KCND3 (potassium voltage-gated channel subfamily D member 3) - Rat Genome Database

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Gene: KCND3 (potassium voltage-gated channel subfamily D member 3) Homo sapiens
Analyze
Symbol: KCND3
Name: potassium voltage-gated channel subfamily D member 3
RGD ID: 68576
HGNC Page HGNC:6239
Description: Contributes to A-type (transient outward) potassium channel activity and voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization. Involved in several processes, including potassium ion export across plasma membrane; regulation of heart rate by cardiac conduction; and ventricular cardiac muscle cell membrane repolarization. Located in plasma membrane. Part of Kv4.3-KChIP1 channel complex. Implicated in Brugada syndrome 9 and spinocerebellar ataxia type 19/22.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: A-type voltage-gated potassium channel KCND3; BRGDA9; KCND3L; KCND3S; KSHIVB; KV4.3; MGC142035; MGC142037; potassium channel, voltage gated Shal related subfamily D, member 3; potassium ionic channel Kv4.3; potassium voltage-gated channel long; potassium voltage-gated channel, Shal-related subfamily, member 3; SCA19; SCA22; sha1-related potassium channel Kv4.3; spinocerebellar ataxia 19; spinocerebellar ataxia 22; voltage-gated K+ channel; voltage-gated potassium channel Kv4.3; voltage-gated potassium channel subunit Kv4.3
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
GRCh381111,770,662 - 111,989,668 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1111,770,662 - 111,989,668 (-)EnsemblGRCh38hg38GRCh38
GRCh371112,313,284 - 112,532,290 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361112,119,977 - 112,333,300 (-)NCBINCBI36Build 36hg18NCBI36
Build 341112,030,495 - 112,243,819NCBI
Celera1110,565,074 - 110,778,378 (-)NCBICelera
Cytogenetic Map1p13.2NCBI
HuRef1110,189,856 - 110,403,378 (-)NCBIHuRef
CHM1_11112,433,439 - 112,646,758 (-)NCBICHM1_1
T2T-CHM13v2.01111,785,561 - 112,004,582 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4-aminopyridine  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chelerythrine  (EXP)
clothianidin  (EXP)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
decabromodiphenyl ether  (ISO)
diallyl trisulfide  (EXP)
dimethylarsinic acid  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
fenvalerate  (ISO)
ferrostatin-1  (ISO)
fluoxetine  (EXP)
fulvestrant  (ISO)
genistein  (ISO)
glufosinate  (ISO)
lipopolysaccharide  (EXP)
maneb  (ISO)
methapyrilene  (EXP)
methoxychlor  (ISO)
mono(2-ethylhexyl) phthalate  (EXP)
nitrofen  (ISO)
O-methyleugenol  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
phenylephrine  (EXP,ISO)
phorbol 13-acetate 12-myristate  (EXP)
pioglitazone  (ISO)
progesterone  (ISO)
raloxifene  (EXP,ISO)
reserpine  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
sarin  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
tamoxifen  (ISO)
testosterone  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
verapamil  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
carvedilol pharmacodynamics pathway  (EXP)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
excitatory synaptic transmission pathway  (ISO)
flecainde pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
ibutilide pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
long term potentiation  (ISO)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Kv4 potassium channel subunits control action potential repolarization and frequency-dependent broadening in rat hippocampal CA1 pyramidal neurones. Kim J, etal., J Physiol. 2005 Nov 15;569(Pt 1):41-57. Epub 2005 Sep 1.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Bone morphogenetic protein-4 contributes to the down-regulation of Kv4.3 K+ channels in pathological cardiac hypertrophy. Sun B, etal., Biochem Biophys Res Commun. 2013 Jul 12;436(4):591-4. doi: 10.1016/j.bbrc.2013.05.113. Epub 2013 Jun 6.
Additional References at PubMed
PMID:8734615   PMID:9843794   PMID:10200233   PMID:10729221   PMID:10942109   PMID:11284128   PMID:12297301   PMID:12384780   PMID:12477932   PMID:12764052   PMID:12928444   PMID:14645239  
PMID:14980207   PMID:15148151   PMID:15498806   PMID:15563876   PMID:15578212   PMID:15890703   PMID:16382104   PMID:16710414   PMID:16782062   PMID:17187064   PMID:17506992   PMID:17725712  
PMID:18052691   PMID:18620005   PMID:18678642   PMID:19213956   PMID:19927631   PMID:20301317   PMID:20301690   PMID:20354865   PMID:20379614   PMID:20550899   PMID:20649599   PMID:21129448  
PMID:21349352   PMID:21422811   PMID:21493962   PMID:21873635   PMID:22023388   PMID:22198508   PMID:22387313   PMID:22457051   PMID:22589738   PMID:22610502   PMID:22683750   PMID:23036686  
PMID:23280837   PMID:23280838   PMID:23291429   PMID:23400760   PMID:23963749   PMID:24762397   PMID:24785509   PMID:24845726   PMID:24850809   PMID:24963029   PMID:25600224   PMID:25854634  
PMID:26016905   PMID:26216464   PMID:28611215   PMID:29259226   PMID:30021884   PMID:30160358   PMID:30758987   PMID:30776697   PMID:31293010   PMID:31600170   PMID:32709127   PMID:32818936  
PMID:34067185   PMID:34666996   PMID:34857952   PMID:34997220   PMID:36724073  


Genomics

Comparative Map Data
KCND3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381111,770,662 - 111,989,668 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1111,770,662 - 111,989,668 (-)EnsemblGRCh38hg38GRCh38
GRCh371112,313,284 - 112,532,290 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361112,119,977 - 112,333,300 (-)NCBINCBI36Build 36hg18NCBI36
Build 341112,030,495 - 112,243,819NCBI
Celera1110,565,074 - 110,778,378 (-)NCBICelera
Cytogenetic Map1p13.2NCBI
HuRef1110,189,856 - 110,403,378 (-)NCBIHuRef
CHM1_11112,433,439 - 112,646,758 (-)NCBICHM1_1
T2T-CHM13v2.01111,785,561 - 112,004,582 (-)NCBIT2T-CHM13v2.0
Kcnd3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393105,359,206 - 105,581,318 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3105,359,646 - 105,581,318 (+)EnsemblGRCm39 Ensembl
GRCm383105,451,890 - 105,674,002 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3105,452,330 - 105,674,002 (+)EnsemblGRCm38mm10GRCm38
MGSCv373105,255,248 - 105,476,920 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363105,580,386 - 105,802,058 (+)NCBIMGSCv36mm8
Celera3107,640,899 - 107,862,899 (+)NCBICelera
Cytogenetic Map3F2.2NCBI
cM Map346.32NCBI
Kcnd3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82195,626,316 - 195,843,690 (+)NCBIGRCr8
mRatBN7.22192,937,950 - 193,155,345 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2192,937,950 - 193,155,345 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2200,532,308 - 200,749,767 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02198,418,563 - 198,635,769 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02193,235,506 - 193,452,721 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02207,923,775 - 208,140,727 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2207,923,775 - 208,140,727 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02227,345,052 - 227,561,680 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42200,709,778 - 200,924,575 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13128,828,320 - 128,840,436 (+)NCBI
Celera2185,602,165 - 185,617,489 (+)NCBICelera
Cytogenetic Map2q34NCBI
Kcnd3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543515,227,615 - 15,431,190 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543515,227,386 - 15,431,136 (-)NCBIChiLan1.0ChiLan1.0
KCND3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21115,037,963 - 115,255,901 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11114,185,438 - 114,404,074 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01114,433,203 - 114,651,894 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11125,702,654 - 125,910,075 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1125,696,907 - 125,909,814 (+)Ensemblpanpan1.1panPan2
KCND3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11763,470,829 - 63,668,354 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1763,470,415 - 63,668,035 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1762,986,103 - 63,182,211 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01764,647,680 - 64,841,597 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1764,637,936 - 64,841,028 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11763,378,372 - 63,574,346 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01763,437,366 - 63,633,850 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01764,235,078 - 64,431,380 (+)NCBIUU_Cfam_GSD_1.0
Kcnd3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505816,850,374 - 17,059,824 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936690422,883 - 621,308 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936690417,907 - 627,025 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCND3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4108,246,237 - 108,621,510 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14108,394,687 - 108,621,514 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24118,542,614 - 118,763,673 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KCND3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12021,618,365 - 21,833,443 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2021,625,147 - 21,833,186 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603836,641,070 - 36,861,725 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnd3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247727,484,632 - 7,693,329 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247727,482,462 - 7,694,316 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCND3
515 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001378969.1(KCND3):c.446A>G (p.Asp149Gly) single nucleotide variant Cardiovascular phenotype [RCV004023512]|Spinocerebellar ataxia type 19/22 [RCV001296003]|not provided [RCV002223220]|not specified [RCV000518105] Chr1:111982281 [GRCh38]
Chr1:112524903 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1917C>A (p.Asn639Lys) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000544304] Chr1:111776128 [GRCh38]
Chr1:112318750 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.1703G>A (p.Arg568His) single nucleotide variant Cardiovascular phenotype [RCV002397224]|Spinocerebellar ataxia type 19/22 [RCV000640964]|not provided [RCV001563036] Chr1:111777089 [GRCh38]
Chr1:112319711 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.459G>A (p.Ser153=) single nucleotide variant Cardiovascular phenotype [RCV002341572]|Spinocerebellar ataxia type 19/22 [RCV001079409]|not provided [RCV000712064] Chr1:111982268 [GRCh38]
Chr1:112524890 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.91C>T (p.Pro31Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001370789]|not provided [RCV000712070] Chr1:111982636 [GRCh38]
Chr1:112525258 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1709T>C (p.Met570Thr) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000529534] Chr1:111777083 [GRCh38]
Chr1:112319705 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.937A>G (p.Thr313Ala) single nucleotide variant not specified [RCV000518168] Chr1:111981790 [GRCh38]
Chr1:112524412 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.397T>C (p.Tyr133His) single nucleotide variant not specified [RCV000517048] Chr1:111982330 [GRCh38]
Chr1:112524952 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1054A>G (p.Thr352Ala) single nucleotide variant not specified [RCV000517569] Chr1:111981673 [GRCh38]
Chr1:112524295 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.677TCT[1] (p.Phe227del) microsatellite Spinocerebellar ataxia type 19/22 [RCV000056298]|not provided [RCV001268494] Chr1:111982045..111982047 [GRCh38]
Chr1:112524667..112524669 [GRCh37]
Chr1:1p13.2		 pathogenic
NM_001378969.1(KCND3):c.1054A>C (p.Thr352Pro) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000056299]|not provided [RCV001268855] Chr1:111981673 [GRCh38]
Chr1:112524295 [GRCh37]
Chr1:1p13.2		 pathogenic
NM_001378969.1(KCND3):c.1119G>A (p.Met373Ile) single nucleotide variant Variant of unknown significance [RCV000056300] Chr1:111787094 [GRCh38]
Chr1:112329716 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1169G>A (p.Ser390Asn) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001849175]|Variant of unknown significance [RCV000056301] Chr1:111787044 [GRCh38]
Chr1:112329666 [GRCh37]
Chr1:1p13.2		 pathogenic|uncertain significance
NM_004980.4(KCND3):c.1107-80240A>G single nucleotide variant Lung cancer [RCV000089720] Chr1:111867346 [GRCh38]
Chr1:112409968 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 copy number gain See cases [RCV000051827] Chr1:109756630..118650204 [GRCh38]
Chr1:110299252..119192827 [GRCh37]
Chr1:110100775..118994350 [NCBI36]
Chr1:1p13.3-12		 pathogenic
NM_001378969.1(KCND3):c.264C>T (p.Pro88=) single nucleotide variant Cardiovascular phenotype [RCV000621441]|Spinocerebellar ataxia type 19/22 [RCV001513005]|not provided [RCV004714451]|not specified [RCV000117317] Chr1:111982463 [GRCh38]
Chr1:112525085 [GRCh37]
Chr1:1p13.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile) single nucleotide variant Brugada syndrome 9 [RCV000172844]|Spinocerebellar ataxia type 19/22 [RCV000460804]|not provided [RCV000444260] Chr1:111787039 [GRCh38]
Chr1:112329661 [GRCh37]
Chr1:1p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) single nucleotide variant Brugada syndrome 9 [RCV000172842]|Cardiovascular phenotype [RCV000618307]|Spinocerebellar ataxia type 19/22 [RCV000552635]|not provided [RCV000415916]|not specified [RCV002247580] Chr1:111780713 [GRCh38]
Chr1:112323335 [GRCh37]
Chr1:1p13.2		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg) single nucleotide variant Brugada syndrome 9 [RCV000172843]|Cardiovascular phenotype [RCV000619002]|Spinocerebellar ataxia type 19/22 [RCV001370775]|Spinocerebellar ataxia type 19/22 [RCV002505242]|not provided [RCV000712060] Chr1:111776247 [GRCh38]
Chr1:112318869 [GRCh37]
Chr1:1p13.2		 pathogenic|likely benign|uncertain significance
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12		 pathogenic
GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1 copy number loss See cases [RCV000142760] Chr1:105468292..112190626 [GRCh38]
Chr1:106010914..112733248 [GRCh37]
Chr1:105812437..112534771 [NCBI36]
Chr1:1p21.1-13.2		 pathogenic
NM_001378969.1(KCND3):c.1034G>T (p.Gly345Val) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000194577] Chr1:111981693 [GRCh38]
Chr1:112524315 [GRCh37]
Chr1:1p13.2		 pathogenic
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg) single nucleotide variant Cardiovascular phenotype [RCV000249346]|KCND3-related disorder [RCV004737334]|Spinocerebellar ataxia type 19/22 [RCV000558965]|not provided [RCV001555788]|not specified [RCV000208485] Chr1:111982086 [GRCh38]
Chr1:112524708 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.1354G>A (p.Glu452Lys) single nucleotide variant Cardiovascular phenotype [RCV002383993]|KCND3-related disorder [RCV004553134]|Primary dilated cardiomyopathy [RCV000852587]|Spinocerebellar ataxia type 19/22 [RCV001078864]|not provided [RCV000766997]|not specified [RCV000518610] Chr1:111780707 [GRCh38]
Chr1:112323329 [GRCh37]
Chr1:1p13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378969.1(KCND3):c.817G>A (p.Gly273Ser) single nucleotide variant Brugada syndrome [RCV000208136] Chr1:111981910 [GRCh38]
Chr1:112524532 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_001378969.1(KCND3):c.633G>T (p.Pro211=) single nucleotide variant Cardiovascular phenotype [RCV002365198]|Spinocerebellar ataxia type 19/22 [RCV001089194]|not provided [RCV000712067] Chr1:111982094 [GRCh38]
Chr1:112524716 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.669G>C (p.Ser223=) single nucleotide variant Cardiovascular phenotype [RCV000620407]|Spinocerebellar ataxia type 19/22 [RCV000234137]|Spinocerebellar ataxia type 19/22 [RCV002487073]|not provided [RCV004713424]|not specified [RCV000443256] Chr1:111982058 [GRCh38]
Chr1:112524680 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val) single nucleotide variant Cardiovascular phenotype [RCV000619982]|KCND3-related disorder [RCV004547759]|Spinocerebellar ataxia type 19/22 [RCV001429957]|not provided [RCV001354553]|not specified [RCV001289014] Chr1:111777219 [GRCh38]
Chr1:112319841 [GRCh37]
Chr1:1p13.2		 benign|likely benign|uncertain significance
NM_001378969.1(KCND3):c.1519-5C>T single nucleotide variant Cardiovascular phenotype [RCV002395385]|Spinocerebellar ataxia type 19/22 [RCV001488862] Chr1:111777278 [GRCh38]
Chr1:112319900 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.627G>C (p.Thr209=) single nucleotide variant Cardiovascular phenotype [RCV000253469]|Spinocerebellar ataxia type 19/22 [RCV000457933]|not provided [RCV001701983]|not specified [RCV000605395] Chr1:111982100 [GRCh38]
Chr1:112524722 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.855C>G (p.Ala285=) single nucleotide variant Cardiovascular phenotype [RCV000254275] Chr1:111981872 [GRCh38]
Chr1:112524494 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1269+15C>A single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002058177]|not provided [RCV004714586]|not specified [RCV000254436] Chr1:111786929 [GRCh38]
Chr1:112329551 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1646G>A (p.Arg549His) single nucleotide variant Cardiovascular phenotype [RCV000243000]|Spinocerebellar ataxia type 19/22 [RCV000696815] Chr1:111777146 [GRCh38]
Chr1:112319768 [GRCh37]
Chr1:1p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378969.1(KCND3):c.1416C>T (p.Ile472=) single nucleotide variant Cardiovascular phenotype [RCV003162737]|not provided [RCV001698414] Chr1:111780270 [GRCh38]
Chr1:112322892 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.186G>A (p.Pro62=) single nucleotide variant Cardiovascular phenotype [RCV000621298]|Spinocerebellar ataxia type 19/22 [RCV002529394]|not provided [RCV000994072] Chr1:111982541 [GRCh38]
Chr1:112525163 [GRCh37]
Chr1:1p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378969.1(KCND3):c.1359G>A (p.Ala453=) single nucleotide variant Cardiovascular phenotype [RCV002384342]|KCND3-related disorder [RCV004547724]|Spinocerebellar ataxia type 19/22 [RCV001443461]|not specified [RCV000606138] Chr1:111780702 [GRCh38]
Chr1:112323324 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1336C>T (p.Arg446Cys) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000640967] Chr1:111780725 [GRCh38]
Chr1:112323347 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.667T>C (p.Ser223Pro) single nucleotide variant not specified [RCV000516938] Chr1:111982060 [GRCh38]
Chr1:112524682 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.912C>G (p.Ser304=) single nucleotide variant Cardiovascular phenotype [RCV000620138] Chr1:111981815 [GRCh38]
Chr1:112524437 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.528C>G (p.Pro176=) single nucleotide variant Cardiovascular phenotype [RCV002350448]|not provided [RCV004568324]|not specified [RCV000605288] Chr1:111982199 [GRCh38]
Chr1:112524821 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1371G>A (p.Thr457=) single nucleotide variant Cardiovascular phenotype [RCV000620690]|Spinocerebellar ataxia type 19/22 [RCV002483723]|not provided [RCV001270075] Chr1:111780690 [GRCh38]
Chr1:112323312 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1518+4T>C single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000640968] Chr1:111778432 [GRCh38]
Chr1:112321054 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1756C>G (p.Leu586Val) single nucleotide variant Brugada syndrome 9 [RCV000678953]|Cardiovascular phenotype [RCV000621723]|Spinocerebellar ataxia type 19/22 [RCV000801665] Chr1:111777036 [GRCh38]
Chr1:112319658 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.1195G>C (p.Val399Leu) single nucleotide variant not provided [RCV000413161] Chr1:111787018 [GRCh38]
Chr1:112329640 [GRCh37]
Chr1:1p13.2		 likely pathogenic
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu) single nucleotide variant Cardiovascular phenotype [RCV000618676]|Spinocerebellar ataxia type 19/22 [RCV001080205]|not provided [RCV000845314]|not specified [RCV000413117] Chr1:111982722 [GRCh38]
Chr1:112525344 [GRCh37]
Chr1:1p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378969.1(KCND3):c.1313C>G (p.Ser438Trp) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000542424] Chr1:111780748 [GRCh38]
Chr1:112323370 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1519-4G>T single nucleotide variant Cardiovascular phenotype [RCV000618672]|Spinocerebellar ataxia type 19/22 [RCV000473349]|not specified [RCV000418278] Chr1:111777277 [GRCh38]
Chr1:112319899 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.342C>T (p.Tyr114=) single nucleotide variant not specified [RCV000419334] Chr1:111982385 [GRCh38]
Chr1:112525007 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.375G>A (p.Pro125=) single nucleotide variant Cardiovascular phenotype [RCV000618142]|Spinocerebellar ataxia type 19/22 [RCV000459525]|not provided [RCV004713952]|not specified [RCV000419505] Chr1:111982352 [GRCh38]
Chr1:112524974 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1323C>T (p.Tyr441=) single nucleotide variant Cardiovascular phenotype [RCV000617945]|Spinocerebellar ataxia type 19/22 [RCV000469000]|not provided [RCV004713968]|not specified [RCV000436391] Chr1:111780738 [GRCh38]
Chr1:112323360 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg) single nucleotide variant Brugada syndrome 9 [RCV002255097]|Neurodevelopmental delay [RCV003223405]|Spinocerebellar ataxia type 19/22 [RCV000757925]|not provided [RCV000430266] Chr1:111787102 [GRCh38]
Chr1:112329724 [GRCh37]
Chr1:1p13.2		 pathogenic|likely pathogenic
NM_001378969.1(KCND3):c.1256G>A (p.Arg419His) single nucleotide variant Cardiovascular phenotype [RCV003298458]|not provided [RCV000420331] Chr1:111786957 [GRCh38]
Chr1:112329579 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1153T>C (p.Ser385Pro) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000416456]|not provided [RCV004719810] Chr1:111787060 [GRCh38]
Chr1:112329682 [GRCh37]
Chr1:1p13.2		 pathogenic
GRCh37/hg19 1p13.2(chr1:112311427-113836310)x1 copy number loss See cases [RCV000448763] Chr1:112311427..113836310 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1051T>C (p.Phe351Leu) single nucleotide variant not provided [RCV000483449] Chr1:111981676 [GRCh38]
Chr1:112524298 [GRCh37]
Chr1:1p13.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala) single nucleotide variant Cardiovascular phenotype [RCV002393199]|KCND3-related disorder [RCV004551555]|Spinocerebellar ataxia type 19/22 [RCV001079066]|not provided [RCV000786333]|not specified [RCV000482547] Chr1:111780230 [GRCh38]
Chr1:112322852 [GRCh37]
Chr1:1p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378969.1(KCND3):c.1269+6C>T single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000468354] Chr1:111786938 [GRCh38]
Chr1:112329560 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1062C>A (p.Ile354=) single nucleotide variant Cardiovascular phenotype [RCV000617822]|Spinocerebellar ataxia type 19/22 [RCV001392551]|not provided [RCV000712056]|not specified [RCV001700124] Chr1:111981665 [GRCh38]
Chr1:112524287 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.117T>C (p.Asp39=) single nucleotide variant Cardiovascular phenotype [RCV000620105]|Spinocerebellar ataxia type 19/22 [RCV000472459]|Spinocerebellar ataxia type 19/22 [RCV002496827]|not provided [RCV001696884]|not specified [RCV000600534] Chr1:111982610 [GRCh38]
Chr1:112525232 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.957C>G (p.Ser319=) single nucleotide variant Cardiovascular phenotype [RCV000618250]|Spinocerebellar ataxia type 19/22 [RCV000465050]|not provided [RCV004714025]|not specified [RCV000603249] Chr1:111981770 [GRCh38]
Chr1:112524392 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1411C>T (p.Leu471Phe) single nucleotide variant not provided [RCV000478027] Chr1:111780275 [GRCh38]
Chr1:112322897 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.870G>T (p.Arg290=) single nucleotide variant Cardiovascular phenotype [RCV002446884]|Spinocerebellar ataxia type 19/22 [RCV000473194] Chr1:111981857 [GRCh38]
Chr1:112524479 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met) single nucleotide variant Brugada syndrome 9 [RCV000505597]|Cardiovascular phenotype [RCV003302733]|Spinocerebellar ataxia type 19/22 [RCV001857017]|Spinocerebellar ataxia type 19/22 [RCV002481586]|not provided [RCV000498826] Chr1:111780691 [GRCh38]
Chr1:112323313 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001378969.1(KCND3):c.89C>A (p.Ala30Asp) single nucleotide variant Cardiovascular phenotype [RCV003302830]|Spinocerebellar ataxia type 19/22 [RCV000537289] Chr1:111982638 [GRCh38]
Chr1:112525260 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001378969.1(KCND3):c.1601C>T (p.Pro534Leu) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000555772] Chr1:111777191 [GRCh38]
Chr1:112319813 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1269+13C>T single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002065242]|not provided [RCV003411453]|not specified [RCV000605085] Chr1:111786931 [GRCh38]
Chr1:112329553 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.1292G>A (p.Arg431His) single nucleotide variant Brugada syndrome 9 [RCV003338690]|Cardiovascular phenotype [RCV000619969]|Spinocerebellar ataxia type 19/22 [RCV001226501]|not provided [RCV000992219] Chr1:111780769 [GRCh38]
Chr1:112323391 [GRCh37]
Chr1:1p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378969.1(KCND3):c.1543A>C (p.Met515Leu) single nucleotide variant Cardiovascular phenotype [RCV000617210] Chr1:111777249 [GRCh38]
Chr1:112319871 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.626C>T (p.Thr209Met) single nucleotide variant Cardiovascular phenotype [RCV000617249]|not provided [RCV003129942] Chr1:111982101 [GRCh38]
Chr1:112524723 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.63G>C (p.Pro21=) single nucleotide variant Cardiovascular phenotype [RCV000617345]|Spinocerebellar ataxia type 19/22 [RCV002506501] Chr1:111982664 [GRCh38]
Chr1:112525286 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1149C>T (p.Phe383=) single nucleotide variant Cardiovascular phenotype [RCV000617884]|Spinocerebellar ataxia type 19/22 [RCV001430427] Chr1:111787064 [GRCh38]
Chr1:112329686 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1959C>T (p.Ser653=) single nucleotide variant Cardiovascular phenotype [RCV000618336]|Spinocerebellar ataxia type 19/22 [RCV001088457]|not provided [RCV000640970] Chr1:111776086 [GRCh38]
Chr1:112318708 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.1849A>G (p.Ile617Val) single nucleotide variant Cardiovascular phenotype [RCV002406386]|Spinocerebellar ataxia type 19/22 [RCV000640965] Chr1:111776196 [GRCh38]
Chr1:112318818 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.447C>T (p.Asp149=) single nucleotide variant Cardiovascular phenotype [RCV000619312]|Spinocerebellar ataxia type 19/22 [RCV001497688] Chr1:111982280 [GRCh38]
Chr1:112524902 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1645C>T (p.Arg549Cys) single nucleotide variant Cardiovascular phenotype [RCV000617665]|Neurodevelopmental delay [RCV003223411]|not provided [RCV002510932] Chr1:111777147 [GRCh38]
Chr1:112319769 [GRCh37]
Chr1:1p13.2		 likely pathogenic|uncertain significance
NM_001378969.1(KCND3):c.1308C>G (p.Gly436=) single nucleotide variant Cardiovascular phenotype [RCV002384140]|Spinocerebellar ataxia type 19/22 [RCV000532262]|not provided [RCV001697310]|not specified [RCV000607881] Chr1:111780753 [GRCh38]
Chr1:112323375 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.-36G>C single nucleotide variant not specified [RCV000610261] Chr1:111982762 [GRCh38]
Chr1:112525384 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1106+10C>T single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001457195]|not provided [RCV000712057]|not specified [RCV000610492] Chr1:111981611 [GRCh38]
Chr1:112524233 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.-30G>A single nucleotide variant not specified [RCV000616451] Chr1:111982756 [GRCh38]
Chr1:112525378 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.786C>T (p.Ile262=) single nucleotide variant Cardiovascular phenotype [RCV003160086]|Spinocerebellar ataxia type 19/22 [RCV001521120]|not specified [RCV000608500] Chr1:111981941 [GRCh38]
Chr1:112524563 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.727C>T (p.Leu243=) single nucleotide variant Cardiovascular phenotype [RCV002385942]|Spinocerebellar ataxia type 19/22 [RCV001493410]|not provided [RCV001171759]|not specified [RCV000614200] Chr1:111982000 [GRCh38]
Chr1:112524622 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.879C>T (p.Arg293=) single nucleotide variant Cardiovascular phenotype [RCV002377266]|Spinocerebellar ataxia type 19/22 [RCV002531527]|not specified [RCV000614327] Chr1:111981848 [GRCh38]
Chr1:112524470 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.-27del deletion not specified [RCV000614346] Chr1:111982753 [GRCh38]
Chr1:112525375 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1131G>T (p.Thr377=) single nucleotide variant Cardiovascular phenotype [RCV002325144]|Spinocerebellar ataxia type 19/22 [RCV001517336]|Spinocerebellar ataxia type 19/22 [RCV002491246]|not provided [RCV000887628] Chr1:111787082 [GRCh38]
Chr1:112329704 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.-73+753A>G single nucleotide variant not specified [RCV000601721] Chr1:111988752 [GRCh38]
Chr1:112531374 [GRCh37]
Chr1:1p13.2		 likely benign
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2		 pathogenic
NM_001378969.1(KCND3):c.651G>A (p.Pro217=) single nucleotide variant Cardiovascular phenotype [RCV002368048]|Spinocerebellar ataxia type 19/22 [RCV001411201]|not specified [RCV000603771] Chr1:111982076 [GRCh38]
Chr1:112524698 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.514G>A (p.Ala172Thr) single nucleotide variant Cardiovascular phenotype [RCV000620664]|Spinocerebellar ataxia type 19/22 [RCV001868114] Chr1:111982213 [GRCh38]
Chr1:112524835 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.693G>C (p.Thr231=) single nucleotide variant Cardiovascular phenotype [RCV000621941]|Spinocerebellar ataxia type 19/22 [RCV001411213] Chr1:111982034 [GRCh38]
Chr1:112524656 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.38G>A (p.Arg13Gln) single nucleotide variant Cardiovascular phenotype [RCV000622168] Chr1:111982689 [GRCh38]
Chr1:112525311 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1924A>T (p.Ile642Phe) single nucleotide variant Cardiovascular phenotype [RCV002406387]|Spinocerebellar ataxia type 19/22 [RCV000640966] Chr1:111776121 [GRCh38]
Chr1:112318743 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.-47G>C single nucleotide variant not specified [RCV000600707] Chr1:111982773 [GRCh38]
Chr1:112525395 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1741A>T (p.Ser581Cys) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000700474] Chr1:111777051 [GRCh38]
Chr1:112319673 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.696G>A (p.Ala232=) single nucleotide variant Cardiovascular phenotype [RCV002360846]|Spinocerebellar ataxia type 19/22 [RCV001435759]|not provided [RCV000712068] Chr1:111982031 [GRCh38]
Chr1:112524653 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.906C>G (p.Arg302=) single nucleotide variant not provided [RCV000712069] Chr1:111981821 [GRCh38]
Chr1:112524443 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.957C>T (p.Ser319=) single nucleotide variant Cardiovascular phenotype [RCV002386282]|Spinocerebellar ataxia type 19/22 [RCV001475879]|not provided [RCV000712071] Chr1:111981770 [GRCh38]
Chr1:112524392 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.1934T>C (p.Ile645Thr) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000702238] Chr1:111776111 [GRCh38]
Chr1:112318733 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1027G>A (p.Glu343Lys) single nucleotide variant not provided [RCV000712055] Chr1:111981700 [GRCh38]
Chr1:112524322 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1769G>A (p.Arg590His) single nucleotide variant Cardiovascular phenotype [RCV003303204]|Spinocerebellar ataxia type 19/22 [RCV001233302]|not provided [RCV000712058] Chr1:111776276 [GRCh38]
Chr1:112318898 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.1496C>G (p.Ser499Cys) single nucleotide variant Cardiovascular phenotype [RCV004629299]|Spinocerebellar ataxia type 19/22 [RCV000691029]|Spinocerebellar ataxia type 19/22 [RCV002493172] Chr1:111778458 [GRCh38]
Chr1:112321080 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1794C>T (p.Asp598=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001441664]|not provided [RCV000712059] Chr1:111776251 [GRCh38]
Chr1:112318873 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.207G>A (p.Thr69=) single nucleotide variant Cardiovascular phenotype [RCV002422622]|KCND3-related disorder [RCV004547885]|Spinocerebellar ataxia type 19/22 [RCV001087318]|not provided [RCV000712061] Chr1:111982520 [GRCh38]
Chr1:112525142 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.433G>A (p.Glu145Lys) single nucleotide variant not provided [RCV000712062] Chr1:111982294 [GRCh38]
Chr1:112524916 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.44C>T (p.Ala15Val) single nucleotide variant Cardiovascular phenotype [RCV003372832]|not provided [RCV000712063] Chr1:111982683 [GRCh38]
Chr1:112525305 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.553T>C (p.Phe185Leu) single nucleotide variant not provided [RCV000712065] Chr1:111982174 [GRCh38]
Chr1:112524796 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.633G>A (p.Pro211=) single nucleotide variant Cardiovascular phenotype [RCV003165946]|Spinocerebellar ataxia type 19/22 [RCV002532926]|not provided [RCV000712066] Chr1:111982094 [GRCh38]
Chr1:112524716 [GRCh37]
Chr1:1p13.2		 likely benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001378969.1(KCND3):c.789C>T (p.Asp263=) single nucleotide variant Cardiovascular phenotype [RCV002409014]|Spinocerebellar ataxia type 19/22 [RCV001522832]|not specified [RCV001664490] Chr1:111981938 [GRCh38]
Chr1:112524560 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000853621]|not provided [RCV001268117] Chr1:111787083 [GRCh38]
Chr1:112329705 [GRCh37]
Chr1:1p13.2		 pathogenic
NM_001378969.1(KCND3):c.1686G>A (p.Leu562=) single nucleotide variant Cardiovascular phenotype [RCV002414579] Chr1:111777106 [GRCh38]
Chr1:112319728 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.1655AGA[1] (p.Lys553del) microsatellite not provided [RCV000994069] Chr1:111777132..111777134 [GRCh38]
Chr1:112319754..112319756 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1491G>A (p.Leu497=) single nucleotide variant not provided [RCV000994070] Chr1:111778463 [GRCh38]
Chr1:112321085 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.-72-245C>T single nucleotide variant not provided [RCV001550759] Chr1:111983043 [GRCh38]
Chr1:112525665 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1107-250A>C single nucleotide variant not provided [RCV001680281] Chr1:111787356 [GRCh38]
Chr1:112329978 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1076G>T (p.Trp359Leu) single nucleotide variant Seizure [RCV001007561] Chr1:111981651 [GRCh38]
Chr1:112524273 [GRCh37]
Chr1:1p13.2		 likely pathogenic
NM_001378969.1(KCND3):c.621C>T (p.Cys207=) single nucleotide variant Cardiovascular phenotype [RCV002363445]|not provided [RCV000942588] Chr1:111982106 [GRCh38]
Chr1:112524728 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1766+3G>A single nucleotide variant Cardiovascular phenotype [RCV003372896]|Spinocerebellar ataxia type 19/22 [RCV001437574]|not provided [RCV000865219] Chr1:111777023 [GRCh38]
Chr1:112319645 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1167G>A (p.Leu389=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001434154] Chr1:111787046 [GRCh38]
Chr1:112329668 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1524C>T (p.His508=) single nucleotide variant Cardiovascular phenotype [RCV002390851]|Spinocerebellar ataxia type 19/22 [RCV001412114] Chr1:111777268 [GRCh38]
Chr1:112319890 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1041G>A (p.Ser347=) single nucleotide variant Cardiovascular phenotype [RCV002390765]|Spinocerebellar ataxia type 19/22 [RCV001402272]|Spinocerebellar ataxia type 19/22 [RCV002501244]|not provided [RCV003389661] Chr1:111981686 [GRCh38]
Chr1:112524308 [GRCh37]
Chr1:1p13.2		 likely benign|conflicting interpretations of pathogenicity
NM_001378969.1(KCND3):c.609G>A (p.Glu203=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001437231] Chr1:111982118 [GRCh38]
Chr1:112524740 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.618G>A (p.Pro206=) single nucleotide variant Cardiovascular phenotype [RCV004027757]|Spinocerebellar ataxia type 19/22 [RCV000869630] Chr1:111982109 [GRCh38]
Chr1:112524731 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1767-72T>C single nucleotide variant not provided [RCV000839148] Chr1:111776350 [GRCh38]
Chr1:112318972 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1270-153G>C single nucleotide variant not provided [RCV000839354] Chr1:111780944 [GRCh38]
Chr1:112323566 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1372-112dup duplication not provided [RCV000838328] Chr1:111780417..111780418 [GRCh38]
Chr1:112323039..112323040 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1269+154C>T single nucleotide variant not provided [RCV000835773] Chr1:111786790 [GRCh38]
Chr1:112329412 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1372-34G>A single nucleotide variant not provided [RCV000834173] Chr1:111780348 [GRCh38]
Chr1:112322970 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.-72-119T>C single nucleotide variant not provided [RCV000842146] Chr1:111982917 [GRCh38]
Chr1:112525539 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1879G>A (p.Gly627Arg) single nucleotide variant Cardiovascular phenotype [RCV002406777]|Spinocerebellar ataxia type 19/22 [RCV000801617]|Spinocerebellar ataxia type 19/22 [RCV002477834] Chr1:111776166 [GRCh38]
Chr1:112318788 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1339A>G (p.Asn447Asp) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000821670] Chr1:111780722 [GRCh38]
Chr1:112323344 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1697G>A (p.Arg566His) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002550634]|not provided [RCV000992222] Chr1:111777095 [GRCh38]
Chr1:112319717 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1519-96G>A single nucleotide variant not provided [RCV000838648] Chr1:111777369 [GRCh38]
Chr1:112319991 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1518+258G>A single nucleotide variant not provided [RCV000843722] Chr1:111778178 [GRCh38]
Chr1:112320800 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1724C>T (p.Thr575Met) single nucleotide variant Cardiovascular phenotype [RCV003296835] Chr1:111777068 [GRCh38]
Chr1:112319690 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1784T>G (p.Leu595Trp) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000811749] Chr1:111776261 [GRCh38]
Chr1:112318883 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p13.3-13.2(chr1:110994179-112360446)x1 copy number loss not provided [RCV000849607] Chr1:110994179..112360446 [GRCh37]
Chr1:1p13.3-13.2		 pathogenic
NM_001378969.1(KCND3):c.-72-284C>A single nucleotide variant not provided [RCV000831602] Chr1:111983082 [GRCh38]
Chr1:112525704 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1549G>C (p.Glu517Gln) single nucleotide variant not provided [RCV000992221] Chr1:111777243 [GRCh38]
Chr1:112319865 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.-72-311T>C single nucleotide variant not provided [RCV000843720] Chr1:111983109 [GRCh38]
Chr1:112525731 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1766+260T>C single nucleotide variant not provided [RCV000843721] Chr1:111776766 [GRCh38]
Chr1:112319388 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1269+270C>T single nucleotide variant not provided [RCV000844072] Chr1:111786674 [GRCh38]
Chr1:112329296 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1106+296G>T single nucleotide variant not provided [RCV000832077] Chr1:111981325 [GRCh38]
Chr1:112523947 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1462-208A>G single nucleotide variant not provided [RCV000842041] Chr1:111778700 [GRCh38]
Chr1:112321322 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.257G>A (p.Arg86Gln) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000850227] Chr1:111982470 [GRCh38]
Chr1:112525092 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1277G>A (p.Arg426His) single nucleotide variant Cardiovascular phenotype [RCV002372712]|Spinocerebellar ataxia type 19/22 [RCV002549786]|not provided [RCV000992218] Chr1:111780784 [GRCh38]
Chr1:112323406 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.430G>A (p.Ala144Thr) single nucleotide variant Cardiovascular phenotype [RCV002327217]|Spinocerebellar ataxia type 19/22 [RCV002550635]|not provided [RCV000992223] Chr1:111982297 [GRCh38]
Chr1:112524919 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.9C>T (p.Ala3=) single nucleotide variant Cardiovascular phenotype [RCV002381967]|Spinocerebellar ataxia type 19/22 [RCV000869686] Chr1:111982718 [GRCh38]
Chr1:112525340 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1427A>G (p.His476Arg) single nucleotide variant Cardiovascular phenotype [RCV002391049]|Spinocerebellar ataxia type 19/22 [RCV001214863]|not provided [RCV000992220] Chr1:111780259 [GRCh38]
Chr1:112322881 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.256C>G (p.Arg86Gly) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001242995] Chr1:111982471 [GRCh38]
Chr1:112525093 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.346G>A (p.Asp116Asn) single nucleotide variant Cardiovascular phenotype [RCV004629509]|Spinocerebellar ataxia type 19/22 [RCV001235255]|Spinocerebellar ataxia type 19/22 [RCV002480767] Chr1:111982381 [GRCh38]
Chr1:112525003 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.386G>C (p.Gly129Ala) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001210201] Chr1:111982341 [GRCh38]
Chr1:112524963 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.950G>A (p.Cys317Tyr) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000853618] Chr1:111981777 [GRCh38]
Chr1:112524399 [GRCh37]
Chr1:1p13.2		 pathogenic
NM_001378969.1(KCND3):c.1013T>A (p.Val338Glu) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000853619] Chr1:111981714 [GRCh38]
Chr1:112524336 [GRCh37]
Chr1:1p13.2		 pathogenic
NM_001378969.1(KCND3):c.1937C>A (p.Ala646Asp) single nucleotide variant not provided [RCV003231716] Chr1:111776108 [GRCh38]
Chr1:112318730 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.492C>T (p.Ser164=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002073092]|not specified [RCV001663483] Chr1:111982235 [GRCh38]
Chr1:112524857 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1519-67A>G single nucleotide variant not provided [RCV001555210] Chr1:111777340 [GRCh38]
Chr1:112319962 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.*225T>C single nucleotide variant not provided [RCV001561984] Chr1:111775852 [GRCh38]
Chr1:112318474 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1123C>T (p.Pro375Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000853620] Chr1:111787090 [GRCh38]
Chr1:112329712 [GRCh37]
Chr1:1p13.2		 pathogenic
NM_001378969.1(KCND3):c.519C>T (p.Phe173=) single nucleotide variant Cardiovascular phenotype [RCV004027603]|Spinocerebellar ataxia type 19/22 [RCV000863811] Chr1:111982208 [GRCh38]
Chr1:112524830 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.576C>T (p.Phe192=) single nucleotide variant Cardiovascular phenotype [RCV002354697]|Spinocerebellar ataxia type 19/22 [RCV001445244] Chr1:111982151 [GRCh38]
Chr1:112524773 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1943A>G (p.Asn648Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001226500] Chr1:111776102 [GRCh38]
Chr1:112318724 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1372-6dup duplication Spinocerebellar ataxia type 19/22 [RCV002068717]|not provided [RCV000994071]|not specified [RCV001701280] Chr1:111780319..111780320 [GRCh38]
Chr1:112322941..112322942 [GRCh37]
Chr1:1p13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001378969.1(KCND3):c.1518+212A>C single nucleotide variant not provided [RCV001595374] Chr1:111778224 [GRCh38]
Chr1:112320846 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1107-110C>A single nucleotide variant not provided [RCV001655025] Chr1:111787216 [GRCh38]
Chr1:112329838 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1518+26A>T single nucleotide variant not provided [RCV001717733] Chr1:111778410 [GRCh38]
Chr1:112321032 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.-73+620G>T single nucleotide variant not provided [RCV001717734] Chr1:111988885 [GRCh38]
Chr1:112531507 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.*215T>C single nucleotide variant not provided [RCV001677655] Chr1:111775862 [GRCh38]
Chr1:111775862..111775863 [GRCh38]
Chr1:112318484 [GRCh37]
Chr1:112318484..112318485 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu) single nucleotide variant Cardiovascular phenotype [RCV003307800]|Spinocerebellar ataxia type 19/22 [RCV001027678] Chr1:111981657 [GRCh38]
Chr1:112524279 [GRCh37]
Chr1:1p13.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001378969.1(KCND3):c.1766+224dup duplication not provided [RCV001585358] Chr1:111776791..111776792 [GRCh38]
Chr1:112319413..112319414 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1371+116C>T single nucleotide variant not provided [RCV001679937] Chr1:111780574 [GRCh38]
Chr1:112323196 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.611C>T (p.Thr204Met) single nucleotide variant Cardiovascular phenotype [RCV002357167]|Spinocerebellar ataxia type 19/22 [RCV001647138] Chr1:111982116 [GRCh38]
Chr1:112524738 [GRCh37]
Chr1:1p13.2		 likely pathogenic|uncertain significance
NM_001378969.1(KCND3):c.1518+74C>T single nucleotide variant not provided [RCV001610280] Chr1:111778362 [GRCh38]
Chr1:112320984 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1314G>A (p.Ser438=) single nucleotide variant Cardiovascular phenotype [RCV003163786]|Spinocerebellar ataxia type 19/22 [RCV003640983]|not provided [RCV001663479] Chr1:111780747 [GRCh38]
Chr1:112323369 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.-1C>T single nucleotide variant not provided [RCV001663480] Chr1:111982727 [GRCh38]
Chr1:112525349 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1489_1490del (p.Leu497fs) deletion not provided [RCV001171758] Chr1:111778464..111778465 [GRCh38]
Chr1:112321086..112321087 [GRCh37]
Chr1:1p13.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001378969.1(KCND3):c.1960G>A (p.Ala654Thr) single nucleotide variant Cardiovascular phenotype [RCV002418669]|Spinocerebellar ataxia type 19/22 [RCV001202743]|not provided [RCV004768908] Chr1:111776085 [GRCh38]
Chr1:112318707 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1502G>A (p.Arg501Gln) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001038365] Chr1:111778452 [GRCh38]
Chr1:112321074 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.448G>A (p.Asp150Asn) single nucleotide variant KCND3-related disorder [RCV004738126]|Spinocerebellar ataxia type 19/22 [RCV001040344] Chr1:111982279 [GRCh38]
Chr1:112524901 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln) single nucleotide variant Cardiovascular phenotype [RCV002411741]|Spinocerebellar ataxia type 19/22 [RCV001203107]|Spinocerebellar ataxia type 19/22 [RCV002504232]|not provided [RCV003148945]|not specified [RCV004768909] Chr1:111776156 [GRCh38]
Chr1:112318778 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.869G>A (p.Arg290Gln) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001253322]|not provided [RCV002462885] Chr1:111981858 [GRCh38]
Chr1:112524480 [GRCh37]
Chr1:1p13.2		 likely pathogenic
NM_001378969.1(KCND3):c.356C>A (p.Ala119Asp) single nucleotide variant not provided [RCV001663482] Chr1:111982371 [GRCh38]
Chr1:112524993 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1124C>T (p.Pro375Leu) single nucleotide variant Inborn genetic diseases [RCV001266978] Chr1:111787089 [GRCh38]
Chr1:112329711 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1600C>A (p.Pro534Thr) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001313233]|Spinocerebellar ataxia type 19/22 [RCV002486221] Chr1:111777192 [GRCh38]
Chr1:112319814 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.910T>C (p.Ser304Pro) single nucleotide variant not provided [RCV001268242] Chr1:111981817 [GRCh38]
Chr1:112524439 [GRCh37]
Chr1:1p13.2		 likely pathogenic
NM_001378969.1(KCND3):c.228C>T (p.Asn76=) single nucleotide variant not specified [RCV001663481] Chr1:111982499 [GRCh38]
Chr1:112525121 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.240G>A (p.Lys80=) single nucleotide variant not provided [RCV001312089] Chr1:111982487 [GRCh38]
Chr1:112525109 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.105C>T (p.Asn35=) single nucleotide variant not provided [RCV001312090] Chr1:111982622 [GRCh38]
Chr1:112525244 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.878G>A (p.Arg293His) single nucleotide variant Cardiovascular phenotype [RCV002377451]|Spinocerebellar ataxia type 19/22 [RCV001342147] Chr1:111981849 [GRCh38]
Chr1:112524471 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1070C>G (p.Ser357Trp) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001300818] Chr1:111981657 [GRCh38]
Chr1:112524279 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1107A>C (p.Gly369=) single nucleotide variant not provided [RCV001312087] Chr1:111787106 [GRCh38]
Chr1:112329728 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser) single nucleotide variant Cardiovascular phenotype [RCV004629532]|Spinocerebellar ataxia type 19/22 [RCV003389334]|not provided [RCV001289013] Chr1:111787063 [GRCh38]
Chr1:112329685 [GRCh37]
Chr1:1p13.2		 pathogenic|likely pathogenic
NM_001378969.1(KCND3):c.429C>T (p.Asn143=) single nucleotide variant not provided [RCV001289018] Chr1:111982298 [GRCh38]
Chr1:112524920 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His) single nucleotide variant Cardiovascular phenotype [RCV002393688]|Spinocerebellar ataxia type 19/22 [RCV001871726]|Spinocerebellar ataxia type 19/22 [RCV002493522]|not provided [RCV001289015] Chr1:111777143 [GRCh38]
Chr1:112319765 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizure [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12		 pathogenic
NM_001378969.1(KCND3):c.1946T>C (p.Val649Ala) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001327715]|Spinocerebellar ataxia type 19/22 [RCV002493711] Chr1:111776099 [GRCh38]
Chr1:112318721 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.321C>A (p.Arg107=) single nucleotide variant Cardiovascular phenotype [RCV002322181]|Spinocerebellar ataxia type 19/22 [RCV002070087]|not provided [RCV001289016] Chr1:111982406 [GRCh38]
Chr1:112525028 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.930G>A (p.Leu310=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001301777] Chr1:111981797 [GRCh38]
Chr1:112524419 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1478T>G (p.Val493Gly) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001345248] Chr1:111778476 [GRCh38]
Chr1:112321098 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.82C>A (p.Pro28Thr) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001317005] Chr1:111982645 [GRCh38]
Chr1:112525267 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.717G>A (p.Val239=) single nucleotide variant not provided [RCV001312088] Chr1:111982010 [GRCh38]
Chr1:112524632 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1864G>T (p.Ala622Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001366954] Chr1:111776181 [GRCh38]
Chr1:112318803 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1634C>T (p.Thr545Ile) single nucleotide variant Cardiovascular phenotype [RCV004037058]|Spinocerebellar ataxia type 19/22 [RCV001368781] Chr1:111777158 [GRCh38]
Chr1:112319780 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1865C>T (p.Ala622Val) single nucleotide variant Cardiovascular phenotype [RCV003298837]|Spinocerebellar ataxia type 19/22 [RCV001478107] Chr1:111776180 [GRCh38]
Chr1:112318802 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1270-6T>C single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001475014] Chr1:111780797 [GRCh38]
Chr1:112323419 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.339C>T (p.Ala113=) single nucleotide variant Cardiovascular phenotype [RCV003298883]|Spinocerebellar ataxia type 19/22 [RCV001495689] Chr1:111982388 [GRCh38]
Chr1:112525010 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.522G>A (p.Glu174=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001443413] Chr1:111982205 [GRCh38]
Chr1:112524827 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.318G>A (p.Pro106=) single nucleotide variant Cardiovascular phenotype [RCV002322410]|Spinocerebellar ataxia type 19/22 [RCV001410054] Chr1:111982409 [GRCh38]
Chr1:112525031 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1173C>T (p.Gly391=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001410791] Chr1:111787040 [GRCh38]
Chr1:112329662 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.837C>T (p.Asn279=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001447584] Chr1:111981890 [GRCh38]
Chr1:112524512 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1146C>A (p.Ile382=) single nucleotide variant Cardiovascular phenotype [RCV003160860]|Spinocerebellar ataxia type 19/22 [RCV001458840] Chr1:111787067 [GRCh38]
Chr1:112329689 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1890G>A (p.Arg630=) single nucleotide variant Cardiovascular phenotype [RCV002414238]|Spinocerebellar ataxia type 19/22 [RCV001516541] Chr1:111776155 [GRCh38]
Chr1:112318777 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1026C>G (p.Ala342=) single nucleotide variant Cardiovascular phenotype [RCV002384723]|Spinocerebellar ataxia type 19/22 [RCV001458831] Chr1:111981701 [GRCh38]
Chr1:112524323 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1065T>A (p.Pro355=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001419862] Chr1:111981662 [GRCh38]
Chr1:112524284 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1063C>T (p.Pro355Ser) single nucleotide variant not provided [RCV003238390] Chr1:111981664 [GRCh38]
Chr1:112524286 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.785T>G (p.Ile262Ser) single nucleotide variant not provided [RCV001768007] Chr1:111981942 [GRCh38]
Chr1:112524564 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1313C>T (p.Ser438Leu) single nucleotide variant not provided [RCV003238389] Chr1:111780748 [GRCh38]
Chr1:112323370 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1069T>C (p.Ser357Pro) single nucleotide variant not provided [RCV001766123] Chr1:111981658 [GRCh38]
Chr1:112524280 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.838G>A (p.Glu280Lys) single nucleotide variant not provided [RCV001766084] Chr1:111981889 [GRCh38]
Chr1:112524511 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.772G>A (p.Val258Ile) single nucleotide variant not provided [RCV001766261] Chr1:111981955 [GRCh38]
Chr1:112524577 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.496C>T (p.Arg166Cys) single nucleotide variant not provided [RCV001757431] Chr1:111982231 [GRCh38]
Chr1:112524853 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1519-4G>A single nucleotide variant not provided [RCV001776926] Chr1:111777277 [GRCh38]
Chr1:112319899 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.110G>A (p.Arg37Gln) single nucleotide variant not provided [RCV001758865] Chr1:111982617 [GRCh38]
Chr1:112525239 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.806C>G (p.Pro269Arg) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001809143] Chr1:111981921 [GRCh38]
Chr1:112524543 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.660G>A (p.Glu220=) single nucleotide variant Cardiovascular phenotype [RCV002370653]|Spinocerebellar ataxia type 19/22 [RCV002025182] Chr1:111982067 [GRCh38]
Chr1:112524689 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1859C>A (p.Pro620His) single nucleotide variant Cardiovascular phenotype [RCV004043166]|Spinocerebellar ataxia type 19/22 [RCV001969736] Chr1:111776186 [GRCh38]
Chr1:112318808 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1535A>C (p.Asp512Ala) single nucleotide variant Cardiovascular phenotype [RCV002397836]|Spinocerebellar ataxia type 19/22 [RCV001890267] Chr1:111777257 [GRCh38]
Chr1:112319879 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931) copy number loss not specified [RCV002053503] Chr1:95046805..114714931 [GRCh37]
Chr1:1p21.3-13.2		 pathogenic
NM_001378969.1(KCND3):c.1885A>T (p.Ser629Cys) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001986123] Chr1:111776160 [GRCh38]
Chr1:112318782 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1525G>A (p.Glu509Lys) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001872237] Chr1:111777267 [GRCh38]
Chr1:112319889 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1772C>G (p.Ser591Cys) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002039779] Chr1:111776273 [GRCh38]
Chr1:112318895 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783) copy number gain not specified [RCV002053602] Chr1:111647582..121343783 [GRCh37]
Chr1:1p13.3-11.2		 pathogenic
NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys) single nucleotide variant Cardiovascular phenotype [RCV002397991]|Spinocerebellar ataxia type 19/22 [RCV001982863]|Spinocerebellar ataxia type 19/22 [RCV002479549] Chr1:111777090 [GRCh38]
Chr1:112319712 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.478A>G (p.Met160Val) single nucleotide variant Cardiovascular phenotype [RCV004040501]|Spinocerebellar ataxia type 19/22 [RCV001871015] Chr1:111982249 [GRCh38]
Chr1:112524871 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1462-10T>G single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001986994] Chr1:111778502 [GRCh38]
Chr1:112321124 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.1291C>T (p.Arg431Cys) single nucleotide variant Cardiovascular phenotype [RCV002386506]|Spinocerebellar ataxia type 19/22 [RCV001849200] Chr1:111780770 [GRCh38]
Chr1:112323392 [GRCh37]
Chr1:1p13.2		 likely pathogenic|uncertain significance
NM_001378969.1(KCND3):c.98A>T (p.Asp33Val) single nucleotide variant Cardiovascular phenotype [RCV002386784]|Spinocerebellar ataxia type 19/22 [RCV001969896] Chr1:111982629 [GRCh38]
Chr1:112525251 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.551T>C (p.Val184Ala) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001945914] Chr1:111982176 [GRCh38]
Chr1:112524798 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1672C>T (p.Pro558Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001970368] Chr1:111777120 [GRCh38]
Chr1:112319742 [GRCh37]
Chr1:1p13.2		 uncertain significance
NC_000001.10:g.(?_112524223)_(112525348_?)dup duplication Spinocerebellar ataxia type 19/22 [RCV001920565] Chr1:112524223..112525348 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.917G>A (p.Gly306Asp) single nucleotide variant Cardiovascular phenotype [RCV004043286]|Spinocerebellar ataxia type 19/22 [RCV002001018] Chr1:111981810 [GRCh38]
Chr1:112524432 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1873C>T (p.Pro625Ser) single nucleotide variant Cardiovascular phenotype [RCV004040676]|Spinocerebellar ataxia type 19/22 [RCV001885659] Chr1:111776172 [GRCh38]
Chr1:112318794 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.739G>A (p.Ala247Thr) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001887142] Chr1:111981988 [GRCh38]
Chr1:112524610 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1648C>T (p.Arg550Cys) single nucleotide variant Cardiovascular phenotype [RCV004043343]|Spinocerebellar ataxia type 19/22 [RCV001922966]|not provided [RCV004762241] Chr1:111777144 [GRCh38]
Chr1:112319766 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1371+5G>T single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002011662] Chr1:111780685 [GRCh38]
Chr1:112323307 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1745A>G (p.Glu582Gly) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001880450] Chr1:111777047 [GRCh38]
Chr1:112319669 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1574T>G (p.Met525Arg) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001954317] Chr1:111777218 [GRCh38]
Chr1:112319840 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.715G>C (p.Val239Leu) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002027009] Chr1:111982012 [GRCh38]
Chr1:112524634 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.436C>T (p.Arg146Trp) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001931429] Chr1:111982291 [GRCh38]
Chr1:112524913 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1861C>G (p.Pro621Ala) single nucleotide variant Cardiovascular phenotype [RCV002407053]|Spinocerebellar ataxia type 19/22 [RCV001918372] Chr1:111776184 [GRCh38]
Chr1:112318806 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1292G>T (p.Arg431Leu) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002047753] Chr1:111780769 [GRCh38]
Chr1:112323391 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1393A>G (p.Met465Val) single nucleotide variant Cardiovascular phenotype [RCV002389029]|Spinocerebellar ataxia type 19/22 [RCV002011718] Chr1:111780293 [GRCh38]
Chr1:112322915 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1017G>A (p.Met339Ile) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001940279] Chr1:111981710 [GRCh38]
Chr1:112524332 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.622G>A (p.Gly208Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002049543] Chr1:111982105 [GRCh38]
Chr1:112524727 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1895C>T (p.Pro632Leu) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV001920263] Chr1:111776150 [GRCh38]
Chr1:112318772 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1418A>T (p.Glu473Val) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002048119] Chr1:111780268 [GRCh38]
Chr1:112322890 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.110G>C (p.Arg37Pro) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002014665] Chr1:111982617 [GRCh38]
Chr1:112525239 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.36C>T (p.Ala12=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002185795] Chr1:111982691 [GRCh38]
Chr1:112525313 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1462-13T>C single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002071793] Chr1:111778505 [GRCh38]
Chr1:112321127 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1362G>A (p.Leu454=) single nucleotide variant Cardiovascular phenotype [RCV002382429]|Spinocerebellar ataxia type 19/22 [RCV002129109] Chr1:111780699 [GRCh38]
Chr1:112323321 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.348C>T (p.Asp116=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002111139] Chr1:111982379 [GRCh38]
Chr1:112525001 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1368G>A (p.Leu456=) single nucleotide variant Cardiovascular phenotype [RCV003161328]|Spinocerebellar ataxia type 19/22 [RCV002089599] Chr1:111780693 [GRCh38]
Chr1:112323315 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1518+18T>C single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002210117] Chr1:111778418 [GRCh38]
Chr1:112321040 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1519-20_1519-18del microsatellite Spinocerebellar ataxia type 19/22 [RCV002207516] Chr1:111777291..111777293 [GRCh38]
Chr1:112319913..112319915 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1752C>A (p.Pro584=) single nucleotide variant Cardiovascular phenotype [RCV002409547]|Spinocerebellar ataxia type 19/22 [RCV002086644]|not provided [RCV003408138] Chr1:111777040 [GRCh38]
Chr1:112319662 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1106+11G>T single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002144770] Chr1:111981610 [GRCh38]
Chr1:112524232 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.92C>T (p.Pro31Leu) single nucleotide variant not provided [RCV002223545] Chr1:111982635 [GRCh38]
Chr1:112525257 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1276C>T (p.Arg426Cys) single nucleotide variant not provided [RCV002224249] Chr1:111780785 [GRCh38]
Chr1:112323407 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.999C>T (p.Ile333=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002071140] Chr1:111981728 [GRCh38]
Chr1:112524350 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1107-47915C>T single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002132247] Chr1:111835021 [GRCh38]
Chr1:112377643 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.324C>T (p.Tyr108=) single nucleotide variant Cardiovascular phenotype [RCV002324561]|KCND3-related disorder [RCV004553699]|Spinocerebellar ataxia type 19/22 [RCV002081118] Chr1:111982403 [GRCh38]
Chr1:112525025 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1173C>A (p.Gly391=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002116914] Chr1:111787040 [GRCh38]
Chr1:112329662 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1269+18G>A single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002192924] Chr1:111786926 [GRCh38]
Chr1:112329548 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.624C>T (p.Gly208=) single nucleotide variant Cardiovascular phenotype [RCV002361420]|Spinocerebellar ataxia type 19/22 [RCV002099573] Chr1:111982103 [GRCh38]
Chr1:112524725 [GRCh37]
Chr1:1p13.2		 benign|likely benign
NM_001378969.1(KCND3):c.1353C>T (p.Asn451=) single nucleotide variant Cardiovascular phenotype [RCV002382271]|Spinocerebellar ataxia type 19/22 [RCV002157266] Chr1:111780708 [GRCh38]
Chr1:112323330 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1799G>C (p.Gly600Ala) single nucleotide variant not provided [RCV002245144] Chr1:111776246 [GRCh38]
Chr1:112318868 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.96C>T (p.Ala32=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002139683] Chr1:111982631 [GRCh38]
Chr1:112525253 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1269+14G>A single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002120984] Chr1:111786930 [GRCh38]
Chr1:112329552 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1492T>C (p.Leu498=) single nucleotide variant Cardiovascular phenotype [RCV002391328]|Spinocerebellar ataxia type 19/22 [RCV002139028]|not provided [RCV002291799] Chr1:111778462 [GRCh38]
Chr1:112321084 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.1381G>A (p.Glu461Lys) single nucleotide variant not specified [RCV002247917] Chr1:111780305 [GRCh38]
Chr1:112322927 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.399C>T (p.Tyr133=) single nucleotide variant Cardiovascular phenotype [RCV002352850]|Spinocerebellar ataxia type 19/22 [RCV002119742]|not specified [RCV003987970] Chr1:111982328 [GRCh38]
Chr1:112524950 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1519-10C>T single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002198687] Chr1:111777283 [GRCh38]
Chr1:112319905 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.969T>C (p.Phe323=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002200006] Chr1:111981758 [GRCh38]
Chr1:112524380 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.600C>T (p.Asn200=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002218120] Chr1:111982127 [GRCh38]
Chr1:112524749 [GRCh37]
Chr1:1p13.2		 likely benign
NC_000001.10:g.(?_111145905)_(114454813_?)del deletion not provided [RCV003113195] Chr1:111145905..114454813 [GRCh37]
Chr1:1p13.3-13.2		 pathogenic
NM_001378969.1(KCND3):c.349G>C (p.Glu117Gln) single nucleotide variant not provided [RCV003123234] Chr1:111982378 [GRCh38]
Chr1:112525000 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.905G>C (p.Arg302Pro) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002273033] Chr1:111981822 [GRCh38]
Chr1:112524444 [GRCh37]
Chr1:1p13.2		 likely pathogenic
NM_001378969.1(KCND3):c.239A>G (p.Lys80Arg) single nucleotide variant Cardiovascular phenotype [RCV003296834] Chr1:111982488 [GRCh38]
Chr1:112525110 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.460G>A (p.Glu154Lys) single nucleotide variant Cardiovascular phenotype [RCV003296837] Chr1:111982267 [GRCh38]
Chr1:112524889 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.911C>T (p.Ser304Phe) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002273254] Chr1:111981816 [GRCh38]
Chr1:112524438 [GRCh37]
Chr1:1p13.2		 likely pathogenic
NM_001378969.1(KCND3):c.741G>A (p.Ala247=) single nucleotide variant Cardiovascular phenotype [RCV002384970] Chr1:111981986 [GRCh38]
Chr1:112524608 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.540G>A (p.Thr180=) single nucleotide variant Cardiovascular phenotype [RCV002349413] Chr1:111982187 [GRCh38]
Chr1:112524809 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1057A>G (p.Ser353Gly) single nucleotide variant not provided [RCV002262240] Chr1:111981670 [GRCh38]
Chr1:112524292 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1255C>T (p.Arg419Cys) single nucleotide variant Cardiovascular phenotype [RCV002419277] Chr1:111786958 [GRCh38]
Chr1:112329580 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.387G>T (p.Gly129=) single nucleotide variant Cardiovascular phenotype [RCV002366306] Chr1:111982340 [GRCh38]
Chr1:112524962 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1559G>A (p.Cys520Tyr) single nucleotide variant not specified [RCV002282874] Chr1:111777233 [GRCh38]
Chr1:112319855 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.740C>T (p.Ala247Val) single nucleotide variant not provided [RCV002291916] Chr1:111981987 [GRCh38]
Chr1:112524609 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.372C>G (p.Leu124=) single nucleotide variant Cardiovascular phenotype [RCV002349158] Chr1:111982355 [GRCh38]
Chr1:112524977 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1376C>A (p.Thr459Asn) single nucleotide variant Cardiovascular phenotype [RCV002383819] Chr1:111780310 [GRCh38]
Chr1:112322932 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.363C>T (p.Tyr121=) single nucleotide variant Cardiovascular phenotype [RCV002452410] Chr1:111982364 [GRCh38]
Chr1:112524986 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.375G>C (p.Pro125=) single nucleotide variant Cardiovascular phenotype [RCV002349361] Chr1:111982352 [GRCh38]
Chr1:112524974 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.369C>T (p.Ile123=) single nucleotide variant Cardiovascular phenotype [RCV002348873] Chr1:111982358 [GRCh38]
Chr1:112524980 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.300G>A (p.Thr100=) single nucleotide variant Cardiovascular phenotype [RCV002435761] Chr1:111982427 [GRCh38]
Chr1:112525049 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.714C>G (p.Thr238=) single nucleotide variant Cardiovascular phenotype [RCV002367522] Chr1:111982013 [GRCh38]
Chr1:112524635 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.552C>G (p.Val184=) single nucleotide variant Cardiovascular phenotype [RCV002351810] Chr1:111982175 [GRCh38]
Chr1:112524797 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.367A>G (p.Ile123Val) single nucleotide variant Cardiovascular phenotype [RCV002452702] Chr1:111982360 [GRCh38]
Chr1:112524982 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.547C>T (p.Leu183=) single nucleotide variant Cardiovascular phenotype [RCV002349835] Chr1:111982180 [GRCh38]
Chr1:112524802 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.300G>T (p.Thr100=) single nucleotide variant Cardiovascular phenotype [RCV002435768] Chr1:111982427 [GRCh38]
Chr1:112525049 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.501G>A (p.Gln167=) single nucleotide variant Cardiovascular phenotype [RCV002351393] Chr1:111982226 [GRCh38]
Chr1:112524848 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.669G>A (p.Ser223=) single nucleotide variant Cardiovascular phenotype [RCV002367116] Chr1:111982058 [GRCh38]
Chr1:112524680 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1110C>T (p.Tyr370=) single nucleotide variant Cardiovascular phenotype [RCV002437429]|not specified [RCV004700758] Chr1:111787103 [GRCh38]
Chr1:112329725 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.816C>T (p.Ile272=) single nucleotide variant Cardiovascular phenotype [RCV002421466] Chr1:111981911 [GRCh38]
Chr1:112524533 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.357C>T (p.Ala119=) single nucleotide variant Cardiovascular phenotype [RCV002455073] Chr1:111982370 [GRCh38]
Chr1:112524992 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.491G>A (p.Ser164Asn) single nucleotide variant Cardiovascular phenotype [RCV002351257] Chr1:111982236 [GRCh38]
Chr1:112524858 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1866G>A (p.Ala622=) single nucleotide variant Cardiovascular phenotype [RCV002415001]|Spinocerebellar ataxia type 19/22 [RCV003641042] Chr1:111776179 [GRCh38]
Chr1:112318801 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.459G>C (p.Ser153=) single nucleotide variant Cardiovascular phenotype [RCV002342341] Chr1:111982268 [GRCh38]
Chr1:112524890 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1270-20dup duplication Spinocerebellar ataxia type 19/22 [RCV002858544] Chr1:111780810..111780811 [GRCh38]
Chr1:112323432..112323433 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1588T>A (p.Ser530Thr) single nucleotide variant not provided [RCV002474312] Chr1:111777204 [GRCh38]
Chr1:112319826 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1109A>G (p.Tyr370Cys) single nucleotide variant not provided [RCV002474313] Chr1:111787104 [GRCh38]
Chr1:112329726 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.558C>T (p.Tyr186=) single nucleotide variant Cardiovascular phenotype [RCV002344800] Chr1:111982169 [GRCh38]
Chr1:112524791 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1138G>T (p.Gly380Trp) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003147966] Chr1:111787075 [GRCh38]
Chr1:112329697 [GRCh37]
Chr1:1p13.2		 likely pathogenic
NM_001378969.1(KCND3):c.561C>T (p.Tyr187=) single nucleotide variant Cardiovascular phenotype [RCV002344998]|Spinocerebellar ataxia type 19/22 [RCV003526152] Chr1:111982166 [GRCh38]
Chr1:112524788 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1345C>T (p.Leu449Phe) single nucleotide variant Cardiovascular phenotype [RCV002387805]|Spinocerebellar ataxia type 19/22 [RCV003095006] Chr1:111780716 [GRCh38]
Chr1:112323338 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1543A>G (p.Met515Val) single nucleotide variant Cardiovascular phenotype [RCV002403212] Chr1:111777249 [GRCh38]
Chr1:112319871 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.657G>C (p.Gly219=) single nucleotide variant Cardiovascular phenotype [RCV002364500] Chr1:111982070 [GRCh38]
Chr1:112524692 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1758C>T (p.Leu586=) single nucleotide variant Cardiovascular phenotype [RCV002401625] Chr1:111777034 [GRCh38]
Chr1:112319656 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.864G>A (p.Thr288=) single nucleotide variant Cardiovascular phenotype [RCV002371221] Chr1:111981863 [GRCh38]
Chr1:112524485 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.166A>G (p.Thr56Ala) single nucleotide variant Cardiovascular phenotype [RCV002403965] Chr1:111982561 [GRCh38]
Chr1:112525183 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1305A>T (p.Thr435=) single nucleotide variant Cardiovascular phenotype [RCV002380930]|Spinocerebellar ataxia type 19/22 [RCV003094945] Chr1:111780756 [GRCh38]
Chr1:112323378 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1417G>A (p.Glu473Lys) single nucleotide variant Cardiovascular phenotype [RCV002391725] Chr1:111780269 [GRCh38]
Chr1:112322891 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1536T>C (p.Asp512=) single nucleotide variant Cardiovascular phenotype [RCV002403052]|Spinocerebellar ataxia type 19/22 [RCV003526179] Chr1:111777256 [GRCh38]
Chr1:112319878 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1736A>C (p.Gln579Pro) single nucleotide variant Cardiovascular phenotype [RCV002407452] Chr1:111777056 [GRCh38]
Chr1:112319678 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1479G>T (p.Val493=) single nucleotide variant Cardiovascular phenotype [RCV002397087] Chr1:111778475 [GRCh38]
Chr1:112321097 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.375G>T (p.Pro125=) single nucleotide variant Cardiovascular phenotype [RCV002363841] Chr1:111982352 [GRCh38]
Chr1:112524974 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.693G>A (p.Thr231=) single nucleotide variant Cardiovascular phenotype [RCV002378137]|Spinocerebellar ataxia type 19/22 [RCV003098424] Chr1:111982034 [GRCh38]
Chr1:112524656 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1378C>G (p.Pro460Ala) single nucleotide variant Cardiovascular phenotype [RCV002381091] Chr1:111780308 [GRCh38]
Chr1:112322930 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1677T>A (p.Asn559Lys) single nucleotide variant Cardiovascular phenotype [RCV002405966] Chr1:111777115 [GRCh38]
Chr1:112319737 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1071G>A (p.Ser357=) single nucleotide variant Cardiovascular phenotype [RCV002423495] Chr1:111981656 [GRCh38]
Chr1:112524278 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1740C>A (p.Gly580=) single nucleotide variant Cardiovascular phenotype [RCV002401392]|Spinocerebellar ataxia type 19/22 [RCV003774483] Chr1:111777052 [GRCh38]
Chr1:112319674 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.306G>A (p.Lys102=) single nucleotide variant Cardiovascular phenotype [RCV002444323] Chr1:111982421 [GRCh38]
Chr1:112525043 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1749G>C (p.Gln583His) single nucleotide variant Cardiovascular phenotype [RCV002401541] Chr1:111777043 [GRCh38]
Chr1:112319665 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.9C>A (p.Ala3=) single nucleotide variant Cardiovascular phenotype [RCV002383127] Chr1:111982718 [GRCh38]
Chr1:112525340 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1435C>A (p.Leu479Met) single nucleotide variant Cardiovascular phenotype [RCV002392161] Chr1:111780251 [GRCh38]
Chr1:112322873 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.388G>A (p.Asp130Asn) single nucleotide variant Cardiovascular phenotype [RCV002357393] Chr1:111982339 [GRCh38]
Chr1:112524961 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.696G>C (p.Ala232=) single nucleotide variant Cardiovascular phenotype [RCV002362522] Chr1:111982031 [GRCh38]
Chr1:112524653 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1622G>A (p.Gly541Asp) single nucleotide variant Cardiovascular phenotype [RCV002401090] Chr1:111777170 [GRCh38]
Chr1:112319792 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.384C>A (p.Ile128=) single nucleotide variant Cardiovascular phenotype [RCV002355468] Chr1:111982343 [GRCh38]
Chr1:112524965 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1725G>A (p.Thr575=) single nucleotide variant Cardiovascular phenotype [RCV002399114]|Spinocerebellar ataxia type 19/22 [RCV003097179] Chr1:111777067 [GRCh38]
Chr1:112319689 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1366C>T (p.Leu456=) single nucleotide variant Cardiovascular phenotype [RCV002383587] Chr1:111780695 [GRCh38]
Chr1:112323317 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1501C>T (p.Arg501Ter) single nucleotide variant Cardiovascular phenotype [RCV002389944] Chr1:111778453 [GRCh38]
Chr1:112321075 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1505C>G (p.Thr502Ser) single nucleotide variant Cardiovascular phenotype [RCV002389991] Chr1:111778449 [GRCh38]
Chr1:112321071 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1641C>T (p.Cys547=) single nucleotide variant Cardiovascular phenotype [RCV002394931]|Spinocerebellar ataxia type 19/22 [RCV003097045] Chr1:111777151 [GRCh38]
Chr1:112319773 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1222C>T (p.Arg408Trp) single nucleotide variant Cardiovascular phenotype [RCV002361654] Chr1:111786991 [GRCh38]
Chr1:112329613 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.252C>T (p.Phe84=) single nucleotide variant Cardiovascular phenotype [RCV002433125] Chr1:111982475 [GRCh38]
Chr1:112525097 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.681C>T (p.Phe227=) single nucleotide variant Cardiovascular phenotype [RCV002369577] Chr1:111982046 [GRCh38]
Chr1:112524668 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.295C>T (p.Arg99Cys) single nucleotide variant Cardiovascular phenotype [RCV002441966] Chr1:111982432 [GRCh38]
Chr1:112525054 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.210G>A (p.Glu70=) single nucleotide variant Cardiovascular phenotype [RCV002424382] Chr1:111982517 [GRCh38]
Chr1:112525139 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys) single nucleotide variant Cardiovascular phenotype [RCV002406227]|Spinocerebellar ataxia type 19/22 [RCV003100793]|not provided [RCV003482410] Chr1:111777096 [GRCh38]
Chr1:112319718 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.336T>C (p.Ser112=) single nucleotide variant Cardiovascular phenotype [RCV002451732] Chr1:111982391 [GRCh38]
Chr1:112525013 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1888C>T (p.Arg630Trp) single nucleotide variant Cardiovascular phenotype [RCV002407966]|not provided [RCV002473380] Chr1:111776157 [GRCh38]
Chr1:112318779 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.303G>C (p.Gly101=) single nucleotide variant Cardiovascular phenotype [RCV002443993] Chr1:111982424 [GRCh38]
Chr1:112525046 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.279C>T (p.Cys93=) single nucleotide variant Cardiovascular phenotype [RCV002441504] Chr1:111982448 [GRCh38]
Chr1:112525070 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.345C>T (p.Asp115=) single nucleotide variant Cardiovascular phenotype [RCV002337471] Chr1:111982382 [GRCh38]
Chr1:112525004 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.504C>A (p.Thr168=) single nucleotide variant Cardiovascular phenotype [RCV002335709] Chr1:111982223 [GRCh38]
Chr1:112524845 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1372-4C>T single nucleotide variant Cardiovascular phenotype [RCV002383724]|Spinocerebellar ataxia type 19/22 [RCV003095048] Chr1:111780318 [GRCh38]
Chr1:112322940 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.648G>T (p.Leu216=) single nucleotide variant Cardiovascular phenotype [RCV002356245] Chr1:111982079 [GRCh38]
Chr1:112524701 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1223G>A (p.Arg408Gln) single nucleotide variant Cardiovascular phenotype [RCV002361910]|not provided [RCV003313275] Chr1:111786990 [GRCh38]
Chr1:112329612 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1920G>A (p.Thr640=) single nucleotide variant Cardiovascular phenotype [RCV002410705]|Spinocerebellar ataxia type 19/22 [RCV003097356]|not provided [RCV002473381] Chr1:111776125 [GRCh38]
Chr1:112318747 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.618G>C (p.Pro206=) single nucleotide variant Cardiovascular phenotype [RCV002353816] Chr1:111982109 [GRCh38]
Chr1:112524731 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1683C>T (p.Asn561=) single nucleotide variant Cardiovascular phenotype [RCV002406064]|Spinocerebellar ataxia type 19/22 [RCV003097111] Chr1:111777109 [GRCh38]
Chr1:112319731 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.930G>T (p.Leu310=) single nucleotide variant Cardiovascular phenotype [RCV002371575] Chr1:111981797 [GRCh38]
Chr1:112524419 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.646C>A (p.Leu216Met) single nucleotide variant Cardiovascular phenotype [RCV002361941] Chr1:111982081 [GRCh38]
Chr1:112524703 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1897C>A (p.Pro633Thr) single nucleotide variant Cardiovascular phenotype [RCV002408133] Chr1:111776148 [GRCh38]
Chr1:112318770 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.539C>T (p.Thr180Met) single nucleotide variant Cardiovascular phenotype [RCV002347230] Chr1:111982188 [GRCh38]
Chr1:112524810 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.18G>A (p.Ala6=) single nucleotide variant Cardiovascular phenotype [RCV002408232]|KCND3-related disorder [RCV004548294]|Spinocerebellar ataxia type 19/22 [RCV003526189] Chr1:111982709 [GRCh38]
Chr1:112525331 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.520G>A (p.Glu174Lys) single nucleotide variant Cardiovascular phenotype [RCV002344262] Chr1:111982207 [GRCh38]
Chr1:112524829 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1615C>A (p.His539Asn) single nucleotide variant Cardiovascular phenotype [RCV002400962] Chr1:111777177 [GRCh38]
Chr1:112319799 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1506C>A (p.Thr502=) single nucleotide variant Cardiovascular phenotype [RCV002390001] Chr1:111778448 [GRCh38]
Chr1:112321070 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.453C>T (p.Asn151=) single nucleotide variant Cardiovascular phenotype [RCV002340088] Chr1:111982274 [GRCh38]
Chr1:112524896 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1797C>T (p.Asp599=) single nucleotide variant Cardiovascular phenotype [RCV002407807] Chr1:111776248 [GRCh38]
Chr1:112318870 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1895C>G (p.Pro632Arg) single nucleotide variant Cardiovascular phenotype [RCV002408091] Chr1:111776150 [GRCh38]
Chr1:112318772 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1919C>T (p.Thr640Met) single nucleotide variant Cardiovascular phenotype [RCV002410650]|Spinocerebellar ataxia type 19/22 [RCV003526190]|not provided [RCV004763408] Chr1:111776126 [GRCh38]
Chr1:112318748 [GRCh37]
Chr1:1p13.2		 likely benign|uncertain significance
NM_001378969.1(KCND3):c.981C>G (p.Ser327=) single nucleotide variant Cardiovascular phenotype [RCV002376829] Chr1:111981746 [GRCh38]
Chr1:112524368 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.159C>G (p.Thr53=) single nucleotide variant Cardiovascular phenotype [RCV002398597] Chr1:111982568 [GRCh38]
Chr1:112525190 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1560C>T (p.Cys520=) single nucleotide variant Cardiovascular phenotype [RCV002405406]|Spinocerebellar ataxia type 19/22 [RCV003096937] Chr1:111777232 [GRCh38]
Chr1:112319854 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1561A>G (p.Met521Val) single nucleotide variant Cardiovascular phenotype [RCV002405422] Chr1:111777231 [GRCh38]
Chr1:112319853 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.411G>A (p.Lys137=) single nucleotide variant Cardiovascular phenotype [RCV002323483] Chr1:111982316 [GRCh38]
Chr1:112524938 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.612G>C (p.Thr204=) single nucleotide variant Cardiovascular phenotype [RCV002360335]|KCND3-related disorder [RCV004725249] Chr1:111982115 [GRCh38]
Chr1:112524737 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.647T>G (p.Leu216Arg) single nucleotide variant Cardiovascular phenotype [RCV002356205]|not provided [RCV003164538] Chr1:111982080 [GRCh38]
Chr1:112524702 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.579C>T (p.Ile193=) single nucleotide variant Cardiovascular phenotype [RCV002359807] Chr1:111982148 [GRCh38]
Chr1:112524770 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1660A>T (p.Thr554Ser) single nucleotide variant Cardiovascular phenotype [RCV002395093] Chr1:111777132 [GRCh38]
Chr1:112319754 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1536T>G (p.Asp512Glu) single nucleotide variant Cardiovascular phenotype [RCV002403054] Chr1:111777256 [GRCh38]
Chr1:112319878 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.93G>A (p.Pro31=) single nucleotide variant Cardiovascular phenotype [RCV002373918] Chr1:111982634 [GRCh38]
Chr1:112525256 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.497G>A (p.Arg166His) single nucleotide variant Cardiovascular phenotype [RCV002342895] Chr1:111982230 [GRCh38]
Chr1:112524852 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1854C>A (p.Pro618=) single nucleotide variant Cardiovascular phenotype [RCV002413068] Chr1:111776191 [GRCh38]
Chr1:112318813 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1942A>G (p.Asn648Asp) single nucleotide variant Cardiovascular phenotype [RCV002413197] Chr1:111776103 [GRCh38]
Chr1:112318725 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.582T>C (p.Ala194=) single nucleotide variant Cardiovascular phenotype [RCV002353231] Chr1:111982145 [GRCh38]
Chr1:112524767 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.654C>T (p.Cys218=) single nucleotide variant Cardiovascular phenotype [RCV002364350] Chr1:111982073 [GRCh38]
Chr1:112524695 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1062C>T (p.Ile354=) single nucleotide variant Cardiovascular phenotype [RCV002410227]|Spinocerebellar ataxia type 19/22 [RCV003108091] Chr1:111981665 [GRCh38]
Chr1:112524287 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.430G>C (p.Ala144Pro) single nucleotide variant Cardiovascular phenotype [RCV002331961] Chr1:111982297 [GRCh38]
Chr1:112524919 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.588G>A (p.Ser196=) single nucleotide variant Cardiovascular phenotype [RCV002353574] Chr1:111982139 [GRCh38]
Chr1:112524761 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.566C>G (p.Thr189Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002815986] Chr1:111982161 [GRCh38]
Chr1:112524783 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1372-6T>G single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003017178] Chr1:111780320 [GRCh38]
Chr1:112322942 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1692T>G (p.Ala564=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002842589] Chr1:111777100 [GRCh38]
Chr1:112319722 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1795G>A (p.Asp599Asn) single nucleotide variant Cardiovascular phenotype [RCV004205439] Chr1:111776250 [GRCh38]
Chr1:112318872 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1050G>A (p.Lys350=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002617665] Chr1:111981677 [GRCh38]
Chr1:112524299 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1461+9C>T single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002760993] Chr1:111780216 [GRCh38]
Chr1:112322838 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1514T>A (p.Ile505Asn) single nucleotide variant Cardiovascular phenotype [RCV004110108] Chr1:111778440 [GRCh38]
Chr1:112321062 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1384G>A (p.Glu462Lys) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002761010] Chr1:111780302 [GRCh38]
Chr1:112322924 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1587A>G (p.Pro529=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002913540] Chr1:111777205 [GRCh38]
Chr1:112319827 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1329C>T (p.His443=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003077776] Chr1:111780732 [GRCh38]
Chr1:112323354 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.87G>A (p.Leu29=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003035890] Chr1:111982640 [GRCh38]
Chr1:112525262 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1106+15G>A single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002761611] Chr1:111981606 [GRCh38]
Chr1:112524228 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1767-17A>C single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003081932] Chr1:111776295 [GRCh38]
Chr1:112318917 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1194A>G (p.Pro398=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003083755] Chr1:111787019 [GRCh38]
Chr1:112329641 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1462-16G>T single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002575009] Chr1:111778508 [GRCh38]
Chr1:112321130 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1106+11G>A single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002890323] Chr1:111981610 [GRCh38]
Chr1:112524232 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.509G>T (p.Trp170Leu) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002917693] Chr1:111982218 [GRCh38]
Chr1:112524840 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1950C>A (p.Val650=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002876125] Chr1:111776095 [GRCh38]
Chr1:112318717 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1519-17_1519-15del deletion Spinocerebellar ataxia type 19/22 [RCV002629972] Chr1:111777288..111777290 [GRCh38]
Chr1:112319910..112319912 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1292G>C (p.Arg431Pro) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003091840] Chr1:111780769 [GRCh38]
Chr1:112323391 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.84C>T (p.Pro28=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002651544] Chr1:111982643 [GRCh38]
Chr1:112525265 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1352A>G (p.Asn451Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003045564] Chr1:111780709 [GRCh38]
Chr1:112323331 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1462-4G>A single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003045582] Chr1:111778496 [GRCh38]
Chr1:112321118 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1434C>T (p.His478=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002900465] Chr1:111780252 [GRCh38]
Chr1:112322874 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1767-4C>G single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003061169] Chr1:111776282 [GRCh38]
Chr1:112318904 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1197C>T (p.Val399=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003089259] Chr1:111787016 [GRCh38]
Chr1:112329638 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1715A>T (p.Glu572Val) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003047240] Chr1:111777077 [GRCh38]
Chr1:112319699 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1518+12del deletion Spinocerebellar ataxia type 19/22 [RCV002653656] Chr1:111778424 [GRCh38]
Chr1:112321046 [GRCh37]
Chr1:1p13.2		 benign
NM_001378969.1(KCND3):c.1351A>C (p.Asn451His) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002607536] Chr1:111780710 [GRCh38]
Chr1:112323332 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1371+4G>C single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002654739] Chr1:111780686 [GRCh38]
Chr1:112323308 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.399C>G (p.Tyr133Ter) single nucleotide variant not provided [RCV003218882] Chr1:111982328 [GRCh38]
Chr1:112524950 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1299C>G (p.Ala433=) single nucleotide variant Cardiovascular phenotype [RCV003176664] Chr1:111780762 [GRCh38]
Chr1:112323384 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.448G>T (p.Asp150Tyr) single nucleotide variant not provided [RCV003221604] Chr1:111982279 [GRCh38]
Chr1:112524901 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1485_1503del (p.Asp495fs) deletion Cardiovascular phenotype [RCV003168058] Chr1:111778451..111778469 [GRCh38]
Chr1:112321073..112321091 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.506T>C (p.Met169Thr) single nucleotide variant Cardiovascular phenotype [RCV003168059] Chr1:111982221 [GRCh38]
Chr1:112524843 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.780C>T (p.Ser260=) single nucleotide variant Cardiovascular phenotype [RCV003168060] Chr1:111981947 [GRCh38]
Chr1:112524569 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.59T>A (p.Met20Lys) single nucleotide variant Cardiovascular phenotype [RCV003168061] Chr1:111982668 [GRCh38]
Chr1:112525290 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1733T>C (p.Ile578Thr) single nucleotide variant Cardiovascular phenotype [RCV003168062] Chr1:111777059 [GRCh38]
Chr1:112319681 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1442A>G (p.His481Arg) single nucleotide variant Cardiovascular phenotype [RCV003168063] Chr1:111780244 [GRCh38]
Chr1:112322866 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.630C>A (p.Val210=) single nucleotide variant Cardiovascular phenotype [RCV003168064] Chr1:111982097 [GRCh38]
Chr1:112524719 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1674C>A (p.Pro558=) single nucleotide variant Cardiovascular phenotype [RCV003168065] Chr1:111777118 [GRCh38]
Chr1:112319740 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1564G>A (p.Glu522Lys) single nucleotide variant Cardiovascular phenotype [RCV003305415]|Spinocerebellar ataxia type 19/22 [RCV003525384] Chr1:111777228 [GRCh38]
Chr1:112319850 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1107-5C>A single nucleotide variant Cardiovascular phenotype [RCV003379952] Chr1:111787111 [GRCh38]
Chr1:112329733 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.533C>T (p.Thr178Ile) single nucleotide variant Cardiovascular phenotype [RCV003379953]|not provided [RCV004765812] Chr1:111982194 [GRCh38]
Chr1:112524816 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.385G>A (p.Gly129Arg) single nucleotide variant Cardiovascular phenotype [RCV003379950] Chr1:111982342 [GRCh38]
Chr1:112524964 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1762A>G (p.Thr588Ala) single nucleotide variant Cardiovascular phenotype [RCV003379951] Chr1:111777030 [GRCh38]
Chr1:112319652 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1125T>C (p.Pro375=) single nucleotide variant Cardiovascular phenotype [RCV003379954] Chr1:111787088 [GRCh38]
Chr1:112329710 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1856C>T (p.Thr619Ile) single nucleotide variant Brugada syndrome 9 [RCV003458260]|Spinocerebellar ataxia type 19/22 [RCV003455827] Chr1:111776189 [GRCh38]
Chr1:112318811 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1094T>C (p.Met365Thr) single nucleotide variant not provided [RCV003482742] Chr1:111981633 [GRCh38]
Chr1:112524255 [GRCh37]
Chr1:1p13.2		 likely pathogenic
NM_001378969.1(KCND3):c.980C>T (p.Ser327Phe) single nucleotide variant not provided [RCV003482743] Chr1:111981747 [GRCh38]
Chr1:112524369 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1518+17A>C single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003872619] Chr1:111778419 [GRCh38]
Chr1:112321041 [GRCh37]
Chr1:1p13.2		 likely benign
GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1 copy number loss not provided [RCV003483294] Chr1:110066946..116672408 [GRCh37]
Chr1:1p13.3-13.1		 pathogenic
NM_001378969.1(KCND3):c.165G>T (p.Arg55Ser) single nucleotide variant not provided [RCV003487950] Chr1:111982562 [GRCh38]
Chr1:112525184 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.848C>G (p.Ser283Cys) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003388423] Chr1:111981879 [GRCh38]
Chr1:112524501 [GRCh37]
Chr1:1p13.2		 likely pathogenic
NM_001378969.1(KCND3):c.877_885dup (p.Arg296_Ile297insValPheArg) duplication Spinocerebellar ataxia type 19/22 [RCV003389358]|not provided [RCV004765816] Chr1:111981841..111981842 [GRCh38]
Chr1:112524463..112524464 [GRCh37]
Chr1:1p13.2		 pathogenic|likely pathogenic
NM_001378969.1(KCND3):c.431C>T (p.Ala144Val) single nucleotide variant not provided [RCV003443690] Chr1:111982296 [GRCh38]
Chr1:112524918 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1107-21_1107-20del deletion Spinocerebellar ataxia type 19/22 [RCV003527406] Chr1:111787126..111787127 [GRCh38]
Chr1:112329748..112329749 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1701G>A (p.Leu567=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003527316] Chr1:111777091 [GRCh38]
Chr1:112319713 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1158C>T (p.Ile386=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003525835] Chr1:111787055 [GRCh38]
Chr1:112329677 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1098C>A (p.Thr366=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003526706] Chr1:111981629 [GRCh38]
Chr1:112524251 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1371+19T>G single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003525507] Chr1:111780671 [GRCh38]
Chr1:112323293 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1544T>C (p.Met515Thr) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003525615] Chr1:111777248 [GRCh38]
Chr1:112319870 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1053C>T (p.Phe351=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003527049] Chr1:111981674 [GRCh38]
Chr1:112524296 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1131G>A (p.Thr377=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003527133] Chr1:111787082 [GRCh38]
Chr1:112329704 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1369A>G (p.Thr457Ala) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003527432]|not provided [RCV004765898] Chr1:111780692 [GRCh38]
Chr1:112323314 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1829T>C (p.Ile610Thr) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003527483] Chr1:111776216 [GRCh38]
Chr1:112318838 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1372-17T>C single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003526303] Chr1:111780331 [GRCh38]
Chr1:112322953 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1406C>T (p.Thr469Ile) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003525433] Chr1:111780280 [GRCh38]
Chr1:112322902 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1040C>T (p.Ser347Leu) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003851023] Chr1:111981687 [GRCh38]
Chr1:112524309 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1413C>A (p.Leu471=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003640795] Chr1:111780273 [GRCh38]
Chr1:112322895 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.685C>G (p.Leu229Val) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641426] Chr1:111982042 [GRCh38]
Chr1:112524664 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1324C>T (p.Leu442=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641866] Chr1:111780737 [GRCh38]
Chr1:112323359 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1461+7C>A single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641143] Chr1:111780218 [GRCh38]
Chr1:112322840 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1803G>A (p.Leu601=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641961] Chr1:111776242 [GRCh38]
Chr1:112318864 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.739G>T (p.Ala247Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003642238] Chr1:111981988 [GRCh38]
Chr1:112524610 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.668C>T (p.Ser223Leu) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003642257] Chr1:111982059 [GRCh38]
Chr1:112524681 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.186G>C (p.Pro62=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003640815] Chr1:111982541 [GRCh38]
Chr1:112525163 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1372G>A (p.Gly458Ser) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003640860] Chr1:111780314 [GRCh38]
Chr1:112322936 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1743T>C (p.Ser581=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641178] Chr1:111777049 [GRCh38]
Chr1:112319671 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.486G>A (p.Ser162=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641987] Chr1:111982241 [GRCh38]
Chr1:112524863 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.159C>T (p.Thr53=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003642239] Chr1:111982568 [GRCh38]
Chr1:112525190 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1441C>A (p.His481Asn) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641133] Chr1:111780245 [GRCh38]
Chr1:112322867 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1865C>A (p.Ala622Glu) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641797] Chr1:111776180 [GRCh38]
Chr1:112318802 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.714C>A (p.Thr238=) single nucleotide variant Cardiovascular phenotype [RCV004371549]|Spinocerebellar ataxia type 19/22 [RCV003641221] Chr1:111982013 [GRCh38]
Chr1:112524635 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.218T>A (p.Phe73Tyr) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641259] Chr1:111982509 [GRCh38]
Chr1:112525131 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.520G>C (p.Glu174Gln) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003822525] Chr1:111982207 [GRCh38]
Chr1:112524829 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.663C>T (p.Arg221=) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003641573] Chr1:111982064 [GRCh38]
Chr1:112524686 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1756C>T (p.Leu586Phe) single nucleotide variant Cardiovascular phenotype [RCV004519271] Chr1:111777036 [GRCh38]
Chr1:112319658 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1686G>C (p.Leu562=) single nucleotide variant Cardiovascular phenotype [RCV004519269] Chr1:111777106 [GRCh38]
Chr1:112319728 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.235A>G (p.Thr79Ala) single nucleotide variant Cardiovascular phenotype [RCV004519272] Chr1:111982492 [GRCh38]
Chr1:112525114 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1539G>A (p.Glu513=) single nucleotide variant Cardiovascular phenotype [RCV004519266] Chr1:111777253 [GRCh38]
Chr1:112319875 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1101A>G (p.Thr367=) single nucleotide variant Cardiovascular phenotype [RCV004519261] Chr1:111981626 [GRCh38]
Chr1:112524248 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.433G>C (p.Glu145Gln) single nucleotide variant Cardiovascular phenotype [RCV004519273] Chr1:111982294 [GRCh38]
Chr1:112524916 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1568G>A (p.Ser523Asn) single nucleotide variant Cardiovascular phenotype [RCV004519267] Chr1:111777224 [GRCh38]
Chr1:112319846 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.43G>A (p.Ala15Thr) single nucleotide variant not provided [RCV004547087] Chr1:111982684 [GRCh38]
Chr1:112525306 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1703G>C (p.Arg568Pro) single nucleotide variant Cardiovascular phenotype [RCV004519270] Chr1:111777089 [GRCh38]
Chr1:112319711 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1389G>A (p.Glu463=) single nucleotide variant KCND3-related disorder [RCV004554381] Chr1:111780297 [GRCh38]
Chr1:112322919 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.17C>T (p.Ala6Val) single nucleotide variant not provided [RCV004592247] Chr1:111982710 [GRCh38]
Chr1:112525332 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.320G>A (p.Arg107His) single nucleotide variant Cardiovascular phenotype [RCV004636069] Chr1:111982407 [GRCh38]
Chr1:112525029 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1372-6T>C single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV000640969] Chr1:111780320 [GRCh38]
Chr1:112322942 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1387G>A (p.Glu463Lys) single nucleotide variant Cardiovascular phenotype [RCV004033124]|Spinocerebellar ataxia type 19/22 [RCV001231433]|not provided [RCV002473233] Chr1:111780299 [GRCh38]
Chr1:112322921 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1586C>T (p.Pro529Leu) single nucleotide variant not provided [RCV003237139] Chr1:111777206 [GRCh38]
Chr1:112319828 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.407A>G (p.Tyr136Cys) single nucleotide variant not provided [RCV001289017] Chr1:111982320 [GRCh38]
Chr1:112524942 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.*257dup duplication not provided [RCV001581405] Chr1:111775819..111775820 [GRCh38]
Chr1:112318441..112318442 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.983T>G (p.Leu328Arg) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002272493]|not provided [RCV001755248] Chr1:111981744 [GRCh38]
Chr1:112524366 [GRCh37]
Chr1:1p13.2		 likely pathogenic|uncertain significance
NM_001378969.1(KCND3):c.1060A>G (p.Ile354Val) single nucleotide variant not provided [RCV001726766] Chr1:111981667 [GRCh38]
Chr1:112524289 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1050G>T (p.Lys350Asn) single nucleotide variant not provided [RCV001726767] Chr1:111981677 [GRCh38]
Chr1:112524299 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.477C>A (p.Ser159=) single nucleotide variant not provided [RCV001755457] Chr1:111982250 [GRCh38]
Chr1:112524872 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1102C>A (p.Leu368Met) single nucleotide variant not provided [RCV001726765] Chr1:111981625 [GRCh38]
Chr1:112524247 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.868C>T (p.Arg290Trp) single nucleotide variant KCND3-related disorder [RCV001825224] Chr1:111981859 [GRCh38]
Chr1:112524481 [GRCh37]
Chr1:1p13.2		 not provided
NC_000001.10:g.(?_112318699)_(115576848_?)del deletion Hereditary spastic paraplegia 47 [RCV003109541] Chr1:112318699..115576848 [GRCh37]
Chr1:1p13.2		 pathogenic
NM_001378969.1(KCND3):c.1754C>T (p.Ser585Phe) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV002828728] Chr1:111777038 [GRCh38]
Chr1:112319660 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1372-14T>C single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003007430] Chr1:111780328 [GRCh38]
Chr1:112322950 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.170C>T (p.Thr57Met) single nucleotide variant Cardiovascular phenotype [RCV003176659] Chr1:111982557 [GRCh38]
Chr1:112525179 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.918C>G (p.Gly306=) single nucleotide variant Cardiovascular phenotype [RCV003176661] Chr1:111981809 [GRCh38]
Chr1:112524431 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1673C>G (p.Pro558Arg) single nucleotide variant Cardiovascular phenotype [RCV003176662] Chr1:111777119 [GRCh38]
Chr1:112319741 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.178C>T (p.Arg60Cys) single nucleotide variant Cardiovascular phenotype [RCV003176663] Chr1:111982549 [GRCh38]
Chr1:112525171 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1129A>G (p.Thr377Ala) single nucleotide variant Spinocerebellar ataxia type 19/22 [RCV003333268] Chr1:111787084 [GRCh38]
Chr1:112329706 [GRCh37]
Chr1:1p13.2		 likely pathogenic
NM_001378969.1(KCND3):c.811T>G (p.Tyr271Asp) single nucleotide variant not provided [RCV003332545] Chr1:111981916 [GRCh38]
Chr1:112524538 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1201G>A (p.Val401Met) single nucleotide variant not provided [RCV003332454] Chr1:111787012 [GRCh38]
Chr1:112329634 [GRCh37]
Chr1:1p13.2		 pathogenic
NM_001378969.1(KCND3):c.1218T>C (p.Phe406=) single nucleotide variant Cardiovascular phenotype [RCV004519262] Chr1:111786995 [GRCh38]
Chr1:112329617 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1014G>A (p.Val338=) single nucleotide variant Cardiovascular phenotype [RCV004519260] Chr1:111981713 [GRCh38]
Chr1:112524335 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1419G>C (p.Glu473Asp) single nucleotide variant Cardiovascular phenotype [RCV004519263] Chr1:111780267 [GRCh38]
Chr1:112322889 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1508C>A (p.Ser503Tyr) single nucleotide variant Cardiovascular phenotype [RCV004519265] Chr1:111778446 [GRCh38]
Chr1:112321068 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1506C>T (p.Thr502=) single nucleotide variant Cardiovascular phenotype [RCV004519264] Chr1:111778448 [GRCh38]
Chr1:112321070 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.238A>C (p.Lys80Gln) single nucleotide variant Cardiovascular phenotype [RCV004406034] Chr1:111982489 [GRCh38]
Chr1:112525111 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.348C>A (p.Asp116Glu) single nucleotide variant Cardiovascular phenotype [RCV004636071] Chr1:111982379 [GRCh38]
Chr1:112525001 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1401G>A (p.Lys467=) single nucleotide variant Cardiovascular phenotype [RCV004636073] Chr1:111780285 [GRCh38]
Chr1:112322907 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1146C>T (p.Ile382=) single nucleotide variant Cardiovascular phenotype [RCV004636074] Chr1:111787067 [GRCh38]
Chr1:112329689 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1366C>A (p.Leu456Met) single nucleotide variant Cardiovascular phenotype [RCV004636075] Chr1:111780695 [GRCh38]
Chr1:112323317 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1512C>T (p.Thr504=) single nucleotide variant Cardiovascular phenotype [RCV004636072] Chr1:111778442 [GRCh38]
Chr1:112321064 [GRCh37]
Chr1:1p13.2		 likely benign
NM_001378969.1(KCND3):c.1732A>G (p.Ile578Val) single nucleotide variant Cardiovascular phenotype [RCV004636070] Chr1:111777060 [GRCh38]
Chr1:112319682 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.990G>A (p.Met330Ile) single nucleotide variant Cardiovascular phenotype [RCV004626562] Chr1:111981737 [GRCh38]
Chr1:112524359 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.481C>T (p.Pro161Ser) single nucleotide variant not specified [RCV004702797] Chr1:111982246 [GRCh38]
Chr1:112524868 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.809A>G (p.Tyr270Cys) single nucleotide variant not provided [RCV004724021] Chr1:111981918 [GRCh38]
Chr1:112524540 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1217T>C (p.Phe406Ser) single nucleotide variant not provided [RCV004729559] Chr1:111786996 [GRCh38]
Chr1:112329618 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1187C>T (p.Ala396Val) single nucleotide variant not provided [RCV004769164] Chr1:111787026 [GRCh38]
Chr1:112329648 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.923_924inv (p.Arg308Pro) inversion not provided [RCV004768364] Chr1:111981803..111981804 [GRCh38]
Chr1:112524425..112524426 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1900G>A (p.Ala634Thr) single nucleotide variant not provided [RCV004770494] Chr1:111776145 [GRCh38]
Chr1:112318767 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.1822T>C (p.Ser608Pro) single nucleotide variant not provided [RCV004776099] Chr1:111776223 [GRCh38]
Chr1:112318845 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_001378969.1(KCND3):c.52G>A (p.Gly18Arg) single nucleotide variant not provided [RCV004697700] Chr1:111982675 [GRCh38]
Chr1:112525297 [GRCh37]
Chr1:1p13.2		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR449Chsa-miR-449c-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:3396
Count of miRNA genes:1210
Interacting mature miRNAs:1548
Transcripts:ENST00000302127, ENST00000315987, ENST00000369697
Prediction methods: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
407014982GWAS663958_HPR interval QTL GWAS663958 (human)1e-13PR intervalPR interval (CMO:0000233)1111987808111987809Human
407099982GWAS748958_Helectrocardiography QTL GWAS748958 (human)1e-62electrocardiography1111920327111920330Human
407099981GWAS748957_Helectrocardiography QTL GWAS748957 (human)4e-08electrocardiography1111920327111920330Human
407099980GWAS748956_Helectrocardiography QTL GWAS748956 (human)4e-09electrocardiography1111920327111920330Human
407010898GWAS659874_Hbody mass index QTL GWAS659874 (human)2e-09body mass indexbody mass index (BMI) (CMO:0000105)1111804634111804635Human
407411304GWAS1060280_Helectrocardiography QTL GWAS1060280 (human)1e-12electrocardiography1111838484111838485Human
407411309GWAS1060285_Helectrocardiography QTL GWAS1060285 (human)3e-10electrocardiography1111838484111838485Human
1300021BP45_HBlood pressure QTL 45 (human)1.770.00218Blood pressuresystolic1103389009129389009Human
407096421GWAS745397_Hbody mass index QTL GWAS745397 (human)9e-15body mass indexbody mass index (BMI) (CMO:0000105)1111781489111781490Human
407411310GWAS1060286_Helectrocardiography QTL GWAS1060286 (human)7e-11electrocardiography1111838484111838485Human
407411311GWAS1060287_Helectrocardiography QTL GWAS1060287 (human)2e-09electrocardiography1111838484111838485Human
406965865GWAS614841_Hresponse to radiation, prostate carcinoma QTL GWAS614841 (human)6e-16response to radiation, prostate carcinoma1111873741111873742Human
407018091GWAS667067_Hatrial fibrillation QTL GWAS667067 (human)1e-14atrial fibrillation1111921382111921383Human
407411300GWAS1060276_Helectrocardiography QTL GWAS1060276 (human)3e-11electrocardiography1111838484111838485Human
407411301GWAS1060277_Helectrocardiography QTL GWAS1060277 (human)7e-13electrocardiography1111838484111838485Human
407411302GWAS1060278_Helectrocardiography QTL GWAS1060278 (human)8e-15electrocardiography1111838484111838485Human
407150187GWAS799163_HQRS duration QTL GWAS799163 (human)1e-13QRS durationQRS duration (CMO:0000267)1111912820111912821Human
407234154GWAS883130_Hbone density QTL GWAS883130 (human)1e-42bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)1111987808111987809Human
407411303GWAS1060279_Helectrocardiography QTL GWAS1060279 (human)9e-15electrocardiography1111838484111838485Human
407071355GWAS720331_Hearly cardiac repolarization measurement QTL GWAS720331 (human)8e-12early cardiac repolarization measurement1111921382111921383Human
407411312GWAS1060288_Helectrocardiography QTL GWAS1060288 (human)7e-10electrocardiography1111838484111838485Human
407411313GWAS1060289_Helectrocardiography QTL GWAS1060289 (human)3e-08electrocardiography1111838484111838485Human
406981752GWAS630728_Hcardiac arrhythmia QTL GWAS630728 (human)3e-09cardiac arrhythmia1111836404111836405Human
407411314GWAS1060290_Helectrocardiography QTL GWAS1060290 (human)7e-18electrocardiography1111838484111838485Human
407411315GWAS1060291_Helectrocardiography QTL GWAS1060291 (human)1e-15electrocardiography1111838484111838485Human
407411208GWAS1060184_Helectrocardiography QTL GWAS1060184 (human)1e-14electrocardiography1111838484111838485Human
407411209GWAS1060185_Helectrocardiography QTL GWAS1060185 (human)2e-14electrocardiography1111838484111838485Human
407411210GWAS1060186_Helectrocardiography QTL GWAS1060186 (human)2e-13electrocardiography1111838484111838485Human
407411211GWAS1060187_Helectrocardiography QTL GWAS1060187 (human)6e-12electrocardiography1111838484111838485Human
407030789GWAS679765_Helectrocardiography QTL GWAS679765 (human)1e-44electrocardiography1111987808111987809Human
407235085GWAS884061_Hatrial fibrillation QTL GWAS884061 (human)4e-15atrial fibrillation1111849738111849739Human
407411202GWAS1060178_Helectrocardiography QTL GWAS1060178 (human)1e-08electrocardiography1111838484111838485Human
407401987GWAS1050963_HOpioid use measurement QTL GWAS1050963 (human)3e-08Opioid use measurement1111781489111781490Human
407411203GWAS1060179_Helectrocardiography QTL GWAS1060179 (human)3e-09electrocardiography1111838484111838485Human
406906380GWAS555356_Hsmoking initiation QTL GWAS555356 (human)4e-10smoking initiation1111814277111814278Human
407411204GWAS1060180_Helectrocardiography QTL GWAS1060180 (human)2e-08electrocardiography1111838484111838485Human
407411205GWAS1060181_Helectrocardiography QTL GWAS1060181 (human)4e-08electrocardiography1111838484111838485Human
407411206GWAS1060182_Helectrocardiography QTL GWAS1060182 (human)7e-12electrocardiography1111838484111838485Human
407411207GWAS1060183_Helectrocardiography QTL GWAS1060183 (human)3e-12electrocardiography1111838484111838485Human
407049232GWAS698208_Hlysophosphatidylcholine 20:4 measurement QTL GWAS698208 (human)0.0000005glycerophosphocholine amount (VT:0011004)1111850622111850623Human
407262238GWAS911214_Hmultisite chronic pain QTL GWAS911214 (human)3e-08multisite chronic pain1111775862111775863Human
407010841GWAS659817_Hbody mass index QTL GWAS659817 (human)6e-13body mass indexbody mass index (BMI) (CMO:0000105)1111775862111775863Human
406885920GWAS534896_Hbody mass index QTL GWAS534896 (human)1e-13body mass indexbody mass index (BMI) (CMO:0000105)1111781489111781490Human
407317025GWAS966001_Hbody weight QTL GWAS966001 (human)1e-10body mass (VT:0001259)body weight (CMO:0000012)1111770808111770809Human
406965289GWAS614265_HCOVID-19 QTL GWAS614265 (human)6e-10COVID-191111895041111895042Human
407101483GWAS750459_Helectrocardiography QTL GWAS750459 (human)8e-36electrocardiography1111920327111920330Human
407101482GWAS750458_Helectrocardiography QTL GWAS750458 (human)3e-34electrocardiography1111920327111920330Human
407101481GWAS750457_Helectrocardiography QTL GWAS750457 (human)4e-37electrocardiography1111920327111920330Human
406958122GWAS607098_Helectrocardiography QTL GWAS607098 (human)2e-39electrocardiography1111920327111920330Human
407101480GWAS750456_Helectrocardiography QTL GWAS750456 (human)9e-40electrocardiography1111920327111920330Human
407101487GWAS750463_Helectrocardiography QTL GWAS750463 (human)3e-29electrocardiography1111920327111920330Human
407101486GWAS750462_Helectrocardiography QTL GWAS750462 (human)4e-31electrocardiography1111920327111920330Human
407101485GWAS750461_Helectrocardiography QTL GWAS750461 (human)7e-33electrocardiography1111920327111920330Human
407101484GWAS750460_Helectrocardiography QTL GWAS750460 (human)1e-34electrocardiography1111920327111920330Human
407391271GWAS1040247_Hlower face morphology measurement QTL GWAS1040247 (human)3e-08facial morphology trait (VT:0003743)1111841365111841366Human
407089720GWAS738696_Hatrial fibrillation QTL GWAS738696 (human)4e-09atrial fibrillation1111919280111919281Human
407109824GWAS758800_Helectrocardiography QTL GWAS758800 (human)3e-13electrocardiography1111920327111920330Human
407109825GWAS758801_Helectrocardiography QTL GWAS758801 (human)6e-13electrocardiography1111920327111920330Human
407116482GWAS765458_Hbody mass index QTL GWAS765458 (human)5e-17body mass indexbody mass index (BMI) (CMO:0000105)1111775862111775863Human
407411392GWAS1060368_Helectrocardiography QTL GWAS1060368 (human)1e-13electrocardiography1111838484111838485Human
407411393GWAS1060369_Helectrocardiography QTL GWAS1060369 (human)5e-13electrocardiography1111838484111838485Human
407411394GWAS1060370_Helectrocardiography QTL GWAS1060370 (human)6e-11electrocardiography1111838484111838485Human
407411395GWAS1060371_Helectrocardiography QTL GWAS1060371 (human)3e-13electrocardiography1111838484111838485Human
407411396GWAS1060372_Helectrocardiography QTL GWAS1060372 (human)1e-11electrocardiography1111838484111838485Human
407315658GWAS964634_HJT interval QTL GWAS964634 (human)3e-16JT intervalheart electrical conduction measurement (CMO:0000230)1111920327111920328Human
407411397GWAS1060373_Helectrocardiography QTL GWAS1060373 (human)1e-10electrocardiography1111838484111838485Human
407263455GWAS912431_Hatrial fibrillation QTL GWAS912431 (human)1e-12atrial fibrillation1111849738111849739Human
407101151GWAS750127_Helectrocardiography QTL GWAS750127 (human)1e-61electrocardiography1111920327111920330Human
407101150GWAS750126_Helectrocardiography QTL GWAS750126 (human)8e-62electrocardiography1111920327111920330Human
407101149GWAS750125_Helectrocardiography QTL GWAS750125 (human)3e-60electrocardiography1111920327111920330Human
407101155GWAS750131_Helectrocardiography QTL GWAS750131 (human)2e-50electrocardiography1111920327111920330Human
407101154GWAS750130_Helectrocardiography QTL GWAS750130 (human)3e-53electrocardiography1111920327111920330Human
407102178GWAS751154_Helectrocardiography QTL GWAS751154 (human)4e-40electrocardiography1111920327111920330Human
407101153GWAS750129_Helectrocardiography QTL GWAS750129 (human)7e-56electrocardiography1111920327111920330Human
407101152GWAS750128_Helectrocardiography QTL GWAS750128 (human)4e-59electrocardiography1111920327111920330Human
407101159GWAS750135_Helectrocardiography QTL GWAS750135 (human)2e-53electrocardiography1111920327111920330Human
407101158GWAS750134_Helectrocardiography QTL GWAS750134 (human)4e-56electrocardiography1111920327111920330Human
407101157GWAS750133_Helectrocardiography QTL GWAS750133 (human)1e-53electrocardiography1111920327111920330Human
407101156GWAS750132_Helectrocardiography QTL GWAS750132 (human)1e-50electrocardiography1111920327111920330Human
407101163GWAS750139_Helectrocardiography QTL GWAS750139 (human)2e-44electrocardiography1111920327111920330Human
407101162GWAS750138_Helectrocardiography QTL GWAS750138 (human)1e-43electrocardiography1111920327111920330Human
407101161GWAS750137_Helectrocardiography QTL GWAS750137 (human)2e-42electrocardiography1111920327111920330Human
407101160GWAS750136_Helectrocardiography QTL GWAS750136 (human)3e-48electrocardiography1111920327111920330Human
406914285GWAS563261_HP wave terminal force measurement QTL GWAS563261 (human)6e-19P wave terminal force measurement1111912200111912201Human
406962929GWAS611905_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS611905 (human)3e-08severe acute respiratory syndrome, COVID-191111967106111967107Human
406891249GWAS540225_HDNA methylation QTL GWAS540225 (human)4e-08DNA methylation1111939045111939046Human
407278836GWAS927812_Hbody height QTL GWAS927812 (human)5e-08body height (VT:0001253)body height (CMO:0000106)1111956412111956413Human
407261936GWAS910912_Htriglyceride measurement, response to selective serotonin reuptake inhibitor QTL GWAS910912 (human)2e-08triglyceride measurement, response to selective serotonin reuptake inhibitorblood triglyceride level (CMO:0000118)1111980076111980077Human
406914302GWAS563278_HP wave terminal force measurement QTL GWAS563278 (human)3e-20P wave terminal force measurement1111917640111917641Human
407250681GWAS899657_Hmultisite chronic pain QTL GWAS899657 (human)2e-09multisite chronic pain1111774890111774891Human
407110792GWAS759768_Helectrocardiography QTL GWAS759768 (human)2e-59electrocardiography1111920327111920330Human
407110793GWAS759769_Helectrocardiography QTL GWAS759769 (human)1e-60electrocardiography1111920327111920330Human
407110794GWAS759770_Helectrocardiography QTL GWAS759770 (human)3e-59electrocardiography1111920327111920330Human
407180434GWAS829410_Hatrial fibrillation QTL GWAS829410 (human)2e-12atrial fibrillation1111849738111849739Human
407121055GWAS770031_Helectrocardiography QTL GWAS770031 (human)5e-28electrocardiography1111920327111920330Human
407121060GWAS770036_Helectrocardiography QTL GWAS770036 (human)2e-24electrocardiography1111920327111920330Human
407121061GWAS770037_Helectrocardiography QTL GWAS770037 (human)3e-23electrocardiography1111920327111920330Human
407121062GWAS770038_Helectrocardiography QTL GWAS770038 (human)2e-22electrocardiography1111920327111920330Human
407121063GWAS770039_Helectrocardiography QTL GWAS770039 (human)2e-21electrocardiography1111920327111920330Human
407121056GWAS770032_Helectrocardiography QTL GWAS770032 (human)2e-27electrocardiography1111920327111920330Human
407121057GWAS770033_Helectrocardiography QTL GWAS770033 (human)5e-26electrocardiography1111920327111920330Human
407121058GWAS770034_Helectrocardiography QTL GWAS770034 (human)2e-26electrocardiography1111920327111920330Human
407121059GWAS770035_Helectrocardiography QTL GWAS770035 (human)2e-25electrocardiography1111920327111920330Human
407121068GWAS770044_Helectrocardiography QTL GWAS770044 (human)8e-18electrocardiography1111920327111920330Human
407121064GWAS770040_Helectrocardiography QTL GWAS770040 (human)1e-19electrocardiography1111920327111920330Human
407121065GWAS770041_Helectrocardiography QTL GWAS770041 (human)7e-20electrocardiography1111920327111920330Human
407121066GWAS770042_Helectrocardiography QTL GWAS770042 (human)3e-19electrocardiography1111920327111920330Human
407121067GWAS770043_Helectrocardiography QTL GWAS770043 (human)3e-18electrocardiography1111920327111920330Human
407411386GWAS1060362_Helectrocardiography QTL GWAS1060362 (human)9e-17electrocardiography1111838484111838485Human
407411387GWAS1060363_Helectrocardiography QTL GWAS1060363 (human)7e-17electrocardiography1111838484111838485Human
407411388GWAS1060364_Helectrocardiography QTL GWAS1060364 (human)5e-17electrocardiography1111838484111838485Human
407411389GWAS1060365_Helectrocardiography QTL GWAS1060365 (human)3e-14electrocardiography1111838484111838485Human
407411390GWAS1060366_Helectrocardiography QTL GWAS1060366 (human)7e-14electrocardiography1111838484111838485Human
407411391GWAS1060367_Helectrocardiography QTL GWAS1060367 (human)4e-15electrocardiography1111838484111838485Human
407314770GWAS963746_HQRS duration QTL GWAS963746 (human)2e-16QRS durationQRS duration (CMO:0000267)1111912200111912201Human
406948187GWAS597163_Hbody mass index QTL GWAS597163 (human)5e-18body mass indexbody mass index (BMI) (CMO:0000105)1111775862111775863Human
406948188GWAS597164_Hbody mass index QTL GWAS597164 (human)1e-08body mass indexbody mass index (BMI) (CMO:0000105)1111804367111804368Human
407181147GWAS830123_Hneutrophil count QTL GWAS830123 (human)9e-10neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)1111828449111828450Human
407313760GWAS962736_HJT interval QTL GWAS962736 (human)2e-15JT intervalheart electrical conduction measurement (CMO:0000230)1111920327111920328Human
407295340GWAS944316_Hbody mass index QTL GWAS944316 (human)3e-10body mass indexbody mass index (BMI) (CMO:0000105)1111775862111775863Human
407121154GWAS770130_Helectrocardiography QTL GWAS770130 (human)3e-08electrocardiography1111787356111787357Human
406994197GWAS643173_Hindole-3-propionate measurement QTL GWAS643173 (human)0.000008indole-3-propionate measurement1111837514111837515Human
407401746GWAS1050722_Hself reported educational attainment QTL GWAS1050722 (human)9e-12self reported educational attainment1111781489111781490Human
407102771GWAS751747_Helectrocardiography QTL GWAS751747 (human)4e-33electrocardiography1111920327111920330Human
407102770GWAS751746_Helectrocardiography QTL GWAS751746 (human)8e-33electrocardiography1111920327111920330Human
407102769GWAS751745_Helectrocardiography QTL GWAS751745 (human)4e-30electrocardiography1111920327111920330Human
407287604GWAS936580_Hatrial fibrillation QTL GWAS936580 (human)8e-13atrial fibrillation1111921382111921383Human
407102775GWAS751751_Helectrocardiography QTL GWAS751751 (human)9e-38electrocardiography1111920327111920330Human
407102774GWAS751750_Helectrocardiography QTL GWAS751750 (human)3e-38electrocardiography1111920327111920330Human
407102773GWAS751749_Helectrocardiography QTL GWAS751749 (human)4e-35electrocardiography1111920327111920330Human
407102772GWAS751748_Helectrocardiography QTL GWAS751748 (human)1e-33electrocardiography1111920327111920330Human
407102779GWAS751755_Helectrocardiography QTL GWAS751755 (human)2e-38electrocardiography1111920327111920330Human
407102778GWAS751754_Helectrocardiography QTL GWAS751754 (human)1e-40electrocardiography1111920327111920330Human
407102777GWAS751753_Helectrocardiography QTL GWAS751753 (human)4e-39electrocardiography1111920327111920330Human
407102776GWAS751752_Helectrocardiography QTL GWAS751752 (human)6e-37electrocardiography1111920327111920330Human
407102782GWAS751758_Helectrocardiography QTL GWAS751758 (human)3e-44electrocardiography1111920327111920330Human
407102781GWAS751757_Helectrocardiography QTL GWAS751757 (human)2e-40electrocardiography1111920327111920330Human
407102780GWAS751756_Helectrocardiography QTL GWAS751756 (human)5e-38electrocardiography1111920327111920330Human
407293382GWAS942358_HC-reactive protein measurement QTL GWAS942358 (human)5e-09C-reactive protein measurementblood C-reactive protein level (CMO:0003160)1111770808111770809Human
407110087GWAS759063_Helectrocardiography QTL GWAS759063 (human)8e-28electrocardiography1111920327111920330Human
407110092GWAS759068_Helectrocardiography QTL GWAS759068 (human)5e-37electrocardiography1111920327111920330Human
407110088GWAS759064_Helectrocardiography QTL GWAS759064 (human)5e-31electrocardiography1111920327111920330Human
407110089GWAS759065_Helectrocardiography QTL GWAS759065 (human)3e-32electrocardiography1111920327111920330Human
406993868GWAS642844_Hbody height QTL GWAS642844 (human)5e-12body height (VT:0001253)body height (CMO:0000106)1111775862111775863Human
407110090GWAS759066_Helectrocardiography QTL GWAS759066 (human)5e-33electrocardiography1111920327111920330Human
407110091GWAS759067_Helectrocardiography QTL GWAS759067 (human)9e-37electrocardiography1111920327111920330Human
407121364GWAS770340_Helectrocardiography QTL GWAS770340 (human)6e-14electrocardiography1111920327111920330Human
407121365GWAS770341_Helectrocardiography QTL GWAS770341 (human)8e-12electrocardiography1111920327111920330Human
407121366GWAS770342_Helectrocardiography QTL GWAS770342 (human)4e-11electrocardiography1111920327111920330Human
407121367GWAS770343_Helectrocardiography QTL GWAS770343 (human)9e-11electrocardiography1111920327111920330Human
407121360GWAS770336_Helectrocardiography QTL GWAS770336 (human)3e-17electrocardiography1111920327111920330Human
407121361GWAS770337_Helectrocardiography QTL GWAS770337 (human)9e-16electrocardiography1111920327111920330Human
407121362GWAS770338_Helectrocardiography QTL GWAS770338 (human)9e-15electrocardiography1111920327111920330Human
407121363GWAS770339_Helectrocardiography QTL GWAS770339 (human)3e-14electrocardiography1111920327111920330Human
407121368GWAS770344_Helectrocardiography QTL GWAS770344 (human)4e-10electrocardiography1111920327111920330Human
407024103GWAS673079_Hearly cardiac repolarization measurement QTL GWAS673079 (human)0.000008early cardiac repolarization measurement1111921754111921755Human
406911975GWAS560951_Hresponse to vaccine, cytokine measurement QTL GWAS560951 (human)9e-10response to vaccine, cytokine measurementblood cytokine measurement (CMO:0001924)1111849738111849739Human
407029227GWAS678203_Hvisceral adipose tissue measurement, body mass index QTL GWAS678203 (human)0.000001visceral adipose tissue measurement, body mass indexbody mass index (BMI) (CMO:0000105)1111894722111894723Human
407102447GWAS751423_Helectrocardiography QTL GWAS751423 (human)9e-35electrocardiography1111920327111920330Human
407102451GWAS751427_Helectrocardiography QTL GWAS751427 (human)6e-32electrocardiography1111920327111920330Human
407102450GWAS751426_Helectrocardiography QTL GWAS751426 (human)2e-32electrocardiography1111920327111920330Human
407102449GWAS751425_Helectrocardiography QTL GWAS751425 (human)3e-30electrocardiography1111920327111920330Human
407102448GWAS751424_Helectrocardiography QTL GWAS751424 (human)2e-31electrocardiography1111920327111920330Human
407102455GWAS751431_Helectrocardiography QTL GWAS751431 (human)1e-25electrocardiography1111920327111920330Human
407102454GWAS751430_Helectrocardiography QTL GWAS751430 (human)1e-27electrocardiography1111920327111920330Human
407102453GWAS751429_Helectrocardiography QTL GWAS751429 (human)2e-28electrocardiography1111920327111920330Human
407282160GWAS931136_Hbody height QTL GWAS931136 (human)9e-11body height (VT:0001253)body height (CMO:0000106)1111920362111920363Human
407102452GWAS751428_Helectrocardiography QTL GWAS751428 (human)2e-29electrocardiography1111920327111920330Human
407030266GWAS679242_Hbeta wave measurement QTL GWAS679242 (human)0.000002beta wave measurementbrain activity measurement (CMO:0001737)1111815891111815892Human
407059960GWAS708936_HC-reactive protein measurement QTL GWAS708936 (human)2e-09C-reactive protein measurementblood C-reactive protein level (CMO:0003160)1111785623111785624Human
407102456GWAS751432_Helectrocardiography QTL GWAS751432 (human)1e-29electrocardiography1111920327111920330Human
407036412GWAS685388_Hself reported educational attainment QTL GWAS685388 (human)1e-09self reported educational attainment1111784522111784523Human
407110551GWAS759527_Helectrocardiography QTL GWAS759527 (human)8e-48electrocardiography1111920327111920330Human
407256977GWAS905953_Hbody mass index QTL GWAS905953 (human)7e-12body mass indexbody mass index (BMI) (CMO:0000105)1111770808111770809Human
407110556GWAS759532_Helectrocardiography QTL GWAS759532 (human)4e-49electrocardiography1111920327111920330Human
407110557GWAS759533_Helectrocardiography QTL GWAS759533 (human)6e-52electrocardiography1111920327111920330Human
407110558GWAS759534_Helectrocardiography QTL GWAS759534 (human)3e-52electrocardiography1111920327111920330Human
407110559GWAS759535_Helectrocardiography QTL GWAS759535 (human)2e-51electrocardiography1111920327111920330Human
407110552GWAS759528_Helectrocardiography QTL GWAS759528 (human)7e-49electrocardiography1111920327111920330Human
407110553GWAS759529_Helectrocardiography QTL GWAS759529 (human)2e-47electrocardiography1111920327111920330Human
407184792GWAS833768_Hatrial fibrillation QTL GWAS833768 (human)7e-14atrial fibrillation1111908825111908826Human
407110554GWAS759530_Helectrocardiography QTL GWAS759530 (human)3e-46electrocardiography1111920327111920330Human
407110555GWAS759531_Helectrocardiography QTL GWAS759531 (human)7e-47electrocardiography1111920327111920330Human
407110564GWAS759540_Helectrocardiography QTL GWAS759540 (human)4e-60electrocardiography1111920327111920330Human
407110565GWAS759541_Helectrocardiography QTL GWAS759541 (human)2e-60electrocardiography1111920327111920330Human
406961059GWAS610035_Hgut microbiome measurement, taxonomic microbiome measurement QTL GWAS610035 (human)8e-09gut microbiome measurement, taxonomic microbiome measurement1111870400111870401Human
407110566GWAS759542_Helectrocardiography QTL GWAS759542 (human)5e-58electrocardiography1111920327111920330Human
407110560GWAS759536_Helectrocardiography QTL GWAS759536 (human)2e-52electrocardiography1111920327111920330Human
407410092GWAS1059068_Helectrocardiography QTL GWAS1059068 (human)4e-11electrocardiography1111838484111838485Human
406900645GWAS549621_Hatrial fibrillation QTL GWAS549621 (human)3e-09atrial fibrillation1111849738111849739Human
407110561GWAS759537_Helectrocardiography QTL GWAS759537 (human)4e-54electrocardiography1111920327111920330Human
407410093GWAS1059069_Helectrocardiography QTL GWAS1059069 (human)2e-11electrocardiography1111838484111838485Human
407110562GWAS759538_Helectrocardiography QTL GWAS759538 (human)5e-59electrocardiography1111920327111920330Human
407410094GWAS1059070_Helectrocardiography QTL GWAS1059070 (human)4e-10electrocardiography1111838484111838485Human
407110563GWAS759539_Helectrocardiography QTL GWAS759539 (human)3e-62electrocardiography1111920327111920330Human
407395746GWAS1044722_Heducational attainment QTL GWAS1044722 (human)3e-23educational attainment1111781489111781490Human
406994351GWAS643327_Hleukocyte count QTL GWAS643327 (human)0.0000002leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)1111820023111820024Human
407413157GWAS1062133_Hatrial fibrillation QTL GWAS1062133 (human)1e-20atrial fibrillation1111840049111840050Human
407039920GWAS688896_HP wave duration QTL GWAS688896 (human)8e-11P wave durationP wave duration (CMO:0000264)1111894722111894723Human

Markers in Region
D1S502  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,507,911 - 112,508,168UniSTSGRCh37
GRCh371112,508,005 - 112,508,139UniSTSGRCh37
Build 361112,309,434 - 112,309,691RGDNCBI36
Celera1110,754,611 - 110,754,745UniSTS
Celera1110,754,517 - 110,754,774RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,379,326 - 110,379,613UniSTS
HuRef1110,379,420 - 110,379,584UniSTS
Marshfield Genetic Map1146.53RGD
Genethon Genetic Map1151.2UniSTS
TNG Radiation Hybrid Map160982.0UniSTS
GeneMap99-G3 RH Map15172.0UniSTS
D1S187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,360,629 - 112,360,723UniSTSGRCh37
Build 361112,162,152 - 112,162,246RGDNCBI36
Celera1110,607,229 - 110,607,323RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,232,013 - 110,232,107UniSTS
Marshfield Genetic Map1145.45UniSTS
Marshfield Genetic Map1145.45RGD
deCODE Assembly Map1133.37UniSTS
AL009441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,438,409 - 112,438,534UniSTSGRCh37
Build 361112,239,932 - 112,240,057RGDNCBI36
Celera1110,685,015 - 110,685,140RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,309,823 - 110,309,948UniSTS
D1S3009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,388,992 - 112,389,155UniSTSGRCh37
Build 361112,190,515 - 112,190,678RGDNCBI36
Celera1110,635,593 - 110,635,756RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,260,392 - 110,260,564UniSTS
Whitehead-RH Map1402.9UniSTS
Whitehead-YAC Contig Map1 UniSTS
AL033924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,416,713 - 112,416,833UniSTSGRCh37
Build 361112,218,236 - 112,218,356RGDNCBI36
Celera1110,663,320 - 110,663,440RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,288,126 - 110,288,246UniSTS
SHGC-84861  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,417,647 - 112,417,935UniSTSGRCh37
Build 361112,219,170 - 112,219,458RGDNCBI36
Celera1110,664,254 - 110,664,542RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,289,060 - 110,289,348UniSTS
TNG Radiation Hybrid Map161021.0UniSTS
RH121515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,417,724 - 112,418,007UniSTSGRCh37
Build 361112,219,247 - 112,219,530RGDNCBI36
Celera1110,664,331 - 110,664,614RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,289,137 - 110,289,420UniSTS
TNG Radiation Hybrid Map161016.0UniSTS
M98989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,507,994 - 112,508,133UniSTSGRCh37
Build 361112,309,517 - 112,309,656RGDNCBI36
Celera1110,754,600 - 110,754,739RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,379,409 - 110,379,578UniSTS
D1S175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,507,994 - 112,508,133UniSTSGRCh37
Build 361112,309,517 - 112,309,656RGDNCBI36
Celera1110,754,600 - 110,754,739RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,379,409 - 110,379,578UniSTS
D1S3047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,389,012 - 112,389,155UniSTSGRCh37
Build 361112,190,535 - 112,190,678RGDNCBI36
Celera1110,635,613 - 110,635,756RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,260,412 - 110,260,564UniSTS
SHGC-144251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,505,677 - 112,505,968UniSTSGRCh37
Build 361112,307,200 - 112,307,491RGDNCBI36
Celera1110,752,283 - 110,752,574RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,377,097 - 110,377,388UniSTS
TNG Radiation Hybrid Map160977.0UniSTS
AL009679  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,507,723 - 112,507,846UniSTSGRCh37
Build 361112,309,246 - 112,309,369RGDNCBI36
Celera1110,754,329 - 110,754,452RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,379,138 - 110,379,261UniSTS
KCND3_2907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,318,359 - 112,318,928UniSTSGRCh37
Build 361112,119,882 - 112,120,451RGDNCBI36
Celera1110,564,979 - 110,565,548RGD
HuRef1110,189,761 - 110,190,330UniSTS
D1S3159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,369,482 - 112,369,620UniSTSGRCh37
Build 361112,171,005 - 112,171,143RGDNCBI36
Celera1110,616,082 - 110,616,220RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,240,866 - 110,241,004UniSTS
Stanford-G3 RH Map15262.0UniSTS
NCBI RH Map1803.2UniSTS
AL009644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,367,824 - 112,367,986UniSTSGRCh37
Build 361112,169,347 - 112,169,509RGDNCBI36
Celera1110,614,424 - 110,614,586RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,239,208 - 110,239,370UniSTS
G16221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,432,729 - 112,432,864UniSTSGRCh37
Build 361112,234,252 - 112,234,387RGDNCBI36
Celera1110,679,335 - 110,679,470RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,304,141 - 110,304,276UniSTS
AL009944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,398,020 - 112,398,150UniSTSGRCh37
Build 361112,199,543 - 112,199,673RGDNCBI36
Celera1110,644,621 - 110,644,751RGD
Cytogenetic Map1p13.3UniSTS
HuRef1110,269,427 - 110,269,557UniSTS
D1S187  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p13.3UniSTS
D1S502  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p13.3UniSTS
Marshfield Genetic Map1146.53UniSTS
Genethon Genetic Map1151.2UniSTS


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
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2398 2788 2246 4948 1711 2299 4 614 1590 455 2249 6874 6107 46 3729 817 1717 1575 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF048712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF048713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF120491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF137071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF187963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF187964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF205856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF205857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH015914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL450997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY863198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP794506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000302127   ⟹   ENSP00000306923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1111,770,662 - 111,989,668 (-)Ensembl
Ensembl Acc Id: ENST00000315987   ⟹   ENSP00000319591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1111,775,809 - 111,989,155 (-)Ensembl
Ensembl Acc Id: ENST00000369697   ⟹   ENSP00000358711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1111,770,662 - 111,982,796 (-)Ensembl
Ensembl Acc Id: ENST00000703640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1111,776,819 - 111,782,751 (-)Ensembl
Ensembl Acc Id: ENST00000703641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1111,837,028 - 111,989,174 (-)Ensembl
Ensembl Acc Id: ENST00000703642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1111,839,565 - 111,989,168 (-)Ensembl
Ensembl Acc Id: ENST00000703643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1111,972,650 - 111,989,165 (-)Ensembl
RefSeq Acc Id: NM_001378969   ⟹   NP_001365898
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,770,662 - 111,989,668 (-)NCBI
T2T-CHM13v2.01111,785,561 - 112,004,582 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378970   ⟹   NP_001365899
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,770,662 - 111,989,668 (-)NCBI
T2T-CHM13v2.01111,785,561 - 112,004,582 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004980   ⟹   NP_004971
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,770,662 - 111,989,174 (-)NCBI
GRCh371112,318,444 - 112,532,147 (-)NCBI
Build 361112,119,977 - 112,333,300 (-)NCBI Archive
HuRef1110,189,856 - 110,403,378 (-)ENTREZGENE
CHM1_11112,433,439 - 112,646,758 (-)NCBI
T2T-CHM13v2.01111,785,561 - 112,004,088 (-)NCBI
Sequence:
RefSeq Acc Id: NM_172198   ⟹   NP_751948
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,770,662 - 111,989,174 (-)NCBI
GRCh371112,318,444 - 112,532,147 (-)NCBI
Build 361112,119,977 - 112,333,300 (-)NCBI Archive
HuRef1110,189,856 - 110,403,378 (-)ENTREZGENE
CHM1_11112,433,439 - 112,646,758 (-)NCBI
T2T-CHM13v2.01111,785,561 - 112,004,088 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006710629   ⟹   XP_006710692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,770,662 - 111,989,174 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006710632   ⟹   XP_006710695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,895,544 - 111,989,668 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541425   ⟹   XP_011539727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,972,631 - 111,989,668 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541426   ⟹   XP_011539728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,960,136 - 111,989,668 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541427   ⟹   XP_011539729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,822,080 - 111,989,668 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541428   ⟹   XP_011539730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,932,630 - 111,989,668 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001244   ⟹   XP_016856733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,770,662 - 111,989,174 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001245   ⟹   XP_016856734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,972,631 - 111,989,174 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054336461   ⟹   XP_054192436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01111,785,561 - 112,004,274 (-)NCBI
RefSeq Acc Id: XM_054336462   ⟹   XP_054192437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01111,785,561 - 112,004,154 (-)NCBI
RefSeq Acc Id: XM_054336463   ⟹   XP_054192438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01111,986,206 - 112,004,582 (-)NCBI
RefSeq Acc Id: XM_054336464   ⟹   XP_054192439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01111,986,206 - 112,003,931 (-)NCBI
RefSeq Acc Id: XM_054336465   ⟹   XP_054192440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01111,975,025 - 112,004,582 (-)NCBI
RefSeq Acc Id: XM_054336466   ⟹   XP_054192441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01111,910,451 - 112,004,582 (-)NCBI
RefSeq Acc Id: XM_054336467   ⟹   XP_054192442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01111,822,596 - 112,004,582 (-)NCBI
RefSeq Acc Id: XM_054336468   ⟹   XP_054192443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01111,931,824 - 112,004,582 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001365898 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365899 (Get FASTA)   NCBI Sequence Viewer  
  NP_004971 (Get FASTA)   NCBI Sequence Viewer  
  NP_751948 (Get FASTA)   NCBI Sequence Viewer  
  XP_006710692 (Get FASTA)   NCBI Sequence Viewer  
  XP_006710695 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539727 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539728 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539729 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539730 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856733 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856734 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192436 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192437 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192438 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192439 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192440 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192441 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192442 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192443 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC05121 (Get FASTA)   NCBI Sequence Viewer  
  AAC05122 (Get FASTA)   NCBI Sequence Viewer  
  AAD38898 (Get FASTA)   NCBI Sequence Viewer  
  AAF01044 (Get FASTA)   NCBI Sequence Viewer  
  AAF01045 (Get FASTA)   NCBI Sequence Viewer  
  AAF20924 (Get FASTA)   NCBI Sequence Viewer  
  AAF20925 (Get FASTA)   NCBI Sequence Viewer  
  AAF68177 (Get FASTA)   NCBI Sequence Viewer  
  AAF68178 (Get FASTA)   NCBI Sequence Viewer  
  AAI13476 (Get FASTA)   NCBI Sequence Viewer  
  AAI13478 (Get FASTA)   NCBI Sequence Viewer  
  AAI43391 (Get FASTA)   NCBI Sequence Viewer  
  AAX58111 (Get FASTA)   NCBI Sequence Viewer  
  EAW56510 (Get FASTA)   NCBI Sequence Viewer  
  EAW56511 (Get FASTA)   NCBI Sequence Viewer  
  EAW56512 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000306923
  ENSP00000306923.4
  ENSP00000319591
  ENSP00000319591.2
  ENSP00000358711
  ENSP00000358711.1
GenBank Protein Q9UK17 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_751948   ⟸   NM_172198
- Peptide Label: isoform 2
- UniProtKB: B7ZKV0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004971   ⟸   NM_004980
- Peptide Label: isoform 1
- UniProtKB: Q9UH86 (UniProtKB/Swiss-Prot),   Q9UH85 (UniProtKB/Swiss-Prot),   Q5T0M0 (UniProtKB/Swiss-Prot),   Q14D71 (UniProtKB/Swiss-Prot),   O60577 (UniProtKB/Swiss-Prot),   O60576 (UniProtKB/Swiss-Prot),   Q9UK16 (UniProtKB/Swiss-Prot),   Q9UK17 (UniProtKB/Swiss-Prot),   B7ZKV0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006710692   ⟸   XM_006710629
- Peptide Label: isoform X1
- UniProtKB: Q9UH86 (UniProtKB/Swiss-Prot),   Q9UH85 (UniProtKB/Swiss-Prot),   Q5T0M0 (UniProtKB/Swiss-Prot),   Q14D71 (UniProtKB/Swiss-Prot),   O60577 (UniProtKB/Swiss-Prot),   O60576 (UniProtKB/Swiss-Prot),   Q9UK16 (UniProtKB/Swiss-Prot),   Q9UK17 (UniProtKB/Swiss-Prot),   B7ZKV0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006710695   ⟸   XM_006710632
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011539729   ⟸   XM_011541427
- Peptide Label: isoform X5
- Sequence: