KCNE5 (potassium voltage-gated channel subfamily E regulatory subunit 5) - Rat Genome Database

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Gene: KCNE5 (potassium voltage-gated channel subfamily E regulatory subunit 5) Homo sapiens
Analyze
Symbol: KCNE5
Name: potassium voltage-gated channel subfamily E regulatory subunit 5
RGD ID: 1345038
HGNC Page HGNC:6241
Description: Enables potassium channel regulator activity and transmembrane transporter binding activity. Involved in several processes, including cardiac muscle cell action potential involved in contraction; regulation of cardiac muscle cell membrane repolarization; and regulation of potassium ion transmembrane transport. Located in plasma membrane. Part of voltage-gated potassium channel complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AMME syndrome candidate gene 2 protein; AMMECR2 protein; cardiac voltage-gated potassium channel accessory subunit 5; KCNE1-like; KCNE1L; potassium channel subunit beta MiRP4; potassium channel, voltage gated subfamily E regulatory beta subunit 5; potassium voltage-gated channel subfamily E member 1-like protein; potassium voltage-gated channel subfamily E regulatory beta subunit 5; potassium voltage-gated channel, Isk-related family, member 1-like
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
GRCh38X109,623,700 - 109,625,172 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX109,623,700 - 109,625,172 (-)EnsemblGRCh38hg38GRCh38
GRCh37X108,866,929 - 108,868,401 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X108,753,585 - 108,755,049 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X108,673,073 - 108,674,538NCBI
CeleraX109,346,567 - 109,348,031 (-)NCBICelera
Cytogenetic MapXq23NCBI
HuRefX98,489,930 - 98,491,217 (-)NCBIHuRef
CHM1_1X108,778,194 - 108,779,658 (-)NCBICHM1_1
T2T-CHM13v2.0X108,071,490 - 108,072,962 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8125298   PMID:10493825   PMID:12324418   PMID:12477932   PMID:15193977   PMID:15368194   PMID:15489334   PMID:16054468   PMID:16303284   PMID:18313602   PMID:20301690   PMID:20533308  
PMID:21493962   PMID:21730298   PMID:21832049   PMID:21873635   PMID:21985337   PMID:26242757   PMID:27484720   PMID:30129429   PMID:32296183  


Genomics

Comparative Map Data
KCNE5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X109,623,700 - 109,625,172 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX109,623,700 - 109,625,172 (-)EnsemblGRCh38hg38GRCh38
GRCh37X108,866,929 - 108,868,401 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X108,753,585 - 108,755,049 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X108,673,073 - 108,674,538NCBI
CeleraX109,346,567 - 109,348,031 (-)NCBICelera
Cytogenetic MapXq23NCBI
HuRefX98,489,930 - 98,491,217 (-)NCBIHuRef
CHM1_1X108,778,194 - 108,779,658 (-)NCBICHM1_1
T2T-CHM13v2.0X108,071,490 - 108,072,962 (-)NCBIT2T-CHM13v2.0
Kcne5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X141,087,749 - 141,089,194 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX141,087,748 - 141,089,290 (-)EnsemblGRCm39 Ensembl
GRCm38X142,304,753 - 142,306,198 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX142,304,752 - 142,306,294 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X138,739,296 - 138,740,741 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X137,551,121 - 137,552,566 (-)NCBIMGSCv36mm8
CeleraX126,300,230 - 126,301,675 (-)NCBICelera
Cytogenetic MapXF2NCBI
cM MapX63.11NCBI
Kcne5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X110,727,234 - 110,727,849 (-)NCBIGRCr8
mRatBN7.2X105,930,398 - 105,931,013 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX105,930,398 - 105,931,013 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX108,068,193 - 108,068,808 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X111,567,368 - 111,567,983 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X109,133,664 - 109,134,279 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X113,583,844 - 113,584,459 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX113,583,844 - 113,584,459 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X112,033,789 - 112,034,404 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X36,243,961 - 36,244,576 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
CeleraX105,344,535 - 105,345,150 (-)NCBICelera
Cytogenetic MapXq33NCBI
Kcne5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554906,242,197 - 6,243,627 (+)NCBIChiLan1.0ChiLan1.0
KCNE5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X109,114,032 - 109,115,971 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X109,117,636 - 109,119,108 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X98,731,109 - 98,732,575 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X109,201,428 - 109,202,890 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX109,202,320 - 109,202,748 (-)Ensemblpanpan1.1panPan2
KCNE5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X82,844,188 - 82,845,641 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX82,845,064 - 82,846,083 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX68,922,748 - 68,924,125 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X84,494,588 - 84,496,047 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX84,495,468 - 84,495,884 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X81,971,600 - 81,973,057 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X83,665,901 - 83,667,358 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X83,494,598 - 83,495,963 (-)NCBIUU_Cfam_GSD_1.0
Kcne5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X82,099,472 - 82,100,922 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364995,557,202 - 5,557,627 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364995,557,076 - 5,558,467 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNE5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX89,741,190 - 89,742,672 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X89,741,187 - 89,742,732 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X105,356,199 - 105,357,717 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNE5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X97,477,667 - 97,485,376 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX97,478,562 - 97,478,987 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606522,673,085 - 22,676,609 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcne5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248036,385,405 - 6,385,876 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNE5
80 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012282.4(KCNE5):c.263T>A (p.Val88Asp) single nucleotide variant Brugada syndrome [RCV000551380]|not specified [RCV004023905] ChrX:109624758 [GRCh38]
ChrX:108867987 [GRCh37]
ChrX:Xq23		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq23(chrX:109505229-110588158)x3 copy number gain See cases [RCV000136581] ChrX:109505229..110588158 [GRCh38]
ChrX:108748458..109831386 [GRCh37]
ChrX:108635114..109718042 [NCBI36]
ChrX:Xq23		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23		 pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28		 pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28		 pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24		 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28		 pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28		 pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24		 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24		 pathogenic
NM_012282.3(KCNE5):c.-144-?_*892dup1465 duplication Brugada syndrome [RCV000230354]   uncertain significance
NM_012282.4(KCNE5):c.305A>C (p.Glu102Ala) single nucleotide variant Brugada syndrome [RCV000234339] ChrX:109624716 [GRCh38]
ChrX:108867945 [GRCh37]
ChrX:Xq23		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25		 uncertain significance
NM_012282.4(KCNE5):c.325C>T (p.Leu109=) single nucleotide variant Brugada syndrome [RCV002060739]|not specified [RCV004025528] ChrX:109624696 [GRCh38]
ChrX:108867925 [GRCh37]
ChrX:Xq23		 likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_012282.4(KCNE5):c.334G>A (p.Asp112Asn) single nucleotide variant Brugada syndrome [RCV000527519]|not specified [RCV004023906] ChrX:109624687 [GRCh38]
ChrX:108867916 [GRCh37]
ChrX:Xq23		 likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1		 pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28		 pathogenic
GRCh37/hg19 Xq22.3-23(chrX:107370001-110989043)x1 copy number loss See cases [RCV000447004] ChrX:107370001..110989043 [GRCh37]
ChrX:Xq22.3-23		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
NM_012282.4(KCNE5):c.97C>T (p.Pro33Ser) single nucleotide variant Brugada syndrome [RCV001521903]|not provided [RCV004713953]|not specified [RCV003230494] ChrX:109624924 [GRCh38]
ChrX:108868153 [GRCh37]
ChrX:Xq23		 benign|likely benign
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)x2 copy number gain See cases [RCV000448592] ChrX:103158718..111556067 [GRCh37]
ChrX:Xq22.2-23		 pathogenic
NM_012282.3(KCNE5):c.281C>T (p.Pro94Leu) single nucleotide variant not specified [RCV000478146] ChrX:109624740 [GRCh38]
ChrX:108867969 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.254G>A (p.Arg85His) single nucleotide variant Brugada syndrome [RCV003539655] ChrX:109624767 [GRCh38]
ChrX:108867996 [GRCh37]
ChrX:Xq23		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23		 pathogenic|uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24		 pathogenic
NM_012282.4(KCNE5):c.123C>T (p.Val41=) single nucleotide variant Brugada syndrome [RCV000638752]|not specified [RCV004025527] ChrX:109624898 [GRCh38]
ChrX:108868127 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.241T>C (p.Tyr81His) single nucleotide variant Brugada syndrome [RCV000534204]|KCNE5-related disorder [RCV003942784] ChrX:109624780 [GRCh38]
ChrX:108868009 [GRCh37]
ChrX:Xq23		 benign|likely benign
NM_012282.4(KCNE5):c.330C>G (p.Thr110=) single nucleotide variant not specified [RCV004333535] ChrX:109624691 [GRCh38]
ChrX:108867920 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.70G>A (p.Gly24Ser) single nucleotide variant not specified [RCV004281596] ChrX:109624951 [GRCh38]
ChrX:108868180 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.346G>A (p.Ala116Thr) single nucleotide variant Brugada syndrome [RCV000638658]|not provided [RCV001779031]|not specified [RCV004025520] ChrX:109624675 [GRCh38]
ChrX:108867904 [GRCh37]
ChrX:Xq23		 likely benign|uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28		 uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28		 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28		 pathogenic
NM_012282.4(KCNE5):c.298G>C (p.Glu100Gln) single nucleotide variant Brugada syndrome [RCV000705587]|not specified [RCV004026697] ChrX:109624723 [GRCh38]
ChrX:108867952 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.55G>T (p.Glu19Ter) single nucleotide variant Brugada syndrome [RCV000705431]|KCNE5-related disorder [RCV004757272]|not provided [RCV001700294] ChrX:109624966 [GRCh38]
ChrX:108868195 [GRCh37]
ChrX:Xq23		 likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 pathogenic
GRCh37/hg19 Xq22.3-23(chrX:105973323-110619655)x1 copy number loss not provided [RCV001007332] ChrX:105973323..110619655 [GRCh37]
ChrX:Xq22.3-23		 likely pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28		 pathogenic
NM_012282.4(KCNE5):c.42C>T (p.Ser14=) single nucleotide variant Brugada syndrome [RCV000942752]|not provided [RCV001655647]|not specified [RCV004029730] ChrX:109624979 [GRCh38]
ChrX:108868208 [GRCh37]
ChrX:Xq23		 benign|likely benign
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_012282.4(KCNE5):c.20A>G (p.Gln7Arg) single nucleotide variant not specified [RCV004328740] ChrX:109625001 [GRCh38]
ChrX:108868230 [GRCh37]
ChrX:Xq23		 uncertain significance
GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1 copy number loss Xq21.32q23 deletion [RCV001579312] ChrX:91829757..113050225 [GRCh37]
ChrX:Xq21.32-23		 pathogenic
NM_012282.4(KCNE5):c.280C>T (p.Pro94Ser) single nucleotide variant Brugada syndrome [RCV001244766] ChrX:109624741 [GRCh38]
ChrX:108867970 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.277G>T (p.Glu93Ter) single nucleotide variant Brugada syndrome [RCV001212968] ChrX:109624744 [GRCh38]
ChrX:108867973 [GRCh37]
ChrX:Xq23		 uncertain significance
GRCh37/hg19 Xq22.3-23(chrX:108168780-109606201)x0 copy number loss not provided [RCV001537894] ChrX:108168780..109606201 [GRCh37]
ChrX:Xq22.3-23		 pathogenic
NM_012282.4(KCNE5):c.55G>C (p.Glu19Gln) single nucleotide variant Brugada syndrome [RCV001234898] ChrX:109624966 [GRCh38]
ChrX:108868195 [GRCh37]
ChrX:Xq23		 uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28		 pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_012282.4(KCNE5):c.147C>T (p.Arg49=) single nucleotide variant Brugada syndrome [RCV001396448] ChrX:109624874 [GRCh38]
ChrX:108868103 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.349G>A (p.Ala117Thr) single nucleotide variant Brugada syndrome [RCV001361383] ChrX:109624672 [GRCh38]
ChrX:108867901 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.130G>C (p.Asp44His) single nucleotide variant Brugada syndrome [RCV001309022] ChrX:109624891 [GRCh38]
ChrX:108868120 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.304G>A (p.Glu102Lys) single nucleotide variant Brugada syndrome [RCV001359824]|not specified [RCV004036747] ChrX:109624717 [GRCh38]
ChrX:108867946 [GRCh37]
ChrX:Xq23		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_012282.4(KCNE5):c.333C>T (p.Ala111=) single nucleotide variant Brugada syndrome [RCV001521822]|not provided [RCV001762712]|not specified [RCV004037956] ChrX:109624688 [GRCh38]
ChrX:108867917 [GRCh37]
ChrX:Xq23		 benign|likely benign
NM_012282.4(KCNE5):c.49T>C (p.Leu17=) single nucleotide variant Brugada syndrome [RCV001465277] ChrX:109624972 [GRCh38]
ChrX:108868201 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.285C>T (p.Ser95=) single nucleotide variant Brugada syndrome [RCV001499655] ChrX:109624736 [GRCh38]
ChrX:108867965 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.168C>T (p.Gly56=) single nucleotide variant Brugada syndrome [RCV001503660]|not specified [RCV004037445] ChrX:109624853 [GRCh38]
ChrX:108868082 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.33C>T (p.Thr11=) single nucleotide variant Brugada syndrome [RCV001487892] ChrX:109624988 [GRCh38]
ChrX:108868217 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.210C>T (p.Tyr70=) single nucleotide variant Brugada syndrome [RCV001511693]|KCNE5-related disorder [RCV003931053]|not provided [RCV001773757]|not specified [RCV004037919] ChrX:109624811 [GRCh38]
ChrX:108868040 [GRCh37]
ChrX:Xq23		 benign|likely benign
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28		 pathogenic
NM_012282.4(KCNE5):c.-2C>A single nucleotide variant not provided [RCV001769542] ChrX:109625022 [GRCh38]
ChrX:108868251 [GRCh37]
ChrX:Xq23		 likely benign
GRCh37/hg19 Xq22.3-23(chrX:104782507-112949573)x2 copy number gain not provided [RCV001795543] ChrX:104782507..112949573 [GRCh37]
ChrX:Xq22.3-23		 likely pathogenic
NM_012282.4(KCNE5):c.*258C>T single nucleotide variant not provided [RCV001759387] ChrX:109624334 [GRCh38]
ChrX:108867563 [GRCh37]
ChrX:Xq23		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067) copy number gain not specified [RCV002053170] ChrX:103158718..111556067 [GRCh37]
ChrX:Xq22.2-23		 pathogenic
GRCh37/hg19 Xq23(chrX:108739103-109292915) copy number gain not specified [RCV002053173] ChrX:108739103..109292915 [GRCh37]
ChrX:Xq23		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339) copy number gain not specified [RCV002053166] ChrX:101982475..116885339 [GRCh37]
ChrX:Xq22.1-24		 pathogenic
NM_012282.4(KCNE5):c.203TCT[1] (p.Phe69del) microsatellite Brugada syndrome [RCV001914181] ChrX:109624813..109624815 [GRCh38]
ChrX:108868042..108868044 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.262G>A (p.Val88Ile) single nucleotide variant Brugada syndrome [RCV002023371] ChrX:109624759 [GRCh38]
ChrX:108867988 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.397C>T (p.Pro133Ser) single nucleotide variant Brugada syndrome [RCV001994008] ChrX:109624624 [GRCh38]
ChrX:108867853 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.71G>A (p.Gly24Asp) single nucleotide variant Brugada syndrome [RCV001940400] ChrX:109624950 [GRCh38]
ChrX:108868179 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.286C>G (p.Gln96Glu) single nucleotide variant Brugada syndrome [RCV001941481]|not specified [RCV004043182] ChrX:109624735 [GRCh38]
ChrX:108867964 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.281C>G (p.Pro94Arg) single nucleotide variant Brugada syndrome [RCV001866954]|not specified [RCV004039026] ChrX:109624740 [GRCh38]
ChrX:108867969 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.337_338delinsAA (p.Ala113Asn) indel Brugada syndrome [RCV001940178] ChrX:109624683..109624684 [GRCh38]
ChrX:108867912..108867913 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.371G>T (p.Arg124Leu) single nucleotide variant Brugada syndrome [RCV001978053] ChrX:109624650 [GRCh38]
ChrX:108867879 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.179A>G (p.Tyr60Cys) single nucleotide variant Brugada syndrome [RCV001930878] ChrX:109624842 [GRCh38]
ChrX:108868071 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.336C>A (p.Asp112Glu) single nucleotide variant Brugada syndrome [RCV001980995] ChrX:109624685 [GRCh38]
ChrX:108867914 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.297_301del (p.Glu100fs) deletion Brugada syndrome [RCV001975819] ChrX:109624720..109624724 [GRCh38]
ChrX:108867949..108867953 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.329C>A (p.Thr110Asn) single nucleotide variant Brugada syndrome [RCV001904168] ChrX:109624692 [GRCh38]
ChrX:108867921 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.276_277delinsAT (p.Asp92_Glu93delinsGluTer) indel Brugada syndrome [RCV002010893] ChrX:109624744..109624745 [GRCh38]
ChrX:108867973..108867974 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.396G>C (p.Leu132=) single nucleotide variant Brugada syndrome [RCV002112608] ChrX:109624625 [GRCh38]
ChrX:108867854 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.387C>G (p.Ser129=) single nucleotide variant Brugada syndrome [RCV002096530] ChrX:109624634 [GRCh38]
ChrX:108867863 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.315G>A (p.Pro105=) single nucleotide variant Brugada syndrome [RCV002177299] ChrX:109624706 [GRCh38]
ChrX:108867935 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.24G>T (p.Arg8=) single nucleotide variant Brugada syndrome [RCV002084129] ChrX:109624997 [GRCh38]
ChrX:108868226 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.100C>T (p.Arg34Cys) single nucleotide variant Brugada syndrome [RCV003112531] ChrX:109624921 [GRCh38]
ChrX:108868150 [GRCh37]
ChrX:Xq23		 uncertain significance
NC_000023.10:g.(?_108867821)_(108868249_?)del deletion Brugada syndrome [RCV003116583] ChrX:108867821..108868249 [GRCh37]
ChrX:Xq23		 uncertain significance
NC_000023.10:g.(?_106046084)_(108868249_?)del deletion Charcot-Marie-Tooth Neuropathy X [RCV003122615] ChrX:106046084..108868249 [GRCh37]
ChrX:Xq22.3-23		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3 copy number gain not provided [RCV002291535] ChrX:76794355..119282836 [GRCh37]
ChrX:Xq21.1-24		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_012282.4(KCNE5):c.70G>C (p.Gly24Arg) single nucleotide variant not specified [RCV004055258] ChrX:109624951 [GRCh38]
ChrX:108868180 [GRCh37]
ChrX:Xq23		 uncertain significance
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1 copy number loss not provided [RCV002474518] ChrX:93805850..118913329 [GRCh37]
ChrX:Xq21.33-24		 pathogenic
NM_012282.4(KCNE5):c.159C>A (p.Ser53Arg) single nucleotide variant not specified [RCV004057398] ChrX:109624862 [GRCh38]
ChrX:108868091 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.423G>A (p.Arg141=) single nucleotide variant not specified [RCV004051952] ChrX:109624598 [GRCh38]
ChrX:108867827 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.265G>A (p.Glu89Lys) single nucleotide variant Brugada syndrome [RCV002993878] ChrX:109624756 [GRCh38]
ChrX:108867985 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.64C>T (p.His22Tyr) single nucleotide variant Brugada syndrome [RCV002695944] ChrX:109624957 [GRCh38]
ChrX:108868186 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.223G>A (p.Gly75Arg) single nucleotide variant not specified [RCV004191866] ChrX:109624798 [GRCh38]
ChrX:108868027 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.139G>C (p.Val47Leu) single nucleotide variant Brugada syndrome [RCV002805419]|not specified [RCV004632073] ChrX:109624882 [GRCh38]
ChrX:108868111 [GRCh37]
ChrX:Xq23		 likely benign|uncertain significance
NM_012282.4(KCNE5):c.327G>C (p.Leu109=) single nucleotide variant Brugada syndrome [RCV002624285]|not specified [RCV004070763] ChrX:109624694 [GRCh38]
ChrX:108867923 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.186C>T (p.Tyr62=) single nucleotide variant Brugada syndrome [RCV002624608] ChrX:109624835 [GRCh38]
ChrX:108868064 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.264C>T (p.Val88=) single nucleotide variant Brugada syndrome [RCV002982447] ChrX:109624757 [GRCh38]
ChrX:108867986 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.358C>T (p.Gln120Ter) single nucleotide variant Brugada syndrome [RCV002890272]|KCNE5-related disorder [RCV003898563]|not provided [RCV003491159] ChrX:109624663 [GRCh38]
ChrX:108867892 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.374G>A (p.Arg125His) single nucleotide variant Brugada syndrome [RCV002593914] ChrX:109624647 [GRCh38]
ChrX:108867876 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.61C>T (p.His21Tyr) single nucleotide variant not specified [RCV004171477] ChrX:109624960 [GRCh38]
ChrX:108868189 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.351G>A (p.Ala117=) single nucleotide variant Brugada syndrome [RCV002895249] ChrX:109624670 [GRCh38]
ChrX:108867899 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.339C>T (p.Ala113=) single nucleotide variant Brugada syndrome [RCV002716598]|not specified [RCV004067732] ChrX:109624682 [GRCh38]
ChrX:108867911 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.410A>G (p.Gln137Arg) single nucleotide variant not specified [RCV004133596] ChrX:109624611 [GRCh38]
ChrX:108867840 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.330C>T (p.Thr110=) single nucleotide variant not specified [RCV004247738] ChrX:109624691 [GRCh38]
ChrX:108867920 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.346G>T (p.Ala116Ser) single nucleotide variant not specified [RCV004247739] ChrX:109624675 [GRCh38]
ChrX:108867904 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.256A>G (p.Lys86Glu) single nucleotide variant not specified [RCV004271770] ChrX:109624765 [GRCh38]
ChrX:108867994 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.401C>A (p.Ala134Asp) single nucleotide variant not specified [RCV004343118] ChrX:109624620 [GRCh38]
ChrX:108867849 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.403C>G (p.Leu135Val) single nucleotide variant not specified [RCV004362622] ChrX:109624618 [GRCh38]
ChrX:108867847 [GRCh37]
ChrX:Xq23		 uncertain significance
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1 copy number loss not provided [RCV003483927] ChrX:91274467..126799984 [GRCh37]
ChrX:Xq21.31-25		 pathogenic
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3 copy number gain not provided [RCV003485304] ChrX:77212972..118576590 [GRCh37]
ChrX:Xq21.1-24		 pathogenic
NM_012282.4(KCNE5):c.81C>T (p.Ser27=) single nucleotide variant Brugada syndrome [RCV003829180]|not specified [RCV004366805] ChrX:109624940 [GRCh38]
ChrX:108868169 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.79A>G (p.Ser27Gly) single nucleotide variant Brugada syndrome [RCV003654612] ChrX:109624942 [GRCh38]
ChrX:108868171 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.135T>C (p.Pro45=) single nucleotide variant Brugada syndrome [RCV003654841] ChrX:109624886 [GRCh38]
ChrX:108868115 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.322G>A (p.Ala108Thr) single nucleotide variant Brugada syndrome [RCV003654628] ChrX:109624699 [GRCh38]
ChrX:108867928 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.124G>A (p.Val42Met) single nucleotide variant Brugada syndrome [RCV003817306] ChrX:109624897 [GRCh38]
ChrX:108868126 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.227G>A (p.Gly76Asp) single nucleotide variant Brugada syndrome [RCV003655677] ChrX:109624794 [GRCh38]
ChrX:108868023 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.13del (p.Glu5fs) deletion Brugada syndrome [RCV003655788] ChrX:109625008 [GRCh38]
ChrX:108868237 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.203T>C (p.Ile68Thr) single nucleotide variant Brugada syndrome [RCV003655511] ChrX:109624818 [GRCh38]
ChrX:108868047 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.283T>C (p.Ser95Pro) single nucleotide variant Brugada syndrome [RCV003540125] ChrX:109624738 [GRCh38]
ChrX:108867967 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.193C>T (p.Leu65Phe) single nucleotide variant Brugada syndrome [RCV003540168] ChrX:109624828 [GRCh38]
ChrX:108868057 [GRCh37]
ChrX:Xq23		 uncertain significance
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) copy number loss not specified [RCV003986202] ChrX:103405294..155233731 [GRCh37]
ChrX:Xq22.2-28		 pathogenic
NM_012282.4(KCNE5):c.29G>T (p.Arg10Leu) single nucleotide variant Brugada syndrome [RCV003540246] ChrX:109624992 [GRCh38]
ChrX:108868221 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.54C>T (p.Leu18=) single nucleotide variant Brugada syndrome [RCV003540104]|not specified [RCV004369230] ChrX:109624967 [GRCh38]
ChrX:108868196 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.66C>T (p.His22=) single nucleotide variant not specified [RCV004519457] ChrX:109624955 [GRCh38]
ChrX:108868184 [GRCh37]
ChrX:Xq23		 likely benign
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
NM_012282.4(KCNE5):c.15G>C (p.Glu5Asp) single nucleotide variant not specified [RCV004406039] ChrX:109625006 [GRCh38]
ChrX:108868235 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.202A>G (p.Ile68Val) single nucleotide variant not specified [RCV004406041] ChrX:109624819 [GRCh38]
ChrX:108868048 [GRCh37]
ChrX:Xq23		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NM_012282.4(KCNE5):c.28C>A (p.Arg10=) single nucleotide variant not specified [RCV004636082] ChrX:109624993 [GRCh38]
ChrX:108868222 [GRCh37]
ChrX:Xq23		 likely benign
NM_012282.4(KCNE5):c.143G>T (p.Gly48Val) single nucleotide variant not provided [RCV004697701] ChrX:109624878 [GRCh38]
ChrX:108868107 [GRCh37]
ChrX:Xq23		 uncertain significance
NM_012282.4(KCNE5):c.205T>G (p.Phe69Val) single nucleotide variant not specified [RCV004636083] ChrX:109624816 [GRCh38]
ChrX:108868045 [GRCh37]
ChrX:Xq23		 uncertain significance
NC_000023.10:g.(?_54610638)_(154689386_?)dup duplication Hereditary factor VIII deficiency disease [RCV004768478] ChrX:54610638..154689386 [GRCh37]
ChrX:Xp11.22-q28		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1468
Count of miRNA genes:667
Interacting mature miRNAs:749
Transcripts:ENST00000372101
Prediction methods:Microtar, Miranda, Pita, 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.

Markers in Region
WI-17685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X108,867,064 - 108,867,193UniSTSGRCh37
Build 36X108,753,720 - 108,753,849RGDNCBI36
CeleraX109,346,702 - 109,346,831RGD
Cytogenetic MapXq22.3UniSTS
HuRefX98,490,065 - 98,490,194UniSTS
GeneMap99-GB4 RH MapX287.52UniSTS
Whitehead-RH MapX268.2UniSTS
NCBI RH MapX561.2UniSTS
KCNE1L_456.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X108,866,785 - 108,867,592UniSTSGRCh37
Build 36X108,753,441 - 108,754,248RGDNCBI36
CeleraX109,346,423 - 109,347,230RGD
HuRefX98,489,786 - 98,490,593UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1198 2230 2629 2173 4812 1570 2145 5 541 1876 400 2103 6941 6293 49 3699 1 786 1692 1484 157 1

Sequence


Ensembl Acc Id: ENST00000372101   ⟹   ENSP00000361173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX109,623,700 - 109,625,172 (-)Ensembl
RefSeq Acc Id: NM_012282   ⟹   NP_036414
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X109,623,700 - 109,625,172 (-)NCBI
GRCh37X108,866,929 - 108,868,393 (-)RGD
Build 36X108,753,585 - 108,755,049 (-)NCBI Archive
CeleraX109,346,567 - 109,348,031 (-)RGD
HuRefX98,489,930 - 98,491,217 (-)ENTREZGENE
CHM1_1X108,778,194 - 108,779,658 (-)NCBI
T2T-CHM13v2.0X108,071,490 - 108,072,962 (-)NCBI
Sequence:
RefSeq Acc Id: NP_036414   ⟸   NM_012282
- UniProtKB: Q5JWV7 (UniProtKB/Swiss-Prot),   Q9UJ90 (UniProtKB/Swiss-Prot),   Q53FI0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000361173   ⟸   ENST00000372101

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UJ90-F1-model_v2 AlphaFold Q9UJ90 1-142 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6241 AgrOrtholog
COSMIC KCNE5 COSMIC
Ensembl Genes ENSG00000176076 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000372101 ENTREZGENE
  ENST00000372101.3 UniProtKB/Swiss-Prot
GTEx ENSG00000176076 GTEx
HGNC ID HGNC:6241 ENTREZGENE
Human Proteome Map KCNE5 Human Proteome Map
InterPro K_chnl_KCNE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23630 UniProtKB/Swiss-Prot
NCBI Gene 23630 ENTREZGENE
OMIM 300328 OMIM
PANTHER POTASSIUM VOLTAGE-GATED CHANNEL SUBFAMILY E REGULATORY BETA SUBUNIT 5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15282 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ISK_Channel UniProtKB/TrEMBL
PharmGKB PA30031 PharmGKB
UniProt KCNE5_HUMAN UniProtKB/Swiss-Prot
  Q2N1H9_HUMAN UniProtKB/TrEMBL
  Q53FI0 ENTREZGENE, UniProtKB/TrEMBL
  Q5JWV7 ENTREZGENE
  Q9UJ90 ENTREZGENE
UniProt Secondary Q5JWV7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNE5  potassium voltage-gated channel subfamily E regulatory subunit 5  KCNE5  potassium channel, voltage gated subfamily E regulatory beta subunit 5  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNE5  potassium channel, voltage gated subfamily E regulatory beta subunit 5  KCNE1L  KCNE1-like  Symbol and/or name change 5135510 APPROVED