCV002038752] Chr7:92102805 [GRCh38]
Chr7:91732119 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1643G>A (p.Arg548Lys) single nucleotide variant Long QT syndrome [RCV001887123] Chr7:92001560 [GRCh38]
Chr7:91630874 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3857A>G (p.Asp1286Gly) single nucleotide variant Long QT syndrome [RCV002036961] Chr7:92022257 [GRCh38]
Chr7:91651571 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2809G>T (p.Asp937Tyr) single nucleotide variant Long QT syndrome [RCV001982014] Chr7:92002726 [GRCh38]
Chr7:91632040 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8112A>C (p.Glu2704Asp) single nucleotide variant Long QT syndrome 11 [RCV002506925]|Long QT syndrome [RCV001877329] Chr7:92082614 [GRCh38]
Chr7:91711928 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5777_5778delinsAT (p.Gly1926Asp) indel Long QT syndrome [RCV001900505] Chr7:92062286..92062287 [GRCh38]
Chr7:91691600..91691601 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4952A>G (p.Glu1651Gly) single nucleotide variant Long QT syndrome [RCV001933668] Chr7:92042080 [GRCh38]
Chr7:91671394 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9374_9378del (p.Asn3125fs) microsatellite Long QT syndrome [RCV001920430] Chr7:92093106..92093110 [GRCh38]
Chr7:91722420..91722424 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.546G>T (p.Arg182Ser) single nucleotide variant Cardiovascular phenotype [RCV004040601]|Long QT syndrome [RCV001900430] Chr7:91993025 [GRCh38]
Chr7:91622339 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2911G>A (p.Gly971Ser) single nucleotide variant Long QT syndrome [RCV002029449] Chr7:92002828 [GRCh38]
Chr7:91632142 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4282A>G (p.Ile1428Val) single nucleotide variant Cardiovascular phenotype [RCV002331425]|Long QT syndrome 11 [RCV002490204]|Long QT syndrome [RCV001935082] Chr7:92031548 [GRCh38]
Chr7:91660862 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8174A>G (p.Asn2725Ser) single nucleotide variant Long QT syndrome [RCV002050984] Chr7:92083183 [GRCh38]
Chr7:91712497 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8431G>A (p.Glu2811Lys) single nucleotide variant Cardiovascular phenotype [RCV002449554]|Long QT syndrome [RCV001935105] Chr7:92083440 [GRCh38]
Chr7:91712754 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7291T>C (p.Phe2431Leu) single nucleotide variant Cardiovascular phenotype [RCV002386921]|Long QT syndrome [RCV002027101] Chr7:92079424 [GRCh38]
Chr7:91708738 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7048G>C (p.Glu2350Gln) single nucleotide variant Long QT syndrome [RCV001867433] Chr7:92079181 [GRCh38]
Chr7:91708495 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7084G>A (p.Glu2362Lys) single nucleotide variant Cardiovascular phenotype [RCV003382729]|Long QT syndrome [RCV001919307] Chr7:92079217 [GRCh38]
Chr7:91708531 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10332G>T (p.Gln3444His) single nucleotide variant Cardiovascular phenotype [RCV003303474]|Long QT syndrome [RCV001955828] Chr7:92097291 [GRCh38]
Chr7:91726605 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11291G>A (p.Arg3764Lys) single nucleotide variant Cardiovascular phenotype [RCV002324370]|Long QT syndrome 11 [RCV002484685]|Long QT syndrome [RCV001957732] Chr7:92102787 [GRCh38]
Chr7:91732101 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8966A>G (p.Asn2989Ser) single nucleotide variant Long QT syndrome [RCV001975874] Chr7:92085628 [GRCh38]
Chr7:91714942 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10196C>A (p.Thr3399Asn) single nucleotide variant Long QT syndrome 11 [RCV003136344]|Long QT syndrome [RCV001957781] Chr7:92097155 [GRCh38]
Chr7:91726469 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8283C>T (p.Ser2761=) single nucleotide variant Cardiovascular phenotype [RCV002425234]|Long QT syndrome 11 [RCV002484447]|Long QT syndrome [RCV001930269] Chr7:92083292 [GRCh38]
Chr7:91712606 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.10360C>T (p.Arg3454Ter) single nucleotide variant Cardiovascular phenotype [RCV004042736]|Long QT syndrome [RCV001918263] Chr7:92097319 [GRCh38]
Chr7:91726633 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.970A>G (p.Ile324Val) single nucleotide variant Cardiovascular phenotype [RCV002372806]|Long QT syndrome [RCV002026161] Chr7:92000887 [GRCh38]
Chr7:91630201 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8833-3C>T single nucleotide variant Cardiovascular phenotype [RCV003167111]|Long QT syndrome [RCV001918429] Chr7:92085492 [GRCh38]
Chr7:91714806 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11342T>C (p.Leu3781Ser) single nucleotide variant Cardiovascular phenotype [RCV002324219]|Long QT syndrome 11 [RCV002482405]|Long QT syndrome [RCV002030158] Chr7:92105689 [GRCh38]
Chr7:91735003 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.821A>G (p.Gln274Arg) single nucleotide variant Cardiovascular phenotype [RCV003303588]|Long QT syndrome [RCV001989131] Chr7:91995691 [GRCh38]
Chr7:91625005 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.375G>A (p.Met125Ile) single nucleotide variant Long QT syndrome [RCV001897293] Chr7:91992181 [GRCh38]
Chr7:91621495 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9425G>T (p.Ser3142Ile) single nucleotide variant Long QT syndrome 11 [RCV002503549]|Long QT syndrome [RCV001901402] Chr7:92093163 [GRCh38]
Chr7:91722477 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7726A>G (p.Thr2576Ala) single nucleotide variant Long QT syndrome [RCV002027745] Chr7:92079859 [GRCh38]
Chr7:91709173 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10007G>A (p.Arg3336Gln) single nucleotide variant Cardiovascular phenotype [RCV002458978]|Long QT syndrome [RCV002029025] Chr7:92096966 [GRCh38]
Chr7:91726280 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2363A>C (p.Glu788Ala) single nucleotide variant Cardiovascular phenotype [RCV002449548]|Long QT syndrome 11 [RCV002490168]|Long QT syndrome [RCV001901286] Chr7:92002280 [GRCh38]
Chr7:91631594 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.461C>T (p.Pro154Leu) single nucleotide variant Cardiovascular phenotype [RCV002335030]|Long QT syndrome [RCV002012568]|not provided [RCV004694100] Chr7:91992940 [GRCh38]
Chr7:91622254 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.6343G>A (p.Ala2115Thr) single nucleotide variant Cardiovascular phenotype [RCV002361366]|Long QT syndrome [RCV001991996] Chr7:92070042 [GRCh38]
Chr7:91699356 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.8499A>T (p.Glu2833Asp) single nucleotide variant Long QT syndrome [RCV002030518] Chr7:92083508 [GRCh38]
Chr7:91712822 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6946-6del deletion Long QT syndrome [RCV001954193] Chr7:92079072 [GRCh38]
Chr7:91708386 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5048C>G (p.Thr1683Arg) single nucleotide variant Long QT syndrome [RCV001906266] Chr7:92042176 [GRCh38]
Chr7:91671490 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4963del (p.Val1655fs) deletion Long QT syndrome [RCV002049227] Chr7:92042089 [GRCh38]
Chr7:91671403 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9886T>A (p.Leu3296Ile) single nucleotide variant Cardiovascular phenotype [RCV002386760]|Long QT syndrome [RCV001982325] Chr7:92096845 [GRCh38]
Chr7:91726159 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7973G>A (p.Arg2658Lys) single nucleotide variant Long QT syndrome [RCV001931083] Chr7:92080106 [GRCh38]
Chr7:91709420 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10272A>T (p.Gln3424His) single nucleotide variant Cardiovascular phenotype [RCV002386901]|Long QT syndrome [RCV002011699] Chr7:92097231 [GRCh38]
Chr7:91726545 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.956C>T (p.Ser319Leu) single nucleotide variant Long QT syndrome [RCV001867295] Chr7:92000873 [GRCh38]
Chr7:91630187 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5698C>G (p.Arg1900Gly) single nucleotide variant Cardiovascular phenotype [RCV002343993]|Long QT syndrome [RCV001939705] Chr7:92061356 [GRCh38]
Chr7:91690670 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3379C>G (p.His1127Asp) single nucleotide variant Long QT syndrome [RCV002036155] Chr7:92012489 [GRCh38]
Chr7:91641803 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3659G>A (p.Cys1220Tyr) single nucleotide variant Long QT syndrome [RCV001974178] Chr7:92016175 [GRCh38]
Chr7:91645489 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3934A>C (p.Thr1312Pro) single nucleotide variant Cardiovascular phenotype [RCV002359390]|Long QT syndrome 11 [RCV002490210]|Long QT syndrome [RCV001925162] Chr7:92022334 [GRCh38]
Chr7:91651648 [GRCh37]
Chr7:7q21.2		 benign|uncertain significance
NM_005751.5(AKAP9):c.5056C>G (p.Gln1686Glu) single nucleotide variant Long QT syndrome [RCV001957840] Chr7:92042184 [GRCh38]
Chr7:91671498 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2368A>G (p.Met790Val) single nucleotide variant Cardiovascular phenotype [RCV002442897]|Long QT syndrome 11 [RCV002507617]|Long QT syndrome [RCV001959837] Chr7:92002285 [GRCh38]
Chr7:91631599 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11183G>C (p.Gly3728Ala) single nucleotide variant Long QT syndrome [RCV001906478] Chr7:92102679 [GRCh38]
Chr7:91731993 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1213C>G (p.Gln405Glu) single nucleotide variant Long QT syndrome [RCV001898209] Chr7:92001130 [GRCh38]
Chr7:91630444 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10904G>A (p.Arg3635Lys) single nucleotide variant Long QT syndrome [RCV002031078] Chr7:92100863 [GRCh38]
Chr7:91730177 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3391G>A (p.Val1131Ile) single nucleotide variant Long QT syndrome [RCV001935509] Chr7:92012501 [GRCh38]
Chr7:91641815 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6294T>C (p.Pro2098=) single nucleotide variant Long QT syndrome [RCV002016525] Chr7:92066510 [GRCh38]
Chr7:91695824 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6296G>A (p.Arg2099Gln) single nucleotide variant Cardiovascular phenotype [RCV002361120]|Long QT syndrome [RCV001905329] Chr7:92066512 [GRCh38]
Chr7:91695826 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.11189A>C (p.Gln3730Pro) single nucleotide variant Long QT syndrome [RCV002047242] Chr7:92102685 [GRCh38]
Chr7:91731999 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10315A>G (p.Ile3439Val) single nucleotide variant Cardiovascular phenotype [RCV002386893]|Long QT syndrome 11 [RCV002492337]|Long QT syndrome [RCV002035769] Chr7:92097274 [GRCh38]
Chr7:91726588 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.11179G>C (p.Gly3727Arg) single nucleotide variant Long QT syndrome [RCV001925330] Chr7:92102675 [GRCh38]
Chr7:91731989 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6727C>T (p.Arg2243Cys) single nucleotide variant Long QT syndrome [RCV001884076] Chr7:92076969 [GRCh38]
Chr7:91706283 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4225A>G (p.Asn1409Asp) single nucleotide variant Long QT syndrome [RCV002018474] Chr7:92029971 [GRCh38]
Chr7:91659285 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7856A>G (p.His2619Arg) single nucleotide variant Long QT syndrome [RCV001875275] Chr7:92079989 [GRCh38]
Chr7:91709303 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5180C>T (p.Ala1727Val) single nucleotide variant Cardiovascular phenotype [RCV004043885]|Long QT syndrome [RCV002012225]|not provided [RCV003223743] Chr7:92045025 [GRCh38]
Chr7:91674339 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9958C>T (p.Arg3320Trp) single nucleotide variant Long QT syndrome [RCV002009656] Chr7:92096917 [GRCh38]
Chr7:91726231 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10144A>G (p.Lys3382Glu) single nucleotide variant Long QT syndrome [RCV002026259] Chr7:92097103 [GRCh38]
Chr7:91726417 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6316C>T (p.His2106Tyr) single nucleotide variant Long QT syndrome [RCV002018561] Chr7:92066532 [GRCh38]
Chr7:91695846 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3493C>A (p.His1165Asn) single nucleotide variant Cardiovascular phenotype [RCV003382695]|Long QT syndrome [RCV001906110] Chr7:92012603 [GRCh38]
Chr7:91641917 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.1706A>G (p.Glu569Gly) single nucleotide variant Long QT syndrome [RCV001907262] Chr7:92001623 [GRCh38]
Chr7:91630937 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1828G>A (p.Val610Met) single nucleotide variant Long QT syndrome [RCV001930483] Chr7:92001745 [GRCh38]
Chr7:91631059 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7363A>G (p.Ile2455Val) single nucleotide variant Long QT syndrome 11 [RCV002507008]|Long QT syndrome [RCV001901313] Chr7:92079496 [GRCh38]
Chr7:91708810 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7292T>C (p.Phe2431Ser) single nucleotide variant Long QT syndrome [RCV001979177] Chr7:92079425 [GRCh38]
Chr7:91708739 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3744A>C (p.Glu1248Asp) single nucleotide variant Cardiovascular phenotype [RCV004041631]|Long QT syndrome 11 [RCV002503526]|Long QT syndrome [RCV001906166] Chr7:92016260 [GRCh38]
Chr7:91645574 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3685A>G (p.Asn1229Asp) single nucleotide variant Cardiovascular phenotype [RCV004043316]|Long QT syndrome 11 [RCV002503576]|Long QT syndrome [RCV001918736] Chr7:92016201 [GRCh38]
Chr7:91645515 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.286G>A (p.Glu96Lys) single nucleotide variant Long QT syndrome [RCV002011339] Chr7:91973948 [GRCh38]
Chr7:91603262 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1945C>T (p.Arg649Ter) single nucleotide variant Long QT syndrome [RCV001937746] Chr7:92001862 [GRCh38]
Chr7:91631176 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3379C>T (p.His1127Tyr) single nucleotide variant Long QT syndrome [RCV001931999] Chr7:92012489 [GRCh38]
Chr7:91641803 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5840G>A (p.Arg1947His) single nucleotide variant Cardiovascular phenotype [RCV002359399]|Long QT syndrome [RCV001903413] Chr7:92062349 [GRCh38]
Chr7:91691663 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11272C>T (p.Arg3758Cys) single nucleotide variant Cardiovascular phenotype [RCV002449568]|Long QT syndrome [RCV001937776] Chr7:92102768 [GRCh38]
Chr7:91732082 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5779T>C (p.Tyr1927His) single nucleotide variant Cardiovascular phenotype [RCV004043870]|Long QT syndrome [RCV001997124] Chr7:92062288 [GRCh38]
Chr7:91691602 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.4414G>A (p.Ala1472Thr) single nucleotide variant Cardiovascular phenotype [RCV004631826]|Long QT syndrome [RCV001938413] Chr7:92038494 [GRCh38]
Chr7:91667808 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.5660AAG[1] (p.Glu1888del) microsatellite Long QT syndrome [RCV001885710] Chr7:92061318..92061320 [GRCh38]
Chr7:91690632..91690634 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2801T>G (p.Val934Gly) single nucleotide variant Long QT syndrome [RCV002034439] Chr7:92002718 [GRCh38]
Chr7:91632032 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7814C>T (p.Thr2605Ile) single nucleotide variant Long QT syndrome [RCV002017254] Chr7:92079947 [GRCh38]
Chr7:91709261 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9729+1G>T single nucleotide variant Long QT syndrome [RCV001961383] Chr7:92095174 [GRCh38]
Chr7:91724488 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9789G>A (p.Leu3263=) single nucleotide variant Long QT syndrome [RCV001997359] Chr7:92096748 [GRCh38]
Chr7:91726062 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.8755C>T (p.Gln2919Ter) single nucleotide variant Long QT syndrome [RCV001997979] Chr7:92084863 [GRCh38]
Chr7:91714177 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2773G>A (p.Ala925Thr) single nucleotide variant Long QT syndrome [RCV001906660] Chr7:92002690 [GRCh38]
Chr7:91632004 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4610A>T (p.Asp1537Val) single nucleotide variant Long QT syndrome [RCV001997452] Chr7:92038690 [GRCh38]
Chr7:91668004 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.733-12_733-9del microsatellite Long QT syndrome [RCV001886186] Chr7:91995586..91995589 [GRCh38]
Chr7:91624900..91624903 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6125A>G (p.Gln2042Arg) single nucleotide variant Long QT syndrome [RCV002018164] Chr7:92065378 [GRCh38]
Chr7:91694692 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6507+6G>A single nucleotide variant Long QT syndrome [RCV001951861] Chr7:92070212 [GRCh38]
Chr7:91699526 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7034G>C (p.Arg2345Thr) single nucleotide variant Long QT syndrome [RCV001998951] Chr7:92079167 [GRCh38]
Chr7:91708481 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.406-4T>A single nucleotide variant Long QT syndrome [RCV001886065] Chr7:91992881 [GRCh38]
Chr7:91622195 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11687-2A>G single nucleotide variant Cardiovascular phenotype [RCV002329778]|Long QT syndrome [RCV002029786] Chr7:92110120 [GRCh38]
Chr7:91739434 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.793C>G (p.Gln265Glu) single nucleotide variant Long QT syndrome 11 [RCV002482522]|Long QT syndrome [RCV001934937] Chr7:91995663 [GRCh38]
Chr7:91624977 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6679C>T (p.Gln2227Ter) single nucleotide variant Long QT syndrome [RCV001866356] Chr7:92076921 [GRCh38]
Chr7:91706235 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7843del (p.Val2615fs) deletion Long QT syndrome [RCV002031738] Chr7:92079975 [GRCh38]
Chr7:91709289 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4070C>T (p.Thr1357Ile) single nucleotide variant Long QT syndrome 11 [RCV002489976]|Long QT syndrome [RCV001878217] Chr7:92022931 [GRCh38]
Chr7:91652245 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10015T>A (p.Leu3339Met) single nucleotide variant Long QT syndrome [RCV002049689] Chr7:92096974 [GRCh38]
Chr7:91726288 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11366C>T (p.Thr3789Ile) single nucleotide variant Long QT syndrome [RCV001953119] Chr7:92105713 [GRCh38]
Chr7:91735027 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.845A>G (p.His282Arg) single nucleotide variant Cardiovascular phenotype [RCV004043321]|Long QT syndrome [RCV001920492] Chr7:91995715 [GRCh38]
Chr7:91625029 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5638C>T (p.Arg1880Cys) single nucleotide variant Long QT syndrome 11 [RCV002491876]|Long QT syndrome [RCV001930728] Chr7:92061296 [GRCh38]
Chr7:91690610 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.732+4_732+7del microsatellite Long QT syndrome [RCV001979397] Chr7:91994775..91994778 [GRCh38]
Chr7:91624089..91624092 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8981T>C (p.Leu2994Pro) single nucleotide variant Long QT syndrome [RCV002011831] Chr7:92085643 [GRCh38]
Chr7:91714957 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9969C>A (p.His3323Gln) single nucleotide variant Long QT syndrome 11 [RCV002497922]|Long QT syndrome [RCV001976016] Chr7:92096928 [GRCh38]
Chr7:91726242 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4348T>A (p.Ser1450Thr) single nucleotide variant Long QT syndrome 11 [RCV002479601]|Long QT syndrome [RCV001975298] Chr7:92038428 [GRCh38]
Chr7:91667742 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.453A>G (p.Gln151=) single nucleotide variant Long QT syndrome [RCV002090500] Chr7:91992932 [GRCh38]
Chr7:91622246 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1269A>G (p.Glu423=) single nucleotide variant Cardiovascular phenotype [RCV003161535]|Long QT syndrome [RCV002144922] Chr7:92001186 [GRCh38]
Chr7:91630500 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8710+13A>C single nucleotide variant Long QT syndrome [RCV002166137] Chr7:92084716 [GRCh38]
Chr7:91714030 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1870_1871del (p.Arg624fs) microsatellite Cardiovascular phenotype [RCV004047207]|Long QT syndrome 11 [RCV002487015]|not provided [RCV002224307] Chr7:92001783..92001784 [GRCh38]
Chr7:91631097..91631098 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8710+18T>C single nucleotide variant Long QT syndrome [RCV002192420] Chr7:92084721 [GRCh38]
Chr7:91714035 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9040C>T (p.Gln3014Ter) single nucleotide variant not provided [RCV002224390] Chr7:92086243 [GRCh38]
Chr7:91715557 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.577-14C>G single nucleotide variant Long QT syndrome [RCV002107661] Chr7:91994607 [GRCh38]
Chr7:91623921 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10272A>G (p.Gln3424=) single nucleotide variant Cardiovascular phenotype [RCV004616984]|Long QT syndrome [RCV002205126] Chr7:92097231 [GRCh38]
Chr7:91726545 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7955del (p.Gly2652fs) deletion not provided [RCV002224479] Chr7:92080086 [GRCh38]
Chr7:91709400 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10335G>A (p.Lys3445=) single nucleotide variant Cardiovascular phenotype [RCV002391314]|Long QT syndrome [RCV002125917] Chr7:92097294 [GRCh38]
Chr7:91726608 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10896+20C>T single nucleotide variant Long QT syndrome [RCV002129220] Chr7:92099889 [GRCh38]
Chr7:91729203 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2325A>G (p.Ala775=) single nucleotide variant Long QT syndrome [RCV002130697] Chr7:92002242 [GRCh38]
Chr7:91631556 [GRCh37]
Chr7:7q21.2		 likely benign
NC_000007.14:g.91973711_91973719del deletion Long QT syndrome [RCV003533147]|not provided [RCV002223478] Chr7:91973709..91973717 [GRCh38]
Chr7:91603023..91603031 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9165A>G (p.Thr3055=) single nucleotide variant Long QT syndrome [RCV002106727] Chr7:92086368 [GRCh38]
Chr7:91715682 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9730-16G>A single nucleotide variant Long QT syndrome [RCV002129461] Chr7:92096673 [GRCh38]
Chr7:91725987 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.963A>G (p.Lys321=) single nucleotide variant Long QT syndrome [RCV002148088] Chr7:92000880 [GRCh38]
Chr7:91630194 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11037A>G (p.Glu3679=) single nucleotide variant Long QT syndrome [RCV002207056] Chr7:92100996 [GRCh38]
Chr7:91730310 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11098-17C>T single nucleotide variant Long QT syndrome [RCV002146905] Chr7:92102577 [GRCh38]
Chr7:91731891 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6613-10G>A single nucleotide variant Long QT syndrome [RCV002130279] Chr7:92076845 [GRCh38]
Chr7:91706159 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5601+17G>T single nucleotide variant Long QT syndrome [RCV002106131] Chr7:92052975 [GRCh38]
Chr7:91682289 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6756A>G (p.Lys2252=) single nucleotide variant Long QT syndrome [RCV002074514] Chr7:92076998 [GRCh38]
Chr7:91706312 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9359-5T>C single nucleotide variant Long QT syndrome [RCV002185116] Chr7:92093092 [GRCh38]
Chr7:91722406 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4692+14C>G single nucleotide variant Long QT syndrome [RCV002205009] Chr7:92038786 [GRCh38]
Chr7:91668100 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10801C>T (p.Gln3601Ter) single nucleotide variant not provided [RCV002224377] Chr7:92099774 [GRCh38]
Chr7:91729088 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4858C>T (p.Arg1620Ter) single nucleotide variant Long QT syndrome 11 [RCV002505885]|not provided [RCV002224425] Chr7:92040839 [GRCh38]
Chr7:91670153 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7777del (p.Arg2593fs) deletion not provided [RCV002223577] Chr7:92079909 [GRCh38]
Chr7:91709223 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.835del (p.Glu279fs) deletion Cardiovascular phenotype [RCV002434606]|not provided [RCV002224498] Chr7:91995705 [GRCh38]
Chr7:91625019 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4149-12A>C single nucleotide variant Long QT syndrome [RCV002206782] Chr7:92029883 [GRCh38]
Chr7:91659197 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3426T>C (p.Ala1142=) single nucleotide variant Long QT syndrome 11 [RCV003138090]|Long QT syndrome [RCV002125159] Chr7:92012536 [GRCh38]
Chr7:91641850 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.7422T>C (p.Leu2474=) single nucleotide variant Long QT syndrome [RCV002129266] Chr7:92079555 [GRCh38]
Chr7:91708869 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10872A>G (p.Arg3624=) single nucleotide variant Cardiovascular phenotype [RCV002427608]|Long QT syndrome [RCV002088298] Chr7:92099845 [GRCh38]
Chr7:91729159 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.352-12G>A single nucleotide variant Long QT syndrome [RCV002126424] Chr7:91992146 [GRCh38]
Chr7:91621460 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6916C>T (p.Gln2306Ter) single nucleotide variant Long QT syndrome 11 [RCV002496155]|not provided [RCV002224327] Chr7:92077846 [GRCh38]
Chr7:91707160 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8833-1G>A single nucleotide variant Cardiovascular phenotype [RCV002373050]|not provided [RCV002224368] Chr7:92085494 [GRCh38]
Chr7:91714808 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6210+20A>G single nucleotide variant Long QT syndrome [RCV002206943] Chr7:92065483 [GRCh38]
Chr7:91694797 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3751+16C>G single nucleotide variant Long QT syndrome [RCV002097734] Chr7:92016283 [GRCh38]
Chr7:91645597 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8646+7G>T single nucleotide variant Long QT syndrome [RCV002096172] Chr7:92083662 [GRCh38]
Chr7:91712976 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5568A>G (p.Lys1856=) single nucleotide variant Cardiovascular phenotype [RCV002346419]|Long QT syndrome [RCV002097746] Chr7:92052925 [GRCh38]
Chr7:91682239 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7122T>C (p.Ala2374=) single nucleotide variant Cardiovascular phenotype [RCV002372868]|Long QT syndrome [RCV002212653] Chr7:92079255 [GRCh38]
Chr7:91708569 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6762del (p.Phe2254fs) deletion not provided [RCV002224495] Chr7:92077002 [GRCh38]
Chr7:91706316 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9012A>G (p.Gln3004=) single nucleotide variant Long QT syndrome [RCV002211988] Chr7:92085674 [GRCh38]
Chr7:91714988 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1650A>C (p.Thr550=) single nucleotide variant Long QT syndrome [RCV002170791] Chr7:92001567 [GRCh38]
Chr7:91630881 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8832+17A>G single nucleotide variant Long QT syndrome [RCV002135177] Chr7:92084957 [GRCh38]
Chr7:91714271 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5523A>G (p.Glu1841=) single nucleotide variant Long QT syndrome [RCV002148297] Chr7:92052880 [GRCh38]
Chr7:91682194 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4098C>T (p.His1366=) single nucleotide variant Cardiovascular phenotype [RCV002324565]|Long QT syndrome [RCV002097368] Chr7:92022959 [GRCh38]
Chr7:91652273 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5058+17C>T single nucleotide variant Long QT syndrome [RCV002152703] Chr7:92042203 [GRCh38]
Chr7:91671517 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.339C>T (p.Asp113=) single nucleotide variant Cardiovascular phenotype [RCV003161625]|Long QT syndrome [RCV002153355] Chr7:91980321 [GRCh38]
Chr7:91609635 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.567A>G (p.Gly189=) single nucleotide variant Long QT syndrome [RCV002171834] Chr7:91993046 [GRCh38]
Chr7:91622360 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11142T>A (p.Ala3714=) single nucleotide variant Long QT syndrome [RCV002079456] Chr7:92102638 [GRCh38]
Chr7:91731952 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8181A>T (p.Thr2727=) single nucleotide variant Long QT syndrome [RCV002094427] Chr7:92083190 [GRCh38]
Chr7:91712504 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6612+8G>T single nucleotide variant Long QT syndrome [RCV002125744] Chr7:92071017 [GRCh38]
Chr7:91700331 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8778A>G (p.Glu2926=) single nucleotide variant Cardiovascular phenotype [RCV003161549]|Long QT syndrome [RCV002078734] Chr7:92084886 [GRCh38]
Chr7:91714200 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.577-18C>T single nucleotide variant Long QT syndrome [RCV002096436] Chr7:91994603 [GRCh38]
Chr7:91623917 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7281A>G (p.Thr2427=) single nucleotide variant Long QT syndrome [RCV002152694] Chr7:92079414 [GRCh38]
Chr7:91708728 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4647A>G (p.Ser1549=) single nucleotide variant Long QT syndrome [RCV002168736] Chr7:92038727 [GRCh38]
Chr7:91668041 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9214-7G>T single nucleotide variant Long QT syndrome [RCV002193706] Chr7:92089378 [GRCh38]
Chr7:91718692 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6906G>A (p.Thr2302=) single nucleotide variant Cardiovascular phenotype [RCV002363645]|Long QT syndrome [RCV002106046] Chr7:92077836 [GRCh38]
Chr7:91707150 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11097+17A>G single nucleotide variant Long QT syndrome [RCV002114747] Chr7:92101073 [GRCh38]
Chr7:91730387 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6237G>A (p.Glu2079=) single nucleotide variant Long QT syndrome [RCV002094450] Chr7:92066453 [GRCh38]
Chr7:91695767 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9214-11C>G single nucleotide variant Long QT syndrome [RCV002093095] Chr7:92089374 [GRCh38]
Chr7:91718688 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10245T>A (p.Leu3415=) single nucleotide variant Long QT syndrome [RCV002078178] Chr7:92097204 [GRCh38]
Chr7:91726518 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3952+2T>G single nucleotide variant Long QT syndrome 11 [RCV002481034]|not provided [RCV002224281] Chr7:92022354 [GRCh38]
Chr7:91651668 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10892dup (p.Asp3631fs) duplication not provided [RCV002224296] Chr7:92099864..92099865 [GRCh38]
Chr7:91729178..91729179 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6210+18G>T single nucleotide variant Long QT syndrome [RCV002149641] Chr7:92065481 [GRCh38]
Chr7:91694795 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9214-7G>A single nucleotide variant Long QT syndrome [RCV002113707] Chr7:92089378 [GRCh38]
Chr7:91718692 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11330+15G>A single nucleotide variant Long QT syndrome [RCV002197015] Chr7:92102841 [GRCh38]
Chr7:91732155 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10713+20del deletion Long QT syndrome [RCV002095079] Chr7:92098234 [GRCh38]
Chr7:91727548 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9600A>G (p.Thr3200=) single nucleotide variant Long QT syndrome [RCV002097240] Chr7:92095044 [GRCh38]
Chr7:91724358 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9025-19G>A single nucleotide variant Long QT syndrome [RCV002085413] Chr7:92086209 [GRCh38]
Chr7:91715523 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1134A>G (p.Leu378=) single nucleotide variant Cardiovascular phenotype [RCV002443102]|Long QT syndrome [RCV002172795] Chr7:92001051 [GRCh38]
Chr7:91630365 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4149-12A>G single nucleotide variant Long QT syndrome [RCV002138628] Chr7:92029883 [GRCh38]
Chr7:91659197 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4017A>G (p.Gln1339=) single nucleotide variant Cardiovascular phenotype [RCV004045817]|Long QT syndrome [RCV002103078] Chr7:92022878 [GRCh38]
Chr7:91652192 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3953-15C>T single nucleotide variant Long QT syndrome [RCV002197666] Chr7:92022799 [GRCh38]
Chr7:91652113 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.438T>C (p.Ser146=) single nucleotide variant Cardiovascular phenotype [RCV004045806]|Long QT syndrome [RCV002097849] Chr7:91992917 [GRCh38]
Chr7:91622231 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4923C>A (p.Ser1641=) single nucleotide variant Long QT syndrome [RCV002218253] Chr7:92042051 [GRCh38]
Chr7:91671365 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3953-15_3953-12del deletion Long QT syndrome [RCV002119474] Chr7:92022798..92022801 [GRCh38]
Chr7:91652112..91652115 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3975A>G (p.Leu1325=) single nucleotide variant Long QT syndrome [RCV002179582] Chr7:92022836 [GRCh38]
Chr7:91652150 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6027A>G (p.Gln2009=) single nucleotide variant Cardiovascular phenotype [RCV002352828]|Long QT syndrome [RCV002102466] Chr7:92065280 [GRCh38]
Chr7:91694594 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5369-8T>C single nucleotide variant Long QT syndrome [RCV002158540] Chr7:92052718 [GRCh38]
Chr7:91682032 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5978-13T>C single nucleotide variant Long QT syndrome [RCV002120293] Chr7:92065218 [GRCh38]
Chr7:91694532 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11687-16T>C single nucleotide variant Long QT syndrome [RCV002154982] Chr7:92110106 [GRCh38]
Chr7:91739420 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8355T>G (p.Thr2785=) single nucleotide variant Cardiovascular phenotype [RCV002434568]|Long QT syndrome [RCV002136404] Chr7:92083364 [GRCh38]
Chr7:91712678 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4764A>G (p.Glu1588=) single nucleotide variant Long QT syndrome [RCV002155362] Chr7:92040745 [GRCh38]
Chr7:91670059 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2259A>G (p.Glu753=) single nucleotide variant Long QT syndrome [RCV002180390] Chr7:92002176 [GRCh38]
Chr7:91631490 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9678A>G (p.Lys3226=) single nucleotide variant Long QT syndrome [RCV002204892] Chr7:92095122 [GRCh38]
Chr7:91724436 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.48+11C>T single nucleotide variant Long QT syndrome [RCV002164709] Chr7:91941158 [GRCh38]
Chr7:91570472 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9570G>A (p.Glu3190=) single nucleotide variant Long QT syndrome [RCV002177178] Chr7:92093308 [GRCh38]
Chr7:91722622 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5765-20C>G single nucleotide variant Long QT syndrome [RCV002100249] Chr7:92062254 [GRCh38]
Chr7:91691568 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10203A>G (p.Gly3401=) single nucleotide variant Long QT syndrome [RCV002218853] Chr7:92097162 [GRCh38]
Chr7:91726476 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10485C>T (p.Tyr3495=) single nucleotide variant Cardiovascular phenotype [RCV002398192]|Long QT syndrome [RCV002218856] Chr7:92097672 [GRCh38]
Chr7:91726986 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.576+15T>G single nucleotide variant Long QT syndrome [RCV002143127] Chr7:91993070 [GRCh38]
Chr7:91622384 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9358+17G>C single nucleotide variant Long QT syndrome [RCV002163521] Chr7:92089546 [GRCh38]
Chr7:91718860 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2181A>G (p.Glu727=) single nucleotide variant Long QT syndrome [RCV002123914] Chr7:92002098 [GRCh38]
Chr7:91631412 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8490G>A (p.Lys2830=) single nucleotide variant Cardiovascular phenotype [RCV004046553]|Long QT syndrome [RCV002139793] Chr7:92083499 [GRCh38]
Chr7:91712813 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7140A>G (p.Glu2380=) single nucleotide variant Long QT syndrome [RCV002139796] Chr7:92079273 [GRCh38]
Chr7:91708587 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4881A>G (p.Gln1627=) single nucleotide variant Cardiovascular phenotype [RCV002331729]|Long QT syndrome [RCV002101082] Chr7:92040862 [GRCh38]
Chr7:91670176 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4086G>A (p.Glu1362=) single nucleotide variant Long QT syndrome [RCV002204821] Chr7:92022947 [GRCh38]
Chr7:91652261 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5901G>A (p.Gln1967=) single nucleotide variant Cardiovascular phenotype [RCV002352823]|Long QT syndrome [RCV002217915] Chr7:92062410 [GRCh38]
Chr7:91691724 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10419C>T (p.Thr3473=) single nucleotide variant Long QT syndrome [RCV002162863] Chr7:92097606 [GRCh38]
Chr7:91726920 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3828A>G (p.Arg1276=) single nucleotide variant Cardiovascular phenotype [RCV002363686]|Long QT syndrome [RCV002155959] Chr7:92017093 [GRCh38]
Chr7:91646407 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8833-17del deletion Long QT syndrome [RCV002158109] Chr7:92085477 [GRCh38]
Chr7:91714791 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.909G>A (p.Glu303=) single nucleotide variant Cardiovascular phenotype [RCV003307990]|Long QT syndrome [RCV002104112] Chr7:91995779 [GRCh38]
Chr7:91625093 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11262G>A (p.Val3754=) single nucleotide variant Long QT syndrome [RCV002178592] Chr7:92102758 [GRCh38]
Chr7:91732072 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8013T>C (p.Val2671=) single nucleotide variant AKAP9-related disorder [RCV003978656]|Cardiovascular phenotype [RCV003307949]|Long QT syndrome [RCV002122484] Chr7:92080146 [GRCh38]
Chr7:91709460 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8833-15G>A single nucleotide variant Long QT syndrome [RCV002201429] Chr7:92085480 [GRCh38]
Chr7:91714794 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10179A>G (p.Thr3393=) single nucleotide variant Cardiovascular phenotype [RCV003307979]|Long QT syndrome [RCV002158070] Chr7:92097138 [GRCh38]
Chr7:91726452 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11490G>A (p.Thr3830=) single nucleotide variant Cardiovascular phenotype [RCV002454546]|Long QT syndrome [RCV002158403] Chr7:92107366 [GRCh38]
Chr7:91736680 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.576+18G>T single nucleotide variant Long QT syndrome [RCV002103686] Chr7:91993073 [GRCh38]
Chr7:91622387 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10713+18T>C single nucleotide variant Long QT syndrome [RCV002081859] Chr7:92098232 [GRCh38]
Chr7:91727546 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6477G>A (p.Ala2159=) single nucleotide variant Cardiovascular phenotype [RCV002352900]|Long QT syndrome [RCV002123406] Chr7:92070176 [GRCh38]
Chr7:91699490 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8020-12G>T single nucleotide variant Long QT syndrome [RCV002178095] Chr7:92082510 [GRCh38]
Chr7:91711824 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5613G>A (p.Ala1871=) single nucleotide variant Cardiovascular phenotype [RCV002346350]|Long QT syndrome [RCV002179777] Chr7:92061271 [GRCh38]
Chr7:91690585 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4452A>G (p.Glu1484=) single nucleotide variant Long QT syndrome [RCV002143823] Chr7:92038532 [GRCh38]
Chr7:91667846 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8598G>A (p.Glu2866=) single nucleotide variant Cardiovascular phenotype [RCV003308048]|Long QT syndrome [RCV002204033] Chr7:92083607 [GRCh38]
Chr7:91712921 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.405+19C>T single nucleotide variant Long QT syndrome [RCV002120478] Chr7:91992230 [GRCh38]
Chr7:91621544 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3533-17A>G single nucleotide variant Long QT syndrome [RCV002122368] Chr7:92014232 [GRCh38]
Chr7:91643546 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1002A>G (p.Leu334=) single nucleotide variant Long QT syndrome [RCV002155156] Chr7:92000919 [GRCh38]
Chr7:91630233 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.931-16A>T single nucleotide variant Long QT syndrome [RCV002199106] Chr7:92000832 [GRCh38]
Chr7:91630146 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.733-17T>C single nucleotide variant Long QT syndrome [RCV003115185] Chr7:91995586 [GRCh38]
Chr7:91624900 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.48+20C>T single nucleotide variant Long QT syndrome [RCV003115829] Chr7:91941167 [GRCh38]
Chr7:91570481 [GRCh37]
Chr7:7q21.2		 likely benign
NC_000007.13:g.(?_91731888)_(91732160_?)del deletion Long QT syndrome [RCV003116426] Chr7:91731888..91732160 [GRCh37]
Chr7:7q21.2		 uncertain significance
NC_000007.13:g.(?_91651532)_(91691820_?)del deletion Long QT syndrome [RCV003116427] Chr7:91651532..91691820 [GRCh37]
Chr7:7q21.2		 uncertain significance
NC_000007.13:g.(?_91603005)_(91609667_?)del deletion Long QT syndrome [RCV003116428] Chr7:91603005..91609667 [GRCh37]
Chr7:7q21.2		 uncertain significance
NC_000007.13:g.(?_91621452)_(91625134_?)del deletion Long QT syndrome [RCV003116429] Chr7:91621452..91625134 [GRCh37]
Chr7:7q21.2		 uncertain significance
NC_000007.13:g.(?_91621452)_(91646436_?)dup duplication Long QT syndrome [RCV003116431] Chr7:91621452..91646436 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3826C>T (p.Arg1276Ter) single nucleotide variant Long QT syndrome [RCV003111988] Chr7:92017091 [GRCh38]
Chr7:91646405 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4897C>T (p.Leu1633Phe) single nucleotide variant Long QT syndrome [RCV003114981] Chr7:92040878 [GRCh38]
Chr7:91670192 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4882G>A (p.Glu1628Lys) single nucleotide variant Long QT syndrome [RCV003115623]|not provided [RCV003481448] Chr7:92040863 [GRCh38]
Chr7:91670177 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4758G>A (p.Gln1586=) single nucleotide variant Long QT syndrome [RCV003117254] Chr7:92040739 [GRCh38]
Chr7:91670053 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2312C>A (p.Ala771Glu) single nucleotide variant Cardiovascular phenotype [RCV002443284]|not specified [RCV002271855] Chr7:92002229 [GRCh38]
Chr7:91631543 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10979T>G (p.Leu3660Trp) single nucleotide variant Long QT syndrome 11 [RCV002273235] Chr7:92100938 [GRCh38]
Chr7:91730252 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9236T>A (p.Met3079Lys) single nucleotide variant Cardiovascular phenotype [RCV004322802] Chr7:92089407 [GRCh38]
Chr7:91718721 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7257C>A (p.Thr2419=) single nucleotide variant Cardiovascular phenotype [RCV003296238] Chr7:92079390 [GRCh38]
Chr7:91708704 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2839G>T (p.Val947Leu) single nucleotide variant Cardiovascular phenotype [RCV002435217] Chr7:92002756 [GRCh38]
Chr7:91632070 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4175C>T (p.Thr1392Ile) single nucleotide variant Long QT syndrome 11 [RCV002288380]|Long QT syndrome [RCV003101663] Chr7:92029921 [GRCh38]
Chr7:91659235 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6637G>C (p.Glu2213Gln) single nucleotide variant Cardiovascular phenotype [RCV002366759] Chr7:92076879 [GRCh38]
Chr7:91706193 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6639A>T (p.Glu2213Asp) single nucleotide variant Cardiovascular phenotype [RCV002366762] Chr7:92076881 [GRCh38]
Chr7:91706195 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3619T>C (p.Cys1207Arg) single nucleotide variant Cardiovascular phenotype [RCV002452278] Chr7:92016135 [GRCh38]
Chr7:91645449 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7982A>G (p.Glu2661Gly) single nucleotide variant Cardiovascular phenotype [RCV002419053] Chr7:92080115 [GRCh38]
Chr7:91709429 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1149T>C (p.Ser383=) single nucleotide variant Cardiovascular phenotype [RCV002452364]|Long QT syndrome [RCV003775685] Chr7:92001066 [GRCh38]
Chr7:91630380 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2847G>A (p.Lys949=) single nucleotide variant Cardiovascular phenotype [RCV002435312] Chr7:92002764 [GRCh38]
Chr7:91632078 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1012A>T (p.Ile338Leu) single nucleotide variant Cardiovascular phenotype [RCV002452261] Chr7:92000929 [GRCh38]
Chr7:91630243 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6260T>C (p.Ile2087Thr) single nucleotide variant Cardiovascular phenotype [RCV002366724] Chr7:92066476 [GRCh38]
Chr7:91695790 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7432G>A (p.Glu2478Lys) single nucleotide variant Cardiovascular phenotype [RCV002385035] Chr7:92079565 [GRCh38]
Chr7:91708879 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2836G>C (p.Glu946Gln) single nucleotide variant Cardiovascular phenotype [RCV002435179]|Long QT syndrome [RCV003533268] Chr7:92002753 [GRCh38]
Chr7:91632067 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3380A>T (p.His1127Leu) single nucleotide variant Cardiovascular phenotype [RCV002451828] Chr7:92012490 [GRCh38]
Chr7:91641804 [GRCh37]
Chr7:7q21.2		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_005751.5(AKAP9):c.8085A>G (p.Arg2695=) single nucleotide variant Cardiovascular phenotype [RCV002419408] Chr7:92082587 [GRCh38]
Chr7:91711901 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5422A>C (p.Ile1808Leu) single nucleotide variant Cardiovascular phenotype [RCV002349499] Chr7:92052779 [GRCh38]
Chr7:91682093 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11406A>G (p.Gly3802=) single nucleotide variant Cardiovascular phenotype [RCV002452032] Chr7:92105753 [GRCh38]
Chr7:91735067 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6652G>A (p.Glu2218Lys) single nucleotide variant Cardiovascular phenotype [RCV002366861] Chr7:92076894 [GRCh38]
Chr7:91706208 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5429T>C (p.Met1810Thr) single nucleotide variant Cardiovascular phenotype [RCV002349529] Chr7:92052786 [GRCh38]
Chr7:91682100 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9991G>A (p.Gly3331Ser) single nucleotide variant not provided [RCV002287977] Chr7:92096950 [GRCh38]
Chr7:91726264 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11184G>A (p.Gly3728=) single nucleotide variant Cardiovascular phenotype [RCV002435233] Chr7:92102680 [GRCh38]
Chr7:91731994 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6148G>T (p.Asp2050Tyr) single nucleotide variant Long QT syndrome 11 [RCV002289446] Chr7:92065401 [GRCh38]
Chr7:91694715 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7404C>T (p.Val2468=) single nucleotide variant Cardiovascular phenotype [RCV002384895]|Long QT syndrome [RCV003098567] Chr7:92079537 [GRCh38]
Chr7:91708851 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11010G>A (p.Glu3670=) single nucleotide variant Cardiovascular phenotype [RCV002434916] Chr7:92100969 [GRCh38]
Chr7:91730283 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2823C>T (p.Leu941=) single nucleotide variant Cardiovascular phenotype [RCV002435001] Chr7:92002740 [GRCh38]
Chr7:91632054 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3643A>G (p.Thr1215Ala) single nucleotide variant Cardiovascular phenotype [RCV002452441] Chr7:92016159 [GRCh38]
Chr7:91645473 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8056G>A (p.Gly2686Arg) single nucleotide variant Cardiovascular phenotype [RCV002419336] Chr7:92082558 [GRCh38]
Chr7:91711872 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.663G>A (p.Lys221=) single nucleotide variant Cardiovascular phenotype [RCV002366791] Chr7:91994707 [GRCh38]
Chr7:91624021 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.665A>G (p.Asp222Gly) single nucleotide variant Cardiovascular phenotype [RCV002366884]|Long QT syndrome 11 [RCV003224631] Chr7:91994709 [GRCh38]
Chr7:91624023 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.2866T>C (p.Ser956Pro) single nucleotide variant Cardiovascular phenotype [RCV002437628] Chr7:92002783 [GRCh38]
Chr7:91632097 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10241A>T (p.Asp3414Val) single nucleotide variant Cardiovascular phenotype [RCV002387089] Chr7:92097200 [GRCh38]
Chr7:91726514 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11471G>T (p.Gly3824Val) single nucleotide variant Cardiovascular phenotype [RCV002454978] Chr7:92107347 [GRCh38]
Chr7:91736661 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7115T>C (p.Met2372Thr) single nucleotide variant Cardiovascular phenotype [RCV002367422]|Long QT syndrome [RCV003318418] Chr7:92079248 [GRCh38]
Chr7:91708562 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6742G>C (p.Glu2248Gln) single nucleotide variant Cardiovascular phenotype [RCV002369198]|Long QT syndrome [RCV003098353] Chr7:92076984 [GRCh38]
Chr7:91706298 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.3727C>G (p.Gln1243Glu) single nucleotide variant Cardiovascular phenotype [RCV002349142] Chr7:92016243 [GRCh38]
Chr7:91645557 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9592G>T (p.Asp3198Tyr) single nucleotide variant Cardiovascular phenotype [RCV002385258] Chr7:92095036 [GRCh38]
Chr7:91724350 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9593A>G (p.Asp3198Gly) single nucleotide variant Cardiovascular phenotype [RCV002385260]|Long QT syndrome [RCV003094836] Chr7:92095037 [GRCh38]
Chr7:91724351 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8116G>A (p.Ala2706Thr) single nucleotide variant Cardiovascular phenotype [RCV002419543] Chr7:92082618 [GRCh38]
Chr7:91711932 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2616C>G (p.Leu872=) single nucleotide variant Cardiovascular phenotype [RCV002437207] Chr7:92002533 [GRCh38]
Chr7:91631847 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10293T>C (p.Leu3431=) single nucleotide variant Cardiovascular phenotype [RCV002387619] Chr7:92097252 [GRCh38]
Chr7:91726566 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2853G>T (p.Glu951Asp) single nucleotide variant Cardiovascular phenotype [RCV002435396] Chr7:92002770 [GRCh38]
Chr7:91632084 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.3018A>G (p.Ala1006=) single nucleotide variant Cardiovascular phenotype [RCV002435845] Chr7:92002935 [GRCh38]
Chr7:91632249 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6289G>C (p.Val2097Leu) single nucleotide variant Cardiovascular phenotype [RCV002368718] Chr7:92066505 [GRCh38]
Chr7:91695819 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4970T>C (p.Leu1657Ser) single nucleotide variant Cardiovascular phenotype [RCV002351348]|Long QT syndrome [RCV003096543] Chr7:92042098 [GRCh38]
Chr7:91671412 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9730-3C>T single nucleotide variant Cardiovascular phenotype [RCV002387063] Chr7:92096686 [GRCh38]
Chr7:91726000 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2022G>A (p.Met674Ile) single nucleotide variant Cardiovascular phenotype [RCV002419619] Chr7:92001939 [GRCh38]
Chr7:91631253 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5461C>T (p.Leu1821=) single nucleotide variant Cardiovascular phenotype [RCV002349726]|Long QT syndrome [RCV003096749] Chr7:92052818 [GRCh38]
Chr7:91682132 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1105A>G (p.Lys369Glu) single nucleotide variant Cardiovascular phenotype [RCV002437098] Chr7:92001022 [GRCh38]
Chr7:91630336 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9565T>C (p.Leu3189=) single nucleotide variant Cardiovascular phenotype [RCV002385202]|Long QT syndrome [RCV003647917] Chr7:92093303 [GRCh38]
Chr7:91722617 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8149G>C (p.Glu2717Gln) single nucleotide variant Cardiovascular phenotype [RCV002421383]|Long QT syndrome [RCV003099849] Chr7:92082651 [GRCh38]
Chr7:91711965 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.8152G>A (p.Glu2718Lys) single nucleotide variant Cardiovascular phenotype [RCV002421403]|Long QT syndrome [RCV003103478] Chr7:92082654 [GRCh38]
Chr7:91711968 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2666A>G (p.Tyr889Cys) single nucleotide variant Cardiovascular phenotype [RCV002453139] Chr7:92002583 [GRCh38]
Chr7:91631897 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11074G>A (p.Asp3692Asn) single nucleotide variant Cardiovascular phenotype [RCV002437203] Chr7:92101033 [GRCh38]
Chr7:91730347 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10092T>C (p.Asn3364=) single nucleotide variant Cardiovascular phenotype [RCV002452791] Chr7:92097051 [GRCh38]
Chr7:91726365 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3547C>T (p.Pro1183Ser) single nucleotide variant Cardiovascular phenotype [RCV002454830] Chr7:92014263 [GRCh38]
Chr7:91643577 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5548C>T (p.Leu1850=) single nucleotide variant Cardiovascular phenotype [RCV002351915] Chr7:92052905 [GRCh38]
Chr7:91682219 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5477T>G (p.Val1826Gly) single nucleotide variant Cardiovascular phenotype [RCV002349821] Chr7:92052834 [GRCh38]
Chr7:91682148 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5478G>A (p.Val1826=) single nucleotide variant Cardiovascular phenotype [RCV002349824] Chr7:92052835 [GRCh38]
Chr7:91682149 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2028A>G (p.Gln676=) single nucleotide variant Cardiovascular phenotype [RCV002419715] Chr7:92001945 [GRCh38]
Chr7:91631259 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2636A>G (p.Glu879Gly) single nucleotide variant Cardiovascular phenotype [RCV002437264] Chr7:92002553 [GRCh38]
Chr7:91631867 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7094A>G (p.Asn2365Ser) single nucleotide variant Cardiovascular phenotype [RCV002367294] Chr7:92079227 [GRCh38]
Chr7:91708541 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.576+5G>A single nucleotide variant Cardiovascular phenotype [RCV002349974]|Long QT syndrome [RCV003647895] Chr7:91993060 [GRCh38]
Chr7:91622374 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2692G>A (p.Glu898Lys) single nucleotide variant Cardiovascular phenotype [RCV002437360] Chr7:92002609 [GRCh38]
Chr7:91631923 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6270A>C (p.Leu2090=) single nucleotide variant Cardiovascular phenotype [RCV002368658] Chr7:92066486 [GRCh38]
Chr7:91695800 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7453T>G (p.Ser2485Ala) single nucleotide variant Cardiovascular phenotype [RCV002385126] Chr7:92079586 [GRCh38]
Chr7:91708900 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3026T>C (p.Val1009Ala) single nucleotide variant Cardiovascular phenotype [RCV002435937] Chr7:92002943 [GRCh38]
Chr7:91632257 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.377G>A (p.Arg126Lys) single nucleotide variant Cardiovascular phenotype [RCV002351140] Chr7:91992183 [GRCh38]
Chr7:91621497 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3782A>G (p.Asn1261Ser) single nucleotide variant Cardiovascular phenotype [RCV002351147] Chr7:92017047 [GRCh38]
Chr7:91646361 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9845T>C (p.Met3282Thr) single nucleotide variant Cardiovascular phenotype [RCV002387273] Chr7:92096804 [GRCh38]
Chr7:91726118 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9748G>C (p.Glu3250Gln) single nucleotide variant Cardiovascular phenotype [RCV002387084] Chr7:92096707 [GRCh38]
Chr7:91726021 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3787G>A (p.Val1263Ile) single nucleotide variant Cardiovascular phenotype [RCV002351177] Chr7:92017052 [GRCh38]
Chr7:91646366 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4913C>T (p.Ala1638Val) single nucleotide variant Cardiovascular phenotype [RCV002351224] Chr7:92040894 [GRCh38]
Chr7:91670208 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2657A>C (p.Glu886Ala) single nucleotide variant Cardiovascular phenotype [RCV002453104] Chr7:92002574 [GRCh38]
Chr7:91631888 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6364dup (p.Thr2122fs) duplication Cardiovascular phenotype [RCV002369045] Chr7:92070057..92070058 [GRCh38]
Chr7:91699371..91699372 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3552A>G (p.Leu1184=) single nucleotide variant Cardiovascular phenotype [RCV002454875] Chr7:92014268 [GRCh38]
Chr7:91643582 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.987A>C (p.Thr329=) single nucleotide variant Cardiovascular phenotype [RCV002387372] Chr7:92000904 [GRCh38]
Chr7:91630218 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5486G>A (p.Gly1829Asp) single nucleotide variant Cardiovascular phenotype [RCV002349874]|Long QT syndrome [RCV003647894] Chr7:92052843 [GRCh38]
Chr7:91682157 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4920A>G (p.Arg1640=) single nucleotide variant Cardiovascular phenotype [RCV002351265] Chr7:92042048 [GRCh38]
Chr7:91671362 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9858C>T (p.Ala3286=) single nucleotide variant Cardiovascular phenotype [RCV002387318]|Long QT syndrome [RCV003774217] Chr7:92096817 [GRCh38]
Chr7:91726131 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9627A>G (p.Thr3209=) single nucleotide variant Cardiovascular phenotype [RCV002385343] Chr7:92095071 [GRCh38]
Chr7:91724385 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10127C>T (p.Thr3376Ile) single nucleotide variant Cardiovascular phenotype [RCV002455000] Chr7:92097086 [GRCh38]
Chr7:91726400 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2640C>T (p.Asp880=) single nucleotide variant Cardiovascular phenotype [RCV002452984] Chr7:92002557 [GRCh38]
Chr7:91631871 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6371A>G (p.Lys2124Arg) single nucleotide variant Cardiovascular phenotype [RCV002369093] Chr7:92070070 [GRCh38]
Chr7:91699384 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.6372A>G (p.Lys2124=) single nucleotide variant Cardiovascular phenotype [RCV002369095] Chr7:92070071 [GRCh38]
Chr7:91699385 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2642G>C (p.Ser881Thr) single nucleotide variant Cardiovascular phenotype [RCV002452996] Chr7:92002559 [GRCh38]
Chr7:91631873 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.373A>G (p.Met125Val) single nucleotide variant Cardiovascular phenotype [RCV002349222] Chr7:91992179 [GRCh38]
Chr7:91621493 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6232C>T (p.His2078Tyr) single nucleotide variant Cardiovascular phenotype [RCV002366580] Chr7:92066448 [GRCh38]
Chr7:91695762 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9862T>G (p.Leu3288Val) single nucleotide variant Cardiovascular phenotype [RCV002387339]|Long QT syndrome [RCV003533220] Chr7:92096821 [GRCh38]
Chr7:91726135 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.7095T>C (p.Asn2365=) single nucleotide variant Cardiovascular phenotype [RCV002367298] Chr7:92079228 [GRCh38]
Chr7:91708542 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10763T>C (p.Leu3588Pro) single nucleotide variant Cardiovascular phenotype [RCV002419853] Chr7:92099736 [GRCh38]
Chr7:91729050 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11126A>G (p.Glu3709Gly) single nucleotide variant Cardiovascular phenotype [RCV002437580] Chr7:92102622 [GRCh38]
Chr7:91731936 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2997_2999del (p.Ile1001del) deletion Cardiovascular phenotype [RCV002435552] Chr7:92002912..92002914 [GRCh38]
Chr7:91632226..91632228 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9729+4C>T single nucleotide variant Cardiovascular phenotype [RCV002387046]|Long QT syndrome [RCV003103612] Chr7:92095177 [GRCh38]
Chr7:91724491 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6307A>T (p.Ile2103Phe) single nucleotide variant Cardiovascular phenotype [RCV002368810] Chr7:92066523 [GRCh38]
Chr7:91695837 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3668A>T (p.Asn1223Ile) single nucleotide variant Cardiovascular phenotype [RCV002452613] Chr7:92016184 [GRCh38]
Chr7:91645498 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8096T>C (p.Val2699Ala) single nucleotide variant Cardiovascular phenotype [RCV002419452] Chr7:92082598 [GRCh38]
Chr7:91711912 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11471G>A (p.Gly3824Glu) single nucleotide variant Cardiovascular phenotype [RCV002454973] Chr7:92107347 [GRCh38]
Chr7:91736661 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1243G>A (p.Glu415Lys) single nucleotide variant Cardiovascular phenotype [RCV004246151]|Long QT syndrome 11 [RCV003148102] Chr7:92001160 [GRCh38]
Chr7:91630474 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5359C>T (p.His1787Tyr) single nucleotide variant Cardiovascular phenotype [RCV002347002] Chr7:92045204 [GRCh38]
Chr7:91674518 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1818A>G (p.Glu606=) single nucleotide variant Cardiovascular phenotype [RCV002410291] Chr7:92001735 [GRCh38]
Chr7:91631049 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1253T>G (p.Ile418Arg) single nucleotide variant Cardiovascular phenotype [RCV002416820]|Long QT syndrome [RCV003099796] Chr7:92001170 [GRCh38]
Chr7:91630484 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7945C>T (p.Leu2649=) single nucleotide variant Cardiovascular phenotype [RCV002416840] Chr7:92080078 [GRCh38]
Chr7:91709392 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11687-115dup duplication not provided [RCV002467313] Chr7:92110000..92110001 [GRCh38]
Chr7:91739314..91739315 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7827A>G (p.Ser2609=) single nucleotide variant Cardiovascular phenotype [RCV002412097] Chr7:92079960 [GRCh38]
Chr7:91709274 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2542A>G (p.Asn848Asp) single nucleotide variant Long QT syndrome [RCV002302891] Chr7:92002459 [GRCh38]
Chr7:91631773 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8409A>G (p.Gly2803=) single nucleotide variant Cardiovascular phenotype [RCV002412601] Chr7:92083418 [GRCh38]
Chr7:91712732 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2161A>G (p.Ile721Val) single nucleotide variant Cardiovascular phenotype [RCV002417901] Chr7:92002078 [GRCh38]
Chr7:91631392 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1841T>C (p.Met614Thr) single nucleotide variant Cardiovascular phenotype [RCV002412860]|Long QT syndrome [RCV003097292] Chr7:92001758 [GRCh38]
Chr7:91631072 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5602C>T (p.Leu1868Phe) single nucleotide variant Cardiovascular phenotype [RCV002344911] Chr7:92061260 [GRCh38]
Chr7:91690574 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1064C>A (p.Ala355Asp) single nucleotide variant Cardiovascular phenotype [RCV002412923] Chr7:92000981 [GRCh38]
Chr7:91630295 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4925C>T (p.Ser1642Phe) single nucleotide variant Cardiovascular phenotype [RCV003288274] Chr7:92042053 [GRCh38]
Chr7:91671367 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3401A>G (p.Tyr1134Cys) single nucleotide variant Cardiovascular phenotype [RCV003288275]|Long QT syndrome [RCV003777106] Chr7:92012511 [GRCh38]
Chr7:91641825 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5631del (p.Glu1877fs) deletion Cardiovascular phenotype [RCV002345095] Chr7:92061289 [GRCh38]
Chr7:91690603 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5639G>T (p.Arg1880Leu) single nucleotide variant Cardiovascular phenotype [RCV002345114] Chr7:92061297 [GRCh38]
Chr7:91690611 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4374A>G (p.Gln1458=) single nucleotide variant Long QT syndrome [RCV002967575] Chr7:92038454 [GRCh38]
Chr7:91667768 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11622A>G (p.Arg3874=) single nucleotide variant not specified [RCV004700090] Chr7:92108569 [GRCh38]
Chr7:91737883 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3676G>A (p.Asp1226Asn) single nucleotide variant Cardiovascular phenotype [RCV002346679] Chr7:92016192 [GRCh38]
Chr7:91645506 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3797A>G (p.Glu1266Gly) single nucleotide variant Cardiovascular phenotype [RCV002363928] Chr7:92017062 [GRCh38]
Chr7:91646376 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2013G>C (p.Gln671His) single nucleotide variant Cardiovascular phenotype [RCV002417380] Chr7:92001930 [GRCh38]
Chr7:91631244 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2294A>G (p.Asp765Gly) single nucleotide variant Cardiovascular phenotype [RCV002446247] Chr7:92002211 [GRCh38]
Chr7:91631525 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6880A>G (p.Ile2294Val) single nucleotide variant Cardiovascular phenotype [RCV002378021]|Long QT syndrome [RCV003098409] Chr7:92077810 [GRCh38]
Chr7:91707124 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1580A>G (p.Gln527Arg) single nucleotide variant Cardiovascular phenotype [RCV002405793]|Long QT syndrome [RCV003096966] Chr7:92001497 [GRCh38]
Chr7:91630811 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2174A>G (p.Gln725Arg) single nucleotide variant Cardiovascular phenotype [RCV002432785] Chr7:92002091 [GRCh38]
Chr7:91631405 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1305A>T (p.Ala435=) single nucleotide variant Cardiovascular phenotype [RCV002380931] Chr7:92001222 [GRCh38]
Chr7:91630536 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8662G>A (p.Glu2888Lys) single nucleotide variant Cardiovascular phenotype [RCV002449661]|Long QT syndrome [RCV003776526] Chr7:92084655 [GRCh38]
Chr7:91713969 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2122T>A (p.Ser708Thr) single nucleotide variant Cardiovascular phenotype [RCV002417644]|Long QT syndrome [RCV003533251] Chr7:92002039 [GRCh38]
Chr7:91631353 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2125C>T (p.Leu709Phe) single nucleotide variant Cardiovascular phenotype [RCV002417686]|Long QT syndrome [RCV003098636] Chr7:92002042 [GRCh38]
Chr7:91631356 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9528A>G (p.Glu3176=) single nucleotide variant Cardiovascular phenotype [RCV002374226]|Long QT syndrome [RCV003533215] Chr7:92093266 [GRCh38]
Chr7:91722580 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1182A>G (p.Ile394Met) single nucleotide variant Cardiovascular phenotype [RCV002335240] Chr7:92001099 [GRCh38]
Chr7:91630413 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2607T>C (p.Ala869=) single nucleotide variant Cardiovascular phenotype [RCV002426311] Chr7:92002524 [GRCh38]
Chr7:91631838 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7131C>T (p.Leu2377=) single nucleotide variant Cardiovascular phenotype [RCV002378345]|Long QT syndrome [RCV003098479] Chr7:92079264 [GRCh38]
Chr7:91708578 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5162+4T>A single nucleotide variant Cardiovascular phenotype [RCV002338324] Chr7:92042775 [GRCh38]
Chr7:91672089 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5810A>G (p.Gln1937Arg) single nucleotide variant Cardiovascular phenotype [RCV002353116] Chr7:92062319 [GRCh38]
Chr7:91691633 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11134C>T (p.Arg3712Ter) single nucleotide variant Cardiovascular phenotype [RCV002439371] Chr7:92102630 [GRCh38]
Chr7:91731944 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9481G>T (p.Val3161Phe) single nucleotide variant Cardiovascular phenotype [RCV002443516]|Long QT syndrome [RCV003094816] Chr7:92093219 [GRCh38]
Chr7:91722533 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3959A>G (p.Asn1320Ser) single nucleotide variant Cardiovascular phenotype [RCV002357652]|Long QT syndrome [RCV003094457] Chr7:92022820 [GRCh38]
Chr7:91652134 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.7229C>A (p.Thr2410Asn) single nucleotide variant Cardiovascular phenotype [RCV002370986]|Long QT syndrome [RCV003533196] Chr7:92079362 [GRCh38]
Chr7:91708676 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6413A>G (p.Asp2138Gly) single nucleotide variant Cardiovascular phenotype [RCV002361643] Chr7:92070112 [GRCh38]
Chr7:91699426 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9214G>A (p.Gly3072Ser) single nucleotide variant Cardiovascular phenotype [RCV002371265] Chr7:92089385 [GRCh38]
Chr7:91718699 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.751_752del (p.Leu251fs) microsatellite Cardiovascular phenotype [RCV002393776] Chr7:91995619..91995620 [GRCh38]
Chr7:91624933..91624934 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8503C>T (p.His2835Tyr) single nucleotide variant Cardiovascular phenotype [RCV002447730] Chr7:92083512 [GRCh38]
Chr7:91712826 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10151G>A (p.Arg3384Lys) single nucleotide variant Cardiovascular phenotype [RCV002328424]|Long QT syndrome [RCV003094712] Chr7:92097110 [GRCh38]
Chr7:91726424 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6385T>C (p.Leu2129=) single nucleotide variant Cardiovascular phenotype [RCV002354076] Chr7:92070084 [GRCh38]
Chr7:91699398 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8235G>T (p.Glu2745Asp) single nucleotide variant Cardiovascular phenotype [RCV002428023] Chr7:92083244 [GRCh38]
Chr7:91712558 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.740C>G (p.Ala247Gly) single nucleotide variant Cardiovascular phenotype [RCV003308122]|Long QT syndrome [RCV002298415] Chr7:91995610 [GRCh38]
Chr7:91624924 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2293G>T (p.Asp765Tyr) single nucleotide variant Cardiovascular phenotype [RCV002457499] Chr7:92002210 [GRCh38]
Chr7:91631524 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8908G>A (p.Asp2970Asn) single nucleotide variant Cardiovascular phenotype [RCV002376077] Chr7:92085570 [GRCh38]
Chr7:91714884 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10056A>C (p.Leu3352=) single nucleotide variant Cardiovascular phenotype [RCV002404146]|Long QT syndrome [RCV003647924] Chr7:92097015 [GRCh38]
Chr7:91726329 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10918G>A (p.Gly3640Ser) single nucleotide variant Cardiovascular phenotype [RCV002428487] Chr7:92100877 [GRCh38]
Chr7:91730191 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1037T>C (p.Leu346Pro) single nucleotide variant Cardiovascular phenotype [RCV002394640]|Long QT syndrome [RCV003103705] Chr7:92000954 [GRCh38]
Chr7:91630268 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4508T>C (p.Phe1503Ser) single nucleotide variant Cardiovascular phenotype [RCV002339873] Chr7:92038588 [GRCh38]
Chr7:91667902 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8383C>A (p.Pro2795Thr) single nucleotide variant Cardiovascular phenotype [RCV002434829] Chr7:92083392 [GRCh38]
Chr7:91712706 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3298A>C (p.Asn1100His) single nucleotide variant Cardiovascular phenotype [RCV002326186]|Long QT syndrome [RCV003099374] Chr7:92003215 [GRCh38]
Chr7:91632529 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.17G>A (p.Arg6Lys) single nucleotide variant Cardiovascular phenotype [RCV002407884]|Long QT syndrome [RCV003097252] Chr7:91941116 [GRCh38]
Chr7:91570430 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8656A>C (p.Ile2886Leu) single nucleotide variant Long QT syndrome [RCV002303596] Chr7:92084649 [GRCh38]
Chr7:91713963 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7498A>G (p.Arg2500Gly) single nucleotide variant Cardiovascular phenotype [RCV002391581] Chr7:92079631 [GRCh38]
Chr7:91708945 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7977_7978del (p.Lys2660fs) microsatellite Cardiovascular phenotype [RCV002416930] Chr7:92080103..92080104 [GRCh38]
Chr7:91709417..91709418 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5947A>C (p.Met1983Leu) single nucleotide variant Cardiovascular phenotype [RCV002355948]|Long QT syndrome [RCV003647897] Chr7:92062456 [GRCh38]
Chr7:91691770 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2962G>A (p.Glu988Lys) single nucleotide variant Cardiovascular phenotype [RCV002441998] Chr7:92002879 [GRCh38]
Chr7:91632193 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11467T>C (p.Tyr3823His) single nucleotide variant Cardiovascular phenotype [RCV002337607] Chr7:92107343 [GRCh38]
Chr7:91736657 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10304G>A (p.Arg3435Gln) single nucleotide variant Cardiovascular phenotype [RCV002383599] Chr7:92097263 [GRCh38]
Chr7:91726577 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1899C>T (p.His633=) single nucleotide variant Cardiovascular phenotype [RCV002408172]|Long QT syndrome [RCV003774549] Chr7:92001816 [GRCh38]
Chr7:91631130 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1589T>A (p.Leu530His) single nucleotide variant Long QT syndrome [RCV002305385] Chr7:92001506 [GRCh38]
Chr7:91630820 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2974T>C (p.Leu992=) single nucleotide variant Cardiovascular phenotype [RCV002442134]|Long QT syndrome [RCV003102935] Chr7:92002891 [GRCh38]
Chr7:91632205 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5803del (p.Glu1935fs) deletion Cardiovascular phenotype [RCV002359905] Chr7:92062312 [GRCh38]
Chr7:91691626 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4788A>G (p.Arg1596=) single nucleotide variant Cardiovascular phenotype [RCV002337794]|Long QT syndrome [RCV003096463] Chr7:92040769 [GRCh38]
Chr7:91670083 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10748C>T (p.Ser3583Leu) single nucleotide variant Cardiovascular phenotype [RCV002417208]|Long QT syndrome [RCV003647927] Chr7:92099721 [GRCh38]
Chr7:91729035 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10749A>G (p.Ser3583=) single nucleotide variant Cardiovascular phenotype [RCV002417221] Chr7:92099722 [GRCh38]
Chr7:91729036 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.598A>G (p.Ile200Val) single nucleotide variant Cardiovascular phenotype [RCV002357862] Chr7:91994642 [GRCh38]
Chr7:91623956 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3255A>C (p.Arg1085Ser) single nucleotide variant Cardiovascular phenotype [RCV002445632] Chr7:92003172 [GRCh38]
Chr7:91632486 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.146T>A (p.Val49Glu) single nucleotide variant Cardiovascular phenotype [RCV002396909] Chr7:91973808 [GRCh38]
Chr7:91603122 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11046T>C (p.Asn3682=) single nucleotide variant Cardiovascular phenotype [RCV002433418] Chr7:92101005 [GRCh38]
Chr7:91730319 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4224G>A (p.Lys1408=) single nucleotide variant Cardiovascular phenotype [RCV002328060] Chr7:92029970 [GRCh38]
Chr7:91659284 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9203T>C (p.Ile3068Thr) single nucleotide variant Cardiovascular phenotype [RCV002371247] Chr7:92086406 [GRCh38]
Chr7:91715720 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.292G>A (p.Gly98Ser) single nucleotide variant Cardiovascular phenotype [RCV002440045] Chr7:91973954 [GRCh38]
Chr7:91603268 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8221G>A (p.Ala2741Thr) single nucleotide variant Cardiovascular phenotype [RCV002427992]|Long QT syndrome [RCV003099869] Chr7:92083230 [GRCh38]
Chr7:91712544 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.37G>A (p.Gly13Ser) single nucleotide variant Cardiovascular phenotype [RCV002363958] Chr7:91941136 [GRCh38]
Chr7:91570450 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10130G>A (p.Arg3377Gln) single nucleotide variant Cardiovascular phenotype [RCV002363991] Chr7:92097089 [GRCh38]
Chr7:91726403 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1399C>T (p.His467Tyr) single nucleotide variant Cardiovascular phenotype [RCV002389177] Chr7:92001316 [GRCh38]
Chr7:91630630 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10001A>G (p.Gln3334Arg) single nucleotide variant Cardiovascular phenotype [RCV002319775] Chr7:92096960 [GRCh38]
Chr7:91726274 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3071T>G (p.Val1024Gly) single nucleotide variant Cardiovascular phenotype [RCV002319780]|Long QT syndrome [RCV003102300] Chr7:92002988 [GRCh38]
Chr7:91632302 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.307-4T>C single nucleotide variant Cardiovascular phenotype [RCV002319810] Chr7:91980285 [GRCh38]
Chr7:91609599 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.406-5T>C single nucleotide variant Cardiovascular phenotype [RCV002321422] Chr7:91992880 [GRCh38]
Chr7:91622194 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11618A>G (p.Asp3873Gly) single nucleotide variant Cardiovascular phenotype [RCV002375561] Chr7:92108565 [GRCh38]
Chr7:91737879 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3275A>C (p.Asn1092Thr) single nucleotide variant Cardiovascular phenotype [RCV002325027]|Long QT syndrome [RCV003099354] Chr7:92003192 [GRCh38]
Chr7:91632506 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4779A>G (p.Glu1593=) single nucleotide variant Cardiovascular phenotype [RCV002337760]|Long QT syndrome [RCV003775963] Chr7:92040760 [GRCh38]
Chr7:91670074 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6319C>G (p.Gln2107Glu) single nucleotide variant Cardiovascular phenotype [RCV002353987] Chr7:92066535 [GRCh38]
Chr7:91695849 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8919T>G (p.Ile2973Met) single nucleotide variant Cardiovascular phenotype [RCV002376105] Chr7:92085581 [GRCh38]
Chr7:91714895 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6745C>G (p.Gln2249Glu) single nucleotide variant Cardiovascular phenotype [RCV002377951]|Long QT syndrome [RCV003098355]|not specified [RCV004700737] Chr7:92076987 [GRCh38]
Chr7:91706301 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11005G>C (p.Ala3669Pro) single nucleotide variant Cardiovascular phenotype [RCV002431084] Chr7:92100964 [GRCh38]
Chr7:91730278 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9938G>A (p.Ser3313Asn) single nucleotide variant Cardiovascular phenotype [RCV002382872] Chr7:92096897 [GRCh38]
Chr7:91726211 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11232G>A (p.Gly3744=) single nucleotide variant Cardiovascular phenotype [RCV002442132] Chr7:92102728 [GRCh38]
Chr7:91732042 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.219A>G (p.Val73=) single nucleotide variant Cardiovascular phenotype [RCV002425647] Chr7:91973881 [GRCh38]
Chr7:91603195 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2473C>T (p.Leu825Phe) single nucleotide variant Cardiovascular phenotype [RCV002450624] Chr7:92002390 [GRCh38]
Chr7:91631704 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8120G>A (p.Ser2707Asn) single nucleotide variant Long QT syndrome [RCV002301928] Chr7:92082622 [GRCh38]
Chr7:91711936 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11435C>T (p.Ser3812Leu) single nucleotide variant Cardiovascular phenotype [RCV002457288]|Long QT syndrome [RCV003099505] Chr7:92107311 [GRCh38]
Chr7:91736625 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8926G>A (p.Val2976Ile) single nucleotide variant Cardiovascular phenotype [RCV002376143] Chr7:92085588 [GRCh38]
Chr7:91714902 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.995A>G (p.Glu332Gly) single nucleotide variant Cardiovascular phenotype [RCV002382939] Chr7:92000912 [GRCh38]
Chr7:91630226 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4752A>G (p.Glu1584=) single nucleotide variant Cardiovascular phenotype [RCV002330631] Chr7:92040733 [GRCh38]
Chr7:91670047 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11305G>A (p.Val3769Ile) single nucleotide variant Cardiovascular phenotype [RCV002319935] Chr7:92102801 [GRCh38]
Chr7:91732115 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7535A>T (p.Asp2512Val) single nucleotide variant Cardiovascular phenotype [RCV002393901] Chr7:92079668 [GRCh38]
Chr7:91708982 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6047G>A (p.Arg2016His) single nucleotide variant Cardiovascular phenotype [RCV002358240]|Long QT syndrome [RCV003647899] Chr7:92065300 [GRCh38]
Chr7:91694614 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10470A>G (p.Thr3490=) single nucleotide variant Cardiovascular phenotype [RCV002405722] Chr7:92097657 [GRCh38]
Chr7:91726971 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1300C>T (p.Arg434Trp) single nucleotide variant Cardiovascular phenotype [RCV002380834]|Long QT syndrome [RCV003103637] Chr7:92001217 [GRCh38]
Chr7:91630531 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7274A>G (p.Gln2425Arg) single nucleotide variant Cardiovascular phenotype [RCV002382602] Chr7:92079407 [GRCh38]
Chr7:91708721 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10449_10451del (p.Gln3484del) deletion Cardiovascular phenotype [RCV002403205] Chr7:92097634..92097636 [GRCh38]
Chr7:91726948..91726950 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11275C>T (p.Pro3759Ser) single nucleotide variant Cardiovascular phenotype [RCV002444148] Chr7:92102771 [GRCh38]
Chr7:91732085 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6049G>A (p.Asp2017Asn) single nucleotide variant Cardiovascular phenotype [RCV002358244] Chr7:92065302 [GRCh38]
Chr7:91694616 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7548C>A (p.Thr2516=) single nucleotide variant Cardiovascular phenotype [RCV002393960] Chr7:92079681 [GRCh38]
Chr7:91708995 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10G>C (p.Glu4Gln) single nucleotide variant Cardiovascular phenotype [RCV002430987]|Long QT syndrome [RCV003101886] Chr7:91941109 [GRCh38]
Chr7:91570423 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.10476A>C (p.Glu3492Asp) single nucleotide variant Cardiovascular phenotype [RCV002405748] Chr7:92097663 [GRCh38]
Chr7:91726977 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.729G>A (p.Gln243=) single nucleotide variant Cardiovascular phenotype [RCV002382732] Chr7:91994773 [GRCh38]
Chr7:91624087 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4488T>A (p.Asp1496Glu) single nucleotide variant Cardiovascular phenotype [RCV002328587] Chr7:92038568 [GRCh38]
Chr7:91667882 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6830A>G (p.His2277Arg) single nucleotide variant Cardiovascular phenotype [RCV002369654] Chr7:92077760 [GRCh38]
Chr7:91707074 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2472A>G (p.Ile824Met) single nucleotide variant Cardiovascular phenotype [RCV002455555] Chr7:92002389 [GRCh38]
Chr7:91631703 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9019G>T (p.Ala3007Ser) single nucleotide variant Cardiovascular phenotype [RCV002376411] Chr7:92085681 [GRCh38]
Chr7:91714995 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1545A>G (p.Glu515=) single nucleotide variant Cardiovascular phenotype [RCV002403238] Chr7:92001462 [GRCh38]
Chr7:91630776 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7643A>T (p.Glu2548Val) single nucleotide variant Cardiovascular phenotype [RCV002396368] Chr7:92079776 [GRCh38]
Chr7:91709090 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2727A>G (p.Thr909=) single nucleotide variant Cardiovascular phenotype [RCV002431336] Chr7:92002644 [GRCh38]
Chr7:91631958 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.137A>G (p.Lys46Arg) single nucleotide variant Cardiovascular phenotype [RCV002381122] Chr7:91973799 [GRCh38]
Chr7:91603113 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6517C>T (p.Arg2173Ter) single nucleotide variant Cardiovascular phenotype [RCV002364196] Chr7:92070914 [GRCh38]
Chr7:91700228 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1729T>G (p.Ser577Ala) single nucleotide variant Cardiovascular phenotype [RCV002399157] Chr7:92001646 [GRCh38]
Chr7:91630960 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.614G>A (p.Gly205Asp) single nucleotide variant Cardiovascular phenotype [RCV002360425] Chr7:91994658 [GRCh38]
Chr7:91623972 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3803A>G (p.Asn1268Ser) single nucleotide variant Cardiovascular phenotype [RCV002363970] Chr7:92017068 [GRCh38]
Chr7:91646382 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9923G>A (p.Arg3308Gln) single nucleotide variant Cardiovascular phenotype [RCV002382842] Chr7:92096882 [GRCh38]
Chr7:91726196 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2361T>C (p.Leu787=) single nucleotide variant Cardiovascular phenotype [RCV002457708] Chr7:92002278 [GRCh38]
Chr7:91631592 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.955T>G (p.Ser319Ala) single nucleotide variant Cardiovascular phenotype [RCV002374310] Chr7:92000872 [GRCh38]
Chr7:91630186 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1549G>C (p.Gly517Arg) single nucleotide variant Cardiovascular phenotype [RCV002403324]|Long QT syndrome [RCV003096912] Chr7:92001466 [GRCh38]
Chr7:91630780 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3101C>T (p.Ser1034Leu) single nucleotide variant Cardiovascular phenotype [RCV002325989] Chr7:92003018 [GRCh38]
Chr7:91632332 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6298T>A (p.Phe2100Ile) single nucleotide variant Cardiovascular phenotype [RCV002353941] Chr7:92066514 [GRCh38]
Chr7:91695828 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10724T>C (p.Val3575Ala) single nucleotide variant Cardiovascular phenotype [RCV002423638]|Long QT syndrome [RCV003097401] Chr7:92099697 [GRCh38]
Chr7:91729011 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1145A>G (p.Asn382Ser) single nucleotide variant Cardiovascular phenotype [RCV002459351]|Long QT syndrome [RCV003647875] Chr7:92001062 [GRCh38]
Chr7:91630376 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.93T>G (p.Ser31Arg) single nucleotide variant Cardiovascular phenotype [RCV002373944] Chr7:91973755 [GRCh38]
Chr7:91603069 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8890C>T (p.Pro2964Ser) single nucleotide variant Cardiovascular phenotype [RCV002376013] Chr7:92085552 [GRCh38]
Chr7:91714866 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6735A>G (p.Gln2245=) single nucleotide variant Cardiovascular phenotype [RCV002377928] Chr7:92076977 [GRCh38]
Chr7:91706291 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.24G>A (p.Lys8=) single nucleotide variant Cardiovascular phenotype [RCV002431083]|Long QT syndrome [RCV003775274] Chr7:91941123 [GRCh38]
Chr7:91570437 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9959G>A (p.Arg3320Gln) single nucleotide variant Cardiovascular phenotype [RCV002382936]|Long QT syndrome [RCV003103625] Chr7:92096918 [GRCh38]
Chr7:91726232 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2381A>G (p.His794Arg) single nucleotide variant Cardiovascular phenotype [RCV002457901] Chr7:92002298 [GRCh38]
Chr7:91631612 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10582G>T (p.Val3528Phe) single nucleotide variant Cardiovascular phenotype [RCV002399233] Chr7:92097769 [GRCh38]
Chr7:91727083 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.77A>C (p.Gln26Pro) single nucleotide variant Cardiovascular phenotype [RCV002409890] Chr7:91973739 [GRCh38]
Chr7:91603053 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9293A>G (p.His3098Arg) single nucleotide variant Cardiovascular phenotype [RCV002371490]|Long QT syndrome [RCV003533210] Chr7:92089464 [GRCh38]
Chr7:91718778 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8927T>C (p.Val2976Ala) single nucleotide variant Cardiovascular phenotype [RCV002376144] Chr7:92085589 [GRCh38]
Chr7:91714903 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11311G>A (p.Val3771Ile) single nucleotide variant Cardiovascular phenotype [RCV002322534]|Long QT syndrome [RCV003533160] Chr7:92102807 [GRCh38]
Chr7:91732121 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8610C>T (p.Thr2870=) single nucleotide variant Cardiovascular phenotype [RCV002448020] Chr7:92083619 [GRCh38]
Chr7:91712933 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8340C>G (p.Ser2780=) single nucleotide variant Cardiovascular phenotype [RCV002434675] Chr7:92083349 [GRCh38]
Chr7:91712663 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8344A>G (p.Thr2782Ala) single nucleotide variant Cardiovascular phenotype [RCV002434682] Chr7:92083353 [GRCh38]
Chr7:91712667 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9967C>T (p.His3323Tyr) single nucleotide variant Cardiovascular phenotype [RCV002382964] Chr7:92096926 [GRCh38]
Chr7:91726240 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8357T>C (p.Leu2786Pro) single nucleotide variant Cardiovascular phenotype [RCV002434723] Chr7:92083366 [GRCh38]
Chr7:91712680 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11592T>C (p.Cys3864=) single nucleotide variant Cardiovascular phenotype [RCV002357460] Chr7:92108539 [GRCh38]
Chr7:91737853 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9390G>C (p.Gln3130His) single nucleotide variant Cardiovascular phenotype [RCV002443391] Chr7:92093128 [GRCh38]
Chr7:91722442 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.198C>T (p.Tyr66=) single nucleotide variant Cardiovascular phenotype [RCV002423810]|Long QT syndrome [RCV003100983] Chr7:91973860 [GRCh38]
Chr7:91603174 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8276A>G (p.Gln2759Arg) single nucleotide variant Cardiovascular phenotype [RCV002430226] Chr7:92083285 [GRCh38]
Chr7:91712599 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10616T>C (p.Phe3539Ser) single nucleotide variant Cardiovascular phenotype [RCV002404252]|Long QT syndrome [RCV003097249] Chr7:92098117 [GRCh38]
Chr7:91727431 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10198G>A (p.Glu3400Lys) single nucleotide variant Cardiovascular phenotype [RCV002353858] Chr7:92097157 [GRCh38]
Chr7:91726471 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3919A>G (p.Ile1307Val) single nucleotide variant Cardiovascular phenotype [RCV002373166]|Long QT syndrome [RCV003102478] Chr7:92022319 [GRCh38]
Chr7:91651633 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.391A>G (p.Thr131Ala) single nucleotide variant Cardiovascular phenotype [RCV002373172] Chr7:91992197 [GRCh38]
Chr7:91621511 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9052A>C (p.Ser3018Arg) single nucleotide variant Cardiovascular phenotype [RCV002378508] Chr7:92086255 [GRCh38]
Chr7:91715569 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9072T>G (p.Gly3024=) single nucleotide variant Cardiovascular phenotype [RCV002378566]|Long QT syndrome [RCV003533208] Chr7:92086275 [GRCh38]
Chr7:91715589 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2362G>A (p.Glu788Lys) single nucleotide variant Cardiovascular phenotype [RCV002450120]|Long QT syndrome [RCV003775209] Chr7:92002279 [GRCh38]
Chr7:91631593 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6801A>G (p.Glu2267=) single nucleotide variant Cardiovascular phenotype [RCV002369500]|Long QT syndrome [RCV003647902] Chr7:92077731 [GRCh38]
Chr7:91707045 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.952A>G (p.Asn318Asp) single nucleotide variant Cardiovascular phenotype [RCV002374232] Chr7:92000869 [GRCh38]
Chr7:91630183 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11296C>T (p.Arg3766Trp) single nucleotide variant Cardiovascular phenotype [RCV002325901]|not specified [RCV004587344] Chr7:92102792 [GRCh38]
Chr7:91732106 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1049A>G (p.Asp350Gly) single nucleotide variant Cardiovascular phenotype [RCV002400881] Chr7:92000966 [GRCh38]
Chr7:91630280 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8384C>T (p.Pro2795Leu) single nucleotide variant Cardiovascular phenotype [RCV002434832] Chr7:92083393 [GRCh38]
Chr7:91712707 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9256G>C (p.Asp3086His) single nucleotide variant Cardiovascular phenotype [RCV002371399] Chr7:92089427 [GRCh38]
Chr7:91718741 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5910A>G (p.Gln1970=) single nucleotide variant Cardiovascular phenotype [RCV002355756]|Long QT syndrome [RCV003098052] Chr7:92062419 [GRCh38]
Chr7:91691733 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11090C>T (p.Thr3697Ile) single nucleotide variant Cardiovascular phenotype [RCV002428731] Chr7:92101049 [GRCh38]
Chr7:91730363 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1587G>A (p.Gln529=) single nucleotide variant Cardiovascular phenotype [RCV002398348] Chr7:92001504 [GRCh38]
Chr7:91630818 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1588C>G (p.Leu530Val) single nucleotide variant Cardiovascular phenotype [RCV002398361] Chr7:92001505 [GRCh38]
Chr7:91630819 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1514C>T (p.Thr505Ile) single nucleotide variant Long QT syndrome [RCV002296569] Chr7:92001431 [GRCh38]
Chr7:91630745 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11687-10TC[2] microsatellite Cardiovascular phenotype [RCV002327854] Chr7:92110112..92110113 [GRCh38]
Chr7:91739426..91739427 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2377A>G (p.Ile793Val) single nucleotide variant Cardiovascular phenotype [RCV002450189] Chr7:92002294 [GRCh38]
Chr7:91631608 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2316A>T (p.Gln772His) single nucleotide variant Cardiovascular phenotype [RCV002428515] Chr7:92002233 [GRCh38]
Chr7:91631547 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9021C>G (p.Ala3007=) single nucleotide variant Cardiovascular phenotype [RCV002376440] Chr7:92085683 [GRCh38]
Chr7:91714997 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.961A>G (p.Lys321Glu) single nucleotide variant Cardiovascular phenotype [RCV002376467] Chr7:92000878 [GRCh38]
Chr7:91630192 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11298G>T (p.Arg3766=) single nucleotide variant Cardiovascular phenotype [RCV002325926] Chr7:92102794 [GRCh38]
Chr7:91732108 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6946-3T>C single nucleotide variant Cardiovascular phenotype [RCV002362443] Chr7:92079076 [GRCh38]
Chr7:91708390 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1685A>T (p.His562Leu) single nucleotide variant Cardiovascular phenotype [RCV002406079] Chr7:92001602 [GRCh38]
Chr7:91630916 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3449T>G (p.Leu1150Arg) single nucleotide variant Cardiovascular phenotype [RCV002457180] Chr7:92012559 [GRCh38]
Chr7:91641873 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2947T>G (p.Leu983Val) single nucleotide variant Cardiovascular phenotype [RCV002440235] Chr7:92002864 [GRCh38]
Chr7:91632178 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2948T>C (p.Leu983Ser) single nucleotide variant Cardiovascular phenotype [RCV002440243] Chr7:92002865 [GRCh38]
Chr7:91632179 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4046C>T (p.Ser1349Phe) single nucleotide variant Cardiovascular phenotype [RCV002321242] Chr7:92022907 [GRCh38]
Chr7:91652221 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.577-4T>G single nucleotide variant Cardiovascular phenotype [RCV002359679] Chr7:91994617 [GRCh38]
Chr7:91623931 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11267C>T (p.Thr3756Ile) single nucleotide variant Cardiovascular phenotype [RCV002438161] Chr7:92102763 [GRCh38]
Chr7:91732077 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2058C>T (p.Asp686=) single nucleotide variant Cardiovascular phenotype [RCV002421912] Chr7:92001975 [GRCh38]
Chr7:91631289 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.20A>C (p.Gln7Pro) single nucleotide variant Cardiovascular phenotype [RCV002424184] Chr7:91941119 [GRCh38]
Chr7:91570433 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3148G>A (p.Val1050Met) single nucleotide variant Cardiovascular phenotype [RCV002320778] Chr7:92003065 [GRCh38]
Chr7:91632379 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11626C>T (p.Leu3876=) single nucleotide variant Cardiovascular phenotype [RCV002359457] Chr7:92108573 [GRCh38]
Chr7:91737887 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7169T>C (p.Val2390Ala) single nucleotide variant Cardiovascular phenotype [RCV002378378]|Long QT syndrome [RCV003108053] Chr7:92079302 [GRCh38]
Chr7:91708616 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10327T>C (p.Phe3443Leu) single nucleotide variant Cardiovascular phenotype [RCV002396575] Chr7:92097286 [GRCh38]
Chr7:91726600 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.2447_2448del (p.Ser816fs) microsatellite Cardiovascular phenotype [RCV002455404] Chr7:92002362..92002363 [GRCh38]
Chr7:91631676..91631677 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5951A>C (p.Lys1984Thr) single nucleotide variant Cardiovascular phenotype [RCV002355991] Chr7:92062460 [GRCh38]
Chr7:91691774 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5991G>T (p.Glu1997Asp) single nucleotide variant Cardiovascular phenotype [RCV002357896] Chr7:92065244 [GRCh38]
Chr7:91694558 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4060T>C (p.Leu1354=) single nucleotide variant Cardiovascular phenotype [RCV002321396] Chr7:92022921 [GRCh38]
Chr7:91652235 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4216G>A (p.Val1406Met) single nucleotide variant Cardiovascular phenotype [RCV002327991] Chr7:92029962 [GRCh38]
Chr7:91659276 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.380C>G (p.Thr127Arg) single nucleotide variant Cardiovascular phenotype [RCV002355225] Chr7:91992186 [GRCh38]
Chr7:91621500 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3226C>T (p.Pro1076Ser) single nucleotide variant Cardiovascular phenotype [RCV002324702] Chr7:92003143 [GRCh38]
Chr7:91632457 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4744T>C (p.Leu1582=) single nucleotide variant Cardiovascular phenotype [RCV002335531]|Long QT syndrome [RCV003096450] Chr7:92040725 [GRCh38]
Chr7:91670039 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3230C>G (p.Ser1077Cys) single nucleotide variant Cardiovascular phenotype [RCV002324740] Chr7:92003147 [GRCh38]
Chr7:91632461 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3237A>T (p.Thr1079=) single nucleotide variant Cardiovascular phenotype [RCV002324763] Chr7:92003154 [GRCh38]
Chr7:91632468 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6551A>G (p.Glu2184Gly) single nucleotide variant Cardiovascular phenotype [RCV002364376] Chr7:92070948 [GRCh38]
Chr7:91700262 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6557C>G (p.Ser2186Cys) single nucleotide variant Cardiovascular phenotype [RCV002364387]|Long QT syndrome [RCV003098288] Chr7:92070954 [GRCh38]
Chr7:91700268 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9259A>G (p.Arg3087Gly) single nucleotide variant Cardiovascular phenotype [RCV002450069] Chr7:92089430 [GRCh38]
Chr7:91718744 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10040A>T (p.Glu3347Val) single nucleotide variant Cardiovascular phenotype [RCV002401216] Chr7:92096999 [GRCh38]
Chr7:91726313 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11280G>A (p.Lys3760=) single nucleotide variant Cardiovascular phenotype [RCV002319782] Chr7:92102776 [GRCh38]
Chr7:91732090 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5967A>G (p.Pro1989=) single nucleotide variant Cardiovascular phenotype [RCV002356060]|Long QT syndrome [RCV003098080] Chr7:92062476 [GRCh38]
Chr7:91691790 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.442C>G (p.Gln148Glu) single nucleotide variant Cardiovascular phenotype [RCV002333949] Chr7:91992921 [GRCh38]
Chr7:91622235 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1659A>G (p.Glu553=) single nucleotide variant Cardiovascular phenotype [RCV002403770]|Long QT syndrome [RCV003100776] Chr7:92001576 [GRCh38]
Chr7:91630890 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10250G>A (p.Arg3417His) single nucleotide variant Cardiovascular phenotype [RCV002380613] Chr7:92097209 [GRCh38]
Chr7:91726523 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3778C>A (p.Leu1260Ile) single nucleotide variant Long QT syndrome [RCV002297994] Chr7:92017043 [GRCh38]
Chr7:91646357 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4280A>G (p.Asn1427Ser) single nucleotide variant Long QT syndrome [RCV002297995] Chr7:92031546 [GRCh38]
Chr7:91660860 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11157G>T (p.Lys3719Asn) single nucleotide variant Cardiovascular phenotype [RCV002441455] Chr7:92102653 [GRCh38]
Chr7:91731967 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3311C>T (p.Ser1104Leu) single nucleotide variant Cardiovascular phenotype [RCV002326320] Chr7:92003228 [GRCh38]
Chr7:91632542 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3469A>G (p.Lys1157Glu) single nucleotide variant Cardiovascular phenotype [RCV002337495]|Long QT syndrome [RCV003533166] Chr7:92012579 [GRCh38]
Chr7:91641893 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9377T>C (p.Ile3126Thr) single nucleotide variant Cardiovascular phenotype [RCV002450109]|Long QT syndrome [RCV003094797] Chr7:92093115 [GRCh38]
Chr7:91722429 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4859G>A (p.Arg1620Gln) single nucleotide variant Cardiovascular phenotype [RCV002340320] Chr7:92040840 [GRCh38]
Chr7:91670154 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.307-5T>G single nucleotide variant Cardiovascular phenotype [RCV002319826]|Long QT syndrome [RCV003099172] Chr7:91980284 [GRCh38]
Chr7:91609598 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.752_755dup (p.Arg252fs) duplication Cardiovascular phenotype [RCV002393832] Chr7:91995621..91995622 [GRCh38]
Chr7:91624935..91624936 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9161C>T (p.Thr3054Ile) single nucleotide variant Cardiovascular phenotype [RCV002378840] Chr7:92086364 [GRCh38]
Chr7:91715678 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4284C>T (p.Ile1428=) single nucleotide variant Cardiovascular phenotype [RCV002330143] Chr7:92031550 [GRCh38]
Chr7:91660864 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4286T>C (p.Val1429Ala) single nucleotide variant Cardiovascular phenotype [RCV002330159] Chr7:92031552 [GRCh38]
Chr7:91660866 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3918A>T (p.Ser1306=) single nucleotide variant Cardiovascular phenotype [RCV002373159] Chr7:92022318 [GRCh38]
Chr7:91651632 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1242C>G (p.Phe414Leu) single nucleotide variant Cardiovascular phenotype [RCV002380360]|Long QT syndrome [RCV003098557] Chr7:92001159 [GRCh38]
Chr7:91630473 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11687-4A>G single nucleotide variant Cardiovascular phenotype [RCV002327851] Chr7:92110118 [GRCh38]
Chr7:91739432 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8183C>T (p.Ser2728Phe) single nucleotide variant Cardiovascular phenotype [RCV002427818] Chr7:92083192 [GRCh38]
Chr7:91712506 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7265A>G (p.Lys2422Arg) single nucleotide variant Cardiovascular phenotype [RCV002382553] Chr7:92079398 [GRCh38]
Chr7:91708712 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5243C>G (p.Thr1748Arg) single nucleotide variant Cardiovascular phenotype [RCV002340911]|Long QT syndrome [RCV003776070] Chr7:92045088 [GRCh38]
Chr7:91674402 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7472A>G (p.Lys2491Arg) single nucleotide variant Cardiovascular phenotype [RCV002391470] Chr7:92079605 [GRCh38]
Chr7:91708919 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2257_2258del (p.Glu753fs) deletion Cardiovascular phenotype [RCV002443643]|Long QT syndrome [RCV003533253] Chr7:92002173..92002174 [GRCh38]
Chr7:91631487..91631488 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.225A>G (p.Ser75=) single nucleotide variant Cardiovascular phenotype [RCV002443678] Chr7:91973887 [GRCh38]
Chr7:91603201 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9735G>A (p.Leu3245=) single nucleotide variant Cardiovascular phenotype [RCV002376740]|Long QT syndrome [RCV003103613] Chr7:92096694 [GRCh38]
Chr7:91726008 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5776G>A (p.Gly1926Ser) single nucleotide variant Cardiovascular phenotype [RCV002359684]|Long QT syndrome [RCV003647896] Chr7:92062285 [GRCh38]
Chr7:91691599 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9105A>G (p.Leu3035=) single nucleotide variant Cardiovascular phenotype [RCV002378657] Chr7:92086308 [GRCh38]
Chr7:91715622 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5058+4G>A single nucleotide variant Cardiovascular phenotype [RCV002335762] Chr7:92042190 [GRCh38]
Chr7:91671504 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.325A>G (p.Thr109Ala) single nucleotide variant Cardiovascular phenotype [RCV002324942]|Long QT syndrome [RCV003647873] Chr7:91980307 [GRCh38]
Chr7:91609621 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3331C>G (p.Leu1111Val) single nucleotide variant Cardiovascular phenotype [RCV002326498] Chr7:92012441 [GRCh38]
Chr7:91641755 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1968dup (p.Asp657fs) duplication Cardiovascular phenotype [RCV002423429] Chr7:92001882..92001883 [GRCh38]
Chr7:91631196..91631197 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8835A>T (p.Gly2945=) single nucleotide variant Cardiovascular phenotype [RCV002373787] Chr7:92085497 [GRCh38]
Chr7:91714811 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6592A>G (p.Ile2198Val) single nucleotide variant Cardiovascular phenotype [RCV002375809] Chr7:92070989 [GRCh38]
Chr7:91700303 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5856G>A (p.Leu1952=) single nucleotide variant Cardiovascular phenotype [RCV002353360] Chr7:92062365 [GRCh38]
Chr7:91691679 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11228T>G (p.Met3743Arg) single nucleotide variant Cardiovascular phenotype [RCV002441860]|Long QT syndrome [RCV003102913] Chr7:92102724 [GRCh38]
Chr7:91732038 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10627G>A (p.Asp3543Asn) single nucleotide variant Cardiovascular phenotype [RCV002410122] Chr7:92098128 [GRCh38]
Chr7:91727442 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10066C>A (p.His3356Asn) single nucleotide variant Cardiovascular phenotype [RCV002423415] Chr7:92097025 [GRCh38]
Chr7:91726339 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2917A>G (p.Ile973Val) single nucleotide variant Cardiovascular phenotype [RCV002439887] Chr7:92002834 [GRCh38]
Chr7:91632148 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4000A>G (p.Thr1334Ala) single nucleotide variant Cardiovascular phenotype [RCV002375663] Chr7:92022861 [GRCh38]
Chr7:91652175 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4350A>C (p.Ser1450=) single nucleotide variant Cardiovascular phenotype [RCV002332270] Chr7:92038430 [GRCh38]
Chr7:91667744 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11611G>T (p.Asp3871Tyr) single nucleotide variant Cardiovascular phenotype [RCV002375543]|Long QT syndrome [RCV003094468] Chr7:92108558 [GRCh38]
Chr7:91737872 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6026A>G (p.Gln2009Arg) single nucleotide variant Cardiovascular phenotype [RCV002358135]|Long QT syndrome [RCV003533187] Chr7:92065279 [GRCh38]
Chr7:91694593 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1383G>A (p.Glu461=) single nucleotide variant Cardiovascular phenotype [RCV002381217] Chr7:92001300 [GRCh38]
Chr7:91630614 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.179C>T (p.Ser60Leu) single nucleotide variant Cardiovascular phenotype [RCV002407846] Chr7:91973841 [GRCh38]
Chr7:91603155 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6298T>C (p.Phe2100Leu) single nucleotide variant Cardiovascular phenotype [RCV002353942] Chr7:92066514 [GRCh38]
Chr7:91695828 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.306+4_306+7del microsatellite Cardiovascular phenotype [RCV002444212] Chr7:91973967..91973970 [GRCh38]
Chr7:91603281..91603284 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7567A>G (p.Lys2523Glu) single nucleotide variant Cardiovascular phenotype [RCV002394045] Chr7:92079700 [GRCh38]
Chr7:91709014 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8238A>G (p.Lys2746=) single nucleotide variant Cardiovascular phenotype [RCV002428025] Chr7:92083247 [GRCh38]
Chr7:91712561 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1979G>T (p.Gly660Val) single nucleotide variant Cardiovascular phenotype [RCV002423637] Chr7:92001896 [GRCh38]
Chr7:91631210 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6585A>T (p.Arg2195=) single nucleotide variant Cardiovascular phenotype [RCV002375792] Chr7:92070982 [GRCh38]
Chr7:91700296 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10014del (p.Leu3339fs) deletion Cardiovascular phenotype [RCV002393980] Chr7:92096971 [GRCh38]
Chr7:91726285 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5099T>A (p.Phe1700Tyr) single nucleotide variant Cardiovascular phenotype [RCV002335968] Chr7:92042708 [GRCh38]
Chr7:91672022 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3041C>T (p.Thr1014Ile) single nucleotide variant Cardiovascular phenotype [RCV002444011] Chr7:92002958 [GRCh38]
Chr7:91632272 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7517G>A (p.Ser2506Asn) single nucleotide variant Cardiovascular phenotype [RCV002393803] Chr7:92079650 [GRCh38]
Chr7:91708964 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9082C>T (p.Leu3028Phe) single nucleotide variant Cardiovascular phenotype [RCV002449980] Chr7:92086285 [GRCh38]
Chr7:91715599 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6548C>G (p.Pro2183Arg) single nucleotide variant Cardiovascular phenotype [RCV002364338] Chr7:92070945 [GRCh38]
Chr7:91700259 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10506T>C (p.Asn3502=) single nucleotide variant Cardiovascular phenotype [RCV002401288] Chr7:92097693 [GRCh38]
Chr7:91727007 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1821G>C (p.Lys607Asn) single nucleotide variant Cardiovascular phenotype [RCV002410367] Chr7:92001738 [GRCh38]
Chr7:91631052 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6394A>G (p.Lys2132Glu) single nucleotide variant Cardiovascular phenotype [RCV002354105]|Long QT syndrome [RCV003098226] Chr7:92070093 [GRCh38]
Chr7:91699407 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7582C>T (p.Gln2528Ter) single nucleotide variant Cardiovascular phenotype [RCV002394126] Chr7:92079715 [GRCh38]
Chr7:91709029 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10231A>C (p.Lys3411Gln) single nucleotide variant Cardiovascular phenotype [RCV002376019] Chr7:92097190 [GRCh38]
Chr7:91726504 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4022A>G (p.Gln1341Arg) single nucleotide variant Cardiovascular phenotype [RCV002375736]|Long QT syndrome [RCV003108021] Chr7:92022883 [GRCh38]
Chr7:91652197 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.6458T>C (p.Val2153Ala) single nucleotide variant Cardiovascular phenotype [RCV002361875] Chr7:92070157 [GRCh38]
Chr7:91699471 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1864T>C (p.Leu622=) single nucleotide variant Cardiovascular phenotype [RCV002414981]|Long QT syndrome [RCV003121017] Chr7:92001781 [GRCh38]
Chr7:91631095 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5665G>A (p.Ala1889Thr) single nucleotide variant Cardiovascular phenotype [RCV002347334] Chr7:92061323 [GRCh38]
Chr7:91690637 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.209C>A (p.Ser70Tyr) single nucleotide variant Cardiovascular phenotype [RCV002424166] Chr7:91973871 [GRCh38]
Chr7:91603185 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8606G>T (p.Gly2869Val) single nucleotide variant Cardiovascular phenotype [RCV002448006] Chr7:92083615 [GRCh38]
Chr7:91712929 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9992G>A (p.Gly3331Asp) single nucleotide variant Cardiovascular phenotype [RCV002383047] Chr7:92096951 [GRCh38]
Chr7:91726265 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11679A>C (p.Ile3893=) single nucleotide variant Cardiovascular phenotype [RCV002333370] Chr7:92108626 [GRCh38]
Chr7:91737940 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4176A>G (p.Thr1392=) single nucleotide variant Cardiovascular phenotype [RCV002333429] Chr7:92029922 [GRCh38]
Chr7:91659236 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3470A>C (p.Lys1157Thr) single nucleotide variant Cardiovascular phenotype [RCV002457285] Chr7:92012580 [GRCh38]
Chr7:91641894 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11508T>C (p.Asp3836=) single nucleotide variant Cardiovascular phenotype [RCV002457431] Chr7:92107384 [GRCh38]
Chr7:91736698 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1442T>C (p.Ile481Thr) single nucleotide variant Cardiovascular phenotype [RCV002394387] Chr7:92001359 [GRCh38]
Chr7:91630673 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8206G>A (p.Val2736Ile) single nucleotide variant Cardiovascular phenotype [RCV002427950]|Long QT syndrome [RCV003103485] Chr7:92083215 [GRCh38]
Chr7:91712529 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.7573A>C (p.Met2525Leu) single nucleotide variant Cardiovascular phenotype [RCV002394085] Chr7:92079706 [GRCh38]
Chr7:91709020 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7582C>G (p.Gln2528Glu) single nucleotide variant Cardiovascular phenotype [RCV002394124]|Long QT syndrome [RCV003099689] Chr7:92079715 [GRCh38]
Chr7:91709029 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1783A>G (p.Asn595Asp) single nucleotide variant Cardiovascular phenotype [RCV002404128]|Long QT syndrome [RCV003097243] Chr7:92001700 [GRCh38]
Chr7:91631014 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10680A>G (p.Gln3560=) single nucleotide variant Cardiovascular phenotype [RCV002408273] Chr7:92098181 [GRCh38]
Chr7:91727495 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4604C>G (p.Pro1535Arg) single nucleotide variant Cardiovascular phenotype [RCV002342407] Chr7:92038684 [GRCh38]
Chr7:91667998 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4607A>C (p.His1536Pro) single nucleotide variant Cardiovascular phenotype [RCV002342415]|Long QT syndrome [RCV003094785] Chr7:92038687 [GRCh38]
Chr7:91668001 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.512T>C (p.Ile171Thr) single nucleotide variant Cardiovascular phenotype [RCV002344220] Chr7:91992991 [GRCh38]
Chr7:91622305 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5131G>C (p.Asp1711His) single nucleotide variant Cardiovascular phenotype [RCV002344230] Chr7:92042740 [GRCh38]
Chr7:91672054 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4390A>G (p.Ile1464Val) single nucleotide variant Cardiovascular phenotype [RCV002333649]|Long QT syndrome [RCV003094675] Chr7:92038470 [GRCh38]
Chr7:91667784 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8388A>G (p.Gln2796=) single nucleotide variant Cardiovascular phenotype [RCV002434836]|Long QT syndrome [RCV003647910] Chr7:92083397 [GRCh38]
Chr7:91712711 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10609C>T (p.Leu3537=) single nucleotide variant Cardiovascular phenotype [RCV002407731] Chr7:92098110 [GRCh38]
Chr7:91727424 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9021C>T (p.Ala3007=) single nucleotide variant Cardiovascular phenotype [RCV002376441]|Long QT syndrome [RCV003774148] Chr7:92085683 [GRCh38]
Chr7:91714997 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3094G>A (p.Glu1032Lys) single nucleotide variant Cardiovascular phenotype [RCV002325837] Chr7:92003011 [GRCh38]
Chr7:91632325 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6946-5A>G single nucleotide variant Cardiovascular phenotype [RCV002362444]|Long QT syndrome [RCV003647903] Chr7:92079074 [GRCh38]
Chr7:91708388 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.8972T>C (p.Ile2991Thr) single nucleotide variant Cardiovascular phenotype [RCV002376243] Chr7:92085634 [GRCh38]
Chr7:91714948 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1445C>T (p.Thr482Ile) single nucleotide variant Cardiovascular phenotype [RCV002394443] Chr7:92001362 [GRCh38]
Chr7:91630676 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4614A>G (p.Ile1538Met) single nucleotide variant Cardiovascular phenotype [RCV002342479]|Long QT syndrome [RCV003533177] Chr7:92038694 [GRCh38]
Chr7:91668008 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.4400G>C (p.Gly1467Ala) single nucleotide variant Cardiovascular phenotype [RCV002333755] Chr7:92038480 [GRCh38]
Chr7:91667794 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7316G>A (p.Ser2439Asn) single nucleotide variant Cardiovascular phenotype [RCV002380077] Chr7:92079449 [GRCh38]
Chr7:91708763 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4565G>A (p.Gly1522Glu) single nucleotide variant Cardiovascular phenotype [RCV002340220] Chr7:92038645 [GRCh38]
Chr7:91667959 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11564C>T (p.Ala3855Val) single nucleotide variant Cardiovascular phenotype [RCV002355395]|Long QT syndrome [RCV003094385] Chr7:92108511 [GRCh38]
Chr7:91737825 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11327C>G (p.Ser3776Cys) single nucleotide variant Cardiovascular phenotype [RCV002322912] Chr7:92102823 [GRCh38]
Chr7:91732137 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10590C>T (p.Pro3530=) single nucleotide variant Cardiovascular phenotype [RCV002401506] Chr7:92097777 [GRCh38]
Chr7:91727091 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4929A>G (p.Ile1643Met) single nucleotide variant Cardiovascular phenotype [RCV002340743] Chr7:92042057 [GRCh38]
Chr7:91671371 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4626G>C (p.Lys1542Asn) single nucleotide variant Cardiovascular phenotype [RCV002342533] Chr7:92038706 [GRCh38]
Chr7:91668020 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4626G>T (p.Lys1542Asn) single nucleotide variant Cardiovascular phenotype [RCV002342534] Chr7:92038706 [GRCh38]
Chr7:91668020 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4336A>C (p.Lys1446Gln) single nucleotide variant Cardiovascular phenotype [RCV002332154]|Long QT syndrome [RCV003775871] Chr7:92031602 [GRCh38]
Chr7:91660916 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11225G>A (p.Arg3742Gln) single nucleotide variant Cardiovascular phenotype [RCV002441835] Chr7:92102721 [GRCh38]
Chr7:91732035 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10223T>C (p.Leu3408Pro) single nucleotide variant Cardiovascular phenotype [RCV002412506] Chr7:92097182 [GRCh38]
Chr7:91726496 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8415A>G (p.Gln2805=) single nucleotide variant Cardiovascular phenotype [RCV002412606] Chr7:92083424 [GRCh38]
Chr7:91712738 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2810A>G (p.Asp937Gly) single nucleotide variant Cardiovascular phenotype [RCV002441698] Chr7:92002727 [GRCh38]
Chr7:91632041 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2815A>G (p.Thr939Ala) single nucleotide variant Cardiovascular phenotype [RCV002441745] Chr7:92002732 [GRCh38]
Chr7:91632046 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3938A>G (p.Asn1313Ser) single nucleotide variant Cardiovascular phenotype [RCV002373247] Chr7:92022338 [GRCh38]
Chr7:91651652 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4014A>G (p.Glu1338=) single nucleotide variant Cardiovascular phenotype [RCV002359433] Chr7:92022875 [GRCh38]
Chr7:91652189 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7309C>G (p.Arg2437Gly) single nucleotide variant Cardiovascular phenotype [RCV002380027] Chr7:92079442 [GRCh38]
Chr7:91708756 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4291T>C (p.Leu1431=) single nucleotide variant Cardiovascular phenotype [RCV002330222] Chr7:92031557 [GRCh38]
Chr7:91660871 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5699G>A (p.Arg1900Gln) single nucleotide variant Cardiovascular phenotype [RCV002347518]|Long QT syndrome [RCV003096844] Chr7:92061357 [GRCh38]
Chr7:91690671 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1875G>T (p.Leu625=) single nucleotide variant Cardiovascular phenotype [RCV002415183] Chr7:92001792 [GRCh38]
Chr7:91631106 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8757G>A (p.Gln2919=) single nucleotide variant Cardiovascular phenotype [RCV002373570] Chr7:92084865 [GRCh38]
Chr7:91714179 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11282G>T (p.Gly3761Val) single nucleotide variant Cardiovascular phenotype [RCV002319802] Chr7:92102778 [GRCh38]
Chr7:91732092 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4423A>C (p.Lys1475Gln) single nucleotide variant Cardiovascular phenotype [RCV002333913] Chr7:92038503 [GRCh38]
Chr7:91667817 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9824A>G (p.Gln3275Arg) single nucleotide variant Cardiovascular phenotype [RCV002376850] Chr7:92096783 [GRCh38]
Chr7:91726097 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10519G>A (p.Gly3507Ser) single nucleotide variant Cardiovascular phenotype [RCV002395008] Chr7:92097706 [GRCh38]
Chr7:91727020 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1838G>C (p.Arg613Thr) single nucleotide variant Cardiovascular phenotype [RCV002412769] Chr7:92001755 [GRCh38]
Chr7:91631069 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7506A>G (p.Leu2502=) single nucleotide variant Cardiovascular phenotype [RCV002391638] Chr7:92079639 [GRCh38]
Chr7:91708953 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4071T>C (p.Thr1357=) single nucleotide variant Cardiovascular phenotype [RCV002323053] Chr7:92022932 [GRCh38]
Chr7:91652246 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9808C>G (p.Leu3270Val) single nucleotide variant Cardiovascular phenotype [RCV002376803] Chr7:92096767 [GRCh38]
Chr7:91726081 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9829A>C (p.Ile3277Leu) single nucleotide variant Cardiovascular phenotype [RCV002376854] Chr7:92096788 [GRCh38]
Chr7:91726102 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3337A>G (p.Met1113Val) single nucleotide variant Cardiovascular phenotype [RCV002326536] Chr7:92012447 [GRCh38]
Chr7:91641761 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4230T>G (p.Ile1410Met) single nucleotide variant Cardiovascular phenotype [RCV002328124] Chr7:92029976 [GRCh38]
Chr7:91659290 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.7003A>T (p.Met2335Leu) single nucleotide variant Cardiovascular phenotype [RCV002364803] Chr7:92079136 [GRCh38]
Chr7:91708450 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4642_4643del (p.Ile1548fs) deletion Cardiovascular phenotype [RCV002342616] Chr7:92038721..92038722 [GRCh38]
Chr7:91668035..91668036 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.49-3T>C single nucleotide variant Cardiovascular phenotype [RCV002342682]|Long QT syndrome [RCV003096537] Chr7:91973708 [GRCh38]
Chr7:91603022 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5574A>G (p.Leu1858=) single nucleotide variant Cardiovascular phenotype [RCV002344710] Chr7:92052931 [GRCh38]
Chr7:91682245 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5985A>G (p.Leu1995=) single nucleotide variant Cardiovascular phenotype [RCV002356163] Chr7:92065238 [GRCh38]
Chr7:91694552 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11367A>G (p.Thr3789=) single nucleotide variant Cardiovascular phenotype [RCV002445729]|Long QT syndrome [RCV003647874] Chr7:92105714 [GRCh38]
Chr7:91735028 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5977+1G>T single nucleotide variant Cardiovascular phenotype [RCV002356105] Chr7:92062487 [GRCh38]
Chr7:91691801 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2188A>C (p.Ile730Leu) single nucleotide variant Cardiovascular phenotype [RCV002425512] Chr7:92002105 [GRCh38]
Chr7:91631419 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5772T>A (p.Ile1924=) single nucleotide variant Cardiovascular phenotype [RCV002359667] Chr7:92062281 [GRCh38]
Chr7:91691595 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4637del (p.Leu1546fs) deletion Cardiovascular phenotype [RCV002330419] Chr7:92038717 [GRCh38]
Chr7:91668031 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4959G>T (p.Glu1653Asp) single nucleotide variant Cardiovascular phenotype [RCV002342770] Chr7:92042087 [GRCh38]
Chr7:91671401 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4804C>T (p.Gln1602Ter) single nucleotide variant Cardiovascular phenotype [RCV002337900] Chr7:92040785 [GRCh38]
Chr7:91670099 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.480G>A (p.Met160Ile) single nucleotide variant Cardiovascular phenotype [RCV002337943] Chr7:91992959 [GRCh38]
Chr7:91622273 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.183G>A (p.Gln61=) single nucleotide variant Cardiovascular phenotype [RCV002412813]|Long QT syndrome [RCV003533238] Chr7:91973845 [GRCh38]
Chr7:91603159 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2582A>C (p.Tyr861Ser) single nucleotide variant Cardiovascular phenotype [RCV002426066] Chr7:92002499 [GRCh38]
Chr7:91631813 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4679T>C (p.Ile1560Thr) single nucleotide variant Cardiovascular phenotype [RCV002335188] Chr7:92038759 [GRCh38]
Chr7:91668073 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4668T>A (p.Asp1556Glu) single nucleotide variant Cardiovascular phenotype [RCV002330499] Chr7:92038748 [GRCh38]
Chr7:91668062 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2981G>A (p.Cys994Tyr) single nucleotide variant Cardiovascular phenotype [RCV002442221] Chr7:92002898 [GRCh38]
Chr7:91632212 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6488G>A (p.Ser2163Asn) single nucleotide variant Cardiovascular phenotype [RCV002356231] Chr7:92070187 [GRCh38]
Chr7:91699501 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.215G>C (p.Arg72Thr) single nucleotide variant Cardiovascular phenotype [RCV002432574] Chr7:91973877 [GRCh38]
Chr7:91603191 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4683T>C (p.Val1561=) single nucleotide variant Cardiovascular phenotype [RCV002335215] Chr7:92038763 [GRCh38]
Chr7:91668077 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10294G>T (p.Glu3432Ter) single nucleotide variant Cardiovascular phenotype [RCV002387631] Chr7:92097253 [GRCh38]
Chr7:91726567 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2389G>T (p.Val797Phe) single nucleotide variant Cardiovascular phenotype [RCV002459543]|Long QT syndrome [RCV003101776] Chr7:92002306 [GRCh38]
Chr7:91631620 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4686_4689del (p.Arg1562fs) deletion Cardiovascular phenotype [RCV002335221]|Long QT syndrome [RCV003647886] Chr7:92038764..92038767 [GRCh38]
Chr7:91668078..91668081 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10994C>A (p.Ser3665Tyr) single nucleotide variant Cardiovascular phenotype [RCV002455397] Chr7:92100953 [GRCh38]
Chr7:91730267 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9442A>G (p.Thr3148Ala) single nucleotide variant Cardiovascular phenotype [RCV002374015] Chr7:92093180 [GRCh38]
Chr7:91722494 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6121G>A (p.Glu2041Lys) single nucleotide variant Cardiovascular phenotype [RCV002360285] Chr7:92065374 [GRCh38]
Chr7:91694688 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6148G>A (p.Asp2050Asn) single nucleotide variant Cardiovascular phenotype [RCV002360409] Chr7:92065401 [GRCh38]
Chr7:91694715 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.72A>G (p.Lys24=) single nucleotide variant Cardiovascular phenotype [RCV002382749] Chr7:91973734 [GRCh38]
Chr7:91603048 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7700A>T (p.Tyr2567Phe) single nucleotide variant Cardiovascular phenotype [RCV002400599]|Long QT syndrome [RCV003776429] Chr7:92079833 [GRCh38]
Chr7:91709147 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7702G>A (p.Ala2568Thr) single nucleotide variant Cardiovascular phenotype [RCV002400600] Chr7:92079835 [GRCh38]
Chr7:91709149 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.5649T>C (p.Phe1883=) single nucleotide variant Cardiovascular phenotype [RCV002345153] Chr7:92061307 [GRCh38]
Chr7:91690621 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3145A>C (p.Met1049Leu) single nucleotide variant Cardiovascular phenotype [RCV002320754] Chr7:92003062 [GRCh38]
Chr7:91632376 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7050G>A (p.Glu2350=) single nucleotide variant Cardiovascular phenotype [RCV002378308] Chr7:92079183 [GRCh38]
Chr7:91708497 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7168G>C (p.Val2390Leu) single nucleotide variant Cardiovascular phenotype [RCV002378375] Chr7:92079301 [GRCh38]
Chr7:91708615 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5162+1G>A single nucleotide variant Cardiovascular phenotype [RCV002338323] Chr7:92042772 [GRCh38]
Chr7:91672086 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5163G>A (p.Arg1721=) single nucleotide variant Cardiovascular phenotype [RCV002338332] Chr7:92045008 [GRCh38]
Chr7:91674322 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.781G>A (p.Ala261Thr) single nucleotide variant Cardiovascular phenotype [RCV002409988] Chr7:91995651 [GRCh38]
Chr7:91624965 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7821A>T (p.Arg2607Ser) single nucleotide variant Cardiovascular phenotype [RCV002409995]|Long QT syndrome [RCV003103443] Chr7:92079954 [GRCh38]
Chr7:91709268 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1718C>G (p.Ala573Gly) single nucleotide variant Cardiovascular phenotype [RCV002398991] Chr7:92001635 [GRCh38]
Chr7:91630949 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.483A>G (p.Glu161=) single nucleotide variant Cardiovascular phenotype [RCV002338112]|Long QT syndrome [RCV003096489] Chr7:91992962 [GRCh38]
Chr7:91622276 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.992T>C (p.Ile331Thr) single nucleotide variant Cardiovascular phenotype [RCV002382861]|Long QT syndrome [RCV003533221] Chr7:92000909 [GRCh38]
Chr7:91630223 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4787G>A (p.Arg1596Gln) single nucleotide variant Cardiovascular phenotype [RCV002330700]|not provided [RCV004725238] Chr7:92040768 [GRCh38]
Chr7:91670082 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1946G>A (p.Arg649Gln) single nucleotide variant Cardiovascular phenotype [RCV002413263]|Long QT syndrome [RCV003097372] Chr7:92001863 [GRCh38]
Chr7:91631177 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1637G>A (p.Arg546Lys) single nucleotide variant Cardiovascular phenotype [RCV002403481] Chr7:92001554 [GRCh38]
Chr7:91630868 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.905A>G (p.Gln302Arg) single nucleotide variant Cardiovascular phenotype [RCV002378515] Chr7:91995775 [GRCh38]
Chr7:91625089 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10626A>G (p.Ala3542=) single nucleotide variant Cardiovascular phenotype [RCV002410112] Chr7:92098127 [GRCh38]
Chr7:91727441 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4577A>C (p.Lys1526Thr) single nucleotide variant Cardiovascular phenotype [RCV002342164] Chr7:92038657 [GRCh38]
Chr7:91667971 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4577A>G (p.Lys1526Arg) single nucleotide variant Cardiovascular phenotype [RCV002342165] Chr7:92038657 [GRCh38]
Chr7:91667971 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1183A>C (p.Lys395Gln) single nucleotide variant Cardiovascular phenotype [RCV002335437]|Long QT syndrome [RCV003096443] Chr7:92001100 [GRCh38]
Chr7:91630414 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2506T>C (p.Cys836Arg) single nucleotide variant Cardiovascular phenotype [RCV002455644]|Long QT syndrome [RCV003647931] Chr7:92002423 [GRCh38]
Chr7:91631737 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4692T>G (p.Ser1564=) single nucleotide variant Cardiovascular phenotype [RCV002335263] Chr7:92038772 [GRCh38]
Chr7:91668086 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10573A>G (p.Lys3525Glu) single nucleotide variant Cardiovascular phenotype [RCV002399079] Chr7:92097760 [GRCh38]
Chr7:91727074 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9966G>A (p.Leu3322=) single nucleotide variant Cardiovascular phenotype [RCV002382963] Chr7:92096925 [GRCh38]
Chr7:91726239 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11666G>A (p.Arg3889Gln) single nucleotide variant Cardiovascular phenotype [RCV002333154] Chr7:92108613 [GRCh38]
Chr7:91737927 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10706G>T (p.Gly3569Val) single nucleotide variant Cardiovascular phenotype [RCV002413297] Chr7:92098207 [GRCh38]
Chr7:91727521 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4995G>T (p.Gln1665His) single nucleotide variant Long QT syndrome [RCV002299557] Chr7:92042123 [GRCh38]
Chr7:91671437 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3465G>A (p.Glu1155=) single nucleotide variant Cardiovascular phenotype [RCV002460236] Chr7:92012575 [GRCh38]
Chr7:91641889 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1081G>T (p.Glu361Ter) single nucleotide variant Cardiovascular phenotype [RCV002430595] Chr7:92000998 [GRCh38]
Chr7:91630312 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1464A>G (p.Ile488Met) single nucleotide variant Cardiovascular phenotype [RCV002396784] Chr7:92001381 [GRCh38]
Chr7:91630695 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6578C>A (p.Ala2193Asp) single nucleotide variant Cardiovascular phenotype [RCV002364474] Chr7:92070975 [GRCh38]
Chr7:91700289 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11686+4C>T single nucleotide variant Cardiovascular phenotype [RCV002327841] Chr7:92108637 [GRCh38]
Chr7:91737951 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1170T>G (p.Ser390=) single nucleotide variant Cardiovascular phenotype [RCV002331932] Chr7:92001087 [GRCh38]
Chr7:91630401 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7186C>G (p.Leu2396Val) single nucleotide variant Cardiovascular phenotype [RCV002370755] Chr7:92079319 [GRCh38]
Chr7:91708633 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4034G>A (p.Ser1345Asn) single nucleotide variant Cardiovascular phenotype [RCV002321182] Chr7:92022895 [GRCh38]
Chr7:91652209 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11610C>T (p.Tyr3870=) single nucleotide variant Cardiovascular phenotype [RCV002357733]|Long QT syndrome [RCV003533172] Chr7:92108557 [GRCh38]
Chr7:91737871 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2759A>G (p.Asp920Gly) single nucleotide variant Cardiovascular phenotype [RCV002439449]|Long QT syndrome [RCV003647934] Chr7:92002676 [GRCh38]
Chr7:91631990 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2767T>A (p.Phe923Ile) single nucleotide variant Cardiovascular phenotype [RCV002439565] Chr7:92002684 [GRCh38]
Chr7:91631998 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1394C>T (p.Thr465Ile) single nucleotide variant Cardiovascular phenotype [RCV002389073]|Long QT syndrome [RCV003095080]|not provided [RCV003481298] Chr7:92001311 [GRCh38]
Chr7:91630625 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8539A>G (p.Ile2847Val) single nucleotide variant Cardiovascular phenotype [RCV002414444] Chr7:92083548 [GRCh38]
Chr7:91712862 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5894A>T (p.Glu1965Val) single nucleotide variant Cardiovascular phenotype [RCV002353596] Chr7:92062403 [GRCh38]
Chr7:91691717 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11637T>C (p.Tyr3879=) single nucleotide variant Cardiovascular phenotype [RCV002321336] Chr7:92108584 [GRCh38]
Chr7:91737898 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10006C>T (p.Arg3336Trp) single nucleotide variant Cardiovascular phenotype [RCV002324981] Chr7:92096965 [GRCh38]
Chr7:91726279 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9134T>C (p.Phe3045Ser) single nucleotide variant Cardiovascular phenotype [RCV002378749] Chr7:92086337 [GRCh38]
Chr7:91715651 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4339-4T>C single nucleotide variant Cardiovascular phenotype [RCV002332170] Chr7:92038415 [GRCh38]
Chr7:91667729 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.462G>T (p.Pro154=) single nucleotide variant Cardiovascular phenotype [RCV002342564] Chr7:91992941 [GRCh38]
Chr7:91622255 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5891C>T (p.Ala1964Val) single nucleotide variant Cardiovascular phenotype [RCV002353587] Chr7:92062400 [GRCh38]
Chr7:91691714 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3635A>G (p.Glu1212Gly) single nucleotide variant Cardiovascular phenotype [RCV002460341] Chr7:92016151 [GRCh38]
Chr7:91645465 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2781A>G (p.Thr927=) single nucleotide variant Cardiovascular phenotype [RCV002439737] Chr7:92002698 [GRCh38]
Chr7:91632012 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3564T>G (p.Ile1188Met) single nucleotide variant Long QT syndrome [RCV002296125] Chr7:92014280 [GRCh38]
Chr7:91643594 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2517A>G (p.Leu839=) single nucleotide variant Cardiovascular phenotype [RCV002432994] Chr7:92002434 [GRCh38]
Chr7:91631748 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2849G>A (p.Arg950Gln) single nucleotide variant Long QT syndrome [RCV002993711] Chr7:92002766 [GRCh38]
Chr7:91632080 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10073G>A (p.Arg3358His) single nucleotide variant Cardiovascular phenotype [RCV004064757]|Long QT syndrome [RCV002776076] Chr7:92097032 [GRCh38]
Chr7:91726346 [GRCh37]
Chr7:7q21.2		 benign|uncertain significance
NM_005751.5(AKAP9):c.1036C>G (p.Leu346Val) single nucleotide variant Long QT syndrome [RCV002839212] Chr7:92000953 [GRCh38]
Chr7:91630267 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9359-14C>A single nucleotide variant Long QT syndrome [RCV003075270] Chr7:92093083 [GRCh38]
Chr7:91722397 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1536C>A (p.Leu512=) single nucleotide variant Long QT syndrome [RCV002881592] Chr7:92001453 [GRCh38]
Chr7:91630767 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10233A>G (p.Lys3411=) single nucleotide variant Long QT syndrome [RCV003014571] Chr7:92097192 [GRCh38]
Chr7:91726506 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3689C>G (p.Ser1230Cys) single nucleotide variant Long QT syndrome [RCV002775608] Chr7:92016205 [GRCh38]
Chr7:91645519 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3707A>G (p.Glu1236Gly) single nucleotide variant Cardiovascular phenotype [RCV004158496] Chr7:92016223 [GRCh38]
Chr7:91645537 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11097+12C>T single nucleotide variant Long QT syndrome [RCV002775547] Chr7:92101068 [GRCh38]
Chr7:91730382 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1405G>A (p.Gly469Arg) single nucleotide variant Long QT syndrome [RCV002727252] Chr7:92001322 [GRCh38]
Chr7:91630636 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4148+15A>G single nucleotide variant Long QT syndrome [RCV003015693] Chr7:92023024 [GRCh38]
Chr7:91652338 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8794A>C (p.Ser2932Arg) single nucleotide variant Long QT syndrome [RCV002972032] Chr7:92084902 [GRCh38]
Chr7:91714216 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1138C>G (p.Leu380Val) single nucleotide variant Cardiovascular phenotype [RCV003161754]|Long QT syndrome [RCV003076074] Chr7:92001055 [GRCh38]
Chr7:91630369 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5134G>A (p.Val1712Met) single nucleotide variant Long QT syndrome [RCV003076888] Chr7:92042743 [GRCh38]
Chr7:91672057 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.802C>G (p.Gln268Glu) single nucleotide variant Long QT syndrome [RCV003013439] Chr7:91995672 [GRCh38]
Chr7:91624986 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2151G>A (p.Met717Ile) single nucleotide variant Cardiovascular phenotype [RCV004116860] Chr7:92002068 [GRCh38]
Chr7:91631382 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.9928C>T (p.Arg3310Trp) single nucleotide variant Long QT syndrome [RCV002776202] Chr7:92096887 [GRCh38]
Chr7:91726201 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6331-10T>G single nucleotide variant Long QT syndrome [RCV002972325] Chr7:92070020 [GRCh38]
Chr7:91699334 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7357G>A (p.Val2453Met) single nucleotide variant Long QT syndrome [RCV002795057] Chr7:92079490 [GRCh38]
Chr7:91708804 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.863A>G (p.Gln288Arg) single nucleotide variant Long QT syndrome [RCV003011648] Chr7:91995733 [GRCh38]
Chr7:91625047 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1233C>T (p.Asp411=) single nucleotide variant Long QT syndrome [RCV002730469] Chr7:92001150 [GRCh38]
Chr7:91630464 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3767T>G (p.Met1256Arg) single nucleotide variant Long QT syndrome [RCV002975533] Chr7:92017032 [GRCh38]
Chr7:91646346 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7528G>T (p.Ala2510Ser) single nucleotide variant Cardiovascular phenotype [RCV004108568] Chr7:92079661 [GRCh38]
Chr7:91708975 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6067G>A (p.Val2023Met) single nucleotide variant Long QT syndrome [RCV002838658] Chr7:92065320 [GRCh38]
Chr7:91694634 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4143G>T (p.Pro1381=) single nucleotide variant Long QT syndrome [RCV003013244] Chr7:92023004 [GRCh38]
Chr7:91652318 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1811A>G (p.Glu604Gly) single nucleotide variant Long QT syndrome [RCV002993858] Chr7:92001728 [GRCh38]
Chr7:91631042 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8491A>G (p.Met2831Val) single nucleotide variant Long QT syndrome [RCV002815962] Chr7:92083500 [GRCh38]
Chr7:91712814 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6088G>C (p.Val2030Leu) single nucleotide variant Cardiovascular phenotype [RCV003161726]|Long QT syndrome [RCV003075268] Chr7:92065341 [GRCh38]
Chr7:91694655 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10607+13T>C single nucleotide variant Long QT syndrome [RCV002751265] Chr7:92097807 [GRCh38]
Chr7:91727121 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5039A>G (p.Asn1680Ser) single nucleotide variant Cardiovascular phenotype [RCV003383004]|Long QT syndrome [RCV003073768] Chr7:92042167 [GRCh38]
Chr7:91671481 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.2787A>C (p.Glu929Asp) single nucleotide variant Cardiovascular phenotype [RCV004108544] Chr7:92002704 [GRCh38]
Chr7:91632018 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.547del (p.Val183fs) deletion Cardiovascular phenotype [RCV003167693]|Long QT syndrome [RCV002730937] Chr7:91993024 [GRCh38]
Chr7:91622338 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.687A>G (p.Leu229=) single nucleotide variant Cardiovascular phenotype [RCV003294472]|Long QT syndrome [RCV003075646] Chr7:91994731 [GRCh38]
Chr7:91624045 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10589C>T (p.Pro3530Leu) single nucleotide variant Long QT syndrome [RCV002613497] Chr7:92097776 [GRCh38]
Chr7:91727090 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11407C>A (p.Leu3803Met) single nucleotide variant Long QT syndrome [RCV003013217] Chr7:92105754 [GRCh38]
Chr7:91735068 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.463A>T (p.Thr155Ser) single nucleotide variant Long QT syndrome [RCV002842511] Chr7:91992942 [GRCh38]
Chr7:91622256 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.719T>C (p.Ile240Thr) single nucleotide variant Long QT syndrome [RCV002907798] Chr7:91994763 [GRCh38]
Chr7:91624077 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11687-8T>C single nucleotide variant Long QT syndrome [RCV003034367] Chr7:92110114 [GRCh38]
Chr7:91739428 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9409C>G (p.Gln3137Glu) single nucleotide variant Long QT syndrome [RCV002755941] Chr7:92093147 [GRCh38]
Chr7:91722461 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10607+18G>T single nucleotide variant Long QT syndrome [RCV003081329] Chr7:92097812 [GRCh38]
Chr7:91727126 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6210+10C>T single nucleotide variant Long QT syndrome [RCV003022012] Chr7:92065473 [GRCh38]
Chr7:91694787 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1711T>A (p.Leu571Met) single nucleotide variant Long QT syndrome [RCV003055745] Chr7:92001628 [GRCh38]
Chr7:91630942 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2612T>C (p.Leu871Pro) single nucleotide variant Long QT syndrome [RCV002825004] Chr7:92002529 [GRCh38]
Chr7:91631843 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.48+14A>T single nucleotide variant Long QT syndrome [RCV002623046] Chr7:91941161 [GRCh38]
Chr7:91570475 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1320G>A (p.Met440Ile) single nucleotide variant Long QT syndrome [RCV003039247] Chr7:92001237 [GRCh38]
Chr7:91630551 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3418G>A (p.Asp1140Asn) single nucleotide variant Long QT syndrome [RCV002825592] Chr7:92012528 [GRCh38]
Chr7:91641842 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6851C>T (p.Ala2284Val) single nucleotide variant Long QT syndrome [RCV002825600] Chr7:92077781 [GRCh38]
Chr7:91707095 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1194G>A (p.Met398Ile) single nucleotide variant Long QT syndrome [RCV003081745] Chr7:92001111 [GRCh38]
Chr7:91630425 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3881A>G (p.Glu1294Gly) single nucleotide variant Long QT syndrome [RCV002658924] Chr7:92022281 [GRCh38]
Chr7:91651595 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9844A>T (p.Met3282Leu) single nucleotide variant Long QT syndrome [RCV002953463] Chr7:92096803 [GRCh38]
Chr7:91726117 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9149C>G (p.Thr3050Arg) single nucleotide variant Cardiovascular phenotype [RCV004140079]|Long QT syndrome [RCV003647944] Chr7:92086352 [GRCh38]
Chr7:91715666 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9267T>A (p.Ser3089Arg) single nucleotide variant Long QT syndrome [RCV003053754] Chr7:92089438 [GRCh38]
Chr7:91718752 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4787G>T (p.Arg1596Leu) single nucleotide variant Long QT syndrome [RCV003038117] Chr7:92040768 [GRCh38]
Chr7:91670082 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1438A>G (p.Asn480Asp) single nucleotide variant Cardiovascular phenotype [RCV003308143]|Long QT syndrome [RCV002571861] Chr7:92001355 [GRCh38]
Chr7:91630669 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.931-8dup duplication Long QT syndrome [RCV002640266] Chr7:92000832..92000833 [GRCh38]
Chr7:91630146..91630147 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.9729G>A (p.Glu3243=) single nucleotide variant Long QT syndrome [RCV002623123] Chr7:92095173 [GRCh38]
Chr7:91724487 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9401T>C (p.Leu3134Pro) single nucleotide variant Long QT syndrome [RCV003078898] Chr7:92093139 [GRCh38]
Chr7:91722453 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2673T>C (p.Ser891=) single nucleotide variant Long QT syndrome [RCV003079727] Chr7:92002590 [GRCh38]
Chr7:91631904 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6344C>A (p.Ala2115Glu) single nucleotide variant Long QT syndrome [RCV003054044] Chr7:92070043 [GRCh38]
Chr7:91699357 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6300C>G (p.Phe2100Leu) single nucleotide variant Long QT syndrome [RCV003053753] Chr7:92066516 [GRCh38]
Chr7:91695830 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1247C>T (p.Thr416Ile) single nucleotide variant Long QT syndrome [RCV002795279] Chr7:92001164 [GRCh38]
Chr7:91630478 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10997T>G (p.Leu3666Trp) single nucleotide variant Long QT syndrome [RCV002999123] Chr7:92100956 [GRCh38]
Chr7:91730270 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5555C>G (p.Ala1852Gly) single nucleotide variant Cardiovascular phenotype [RCV004178024]|Long QT syndrome [RCV003533807] Chr7:92052912 [GRCh38]
Chr7:91682226 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8161-13C>T single nucleotide variant Long QT syndrome [RCV002949219] Chr7:92083157 [GRCh38]
Chr7:91712471 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8161G>C (p.Val2721Leu) single nucleotide variant Cardiovascular phenotype [RCV004064724]|Long QT syndrome [RCV002780760] Chr7:92083170 [GRCh38]
Chr7:91712484 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7173T>C (p.Val2391=) single nucleotide variant Long QT syndrome [RCV002780663] Chr7:92079306 [GRCh38]
Chr7:91708620 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10154A>G (p.Gln3385Arg) single nucleotide variant Long QT syndrome [RCV002886601] Chr7:92097113 [GRCh38]
Chr7:91726427 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6330+7A>G single nucleotide variant Long QT syndrome [RCV002760924]|not provided [RCV004598217] Chr7:92066553 [GRCh38]
Chr7:91695867 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.669G>A (p.Glu223=) single nucleotide variant Long QT syndrome [RCV002949025] Chr7:91994713 [GRCh38]
Chr7:91624027 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10081G>A (p.Glu3361Lys) single nucleotide variant Long QT syndrome [RCV002736454] Chr7:92097040 [GRCh38]
Chr7:91726354 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.387G>A (p.Lys129=) single nucleotide variant Long QT syndrome [RCV003036496] Chr7:91992193 [GRCh38]
Chr7:91621507 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9359-16dup duplication Long QT syndrome [RCV002820173] Chr7:92093079..92093080 [GRCh38]
Chr7:91722393..91722394 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1200A>G (p.Thr400=) single nucleotide variant Long QT syndrome [RCV002999471] Chr7:92001117 [GRCh38]
Chr7:91630431 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8160+17A>G single nucleotide variant Long QT syndrome [RCV002690613] Chr7:92082679 [GRCh38]
Chr7:91711993 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8949G>C (p.Glu2983Asp) single nucleotide variant Long QT syndrome [RCV002780665] Chr7:92085611 [GRCh38]
Chr7:91714925 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8748A>T (p.Thr2916=) single nucleotide variant Long QT syndrome [RCV003077703] Chr7:92084856 [GRCh38]
Chr7:91714170 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2016T>C (p.Asn672=) single nucleotide variant Cardiovascular phenotype [RCV003382940]|Long QT syndrome [RCV002796317] Chr7:92001933 [GRCh38]
Chr7:91631247 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11543A>G (p.Asn3848Ser) single nucleotide variant Long QT syndrome [RCV002659419] Chr7:92107419 [GRCh38]
Chr7:91736733 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7965A>G (p.Lys2655=) single nucleotide variant Long QT syndrome [RCV003080166] Chr7:92080098 [GRCh38]
Chr7:91709412 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.228T>A (p.Thr76=) single nucleotide variant Long QT syndrome [RCV002953090] Chr7:91973890 [GRCh38]
Chr7:91603204 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1775A>C (p.Glu592Ala) single nucleotide variant Cardiovascular phenotype [RCV004632148]|Long QT syndrome [RCV003020695] Chr7:92001692 [GRCh38]
Chr7:91631006 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9258T>C (p.Asp3086=) single nucleotide variant Long QT syndrome [RCV002867207] Chr7:92089429 [GRCh38]
Chr7:91718743 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7346A>G (p.Asn2449Ser) single nucleotide variant Long QT syndrome [RCV002926948] Chr7:92079479 [GRCh38]
Chr7:91708793 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.82G>A (p.Asp28Asn) single nucleotide variant Long QT syndrome [RCV002927315] Chr7:91973744 [GRCh38]
Chr7:91603058 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5058+18C>A single nucleotide variant Long QT syndrome [RCV002949216] Chr7:92042204 [GRCh38]
Chr7:91671518 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.732+11C>G single nucleotide variant Long QT syndrome [RCV002886383] Chr7:91994787 [GRCh38]
Chr7:91624101 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5112A>G (p.Glu1704=) single nucleotide variant Long QT syndrome [RCV002735901] Chr7:92042721 [GRCh38]
Chr7:91672035 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3460C>A (p.Gln1154Lys) single nucleotide variant Long QT syndrome [RCV002976703] Chr7:92012570 [GRCh38]
Chr7:91641884 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9462G>A (p.Leu3154=) single nucleotide variant Long QT syndrome [RCV002592259] Chr7:92093200 [GRCh38]
Chr7:91722514 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10841T>C (p.Met3614Thr) single nucleotide variant Long QT syndrome [RCV003036769] Chr7:92099814 [GRCh38]
Chr7:91729128 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6331-9A>G single nucleotide variant Long QT syndrome [RCV002913786] Chr7:92070021 [GRCh38]
Chr7:91699335 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5162+3A>G single nucleotide variant Long QT syndrome [RCV003036826] Chr7:92042774 [GRCh38]
Chr7:91672088 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.938A>G (p.Asp313Gly) single nucleotide variant Long QT syndrome [RCV003078792] Chr7:92000855 [GRCh38]
Chr7:91630169 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3991C>T (p.Leu1331Phe) single nucleotide variant Long QT syndrome [RCV002796930] Chr7:92022852 [GRCh38]
Chr7:91652166 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3411T>A (p.Asn1137Lys) single nucleotide variant Cardiovascular phenotype [RCV004180138] Chr7:92012521 [GRCh38]
Chr7:91641835 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11194T>A (p.Cys3732Ser) single nucleotide variant Long QT syndrome [RCV002928353] Chr7:92102690 [GRCh38]
Chr7:91732004 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2183T>C (p.Ile728Thr) single nucleotide variant Long QT syndrome [RCV002805652] Chr7:92002100 [GRCh38]
Chr7:91631414 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9626C>T (p.Thr3209Ile) single nucleotide variant Cardiovascular phenotype [RCV004146493] Chr7:92095070 [GRCh38]
Chr7:91724384 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2694A>C (p.Glu898Asp) single nucleotide variant Long QT syndrome [RCV003043663] Chr7:92002611 [GRCh38]
Chr7:91631925 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4724A>G (p.Asp1575Gly) single nucleotide variant Long QT syndrome [RCV002805679] Chr7:92040705 [GRCh38]
Chr7:91670019 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.845A>C (p.His282Pro) single nucleotide variant Cardiovascular phenotype [RCV004064723]|Long QT syndrome [RCV002805241] Chr7:91995715 [GRCh38]
Chr7:91625029 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7576C>G (p.Gln2526Glu) single nucleotide variant Cardiovascular phenotype [RCV004143033] Chr7:92079709 [GRCh38]
Chr7:91709023 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5602-10C>T single nucleotide variant Long QT syndrome [RCV002572442] Chr7:92061250 [GRCh38]
Chr7:91690564 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3319-7_3319-3del deletion Long QT syndrome [RCV002895117] Chr7:92012418..92012422 [GRCh38]
Chr7:91641732..91641736 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3968G>A (p.Ser1323Asn) single nucleotide variant Long QT syndrome [RCV002572518] Chr7:92022829 [GRCh38]
Chr7:91652143 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2435A>T (p.Lys812Ile) single nucleotide variant Cardiovascular phenotype [RCV004066620]|Long QT syndrome [RCV002627218] Chr7:92002352 [GRCh38]
Chr7:91631666 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5977+20G>T single nucleotide variant Long QT syndrome [RCV002576317] Chr7:92062506 [GRCh38]
Chr7:91691820 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3752-12T>C single nucleotide variant Long QT syndrome [RCV002576349] Chr7:92017005 [GRCh38]
Chr7:91646319 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2447C>G (p.Ser816Cys) single nucleotide variant Cardiovascular phenotype [RCV004150336] Chr7:92002364 [GRCh38]
Chr7:91631678 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3837+5G>A single nucleotide variant Long QT syndrome [RCV002830186] Chr7:92017107 [GRCh38]
Chr7:91646421 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5704C>T (p.Arg1902Cys) single nucleotide variant Cardiovascular phenotype [RCV004632146]|Long QT syndrome [RCV003004992] Chr7:92061362 [GRCh38]
Chr7:91690676 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2331T>C (p.Asn777=) single nucleotide variant Cardiovascular phenotype [RCV004068609]|Long QT syndrome [RCV003022153] Chr7:92002248 [GRCh38]
Chr7:91631562 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8367T>C (p.Ser2789=) single nucleotide variant Long QT syndrome [RCV003085750] Chr7:92083376 [GRCh38]
Chr7:91712690 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1588C>T (p.Leu530Phe) single nucleotide variant Cardiovascular phenotype [RCV004117064] Chr7:92001505 [GRCh38]
Chr7:91630819 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5977+4_5977+7del deletion Long QT syndrome [RCV002957689] Chr7:92062487..92062490 [GRCh38]
Chr7:91691801..91691804 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9873A>T (p.Glu3291Asp) single nucleotide variant Long QT syndrome [RCV002932679] Chr7:92096832 [GRCh38]
Chr7:91726146 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5593A>G (p.Ser1865Gly) single nucleotide variant Long QT syndrome [RCV002872680] Chr7:92052950 [GRCh38]
Chr7:91682264 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6946-3_6946-1del deletion Long QT syndrome [RCV002872682] Chr7:92079076..92079078 [GRCh38]
Chr7:91708390..91708392 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11384A>G (p.Asn3795Ser) single nucleotide variant Long QT syndrome [RCV003084443] Chr7:92105731 [GRCh38]
Chr7:91735045 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9452A>C (p.Gln3151Pro) single nucleotide variant Long QT syndrome [RCV002801468] Chr7:92093190 [GRCh38]
Chr7:91722504 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11226G>A (p.Arg3742=) single nucleotide variant Long QT syndrome [RCV002624952] Chr7:92102722 [GRCh38]
Chr7:91732036 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11021A>G (p.Tyr3674Cys) single nucleotide variant Long QT syndrome [RCV003056528] Chr7:92100980 [GRCh38]
Chr7:91730294 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3553C>A (p.His1185Asn) single nucleotide variant Cardiovascular phenotype [RCV003167895]|Long QT syndrome [RCV002890901] Chr7:92014269 [GRCh38]
Chr7:91643583 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.323C>T (p.Ser108Leu) single nucleotide variant Long QT syndrome [RCV002625307] Chr7:91980305 [GRCh38]
Chr7:91609619 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5953del (p.Ala1985fs) deletion Long QT syndrome [RCV002623290] Chr7:92062462 [GRCh38]
Chr7:91691776 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10946C>A (p.Ala3649Asp) single nucleotide variant Long QT syndrome [RCV003057510] Chr7:92100905 [GRCh38]
Chr7:91730219 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11464T>C (p.Leu3822=) single nucleotide variant Long QT syndrome [RCV003042123] Chr7:92107340 [GRCh38]
Chr7:91736654 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2998A>G (p.Ile1000Val) single nucleotide variant Cardiovascular phenotype [RCV004140772]|Long QT syndrome [RCV003777861] Chr7:92002915 [GRCh38]
Chr7:91632229 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1605A>G (p.Glu535=) single nucleotide variant Long QT syndrome [RCV003081892] Chr7:92001522 [GRCh38]
Chr7:91630836 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10897-12T>C single nucleotide variant Long QT syndrome [RCV002624911] Chr7:92100844 [GRCh38]
Chr7:91730158 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6252A>G (p.Gln2084=) single nucleotide variant Long QT syndrome [RCV003024169] Chr7:92066468 [GRCh38]
Chr7:91695782 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7989A>G (p.Lys2663=) single nucleotide variant Long QT syndrome [RCV003085056] Chr7:92080122 [GRCh38]
Chr7:91709436 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8762T>C (p.Phe2921Ser) single nucleotide variant Cardiovascular phenotype [RCV003170635]|Long QT syndrome [RCV002957345] Chr7:92084870 [GRCh38]
Chr7:91714184 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4245+15A>G single nucleotide variant Long QT syndrome [RCV002830057] Chr7:92030006 [GRCh38]
Chr7:91659320 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10215G>C (p.Met3405Ile) single nucleotide variant Long QT syndrome [RCV003025974] Chr7:92097174 [GRCh38]
Chr7:91726488 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9830T>G (p.Ile3277Arg) single nucleotide variant Cardiovascular phenotype [RCV003382971]|Long QT syndrome [RCV002914653] Chr7:92096789 [GRCh38]
Chr7:91726103 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.5764+16T>C single nucleotide variant Long QT syndrome [RCV002954017] Chr7:92061438 [GRCh38]
Chr7:91690752 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7865T>C (p.Leu2622Ser) single nucleotide variant Long QT syndrome [RCV003057948] Chr7:92079998 [GRCh38]
Chr7:91709312 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5058+2T>C single nucleotide variant Cardiovascular phenotype [RCV004064380]|Long QT syndrome [RCV002575378] Chr7:92042188 [GRCh38]
Chr7:91671502 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5851_5852delinsTT (p.Glu1951Leu) indel Long QT syndrome [RCV002643958] Chr7:92062360..92062361 [GRCh38]
Chr7:91691674..91691675 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8277A>G (p.Gln2759=) single nucleotide variant Long QT syndrome [RCV003055995] Chr7:92083286 [GRCh38]
Chr7:91712600 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10545C>A (p.Ile3515=) single nucleotide variant Long QT syndrome [RCV002710763] Chr7:92097732 [GRCh38]
Chr7:91727046 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3564T>C (p.Ile1188=) single nucleotide variant Long QT syndrome [RCV002701460] Chr7:92014280 [GRCh38]
Chr7:91643594 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.622A>G (p.Thr208Ala) single nucleotide variant Long QT syndrome [RCV003082300] Chr7:91994666 [GRCh38]
Chr7:91623980 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8925G>C (p.Gln2975His) single nucleotide variant Long QT syndrome [RCV002915009] Chr7:92085587 [GRCh38]
Chr7:91714901 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9072T>C (p.Gly3024=) single nucleotide variant Cardiovascular phenotype [RCV004065566]|Long QT syndrome [RCV002597050] Chr7:92086275 [GRCh38]
Chr7:91715589 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9272del (p.Leu3091fs) deletion Long QT syndrome [RCV002915027] Chr7:92089442 [GRCh38]
Chr7:91718756 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2677_2681del (p.Leu893fs) deletion Long QT syndrome [RCV003059147] Chr7:92002592..92002596 [GRCh38]
Chr7:91631906..91631910 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1415A>G (p.Glu472Gly) single nucleotide variant Long QT syndrome [RCV003084937] Chr7:92001332 [GRCh38]
Chr7:91630646 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8589A>G (p.Leu2863=) single nucleotide variant Long QT syndrome [RCV003023874] Chr7:92083598 [GRCh38]
Chr7:91712912 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6210+18G>A single nucleotide variant Long QT syndrome [RCV002625151] Chr7:92065481 [GRCh38]
Chr7:91694795 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10229C>G (p.Ser3410Cys) single nucleotide variant Long QT syndrome [RCV002572817] Chr7:92097188 [GRCh38]
Chr7:91726502 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3041_3044del (p.Thr1014fs) deletion Long QT syndrome [RCV003007851] Chr7:92002957..92002960 [GRCh38]
Chr7:91632271..91632274 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11259G>C (p.Glu3753Asp) single nucleotide variant Cardiovascular phenotype [RCV004632176]|Long QT syndrome [RCV003085511] Chr7:92102755 [GRCh38]
Chr7:91732069 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.1278A>G (p.Thr426=) single nucleotide variant Cardiovascular phenotype [RCV003382890]|Long QT syndrome [RCV002575076] Chr7:92001195 [GRCh38]
Chr7:91630509 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8805A>T (p.Ala2935=) single nucleotide variant Long QT syndrome [RCV003043234] Chr7:92084913 [GRCh38]
Chr7:91714227 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4692+4A>G single nucleotide variant Long QT syndrome [RCV003022922] Chr7:92038776 [GRCh38]
Chr7:91668090 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3751+17A>G single nucleotide variant Long QT syndrome [RCV002624718] Chr7:92016284 [GRCh38]
Chr7:91645598 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.935A>G (p.Gln312Arg) single nucleotide variant Cardiovascular phenotype [RCV004070994]|Long QT syndrome [RCV003533803] Chr7:92000852 [GRCh38]
Chr7:91630166 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8022A>G (p.Thr2674=) single nucleotide variant Long QT syndrome [RCV003059240] Chr7:92082524 [GRCh38]
Chr7:91711838 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.172G>A (p.Asp58Asn) single nucleotide variant Long QT syndrome [RCV003083355] Chr7:91973834 [GRCh38]
Chr7:91603148 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6357A>G (p.Lys2119=) single nucleotide variant Long QT syndrome [RCV003023637] Chr7:92070056 [GRCh38]
Chr7:91699370 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4096C>T (p.His1366Tyr) single nucleotide variant Cardiovascular phenotype [RCV004068446]|Long QT syndrome [RCV003011307] Chr7:92022957 [GRCh38]
Chr7:91652271 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5014G>A (p.Glu1672Lys) single nucleotide variant Cardiovascular phenotype [RCV004634180]|Long QT syndrome [RCV002602701] Chr7:92042142 [GRCh38]
Chr7:91671456 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4692+16T>G single nucleotide variant Long QT syndrome [RCV002628076] Chr7:92038788 [GRCh38]
Chr7:91668102 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2978G>A (p.Arg993Lys) single nucleotide variant Cardiovascular phenotype [RCV004070594]|Long QT syndrome [RCV002632758] Chr7:92002895 [GRCh38]
Chr7:91632209 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10793A>G (p.His3598Arg) single nucleotide variant Long QT syndrome [RCV002650962] Chr7:92099766 [GRCh38]
Chr7:91729080 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8807C>G (p.Thr2936Arg) single nucleotide variant Long QT syndrome [RCV003049195] Chr7:92084915 [GRCh38]
Chr7:91714229 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1191A>G (p.Leu397=) single nucleotide variant Long QT syndrome [RCV002602096] Chr7:92001108 [GRCh38]
Chr7:91630422 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3432C>T (p.Cys1144=) single nucleotide variant Long QT syndrome [RCV003031185] Chr7:92012542 [GRCh38]
Chr7:91641856 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4796A>G (p.Gln1599Arg) single nucleotide variant Long QT syndrome [RCV003031118] Chr7:92040777 [GRCh38]
Chr7:91670091 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5492C>A (p.Ala1831Asp) single nucleotide variant Cardiovascular phenotype [RCV004071990]|Long QT syndrome [RCV003091574] Chr7:92052849 [GRCh38]
Chr7:91682163 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10398+12G>T single nucleotide variant Long QT syndrome [RCV002581997] Chr7:92097369 [GRCh38]
Chr7:91726683 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10363G>C (p.Glu3455Gln) single nucleotide variant Cardiovascular phenotype [RCV004136500] Chr7:92097322 [GRCh38]
Chr7:91726636 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5979A>G (p.Gln1993=) single nucleotide variant Long QT syndrome [RCV003043853] Chr7:92065232 [GRCh38]
Chr7:91694546 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3116A>G (p.Asn1039Ser) single nucleotide variant Long QT syndrome [RCV003089813] Chr7:92003033 [GRCh38]
Chr7:91632347 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4563A>G (p.Leu1521=) single nucleotide variant Long QT syndrome [RCV002580789] Chr7:92038643 [GRCh38]
Chr7:91667957 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4362A>C (p.Ala1454=) single nucleotide variant Long QT syndrome [RCV002922932] Chr7:92038442 [GRCh38]
Chr7:91667756 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10023A>C (p.Ser3341=) single nucleotide variant Long QT syndrome [RCV002962761] Chr7:92096982 [GRCh38]
Chr7:91726296 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3318+14_3318+16del microsatellite Long QT syndrome [RCV002600556] Chr7:92003245..92003247 [GRCh38]
Chr7:91632559..91632561 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8020-13del deletion Long QT syndrome [RCV003044852] Chr7:92082508 [GRCh38]
Chr7:91711822 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9831A>G (p.Ile3277Met) single nucleotide variant Long QT syndrome [RCV002598158] Chr7:92096790 [GRCh38]
Chr7:91726104 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4103T>C (p.Leu1368Ser) single nucleotide variant Long QT syndrome [RCV003028559] Chr7:92022964 [GRCh38]
Chr7:91652278 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9197A>G (p.Gln3066Arg) single nucleotide variant Cardiovascular phenotype [RCV004170940] Chr7:92086400 [GRCh38]
Chr7:91715714 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10868A>G (p.Tyr3623Cys) single nucleotide variant Long QT syndrome [RCV002962908] Chr7:92099841 [GRCh38]
Chr7:91729155 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3250C>T (p.Leu1084Phe) single nucleotide variant Long QT syndrome [RCV002806340] Chr7:92003167 [GRCh38]
Chr7:91632481 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3844G>A (p.Gly1282Arg) single nucleotide variant Cardiovascular phenotype [RCV004070346]|Long QT syndrome [RCV003063054] Chr7:92022244 [GRCh38]
Chr7:91651558 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3808C>T (p.Leu1270Phe) single nucleotide variant Cardiovascular phenotype [RCV004070810]|Long QT syndrome [RCV002629037] Chr7:92017073 [GRCh38]
Chr7:91646387 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9359-6G>A single nucleotide variant Long QT syndrome [RCV002629045] Chr7:92093091 [GRCh38]
Chr7:91722405 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5601+6C>T single nucleotide variant Long QT syndrome [RCV003060986] Chr7:92052964 [GRCh38]
Chr7:91682278 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7850A>C (p.Glu2617Ala) single nucleotide variant Cardiovascular phenotype [RCV004179495] Chr7:92079983 [GRCh38]
Chr7:91709297 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3630T>G (p.Leu1210=) single nucleotide variant Long QT syndrome [RCV003088555] Chr7:92016146 [GRCh38]
Chr7:91645460 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8020-13C>T single nucleotide variant Long QT syndrome [RCV003044858] Chr7:92082509 [GRCh38]
Chr7:91711823 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11437T>C (p.Phe3813Leu) single nucleotide variant Cardiovascular phenotype [RCV004106717] Chr7:92107313 [GRCh38]
Chr7:91736627 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3984G>T (p.Leu1328=) single nucleotide variant Long QT syndrome [RCV003060825] Chr7:92022845 [GRCh38]
Chr7:91652159 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7167T>C (p.Asp2389=) single nucleotide variant Long QT syndrome [RCV002876989] Chr7:92079300 [GRCh38]
Chr7:91708614 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11431G>A (p.Asp3811Asn) single nucleotide variant Long QT syndrome [RCV003011144] Chr7:92107307 [GRCh38]
Chr7:91736621 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10991A>C (p.Lys3664Thr) single nucleotide variant Long QT syndrome [RCV003062685] Chr7:92100950 [GRCh38]
Chr7:91730264 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5163-6A>G single nucleotide variant Long QT syndrome [RCV003090541] Chr7:92045002 [GRCh38]
Chr7:91674316 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3380A>C (p.His1127Pro) single nucleotide variant Long QT syndrome [RCV002746645] Chr7:92012490 [GRCh38]
Chr7:91641804 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2844C>G (p.Thr948=) single nucleotide variant Long QT syndrome [RCV003027759] Chr7:92002761 [GRCh38]
Chr7:91632075 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11256A>G (p.Leu3752=) single nucleotide variant Cardiovascular phenotype [RCV003382991]|Long QT syndrome [RCV003028410] Chr7:92102752 [GRCh38]
Chr7:91732066 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8328G>A (p.Lys2776=) single nucleotide variant Long QT syndrome [RCV003064171] Chr7:92083337 [GRCh38]
Chr7:91712651 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8716G>A (p.Gly2906Arg) single nucleotide variant Long QT syndrome [RCV002937939] Chr7:92084824 [GRCh38]
Chr7:91714138 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10389C>A (p.Asn3463Lys) single nucleotide variant Long QT syndrome [RCV002770601] Chr7:92097348 [GRCh38]
Chr7:91726662 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1962A>T (p.Lys654Asn) single nucleotide variant Long QT syndrome [RCV002745976] Chr7:92001879 [GRCh38]
Chr7:91631193 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11686+6_11686+7del microsatellite Long QT syndrome [RCV002856370] Chr7:92108637..92108638 [GRCh38]
Chr7:91737951..91737952 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9596A>G (p.Lys3199Arg) single nucleotide variant Long QT syndrome [RCV002720085] Chr7:92095040 [GRCh38]
Chr7:91724354 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7330C>G (p.Gln2444Glu) single nucleotide variant Long QT syndrome [RCV002628130] Chr7:92079463 [GRCh38]
Chr7:91708777 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3769C>T (p.His1257Tyr) single nucleotide variant Long QT syndrome [RCV003091494] Chr7:92017034 [GRCh38]
Chr7:91646348 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6806A>G (p.Asp2269Gly) single nucleotide variant Long QT syndrome [RCV003065404] Chr7:92077736 [GRCh38]
Chr7:91707050 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8872C>T (p.Leu2958Phe) single nucleotide variant Cardiovascular phenotype [RCV004068685]|Long QT syndrome [RCV003027405] Chr7:92085534 [GRCh38]
Chr7:91714848 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5252G>A (p.Arg1751His) single nucleotide variant Cardiovascular phenotype [RCV003294601]|Long QT syndrome [RCV002647907] Chr7:92045097 [GRCh38]
Chr7:91674411 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6392C>G (p.Ser2131Cys) single nucleotide variant Long QT syndrome [RCV003011287] Chr7:92070091 [GRCh38]
Chr7:91699405 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11330+19A>G single nucleotide variant Long QT syndrome [RCV003009416] Chr7:92102845 [GRCh38]
Chr7:91732159 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4692+16T>C single nucleotide variant Long QT syndrome [RCV002922211] Chr7:92038788 [GRCh38]
Chr7:91668102 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6459A>G (p.Val2153=) single nucleotide variant Long QT syndrome [RCV002598849] Chr7:92070158 [GRCh38]
Chr7:91699472 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5682G>C (p.Lys1894Asn) single nucleotide variant Long QT syndrome [RCV003008447] Chr7:92061340 [GRCh38]
Chr7:91690654 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4402A>C (p.Lys1468Gln) single nucleotide variant Long QT syndrome [RCV003031481] Chr7:92038482 [GRCh38]
Chr7:91667796 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8711-11C>A single nucleotide variant Long QT syndrome [RCV002628943] Chr7:92084808 [GRCh38]
Chr7:91714122 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2227C>A (p.Gln743Lys) single nucleotide variant Cardiovascular phenotype [RCV003383002]|Long QT syndrome [RCV003050966] Chr7:92002144 [GRCh38]
Chr7:91631458 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.30G>T (p.Leu10=) single nucleotide variant Long QT syndrome [RCV003050084] Chr7:91941129 [GRCh38]
Chr7:91570443 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4248T>C (p.Phe1416=) single nucleotide variant Long QT syndrome [RCV003067473] Chr7:92031514 [GRCh38]
Chr7:91660828 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2083T>C (p.Leu695=) single nucleotide variant Long QT syndrome [RCV002676935] Chr7:92002000 [GRCh38]
Chr7:91631314 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8832+16T>C single nucleotide variant Long QT syndrome [RCV003069037] Chr7:92084956 [GRCh38]
Chr7:91714270 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10231A>G (p.Lys3411Glu) single nucleotide variant Long QT syndrome [RCV002658046] Chr7:92097190 [GRCh38]
Chr7:91726504 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9423C>A (p.Ser3141Arg) single nucleotide variant Cardiovascular phenotype [RCV004071867]|Long QT syndrome [RCV003069760] Chr7:92093161 [GRCh38]
Chr7:91722475 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8150A>G (p.Glu2717Gly) single nucleotide variant Cardiovascular phenotype [RCV003294575]|Long QT syndrome [RCV002633411] Chr7:92082652 [GRCh38]
Chr7:91711966 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.1879A>T (p.Thr627Ser) single nucleotide variant Cardiovascular phenotype [RCV004067150]|Long QT syndrome [RCV002942109] Chr7:92001796 [GRCh38]
Chr7:91631110 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4693-20T>G single nucleotide variant Long QT syndrome [RCV003067361] Chr7:92040654 [GRCh38]
Chr7:91669968 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11611G>A (p.Asp3871Asn) single nucleotide variant Long QT syndrome [RCV003067382] Chr7:92108558 [GRCh38]
Chr7:91737872 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1744A>G (p.Arg582Gly) single nucleotide variant Long QT syndrome [RCV003069350] Chr7:92001661 [GRCh38]
Chr7:91630975 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5357A>G (p.Glu1786Gly) single nucleotide variant Long QT syndrome [RCV002605504] Chr7:92045202 [GRCh38]
Chr7:91674516 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8581G>A (p.Val2861Ile) single nucleotide variant Long QT syndrome [RCV002633391] Chr7:92083590 [GRCh38]
Chr7:91712904 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.134G>A (p.Ser45Asn) single nucleotide variant Long QT syndrome [RCV002583552] Chr7:91973796 [GRCh38]
Chr7:91603110 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8437T>C (p.Ser2813Pro) single nucleotide variant Long QT syndrome [RCV003070470] Chr7:92083446 [GRCh38]
Chr7:91712760 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4772G>A (p.Arg1591Lys) single nucleotide variant Long QT syndrome [RCV002586017] Chr7:92040753 [GRCh38]
Chr7:91670067 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9251A>G (p.Lys3084Arg) single nucleotide variant Cardiovascular phenotype [RCV003164817]|Long QT syndrome [RCV002586882] Chr7:92089422 [GRCh38]
Chr7:91718736 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11310A>G (p.Arg3770=) single nucleotide variant Long QT syndrome [RCV003072961] Chr7:92102806 [GRCh38]
Chr7:91732120 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3493C>T (p.His1165Tyr) single nucleotide variant Long QT syndrome [RCV003070700]|not specified [RCV003388146] Chr7:92012603 [GRCh38]
Chr7:91641917 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10607+5G>C single nucleotide variant Long QT syndrome [RCV002635073] Chr7:92097799 [GRCh38]
Chr7:91727113 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9305A>G (p.Asn3102Ser) single nucleotide variant Long QT syndrome [RCV003069884] Chr7:92089476 [GRCh38]
Chr7:91718790 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8531C>A (p.Ser2844Tyr) single nucleotide variant Cardiovascular phenotype [RCV004634181]|Long QT syndrome [RCV002588406] Chr7:92083540 [GRCh38]
Chr7:91712854 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7989_7993del (p.Arg2664fs) microsatellite Long QT syndrome [RCV002586696] Chr7:92080111..92080115 [GRCh38]
Chr7:91709425..91709429 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5202C>T (p.Ile1734=) single nucleotide variant Long QT syndrome [RCV003092837] Chr7:92045047 [GRCh38]
Chr7:91674361 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8711-15T>C single nucleotide variant Long QT syndrome [RCV003051393] Chr7:92084804 [GRCh38]
Chr7:91714118 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8652C>G (p.Ser2884=) single nucleotide variant Long QT syndrome [RCV003069796] Chr7:92084645 [GRCh38]
Chr7:91713959 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3108T>G (p.Ser1036=) single nucleotide variant Cardiovascular phenotype [RCV003170653]|Long QT syndrome [RCV002942885] Chr7:92003025 [GRCh38]
Chr7:91632339 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11417-19A>G single nucleotide variant Long QT syndrome [RCV002608004] Chr7:92107274 [GRCh38]
Chr7:91736588 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6946-11T>C single nucleotide variant Long QT syndrome [RCV003070024] Chr7:92079068 [GRCh38]
Chr7:91708382 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.970A>T (p.Ile324Leu) single nucleotide variant Long QT syndrome [RCV002586084] Chr7:92000887 [GRCh38]
Chr7:91630201 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8160+15A>G single nucleotide variant Long QT syndrome [RCV002612286] Chr7:92082677 [GRCh38]
Chr7:91711991 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9926T>G (p.Ile3309Ser) single nucleotide variant Long QT syndrome [RCV002612344] Chr7:92096885 [GRCh38]
Chr7:91726199 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11687-3T>C single nucleotide variant Long QT syndrome [RCV002589973] Chr7:92110119 [GRCh38]
Chr7:91739433 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3291_3294del (p.Lys1097fs) microsatellite not specified [RCV003155652] Chr7:92003204..92003207 [GRCh38]
Chr7:91632518..91632521 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8258A>T (p.Glu2753Val) single nucleotide variant Cardiovascular phenotype [RCV003296235] Chr7:92083267 [GRCh38]
Chr7:91712581 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9985A>G (p.Ser3329Gly) single nucleotide variant Cardiovascular phenotype [RCV003296236] Chr7:92096944 [GRCh38]
Chr7:91726258 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7256C>A (p.Thr2419Asn) single nucleotide variant Cardiovascular phenotype [RCV003296239] Chr7:92079389 [GRCh38]
Chr7:91708703 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9698G>A (p.Arg3233His) single nucleotide variant Cardiovascular phenotype [RCV004259637] Chr7:92095142 [GRCh38]
Chr7:91724456 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.25A>C (p.Lys9Gln) single nucleotide variant Cardiovascular phenotype [RCV004257556] Chr7:91941124 [GRCh38]
Chr7:91570438 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.954C>T (p.Asn318=) single nucleotide variant Cardiovascular phenotype [RCV003171246] Chr7:92000871 [GRCh38]
Chr7:91630185 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3318+4T>C single nucleotide variant Cardiovascular phenotype [RCV003171247] Chr7:92003239 [GRCh38]
Chr7:91632553 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10723G>A (p.Val3575Met) single nucleotide variant Cardiovascular phenotype [RCV003171248] Chr7:92099696 [GRCh38]
Chr7:91729010 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8693G>A (p.Arg2898Lys) single nucleotide variant Cardiovascular phenotype [RCV003171249] Chr7:92084686 [GRCh38]
Chr7:91714000 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7947A>G (p.Leu2649=) single nucleotide variant Cardiovascular phenotype [RCV003171250] Chr7:92080080 [GRCh38]
Chr7:91709394 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9056T>G (p.Phe3019Cys) single nucleotide variant Cardiovascular phenotype [RCV003171251] Chr7:92086259 [GRCh38]
Chr7:91715573 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2003A>C (p.Asp668Ala) single nucleotide variant Cardiovascular phenotype [RCV003171255] Chr7:92001920 [GRCh38]
Chr7:91631234 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.795A>C (p.Gln265His) single nucleotide variant Cardiovascular phenotype [RCV003171256] Chr7:91995665 [GRCh38]
Chr7:91624979 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6568C>G (p.Gln2190Glu) single nucleotide variant Cardiovascular phenotype [RCV003171257] Chr7:92070965 [GRCh38]
Chr7:91700279 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7218T>C (p.Asn2406=) single nucleotide variant Cardiovascular phenotype [RCV003171258] Chr7:92079351 [GRCh38]
Chr7:91708665 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7629A>T (p.Leu2543=) single nucleotide variant Cardiovascular phenotype [RCV003171259]|Long QT syndrome [RCV003647955] Chr7:92079762 [GRCh38]
Chr7:91709076 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11257G>T (p.Glu3753Ter) single nucleotide variant Cardiovascular phenotype [RCV003171260] Chr7:92102753 [GRCh38]
Chr7:91732067 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10500A>C (p.Glu3500Asp) single nucleotide variant Cardiovascular phenotype [RCV003171261] Chr7:92097687 [GRCh38]
Chr7:91727001 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4007T>A (p.Leu1336His) single nucleotide variant Cardiovascular phenotype [RCV003171262] Chr7:92022868 [GRCh38]
Chr7:91652182 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11398G>A (p.Gly3800Ser) single nucleotide variant Cardiovascular phenotype [RCV003171729] Chr7:92105745 [GRCh38]
Chr7:91735059 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7129C>G (p.Leu2377Val) single nucleotide variant Cardiovascular phenotype [RCV003171730] Chr7:92079262 [GRCh38]
Chr7:91708576 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6533C>T (p.Ala2178Val) single nucleotide variant Cardiovascular phenotype [RCV003171731] Chr7:92070930 [GRCh38]
Chr7:91700244 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9213+3A>G single nucleotide variant Cardiovascular phenotype [RCV003171732] Chr7:92086419 [GRCh38]
Chr7:91715733 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4232A>T (p.Asp1411Val) single nucleotide variant Cardiovascular phenotype [RCV003171733] Chr7:92029978 [GRCh38]
Chr7:91659292 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1165_1166del (p.Gln389fs) deletion Cardiovascular phenotype [RCV003171734] Chr7:92001081..92001082 [GRCh38]
Chr7:91630395..91630396 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7175T>G (p.Ile2392Arg) single nucleotide variant Cardiovascular phenotype [RCV003171735] Chr7:92079308 [GRCh38]
Chr7:91708622 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.80C>G (p.Ser27Trp) single nucleotide variant Cardiovascular phenotype [RCV003171747] Chr7:91973742 [GRCh38]
Chr7:91603056 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4704G>T (p.Glu1568Asp) single nucleotide variant Cardiovascular phenotype [RCV003171748] Chr7:92040685 [GRCh38]
Chr7:91669999 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11680C>T (p.Gln3894Ter) single nucleotide variant Cardiovascular phenotype [RCV003171749] Chr7:92108627 [GRCh38]
Chr7:91737941 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7833A>T (p.Leu2611Phe) single nucleotide variant Cardiovascular phenotype [RCV003171750] Chr7:92079966 [GRCh38]
Chr7:91709280 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8506G>A (p.Ala2836Thr) single nucleotide variant Cardiovascular phenotype [RCV003171751]|Long QT syndrome [RCV003647953] Chr7:92083515 [GRCh38]
Chr7:91712829 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8394T>A (p.Leu2798=) single nucleotide variant Cardiovascular phenotype [RCV003171752]|Long QT syndrome [RCV003647954] Chr7:92083403 [GRCh38]
Chr7:91712717 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2877G>A (p.Leu959=) single nucleotide variant Cardiovascular phenotype [RCV003171753] Chr7:92002794 [GRCh38]
Chr7:91632108 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10304G>T (p.Arg3435Leu) single nucleotide variant Cardiovascular phenotype [RCV003171754] Chr7:92097263 [GRCh38]
Chr7:91726577 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6472C>T (p.Gln2158Ter) single nucleotide variant Cardiovascular phenotype [RCV003171755] Chr7:92070171 [GRCh38]
Chr7:91699485 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1096A>T (p.Ile366Phe) single nucleotide variant Cardiovascular phenotype [RCV003171756] Chr7:92001013 [GRCh38]
Chr7:91630327 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.6013A>G (p.Lys2005Glu) single nucleotide variant Cardiovascular phenotype [RCV003171757] Chr7:92065266 [GRCh38]
Chr7:91694580 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.985A>G (p.Thr329Ala) single nucleotide variant Cardiovascular phenotype [RCV003171758] Chr7:92000902 [GRCh38]
Chr7:91630216 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10071T>C (p.Ser3357=) single nucleotide variant Cardiovascular phenotype [RCV003171759] Chr7:92097030 [GRCh38]
Chr7:91726344 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8218C>T (p.Leu2740Phe) single nucleotide variant Cardiovascular phenotype [RCV003171761] Chr7:92083227 [GRCh38]
Chr7:91712541 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1203C>G (p.Val401=) single nucleotide variant Cardiovascular phenotype [RCV003171762] Chr7:92001120 [GRCh38]
Chr7:91630434 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2473_2478del (p.Leu825_Ile826del) deletion Cardiovascular phenotype [RCV003171763] Chr7:92002387..92002392 [GRCh38]
Chr7:91631701..91631706 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8374A>C (p.Asn2792His) single nucleotide variant Cardiovascular phenotype [RCV003171764] Chr7:92083383 [GRCh38]
Chr7:91712697 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8556C>T (p.Thr2852=) single nucleotide variant Cardiovascular phenotype [RCV003171765] Chr7:92083565 [GRCh38]
Chr7:91712879 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5690A>G (p.Glu1897Gly) single nucleotide variant Cardiovascular phenotype [RCV003171766] Chr7:92061348 [GRCh38]
Chr7:91690662 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.444A>C (p.Gln148His) single nucleotide variant Cardiovascular phenotype [RCV003171767] Chr7:91992923 [GRCh38]
Chr7:91622237 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11417-4T>G single nucleotide variant Cardiovascular phenotype [RCV003171768] Chr7:92107289 [GRCh38]
Chr7:91736603 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4270G>A (p.Glu1424Lys) single nucleotide variant Cardiovascular phenotype [RCV003171769]|Long QT syndrome [RCV003533818] Chr7:92031536 [GRCh38]
Chr7:91660850 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2370G>T (p.Met790Ile) single nucleotide variant Cardiovascular phenotype [RCV003171770] Chr7:92002287 [GRCh38]
Chr7:91631601 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10888A>G (p.Arg3630Gly) single nucleotide variant Long QT syndrome 11 [RCV003224673] Chr7:92099861 [GRCh38]
Chr7:91729175 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4479A>G (p.Leu1493=) single nucleotide variant Cardiovascular phenotype [RCV003177564] Chr7:92038559 [GRCh38]
Chr7:91667873 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6455G>A (p.Arg2152Lys) single nucleotide variant Cardiovascular phenotype [RCV003171252]|not specified [RCV003988090] Chr7:92070154 [GRCh38]
Chr7:91699468 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10860C>A (p.Ile3620=) single nucleotide variant Cardiovascular phenotype [RCV003171253] Chr7:92099833 [GRCh38]
Chr7:91729147 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9434A>G (p.Asp3145Gly) single nucleotide variant Cardiovascular phenotype [RCV003171254] Chr7:92093172 [GRCh38]
Chr7:91722486 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7309C>A (p.Arg2437Ser) single nucleotide variant Cardiovascular phenotype [RCV004274417] Chr7:92079442 [GRCh38]
Chr7:91708756 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.406GAA[2] (p.Glu138del) microsatellite Cardiovascular phenotype [RCV004285618]|Long QT syndrome 11 [RCV003228174] Chr7:91992885..91992887 [GRCh38]
Chr7:91622199..91622201 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8143C>T (p.Leu2715Phe) single nucleotide variant Cardiovascular phenotype [RCV003213811] Chr7:92082645 [GRCh38]
Chr7:91711959 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4607A>G (p.His1536Arg) single nucleotide variant Cardiovascular phenotype [RCV003213812] Chr7:92038687 [GRCh38]
Chr7:91668001 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9058T>C (p.Ser3020Pro) single nucleotide variant Cardiovascular phenotype [RCV003213813] Chr7:92086261 [GRCh38]
Chr7:91715575 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10229C>A (p.Ser3410Tyr) single nucleotide variant Cardiovascular phenotype [RCV003213814]|Long QT syndrome [RCV003533825] Chr7:92097188 [GRCh38]
Chr7:91726502 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7003A>G (p.Met2335Val) single nucleotide variant Cardiovascular phenotype [RCV004265668] Chr7:92079136 [GRCh38]
Chr7:91708450 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7790T>G (p.Leu2597Trp) single nucleotide variant Cardiovascular phenotype [RCV003177583] Chr7:92079923 [GRCh38]
Chr7:91709237 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5669C>A (p.Thr1890Lys) single nucleotide variant Long QT syndrome 11 [RCV003141290] Chr7:92061327 [GRCh38]
Chr7:91690641 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8458A>G (p.Ile2820Val) single nucleotide variant Long QT syndrome 11 [RCV003141291] Chr7:92083467 [GRCh38]
Chr7:91712781 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10766T>G (p.Leu3589Arg) single nucleotide variant Cardiovascular phenotype [RCV003171244] Chr7:92099739 [GRCh38]
Chr7:91729053 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5153C>G (p.Ser1718Cys) single nucleotide variant Cardiovascular phenotype [RCV003171245] Chr7:92042762 [GRCh38]
Chr7:91672076 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6274C>G (p.Gln2092Glu) single nucleotide variant Cardiovascular phenotype [RCV003171263] Chr7:92066490 [GRCh38]
Chr7:91695804 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2777A>C (p.Glu926Ala) single nucleotide variant Cardiovascular phenotype [RCV003171742] Chr7:92002694 [GRCh38]
Chr7:91632008 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11061A>C (p.Gln3687His) single nucleotide variant Cardiovascular phenotype [RCV003171743] Chr7:92101020 [GRCh38]
Chr7:91730334 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1809A>G (p.Leu603=) single nucleotide variant Cardiovascular phenotype [RCV003171744] Chr7:92001726 [GRCh38]
Chr7:91631040 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1534C>T (p.Leu512Phe) single nucleotide variant Cardiovascular phenotype [RCV003171745] Chr7:92001451 [GRCh38]
Chr7:91630765 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4864G>A (p.Asp1622Asn) single nucleotide variant Cardiovascular phenotype [RCV003171746] Chr7:92040845 [GRCh38]
Chr7:91670159 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8660C>G (p.Pro2887Arg) single nucleotide variant Cardiovascular phenotype [RCV003171775] Chr7:92084653 [GRCh38]
Chr7:91713967 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9416A>G (p.Glu3139Gly) single nucleotide variant Cardiovascular phenotype [RCV003171736] Chr7:92093154 [GRCh38]
Chr7:91722468 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11231G>A (p.Gly3744Glu) single nucleotide variant Cardiovascular phenotype [RCV003171737] Chr7:92102727 [GRCh38]
Chr7:91732041 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7219G>C (p.Glu2407Gln) single nucleotide variant Cardiovascular phenotype [RCV003171738] Chr7:92079352 [GRCh38]
Chr7:91708666 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9153T>C (p.Ala3051=) single nucleotide variant Cardiovascular phenotype [RCV003171739] Chr7:92086356 [GRCh38]
Chr7:91715670 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2151G>T (p.Met717Ile) single nucleotide variant Cardiovascular phenotype [RCV003171740] Chr7:92002068 [GRCh38]
Chr7:91631382 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4603C>T (p.Pro1535Ser) single nucleotide variant Cardiovascular phenotype [RCV003171741] Chr7:92038683 [GRCh38]
Chr7:91667997 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7217A>T (p.Asn2406Ile) single nucleotide variant Cardiovascular phenotype [RCV003171771] Chr7:92079350 [GRCh38]
Chr7:91708664 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4805A>G (p.Gln1602Arg) single nucleotide variant Cardiovascular phenotype [RCV003171772] Chr7:92040786 [GRCh38]
Chr7:91670100 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3127G>A (p.Gly1043Ser) single nucleotide variant Cardiovascular phenotype [RCV003171773] Chr7:92003044 [GRCh38]
Chr7:91632358 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1483A>G (p.Ile495Val) single nucleotide variant Cardiovascular phenotype [RCV003171774]|Long QT syndrome [RCV003647956] Chr7:92001400 [GRCh38]
Chr7:91630714 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6414T>C (p.Asp2138=) single nucleotide variant Cardiovascular phenotype [RCV003171776] Chr7:92070113 [GRCh38]
Chr7:91699427 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9261A>G (p.Arg3087=) single nucleotide variant Cardiovascular phenotype [RCV003171777] Chr7:92089432 [GRCh38]
Chr7:91718746 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10527T>C (p.Asn3509=) single nucleotide variant Cardiovascular phenotype [RCV003305781] Chr7:92097714 [GRCh38]
Chr7:91727028 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6730C>T (p.Leu2244=) single nucleotide variant Cardiovascular phenotype [RCV003305782] Chr7:92076972 [GRCh38]
Chr7:91706286 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4420T>C (p.Ser1474Pro) single nucleotide variant Cardiovascular phenotype [RCV003305784] Chr7:92038500 [GRCh38]
Chr7:91667814 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6307A>G (p.Ile2103Val) single nucleotide variant Cardiovascular phenotype [RCV003305786] Chr7:92066523 [GRCh38]
Chr7:91695837 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9698G>T (p.Arg3233Leu) single nucleotide variant Cardiovascular phenotype [RCV003305787]|Long QT syndrome [RCV003533831] Chr7:92095142 [GRCh38]
Chr7:91724456 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6142C>G (p.Leu2048Val) single nucleotide variant Cardiovascular phenotype [RCV004309090] Chr7:92065395 [GRCh38]
Chr7:91694709 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4903A>G (p.Arg1635Gly) single nucleotide variant not provided [RCV003329681] Chr7:92040884 [GRCh38]
Chr7:91670198 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7444T>C (p.Tyr2482His) single nucleotide variant Cardiovascular phenotype [RCV003360622] Chr7:92079577 [GRCh38]
Chr7:91708891 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.575A>G (p.Gln192Arg) single nucleotide variant Cardiovascular phenotype [RCV004351527] Chr7:91993054 [GRCh38]
Chr7:91622368 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3483T>G (p.Leu1161=) single nucleotide variant Cardiovascular phenotype [RCV003385829] Chr7:92012593 [GRCh38]
Chr7:91641907 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2474T>C (p.Leu825Pro) single nucleotide variant Cardiovascular phenotype [RCV003385830] Chr7:92002391 [GRCh38]
Chr7:91631705 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7542A>G (p.Glu2514=) single nucleotide variant Cardiovascular phenotype [RCV003385831] Chr7:92079675 [GRCh38]
Chr7:91708989 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4370A>G (p.Gln1457Arg) single nucleotide variant Cardiovascular phenotype [RCV003385832] Chr7:92038450 [GRCh38]
Chr7:91667764 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3934A>G (p.Thr1312Ala) single nucleotide variant Cardiovascular phenotype [RCV003382255] Chr7:92022334 [GRCh38]
Chr7:91651648 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8149G>A (p.Glu2717Lys) single nucleotide variant Cardiovascular phenotype [RCV003382256] Chr7:92082651 [GRCh38]
Chr7:91711965 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4465A>G (p.Asn1489Asp) single nucleotide variant Cardiovascular phenotype [RCV003382262] Chr7:92038545 [GRCh38]
Chr7:91667859 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1471A>T (p.Met491Leu) single nucleotide variant Cardiovascular phenotype [RCV003382264] Chr7:92001388 [GRCh38]
Chr7:91630702 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10280A>G (p.Tyr3427Cys) single nucleotide variant Cardiovascular phenotype [RCV003382277] Chr7:92097239 [GRCh38]
Chr7:91726553 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9261_9263del (p.Arg3088del) deletion Cardiovascular phenotype [RCV003382279]|Long QT syndrome [RCV003647984] Chr7:92089430..92089432 [GRCh38]
Chr7:91718744..91718746 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6360A>T (p.Glu2120Asp) single nucleotide variant Cardiovascular phenotype [RCV003382287] Chr7:92070059 [GRCh38]
Chr7:91699373 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4137G>T (p.Thr1379=) single nucleotide variant Cardiovascular phenotype [RCV003382272] Chr7:92022998 [GRCh38]
Chr7:91652312 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10434A>G (p.Arg3478=) single nucleotide variant Cardiovascular phenotype [RCV003382281] Chr7:92097621 [GRCh38]
Chr7:91726935 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10688A>T (p.Lys3563Ile) single nucleotide variant Cardiovascular phenotype [RCV003382273] Chr7:92098189 [GRCh38]
Chr7:91727503 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.587T>C (p.Phe196Ser) single nucleotide variant Cardiovascular phenotype [RCV003382276] Chr7:91994631 [GRCh38]
Chr7:91623945 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1041G>A (p.Glu347=) single nucleotide variant Cardiovascular phenotype [RCV003382284] Chr7:92000958 [GRCh38]
Chr7:91630272 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5605G>C (p.Glu1869Gln) single nucleotide variant Cardiovascular phenotype [RCV003382259] Chr7:92061263 [GRCh38]
Chr7:91690577 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4031_4034del (p.Glu1344fs) deletion Cardiovascular phenotype [RCV003382263] Chr7:92022890..92022893 [GRCh38]
Chr7:91652204..91652207 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8201G>A (p.Ser2734Asn) single nucleotide variant Cardiovascular phenotype [RCV003382271] Chr7:92083210 [GRCh38]
Chr7:91712524 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4685G>A (p.Arg1562Lys) single nucleotide variant Cardiovascular phenotype [RCV003382274] Chr7:92038765 [GRCh38]
Chr7:91668079 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8177T>A (p.Met2726Lys) single nucleotide variant Cardiovascular phenotype [RCV003382275] Chr7:92083186 [GRCh38]
Chr7:91712500 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11116T>C (p.Leu3706=) single nucleotide variant Cardiovascular phenotype [RCV003382278] Chr7:92102612 [GRCh38]
Chr7:91731926 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7789T>G (p.Leu2597Val) single nucleotide variant Cardiovascular phenotype [RCV003382283] Chr7:92079922 [GRCh38]
Chr7:91709236 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2246A>G (p.Gln749Arg) single nucleotide variant Cardiovascular phenotype [RCV004356696] Chr7:92002163 [GRCh38]
Chr7:91631477 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11515T>C (p.Tyr3839His) single nucleotide variant Cardiovascular phenotype [RCV004356773] Chr7:92107391 [GRCh38]
Chr7:91736705 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9375T>C (p.Asn3125=) single nucleotide variant Cardiovascular phenotype [RCV003382267]|Long QT syndrome [RCV003533856] Chr7:92093113 [GRCh38]
Chr7:91722427 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9956A>G (p.Glu3319Gly) single nucleotide variant Cardiovascular phenotype [RCV003382269] Chr7:92096915 [GRCh38]
Chr7:91726229 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1552C>G (p.Leu518Val) single nucleotide variant Cardiovascular phenotype [RCV003382270] Chr7:92001469 [GRCh38]
Chr7:91630783 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4044C>T (p.Ser1348=) single nucleotide variant Cardiovascular phenotype [RCV003382257] Chr7:92022905 [GRCh38]
Chr7:91652219 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10257G>C (p.Leu3419=) single nucleotide variant Cardiovascular phenotype [RCV003382258] Chr7:92097216 [GRCh38]
Chr7:91726530 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11428A>C (p.Thr3810Pro) single nucleotide variant Cardiovascular phenotype [RCV003382260] Chr7:92107304 [GRCh38]
Chr7:91736618 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10890A>C (p.Arg3630Ser) single nucleotide variant Cardiovascular phenotype [RCV003382268] Chr7:92099863 [GRCh38]
Chr7:91729177 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10432A>C (p.Arg3478=) single nucleotide variant Cardiovascular phenotype [RCV003382282] Chr7:92097619 [GRCh38]
Chr7:91726933 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6095A>C (p.Glu2032Ala) single nucleotide variant Cardiovascular phenotype [RCV003382261] Chr7:92065348 [GRCh38]
Chr7:91694662 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8601A>G (p.Glu2867=) single nucleotide variant Cardiovascular phenotype [RCV003382265] Chr7:92083610 [GRCh38]
Chr7:91712924 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.696A>C (p.Thr232=) single nucleotide variant Cardiovascular phenotype [RCV003382285]|Long QT syndrome [RCV003778149] Chr7:91994740 [GRCh38]
Chr7:91624054 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1578A>G (p.Leu526=) single nucleotide variant Cardiovascular phenotype [RCV003382288] Chr7:92001495 [GRCh38]
Chr7:91630809 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7350T>A (p.Ser2450Arg) single nucleotide variant Cardiovascular phenotype [RCV004355650] Chr7:92079483 [GRCh38]
Chr7:91708797 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8646+16A>G single nucleotide variant Long QT syndrome [RCV003873191] Chr7:92083671 [GRCh38]
Chr7:91712985 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9860A>G (p.Gln3287Arg) single nucleotide variant Long QT syndrome [RCV003874551] Chr7:92096819 [GRCh38]
Chr7:91726133 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3663A>G (p.Glu1221=) single nucleotide variant Long QT syndrome [RCV003875456] Chr7:92016179 [GRCh38]
Chr7:91645493 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.62G>A (p.Arg21Gln) single nucleotide variant Long QT syndrome [RCV003874516] Chr7:91973724 [GRCh38]
Chr7:91603038 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4114C>T (p.Leu1372Phe) single nucleotide variant Long QT syndrome [RCV003874352] Chr7:92022975 [GRCh38]
Chr7:91652289 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1158A>G (p.Lys386=) single nucleotide variant Long QT syndrome [RCV003874903] Chr7:92001075 [GRCh38]
Chr7:91630389 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10223T>A (p.Leu3408His) single nucleotide variant not provided [RCV003443765] Chr7:92097182 [GRCh38]
Chr7:91726496 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5622A>C (p.Thr1874=) single nucleotide variant not provided [RCV003436717] Chr7:92061280 [GRCh38]
Chr7:91690594 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6366A>C (p.Thr2122=) single nucleotide variant not provided [RCV003436718] Chr7:92070065 [GRCh38]
Chr7:91699379 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8018A>G (p.Lys2673Arg) single nucleotide variant AKAP9-related disorder [RCV003410617] Chr7:92080151 [GRCh38]
Chr7:91709465 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9334C>A (p.Gln3112Lys) single nucleotide variant AKAP9-related disorder [RCV003400451] Chr7:92089505 [GRCh38]
Chr7:91718819 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7890A>T (p.Glu2630Asp) single nucleotide variant Long QT syndrome [RCV003648145] Chr7:92080023 [GRCh38]
Chr7:91709337 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4619A>G (p.Glu1540Gly) single nucleotide variant Long QT syndrome [RCV003876289] Chr7:92038699 [GRCh38]
Chr7:91668013 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.555T>A (p.Tyr185Ter) single nucleotide variant Long QT syndrome [RCV003647741] Chr7:91993034 [GRCh38]
Chr7:91622348 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5978-18T>C single nucleotide variant Long QT syndrome [RCV003648302] Chr7:92065213 [GRCh38]
Chr7:91694527 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5285A>G (p.Lys1762Arg) single nucleotide variant Long QT syndrome [RCV003648232] Chr7:92045130 [GRCh38]
Chr7:91674444 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10896+3A>G single nucleotide variant Long QT syndrome [RCV003648398] Chr7:92099872 [GRCh38]
Chr7:91729186 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6166C>T (p.Gln2056Ter) single nucleotide variant Long QT syndrome [RCV003648400] Chr7:92065419 [GRCh38]
Chr7:91694733 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8241G>T (p.Leu2747Phe) single nucleotide variant Long QT syndrome [RCV003648313] Chr7:92083250 [GRCh38]
Chr7:91712564 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2289G>A (p.Glu763=) single nucleotide variant Long QT syndrome [RCV003648367] Chr7:92002206 [GRCh38]
Chr7:91631520 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9409C>A (p.Gln3137Lys) single nucleotide variant Long QT syndrome [RCV003648435] Chr7:92093147 [GRCh38]
Chr7:91722461 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6596A>G (p.Asp2199Gly) single nucleotide variant Long QT syndrome [RCV003648548] Chr7:92070993 [GRCh38]
Chr7:91700307 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8117C>G (p.Ala2706Gly) single nucleotide variant Long QT syndrome [RCV003648616] Chr7:92082619 [GRCh38]
Chr7:91711933 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4893G>A (p.Lys1631=) single nucleotide variant Long QT syndrome [RCV003648525] Chr7:92040874 [GRCh38]
Chr7:91670188 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9020C>G (p.Ala3007Gly) single nucleotide variant Long QT syndrome [RCV003648813] Chr7:92085682 [GRCh38]
Chr7:91714996 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5956G>A (p.Glu1986Lys) single nucleotide variant Long QT syndrome [RCV003648608] Chr7:92062465 [GRCh38]
Chr7:91691779 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10755T>G (p.Thr3585=) single nucleotide variant Long QT syndrome [RCV003648654] Chr7:92099728 [GRCh38]
Chr7:91729042 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8510C>G (p.Ala2837Gly) single nucleotide variant Long QT syndrome [RCV003648842] Chr7:92083519 [GRCh38]
Chr7:91712833 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7857T>C (p.His2619=) single nucleotide variant Long QT syndrome [RCV003882069] Chr7:92079990 [GRCh38]
Chr7:91709304 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7168G>A (p.Val2390Met) single nucleotide variant Long QT syndrome [RCV003648679] Chr7:92079301 [GRCh38]
Chr7:91708615 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8019+12A>G single nucleotide variant Long QT syndrome [RCV003648733] Chr7:92080164 [GRCh38]
Chr7:91709478 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9729+13T>C single nucleotide variant Long QT syndrome [RCV003648745] Chr7:92095186 [GRCh38]
Chr7:91724500 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6209A>T (p.Asp2070Val) single nucleotide variant Long QT syndrome [RCV003648747] Chr7:92065462 [GRCh38]
Chr7:91694776 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7616A>G (p.Lys2539Arg) single nucleotide variant Cardiovascular phenotype [RCV004374003]|Long QT syndrome [RCV003648778] Chr7:92079749 [GRCh38]
Chr7:91709063 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.11416+23del deletion Long QT syndrome [RCV003648930] Chr7:92105783 [GRCh38]
Chr7:91735097 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.2065A>G (p.Ile689Val) single nucleotide variant Cardiovascular phenotype [RCV004374207]|Long QT syndrome [RCV003648943] Chr7:92001982 [GRCh38]
Chr7:91631296 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8134G>A (p.Ala2712Thr) single nucleotide variant Cardiovascular phenotype [RCV004634365]|Long QT syndrome [RCV003826481] Chr7:92082636 [GRCh38]
Chr7:91711950 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.9125T>C (p.Leu3042Pro) single nucleotide variant AKAP9-related disorder [RCV004747407]|Long QT syndrome [RCV003882116] Chr7:92086328 [GRCh38]
Chr7:91715642 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.166A>G (p.Asn56Asp) single nucleotide variant Long QT syndrome [RCV003648812] Chr7:91973828 [GRCh38]
Chr7:91603142 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9183A>G (p.Leu3061=) single nucleotide variant Long QT syndrome [RCV003648825] Chr7:92086386 [GRCh38]
Chr7:91715700 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5754T>C (p.Ser1918=) single nucleotide variant Long QT syndrome [RCV003648909] Chr7:92061412 [GRCh38]
Chr7:91690726 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8244C>T (p.Ser2748=) single nucleotide variant Long QT syndrome [RCV003648937] Chr7:92083253 [GRCh38]
Chr7:91712567 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6613-18A>C single nucleotide variant Long QT syndrome [RCV003648979] Chr7:92076837 [GRCh38]
Chr7:91706151 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2433C>G (p.Ser811=) single nucleotide variant Long QT syndrome [RCV003648991] Chr7:92002350 [GRCh38]
Chr7:91631664 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7712G>A (p.Cys2571Tyr) single nucleotide variant Long QT syndrome [RCV003648999] Chr7:92079845 [GRCh38]
Chr7:91709159 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7482A>G (p.Ile2494Met) single nucleotide variant Long QT syndrome [RCV003647669] Chr7:92079615 [GRCh38]
Chr7:91708929 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2228A>C (p.Gln743Pro) single nucleotide variant Long QT syndrome [RCV003647715] Chr7:92002145 [GRCh38]
Chr7:91631459 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5601+4A>C single nucleotide variant Cardiovascular phenotype [RCV004371562]|Long QT syndrome [RCV003647297] Chr7:92052962 [GRCh38]
Chr7:91682276 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4453C>G (p.Gln1485Glu) single nucleotide variant Long QT syndrome [RCV003649039] Chr7:92038533 [GRCh38]
Chr7:91667847 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9980A>G (p.Gln3327Arg) single nucleotide variant Long QT syndrome [RCV003649042] Chr7:92096939 [GRCh38]
Chr7:91726253 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3952+11A>T single nucleotide variant Long QT syndrome [RCV003649083] Chr7:92022363 [GRCh38]
Chr7:91651677 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.905A>C (p.Gln302Pro) single nucleotide variant Long QT syndrome [RCV003649119] Chr7:91995775 [GRCh38]
Chr7:91625089 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4358T>G (p.Ile1453Arg) single nucleotide variant Long QT syndrome [RCV003648582] Chr7:92038438 [GRCh38]
Chr7:91667752 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3256G>A (p.Ala1086Thr) single nucleotide variant Long QT syndrome [RCV003648644] Chr7:92003173 [GRCh38]
Chr7:91632487 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10142A>G (p.Glu3381Gly) single nucleotide variant Long QT syndrome [RCV003648005] Chr7:92097101 [GRCh38]
Chr7:91726415 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2191_2194del (p.Leu731fs) deletion Long QT syndrome [RCV003648833] Chr7:92002107..92002110 [GRCh38]
Chr7:91631421..91631424 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.15G>T (p.Glu5Asp) single nucleotide variant Long QT syndrome [RCV003648738] Chr7:91941114 [GRCh38]
Chr7:91570428 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6898C>G (p.Gln2300Glu) single nucleotide variant Long QT syndrome [RCV003648748] Chr7:92077828 [GRCh38]
Chr7:91707142 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2394C>T (p.Ser798=) single nucleotide variant Long QT syndrome [RCV003648856] Chr7:92002311 [GRCh38]
Chr7:91631625 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9024+19G>T single nucleotide variant Long QT syndrome [RCV003648766] Chr7:92085705 [GRCh38]
Chr7:91715019 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2330A>G (p.Asn777Ser) single nucleotide variant Long QT syndrome [RCV003648951] Chr7:92002247 [GRCh38]
Chr7:91631561 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1230A>G (p.Lys410=) single nucleotide variant Long QT syndrome [RCV003881961] Chr7:92001147 [GRCh38]
Chr7:91630461 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8852A>C (p.His2951Pro) single nucleotide variant Long QT syndrome [RCV003648150] Chr7:92085514 [GRCh38]
Chr7:91714828 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5168C>T (p.Ala1723Val) single nucleotide variant Long QT syndrome [RCV003648817] Chr7:92045013 [GRCh38]
Chr7:91674327 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10310A>C (p.Gln3437Pro) single nucleotide variant Long QT syndrome [RCV003649014] Chr7:92097269 [GRCh38]
Chr7:91726583 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9952A>G (p.Arg3318Gly) single nucleotide variant Long QT syndrome [RCV003649032] Chr7:92096911 [GRCh38]
Chr7:91726225 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11687-5C>T single nucleotide variant Long QT syndrome [RCV003879123] Chr7:92110117 [GRCh38]
Chr7:91739431 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2983A>G (p.Arg995Gly) single nucleotide variant Long QT syndrome [RCV003649145] Chr7:92002900 [GRCh38]
Chr7:91632214 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.582A>G (p.Gln194=) single nucleotide variant Long QT syndrome [RCV003648700] Chr7:91994626 [GRCh38]
Chr7:91623940 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6333T>C (p.Val2111=) single nucleotide variant Long QT syndrome [RCV003648698] Chr7:92070032 [GRCh38]
Chr7:91699346 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4014A>C (p.Glu1338Asp) single nucleotide variant Long QT syndrome [RCV003648906] Chr7:92022875 [GRCh38]
Chr7:91652189 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.733-7T>C single nucleotide variant Long QT syndrome [RCV003648911] Chr7:91995596 [GRCh38]
Chr7:91624910 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9579-5C>G single nucleotide variant Long QT syndrome [RCV003647417] Chr7:92095018 [GRCh38]
Chr7:91724332 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6481C>T (p.Leu2161Phe) single nucleotide variant Long QT syndrome [RCV003648966] Chr7:92070180 [GRCh38]
Chr7:91699494 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4917+20C>A single nucleotide variant Long QT syndrome [RCV003648988] Chr7:92040918 [GRCh38]
Chr7:91670232 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5369-12C>T single nucleotide variant Long QT syndrome [RCV003647495] Chr7:92052714 [GRCh38]
Chr7:91682028 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1612A>G (p.Ser538Gly) single nucleotide variant Cardiovascular phenotype [RCV004371751]|Long QT syndrome [RCV003648375] Chr7:92001529 [GRCh38]
Chr7:91630843 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9880C>T (p.Arg3294Ter) single nucleotide variant Long QT syndrome [RCV003648994] Chr7:92096839 [GRCh38]
Chr7:91726153 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7551G>A (p.Gln2517=) single nucleotide variant Long QT syndrome [RCV003648997] Chr7:92079684 [GRCh38]
Chr7:91708998 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11049C>T (p.Asp3683=) single nucleotide variant Cardiovascular phenotype [RCV004374277]|Long QT syndrome [RCV003649019] Chr7:92101008 [GRCh38]
Chr7:91730322 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2529T>C (p.Ile843=) single nucleotide variant Long QT syndrome [RCV003648416] Chr7:92002446 [GRCh38]
Chr7:91631760 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9616C>T (p.Leu3206Phe) single nucleotide variant Long QT syndrome [RCV003648420] Chr7:92095060 [GRCh38]
Chr7:91724374 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8965A>G (p.Asn2989Asp) single nucleotide variant Long QT syndrome [RCV003649094] Chr7:92085627 [GRCh38]
Chr7:91714941 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3318+9_3318+12del deletion Long QT syndrome [RCV003648436] Chr7:92003242..92003245 [GRCh38]
Chr7:91632556..91632559 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4784T>C (p.Val1595Ala) single nucleotide variant Long QT syndrome [RCV003648444] Chr7:92040765 [GRCh38]
Chr7:91670079 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.306+10C>T single nucleotide variant Long QT syndrome [RCV003649064] Chr7:91973978 [GRCh38]
Chr7:91603292 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8447A>T (p.Glu2816Val) single nucleotide variant Long QT syndrome [RCV003649109] Chr7:92083456 [GRCh38]
Chr7:91712770 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10024G>A (p.Glu3342Lys) single nucleotide variant Long QT syndrome [RCV003649144] Chr7:92096983 [GRCh38]
Chr7:91726297 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7459G>C (p.Glu2487Gln) single nucleotide variant Cardiovascular phenotype [RCV004369577]|Long QT syndrome [RCV003878080] Chr7:92079592 [GRCh38]
Chr7:91708906 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10368T>C (p.Ser3456=) single nucleotide variant Long QT syndrome [RCV003647251] Chr7:92097327 [GRCh38]
Chr7:91726641 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3077T>G (p.Met1026Arg) single nucleotide variant Long QT syndrome [RCV003648487] Chr7:92002994 [GRCh38]
Chr7:91632308 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11396A>T (p.Asp3799Val) single nucleotide variant Long QT syndrome [RCV003648527] Chr7:92105743 [GRCh38]
Chr7:91735057 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7093A>C (p.Asn2365His) single nucleotide variant Long QT syndrome [RCV003648533] Chr7:92079226 [GRCh38]
Chr7:91708540 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5265G>A (p.Gly1755=) single nucleotide variant Long QT syndrome [RCV003648928] Chr7:92045110 [GRCh38]
Chr7:91674424 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5264G>A (p.Gly1755Glu) single nucleotide variant Long QT syndrome [RCV003648488] Chr7:92045109 [GRCh38]
Chr7:91674423 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.510G>A (p.Glu170=) single nucleotide variant Long QT syndrome [RCV003648518] Chr7:91992989 [GRCh38]
Chr7:91622303 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7938A>G (p.Leu2646=) single nucleotide variant Long QT syndrome [RCV003648995] Chr7:92080071 [GRCh38]
Chr7:91709385 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6265A>G (p.Lys2089Glu) single nucleotide variant Long QT syndrome [RCV003649021] Chr7:92066481 [GRCh38]
Chr7:91695795 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6G>A (p.Glu2=) single nucleotide variant Long QT syndrome [RCV003649030] Chr7:91941105 [GRCh38]
Chr7:91570419 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8380A>T (p.Thr2794Ser) single nucleotide variant Long QT syndrome [RCV003649067] Chr7:92083389 [GRCh38]
Chr7:91712703 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6612+16T>C single nucleotide variant Long QT syndrome [RCV003649148] Chr7:92071025 [GRCh38]
Chr7:91700339 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10975A>G (p.Lys3659Glu) single nucleotide variant Long QT syndrome [RCV003647388] Chr7:92100934 [GRCh38]
Chr7:91730248 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8646+16_8646+20del deletion Long QT syndrome [RCV003647445] Chr7:92083668..92083672 [GRCh38]
Chr7:91712982..91712986 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6514G>T (p.Asp2172Tyr) single nucleotide variant Long QT syndrome [RCV003649052] Chr7:92070911 [GRCh38]
Chr7:91700225 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9274T>C (p.Ser3092Pro) single nucleotide variant Long QT syndrome [RCV003647454] Chr7:92089445 [GRCh38]
Chr7:91718759 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4969T>C (p.Leu1657=) single nucleotide variant Long QT syndrome [RCV003647482] Chr7:92042097 [GRCh38]
Chr7:91671411 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11547-15T>G single nucleotide variant Long QT syndrome [RCV003648601] Chr7:92108479 [GRCh38]
Chr7:91737793 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3947A>T (p.Asp1316Val) single nucleotide variant Long QT syndrome [RCV003648636] Chr7:92022347 [GRCh38]
Chr7:91651661 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8695G>A (p.Glu2899Lys) single nucleotide variant Long QT syndrome [RCV003647556] Chr7:92084688 [GRCh38]
Chr7:91714002 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1772C>G (p.Ala591Gly) single nucleotide variant Long QT syndrome [RCV003648659] Chr7:92001689 [GRCh38]
Chr7:91631003 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8222C>T (p.Ala2741Val) single nucleotide variant Long QT syndrome [RCV003648714] Chr7:92083231 [GRCh38]
Chr7:91712545 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.44C>T (p.Ala15Val) single nucleotide variant Long QT syndrome [RCV003648762] Chr7:91941143 [GRCh38]
Chr7:91570457 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9352A>T (p.Ser3118Cys) single nucleotide variant Long QT syndrome [RCV003648796] Chr7:92089523 [GRCh38]
Chr7:91718837 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4041A>C (p.Ile1347=) single nucleotide variant Long QT syndrome [RCV003648701] Chr7:92022902 [GRCh38]
Chr7:91652216 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7919A>C (p.Glu2640Ala) single nucleotide variant Long QT syndrome [RCV003648880] Chr7:92080052 [GRCh38]
Chr7:91709366 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9601G>A (p.Asp3201Asn) single nucleotide variant Long QT syndrome [RCV003648138] Chr7:92095045 [GRCh38]
Chr7:91724359 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8767A>G (p.Ile2923Val) single nucleotide variant Long QT syndrome [RCV003648882] Chr7:92084875 [GRCh38]
Chr7:91714189 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7578A>G (p.Gln2526=) single nucleotide variant Long QT syndrome [RCV003648689] Chr7:92079711 [GRCh38]
Chr7:91709025 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3240G>T (p.Lys1080Asn) single nucleotide variant Cardiovascular phenotype [RCV004366757]|Long QT syndrome [RCV003824894] Chr7:92003157 [GRCh38]
Chr7:91632471 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.7443A>G (p.Thr2481=) single nucleotide variant Long QT syndrome [RCV003648916] Chr7:92079576 [GRCh38]
Chr7:91708890 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8646+20T>C single nucleotide variant Long QT syndrome [RCV003648921] Chr7:92083675 [GRCh38]
Chr7:91712989 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6885_6888del (p.Asp2295_Gln2296insTer) deletion Long QT syndrome [RCV003648378] Chr7:92077814..92077817 [GRCh38]
Chr7:91707128..91707131 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7530A>C (p.Ala2510=) single nucleotide variant Long QT syndrome [RCV003648600] Chr7:92079663 [GRCh38]
Chr7:91708977 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9025-16A>G single nucleotide variant Long QT syndrome [RCV003648640] Chr7:92086212 [GRCh38]
Chr7:91715526 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9868G>A (p.Glu3290Lys) single nucleotide variant Cardiovascular phenotype [RCV004371917]|Long QT syndrome [RCV003648646] Chr7:92096827 [GRCh38]
Chr7:91726141 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1265T>C (p.Met422Thr) single nucleotide variant Long QT syndrome [RCV003647737] Chr7:92001182 [GRCh38]
Chr7:91630496 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7453T>C (p.Ser2485Pro) single nucleotide variant Long QT syndrome [RCV003647733] Chr7:92079586 [GRCh38]
Chr7:91708900 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8434T>G (p.Cys2812Gly) single nucleotide variant Long QT syndrome [RCV003648614] Chr7:92083443 [GRCh38]
Chr7:91712757 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3853A>G (p.Thr1285Ala) single nucleotide variant Cardiovascular phenotype [RCV004373902]|Long QT syndrome [RCV003648648] Chr7:92022253 [GRCh38]
Chr7:91651567 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.546G>C (p.Arg182Ser) single nucleotide variant Long QT syndrome [RCV003648661] Chr7:91993025 [GRCh38]
Chr7:91622339 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.753G>A (p.Leu251=) single nucleotide variant Long QT syndrome [RCV003878033] Chr7:91995623 [GRCh38]
Chr7:91624937 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2454G>A (p.Trp818Ter) single nucleotide variant Long QT syndrome [RCV003648737] Chr7:92002371 [GRCh38]
Chr7:91631685 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9673G>A (p.Glu3225Lys) single nucleotide variant Long QT syndrome [RCV003648708] Chr7:92095117 [GRCh38]
Chr7:91724431 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2754T>C (p.Asp918=) single nucleotide variant Long QT syndrome [RCV003648638] Chr7:92002671 [GRCh38]
Chr7:91631985 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11686+8G>A single nucleotide variant Long QT syndrome [RCV003648662] Chr7:92108641 [GRCh38]
Chr7:91737955 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5853GTT[1] (p.Leu1953del) microsatellite Long QT syndrome [RCV003648450] Chr7:92062362..92062364 [GRCh38]
Chr7:91691676..91691678 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9408_9409delinsAT (p.Met3136_Gln3137delinsIleTer) indel Long QT syndrome [RCV003647591] Chr7:92093146..92093147 [GRCh38]
Chr7:91722460..91722461 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2072A>C (p.Lys691Thr) single nucleotide variant Long QT syndrome [RCV003648407] Chr7:92001989 [GRCh38]
Chr7:91631303 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4918-12T>C single nucleotide variant Long QT syndrome [RCV003877242] Chr7:92042034 [GRCh38]
Chr7:91671348 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5163-10A>G single nucleotide variant Long QT syndrome [RCV003647630] Chr7:92044998 [GRCh38]
Chr7:91674312 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4674A>G (p.Thr1558=) single nucleotide variant Long QT syndrome [RCV003647572] Chr7:92038754 [GRCh38]
Chr7:91668068 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8929T>G (p.Ser2977Ala) single nucleotide variant Long QT syndrome [RCV003882729] Chr7:92085591 [GRCh38]
Chr7:91714905 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.155_156del (p.His52fs) microsatellite Long QT syndrome [RCV003648250] Chr7:91973814..91973815 [GRCh38]
Chr7:91603128..91603129 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9843A>C (p.Arg3281Ser) single nucleotide variant Long QT syndrome [RCV003882730] Chr7:92096802 [GRCh38]
Chr7:91726116 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10897-10G>T single nucleotide variant AKAP9-related disorder [RCV003929282]|Long QT syndrome [RCV003648490] Chr7:92100846 [GRCh38]
Chr7:91730160 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8397T>A (p.Val2799=) single nucleotide variant Cardiovascular phenotype [RCV004371659]|Long QT syndrome [RCV003647677] Chr7:92083406 [GRCh38]
Chr7:91712720 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7651G>A (p.Val2551Met) single nucleotide variant Long QT syndrome [RCV003647681] Chr7:92079784 [GRCh38]
Chr7:91709098 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5058+10A>G single nucleotide variant Long QT syndrome [RCV003648280] Chr7:92042196 [GRCh38]
Chr7:91671510 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9652A>G (p.Arg3218Gly) single nucleotide variant Long QT syndrome [RCV003647345] Chr7:92095096 [GRCh38]
Chr7:91724410 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4338+11A>G single nucleotide variant Long QT syndrome [RCV003648545] Chr7:92031615 [GRCh38]
Chr7:91660929 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9947T>A (p.Leu3316Gln) single nucleotide variant Long QT syndrome [RCV003647717] Chr7:92096906 [GRCh38]
Chr7:91726220 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1821G>A (p.Lys607=) single nucleotide variant Long QT syndrome [RCV003531886] Chr7:92001738 [GRCh38]
Chr7:91631052 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5369-12C>G single nucleotide variant Long QT syndrome [RCV003811762] Chr7:92052714 [GRCh38]
Chr7:91682028 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10600del (p.Ser3534fs) deletion Long QT syndrome [RCV003534060] Chr7:92097787 [GRCh38]
Chr7:91727101 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5678_5679insAAT (p.Leu1893_Lys1894insIle) insertion Long QT syndrome [RCV003532379] Chr7:92061335..92061336 [GRCh38]
Chr7:91690649..91690650 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6641A>G (p.Gln2214Arg) single nucleotide variant Long QT syndrome [RCV003532381] Chr7:92076883 [GRCh38]
Chr7:91706197 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11330+9T>C single nucleotide variant Long QT syndrome [RCV003532423] Chr7:92102835 [GRCh38]
Chr7:91732149 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.880T>A (p.Phe294Ile) single nucleotide variant Long QT syndrome [RCV003534175] Chr7:91995750 [GRCh38]
Chr7:91625064 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4034G>C (p.Ser1345Thr) single nucleotide variant Long QT syndrome [RCV003532528] Chr7:92022895 [GRCh38]
Chr7:91652209 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4604C>T (p.Pro1535Leu) single nucleotide variant Long QT syndrome [RCV003534229] Chr7:92038684 [GRCh38]
Chr7:91667998 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9359-19_9359-18dup duplication Long QT syndrome [RCV003534225] Chr7:92093077..92093078 [GRCh38]
Chr7:91722391..91722392 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9478G>A (p.Val3160Met) single nucleotide variant Long QT syndrome [RCV003534233] Chr7:92093216 [GRCh38]
Chr7:91722530 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1928A>T (p.Asp643Val) single nucleotide variant Long QT syndrome [RCV003534274] Chr7:92001845 [GRCh38]
Chr7:91631159 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2861A>G (p.Glu954Gly) single nucleotide variant Long QT syndrome [RCV003810663] Chr7:92002778 [GRCh38]
Chr7:91632092 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6505A>C (p.Lys2169Gln) single nucleotide variant Long QT syndrome [RCV003531410] Chr7:92070204 [GRCh38]
Chr7:91699518 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3181_3182del (p.Val1061fs) deletion Long QT syndrome [RCV003531427] Chr7:92003097..92003098 [GRCh38]
Chr7:91632411..91632412 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5059-16A>G single nucleotide variant Long QT syndrome [RCV003531471] Chr7:92042652 [GRCh38]
Chr7:91671966 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1022A>T (p.Glu341Val) single nucleotide variant Cardiovascular phenotype [RCV004366906]|Long QT syndrome [RCV003832394] Chr7:92000939 [GRCh38]
Chr7:91630253 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10033C>A (p.Leu3345Met) single nucleotide variant Long QT syndrome [RCV003531508] Chr7:92096992 [GRCh38]
Chr7:91726306 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4410T>C (p.Asn1470=) single nucleotide variant Long QT syndrome [RCV003531650] Chr7:92038490 [GRCh38]
Chr7:91667804 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8961C>T (p.Tyr2987=) single nucleotide variant Long QT syndrome [RCV003531609] Chr7:92085623 [GRCh38]
Chr7:91714937 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.462G>A (p.Pro154=) single nucleotide variant Cardiovascular phenotype [RCV004369317]|Long QT syndrome [RCV003531636] Chr7:91992941 [GRCh38]
Chr7:91622255 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8140A>G (p.Lys2714Glu) single nucleotide variant Long QT syndrome [RCV003531766] Chr7:92082642 [GRCh38]
Chr7:91711956 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4824A>G (p.Leu1608=) single nucleotide variant Long QT syndrome [RCV003533908] Chr7:92040805 [GRCh38]
Chr7:91670119 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10528C>T (p.His3510Tyr) single nucleotide variant Cardiovascular phenotype [RCV004369085]|Long QT syndrome [RCV003534148] Chr7:92097715 [GRCh38]
Chr7:91727029 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9730-8C>T single nucleotide variant Long QT syndrome [RCV003531521] Chr7:92096681 [GRCh38]
Chr7:91725995 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.869A>C (p.Lys290Thr) single nucleotide variant Long QT syndrome [RCV003534181] Chr7:91995739 [GRCh38]
Chr7:91625053 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7980A>G (p.Lys2660=) single nucleotide variant Long QT syndrome [RCV003531578] Chr7:92080113 [GRCh38]
Chr7:91709427 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3119A>T (p.Lys1040Ile) single nucleotide variant Long QT syndrome [RCV003531594] Chr7:92003036 [GRCh38]
Chr7:91632350 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3581C>G (p.Ala1194Gly) single nucleotide variant Long QT syndrome [RCV003532533] Chr7:92014297 [GRCh38]
Chr7:91643611 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10417dup (p.Thr3473fs) duplication Cardiovascular phenotype [RCV004366912]|Long QT syndrome [RCV003840578] Chr7:92097602..92097603 [GRCh38]
Chr7:91726916..91726917 [GRCh37]
Chr7:7q21.2		 likely benign|uncertain significance
NM_005751.5(AKAP9):c.6766-18A>C single nucleotide variant Long QT syndrome [RCV003531600] Chr7:92077678 [GRCh38]
Chr7:91706992 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1341A>G (p.Gln447=) single nucleotide variant Long QT syndrome [RCV003531643] Chr7:92001258 [GRCh38]
Chr7:91630572 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7999C>G (p.Gln2667Glu) single nucleotide variant Long QT syndrome [RCV003534277] Chr7:92080132 [GRCh38]
Chr7:91709446 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4241del (p.Ile1414fs) deletion Long QT syndrome [RCV003531670] Chr7:92029987 [GRCh38]
Chr7:91659301 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7271A>C (p.Asn2424Thr) single nucleotide variant Long QT syndrome [RCV003855934] Chr7:92079404 [GRCh38]
Chr7:91708718 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8846C>T (p.Ala2949Val) single nucleotide variant Long QT syndrome [RCV003531699] Chr7:92085508 [GRCh38]
Chr7:91714822 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3751+6A>T single nucleotide variant Long QT syndrome [RCV003531721] Chr7:92016273 [GRCh38]
Chr7:91645587 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1288_1289inv (p.Leu430Lys) inversion Long QT syndrome [RCV003816089] Chr7:92001205..92001206 [GRCh38]
Chr7:91630519..91630520 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.193A>G (p.Met65Val) single nucleotide variant Long QT syndrome [RCV003533887] Chr7:91973855 [GRCh38]
Chr7:91603169 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9276T>C (p.Ser3092=) single nucleotide variant Long QT syndrome [RCV003832145] Chr7:92089447 [GRCh38]
Chr7:91718761 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9396_9397del (p.Gln3132fs) deletion Long QT syndrome [RCV003533896] Chr7:92093133..92093134 [GRCh38]
Chr7:91722447..91722448 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3085A>G (p.Arg1029Gly) single nucleotide variant Long QT syndrome [RCV003533916] Chr7:92003002 [GRCh38]
Chr7:91632316 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2019_2023del (p.Met674fs) microsatellite Long QT syndrome [RCV003531869] Chr7:92001931..92001935 [GRCh38]
Chr7:91631245..91631249 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5356G>C (p.Glu1786Gln) single nucleotide variant Long QT syndrome [RCV003531664] Chr7:92045201 [GRCh38]
Chr7:91674515 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4338+7T>G single nucleotide variant Long QT syndrome [RCV003531799] Chr7:92031611 [GRCh38]
Chr7:91660925 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1295A>C (p.Gln432Pro) single nucleotide variant Long QT syndrome [RCV003533998] Chr7:92001212 [GRCh38]
Chr7:91630526 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9579-6A>T single nucleotide variant Long QT syndrome [RCV003850784] Chr7:92095017 [GRCh38]
Chr7:91724331 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7526G>A (p.Ser2509Asn) single nucleotide variant Long QT syndrome [RCV003531429] Chr7:92079659 [GRCh38]
Chr7:91708973 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11417-10del deletion Long QT syndrome [RCV003532383] Chr7:92107281 [GRCh38]
Chr7:91736595 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3931A>T (p.Met1311Leu) single nucleotide variant Long QT syndrome [RCV003532406] Chr7:92022331 [GRCh38]
Chr7:91651645 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7440G>A (p.Gln2480=) single nucleotide variant Long QT syndrome [RCV003534097] Chr7:92079573 [GRCh38]
Chr7:91708887 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6821A>C (p.Gln2274Pro) single nucleotide variant Long QT syndrome [RCV003532484] Chr7:92077751 [GRCh38]
Chr7:91707065 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5593A>C (p.Ser1865Arg) single nucleotide variant Cardiovascular phenotype [RCV004366846]|Long QT syndrome [RCV003837811] Chr7:92052950 [GRCh38]
Chr7:91682264 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4899T>C (p.Leu1633=) single nucleotide variant Long QT syndrome [RCV003531645] Chr7:92040880 [GRCh38]
Chr7:91670194 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5602-10_5602-9del microsatellite Long QT syndrome [RCV003531655] Chr7:92061248..92061249 [GRCh38]
Chr7:91690562..91690563 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8242T>C (p.Ser2748Pro) single nucleotide variant Long QT syndrome [RCV003531744] Chr7:92083251 [GRCh38]
Chr7:91712565 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2567A>G (p.Asn856Ser) single nucleotide variant Long QT syndrome [RCV003839482] Chr7:92002484 [GRCh38]
Chr7:91631798 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3613-16A>G single nucleotide variant Long QT syndrome [RCV003531818] Chr7:92016113 [GRCh38]
Chr7:91645427 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11128A>G (p.Ser3710Gly) single nucleotide variant Long QT syndrome [RCV003533921] Chr7:92102624 [GRCh38]
Chr7:91731938 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5765-14A>G single nucleotide variant Long QT syndrome [RCV003532410] Chr7:92062260 [GRCh38]
Chr7:91691574 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3953-19G>A single nucleotide variant Long QT syndrome [RCV003534232] Chr7:92022795 [GRCh38]
Chr7:91652109 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4408A>G (p.Asn1470Asp) single nucleotide variant Long QT syndrome [RCV003836770] Chr7:92038488 [GRCh38]
Chr7:91667802 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1201G>T (p.Val401Phe) single nucleotide variant Long QT syndrome [RCV003531455] Chr7:92001118 [GRCh38]
Chr7:91630432 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7357G>C (p.Val2453Leu) single nucleotide variant Long QT syndrome [RCV003534199] Chr7:92079490 [GRCh38]
Chr7:91708804 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4338+20G>A single nucleotide variant Long QT syndrome [RCV003534116] Chr7:92031624 [GRCh38]
Chr7:91660938 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8958T>C (p.Ala2986=) single nucleotide variant Long QT syndrome [RCV003531631] Chr7:92085620 [GRCh38]
Chr7:91714934 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7365A>G (p.Ile2455Met) single nucleotide variant Long QT syndrome [RCV003810847] Chr7:92079498 [GRCh38]
Chr7:91708812 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1774G>A (p.Glu592Lys) single nucleotide variant Long QT syndrome [RCV003531816] Chr7:92001691 [GRCh38]
Chr7:91631005 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4151T>A (p.Leu1384Ter) single nucleotide variant Long QT syndrome [RCV003533939] Chr7:92029897 [GRCh38]
Chr7:91659211 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1957G>T (p.Glu653Ter) single nucleotide variant Long QT syndrome [RCV003533964] Chr7:92001874 [GRCh38]
Chr7:91631188 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4387A>G (p.Arg1463Gly) single nucleotide variant Long QT syndrome [RCV003531428] Chr7:92038467 [GRCh38]
Chr7:91667781 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.380C>T (p.Thr127Ile) single nucleotide variant Long QT syndrome [RCV003531447] Chr7:91992186 [GRCh38]
Chr7:91621500 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3395G>A (p.Arg1132His) single nucleotide variant Long QT syndrome [RCV003532525] Chr7:92012505 [GRCh38]
Chr7:91641819 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9467C>G (p.Ser3156Cys) single nucleotide variant Long QT syndrome [RCV003534222] Chr7:92093205 [GRCh38]
Chr7:91722519 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4246-9T>C single nucleotide variant Long QT syndrome [RCV003534230] Chr7:92031503 [GRCh38]
Chr7:91660817 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2110G>T (p.Asp704Tyr) single nucleotide variant Long QT syndrome [RCV003534261] Chr7:92002027 [GRCh38]
Chr7:91631341 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10447C>G (p.Gln3483Glu) single nucleotide variant Long QT syndrome [RCV003531598] Chr7:92097634 [GRCh38]
Chr7:91726948 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3365T>A (p.Leu1122Gln) single nucleotide variant Long QT syndrome [RCV003531638] Chr7:92012475 [GRCh38]
Chr7:91641789 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10062A>G (p.Glu3354=) single nucleotide variant Long QT syndrome [RCV003849442] Chr7:92097021 [GRCh38]
Chr7:91726335 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6797A>G (p.Lys2266Arg) single nucleotide variant Long QT syndrome [RCV003531850] Chr7:92077727 [GRCh38]
Chr7:91707041 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9180A>G (p.Leu3060=) single nucleotide variant Long QT syndrome [RCV003533952] Chr7:92086383 [GRCh38]
Chr7:91715697 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3715G>C (p.Asp1239His) single nucleotide variant Long QT syndrome [RCV003832193] Chr7:92016231 [GRCh38]
Chr7:91645545 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2528T>C (p.Ile843Thr) single nucleotide variant Long QT syndrome [RCV003534002] Chr7:92002445 [GRCh38]
Chr7:91631759 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5162+14G>T single nucleotide variant Long QT syndrome [RCV003865943] Chr7:92042785 [GRCh38]
Chr7:91672099 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10714-19C>A single nucleotide variant Long QT syndrome [RCV003818891] Chr7:92099668 [GRCh38]
Chr7:91728982 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10063A>G (p.Lys3355Glu) single nucleotide variant Cardiovascular phenotype [RCV004634392]|Long QT syndrome [RCV003857295] Chr7:92097022 [GRCh38]
Chr7:91726336 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4338+14T>G single nucleotide variant Long QT syndrome [RCV003854133] Chr7:92031618 [GRCh38]
Chr7:91660932 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5631G>A (p.Glu1877=) single nucleotide variant Long QT syndrome [RCV003843154] Chr7:92061289 [GRCh38]
Chr7:91690603 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7618A>G (p.Ile2540Val) single nucleotide variant Long QT syndrome [RCV003869396] Chr7:92079751 [GRCh38]
Chr7:91709065 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4631G>C (p.Cys1544Ser) single nucleotide variant Long QT syndrome [RCV003869394] Chr7:92038711 [GRCh38]
Chr7:91668025 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10568C>T (p.Ala3523Val) single nucleotide variant Cardiovascular phenotype [RCV004634396]|Long QT syndrome [RCV003867998] Chr7:92097755 [GRCh38]
Chr7:91727069 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9235A>G (p.Met3079Val) single nucleotide variant Long QT syndrome [RCV003871615] Chr7:92089406 [GRCh38]
Chr7:91718720 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7768A>T (p.Asn2590Tyr) single nucleotide variant Long QT syndrome [RCV003867640] Chr7:92079901 [GRCh38]
Chr7:91709215 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8782C>A (p.Arg2928=) single nucleotide variant Cardiovascular phenotype [RCV004634379]|Long QT syndrome [RCV003846118] Chr7:92084890 [GRCh38]
Chr7:91714204 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2605G>T (p.Ala869Ser) single nucleotide variant Long QT syndrome [RCV003841461] Chr7:92002522 [GRCh38]
Chr7:91631836 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8710+10A>G single nucleotide variant Long QT syndrome [RCV003870881] Chr7:92084713 [GRCh38]
Chr7:91714027 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11686+7dup duplication AKAP9-related disorder [RCV003941396] Chr7:92108639..92108640 [GRCh38]
Chr7:91737953..91737954 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9880C>A (p.Arg3294=) single nucleotide variant Long QT syndrome [RCV003852947] Chr7:92096839 [GRCh38]
Chr7:91726153 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11218C>T (p.Leu3740Phe) single nucleotide variant Long QT syndrome [RCV003822051] Chr7:92102714 [GRCh38]
Chr7:91732028 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3318+20T>C single nucleotide variant Long QT syndrome [RCV003819934] Chr7:92003255 [GRCh38]
Chr7:91632569 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11235del (p.Gln3746fs) deletion Long QT syndrome [RCV003860468] Chr7:92102725 [GRCh38]
Chr7:91732039 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6977A>C (p.Asp2326Ala) single nucleotide variant AKAP9-related disorder [RCV003982808] Chr7:92079110 [GRCh38]
Chr7:91708424 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2216G>C (p.Gly739Ala) single nucleotide variant Cardiovascular phenotype [RCV004521715] Chr7:92002133 [GRCh38]
Chr7:91631447 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2316A>G (p.Gln772=) single nucleotide variant Cardiovascular phenotype [RCV004521717] Chr7:92002233 [GRCh38]
Chr7:91631547 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2465T>C (p.Ile822Thr) single nucleotide variant Cardiovascular phenotype [RCV004521719] Chr7:92002382 [GRCh38]
Chr7:91631696 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2590T>C (p.Leu864=) single nucleotide variant Cardiovascular phenotype [RCV004521720] Chr7:92002507 [GRCh38]
Chr7:91631821 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2825T>C (p.Met942Thr) single nucleotide variant Cardiovascular phenotype [RCV004521721] Chr7:92002742 [GRCh38]
Chr7:91632056 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.284A>G (p.His95Arg) single nucleotide variant Cardiovascular phenotype [RCV004521722] Chr7:91973946 [GRCh38]
Chr7:91603260 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3100T>A (p.Ser1034Thr) single nucleotide variant Cardiovascular phenotype [RCV004521727] Chr7:92003017 [GRCh38]
Chr7:91632331 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3265C>A (p.Pro1089Thr) single nucleotide variant Cardiovascular phenotype [RCV004521731] Chr7:92003182 [GRCh38]
Chr7:91632496 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5528T>A (p.Met1843Lys) single nucleotide variant Long QT syndrome 11 [RCV003991983] Chr7:92052885 [GRCh38]
Chr7:91682199 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10072C>T (p.Arg3358Cys) single nucleotide variant Cardiovascular phenotype [RCV004521685] Chr7:92097031 [GRCh38]
Chr7:91726345 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10202G>A (p.Gly3401Glu) single nucleotide variant Cardiovascular phenotype [RCV004521686] Chr7:92097161 [GRCh38]
Chr7:91726475 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1029_1033del (p.Lys343fs) microsatellite Cardiovascular phenotype [RCV004521688] Chr7:92000939..92000943 [GRCh38]
Chr7:91630253..91630257 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10348C>T (p.Arg3450Ter) single nucleotide variant Cardiovascular phenotype [RCV004521690] Chr7:92097307 [GRCh38]
Chr7:91726621 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10629T>C (p.Asp3543=) single nucleotide variant Cardiovascular phenotype [RCV004521692] Chr7:92098130 [GRCh38]
Chr7:91727444 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10787C>T (p.Thr3596Ile) single nucleotide variant Cardiovascular phenotype [RCV004521693] Chr7:92099760 [GRCh38]
Chr7:91729074 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10799G>A (p.Ser3600Asn) single nucleotide variant Cardiovascular phenotype [RCV004521694] Chr7:92099772 [GRCh38]
Chr7:91729086 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10941C>T (p.Ile3647=) single nucleotide variant Cardiovascular phenotype [RCV004521695] Chr7:92100900 [GRCh38]
Chr7:91730214 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10961T>C (p.Val3654Ala) single nucleotide variant Cardiovascular phenotype [RCV004521696] Chr7:92100920 [GRCh38]
Chr7:91730234 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11015A>C (p.Glu3672Ala) single nucleotide variant Cardiovascular phenotype [RCV004521697] Chr7:92100974 [GRCh38]
Chr7:91730288 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.11083C>T (p.His3695Tyr) single nucleotide variant Cardiovascular phenotype [RCV004521698] Chr7:92101042 [GRCh38]
Chr7:91730356 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11369G>A (p.Gly3790Asp) single nucleotide variant Cardiovascular phenotype [RCV004521699] Chr7:92105716 [GRCh38]
Chr7:91735030 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11633A>G (p.Asp3878Gly) single nucleotide variant Cardiovascular phenotype [RCV004521700] Chr7:92108580 [GRCh38]
Chr7:91737894 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.116dup (p.Arg40fs) duplication Cardiovascular phenotype [RCV004521701] Chr7:91973770..91973771 [GRCh38]
Chr7:91603084..91603085 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1185A>G (p.Lys395=) single nucleotide variant Cardiovascular phenotype [RCV004521702] Chr7:92001102 [GRCh38]
Chr7:91630416 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10218T>C (p.His3406=) single nucleotide variant Cardiovascular phenotype [RCV004521687] Chr7:92097177 [GRCh38]
Chr7:91726491 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1579C>G (p.Gln527Glu) single nucleotide variant Cardiovascular phenotype [RCV004521709] Chr7:92001496 [GRCh38]
Chr7:91630810 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1208A>C (p.Glu403Ala) single nucleotide variant Cardiovascular phenotype [RCV004521703] Chr7:92001125 [GRCh38]
Chr7:91630439 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1252A>G (p.Ile418Val) single nucleotide variant Cardiovascular phenotype [RCV004521704] Chr7:92001169 [GRCh38]
Chr7:91630483 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.125C>T (p.Thr42Met) single nucleotide variant Cardiovascular phenotype [RCV004521705] Chr7:91973787 [GRCh38]
Chr7:91603101 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.128C>T (p.Ser43Leu) single nucleotide variant Cardiovascular phenotype [RCV004521706] Chr7:91973790 [GRCh38]
Chr7:91603104 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1439A>G (p.Asn480Ser) single nucleotide variant Cardiovascular phenotype [RCV004521707] Chr7:92001356 [GRCh38]
Chr7:91630670 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1492C>T (p.Leu498=) single nucleotide variant Cardiovascular phenotype [RCV004521708] Chr7:92001409 [GRCh38]
Chr7:91630723 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1596C>A (p.Asp532Glu) single nucleotide variant Cardiovascular phenotype [RCV004521710] Chr7:92001513 [GRCh38]
Chr7:91630827 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1846G>A (p.Glu616Lys) single nucleotide variant Cardiovascular phenotype [RCV004521711] Chr7:92001763 [GRCh38]
Chr7:91631077 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2118G>T (p.Gln706His) single nucleotide variant Cardiovascular phenotype [RCV004521713] Chr7:92002035 [GRCh38]
Chr7:91631349 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3612G>A (p.Gln1204=) single nucleotide variant Cardiovascular phenotype [RCV004521737] Chr7:92014328 [GRCh38]
Chr7:91643642 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3659G>C (p.Cys1220Ser) single nucleotide variant Cardiovascular phenotype [RCV004521738] Chr7:92016175 [GRCh38]
Chr7:91645489 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3766A>G (p.Met1256Val) single nucleotide variant Cardiovascular phenotype [RCV004521739] Chr7:92017031 [GRCh38]
Chr7:91646345 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3770A>G (p.His1257Arg) single nucleotide variant Cardiovascular phenotype [RCV004521740] Chr7:92017035 [GRCh38]
Chr7:91646349 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3772A>G (p.Thr1258Ala) single nucleotide variant Cardiovascular phenotype [RCV004521741] Chr7:92017037 [GRCh38]
Chr7:91646351 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3778C>T (p.Leu1260Phe) single nucleotide variant Cardiovascular phenotype [RCV004521742] Chr7:92017043 [GRCh38]
Chr7:91646357 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.405+1G>A single nucleotide variant Cardiovascular phenotype [RCV004521746] Chr7:91992212 [GRCh38]
Chr7:91621526 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4214G>C (p.Cys1405Ser) single nucleotide variant Cardiovascular phenotype [RCV004521748] Chr7:92029960 [GRCh38]
Chr7:91659274 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4281T>A (p.Asn1427Lys) single nucleotide variant Cardiovascular phenotype [RCV004521749] Chr7:92031547 [GRCh38]
Chr7:91660861 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4596T>C (p.Asn1532=) single nucleotide variant Cardiovascular phenotype [RCV004521750] Chr7:92038676 [GRCh38]
Chr7:91667990 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4688A>T (p.Gln1563Leu) single nucleotide variant Cardiovascular phenotype [RCV004521752] Chr7:92038768 [GRCh38]
Chr7:91668082 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5088A>G (p.Glu1696=) single nucleotide variant Cardiovascular phenotype [RCV004521753] Chr7:92042697 [GRCh38]
Chr7:91672011 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5281A>G (p.Ser1761Gly) single nucleotide variant Cardiovascular phenotype [RCV004521755] Chr7:92045126 [GRCh38]
Chr7:91674440 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5371A>G (p.Thr1791Ala) single nucleotide variant Cardiovascular phenotype [RCV004521756] Chr7:92052728 [GRCh38]
Chr7:91682042 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5377G>A (p.Glu1793Lys) single nucleotide variant Cardiovascular phenotype [RCV004521757] Chr7:92052734 [GRCh38]
Chr7:91682048 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5458G>C (p.Glu1820Gln) single nucleotide variant Cardiovascular phenotype [RCV004521758] Chr7:92052815 [GRCh38]
Chr7:91682129 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5713G>A (p.Glu1905Lys) single nucleotide variant Cardiovascular phenotype [RCV004521761] Chr7:92061371 [GRCh38]
Chr7:91690685 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5841T>C (p.Arg1947=) single nucleotide variant Cardiovascular phenotype [RCV004521764] Chr7:92062350 [GRCh38]
Chr7:91691664 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5980T>C (p.Leu1994=) single nucleotide variant Cardiovascular phenotype [RCV004521765] Chr7:92065233 [GRCh38]
Chr7:91694547 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10368_10370del (p.Ser3456del) deletion Cardiovascular phenotype [RCV004521691] Chr7:92097325..92097327 [GRCh38]
Chr7:91726639..91726641 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1868_1871del (p.Glu623fs) microsatellite Cardiovascular phenotype [RCV004521712] Chr7:92001783..92001786 [GRCh38]
Chr7:91631097..91631100 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3184G>A (p.Gly1062Arg) single nucleotide variant Cardiovascular phenotype [RCV004521729] Chr7:92003101 [GRCh38]
Chr7:91632415 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3247T>C (p.Ser1083Pro) single nucleotide variant Cardiovascular phenotype [RCV004521730] Chr7:92003164 [GRCh38]
Chr7:91632478 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3533G>A (p.Gly1178Asp) single nucleotide variant Cardiovascular phenotype [RCV004521733] Chr7:92014249 [GRCh38]
Chr7:91643563 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.356A>G (p.Asn119Ser) single nucleotide variant Cardiovascular phenotype [RCV004521735] Chr7:91992162 [GRCh38]
Chr7:91621476 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.378A>G (p.Arg126=) single nucleotide variant Cardiovascular phenotype [RCV004521743] Chr7:91992184 [GRCh38]
Chr7:91621498 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4133C>A (p.Ser1378Tyr) single nucleotide variant Cardiovascular phenotype [RCV004521747] Chr7:92022994 [GRCh38]
Chr7:91652308 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6036T>G (p.Ala2012=) single nucleotide variant Cardiovascular phenotype [RCV004521766] Chr7:92065289 [GRCh38]
Chr7:91694603 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6268C>T (p.Leu2090=) single nucleotide variant Cardiovascular phenotype [RCV004521768] Chr7:92066484 [GRCh38]
Chr7:91695798 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6380A>G (p.Glu2127Gly) single nucleotide variant Cardiovascular phenotype [RCV004521769] Chr7:92070079 [GRCh38]
Chr7:91699393 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6392C>A (p.Ser2131Tyr) single nucleotide variant Cardiovascular phenotype [RCV004521770] Chr7:92070091 [GRCh38]
Chr7:91699405 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6772A>G (p.Met2258Val) single nucleotide variant Cardiovascular phenotype [RCV004521772] Chr7:92077702 [GRCh38]
Chr7:91707016 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6891_6892insT (p.Asn2298Ter) insertion Cardiovascular phenotype [RCV004521773] Chr7:92077821..92077822 [GRCh38]
Chr7:91707135..91707136 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3024T>C (p.Asn1008=) single nucleotide variant Cardiovascular phenotype [RCV004521724] Chr7:92002941 [GRCh38]
Chr7:91632255 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3554A>G (p.His1185Arg) single nucleotide variant Cardiovascular phenotype [RCV004521734] Chr7:92014270 [GRCh38]
Chr7:91643584 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3837+2T>C single nucleotide variant Cardiovascular phenotype [RCV004521744] Chr7:92017104 [GRCh38]
Chr7:91646418 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3860G>T (p.Gly1287Val) single nucleotide variant Cardiovascular phenotype [RCV004521745] Chr7:92022260 [GRCh38]
Chr7:91651574 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5562T>G (p.Val1854=) single nucleotide variant Cardiovascular phenotype [RCV004521760] Chr7:92052919 [GRCh38]
Chr7:91682233 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10270CAA[1] (p.Gln3425del) microsatellite AKAP9-related disorder [RCV003937272] Chr7:92097228..92097230 [GRCh38]
Chr7:91726542..91726544 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8717G>T (p.Gly2906Val) single nucleotide variant Cardiovascular phenotype [RCV004523754] Chr7:92084825 [GRCh38]
Chr7:91714139 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8754T>C (p.Ser2918=) single nucleotide variant Cardiovascular phenotype [RCV004523755] Chr7:92084862 [GRCh38]
Chr7:91714176 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8962A>C (p.Ile2988Leu) single nucleotide variant Cardiovascular phenotype [RCV004523756] Chr7:92085624 [GRCh38]
Chr7:91714938 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9025-1G>C single nucleotide variant Cardiovascular phenotype [RCV004523757] Chr7:92086227 [GRCh38]
Chr7:91715541 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9113G>C (p.Arg3038Pro) single nucleotide variant Cardiovascular phenotype [RCV004523758] Chr7:92086316 [GRCh38]
Chr7:91715630 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9246C>T (p.Leu3082=) single nucleotide variant Cardiovascular phenotype [RCV004523759] Chr7:92089417 [GRCh38]
Chr7:91718731 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.924T>C (p.Tyr308=) single nucleotide variant Cardiovascular phenotype [RCV004523760] Chr7:91995794 [GRCh38]
Chr7:91625108 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.9280A>G (p.Ile3094Val) single nucleotide variant Cardiovascular phenotype [RCV004523761] Chr7:92089451 [GRCh38]
Chr7:91718765 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9294T>G (p.His3098Gln) single nucleotide variant Cardiovascular phenotype [RCV004523762] Chr7:92089465 [GRCh38]
Chr7:91718779 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9366G>A (p.Leu3122=) single nucleotide variant Cardiovascular phenotype [RCV004523763] Chr7:92093104 [GRCh38]
Chr7:91722418 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9595A>G (p.Lys3199Glu) single nucleotide variant Cardiovascular phenotype [RCV004523764] Chr7:92095039 [GRCh38]
Chr7:91724353 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9861G>A (p.Gln3287=) single nucleotide variant Cardiovascular phenotype [RCV004523766] Chr7:92096820 [GRCh38]
Chr7:91726134 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8580C>T (p.Ala2860=) single nucleotide variant Cardiovascular phenotype [RCV004523751] Chr7:92083589 [GRCh38]
Chr7:91712903 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8700A>G (p.Ile2900Met) single nucleotide variant Cardiovascular phenotype [RCV004523752] Chr7:92084693 [GRCh38]
Chr7:91714007 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9818C>T (p.Ser3273Phe) single nucleotide variant Cardiovascular phenotype [RCV004523765] Chr7:92096777 [GRCh38]
Chr7:91726091 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10348C>A (p.Arg3450=) single nucleotide variant Cardiovascular phenotype [RCV004521689] Chr7:92097307 [GRCh38]
Chr7:91726621 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2153C>T (p.Thr718Ile) single nucleotide variant Cardiovascular phenotype [RCV004521714] Chr7:92002070 [GRCh38]
Chr7:91631384 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2221C>G (p.Leu741Val) single nucleotide variant Cardiovascular phenotype [RCV004521716] Chr7:92002138 [GRCh38]
Chr7:91631452 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.245C>G (p.Thr82Arg) single nucleotide variant Cardiovascular phenotype [RCV004521718] Chr7:91973907 [GRCh38]
Chr7:91603221 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2962G>C (p.Glu988Gln) single nucleotide variant Cardiovascular phenotype [RCV004521723] Chr7:92002879 [GRCh38]
Chr7:91632193 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3027A>G (p.Val1009=) single nucleotide variant Cardiovascular phenotype [RCV004521725] Chr7:92002944 [GRCh38]
Chr7:91632258 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3160G>A (p.Val1054Ile) single nucleotide variant Cardiovascular phenotype [RCV004521728] Chr7:92003077 [GRCh38]
Chr7:91632391 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3380A>G (p.His1127Arg) single nucleotide variant Cardiovascular phenotype [RCV004521732] Chr7:92012490 [GRCh38]
Chr7:91641804 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3606T>C (p.Phe1202=) single nucleotide variant Cardiovascular phenotype [RCV004521736] Chr7:92014322 [GRCh38]
Chr7:91643636 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4681G>T (p.Val1561Phe) single nucleotide variant Cardiovascular phenotype [RCV004521751] Chr7:92038761 [GRCh38]
Chr7:91668075 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5165A>G (p.Tyr1722Cys) single nucleotide variant Cardiovascular phenotype [RCV004521754] Chr7:92045010 [GRCh38]
Chr7:91674324 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.554A>G (p.Tyr185Cys) single nucleotide variant Cardiovascular phenotype [RCV004521759] Chr7:91993033 [GRCh38]
Chr7:91622347 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5824A>G (p.Thr1942Ala) single nucleotide variant Cardiovascular phenotype [RCV004521762] Chr7:92062333 [GRCh38]
Chr7:91691647 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5831T>C (p.Ile1944Thr) single nucleotide variant Cardiovascular phenotype [RCV004521763] Chr7:92062340 [GRCh38]
Chr7:91691654 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6073G>T (p.Ala2025Ser) single nucleotide variant Cardiovascular phenotype [RCV004521767] Chr7:92065326 [GRCh38]
Chr7:91694640 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.676A>G (p.Arg226Gly) single nucleotide variant Cardiovascular phenotype [RCV004521771] Chr7:91994720 [GRCh38]
Chr7:91624034 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6901G>A (p.Val2301Ile) single nucleotide variant Cardiovascular phenotype [RCV004523735] Chr7:92077831 [GRCh38]
Chr7:91707145 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6946-8_6946-5del microsatellite Cardiovascular phenotype [RCV004523736] Chr7:92079067..92079070 [GRCh38]
Chr7:91708381..91708384 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7067T>C (p.Ile2356Thr) single nucleotide variant Cardiovascular phenotype [RCV004523737] Chr7:92079200 [GRCh38]
Chr7:91708514 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7124A>G (p.His2375Arg) single nucleotide variant Cardiovascular phenotype [RCV004523738] Chr7:92079257 [GRCh38]
Chr7:91708571 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7161A>G (p.Gln2387=) single nucleotide variant Cardiovascular phenotype [RCV004523739] Chr7:92079294 [GRCh38]
Chr7:91708608 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7217_7218delinsTC (p.Asn2406Ile) indel Cardiovascular phenotype [RCV004523740] Chr7:92079350..92079351 [GRCh38]
Chr7:91708664..91708665 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7234A>C (p.Met2412Leu) single nucleotide variant Cardiovascular phenotype [RCV004523741] Chr7:92079367 [GRCh38]
Chr7:91708681 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7611A>G (p.Gln2537=) single nucleotide variant Cardiovascular phenotype [RCV004523742] Chr7:92079744 [GRCh38]
Chr7:91709058 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7620T>G (p.Ile2540Met) single nucleotide variant Cardiovascular phenotype [RCV004523743] Chr7:92079753 [GRCh38]
Chr7:91709067 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7626C>G (p.Asn2542Lys) single nucleotide variant Cardiovascular phenotype [RCV004523744] Chr7:92079759 [GRCh38]
Chr7:91709073 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7926G>A (p.Lys2642=) single nucleotide variant Cardiovascular phenotype [RCV004523745] Chr7:92080059 [GRCh38]
Chr7:91709373 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8052A>C (p.Glu2684Asp) single nucleotide variant Cardiovascular phenotype [RCV004523746] Chr7:92082554 [GRCh38]
Chr7:91711868 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8101A>G (p.Thr2701Ala) single nucleotide variant Cardiovascular phenotype [RCV004523747] Chr7:92082603 [GRCh38]
Chr7:91711917 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8243C>T (p.Ser2748Phe) single nucleotide variant Cardiovascular phenotype [RCV004523748] Chr7:92083252 [GRCh38]
Chr7:91712566 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8331C>T (p.Ser2777=) single nucleotide variant Cardiovascular phenotype [RCV004523749] Chr7:92083340 [GRCh38]
Chr7:91712654 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8402A>G (p.Asn2801Ser) single nucleotide variant Cardiovascular phenotype [RCV004523750] Chr7:92083411 [GRCh38]
Chr7:91712725 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8716_8717delinsTT (p.Gly2906Leu) indel Cardiovascular phenotype [RCV004523753] Chr7:92084824..92084825 [GRCh38]
Chr7:91714138..91714139 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2035G>C (p.Glu679Gln) single nucleotide variant Cardiovascular phenotype [RCV004402167] Chr7:92001952 [GRCh38]
Chr7:91631266 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4001C>G (p.Thr1334Ser) single nucleotide variant Cardiovascular phenotype [RCV004402216] Chr7:92022862 [GRCh38]
Chr7:91652176 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5151G>T (p.Leu1717Phe) single nucleotide variant Cardiovascular phenotype [RCV004402238] Chr7:92042760 [GRCh38]
Chr7:91672074 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11297G>C (p.Arg3766Pro) single nucleotide variant Cardiovascular phenotype [RCV004402121] Chr7:92102793 [GRCh38]
Chr7:91732107 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.314G>A (p.Ser105Asn) single nucleotide variant Cardiovascular phenotype [RCV004402194] Chr7:91980296 [GRCh38]
Chr7:91609610 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4241T>C (p.Ile1414Thr) single nucleotide variant Cardiovascular phenotype [RCV004402226] Chr7:92029987 [GRCh38]
Chr7:91659301 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4302A>C (p.Lys1434Asn) single nucleotide variant Cardiovascular phenotype [RCV004402229] Chr7:92031568 [GRCh38]
Chr7:91660882 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7784A>T (p.Asp2595Val) single nucleotide variant Cardiovascular phenotype [RCV004402312] Chr7:92079917 [GRCh38]
Chr7:91709231 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8405C>T (p.Ala2802Val) single nucleotide variant Cardiovascular phenotype [RCV004627123] Chr7:92083414 [GRCh38]
Chr7:91712728 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2228A>G (p.Gln743Arg) single nucleotide variant Cardiovascular phenotype [RCV004632225] Chr7:92002145 [GRCh38]
Chr7:91631459 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4056A>G (p.Gln1352=) single nucleotide variant Cardiovascular phenotype [RCV004632253] Chr7:92022917 [GRCh38]
Chr7:91652231 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.844C>T (p.His282Tyr) single nucleotide variant Cardiovascular phenotype [RCV004632328] Chr7:91995714 [GRCh38]
Chr7:91625028 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11142T>C (p.Ala3714=) single nucleotide variant Cardiovascular phenotype [RCV004632338] Chr7:92102638 [GRCh38]
Chr7:91731952 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2491G>A (p.Asp831Asn) single nucleotide variant Cardiovascular phenotype [RCV004632369] Chr7:92002408 [GRCh38]
Chr7:91631722 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9139A>G (p.Thr3047Ala) single nucleotide variant Cardiovascular phenotype [RCV004632494] Chr7:92086342 [GRCh38]
Chr7:91715656 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7065G>A (p.Val2355=) single nucleotide variant Cardiovascular phenotype [RCV004629639] Chr7:92079198 [GRCh38]
Chr7:91708512 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3552A>T (p.Leu1184Phe) single nucleotide variant Cardiovascular phenotype [RCV004629643] Chr7:92014268 [GRCh38]
Chr7:91643582 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6006G>T (p.Met2002Ile) single nucleotide variant Cardiovascular phenotype [RCV004629756] Chr7:92065259 [GRCh38]
Chr7:91694573 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6692T>C (p.Met2231Thr) single nucleotide variant Cardiovascular phenotype [RCV004629863] Chr7:92076934 [GRCh38]
Chr7:91706248 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2972C>T (p.Ser991Leu) single nucleotide variant Cardiovascular phenotype [RCV004629873] Chr7:92002889 [GRCh38]
Chr7:91632203 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8742T>C (p.Tyr2914=) single nucleotide variant Cardiovascular phenotype [RCV004629892] Chr7:92084850 [GRCh38]
Chr7:91714164 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.270A>G (p.Gly90=) single nucleotide variant Cardiovascular phenotype [RCV004629899] Chr7:91973932 [GRCh38]
Chr7:91603246 [GRCh37]
Chr7:7q21.2		 likely benign
NC_000007.13:g.(?_91603005)_(91646436_?)dup duplication Long QT syndrome [RCV004583466] Chr7:91603005..91646436 [GRCh37]
Chr7:7q21.2		 uncertain significance
NC_000007.13:g.(?_91502908)_(91871449_?)del deletion Cerebral cavernous malformation [RCV004583513] Chr7:91502908..91871449 [GRCh37]
Chr7:7q21.2		 pathogenic
NM_005751.5(AKAP9):c.3562A>G (p.Ile1188Val) single nucleotide variant Cardiovascular phenotype [RCV004629993] Chr7:92014278 [GRCh38]
Chr7:91643592 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.782C>A (p.Ala261Glu) single nucleotide variant Cardiovascular phenotype [RCV004629968] Chr7:91995652 [GRCh38]
Chr7:91624966 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4917+5G>A single nucleotide variant Cardiovascular phenotype [RCV004630032] Chr7:92040903 [GRCh38]
Chr7:91670217 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3677A>G (p.Asp1226Gly) single nucleotide variant Cardiovascular phenotype [RCV004632234] Chr7:92016193 [GRCh38]
Chr7:91645507 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5363C>T (p.Thr1788Ile) single nucleotide variant Cardiovascular phenotype [RCV004632307] Chr7:92045208 [GRCh38]
Chr7:91674522 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3862A>T (p.Met1288Leu) single nucleotide variant Cardiovascular phenotype [RCV004632379] Chr7:92022262 [GRCh38]
Chr7:91651576 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7310G>A (p.Arg2437His) single nucleotide variant Cardiovascular phenotype [RCV004632412] Chr7:92079443 [GRCh38]
Chr7:91708757 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5078G>C (p.Gly1693Ala) single nucleotide variant Cardiovascular phenotype [RCV004632503] Chr7:92042687 [GRCh38]
Chr7:91672001 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4438G>A (p.Val1480Met) single nucleotide variant Cardiovascular phenotype [RCV004629765] Chr7:92038518 [GRCh38]
Chr7:91667832 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.3815T>C (p.Val1272Ala) single nucleotide variant Cardiovascular phenotype [RCV004629808] Chr7:92017080 [GRCh38]
Chr7:91646394 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.8123A>G (p.Tyr2708Cys) single nucleotide variant Cardiovascular phenotype [RCV004629957] Chr7:92082625 [GRCh38]
Chr7:91711939 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2553A>G (p.Ser851=) single nucleotide variant Cardiovascular phenotype [RCV004630003] Chr7:92002470 [GRCh38]
Chr7:91631784 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5675C>T (p.Ser1892Phe) single nucleotide variant Cardiovascular phenotype [RCV004630012] Chr7:92061333 [GRCh38]
Chr7:91690647 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.7040A>G (p.Glu2347Gly) single nucleotide variant Cardiovascular phenotype [RCV004630021] Chr7:92079173 [GRCh38]
Chr7:91708487 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.533T>A (p.Leu178Gln) single nucleotide variant Cardiovascular phenotype [RCV004630099] Chr7:91993012 [GRCh38]
Chr7:91622326 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.217G>A (p.Val73Ile) single nucleotide variant Cardiovascular phenotype [RCV004630106] Chr7:91973879 [GRCh38]
Chr7:91603193 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3644C>G (p.Thr1215Ser) single nucleotide variant Cardiovascular phenotype [RCV004632513] Chr7:92016160 [GRCh38]
Chr7:91645474 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4978C>A (p.Leu1660Met) single nucleotide variant Cardiovascular phenotype [RCV004629684] Chr7:92042106 [GRCh38]
Chr7:91671420 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4024G>C (p.Glu1342Gln) single nucleotide variant Cardiovascular phenotype [RCV004629748] Chr7:92022885 [GRCh38]
Chr7:91652199 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1867G>A (p.Glu623Lys) single nucleotide variant Cardiovascular phenotype [RCV004629771] Chr7:92001784 [GRCh38]
Chr7:91631098 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10215G>A (p.Met3405Ile) single nucleotide variant Cardiovascular phenotype [RCV004629790] Chr7:92097174 [GRCh38]
Chr7:91726488 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.-18G>T single nucleotide variant not specified [RCV004690711] Chr7:91941082 [GRCh38]
Chr7:91570396 [GRCh37]
Chr7:7q21.2		 benign
NM_005751.5(AKAP9):c.1893T>C (p.Phe631=) single nucleotide variant Cardiovascular phenotype [RCV004629818] Chr7:92001810 [GRCh38]
Chr7:91631124 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.4613T>C (p.Ile1538Thr) single nucleotide variant Cardiovascular phenotype [RCV004629826] Chr7:92038693 [GRCh38]
Chr7:91668007 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.1749G>A (p.Lys583=) single nucleotide variant Cardiovascular phenotype [RCV004629837] Chr7:92001666 [GRCh38]
Chr7:91630980 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.379A>G (p.Thr127Ala) single nucleotide variant Cardiovascular phenotype [RCV004629844] Chr7:91992185 [GRCh38]
Chr7:91621499 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3318+3A>G single nucleotide variant Cardiovascular phenotype [RCV004629852] Chr7:92003238 [GRCh38]
Chr7:91632552 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4380A>G (p.Glu1460=) single nucleotide variant Cardiovascular phenotype [RCV004629888] Chr7:92038460 [GRCh38]
Chr7:91667774 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5065A>G (p.Asn1689Asp) single nucleotide variant Cardiovascular phenotype [RCV004629926] Chr7:92042674 [GRCh38]
Chr7:91671988 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.880T>C (p.Phe294Leu) single nucleotide variant Cardiovascular phenotype [RCV004629976] Chr7:91995750 [GRCh38]
Chr7:91625064 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10661T>G (p.Ile3554Ser) single nucleotide variant Cardiovascular phenotype [RCV004629947] Chr7:92098162 [GRCh38]
Chr7:91727476 [GRCh37]
Chr7:7q21.2		 uncertain significance
NC_000007.13:g.(?_91674302)_(91739473_?)del deletion Long QT syndrome [RCV004583465] Chr7:91674302..91739473 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.2639A>G (p.Asp880Gly) single nucleotide variant Cardiovascular phenotype [RCV004630042] Chr7:92002556 [GRCh38]
Chr7:91631870 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4696C>G (p.His1566Asp) single nucleotide variant Cardiovascular phenotype [RCV004630056] Chr7:92040677 [GRCh38]
Chr7:91669991 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9594T>G (p.Asp3198Glu) single nucleotide variant Cardiovascular phenotype [RCV004630067] Chr7:92095038 [GRCh38]
Chr7:91724352 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6250C>T (p.Gln2084Ter) single nucleotide variant Cardiovascular phenotype [RCV004630075] Chr7:92066466 [GRCh38]
Chr7:91695780 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.6410G>T (p.Arg2137Met) single nucleotide variant Cardiovascular phenotype [RCV004630080] Chr7:92070109 [GRCh38]
Chr7:91699423 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3813G>A (p.Leu1271=) single nucleotide variant Cardiovascular phenotype [RCV004623935] Chr7:92017078 [GRCh38]
Chr7:91646392 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.5806A>T (p.Arg1936Trp) single nucleotide variant Cardiovascular phenotype [RCV004623937] Chr7:92062315 [GRCh38]
Chr7:91691629 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3659G>T (p.Cys1220Phe) single nucleotide variant Cardiovascular phenotype [RCV004623971] Chr7:92016175 [GRCh38]
Chr7:91645489 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3792A>C (p.Thr1264=) single nucleotide variant Cardiovascular phenotype [RCV004626959] Chr7:92017057 [GRCh38]
Chr7:91646371 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7962G>A (p.Glu2654=) single nucleotide variant Cardiovascular phenotype [RCV004632209] Chr7:92080095 [GRCh38]
Chr7:91709409 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.2916G>C (p.Glu972Asp) single nucleotide variant Cardiovascular phenotype [RCV004632217] Chr7:92002833 [GRCh38]
Chr7:91632147 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.11526C>A (p.Ser3842=) single nucleotide variant Cardiovascular phenotype [RCV004632261] Chr7:92107402 [GRCh38]
Chr7:91736716 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7399G>A (p.Val2467Ile) single nucleotide variant Cardiovascular phenotype [RCV004632267] Chr7:92079532 [GRCh38]
Chr7:91708846 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.1152G>A (p.Lys384=) single nucleotide variant Cardiovascular phenotype [RCV004632282] Chr7:92001069 [GRCh38]
Chr7:91630383 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.7241A>C (p.Asn2414Thr) single nucleotide variant Cardiovascular phenotype [RCV004632318] Chr7:92079374 [GRCh38]
Chr7:91708688 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.988A>G (p.Ile330Val) single nucleotide variant Cardiovascular phenotype [RCV004632358] Chr7:92000905 [GRCh38]
Chr7:91630219 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.5489T>G (p.Phe1830Cys) single nucleotide variant Cardiovascular phenotype [RCV004632459] Chr7:92052846 [GRCh38]
Chr7:91682160 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.61C>G (p.Arg21Gly) single nucleotide variant Cardiovascular phenotype [RCV004632485] Chr7:91973723 [GRCh38]
Chr7:91603037 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.3176T>G (p.Met1059Arg) single nucleotide variant not provided [RCV004775259] Chr7:92003093 [GRCh38]
Chr7:91632407 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.4693-10A>C single nucleotide variant AKAP9-related disorder [RCV004747703] Chr7:92040664 [GRCh38]
Chr7:91669978 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.6508-1G>A single nucleotide variant AKAP9-related disorder [RCV004747452]|not specified [RCV004703029] Chr7:92070904 [GRCh38]
Chr7:91700218 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.9035G>C (p.Ser3012Thr) single nucleotide variant Cardiovascular phenotype [RCV004632193] Chr7:92086238 [GRCh38]
Chr7:91715552 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.10978T>C (p.Leu3660=) single nucleotide variant Cardiovascular phenotype [RCV003384353]|Long QT syndrome [RCV003107201] Chr7:92100937 [GRCh38]
Chr7:91730251 [GRCh37]
Chr7:7q21.2		 likely benign
NM_005751.5(AKAP9):c.10192A>C (p.Asn3398His) single nucleotide variant Cardiovascular phenotype [RCV004353370] Chr7:92097151 [GRCh38]
Chr7:91726465 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8477A>G (p.Glu2826Gly) single nucleotide variant Cardiovascular phenotype [RCV004402346] Chr7:92083486 [GRCh38]
Chr7:91712800 [GRCh37]
Chr7:7q21.2		 uncertain significance
NM_005751.5(AKAP9):c.8501T>C (p.Leu2834Pro) single nucleotide variant Cardiovascular phenotype [RCV004402351] Chr7:92083510 [GRCh38]
Chr7:91712824 [GRCh37]
Chr7:7q21.2		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR21hsa-miR-21-5pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)19242418

Predicted Target Of
Summary Value
Count of predictions:1843
Count of miRNA genes:865
Interacting mature miRNAs:984
Transcripts:ENST00000356239, ENST00000358100, ENST00000359028, ENST00000394534, ENST00000394564, ENST00000435423, ENST00000438114, ENST00000463118, ENST00000484815, ENST00000486313, ENST00000487258, ENST00000487692, ENST00000491695, ENST00000493453, ENST00000493976
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406912914GWAS561890_Hbody height QTL GWAS561890 (human)8e-09body height (VT:0001253)body height (CMO:0000106)79199792091997921Human
406890243GWAS539219_Hbreast carcinoma QTL GWAS539219 (human)9e-11breast carcinoma79200130692001307Human
407378139GWAS1027115_Hhippocampal volume QTL GWAS1027115 (human)0.0000002hippocampal volume79210127792101278Human
407151009GWAS799985_Hbreast carcinoma QTL GWAS799985 (human)3e-12breast carcinoma79200130692001307Human
406889031GWAS538007_Hcircadian rhythm QTL GWAS538007 (human)0.000002circadian rhythm79208373392083734Human
407108651GWAS757627_Herythrocyte count QTL GWAS757627 (human)3e-12erythrocyte countred blood cell count (CMO:0000025)79195381891953819Human
406932169GWAS581145_Hbody height QTL GWAS581145 (human)0.0000005body height (VT:0001253)body height (CMO:0000106)79199792091997921Human
406901385GWAS550361_Heducational attainment QTL GWAS550361 (human)1e-16educational attainment79194751091947511Human
407087466GWAS736442_Hbreast carcinoma QTL GWAS736442 (human)0.000001breast carcinoma79200130692001307Human
407089374GWAS738350_Hbreast carcinoma QTL GWAS738350 (human)0.0000005breast carcinoma79200130692001307Human
407228600GWAS877576_Hbody height QTL GWAS877576 (human)4e-72body height (VT:0001253)body height (CMO:0000106)79200299292002993Human
407200298GWAS849274_Happendicular lean mass QTL GWAS849274 (human)1e-13appendicular lean mass79210173292101733Human

Markers in Region
D7S1789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,731,730 - 91,731,865UniSTSGRCh37
Build 36791,569,666 - 91,569,801RGDNCBI36
Celera786,436,278 - 86,436,413RGD
Cytogenetic Map7q21-q22UniSTS
HuRef786,339,164 - 86,339,296UniSTS
CRA_TCAGchr7v2791,060,968 - 91,061,103UniSTS
Marshfield Genetic Map7103.63RGD
Marshfield Genetic Map7103.63UniSTS
deCODE Assembly Map7102.82UniSTS
SHGC-31096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,593,754 - 91,593,893UniSTSGRCh37
Build 36791,431,690 - 91,431,829RGDNCBI36
Celera786,298,338 - 86,298,477RGD
Cytogenetic Map7q21-q22UniSTS
HuRef786,201,323 - 86,201,462UniSTS
CRA_TCAGchr7v2790,923,885 - 90,924,024UniSTS
GeneMap99-GB4 RH Map7486.32UniSTS
Whitehead-RH Map7454.5UniSTS
GeneMap99-G3 RH Map74404.0UniSTS
D7S2313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,739,547 - 91,739,796UniSTSGRCh37
Build 36791,577,483 - 91,577,732RGDNCBI36
Celera786,444,095 - 86,444,344RGD
Cytogenetic Map7q21-q22UniSTS
HuRef786,346,978 - 86,347,227UniSTS
CRA_TCAGchr7v2791,068,785 - 91,069,034UniSTS
GeneMap99-GB4 RH Map7483.86UniSTS
Whitehead-RH Map7456.1UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map71010.2UniSTS
SHGC-36444  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,641,542 - 91,641,616UniSTSGRCh37
Build 36791,479,478 - 91,479,552RGDNCBI36
Celera786,346,126 - 86,346,200RGD
Cytogenetic Map7q21-q22UniSTS
HuRef786,249,102 - 86,249,176UniSTS
CRA_TCAGchr7v2790,970,814 - 90,970,888UniSTS
RH80300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,641,541 - 91,641,619UniSTSGRCh37
Build 36791,479,477 - 91,479,555RGDNCBI36
Celera786,346,125 - 86,346,203RGD
Cytogenetic Map7q21-q22UniSTS
HuRef786,249,101 - 86,249,179UniSTS
CRA_TCAGchr7v2790,970,813 - 90,970,891UniSTS
GeneMap99-GB4 RH Map7472.3UniSTS
G42119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,575,276 - 91,575,549UniSTSGRCh37
Build 36791,413,212 - 91,413,485RGDNCBI36
Celera786,279,857 - 86,280,130RGD
Cytogenetic Map7q21-q22UniSTS
HuRef786,182,827 - 86,183,100UniSTS
CRA_TCAGchr7v2790,905,403 - 90,905,676UniSTS
G42120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,576,548 - 91,577,308UniSTSGRCh37
Build 36791,414,484 - 91,415,244RGDNCBI36
Celera786,281,129 - 86,281,889RGD
Cytogenetic Map7q21-q22UniSTS
HuRef786,184,100 - 86,184,860UniSTS
CRA_TCAGchr7v2790,906,675 - 90,907,435UniSTS
G42121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,579,751 - 91,580,235UniSTSGRCh37
Build 36791,417,687 - 91,418,171RGDNCBI36
Celera786,284,331 - 86,284,815RGD
Cytogenetic Map7q21-q22UniSTS
HuRef786,187,303 - 86,187,787UniSTS
CRA_TCAGchr7v2790,909,878 - 90,910,362UniSTS
G42122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,580,455 - 91,580,615UniSTSGRCh37
Build 36791,418,391 - 91,418,551RGDNCBI36
Celera786,285,035 - 86,285,195RGD
Cytogenetic Map7q21-q22UniSTS
HuRef786,188,007 - 86,188,167UniSTS
CRA_TCAGchr7v2790,910,582 - 90,910,742UniSTS
G42123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,581,035 - 91,581,645UniSTSGRCh37
Build 36791,418,971 - 91,419,581RGDNCBI36
Celera786,285,615 - 86,286,225RGD
Cytogenetic Map7q21-q22UniSTS
HuRef786,188,587 - 86,189,197UniSTS
CRA_TCAGchr7v2790,911,162 - 90,911,772UniSTS
G42124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,583,282 - 91,583,895UniSTSGRCh37
Build 36791,421,218 - 91,421,831RGDNCBI36
Celera786,287,862 - 86,288,475RGD
Cytogenetic Map7q21-q22UniSTS
HuRef786,190,834 - 86,191,447UniSTS
CRA_TCAGchr7v2790,913,409 - 90,914,022UniSTS
G44753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,719,502 - 91,719,742UniSTSGRCh37
Build 36791,557,438 - 91,557,678RGDNCBI36
Celera786,424,050 - 86,424,290RGD
Cytogenetic Map7q21-q22UniSTS
HuRef786,327,102 - 86,327,342UniSTS
CRA_TCAGchr7v2791,048,740 - 91,048,980UniSTS
D7S2654  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,682,596 - 91,682,785UniSTSGRCh37
Build 36791,520,532 - 91,520,721RGDNCBI36
Celera786,387,144 - 86,387,333RGD
Cytogenetic Map7q21-q22UniSTS
HuRef786,289,944 - 86,290,133UniSTS
CRA_TCAGchr7v2791,011,834 - 91,012,023UniSTS
SHGC-105142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,739,243 - 91,739,549UniSTSGRCh37
Build 36791,577,179 - 91,577,485RGDNCBI36
Celera786,443,791 - 86,444,097RGD
Cytogenetic Map7q21-q22UniSTS
HuRef786,346,674 - 86,346,980UniSTS
CRA_TCAGchr7v2791,068,481 - 91,068,787UniSTS
G31814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,583,894 - 91,584,000UniSTSGRCh37
Build 36791,421,830 - 91,421,936RGDNCBI36
Celera786,288,474 - 86,288,580RGD
Cytogenetic Map7q21-q22UniSTS
HuRef786,191,446 - 86,191,552UniSTS
CRA_TCAGchr7v2790,914,021 - 90,914,127UniSTS
RH68133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,632,642 - 91,632,778UniSTSGRCh37
Build 36791,470,578 - 91,470,714RGDNCBI36
Celera786,337,227 - 86,337,363RGD
Cytogenetic Map7q21-q22UniSTS
HuRef786,240,203 - 86,240,339UniSTS
CRA_TCAGchr7v2790,961,915 - 90,962,051UniSTS
GeneMap99-GB4 RH Map7485.47UniSTS
NCBI RH Map71010.7UniSTS
G31811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,738,086 - 91,738,220UniSTSGRCh37
Build 36791,576,022 - 91,576,156RGDNCBI36
Celera786,442,634 - 86,442,768RGD
Cytogenetic Map7q21-q22UniSTS
HuRef786,345,517 - 86,345,651UniSTS
CRA_TCAGchr7v2791,067,324 - 91,067,458UniSTS
D7S2653  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,573,202 - 91,573,336UniSTSGRCh37
Build 36791,411,138 - 91,411,272RGDNCBI36
Celera786,277,783 - 86,277,917RGD
Cytogenetic Map7q21-q22UniSTS
HuRef786,180,753 - 86,180,887UniSTS
CRA_TCAGchr7v2790,903,329 - 90,903,463UniSTS
D7S2153E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,729,149 - 91,730,219UniSTSGRCh37
Celera786,433,697 - 86,434,767UniSTS
Cytogenetic Map7q21-q22UniSTS
HuRef786,336,584 - 86,337,654UniSTS
CRA_TCAGchr7v2791,058,387 - 91,059,457UniSTS
D11S3316  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map7p15-p14UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q12-q13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map14q31UniSTS
MARC_21662-21663:1033410511:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37791,735,014 - 91,736,647UniSTSGRCh37
Celera786,439,562 - 86,441,195UniSTS
HuRef786,342,446 - 86,344,079UniSTS
CRA_TCAGchr7v2791,064,252 - 91,065,885UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_147185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB018346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB019691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC000066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC000120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC003086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF026245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF083037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF091711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF247727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ131693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY528715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR997756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000356239   ⟹   ENSP00000348573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,862 - 92,110,673 (+)Ensembl
Ensembl Acc Id: ENST00000358100   ⟹   ENSP00000350813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,941,100 - 92,090,621 (+)Ensembl
Ensembl Acc Id: ENST00000359028   ⟹   ENSP00000351922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,941,100 - 92,110,582 (+)Ensembl
Ensembl Acc Id: ENST00000394534   ⟹   ENSP00000378042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,070,905 - 92,110,592 (+)Ensembl
Ensembl Acc Id: ENST00000394564   ⟹   ENSP00000378065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,926 - 91,996,052 (+)Ensembl
Ensembl Acc Id: ENST00000435423   ⟹   ENSP00000406937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,083,170 - 92,091,458 (+)Ensembl
Ensembl Acc Id: ENST00000438114   ⟹   ENSP00000391704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,973,756 - 91,995,713 (+)Ensembl
Ensembl Acc Id: ENST00000463118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,098,154 - 92,107,929 (+)Ensembl
Ensembl Acc Id: ENST00000484815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,040,704 - 92,043,143 (+)Ensembl
Ensembl Acc Id: ENST00000486313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,097,700 - 92,110,668 (+)Ensembl
Ensembl Acc Id: ENST00000487258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,091,989 - 92,110,668 (+)Ensembl
Ensembl Acc Id: ENST00000487692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,091,661 - 92,110,573 (+)Ensembl
Ensembl Acc Id: ENST00000491695   ⟹   ENSP00000494626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,057,626 - 92,110,660 (+)Ensembl
Ensembl Acc Id: ENST00000493453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,916 - 92,041,781 (+)Ensembl
Ensembl Acc Id: ENST00000493976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,105,677 - 92,107,929 (+)Ensembl
Ensembl Acc Id: ENST00000619023   ⟹   ENSP00000480807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,916 - 92,041,781 (+)Ensembl
Ensembl Acc Id: ENST00000674305   ⟹   ENSP00000501501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,002,243 - 92,079,997 (+)Ensembl
Ensembl Acc Id: ENST00000674381   ⟹   ENSP00000501536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,941,079 - 92,083,268 (+)Ensembl
Ensembl Acc Id: ENST00000679448   ⟹   ENSP00000505889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,878 - 92,110,659 (+)Ensembl
Ensembl Acc Id: ENST00000679457   ⟹   ENSP00000505450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,878 - 92,110,511 (+)Ensembl
Ensembl Acc Id: ENST00000679474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,878 - 92,110,571 (+)Ensembl
Ensembl Acc Id: ENST00000679521   ⟹   ENSP00000505456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,862 - 92,110,673 (+)Ensembl
Ensembl Acc Id: ENST00000679554   ⟹   ENSP00000506415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,860 - 92,083,268 (+)Ensembl
Ensembl Acc Id: ENST00000679722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,878 - 92,085,872 (+)Ensembl
Ensembl Acc Id: ENST00000679821   ⟹   ENSP00000506040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,860 - 92,110,660 (+)Ensembl
Ensembl Acc Id: ENST00000680047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,878 - 92,110,631 (+)Ensembl
Ensembl Acc Id: ENST00000680072   ⟹   ENSP00000506581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,840 - 92,110,673 (+)Ensembl
Ensembl Acc Id: ENST00000680074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,878 - 92,070,813 (+)Ensembl
Ensembl Acc Id: ENST00000680181   ⟹   ENSP00000505548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,862 - 92,110,660 (+)Ensembl
Ensembl Acc Id: ENST00000680365   ⟹   ENSP00000506019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,070,905 - 92,110,659 (+)Ensembl
Ensembl Acc Id: ENST00000680513   ⟹   ENSP00000505284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,840 - 92,110,673 (+)Ensembl
Ensembl Acc Id: ENST00000680534   ⟹   ENSP00000506674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,840 - 92,110,673 (+)Ensembl
Ensembl Acc Id: ENST00000680766   ⟹   ENSP00000505204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,878 - 92,110,660 (+)Ensembl
Ensembl Acc Id: ENST00000680952   ⟹   ENSP00000506407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,878 - 92,110,571 (+)Ensembl
Ensembl Acc Id: ENST00000681216   ⟹   ENSP00000505551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl792,070,905 - 92,110,659 (+)Ensembl
Ensembl Acc Id: ENST00000681412   ⟹   ENSP00000506486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,878 - 92,110,640 (+)Ensembl
Ensembl Acc Id: ENST00000681722   ⟹   ENSP00000506566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl791,940,862 - 92,109,061 (+)Ensembl
RefSeq Acc Id: NM_001379277   ⟹   NP_001366206
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,057,578 - 92,110,673 (+)NCBI
T2T-CHM13v2.0793,298,862 - 93,351,954 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005751   ⟹   NP_005742
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38791,940,862 - 92,110,673 (+)NCBI
GRCh37791,570,181 - 91,739,987 (+)NCBI
Build 36791,408,128 - 91,577,925 (+)NCBI Archive
HuRef786,177,732 - 86,347,418 (+)ENTREZGENE
CHM1_1791,500,226 - 91,670,057 (+)NCBI
T2T-CHM13v2.0793,182,145 - 93,351,954 (+)NCBI
CRA_TCAGchr7v2790,900,316 - 91,069,225 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_147185   ⟹   NP_671714
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38791,940,862 - 92,110,673 (+)NCBI
GRCh37791,570,181 - 91,739,987 (+)NCBI
Build 36791,408,128 - 91,577,925 (+)NCBI Archive
HuRef786,177,732 - 86,347,418 (+)ENTREZGENE
CHM1_1791,500,226 - 91,670,057 (+)NCBI
T2T-CHM13v2.0793,182,145 - 93,351,954 (+)NCBI
CRA_TCAGchr7v2790,900,316 - 91,069,225 (+)ENTREZGENE
Sequence:
Protein Sequences
Protein RefSeqs NP_001366206 (Get FASTA)   NCBI Sequence Viewer  
  NP_005742 (Get FASTA)   NCBI Sequence Viewer  
  NP_671714 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB86384 (Get FASTA)   NCBI Sequence Viewer  
  AAB96867 (Get FASTA)   NCBI Sequence Viewer  
  AAC60380 (Get FASTA)   NCBI Sequence Viewer  
  AAD22767 (Get FASTA)   NCBI Sequence Viewer  
  AAD39719 (Get FASTA)   NCBI Sequence Viewer  
  AAH15533 (Get FASTA)   NCBI Sequence Viewer  
  AAH40932 (Get FASTA)   NCBI Sequence Viewer  
  AAK51115 (Get FASTA)   NCBI Sequence Viewer  
  AAS07419 (Get FASTA)   NCBI Sequence Viewer  
  AAT44400 (Get FASTA)   NCBI Sequence Viewer  
  BAA34523 (Get FASTA)   NCBI Sequence Viewer  
  BAA78718 (Get FASTA)   NCBI Sequence Viewer  
  BAG52021 (Get FASTA)   NCBI Sequence Viewer  
  CAA09361 (Get FASTA)   NCBI Sequence Viewer  
  CAB40713 (Get FASTA)   NCBI Sequence Viewer  
  CAB55912 (Get FASTA)   NCBI Sequence Viewer  
  EAL24155 (Get FASTA)   NCBI Sequence Viewer  
  EAL24156 (Get FASTA)   NCBI Sequence Viewer  
  EAL24157 (Get FASTA)   NCBI Sequence Viewer  
  EAL24158 (Get FASTA)   NCBI Sequence Viewer  
  EAW76860 (Get FASTA)   NCBI Sequence Viewer  
  EAW76861 (Get FASTA)   NCBI Sequence Viewer  
  EAW76862 (Get FASTA)   NCBI Sequence Viewer  
  EAW76863 (Get FASTA)   NCBI Sequence Viewer  
  EAW76864 (Get FASTA)   NCBI Sequence Viewer  
  EAW76865 (Get FASTA)   NCBI Sequence Viewer  
  EAW76866 (Get FASTA)   NCBI Sequence Viewer  
  EAW76867 (Get FASTA)   NCBI Sequence Viewer  
  EAW76868 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000348573
  ENSP00000348573.3
  ENSP00000351922.4
  ENSP00000378042.3
  ENSP00000494626
  ENSP00000494626.2
  ENSP00000501536.2
  ENSP00000505204
  ENSP00000505204.1
  ENSP00000505284.1
  ENSP00000505389.1
  ENSP00000505450.1
  ENSP00000505456.1
  ENSP00000505548.1
  ENSP00000505551.1
  ENSP00000505889.1
  ENSP00000506019.1
  ENSP00000506040.1
  ENSP00000506407.1
  ENSP00000506415.1
  ENSP00000506486.1
  ENSP00000506566.1
  ENSP00000506581.1
  ENSP00000506674.1
GenBank Protein Q99996 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_005742   ⟸   NM_005751
- Peptide Label: isoform 2
- UniProtKB: Q9Y6B8 (UniProtKB/Swiss-Prot),   Q9UQQ4 (UniProtKB/Swiss-Prot),   Q9UQH3 (UniProtKB/Swiss-Prot),   Q75N20 (UniProtKB/Swiss-Prot),   O94895 (UniProtKB/Swiss-Prot),   O43355 (UniProtKB/Swiss-Prot),   O14869 (UniProtKB/Swiss-Prot),   A4D1F4 (UniProtKB/Swiss-Prot),   A4D1F2 (UniProtKB/Swiss-Prot),   A4D1F0 (UniProtKB/Swiss-Prot),   Q9Y6Y2 (UniProtKB/Swiss-Prot),   Q99996 (UniProtKB/Swiss-Prot),   A0A7P0T928 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_671714   ⟸   NM_147185
- Peptide Label: isoform 3
- UniProtKB: A0A7P0T928 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001366206   ⟸   NM_001379277
- Peptide Label: isoform 4
- UniProtKB: A0A2R8Y590 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000351922   ⟸   ENST00000359028
Ensembl Acc Id: ENSP00000391704   ⟸   ENST00000438114
Ensembl Acc Id: ENSP00000501501   ⟸   ENST00000674305
Ensembl Acc Id: ENSP00000501536   ⟸   ENST00000674381
Ensembl Acc Id: ENSP00000494626   ⟸   ENST00000491695
Ensembl Acc Id: ENSP00000480807   ⟸   ENST00000619023
Ensembl Acc Id: ENSP00000378065   ⟸   ENST00000394564
Ensembl Acc Id: ENSP00000378042   ⟸   ENST00000394534
Ensembl Acc Id: ENSP00000348573   ⟸   ENST00000356239
Ensembl Acc Id: ENSP00000406937   ⟸   ENST00000435423
Ensembl Acc Id: ENSP00000350813   ⟸   ENST00000358100
Ensembl Acc Id: ENSP00000506407   ⟸   ENST00000680952
Ensembl Acc Id: ENSP00000505889   ⟸   ENST00000679448
Ensembl Acc Id: ENSP00000505551   ⟸   ENST00000681216
Ensembl Acc Id: ENSP00000505204   ⟸   ENST00000680766
Ensembl Acc Id: ENSP00000506581   ⟸   ENST00000680072
Ensembl Acc Id: ENSP00000505284   ⟸   ENST00000680513
Ensembl Acc Id: ENSP00000506019   ⟸   ENST00000680365
Ensembl Acc Id: ENSP00000506486   ⟸   ENST00000681412
Ensembl Acc Id: ENSP00000505548   ⟸   ENST00000680181
Ensembl Acc Id: ENSP00000505456   ⟸   ENST00000679521
Ensembl Acc Id: ENSP00000505450   ⟸   ENST00000679457
Ensembl Acc Id: ENSP00000506674   ⟸   ENST00000680534
Ensembl Acc Id: ENSP00000506415   ⟸   ENST00000679554
Ensembl Acc Id: ENSP00000506040   ⟸   ENST00000679821
Ensembl Acc Id: ENSP00000506566   ⟸   ENST00000681722
Protein Domains
ELK   Pericentrin/AKAP-450 centrosomal targeting

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q99996-F1-model_v2 AlphaFold Q99996 1-1400 view protein structure
AF-Q99996-F2-model_v2 AlphaFold Q99996 201-1600 view protein structure
AF-Q99996-F3-model_v2 AlphaFold Q99996 401-1800 view protein structure
AF-Q99996-F4-model_v2 AlphaFold Q99996 601-2000 view protein structure
AF-Q99996-F5-model_v2 AlphaFold Q99996 801-2200 view protein structure
AF-Q99996-F6-model_v2 AlphaFold Q99996 1001-2400 view protein structure
AF-Q99996-F7-model_v2 AlphaFold Q99996 1201-2600 view protein structure
AF-Q99996-F8-model_v2 AlphaFold Q99996 1401-2800 view protein structure
AF-Q99996-F9-model_v2 AlphaFold Q99996 1601-3000 view protein structure
AF-Q99996-F10-model_v2 AlphaFold Q99996 1801-3200 view protein structure
AF-Q99996-F11-model_v2 AlphaFold Q99996 2001-3400 view protein structure
AF-Q99996-F12-model_v2 AlphaFold Q99996 2201-3600 view protein structure
AF-Q99996-F13-model_v2 AlphaFold Q99996 2401-3800 view protein structure
AF-Q99996-F14-model_v2 AlphaFold Q99996 2601-3907 view protein structure

Promoters
RGD ID:6805226
Promoter ID:HG_KWN:58531
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000394565,   OTTHUMT00000253808,   UC003ULD.2,   UC003ULE.1,   UC003ULF.1,   UC003ULH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36791,407,924 - 91,408,424 (+)MPROMDB
RGD ID:7211035
Promoter ID:EPDNEW_H11263
Type:multiple initiation site
Name:AKAP9_1
Description:A-kinase anchoring protein 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11264  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38791,940,868 - 91,940,928EPDNEW
RGD ID:7211037
Promoter ID:EPDNEW_H11264
Type:initiation region
Name:AKAP9_2
Description:A-kinase anchoring protein 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11263  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38792,057,614 - 92,057,674EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:379 AgrOrtholog
COSMIC AKAP9 COSMIC
Ensembl Genes ENSG00000127914 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000356239 ENTREZGENE
  ENST00000356239.8 UniProtKB/Swiss-Prot
  ENST00000359028.7 UniProtKB/TrEMBL
  ENST00000394534.7 UniProtKB/TrEMBL
  ENST00000486313.2 UniProtKB/TrEMBL
  ENST00000491695 ENTREZGENE
  ENST00000491695.2 UniProtKB/TrEMBL
  ENST00000674381.2 UniProtKB/TrEMBL
  ENST00000679448.1 UniProtKB/TrEMBL
  ENST00000679457.1 UniProtKB/TrEMBL
  ENST00000679521.1 UniProtKB/TrEMBL
  ENST00000679554.1 UniProtKB/TrEMBL
  ENST00000679821.1 UniProtKB/TrEMBL
  ENST00000680072.1 UniProtKB/TrEMBL
  ENST00000680181.1 UniProtKB/TrEMBL
  ENST00000680365.1 UniProtKB/TrEMBL
  ENST00000680513.1 UniProtKB/TrEMBL
  ENST00000680534.1 UniProtKB/TrEMBL
  ENST00000680766 ENTREZGENE
  ENST00000680766.1 UniProtKB/Swiss-Prot
  ENST00000680952.1 UniProtKB/TrEMBL
  ENST00000681216.1 UniProtKB/TrEMBL
  ENST00000681412.1 UniProtKB/TrEMBL
  ENST00000681722.1 UniProtKB/TrEMBL
GTEx ENSG00000127914 GTEx
HGNC ID HGNC:379 ENTREZGENE
Human Proteome Map AKAP9 Human Proteome Map
InterPro AKAP9/Pericentrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ELK_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PACT_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10142 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10142 ENTREZGENE
OMIM 604001 OMIM
PANTHER A-KINASE ANCHOR PROTEIN 9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR44981 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PACT_coil_coil UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24673 PharmGKB
SMART ELK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MRF6_HUMAN UniProtKB/TrEMBL
  A0A2R8Y590 ENTREZGENE, UniProtKB/TrEMBL
  A0A6I8PUD8_HUMAN UniProtKB/TrEMBL
  A0A7P0T8N5_HUMAN UniProtKB/TrEMBL
  A0A7P0T8Z8_HUMAN UniProtKB/TrEMBL
  A0A7P0T928 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0T939_HUMAN UniProtKB/TrEMBL
  A0A7P0T9A9_HUMAN UniProtKB/TrEMBL
  A0A7P0T9E2_HUMAN UniProtKB/TrEMBL
  A0A7P0TAA2_HUMAN UniProtKB/TrEMBL
  A0A7P0TAD6_HUMAN UniProtKB/TrEMBL
  A0A7P0TAJ1_HUMAN UniProtKB/TrEMBL
  A0A7P0TAX3_HUMAN UniProtKB/TrEMBL
  A0A7P0TB09_HUMAN UniProtKB/TrEMBL
  A0A7P0TBH8_HUMAN UniProtKB/TrEMBL
  A0A7P0TBI4_HUMAN UniProtKB/TrEMBL
  A0A7P0Z4N5_HUMAN UniProtKB/TrEMBL
  A0A7P0Z4Q5_HUMAN UniProtKB/TrEMBL
  A4D1E4_HUMAN UniProtKB/TrEMBL
  A4D1F0 ENTREZGENE
  A4D1F2 ENTREZGENE
  A4D1F4 ENTREZGENE
  AKAP9_HUMAN UniProtKB/Swiss-Prot
  H7BYL6_HUMAN UniProtKB/TrEMBL
  O14869 ENTREZGENE
  O43355 ENTREZGENE
  O94895 ENTREZGENE
  Q5GIA7_HUMAN UniProtKB/TrEMBL
  Q6PJH3_HUMAN UniProtKB/TrEMBL
  Q75N20 ENTREZGENE
  Q99996 ENTREZGENE
  Q9UQH3 ENTREZGENE
  Q9UQQ4 ENTREZGENE
  Q9Y6B8 ENTREZGENE
  Q9Y6Y2 ENTREZGENE
UniProt Secondary A4D1F0 UniProtKB/Swiss-Prot
  A4D1F2 UniProtKB/Swiss-Prot
  A4D1F4 UniProtKB/Swiss-Prot
  O14869 UniProtKB/Swiss-Prot
  O43355 UniProtKB/Swiss-Prot
  O94895 UniProtKB/Swiss-Prot
  Q75N20 UniProtKB/Swiss-Prot
  Q9UQH3 UniProtKB/Swiss-Prot
  Q9UQQ4 UniProtKB/Swiss-Prot
  Q9Y6B8 UniProtKB/Swiss-Prot
  Q9Y6Y2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 AKAP9  A-kinase anchoring protein 9  AKAP9  A kinase (PRKA) anchor protein 9  Symbol and/or name change 5135510 APPROVED
2015-11-24 AKAP9  A-kinase anchoring protein 9  AKAP9  A kinase (PRKA) anchor protein 9  Symbol and/or name change 5135510 APPROVED
2013-10-22 AKAP9  A kinase (PRKA) anchor protein 9  AKAP9  A kinase (PRKA) anchor protein (yotiao) 9  Symbol and/or name change 5135510 APPROVED
2013-10-22 AKAP9  A kinase (PRKA) anchor protein 9  AKAP9  A kinase (PRKA) anchor protein (yotiao) 9  Symbol and/or name change 5135510 APPROVED