KCNH5 (potassium voltage-gated channel subfamily H member 5) - Rat Genome Database

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Gene: KCNH5 (potassium voltage-gated channel subfamily H member 5) Homo sapiens
Analyze
Symbol: KCNH5
Name: potassium voltage-gated channel subfamily H member 5
RGD ID: 731415
HGNC Page HGNC:6254
Description: Enables delayed rectifier potassium channel activity. Involved in potassium ion transport. Acts upstream of or within regulation of G2/M transition of mitotic cell cycle. Located in cell surface. Part of voltage-gated potassium channel complex. Implicated in developmental and epileptic encephalopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DEE112; EAG2; ether-a-go-go 2; ether-a-go-go potassium channel 2; ether-a-go-go-related potassium channel 2; H-EAG2; hEAG2; Kv10.2; potassium channel HEAG2; potassium channel, voltage gated eag related subfamily H, member 5; potassium voltage-gated channel, subfamily H (eag-related), member 5; voltage-gated delayed rectifier potassium channel KCNH5; voltage-gated potassium channel EAG2; voltage-gated potassium channel subunit Kv10.2
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
GRCh381462,699,464 - 63,045,458 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1462,699,464 - 63,102,037 (-)EnsemblGRCh38hg38GRCh38
GRCh371463,166,182 - 63,512,176 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361462,243,698 - 62,638,337 (-)NCBINCBI36Build 36hg18NCBI36
Build 341462,248,710 - 62,638,337NCBI
Celera1443,224,258 - 43,619,167 (-)NCBICelera
Cytogenetic Map14q23.2NCBI
HuRef1443,338,760 - 43,678,420 (-)NCBIHuRef
CHM1_11463,112,492 - 63,451,134 (-)NCBICHM1_1
T2T-CHM13v2.01456,906,444 - 57,253,090 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10524757   PMID:11943152   PMID:12135768   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16303743   PMID:16382104   PMID:18349282   PMID:18458804   PMID:19172261   PMID:19850283  
PMID:20379614   PMID:20800603   PMID:21873635   PMID:22589738   PMID:22792721   PMID:22855790   PMID:23377640   PMID:23647072   PMID:24133262   PMID:24348519   PMID:24759919   PMID:25293881  
PMID:25542181   PMID:26258683   PMID:26503718   PMID:29987050   PMID:30021884   PMID:32097463   PMID:33833419   PMID:34857952   PMID:36068614   PMID:36307226   PMID:36928654   PMID:37468549  


Genomics

Comparative Map Data
KCNH5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381462,699,464 - 63,045,458 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1462,699,464 - 63,102,037 (-)EnsemblGRCh38hg38GRCh38
GRCh371463,166,182 - 63,512,176 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361462,243,698 - 62,638,337 (-)NCBINCBI36Build 36hg18NCBI36
Build 341462,248,710 - 62,638,337NCBI
Celera1443,224,258 - 43,619,167 (-)NCBICelera
Cytogenetic Map14q23.2NCBI
HuRef1443,338,760 - 43,678,420 (-)NCBIHuRef
CHM1_11463,112,492 - 63,451,134 (-)NCBICHM1_1
T2T-CHM13v2.01456,906,444 - 57,253,090 (-)NCBIT2T-CHM13v2.0
Kcnh5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391274,943,991 - 75,224,625 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1274,943,994 - 75,224,106 (-)EnsemblGRCm39 Ensembl
GRCm381274,897,217 - 75,177,332 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1274,897,220 - 75,177,332 (-)EnsemblGRCm38mm10GRCm38
MGSCv371275,998,204 - 76,278,319 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361275,816,060 - 76,096,172 (-)NCBIMGSCv36mm8
Celera1275,988,289 - 76,268,710 (-)NCBICelera
Cytogenetic Map12C3NCBI
cM Map1232.62NCBI
Kcnh5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8699,350,947 - 99,643,856 (-)NCBIGRCr8
mRatBN7.2693,615,174 - 93,908,107 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl693,624,529 - 93,908,107 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx694,022,247 - 94,304,742 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0694,320,761 - 94,603,257 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0693,749,598 - 94,032,105 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0697,872,831 - 98,157,087 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl697,872,831 - 98,157,087 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06107,294,666 - 107,578,241 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4697,484,188 - 97,772,082 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1697,487,643 - 97,775,538 (-)NCBI
Celera692,059,360 - 92,339,391 (-)NCBICelera
Cytogenetic Map6q24NCBI
Kcnh5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554666,704,364 - 7,040,734 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554666,704,431 - 7,042,727 (+)NCBIChiLan1.0ChiLan1.0
KCNH5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21563,827,105 - 64,163,258 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11463,043,619 - 63,379,775 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01443,297,114 - 43,633,275 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11461,560,591 - 61,889,137 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1461,560,600 - 61,889,137 (-)Ensemblpanpan1.1panPan2
KCNH5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1837,429,677 - 37,710,409 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl837,434,922 - 37,710,330 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha837,191,479 - 37,467,676 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0837,663,234 - 37,937,001 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl837,666,227 - 37,936,864 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1837,271,557 - 37,554,004 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0837,357,200 - 37,633,582 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0837,713,171 - 37,986,803 (-)NCBIUU_Cfam_GSD_1.0
Kcnh5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864067,223,309 - 67,517,223 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364956,685,238 - 6,967,591 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364956,685,220 - 6,967,921 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNH5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1194,966,334 - 195,259,068 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11194,965,696 - 195,264,046 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
KCNH5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12439,856,837 - 40,206,607 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605328,091,424 - 28,430,148 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnh5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473437,990,890 - 38,381,306 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473437,990,840 - 38,387,580 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNH5
699 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_139318.5(KCNH5):c.810C>T (p.Phe270=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000546523]|KCNH5-related disorder [RCV004757243]|not provided [RCV004704056] Chr14:62981004 [GRCh38]
Chr14:63447722 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.733A>G (p.Ile245Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000542290]|Inborn genetic diseases [RCV003159791] Chr14:62981081 [GRCh38]
Chr14:63447799 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.2632G>A (p.Ala878Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000548241] Chr14:62707843 [GRCh38]
Chr14:63174561 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.1719C>T (p.Pro573=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001450121] Chr14:62802432 [GRCh38]
Chr14:63269150 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2280C>T (p.Pro760=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000550850] Chr14:62708195 [GRCh38]
Chr14:63174913 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2884C>T (p.Pro962Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000528893] Chr14:62707591 [GRCh38]
Chr14:63174309 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1003G>A (p.Ala335Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000545767]|Inborn genetic diseases [RCV004984954] Chr14:62950499 [GRCh38]
Chr14:63417217 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2515C>T (p.Leu839=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000526979] Chr14:62707960 [GRCh38]
Chr14:63174678 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.550G>A (p.Val184Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000525155] Chr14:62981264 [GRCh38]
Chr14:63447982 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.980G>A (p.Arg327His) single nucleotide variant Developmental and epileptic encephalopathy 112 [RCV003448263]|Developmental and epileptic encephalopathy, 12 [RCV003334350]|Early infantile epileptic encephalopathy with suppression bursts [RCV000701370]|Inborn genetic diseases [RCV003162518]|not provided [RCV000087147] Chr14:62950522 [GRCh38]
Chr14:63417240 [GRCh37]
Chr14:14q23.2		 pathogenic|uncertain significance
GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1 copy number loss See cases [RCV000050892] Chr14:59917051..66750803 [GRCh38]
Chr14:60383769..67217521 [GRCh37]
Chr14:59453522..66287274 [NCBI36]
Chr14:14q23.1-23.3		 pathogenic
GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1 copy number loss See cases [RCV000051521] Chr14:57041036..67208231 [GRCh38]
Chr14:57507754..67674948 [GRCh37]
Chr14:56577507..66744701 [NCBI36]
Chr14:14q22.3-23.3		 pathogenic
NM_139318.4(KCNH5):c.1591G>A (p.Asp531Asn) single nucleotide variant Malignant melanoma [RCV000070565] Chr14:62802560 [GRCh38]
Chr14:63269278 [GRCh37]
Chr14:62339031 [NCBI36]
Chr14:14q23.2		 not provided
NM_139318.4(KCNH5):c.1369+50C>T single nucleotide variant Malignant melanoma [RCV000070566] Chr14:62950083 [GRCh38]
Chr14:63416801 [GRCh37]
Chr14:62486554 [NCBI36]
Chr14:14q23.2		 not provided
NM_139318.4(KCNH5):c.886G>A (p.Asp296Asn) single nucleotide variant Malignant melanoma [RCV000070567] Chr14:62980928 [GRCh38]
Chr14:63447646 [GRCh37]
Chr14:62517399 [NCBI36]
Chr14:14q23.2		 not provided
NM_139318.4(KCNH5):c.1824G>A (p.Gly608=) single nucleotide variant Malignant melanoma [RCV000062771] Chr14:62779923 [GRCh38]
Chr14:63246641 [GRCh37]
Chr14:62316394 [NCBI36]
Chr14:14q23.2		 not provided
NM_139318.4(KCNH5):c.1008G>A (p.Arg336=) single nucleotide variant Malignant melanoma [RCV000062772] Chr14:62950494 [GRCh38]
Chr14:63417212 [GRCh37]
Chr14:62486965 [NCBI36]
Chr14:14q23.2		 not provided
NM_139318.4(KCNH5):c.804G>A (p.Thr268=) single nucleotide variant Malignant melanoma [RCV000062773] Chr14:62981010 [GRCh38]
Chr14:63447728 [GRCh37]
Chr14:62517481 [NCBI36]
Chr14:14q23.2		 not provided
NM_139318.5(KCNH5):c.479G>A (p.Arg160Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002780169] Chr14:62987142 [GRCh38]
Chr14:63453860 [GRCh37]
Chr14:62523613 [NCBI36]
Chr14:14q23.2		 uncertain significance|not provided
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1 copy number loss See cases [RCV000138348] Chr14:57653413..64093528 [GRCh38]
Chr14:58120131..64560246 [GRCh37]
Chr14:57189884..63629999 [NCBI36]
Chr14:14q23.1-23.2		 pathogenic
GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1 copy number loss See cases [RCV000138250] Chr14:62252700..65753416 [GRCh38]
Chr14:62719418..66220134 [GRCh37]
Chr14:61789171..65289887 [NCBI36]
Chr14:14q23.2-23.3		 pathogenic
GRCh38/hg38 14q23.2(chr14:62330001-63219846)x3 copy number gain See cases [RCV000140165] Chr14:62330001..63219846 [GRCh38]
Chr14:62796719..63686564 [GRCh37]
Chr14:61866472..62756317 [NCBI36]
Chr14:14q23.2		 likely benign|uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q23.2(chr14:62848375-63094121)x1 copy number loss See cases [RCV000143560] Chr14:62848375..63094121 [GRCh38]
Chr14:63315093..63560839 [GRCh37]
Chr14:62384846..62630592 [NCBI36]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.550-9C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002054267]|not specified [RCV000192806] Chr14:62981273 [GRCh38]
Chr14:63447991 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.198-10del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000230571] Chr14:63006482 [GRCh38]
Chr14:63473200 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.2890C>A (p.Gln964Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000234571] Chr14:62707585 [GRCh38]
Chr14:63174303 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.522G>C (p.Val174=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000554094] Chr14:62987099 [GRCh38]
Chr14:63453817 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1620A>G (p.Leu540=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000550080] Chr14:62802531 [GRCh38]
Chr14:63269249 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.766G>A (p.Val256Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000554901] Chr14:62981048 [GRCh38]
Chr14:63447766 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.198-3del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000533689] Chr14:63006475 [GRCh38]
Chr14:63473193 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.775C>T (p.Leu259=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000531051]|not provided [RCV004715262] Chr14:62981039 [GRCh38]
Chr14:63447757 [GRCh37]
Chr14:14q23.2		 benign
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 pathogenic
NM_139318.5(KCNH5):c.1098A>G (p.Ile366Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000462706]|KCNH5-related disorder [RCV003960099]|not provided [RCV004715237] Chr14:62950404 [GRCh38]
Chr14:63417122 [GRCh37]
Chr14:14q23.2		 benign|likely benign
NM_139318.5(KCNH5):c.1812G>A (p.Val604=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001472317] Chr14:62802339 [GRCh38]
Chr14:63269057 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1369+7A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000463785]|KCNH5-related disorder [RCV003915311]|not specified [RCV001821367] Chr14:62950126 [GRCh38]
Chr14:63416844 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.2114C>G (p.Pro705Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000475118] Chr14:62708361 [GRCh38]
Chr14:63175079 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.171C>T (p.Asp57=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000456732] Chr14:63016857 [GRCh38]
Chr14:63483575 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1569+7G>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001407270] Chr14:62849646 [GRCh38]
Chr14:63316364 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1935C>G (p.Ala645=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001447824] Chr14:62779812 [GRCh38]
Chr14:63246530 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.147A>G (p.Lys49=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000457834] Chr14:63016881 [GRCh38]
Chr14:63483599 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2097C>A (p.Ser699Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000468994]|Inborn genetic diseases [RCV002525582] Chr14:62708378 [GRCh38]
Chr14:63175096 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.528T>C (p.His176=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000469323] Chr14:62987093 [GRCh38]
Chr14:63453811 [GRCh37]
Chr14:14q23.2		 likely benign
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_139318.5(KCNH5):c.1680C>A (p.Arg560=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000458334]|KCNH5-related disorder [RCV003972794]|not provided [RCV004716509] Chr14:62802471 [GRCh38]
Chr14:63269189 [GRCh37]
Chr14:14q23.2		 benign|likely benign
NM_139318.5(KCNH5):c.819C>T (p.Pro273=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000462276] Chr14:62980995 [GRCh38]
Chr14:63447713 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.1302A>C (p.Gly434=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001431809] Chr14:62950200 [GRCh38]
Chr14:63416918 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2088G>A (p.Val696=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000469983]|KCNH5-related disorder [RCV003972795]|not provided [RCV004716510] Chr14:62708387 [GRCh38]
Chr14:63175105 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.2315A>G (p.Glu772Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000477550]|not provided [RCV004716508] Chr14:62708160 [GRCh38]
Chr14:63174878 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.2309C>A (p.Thr770Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005091098]|not specified [RCV000504152] Chr14:62708166 [GRCh38]
Chr14:63174884 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.351A>G (p.Glu117=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636494]|not specified [RCV000502691] Chr14:63001413 [GRCh38]
Chr14:63468131 [GRCh37]
Chr14:14q23.2		 benign|likely benign
NM_139318.5(KCNH5):c.787G>A (p.Val263Ile) single nucleotide variant Developmental and epileptic encephalopathy 112 [RCV004799226]|Early infantile epileptic encephalopathy with suppression bursts [RCV000636352] Chr14:62981027 [GRCh38]
Chr14:63447745 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.589C>T (p.Gln197Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636372] Chr14:62981225 [GRCh38]
Chr14:63447943 [GRCh37]
Chr14:14q23.2		 drug response|uncertain significance
NM_139318.5(KCNH5):c.1658T>C (p.Leu553Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636375] Chr14:62802493 [GRCh38]
Chr14:63269211 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2438G>A (p.Arg813Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636406] Chr14:62708037 [GRCh38]
Chr14:63174755 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2706C>T (p.Pro902=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636457] Chr14:62707769 [GRCh38]
Chr14:63174487 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1557T>C (p.Ile519=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002528885] Chr14:62849665 [GRCh38]
Chr14:63316383 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.264C>T (p.Tyr88=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636495] Chr14:63006406 [GRCh38]
Chr14:63473124 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2577= (p.Arg859=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000533147] Chr14:62707898 [GRCh38]
Chr14:63174616 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.2706C>G (p.Pro902=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001427739] Chr14:62707769 [GRCh38]
Chr14:63174487 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2652G>A (p.Pro884=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636539] Chr14:62707823 [GRCh38]
Chr14:63174541 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.2365G>T (p.Gly789Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636550]|Inborn genetic diseases [RCV004629264] Chr14:62708110 [GRCh38]
Chr14:63174828 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.1887C>T (p.Asn629=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636591] Chr14:62779860 [GRCh38]
Chr14:63246578 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.198-17dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV000558069] Chr14:63006481..63006482 [GRCh38]
Chr14:63473199..63473200 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.1137C>T (p.Val379=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001397040] Chr14:62950365 [GRCh38]
Chr14:63417083 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2817A>T (p.Leu939Phe) single nucleotide variant Inborn genetic diseases [RCV003292732] Chr14:62707658 [GRCh38]
Chr14:63174376 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2812A>G (p.Ile938Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636313] Chr14:62707663 [GRCh38]
Chr14:63174381 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.611C>T (p.Pro204Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636314] Chr14:62981203 [GRCh38]
Chr14:63447921 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2236T>C (p.Ser746Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636322] Chr14:62708239 [GRCh38]
Chr14:63174957 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.305-6T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000541501] Chr14:63001465 [GRCh38]
Chr14:63468183 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1339A>G (p.Met447Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000537445]|Inborn genetic diseases [RCV004023853] Chr14:62950163 [GRCh38]
Chr14:63416881 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2628T>C (p.Asp876=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000535047] Chr14:62707847 [GRCh38]
Chr14:63174565 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2828C>T (p.Ser943Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636271] Chr14:62707647 [GRCh38]
Chr14:63174365 [GRCh37]
Chr14:14q23.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_139318.5(KCNH5):c.460C>T (p.Arg154Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636426] Chr14:62987161 [GRCh38]
Chr14:63453879 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1239C>G (p.Pro413=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636453] Chr14:62950263 [GRCh38]
Chr14:63416981 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2826G>C (p.Leu942=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636469]|not provided [RCV004715320] Chr14:62707649 [GRCh38]
Chr14:63174367 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.2103C>T (p.Pro701=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636600] Chr14:62708372 [GRCh38]
Chr14:63175090 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2532C>T (p.Pro844=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636612] Chr14:62707943 [GRCh38]
Chr14:63174661 [GRCh37]
Chr14:14q23.2		 likely benign
NC_000014.8:g.(?_63511812)_(63511924_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV000636627] Chr14:63045094..63045206 [GRCh38]
Chr14:63511812..63511924 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2953G>T (p.Glu985Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636606]|not provided [RCV004705739] Chr14:62707522 [GRCh38]
Chr14:63174240 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2951A>T (p.Asp984Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000698312] Chr14:62707524 [GRCh38]
Chr14:63174242 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2372A>G (p.Asp791Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000701566] Chr14:62708103 [GRCh38]
Chr14:63174821 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2095A>G (p.Ser699Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000690325] Chr14:62708380 [GRCh38]
Chr14:63175098 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.500C>T (p.Thr167Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000690387] Chr14:62987121 [GRCh38]
Chr14:63453839 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2890C>G (p.Gln964Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000689279] Chr14:62707585 [GRCh38]
Chr14:63174303 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2833A>G (p.Lys945Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000697261] Chr14:62707642 [GRCh38]
Chr14:63174360 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.932dup (p.Asn311fs) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV000697275] Chr14:62980881..62980882 [GRCh38]
Chr14:63447599..63447600 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.265G>C (p.Glu89Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000706580] Chr14:63006405 [GRCh38]
Chr14:63473123 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1847T>A (p.Ile616Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000705633] Chr14:62779900 [GRCh38]
Chr14:63246618 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.2782A>G (p.Met928Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000705748] Chr14:62707693 [GRCh38]
Chr14:63174411 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1346C>T (p.Ser449Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000694323] Chr14:62950156 [GRCh38]
Chr14:63416874 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.736G>T (p.Ala246Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000697032]|Inborn genetic diseases [RCV004629304] Chr14:62981078 [GRCh38]
Chr14:63447796 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q23.2(chr14:63188086-63198572)x1 copy number loss not provided [RCV000751031] Chr14:63188086..63198572 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.549+17T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002071956]|not provided [RCV001540872] Chr14:62987055 [GRCh38]
Chr14:63453773 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.606G>A (p.Thr202=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000866782] Chr14:62981208 [GRCh38]
Chr14:63447926 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.213A>G (p.Glu71=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005092797] Chr14:63006457 [GRCh38]
Chr14:63473175 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.244A>C (p.Arg82=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000926874] Chr14:63006426 [GRCh38]
Chr14:63473144 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.174C>T (p.Val58=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001480019] Chr14:63016854 [GRCh38]
Chr14:63483572 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1884G>A (p.Ala628=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000868002] Chr14:62779863 [GRCh38]
Chr14:63246581 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1272C>T (p.Tyr424=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000946368] Chr14:62950230 [GRCh38]
Chr14:63416948 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.198-10T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000868398] Chr14:63006482 [GRCh38]
Chr14:63473200 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2072G>A (p.Arg691Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001049123] Chr14:62708403 [GRCh38]
Chr14:63175121 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2644C>T (p.Arg882Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001056803] Chr14:62707831 [GRCh38]
Chr14:63174549 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.1865C>T (p.Thr622Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001039764] Chr14:62779882 [GRCh38]
Chr14:63246600 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2591G>A (p.Cys864Tyr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000807829] Chr14:62707884 [GRCh38]
Chr14:63174602 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.501G>A (p.Thr167=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000866062] Chr14:62987120 [GRCh38]
Chr14:63453838 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.1110C>T (p.Ile370=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001482703] Chr14:62950392 [GRCh38]
Chr14:63417110 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1257C>T (p.Tyr419=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001486555]|KCNH5-related disorder [RCV004757295] Chr14:62950245 [GRCh38]
Chr14:63416963 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2841A>C (p.Val947=) single nucleotide variant not provided [RCV000943364] Chr14:62707634 [GRCh38]
Chr14:63174352 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2364C>T (p.Gly788=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000869308] Chr14:62708111 [GRCh38]
Chr14:63174829 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.515C>G (p.Thr172Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000865513]|Inborn genetic diseases [RCV002536278]|not provided [RCV004705818] Chr14:62987106 [GRCh38]
Chr14:63453824 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.195C>T (p.Cys65=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000862626] Chr14:63016833 [GRCh38]
Chr14:63483551 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.1395A>C (p.Gly465=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000861128] Chr14:62849827 [GRCh38]
Chr14:63316545 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1902G>A (p.Thr634=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001466602] Chr14:62779845 [GRCh38]
Chr14:63246563 [GRCh37]
Chr14:14q23.2		 likely benign
GRCh37/hg19 14q23.1-23.2(chr14:61126208-63517651)x3 copy number gain not provided [RCV000845699] Chr14:61126208..63517651 [GRCh37]
Chr14:14q23.1-23.2		 uncertain significance
NM_139318.5(KCNH5):c.2534A>G (p.Lys845Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000802693] Chr14:62707941 [GRCh38]
Chr14:63174659 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.820G>A (p.Gly274Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000801147] Chr14:62980994 [GRCh38]
Chr14:63447712 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1579A>T (p.Ile527Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000815311]|not provided [RCV001420591] Chr14:62802572 [GRCh38]
Chr14:63269290 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.2585A>G (p.Asp862Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000822398] Chr14:62707890 [GRCh38]
Chr14:63174608 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.566C>G (p.Ser189Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000809735] Chr14:62981248 [GRCh38]
Chr14:63447966 [GRCh37]
Chr14:14q23.2		 uncertain significance
GRCh37/hg19 14q23.2(chr14:63408187-63435283)x1 copy number loss not provided [RCV000849465] Chr14:63408187..63435283 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2890dup (p.Gln964fs) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV000818922] Chr14:62707584..62707585 [GRCh38]
Chr14:63174302..63174303 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
GRCh37/hg19 14q23.2(chr14:63500586-63796306)x3 copy number gain not provided [RCV000847842] Chr14:63500586..63796306 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2365G>A (p.Gly789Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000804107] Chr14:62708110 [GRCh38]
Chr14:63174828 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.2341G>A (p.Ala781Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000795301] Chr14:62708134 [GRCh38]
Chr14:63174852 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.440C>T (p.Thr147Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001066718]|Inborn genetic diseases [RCV002554501] Chr14:62987181 [GRCh38]
Chr14:63453899 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2159G>A (p.Arg720Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000815453] Chr14:62708316 [GRCh38]
Chr14:63175034 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2557G>A (p.Val853Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000823521] Chr14:62707918 [GRCh38]
Chr14:63174636 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
GRCh37/hg19 14q23.2(chr14:63500586-63796306)x3 copy number gain not provided [RCV000846702] Chr14:63500586..63796306 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2075A>G (p.Gln692Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001231102] Chr14:62708400 [GRCh38]
Chr14:63175118 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.1792A>G (p.Ile598Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001203513] Chr14:62802359 [GRCh38]
Chr14:63269077 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1927C>G (p.Arg643Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001240033] Chr14:62779820 [GRCh38]
Chr14:63246538 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1120G>A (p.Glu374Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001209979] Chr14:62950382 [GRCh38]
Chr14:63417100 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.2420A>G (p.Asn807Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001221666] Chr14:62708055 [GRCh38]
Chr14:63174773 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2382T>G (p.Cys794Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001226073] Chr14:62708093 [GRCh38]
Chr14:63174811 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.542T>C (p.Leu181Pro) single nucleotide variant not provided [RCV004786174] Chr14:62987079 [GRCh38]
Chr14:63453797 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2667C>T (p.Pro889=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000895692] Chr14:62707808 [GRCh38]
Chr14:63174526 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1347G>A (p.Ser449=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001501297] Chr14:62950155 [GRCh38]
Chr14:63416873 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2064G>A (p.Glu688=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000940951] Chr14:62708411 [GRCh38]
Chr14:63175129 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2244C>T (p.Thr748=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001458161] Chr14:62708231 [GRCh38]
Chr14:63174949 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2730G>A (p.Leu910=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000927586] Chr14:62707745 [GRCh38]
Chr14:63174463 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1329T>C (p.Asp443=) single nucleotide variant not provided [RCV000888014] Chr14:62950173 [GRCh38]
Chr14:63416891 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.399G>A (p.Leu133=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001473194] Chr14:63001365 [GRCh38]
Chr14:63468083 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.975G>T (p.Val325=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002065471] Chr14:62950527 [GRCh38]
Chr14:63417245 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.753T>C (p.Asp251=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000909575] Chr14:62981061 [GRCh38]
Chr14:63447779 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.261C>T (p.Asn87=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000862049] Chr14:63006409 [GRCh38]
Chr14:63473127 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1220G>C (p.Gly407Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001222369] Chr14:62950282 [GRCh38]
Chr14:63417000 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.15G>C (p.Lys5Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001220552] Chr14:63045172 [GRCh38]
Chr14:63511890 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.1202G>A (p.Arg401His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001220986] Chr14:62950300 [GRCh38]
Chr14:63417018 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.305-3C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001229306] Chr14:63001462 [GRCh38]
Chr14:63468180 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1834G>A (p.Val612Ile) single nucleotide variant not provided [RCV002467242] Chr14:62779913 [GRCh38]
Chr14:63246631 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1363G>A (p.Val455Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001049704] Chr14:62950139 [GRCh38]
Chr14:63416857 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.197+3A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001069324] Chr14:63016828 [GRCh38]
Chr14:63483546 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.2152G>C (p.Glu718Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001220174] Chr14:62708323 [GRCh38]
Chr14:63175041 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.1666G>A (p.Asp556Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001214978] Chr14:62802485 [GRCh38]
Chr14:63269203 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2456G>T (p.Gly819Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001235951] Chr14:62708019 [GRCh38]
Chr14:63174737 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.323A>G (p.Tyr108Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001036616] Chr14:63001441 [GRCh38]
Chr14:63468159 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.988C>T (p.Arg330Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001051212] Chr14:62950514 [GRCh38]
Chr14:63417232 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1186A>T (p.Ile396Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001207812] Chr14:62950316 [GRCh38]
Chr14:63417034 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.817C>T (p.Pro273Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001234311] Chr14:62980997 [GRCh38]
Chr14:63447715 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1201C>T (p.Arg401Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001206916] Chr14:62950301 [GRCh38]
Chr14:63417019 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.2948A>G (p.Lys983Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001236353] Chr14:62707527 [GRCh38]
Chr14:63174245 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.1400T>C (p.Val467Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001219637] Chr14:62849822 [GRCh38]
Chr14:63316540 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1513G>A (p.Val505Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001064261] Chr14:62849709 [GRCh38]
Chr14:63316427 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.2024T>C (p.Ile675Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001213380]|Inborn genetic diseases [RCV004986950] Chr14:62708451 [GRCh38]
Chr14:63175169 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2489A>G (p.Asn830Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001232432]|Inborn genetic diseases [RCV004986984] Chr14:62707986 [GRCh38]
Chr14:63174704 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.474T>G (p.Asn158Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001052389] Chr14:62987147 [GRCh38]
Chr14:63453865 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.2360A>G (p.Asn787Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001053350] Chr14:62708115 [GRCh38]
Chr14:63174833 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)x3 copy number gain not provided [RCV001259780] Chr14:61409856..65742610 [GRCh37]
Chr14:14q23.1-23.3		 likely pathogenic
GRCh37/hg19 14q23.2(chr14:63503098-63796178)x3 copy number gain not provided [RCV001259781] Chr14:63503098..63796178 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2789C>T (p.Ala930Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002069353]|not provided [RCV001255050] Chr14:62707686 [GRCh38]
Chr14:63174404 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.1624C>T (p.Arg542Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001316358] Chr14:62802527 [GRCh38]
Chr14:63269245 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.434-2A>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001325042] Chr14:62987189 [GRCh38]
Chr14:63453907 [GRCh37]
Chr14:14q23.2		 uncertain significance
NC_000014.8:g.(?_63174206)_(63269319_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001320202] Chr14:63174206..63269319 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1436A>G (p.Asn479Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001297500] Chr14:62849786 [GRCh38]
Chr14:63316504 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.2686C>T (p.His896Tyr) single nucleotide variant Developmental and epileptic encephalopathy 112 [RCV005012758]|Early infantile epileptic encephalopathy with suppression bursts [RCV001313196] Chr14:62707789 [GRCh38]
Chr14:63174507 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2148G>A (p.Gln716=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001397349] Chr14:62708327 [GRCh38]
Chr14:63175045 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2561C>T (p.Thr854Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001360313] Chr14:62707914 [GRCh38]
Chr14:63174632 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1871C>G (p.Ala624Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001316368]|Inborn genetic diseases [RCV002545089] Chr14:62779876 [GRCh38]
Chr14:63246594 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2927C>T (p.Pro976Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001365289] Chr14:62707548 [GRCh38]
Chr14:63174266 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1438C>T (p.Arg480Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001347040] Chr14:62849784 [GRCh38]
Chr14:63316502 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.1886A>T (p.Asn629Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001309929] Chr14:62779861 [GRCh38]
Chr14:63246579 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.998G>A (p.Arg333His) single nucleotide variant Developmental and epileptic encephalopathy 112 [RCV004762112]|Developmental and epileptic encephalopathy, 12 [RCV003339604]|Early infantile epileptic encephalopathy with suppression bursts [RCV001346092]|not provided [RCV003120575] Chr14:62950504 [GRCh38]
Chr14:63417222 [GRCh37]
Chr14:14q23.2		 pathogenic|uncertain significance
NM_139318.5(KCNH5):c.930A>T (p.Glu310Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001344127] Chr14:62980884 [GRCh38]
Chr14:63447602 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2249C>T (p.Thr750Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001363665] Chr14:62708226 [GRCh38]
Chr14:63174944 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2704C>G (p.Pro902Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001296529] Chr14:62707771 [GRCh38]
Chr14:63174489 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2072G>T (p.Arg691Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001298744] Chr14:62708403 [GRCh38]
Chr14:63175121 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.733A>T (p.Ile245Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001295596] Chr14:62981081 [GRCh38]
Chr14:63447799 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.172G>A (p.Val58Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001367362] Chr14:63016856 [GRCh38]
Chr14:63483574 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.422A>C (p.Asp141Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001338359] Chr14:63001342 [GRCh38]
Chr14:63468060 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.33G>A (p.Pro11=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001421059] Chr14:63045154 [GRCh38]
Chr14:63511872 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1680C>T (p.Arg560=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001494374] Chr14:62802471 [GRCh38]
Chr14:63269189 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2289G>A (p.Thr763=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001473144] Chr14:62708186 [GRCh38]
Chr14:63174904 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.135C>T (p.Asp45=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001474998] Chr14:63016893 [GRCh38]
Chr14:63483611 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1047C>T (p.Leu349=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001495236] Chr14:62950455 [GRCh38]
Chr14:63417173 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2577A>G (p.Arg859=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001513931]|not provided [RCV004715440] Chr14:62707898 [GRCh38]
Chr14:63174616 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.2233G>A (p.Ala745Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001513932]|not provided [RCV004716725] Chr14:62708242 [GRCh38]
Chr14:63174960 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.462G>A (p.Arg154=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001505945] Chr14:62987159 [GRCh38]
Chr14:63453877 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1461T>C (p.Asn487=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001441164] Chr14:62849761 [GRCh38]
Chr14:63316479 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.198-9dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001522692]|KCNH5-related disorder [RCV003900773] Chr14:63006474..63006475 [GRCh38]
Chr14:63473192..63473193 [GRCh37]
Chr14:14q23.2		 benign|likely benign
NM_139318.5(KCNH5):c.1992C>T (p.Leu664=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001455014] Chr14:62779755 [GRCh38]
Chr14:63246473 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.960C>T (p.Phe320=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001506310] Chr14:62950542 [GRCh38]
Chr14:63417260 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1960A>G (p.Thr654Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001511455]|Inborn genetic diseases [RCV002564307] Chr14:62779787 [GRCh38]
Chr14:63246505 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.936G>T (p.Val312=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001452480] Chr14:62980878 [GRCh38]
Chr14:63447596 [GRCh37]
Chr14:14q23.2		 likely benign
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3 copy number gain 14q22.2q24.3 duplication [RCV001506967] Chr14:54654001..75828024 [GRCh37]
Chr14:14q22.2-24.3		 likely pathogenic
NM_139318.5(KCNH5):c.2493C>T (p.Val831=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001442522] Chr14:62707982 [GRCh38]
Chr14:63174700 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2361C>T (p.Asn787=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001463428] Chr14:62708114 [GRCh38]
Chr14:63174832 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1970C>G (p.Ala657Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001521824]|Inborn genetic diseases [RCV002568040]|not provided [RCV004715466] Chr14:62779777 [GRCh38]
Chr14:63246495 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.1012C>T (p.Leu338=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001419947] Chr14:62950490 [GRCh38]
Chr14:63417208 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.333T>C (p.Ile111=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001407060] Chr14:63001431 [GRCh38]
Chr14:63468149 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.396G>A (p.Thr132=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001425364] Chr14:63001368 [GRCh38]
Chr14:63468086 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2673G>A (p.Gln891=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001410081] Chr14:62707802 [GRCh38]
Chr14:63174520 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.304A>C (p.Arg102=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001449148] Chr14:63006366 [GRCh38]
Chr14:63473084 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2253C>T (p.Ser751=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001410242] Chr14:62708222 [GRCh38]
Chr14:63174940 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1032T>C (p.Tyr344=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001429061] Chr14:62950470 [GRCh38]
Chr14:63417188 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.786C>T (p.Ile262=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001436679] Chr14:62981028 [GRCh38]
Chr14:63447746 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.765C>T (p.Asp255=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001436814] Chr14:62981049 [GRCh38]
Chr14:63447767 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.123T>G (p.Val41=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001481704] Chr14:63016905 [GRCh38]
Chr14:63483623 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2238C>T (p.Ser746=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001475990] Chr14:62708237 [GRCh38]
Chr14:63174955 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2445G>A (p.Lys815=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001462493] Chr14:62708030 [GRCh38]
Chr14:63174748 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.943-8A>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001483668] Chr14:62950567 [GRCh38]
Chr14:63417285 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2830G>A (p.Glu944Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001523440] Chr14:62707645 [GRCh38]
Chr14:63174363 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.597G>T (p.Ala199=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001472739]|not provided [RCV004704597] Chr14:62981217 [GRCh38]
Chr14:63447935 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1119C>T (p.Tyr373=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001462587] Chr14:62950383 [GRCh38]
Chr14:63417101 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.894G>C (p.Leu298=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001518933] Chr14:62980920 [GRCh38]
Chr14:63447638 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.6G>T (p.Pro2=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001510533] Chr14:63045181 [GRCh38]
Chr14:63511899 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.1499G>A (p.Gly500Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001496534]|Inborn genetic diseases [RCV004037365] Chr14:62849723 [GRCh38]
Chr14:63316441 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.2069T>G (p.Leu690Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001865940]|not provided [RCV001508352] Chr14:62708406 [GRCh38]
Chr14:63175124 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.111T>C (p.Asp37=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001489767] Chr14:63016917 [GRCh38]
Chr14:63483635 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2020-10C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001394008] Chr14:62708465 [GRCh38]
Chr14:63175183 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2020A>G (p.Ile674Val) single nucleotide variant not provided [RCV004801792] Chr14:62708455 [GRCh38]
Chr14:63175173 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2857C>T (p.Pro953Ser) single nucleotide variant not provided [RCV004798605] Chr14:62707618 [GRCh38]
Chr14:63174336 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2837G>A (p.Ser946Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001947271] Chr14:62707638 [GRCh38]
Chr14:63174356 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.304+4G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002021958] Chr14:63006362 [GRCh38]
Chr14:63473080 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2860A>G (p.Lys954Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001949751] Chr14:62707615 [GRCh38]
Chr14:63174333 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.2252G>A (p.Ser751Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001928272] Chr14:62708223 [GRCh38]
Chr14:63174941 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.2829G>A (p.Ser943=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002009098] Chr14:62707646 [GRCh38]
Chr14:63174364 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.2089A>T (p.Thr697Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001950088] Chr14:62708386 [GRCh38]
Chr14:63175104 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1199A>G (p.Tyr400Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001873947] Chr14:62950303 [GRCh38]
Chr14:63417021 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1403CAA[1] (p.Thr469del) microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV001894345] Chr14:62849814..62849816 [GRCh38]
Chr14:63316532..63316534 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.685G>A (p.Ala229Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001870797] Chr14:62981129 [GRCh38]
Chr14:63447847 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.463G>A (p.Ala155Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002001478] Chr14:62987158 [GRCh38]
Chr14:63453876 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2704C>T (p.Pro902Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001895575] Chr14:62707771 [GRCh38]
Chr14:63174489 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1970C>T (p.Ala657Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001891260] Chr14:62779777 [GRCh38]
Chr14:63246495 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.550-11C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002104257] Chr14:62981275 [GRCh38]
Chr14:63447993 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.913A>G (p.Ile305Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002005331] Chr14:62980901 [GRCh38]
Chr14:63447619 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.295A>C (p.Lys99Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002043957] Chr14:63006375 [GRCh38]
Chr14:63473093 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1822+3A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001928269] Chr14:62802326 [GRCh38]
Chr14:63269044 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.106G>C (p.Val36Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001910233] Chr14:63016922 [GRCh38]
Chr14:63483640 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.136G>A (p.Gly46Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001986744] Chr14:63016892 [GRCh38]
Chr14:63483610 [GRCh37]
Chr14:14q23.2		 likely benign|uncertain significance
NM_139318.5(KCNH5):c.356A>G (p.Glu119Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001965360] Chr14:63001408 [GRCh38]
Chr14:63468126 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.2407A>G (p.Met803Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001967978] Chr14:62708068 [GRCh38]
Chr14:63174786 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2831A>T (p.Glu944Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001965845] Chr14:62707644 [GRCh38]
Chr14:63174362 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.476G>C (p.Ser159Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001908647] Chr14:62987145 [GRCh38]
Chr14:63453863 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2642C>T (p.Ala881Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002041545] Chr14:62707833 [GRCh38]
Chr14:63174551 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1427C>G (p.Ala476Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001911059] Chr14:62849795 [GRCh38]
Chr14:63316513 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2632G>T (p.Ala878Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002007028]|Inborn genetic diseases [RCV004631924] Chr14:62707843 [GRCh38]
Chr14:63174561 [GRCh37]
Chr14:14q23.2		 uncertain significance
GRCh37/hg19 14q23.2(chr14:63122010-63230883)x1 copy number loss not provided [RCV001836536] Chr14:63122010..63230883 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1985G>A (p.Arg662Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001887704] Chr14:62779762 [GRCh38]
Chr14:63246480 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.553C>T (p.Leu185Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001944525] Chr14:62981261 [GRCh38]
Chr14:63447979 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.533A>G (p.His178Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001877606] Chr14:62987088 [GRCh38]
Chr14:63453806 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.137G>C (p.Gly46Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002039009] Chr14:63016891 [GRCh38]
Chr14:63483609 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.550-14T>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001944734] Chr14:62981278 [GRCh38]
Chr14:63447996 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2215C>T (p.Arg739Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001973175]|Inborn genetic diseases [RCV002571276] Chr14:62708260 [GRCh38]
Chr14:63174978 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.2347G>A (p.Glu783Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001940999] Chr14:62708128 [GRCh38]
Chr14:63174846 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2725A>C (p.Thr909Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001900936] Chr14:62707750 [GRCh38]
Chr14:63174468 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.545C>G (p.Ala182Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001941385] Chr14:62987076 [GRCh38]
Chr14:63453794 [GRCh37]
Chr14:14q23.2		 uncertain significance
NC_000014.8:g.(?_63511812)_(63511904_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001979161] Chr14:63511812..63511904 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2303T>G (p.Val768Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001888287] Chr14:62708172 [GRCh38]
Chr14:63174890 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.880G>A (p.Val294Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001981012]|Inborn genetic diseases [RCV003170448] Chr14:62980934 [GRCh38]
Chr14:63447652 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2872C>T (p.Pro958Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001888856]|Inborn genetic diseases [RCV002553483] Chr14:62707603 [GRCh38]
Chr14:63174321 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.412A>G (p.Ile138Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001875565] Chr14:63001352 [GRCh38]
Chr14:63468070 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.987A>T (p.Leu329Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001978496] Chr14:62950515 [GRCh38]
Chr14:63417233 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1807del (p.Val603fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001991101] Chr14:62802344 [GRCh38]
Chr14:63269062 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.249A>C (p.Gln83His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001876339] Chr14:63006421 [GRCh38]
Chr14:63473139 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2071C>T (p.Arg691Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002027001] Chr14:62708404 [GRCh38]
Chr14:63175122 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.229A>G (p.Thr77Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002030812] Chr14:63006441 [GRCh38]
Chr14:63473159 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2488A>G (p.Asn830Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001991386] Chr14:62707987 [GRCh38]
Chr14:63174705 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1087C>G (p.Leu363Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001971869] Chr14:62950415 [GRCh38]
Chr14:63417133 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.979C>T (p.Arg327Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001977026] Chr14:62950523 [GRCh38]
Chr14:63417241 [GRCh37]
Chr14:14q23.2		 likely pathogenic
NM_139318.5(KCNH5):c.665dup (p.Leu222fs) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV002015175] Chr14:62981148..62981149 [GRCh38]
Chr14:63447866..63447867 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1694A>G (p.Glu565Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001876713]|Inborn genetic diseases [RCV002547930] Chr14:62802457 [GRCh38]
Chr14:63269175 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.610C>T (p.Pro204Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001866530] Chr14:62981204 [GRCh38]
Chr14:63447922 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1196C>T (p.Pro399Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001957317] Chr14:62950306 [GRCh38]
Chr14:63417024 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1448del (p.Glu483fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001875494] Chr14:62849774 [GRCh38]
Chr14:63316492 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2335C>A (p.Arg779Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001879633] Chr14:62708140 [GRCh38]
Chr14:63174858 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.1993A>T (p.Thr665Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002048974] Chr14:62779754 [GRCh38]
Chr14:63246472 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1622del (p.Asn541fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV002013842] Chr14:62802529 [GRCh38]
Chr14:63269247 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2788G>T (p.Ala930Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001870212]|Inborn genetic diseases [RCV004988800] Chr14:62707687 [GRCh38]
Chr14:63174405 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1883C>T (p.Ala628Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002012727] Chr14:62779864 [GRCh38]
Chr14:63246582 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2447A>G (p.Asn816Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001918835] Chr14:62708028 [GRCh38]
Chr14:63174746 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.1376_1378del (p.Leu459_Tyr460delinsHis) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001875739] Chr14:62849844..62849846 [GRCh38]
Chr14:63316562..63316564 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2842C>T (p.Pro948Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001923247] Chr14:62707633 [GRCh38]
Chr14:63174351 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1465C>T (p.Arg489Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002010553] Chr14:62849757 [GRCh38]
Chr14:63316475 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1466G>A (p.Arg489Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002011805] Chr14:62849756 [GRCh38]
Chr14:63316474 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1931A>G (p.Glu644Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001884641] Chr14:62779816 [GRCh38]
Chr14:63246534 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.68C>T (p.Ser23Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002028761] Chr14:63045119 [GRCh38]
Chr14:63511837 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.581A>G (p.Gln194Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001973488] Chr14:62981233 [GRCh38]
Chr14:63447951 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2846A>C (p.Gln949Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002011233] Chr14:62707629 [GRCh38]
Chr14:63174347 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2371G>C (p.Asp791His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001903489] Chr14:62708104 [GRCh38]
Chr14:63174822 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.125A>G (p.Tyr42Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001978372] Chr14:63016903 [GRCh38]
Chr14:63483621 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.942+5G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002019266] Chr14:62980867 [GRCh38]
Chr14:63447585 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1630G>A (p.Val544Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001989540] Chr14:62802521 [GRCh38]
Chr14:63269239 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1577C>T (p.Ser526Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001957488] Chr14:62802574 [GRCh38]
Chr14:63269292 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2211G>C (p.Glu737Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002049481] Chr14:62708264 [GRCh38]
Chr14:63174982 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2689C>T (p.Pro897Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001981555] Chr14:62707786 [GRCh38]
Chr14:63174504 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.488T>C (p.Leu163Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001919527] Chr14:62987133 [GRCh38]
Chr14:63453851 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2344A>G (p.Met782Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002032961] Chr14:62708131 [GRCh38]
Chr14:63174849 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2045T>A (p.Val682Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001952085] Chr14:62708430 [GRCh38]
Chr14:63175148 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2166G>T (p.Gln722His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002013570] Chr14:62708309 [GRCh38]
Chr14:63175027 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1322C>A (p.Thr441Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001992248] Chr14:62950180 [GRCh38]
Chr14:63416898 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.395C>T (p.Thr132Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002033490] Chr14:63001369 [GRCh38]
Chr14:63468087 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1362G>A (p.Met454Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002108667] Chr14:62950140 [GRCh38]
Chr14:63416858 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.894G>A (p.Leu298=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002112056] Chr14:62980920 [GRCh38]
Chr14:63447638 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1569+14T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002090728] Chr14:62849639 [GRCh38]
Chr14:63316357 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2748A>G (p.Glu916=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002071063] Chr14:62707727 [GRCh38]
Chr14:63174445 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2838C>T (p.Ser946=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002074976] Chr14:62707637 [GRCh38]
Chr14:63174355 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1570-18A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002124715]|not provided [RCV004715605] Chr14:62802599 [GRCh38]
Chr14:63269317 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.2421T>C (p.Asn807=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002207633] Chr14:62708054 [GRCh38]
Chr14:63174772 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2020-18A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002170353] Chr14:62708473 [GRCh38]
Chr14:63175191 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1372C>T (p.Leu458Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002166044] Chr14:62849850 [GRCh38]
Chr14:63316568 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.304+14T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002075486] Chr14:63006352 [GRCh38]
Chr14:63473070 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1881T>C (p.Cys627=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002092765] Chr14:62779866 [GRCh38]
Chr14:63246584 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2691C>T (p.Pro897=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002075295] Chr14:62707784 [GRCh38]
Chr14:63174502 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.198-4C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002074507] Chr14:63006476 [GRCh38]
Chr14:63473194 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.74-17dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV002169260] Chr14:63016970..63016971 [GRCh38]
Chr14:63483688..63483689 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.304+18T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002206548] Chr14:63006348 [GRCh38]
Chr14:63473066 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2889C>A (p.Pro963=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002205653] Chr14:62707586 [GRCh38]
Chr14:63174304 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2469G>A (p.Glu823=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002088542] Chr14:62708006 [GRCh38]
Chr14:63174724 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.943-16T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002071607] Chr14:62950575 [GRCh38]
Chr14:63417293 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.197+16G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002207042] Chr14:63016815 [GRCh38]
Chr14:63483533 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2322T>C (p.Leu774=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002130139] Chr14:62708153 [GRCh38]
Chr14:63174871 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2661C>T (p.His887=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002117429] Chr14:62707814 [GRCh38]
Chr14:63174532 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2019+13G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002150332] Chr14:62779715 [GRCh38]
Chr14:63246433 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1822+11C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002195929] Chr14:62802318 [GRCh38]
Chr14:63269036 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.304+13A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002086146] Chr14:63006353 [GRCh38]
Chr14:63473071 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.676T>G (p.Phe226Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002092684] Chr14:62981138 [GRCh38]
Chr14:63447856 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.550-17C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002080279] Chr14:62981281 [GRCh38]
Chr14:63447999 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2242A>T (p.Thr748Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002095049] Chr14:62708233 [GRCh38]
Chr14:63174951 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.550-21_550-18del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV002087083] Chr14:62981282..62981285 [GRCh38]
Chr14:63448000..63448003 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.550-17C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002115415] Chr14:62981281 [GRCh38]
Chr14:63447999 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.549+6T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002133105] Chr14:62987066 [GRCh38]
Chr14:63453784 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1689G>T (p.Ala563=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002093869] Chr14:62802462 [GRCh38]
Chr14:63269180 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.198-3C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002114475] Chr14:63006475 [GRCh38]
Chr14:63473193 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1823-5del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV002133169] Chr14:62779929 [GRCh38]
Chr14:63246647 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.1063G>A (p.Val355Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002097150] Chr14:62950439 [GRCh38]
Chr14:63417157 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1822+18A>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002113247] Chr14:62802311 [GRCh38]
Chr14:63269029 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.224A>G (p.Lys75Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002148801] Chr14:63006446 [GRCh38]
Chr14:63473164 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.1924A>G (p.Lys642Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002105239] Chr14:62779823 [GRCh38]
Chr14:63246541 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2362G>A (p.Gly788Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002150991] Chr14:62708113 [GRCh38]
Chr14:63174831 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.198-18_198-15del microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV002215888] Chr14:63006487..63006490 [GRCh38]
Chr14:63473205..63473208 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2769G>A (p.Leu923=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002168529] Chr14:62707706 [GRCh38]
Chr14:63174424 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1569+16_1569+24del microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV002153481] Chr14:62849629..62849637 [GRCh38]
Chr14:63316347..63316355 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1802A>G (p.Asp601Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002170507] Chr14:62802349 [GRCh38]
Chr14:63269067 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.354T>C (p.His118=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002173689] Chr14:63001410 [GRCh38]
Chr14:63468128 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1680C>G (p.Arg560=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002096769] Chr14:62802471 [GRCh38]
Chr14:63269189 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.550-7C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002079677] Chr14:62981271 [GRCh38]
Chr14:63447989 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.756T>C (p.Ser252=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002132761] Chr14:62981058 [GRCh38]
Chr14:63447776 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.566C>T (p.Ser189Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002094895] Chr14:62981248 [GRCh38]
Chr14:63447966 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1569+16G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002196907] Chr14:62849637 [GRCh38]
Chr14:63316355 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.942+10dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV002132301] Chr14:62980861..62980862 [GRCh38]
Chr14:63447579..63447580 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.2181T>A (p.Gly727=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002157505] Chr14:62708294 [GRCh38]
Chr14:63175012 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2789C>A (p.Ala930Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002103083] Chr14:62707686 [GRCh38]
Chr14:63174404 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2020-18A>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002103679] Chr14:62708473 [GRCh38]
Chr14:63175191 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1453C>T (p.Leu485=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002117602] Chr14:62849769 [GRCh38]
Chr14:63316487 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1683C>A (p.Ala561=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002181362] Chr14:62802468 [GRCh38]
Chr14:63269186 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1625G>A (p.Arg542Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002156128] Chr14:62802526 [GRCh38]
Chr14:63269244 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1822+14T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002139414] Chr14:62802315 [GRCh38]
Chr14:63269033 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.212A>G (p.Glu71Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002100603] Chr14:63006458 [GRCh38]
Chr14:63473176 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1497A>G (p.Lys499=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002154863] Chr14:62849725 [GRCh38]
Chr14:63316443 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1395A>G (p.Gly465=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002176385] Chr14:62849827 [GRCh38]
Chr14:63316545 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2436G>A (p.Leu812=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002083212] Chr14:62708039 [GRCh38]
Chr14:63174757 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1252T>C (p.Leu418=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002175660] Chr14:62950250 [GRCh38]
Chr14:63416968 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2651C>T (p.Pro884Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002177624] Chr14:62707824 [GRCh38]
Chr14:63174542 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.451C>T (p.Arg151Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002163632] Chr14:62987170 [GRCh38]
Chr14:63453888 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.549+17T>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002217013] Chr14:62987055 [GRCh38]
Chr14:63453773 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.294C>T (p.Tyr98=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002217098] Chr14:63006376 [GRCh38]
Chr14:63473094 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2745C>T (p.His915=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002100756] Chr14:62707730 [GRCh38]
Chr14:63174448 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2716T>C (p.Leu906=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002164455] Chr14:62707759 [GRCh38]
Chr14:63174477 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.197+6T>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002122690] Chr14:63016825 [GRCh38]
Chr14:63483543 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.73+12T>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002159260] Chr14:63045102 [GRCh38]
Chr14:63511820 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2020-15T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002160785] Chr14:62708470 [GRCh38]
Chr14:63175188 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.648T>C (p.Thr216=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002182121] Chr14:62981166 [GRCh38]
Chr14:63447884 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.429A>G (p.Thr143=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002162788] Chr14:63001335 [GRCh38]
Chr14:63468053 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.943-18T>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002122667] Chr14:62950577 [GRCh38]
Chr14:63417295 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.1878A>G (p.Ala626=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002081231] Chr14:62779869 [GRCh38]
Chr14:63246587 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1983A>T (p.Ser661=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002083692] Chr14:62779764 [GRCh38]
Chr14:63246482 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1217C>G (p.Ala406Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002142912] Chr14:62950285 [GRCh38]
Chr14:63417003 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2889C>T (p.Pro963=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002082006] Chr14:62707586 [GRCh38]
Chr14:63174304 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1688C>T (p.Ala563Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002154753] Chr14:62802463 [GRCh38]
Chr14:63269181 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1926G>T (p.Lys642Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002136513] Chr14:62779821 [GRCh38]
Chr14:63246539 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2242A>G (p.Thr748Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002162406] Chr14:62708233 [GRCh38]
Chr14:63174951 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.2082T>C (p.Asn694=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002140564] Chr14:62708393 [GRCh38]
Chr14:63175111 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2366G>T (p.Gly789Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002103422] Chr14:62708109 [GRCh38]
Chr14:63174827 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1449G>A (p.Glu483=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002140633] Chr14:62849773 [GRCh38]
Chr14:63316491 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2178G>A (p.Gln726=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002179473] Chr14:62708297 [GRCh38]
Chr14:63175015 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2355G>A (p.Lys785=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002218910] Chr14:62708120 [GRCh38]
Chr14:63174838 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2079G>A (p.Lys693=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002217297] Chr14:62708396 [GRCh38]
Chr14:63175114 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2335C>T (p.Arg779Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002156710] Chr14:62708140 [GRCh38]
Chr14:63174858 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.305-14del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV002118541] Chr14:63001473 [GRCh38]
Chr14:63468191 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2631G>A (p.Lys877=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002184047] Chr14:62707844 [GRCh38]
Chr14:63174562 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.2019+9T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002160654] Chr14:62779719 [GRCh38]
Chr14:63246437 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.729C>T (p.Asn243=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002136549] Chr14:62981085 [GRCh38]
Chr14:63447803 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2817A>G (p.Leu939=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003110459] Chr14:62707658 [GRCh38]
Chr14:63174376 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2749C>T (p.Leu917Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003116997] Chr14:62707726 [GRCh38]
Chr14:63174444 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1928G>A (p.Arg643Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003116097] Chr14:62779819 [GRCh38]
Chr14:63246537 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2001T>G (p.Thr667=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003112076] Chr14:62779746 [GRCh38]
Chr14:63246464 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.433+5T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003115104] Chr14:63001326 [GRCh38]
Chr14:63468044 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.372C>A (p.Phe124Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003118620] Chr14:63001392 [GRCh38]
Chr14:63468110 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1111G>A (p.Gly371Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003121936] Chr14:62950391 [GRCh38]
Chr14:63417109 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1050G>A (p.Val350=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003121655] Chr14:62950452 [GRCh38]
Chr14:63417170 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.755G>T (p.Ser252Ile) single nucleotide variant not provided [RCV003123160] Chr14:62981059 [GRCh38]
Chr14:63447777 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1518G>A (p.Met506Ile) single nucleotide variant not provided [RCV003236056] Chr14:62849704 [GRCh38]
Chr14:63316422 [GRCh37]
Chr14:14q23.2		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_139318.5(KCNH5):c.2138T>A (p.Phe713Tyr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002297360] Chr14:62708337 [GRCh38]
Chr14:63175055 [GRCh37]
Chr14:14q23.2		 uncertain significance
GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1 copy number loss not provided [RCV002472446] Chr14:57804997..63590203 [GRCh37]
Chr14:14q22.3-23.2		 likely pathogenic
NM_139318.5(KCNH5):c.2761A>T (p.Ile921Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002303978] Chr14:62707714 [GRCh38]
Chr14:63174432 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1700A>C (p.Gln567Pro) single nucleotide variant not provided [RCV002308999] Chr14:62802451 [GRCh38]
Chr14:63269169 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.226A>G (p.Lys76Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002296384] Chr14:63006444 [GRCh38]
Chr14:63473162 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2535G>C (p.Lys845Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002296550] Chr14:62707940 [GRCh38]
Chr14:63174658 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1144A>G (p.Thr382Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002295383] Chr14:62950358 [GRCh38]
Chr14:63417076 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1408A>G (p.Ile470Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002299798] Chr14:62849814 [GRCh38]
Chr14:63316532 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1127T>A (p.Ile376Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002302973] Chr14:62950375 [GRCh38]
Chr14:63417093 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2510T>C (p.Met837Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002299218] Chr14:62707965 [GRCh38]
Chr14:63174683 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.491A>G (p.Gln164Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002294920] Chr14:62987130 [GRCh38]
Chr14:63453848 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1223T>G (p.Ile408Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002301951] Chr14:62950279 [GRCh38]
Chr14:63416997 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2204A>G (p.Gln735Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002295877] Chr14:62708271 [GRCh38]
Chr14:63174989 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2449A>G (p.Asn817Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002297975] Chr14:62708026 [GRCh38]
Chr14:63174744 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.950G>C (p.Ser317Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002904943] Chr14:62950552 [GRCh38]
Chr14:63417270 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.338C>T (p.Pro113Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002617199] Chr14:63001426 [GRCh38]
Chr14:63468144 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2606C>T (p.Thr869Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002771562] Chr14:62707869 [GRCh38]
Chr14:63174587 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.942+11C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002993862] Chr14:62980861 [GRCh38]
Chr14:63447579 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.434-18T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002751047] Chr14:62987205 [GRCh38]
Chr14:63453923 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.253T>C (p.Phe85Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003014287] Chr14:63006417 [GRCh38]
Chr14:63473135 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2019+13G>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002863458] Chr14:62779715 [GRCh38]
Chr14:63246433 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.727A>T (p.Asn243Tyr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002616284] Chr14:62981087 [GRCh38]
Chr14:63447805 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1023C>T (p.Tyr341=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003074913] Chr14:62950479 [GRCh38]
Chr14:63417197 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2615A>G (p.Asp872Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002819929] Chr14:62707860 [GRCh38]
Chr14:63174578 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2529C>T (p.Asp843=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002618406] Chr14:62707946 [GRCh38]
Chr14:63174664 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2722A>T (p.Thr908Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002908082] Chr14:62707753 [GRCh38]
Chr14:63174471 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.719C>G (p.Thr240Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003108217]|Inborn genetic diseases [RCV002684155] Chr14:62981095 [GRCh38]
Chr14:63447813 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2371G>A (p.Asp791Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003014500] Chr14:62708104 [GRCh38]
Chr14:63174822 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.2942C>T (p.Ser981Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002861317] Chr14:62707533 [GRCh38]
Chr14:63174251 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.816_817delinsAT (p.Pro273Ser) indel Early infantile epileptic encephalopathy with suppression bursts [RCV002838320] Chr14:62980997..62980998 [GRCh38]
Chr14:63447715..63447716 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.636T>A (p.Ala212=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002771501] Chr14:62981178 [GRCh38]
Chr14:63447896 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1125C>A (p.Val375=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003074224] Chr14:62950377 [GRCh38]
Chr14:63417095 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2517A>G (p.Leu839=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002995747] Chr14:62707958 [GRCh38]
Chr14:63174676 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.210G>A (p.Gly70=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002862685] Chr14:63006460 [GRCh38]
Chr14:63473178 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.472A>G (p.Asn158Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002967557] Chr14:62987149 [GRCh38]
Chr14:63453867 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2030G>T (p.Arg677Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002616461] Chr14:62708445 [GRCh38]
Chr14:63175163 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.515C>A (p.Thr172Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002755510] Chr14:62987106 [GRCh38]
Chr14:63453824 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.478C>A (p.Arg160=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003034249] Chr14:62987143 [GRCh38]
Chr14:63453861 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1061G>A (p.Cys354Tyr) single nucleotide variant not provided [RCV002511366] Chr14:62950441 [GRCh38]
Chr14:63417159 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2481C>T (p.Asp827=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002819523] Chr14:62707994 [GRCh38]
Chr14:63174712 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.912C>G (p.Asp304Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002756380] Chr14:62980902 [GRCh38]
Chr14:63447620 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1511G>A (p.Arg504Gln) single nucleotide variant not provided [RCV002461717] Chr14:62849711 [GRCh38]
Chr14:63316429 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1123G>A (p.Val375Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003015641] Chr14:62950379 [GRCh38]
Chr14:63417097 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.148C>G (p.Leu50Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002706469] Chr14:63016880 [GRCh38]
Chr14:63483598 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.46T>C (p.Leu16=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002761051] Chr14:63045141 [GRCh38]
Chr14:63511859 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2594A>G (p.Asp865Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002620652]|Inborn genetic diseases [RCV004070603] Chr14:62707881 [GRCh38]
Chr14:63174599 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2019+15T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002592924] Chr14:62779713 [GRCh38]
Chr14:63246431 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.630T>C (p.Tyr210=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002640561] Chr14:62981184 [GRCh38]
Chr14:63447902 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.197+7A>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003081398] Chr14:63016824 [GRCh38]
Chr14:63483542 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.943-5T>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002825477] Chr14:62950564 [GRCh38]
Chr14:63417282 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2428G>C (p.Gly810Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002999084] Chr14:62708047 [GRCh38]
Chr14:63174765 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.306A>G (p.Arg102=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002659560] Chr14:63001458 [GRCh38]
Chr14:63468176 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2555G>A (p.Ser852Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002979440] Chr14:62707920 [GRCh38]
Chr14:63174638 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.434-12C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002636926] Chr14:62987199 [GRCh38]
Chr14:63453917 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2471A>G (p.Lys824Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003018117] Chr14:62708004 [GRCh38]
Chr14:63174722 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1269C>T (p.Leu423=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002846365] Chr14:62950233 [GRCh38]
Chr14:63416951 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.73+16G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003054363] Chr14:63045098 [GRCh38]
Chr14:63511816 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.294C>G (p.Tyr98Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002797355] Chr14:63006376 [GRCh38]
Chr14:63473094 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1823-18T>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002823998] Chr14:62779942 [GRCh38]
Chr14:63246660 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2441T>C (p.Leu814Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003038268] Chr14:62708034 [GRCh38]
Chr14:63174752 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1796A>G (p.Gln599Arg) single nucleotide variant Inborn genetic diseases [RCV002757313] Chr14:62802355 [GRCh38]
Chr14:63269073 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1712G>C (p.Cys571Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003018709] Chr14:62802439 [GRCh38]
Chr14:63269157 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2890del (p.Gln964fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV002797030] Chr14:62707585 [GRCh38]
Chr14:63174303 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.684C>T (p.Thr228=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002913435] Chr14:62981130 [GRCh38]
Chr14:63447848 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2866C>A (p.Gln956Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002923200]|Inborn genetic diseases [RCV004983202] Chr14:62707609 [GRCh38]
Chr14:63174327 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1323C>T (p.Thr441=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003079990] Chr14:62950179 [GRCh38]
Chr14:63416897 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1885A>G (p.Asn629Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002735581] Chr14:62779862 [GRCh38]
Chr14:63246580 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.550-13T>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002975801] Chr14:62981277 [GRCh38]
Chr14:63447995 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.156A>G (p.Gly52=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002624552] Chr14:63016872 [GRCh38]
Chr14:63483590 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.115C>T (p.Pro39Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002982932] Chr14:63016913 [GRCh38]
Chr14:63483631 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2936C>T (p.Pro979Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003043561] Chr14:62707539 [GRCh38]
Chr14:63174257 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2254G>A (p.Val752Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003083911] Chr14:62708221 [GRCh38]
Chr14:63174939 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.304+19A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002829201] Chr14:63006347 [GRCh38]
Chr14:63473065 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2752A>G (p.Lys918Glu) single nucleotide variant Inborn genetic diseases [RCV002954943] Chr14:62707723 [GRCh38]
Chr14:63174441 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1473C>G (p.Phe491Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003057135] Chr14:62849749 [GRCh38]
Chr14:63316467 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2245G>A (p.Gly749Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753248]|Inborn genetic diseases [RCV002665426] Chr14:62708230 [GRCh38]
Chr14:63174948 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2214C>T (p.Ser738=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002828415] Chr14:62708261 [GRCh38]
Chr14:63174979 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2825T>C (p.Leu942Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002918672] Chr14:62707650 [GRCh38]
Chr14:63174368 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.174C>A (p.Val58=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003043322] Chr14:63016854 [GRCh38]
Chr14:63483572 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.379A>G (p.Thr127Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003024417] Chr14:63001385 [GRCh38]
Chr14:63468103 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2020-6C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002918121] Chr14:62708461 [GRCh38]
Chr14:63175179 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2555G>C (p.Ser852Thr) single nucleotide variant Inborn genetic diseases [RCV002954835] Chr14:62707920 [GRCh38]
Chr14:63174638 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.304+17_304+19del microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV003084932] Chr14:63006347..63006349 [GRCh38]
Chr14:63473065..63473067 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2888C>A (p.Pro963His) single nucleotide variant Inborn genetic diseases [RCV002763557] Chr14:62707587 [GRCh38]
Chr14:63174305 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2216G>A (p.Arg739His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002954366] Chr14:62708259 [GRCh38]
Chr14:63174977 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2410A>C (p.Lys804Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002918726] Chr14:62708065 [GRCh38]
Chr14:63174783 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.30A>G (p.Ala10=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002805332] Chr14:63045157 [GRCh38]
Chr14:63511875 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2437C>T (p.Arg813Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002630915] Chr14:62708038 [GRCh38]
Chr14:63174756 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1866C>G (p.Thr622=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002967100] Chr14:62779881 [GRCh38]
Chr14:63246599 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1439G>A (p.Arg480Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003088885] Chr14:62849783 [GRCh38]
Chr14:63316501 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1054C>T (p.Leu352=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002601733] Chr14:62950448 [GRCh38]
Chr14:63417166 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.520G>A (p.Val174Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002676126] Chr14:62987101 [GRCh38]
Chr14:63453819 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.434-8T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002938301] Chr14:62987195 [GRCh38]
Chr14:63453913 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.765C>A (p.Asp255Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003048644] Chr14:62981049 [GRCh38]
Chr14:63447767 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2680G>A (p.Ala894Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002676201] Chr14:62707795 [GRCh38]
Chr14:63174513 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1096A>G (p.Ile366Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003060543] Chr14:62950406 [GRCh38]
Chr14:63417124 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2707G>T (p.Glu903Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003008529] Chr14:62707768 [GRCh38]
Chr14:63174486 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1403C>A (p.Thr468Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002833808] Chr14:62849819 [GRCh38]
Chr14:63316537 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2006A>G (p.Asn669Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002937089] Chr14:62779741 [GRCh38]
Chr14:63246459 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.953G>A (p.Ser318Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003027843] Chr14:62950549 [GRCh38]
Chr14:63417267 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.198-17T>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002834396] Chr14:63006489 [GRCh38]
Chr14:63473207 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2630A>G (p.Lys877Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002937713] Chr14:62707845 [GRCh38]
Chr14:63174563 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.1939C>T (p.Leu647Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002649294] Chr14:62779808 [GRCh38]
Chr14:63246526 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.73+19C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003063135] Chr14:63045095 [GRCh38]
Chr14:63511813 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2677G>A (p.Asp893Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003044976] Chr14:62707798 [GRCh38]
Chr14:63174516 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2448T>A (p.Asn816Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003011476] Chr14:62708027 [GRCh38]
Chr14:63174745 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.315T>A (p.Val105=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002746485] Chr14:63001449 [GRCh38]
Chr14:63468167 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2514G>A (p.Gly838=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002715980] Chr14:62707961 [GRCh38]
Chr14:63174679 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.304+3A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003047929] Chr14:63006363 [GRCh38]
Chr14:63473081 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2026T>G (p.Phe676Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002966174] Chr14:62708449 [GRCh38]
Chr14:63175167 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.678C>T (p.Phe226=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003060700] Chr14:62981136 [GRCh38]
Chr14:63447854 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2195A>G (p.Asn732Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002895409] Chr14:62708280 [GRCh38]
Chr14:63174998 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.519G>A (p.Glu173=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002857595] Chr14:62987102 [GRCh38]
Chr14:63453820 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1791C>T (p.Val597=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003010153] Chr14:62802360 [GRCh38]
Chr14:63269078 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.550-1G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002806671] Chr14:62981265 [GRCh38]
Chr14:63447983 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.198-5C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002746206] Chr14:63006477 [GRCh38]
Chr14:63473195 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1415A>G (p.Gln472Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003031293] Chr14:62849807 [GRCh38]
Chr14:63316525 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.309C>A (p.Thr103=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002857394] Chr14:63001455 [GRCh38]
Chr14:63468173 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2022C>T (p.Ile674=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002650933] Chr14:62708453 [GRCh38]
Chr14:63175171 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.22C>T (p.Leu8=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002746261] Chr14:63045165 [GRCh38]
Chr14:63511883 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.433+9_433+10insAACAAAAGGTAATTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGG insertion Early infantile epileptic encephalopathy with suppression bursts [RCV003027179] Chr14:63001321..63001322 [GRCh38]
Chr14:63468039..63468040 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2227A>G (p.Asn743Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002647298] Chr14:62708248 [GRCh38]
Chr14:63174966 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.205T>C (p.Tyr69His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002628970] Chr14:63006465 [GRCh38]
Chr14:63473183 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2913T>C (p.Phe971=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003069329] Chr14:62707562 [GRCh38]
Chr14:63174280 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.411A>G (p.Pro137=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003093578] Chr14:63001353 [GRCh38]
Chr14:63468071 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2621G>A (p.Arg874His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002942232]|Inborn genetic diseases [RCV003269333] Chr14:62707854 [GRCh38]
Chr14:63174572 [GRCh37]
Chr14:14q23.2		 benign|uncertain significance
NM_139318.5(KCNH5):c.2179_2181delinsCAC (p.Gly727His) indel Early infantile epileptic encephalopathy with suppression bursts [RCV003049712] Chr14:62708294..62708296 [GRCh38]
Chr14:63175012..63175014 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.825A>G (p.Gly275=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003051769] Chr14:62980989 [GRCh38]
Chr14:63447707 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2584G>C (p.Asp862His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003067794] Chr14:62707891 [GRCh38]
Chr14:63174609 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1570-16C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002605861] Chr14:62802597 [GRCh38]
Chr14:63269315 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1332G>A (p.Val444=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003093482] Chr14:62950170 [GRCh38]
Chr14:63416888 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.942+12G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003066829] Chr14:62980860 [GRCh38]
Chr14:63447578 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.409C>A (p.Pro137Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002943393] Chr14:63001355 [GRCh38]
Chr14:63468073 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1570-9C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003066630] Chr14:62802590 [GRCh38]
Chr14:63269308 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.597G>A (p.Ala199=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003072112] Chr14:62981217 [GRCh38]
Chr14:63447935 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1313_1314del (p.Ile438fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV002589192]|not provided [RCV004779357] Chr14:62950188..62950189 [GRCh38]
Chr14:63416906..63416907 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2018G>A (p.Arg673Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003032127] Chr14:62779729 [GRCh38]
Chr14:63246447 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1869T>A (p.Leu623=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002603102] Chr14:62779878 [GRCh38]
Chr14:63246596 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2257G>T (p.Val753Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005102643]|Inborn genetic diseases [RCV003278032] Chr14:62708218 [GRCh38]
Chr14:63174936 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1388T>C (p.Ile463Thr) single nucleotide variant Developmental and epileptic encephalopathy, 12 [RCV003334360]|Inborn genetic diseases [RCV003341566] Chr14:62849834 [GRCh38]
Chr14:63316552 [GRCh37]
Chr14:14q23.2		 pathogenic|uncertain significance
NM_139318.5(KCNH5):c.1402A>C (p.Thr468Pro) single nucleotide variant Developmental and epileptic encephalopathy, 12 [RCV003334363] Chr14:62849820 [GRCh38]
Chr14:63316538 [GRCh37]
Chr14:14q23.2		 pathogenic
NM_139318.5(KCNH5):c.1412T>C (p.Phe471Ser) single nucleotide variant Developmental and epileptic encephalopathy, 12 [RCV003334364] Chr14:62849810 [GRCh38]
Chr14:63316528 [GRCh37]
Chr14:14q23.2		 pathogenic
NM_139318.5(KCNH5):c.1769T>G (p.Val590Gly) single nucleotide variant not provided [RCV003329806] Chr14:62802382 [GRCh38]
Chr14:63269100 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2020-4A>G single nucleotide variant Developmental and epileptic encephalopathy, 12 [RCV003334361] Chr14:62708459 [GRCh38]
Chr14:63175177 [GRCh37]
Chr14:14q23.2		 pathogenic
NM_139318.5(KCNH5):c.1382C>A (p.Ala461Glu) single nucleotide variant Developmental and epileptic encephalopathy 112 [RCV003334451] Chr14:62849840 [GRCh38]
Chr14:63316558 [GRCh37]
Chr14:14q23.2		 likely pathogenic
NM_139318.5(KCNH5):c.2600G>T (p.Gly867Val) single nucleotide variant Inborn genetic diseases [RCV003373434] Chr14:62707875 [GRCh38]
Chr14:63174593 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2044G>A (p.Val682Met) single nucleotide variant Inborn genetic diseases [RCV003374208] Chr14:62708431 [GRCh38]
Chr14:63175149 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1596G>A (p.Met532Ile) single nucleotide variant Inborn genetic diseases [RCV003383941] Chr14:62802555 [GRCh38]
Chr14:63269273 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.-153A>G single nucleotide variant Developmental and epileptic encephalopathy 112 [RCV004566557] Chr14:63045339 [GRCh38]
Chr14:63512057 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2509A>G (p.Met837Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003826443] Chr14:62707966 [GRCh38]
Chr14:63174684 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2063A>T (p.Glu688Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003825546]|KCNH5-related disorder [RCV004757615] Chr14:62708412 [GRCh38]
Chr14:63175130 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2463T>C (p.His821=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003826551] Chr14:62708012 [GRCh38]
Chr14:63174730 [GRCh37]
Chr14:14q23.2		 likely benign
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33		 pathogenic
GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3 copy number gain not provided [RCV003485034] Chr14:57588965..68334517 [GRCh37]
Chr14:14q22.3-24.1		 likely pathogenic
GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1 copy number loss not provided [RCV003483204] Chr14:55667390..64447598 [GRCh37]
Chr14:14q22.3-23.2		 pathogenic
NM_139318.5(KCNH5):c.106G>A (p.Val36Met) single nucleotide variant not provided [RCV003482121] Chr14:63016922 [GRCh38]
Chr14:63483640 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2883A>T (p.Val961=) single nucleotide variant not provided [RCV003390408] Chr14:62707592 [GRCh38]
Chr14:63174310 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1473C>T (p.Phe491=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003878267] Chr14:62849749 [GRCh38]
Chr14:63316467 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1823-15T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003881833] Chr14:62779939 [GRCh38]
Chr14:63246657 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2662A>G (p.Ser888Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003880624] Chr14:62707813 [GRCh38]
Chr14:63174531 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.478C>T (p.Arg160Ter) single nucleotide variant Developmental and epileptic encephalopathy 112 [RCV003493046] Chr14:62987143 [GRCh38]
Chr14:63453861 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.198-11T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003881171] Chr14:63006483 [GRCh38]
Chr14:63473201 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1671G>A (p.Gly557=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003876701] Chr14:62802480 [GRCh38]
Chr14:63269198 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2471A>T (p.Lys824Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003588930]|not specified [RCV003489672] Chr14:62708004 [GRCh38]
Chr14:63174722 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.885C>T (p.Ile295=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003878110] Chr14:62980929 [GRCh38]
Chr14:63447647 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2420del (p.Asn807fs) deletion not specified [RCV004800265] Chr14:62708055 [GRCh38]
Chr14:63174773 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.844A>G (p.Lys282Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003834491] Chr14:62980970 [GRCh38]
Chr14:63447688 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2690C>A (p.Pro897His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753762] Chr14:62707785 [GRCh38]
Chr14:63174503 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2300A>G (p.Tyr767Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753410] Chr14:62708175 [GRCh38]
Chr14:63174893 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2793A>G (p.Leu931=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753448]|not specified [RCV004783088] Chr14:62707682 [GRCh38]
Chr14:63174400 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1280T>C (p.Met427Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753444] Chr14:62950222 [GRCh38]
Chr14:63416940 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2855C>T (p.Ser952Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753816] Chr14:62707620 [GRCh38]
Chr14:63174338 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1893G>C (p.Arg631=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753862] Chr14:62779854 [GRCh38]
Chr14:63246572 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2020-9G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753893] Chr14:62708464 [GRCh38]
Chr14:63175182 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2618T>C (p.Leu873Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754046] Chr14:62707857 [GRCh38]
Chr14:63174575 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.660G>A (p.Val220=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754126] Chr14:62981154 [GRCh38]
Chr14:63447872 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.282A>G (p.Glu94=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754269] Chr14:63006388 [GRCh38]
Chr14:63473106 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2001T>C (p.Thr667=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754362] Chr14:62779746 [GRCh38]
Chr14:63246464 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1819T>C (p.Leu607=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754365] Chr14:62802332 [GRCh38]
Chr14:63269050 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1712G>A (p.Cys571Tyr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752855] Chr14:62802439 [GRCh38]
Chr14:63269157 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.65G>A (p.Arg22His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753030] Chr14:63045122 [GRCh38]
Chr14:63511840 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2935C>T (p.Pro979Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003856256] Chr14:62707540 [GRCh38]
Chr14:63174258 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1340T>C (p.Met447Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754672] Chr14:62950162 [GRCh38]
Chr14:63416880 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2359A>G (p.Asn787Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753499] Chr14:62708116 [GRCh38]
Chr14:63174834 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2641G>A (p.Ala881Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753503] Chr14:62707834 [GRCh38]
Chr14:63174552 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2889C>G (p.Pro963=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003838898] Chr14:62707586 [GRCh38]
Chr14:63174304 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1197A>G (p.Pro399=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753076] Chr14:62950305 [GRCh38]
Chr14:63417023 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2786C>G (p.Thr929Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754249] Chr14:62707689 [GRCh38]
Chr14:63174407 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1875T>C (p.His625=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754818] Chr14:62779872 [GRCh38]
Chr14:63246590 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1369+14T>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753590] Chr14:62950119 [GRCh38]
Chr14:63416837 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2342C>T (p.Ala781Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753604]|Inborn genetic diseases [RCV004985565] Chr14:62708133 [GRCh38]
Chr14:63174851 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2734G>A (p.Glu912Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754415]|Inborn genetic diseases [RCV004371739] Chr14:62707741 [GRCh38]
Chr14:63174459 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.259A>C (p.Asn87His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753354] Chr14:63006411 [GRCh38]
Chr14:63473129 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1927C>T (p.Arg643Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753629] Chr14:62779820 [GRCh38]
Chr14:63246538 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2921C>G (p.Ser974Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753673] Chr14:62707554 [GRCh38]
Chr14:63174272 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.330A>G (p.Gln110=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754434] Chr14:63001434 [GRCh38]
Chr14:63468152 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1929G>A (p.Arg643=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753471] Chr14:62779818 [GRCh38]
Chr14:63246536 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1822+5T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753473] Chr14:62802324 [GRCh38]
Chr14:63269042 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.435T>G (p.Gly145=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753731] Chr14:62987186 [GRCh38]
Chr14:63453904 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.859A>T (p.Asn287Tyr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753917] Chr14:62980955 [GRCh38]
Chr14:63447673 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.979C>A (p.Arg327Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754501] Chr14:62950523 [GRCh38]
Chr14:63417241 [GRCh37]
Chr14:14q23.2		 likely pathogenic
NM_139318.5(KCNH5):c.2029C>T (p.Arg677Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753772] Chr14:62708446 [GRCh38]
Chr14:63175164 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1176G>T (p.Leu392=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754026] Chr14:62950326 [GRCh38]
Chr14:63417044 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1649C>T (p.Ala550Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754855] Chr14:62802502 [GRCh38]
Chr14:63269220 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1086G>T (p.Trp362Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752641] Chr14:62950416 [GRCh38]
Chr14:63417134 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2321T>C (p.Leu774Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752752] Chr14:62708154 [GRCh38]
Chr14:63174872 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.811G>C (p.Val271Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753829] Chr14:62981003 [GRCh38]
Chr14:63447721 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.198-9C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753031] Chr14:63006481 [GRCh38]
Chr14:63473199 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1635T>A (p.Phe545Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754634] Chr14:62802516 [GRCh38]
Chr14:63269234 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2147A>C (p.Gln716Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754639] Chr14:62708328 [GRCh38]
Chr14:63175046 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2446A>G (p.Asn816Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754658] Chr14:62708029 [GRCh38]
Chr14:63174747 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1071A>G (p.Gly357=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754659] Chr14:62950431 [GRCh38]
Chr14:63417149 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1369+12A>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753321] Chr14:62950121 [GRCh38]
Chr14:63416839 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.918C>T (p.Ile306=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754358] Chr14:62980896 [GRCh38]
Chr14:63447614 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2171C>T (p.Ser724Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754644] Chr14:62708304 [GRCh38]
Chr14:63175022 [GRCh37]
Chr14:14q23.2		 benign
NM_139318.5(KCNH5):c.731A>G (p.Asn244Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753826] Chr14:62981083 [GRCh38]
Chr14:63447801 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1187T>C (p.Ile396Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753860] Chr14:62950315 [GRCh38]
Chr14:63417033 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.550-15T>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754407] Chr14:62981279 [GRCh38]
Chr14:63447997 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2847G>A (p.Gln949=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754411] Chr14:62707628 [GRCh38]
Chr14:63174346 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2217C>G (p.Arg739=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754677] Chr14:62708258 [GRCh38]
Chr14:63174976 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.646A>G (p.Thr216Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754695]|not provided [RCV004823185] Chr14:62981168 [GRCh38]
Chr14:63447886 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.74-7T>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754701] Chr14:63016961 [GRCh38]
Chr14:63483679 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2019+7T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753924] Chr14:62779721 [GRCh38]
Chr14:63246439 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2859C>T (p.Pro953=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753426] Chr14:62707616 [GRCh38]
Chr14:63174334 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.247C>T (p.Gln83Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752620] Chr14:63006423 [GRCh38]
Chr14:63473141 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1570-12C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753502] Chr14:62802593 [GRCh38]
Chr14:63269311 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1959T>C (p.Tyr653=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752677] Chr14:62779788 [GRCh38]
Chr14:63246506 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2133G>A (p.Gln711=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752901] Chr14:62708342 [GRCh38]
Chr14:63175060 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1654C>T (p.Arg552Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754033] Chr14:62802497 [GRCh38]
Chr14:63269215 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.198-7C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754044] Chr14:63006479 [GRCh38]
Chr14:63473197 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.919A>G (p.Asn307Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753961] Chr14:62980895 [GRCh38]
Chr14:63447613 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2284C>G (p.Gln762Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752742] Chr14:62708191 [GRCh38]
Chr14:63174909 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2888C>T (p.Pro963Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754073] Chr14:62707587 [GRCh38]
Chr14:63174305 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.198-12T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754136] Chr14:63006484 [GRCh38]
Chr14:63473202 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.568dup (p.Asp190fs) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV003752726] Chr14:62981245..62981246 [GRCh38]
Chr14:63447963..63447964 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2039G>T (p.Ser680Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752774] Chr14:62708436 [GRCh38]
Chr14:63175154 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2156T>C (p.Leu719Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754670] Chr14:62708319 [GRCh38]
Chr14:63175037 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.854G>A (p.Arg285Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754772] Chr14:62980960 [GRCh38]
Chr14:63447678 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.394A>T (p.Thr132Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754778] Chr14:63001370 [GRCh38]
Chr14:63468088 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2822T>C (p.Ile941Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753613] Chr14:62707653 [GRCh38]
Chr14:63174371 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.188G>T (p.Ser63Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753056] Chr14:63016840 [GRCh38]
Chr14:63483558 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.888T>C (p.Asp296=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003813764] Chr14:62980926 [GRCh38]
Chr14:63447644 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1823-17C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003753619] Chr14:62779941 [GRCh38]
Chr14:63246659 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.942+16T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752838] Chr14:62980856 [GRCh38]
Chr14:63447574 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2415T>C (p.Asn805=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754000] Chr14:62708060 [GRCh38]
Chr14:63174778 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1823-11C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754287] Chr14:62779935 [GRCh38]
Chr14:63246653 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2185C>G (p.Pro729Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003752982] Chr14:62708290 [GRCh38]
Chr14:63175008 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1491C>T (p.Val497=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754581] Chr14:62849731 [GRCh38]
Chr14:63316449 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2280C>A (p.Pro760=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754759] Chr14:62708195 [GRCh38]
Chr14:63174913 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2494A>C (p.Thr832Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754206] Chr14:62707981 [GRCh38]
Chr14:63174699 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2029C>G (p.Arg677Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754617] Chr14:62708446 [GRCh38]
Chr14:63175164 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.53A>T (p.Asn18Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003754620] Chr14:63045134 [GRCh38]
Chr14:63511852 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2068C>G (p.Leu690Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003845352] Chr14:62708407 [GRCh38]
Chr14:63175125 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1034G>C (p.Gly345Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589229] Chr14:62950468 [GRCh38]
Chr14:63417186 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1876G>A (p.Ala626Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590103]|not provided [RCV004765901] Chr14:62779871 [GRCh38]
Chr14:63246589 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2954A>T (p.Glu985Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590610] Chr14:62707521 [GRCh38]
Chr14:63174239 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2085G>A (p.Glu695=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003588995] Chr14:62708390 [GRCh38]
Chr14:63175108 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2151G>A (p.Lys717=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003841148] Chr14:62708324 [GRCh38]
Chr14:63175042 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.908A>G (p.Tyr303Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590558] Chr14:62980906 [GRCh38]
Chr14:63447624 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2019G>A (p.Arg673=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003588286] Chr14:62779728 [GRCh38]
Chr14:63246446 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.198-14T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003588340] Chr14:63006486 [GRCh38]
Chr14:63473204 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2797A>G (p.Lys933Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590214] Chr14:62707678 [GRCh38]
Chr14:63174396 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.399G>T (p.Leu133Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589368] Chr14:63001365 [GRCh38]
Chr14:63468083 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.66C>T (p.Arg22=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589524] Chr14:63045121 [GRCh38]
Chr14:63511839 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.304+11C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003859396] Chr14:63006355 [GRCh38]
Chr14:63473073 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2791C>G (p.Leu931Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589835] Chr14:62707684 [GRCh38]
Chr14:63174402 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1906T>A (p.Cys636Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589760]|Inborn genetic diseases [RCV004985387] Chr14:62779841 [GRCh38]
Chr14:63246559 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2158C>T (p.Arg720Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003845784] Chr14:62708317 [GRCh38]
Chr14:63175035 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2481C>A (p.Asp827Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590083] Chr14:62707994 [GRCh38]
Chr14:63174712 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2803G>A (p.Val935Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590208] Chr14:62707672 [GRCh38]
Chr14:63174390 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2178G>C (p.Gln726His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590307] Chr14:62708297 [GRCh38]
Chr14:63175015 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.345A>G (p.Arg115=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590334] Chr14:63001419 [GRCh38]
Chr14:63468137 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.550-9C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590562] Chr14:62981273 [GRCh38]
Chr14:63447991 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.597G>C (p.Ala199=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003588953] Chr14:62981217 [GRCh38]
Chr14:63447935 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2040T>C (p.Ser680=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589403] Chr14:62708435 [GRCh38]
Chr14:63175153 [GRCh37]
Chr14:14q23.2		 likely benign
GRCh37/hg19 14q23.2(chr14:62715828-63487534)x1 copy number loss not specified [RCV003987065] Chr14:62715828..63487534 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1570-11A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590907] Chr14:62802592 [GRCh38]
Chr14:63269310 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1569+7G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589151] Chr14:62849646 [GRCh38]
Chr14:63316364 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2641G>T (p.Ala881Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589276] Chr14:62707834 [GRCh38]
Chr14:63174552 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.558G>C (p.Gln186His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003853127] Chr14:62981256 [GRCh38]
Chr14:63447974 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.748C>A (p.Leu250Met) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590918] Chr14:62981066 [GRCh38]
Chr14:63447784 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.198-15T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590941] Chr14:63006487 [GRCh38]
Chr14:63473205 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2645G>A (p.Arg882Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003840665]|Inborn genetic diseases [RCV004987092] Chr14:62707830 [GRCh38]
Chr14:63174548 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2549A>G (p.Glu850Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589631]|not provided [RCV004765867] Chr14:62707926 [GRCh38]
Chr14:63174644 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1254G>A (p.Leu418=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003591000] Chr14:62950248 [GRCh38]
Chr14:63416966 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2637G>A (p.Gly879=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003588069] Chr14:62707838 [GRCh38]
Chr14:63174556 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2804T>C (p.Val935Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590433] Chr14:62707671 [GRCh38]
Chr14:63174389 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.318G>T (p.Trp106Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590513] Chr14:63001446 [GRCh38]
Chr14:63468164 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.505A>G (p.Met169Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590668] Chr14:62987116 [GRCh38]
Chr14:63453834 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.645T>C (p.Thr215=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003589055] Chr14:62981169 [GRCh38]
Chr14:63447887 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.137G>T (p.Gly46Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003860278] Chr14:63016891 [GRCh38]
Chr14:63483609 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2106G>A (p.Val702=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003590814] Chr14:62708369 [GRCh38]
Chr14:63175087 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2878C>T (p.Gln960Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005100815]|not specified [RCV004527264] Chr14:62707597 [GRCh38]
Chr14:63174315 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1267C>G (p.Leu423Val) single nucleotide variant Inborn genetic diseases [RCV004406126] Chr14:62950235 [GRCh38]
Chr14:63416953 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.766G>C (p.Val256Leu) single nucleotide variant Inborn genetic diseases [RCV004406127] Chr14:62981048 [GRCh38]
Chr14:63447766 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1248T>A (p.Asp416Glu) single nucleotide variant not provided [RCV004575932] Chr14:62950254 [GRCh38]
Chr14:63416972 [GRCh37]
Chr14:14q23.2		 uncertain significance
NC_000014.8:g.(?_63174226)_(63511904_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV004578086] Chr14:63174226..63511904 [GRCh37]
Chr14:14q23.2		 uncertain significance
NC_000014.8:g.(?_63174226)_(63511904_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV004578085] Chr14:63174226..63511904 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.875G>T (p.Trp292Leu) single nucleotide variant not specified [RCV004701129] Chr14:62980939 [GRCh38]
Chr14:63447657 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.763G>A (p.Asp255Asn) single nucleotide variant not provided [RCV004770757] Chr14:62981051 [GRCh38]
Chr14:63447769 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.161A>G (p.His54Arg) single nucleotide variant not provided [RCV004781154] Chr14:63016867 [GRCh38]
Chr14:63483585 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.888T>A (p.Asp296Glu) single nucleotide variant not specified [RCV004701127] Chr14:62980926 [GRCh38]
Chr14:63447644 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2724C>T (p.Thr908=) single nucleotide variant not provided [RCV004812157] Chr14:62707751 [GRCh38]
Chr14:63174469 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2647A>T (p.Ser883Cys) single nucleotide variant not provided [RCV004766235] Chr14:62707828 [GRCh38]
Chr14:63174546 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1394G>A (p.Gly465Glu) single nucleotide variant not provided [RCV004764073]   uncertain significance
NM_139318.5(KCNH5):c.923C>T (p.Ala308Val) single nucleotide variant Inborn genetic diseases [RCV004989791] Chr14:62980891 [GRCh38]
Chr14:63447609 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.302A>C (p.Asn101Thr) single nucleotide variant Inborn genetic diseases [RCV004989790] Chr14:63006368 [GRCh38]
Chr14:63473086 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1354A>G (p.Met452Val) single nucleotide variant Inborn genetic diseases [RCV004989789] Chr14:62950148 [GRCh38]
Chr14:63416866 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.458C>T (p.Thr153Ile) single nucleotide variant Inborn genetic diseases [RCV004989788] Chr14:62987163 [GRCh38]
Chr14:63453881 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2699C>T (p.Pro900Leu) single nucleotide variant not provided [RCV004820759] Chr14:62707776 [GRCh38]
Chr14:63174494 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.812T>C (p.Val271Ala) single nucleotide variant not provided [RCV004823621] Chr14:62981002 [GRCh38]
Chr14:63447720 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2356C>G (p.Pro786Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005107015] Chr14:62708119 [GRCh38]
Chr14:63174837 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1808T>G (p.Val603Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005107017] Chr14:62802343 [GRCh38]
Chr14:63269061 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1429A>G (p.Asn477Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005107019] Chr14:62849793 [GRCh38]
Chr14:63316511 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2527G>A (p.Asp843Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005175518] Chr14:62707948 [GRCh38]
Chr14:63174666 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1932A>G (p.Glu644=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005147556] Chr14:62779815 [GRCh38]
Chr14:63246533 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2711A>G (p.Gln904Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005175426] Chr14:62707764 [GRCh38]
Chr14:63174482 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2666C>G (p.Pro889Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005087070] Chr14:62707809 [GRCh38]
Chr14:63174527 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1370C>A (p.Ser457Tyr) single nucleotide variant not provided [RCV005227470] Chr14:62849852 [GRCh38]
Chr14:63316570 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1431C>T (p.Asn477=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005146726] Chr14:62849791 [GRCh38]
Chr14:63316509 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1450A>T (p.Met484Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005066554] Chr14:62849772 [GRCh38]
Chr14:63316490 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.198-19T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005088955] Chr14:63006491 [GRCh38]
Chr14:63473209 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1505G>T (p.Ser502Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005171833] Chr14:62849717 [GRCh38]
Chr14:63316435 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.190A>G (p.Thr64Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005065603] Chr14:63016838 [GRCh38]
Chr14:63483556 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1186A>G (p.Ile396Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005173911] Chr14:62950316 [GRCh38]
Chr14:63417034 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.606G>T (p.Thr202=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005171189] Chr14:62981208 [GRCh38]
Chr14:63447926 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1794C>A (p.Ile598=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005130347] Chr14:62802357 [GRCh38]
Chr14:63269075 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1485T>C (p.Tyr495=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005203663] Chr14:62849737 [GRCh38]
Chr14:63316455 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.305-16C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005151088] Chr14:63001475 [GRCh38]
Chr14:63468193 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2184C>T (p.Asp728=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005073875] Chr14:62708291 [GRCh38]
Chr14:63175009 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.434-17C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005164622] Chr14:62987204 [GRCh38]
Chr14:63453922 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2481C>G (p.Asp827Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005182027] Chr14:62707994 [GRCh38]
Chr14:63174712 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.691A>G (p.Met231Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005122552] Chr14:62981123 [GRCh38]
Chr14:63447841 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.434-16T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005122767] Chr14:62987203 [GRCh38]
Chr14:63453921 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1199A>C (p.Tyr400Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005148679] Chr14:62950303 [GRCh38]
Chr14:63417021 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2109C>T (p.Asp703=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005189354] Chr14:62708366 [GRCh38]
Chr14:63175084 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1370-17C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005076486] Chr14:62849869 [GRCh38]
Chr14:63316587 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.215T>C (p.Leu72Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005206450] Chr14:63006455 [GRCh38]
Chr14:63473173 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2574A>G (p.Leu858=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005117066] Chr14:62707901 [GRCh38]
Chr14:63174619 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1934C>T (p.Ala645Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005191909] Chr14:62779813 [GRCh38]
Chr14:63246531 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2839G>A (p.Val947Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005191914] Chr14:62707636 [GRCh38]
Chr14:63174354 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1387A>G (p.Ile463Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005165393] Chr14:62849835 [GRCh38]
Chr14:63316553 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2648G>A (p.Ser883Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005167590] Chr14:62707827 [GRCh38]
Chr14:63174545 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.304+1G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005122623] Chr14:63006365 [GRCh38]
Chr14:63473083 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1665C>T (p.Ser555=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005193738] Chr14:62802486 [GRCh38]
Chr14:63269204 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1369+6T>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005135453] Chr14:62950127 [GRCh38]
Chr14:63416845 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2290T>C (p.Ser764Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005193921] Chr14:62708185 [GRCh38]
Chr14:63174903 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.720A>G (p.Thr240=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005079159] Chr14:62981094 [GRCh38]
Chr14:63447812 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2582C>G (p.Thr861Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005186552] Chr14:62707893 [GRCh38]
Chr14:63174611 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1857G>A (p.Lys619=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005162999] Chr14:62779890 [GRCh38]
Chr14:63246608 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.492_493del (p.Gln165fs) deletion Early infantile epileptic encephalopathy with suppression bursts [RCV005119526] Chr14:62987128..62987129 [GRCh38]
Chr14:63453846..63453847 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.304+7A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005077072] Chr14:63006359 [GRCh38]
Chr14:63473077 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1677G>A (p.Leu559=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005162282] Chr14:62802474 [GRCh38]
Chr14:63269192 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.741G>A (p.Trp247Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005203672] Chr14:62981073 [GRCh38]
Chr14:63447791 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2713G>C (p.Ala905Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005163268] Chr14:62707762 [GRCh38]
Chr14:63174480 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2713G>T (p.Ala905Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005183246] Chr14:62707762 [GRCh38]
Chr14:63174480 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2548G>A (p.Glu850Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005113390] Chr14:62707927 [GRCh38]
Chr14:63174645 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.1822+18A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005183589] Chr14:62802311 [GRCh38]
Chr14:63269029 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.433+16del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV005183757] Chr14:63001315 [GRCh38]
Chr14:63468033 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.1074G>A (p.Leu358=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005126211] Chr14:62950428 [GRCh38]
Chr14:63417146 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2787T>G (p.Thr929=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005111260] Chr14:62707688 [GRCh38]
Chr14:63174406 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.184A>T (p.Ser62Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005130961] Chr14:63016844 [GRCh38]
Chr14:63483562 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2885C>T (p.Pro962Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005153013] Chr14:62707590 [GRCh38]
Chr14:63174308 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.396G>C (p.Thr132=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005149247] Chr14:63001368 [GRCh38]
Chr14:63468086 [GRCh37]
Chr14:14q23.2		 likely benign
NM_139318.5(KCNH5):c.2702T>C (p.Ile901Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005156217] Chr14:62707773 [GRCh38]
Chr14:63174491 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.643A>T (p.Thr215Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005126743] Chr14:62981171 [GRCh38]
Chr14:63447889 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.152C>G (p.Ser51Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005178373] Chr14:63016876 [GRCh38]
Chr14:63483594 [GRCh37]
Chr14:14q23.2		 uncertain significance
NM_139318.5(KCNH5):c.2272A>G (p.Ile758Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV005176242] Chr14:62708203 [GRCh38]
Chr14:63174921 [GRCh37]
Chr14:14q23.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1032
Count of miRNA genes:682
Interacting mature miRNAs:777
Transcripts:ENST00000322893, ENST00000394964, ENST00000394968, ENST00000420622
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
597059284GWAS1155358_Hmetabolic syndrome QTL GWAS1155358 (human)2e-08metabolic syndrome146290016962900170Human
596961590GWAS1081109_Hmetabolic syndrome QTL GWAS1081109 (human)2e-08metabolic syndrome146290016962900170Human
597189393GWAS1285467_Hlevel of Sphingomyelin (d36:1) in blood serum QTL GWAS1285467 (human)4e-08level of Sphingomyelin (d36:1) in blood serum146303217763032178Human
596952254GWAS1071773_Hbody mass index QTL GWAS1071773 (human)2e-08body mass index146288533162885332Human
597310449GWAS1406523_Hvaginal microbiome measurement QTL GWAS1406523 (human)0.000006vaginal microbiome measurement146282901862829019Human
596963897GWAS1083416_Hmajor depressive disorder QTL GWAS1083416 (human)0.000004major depressive disorder146285562962855630Human
597189814GWAS1285888_Heducational attainment QTL GWAS1285888 (human)2e-08educational attainment146283753762837538Human
407039085GWAS688061_Hbody mass index QTL GWAS688061 (human)0.0000005body mass indexbody mass index (BMI) (CMO:0000105)146288953562889536Human
597190315GWAS1286389_Hlevel of Sphingomyelin (d32:1) in blood serum QTL GWAS1286389 (human)6e-10level of Sphingomyelin (d32:1) in blood serum146299801562998016Human
597325326GWAS1421400_Hcolor vision disorder QTL GWAS1421400 (human)5e-08color vision disorder146301569163015692Human
597228461GWAS1324535_HTinnitus QTL GWAS1324535 (human)0.0000008Tinnitus146285151662851517Human
597108001GWAS1204075_Hcytokine measurement QTL GWAS1204075 (human)0.0000005cytokine measurementblood cytokine measurement (CMO:0001924)146299531362995314Human
597170159GWAS1266233_Hbody mass index QTL GWAS1266233 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)146288533162885332Human
597256832GWAS1352906_HAlzheimer disease, gastroesophageal reflux disease QTL GWAS1352906 (human)0.000003Alzheimer disease, gastroesophageal reflux disease146270182962701830Human
597336801GWAS1432875_HCOVID-19 QTL GWAS1432875 (human)0.000003COVID-19146288860662888607Human
407024446GWAS673422_Hunipolar depression QTL GWAS673422 (human)0.000004unipolar depression146285562962855630Human
597074923GWAS1170997_Hintelligence QTL GWAS1170997 (human)5e-08intelligence146290274762902748Human

Markers in Region
D14S290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371463,532,853 - 63,533,118UniSTSGRCh37
Build 361462,602,606 - 62,602,871RGDNCBI36
Celera1443,583,439 - 43,583,702RGD
HuRef1443,699,741 - 43,700,004UniSTS
Marshfield Genetic Map1468.59UniSTS
Marshfield Genetic Map1468.59RGD
Genethon Genetic Map1458.5UniSTS
TNG Radiation Hybrid Map1420030.0UniSTS
Stanford-G3 RH Map142086.0UniSTS
GeneMap99-GB4 RH Map14146.65UniSTS
Whitehead-YAC Contig Map14 UniSTS
NCBI RH Map14635.0UniSTS
GeneMap99-G3 RH Map142134.0UniSTS
D14S1059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371463,548,038 - 63,548,186UniSTSGRCh37
Build 361462,617,791 - 62,617,939RGDNCBI36
Celera1443,598,622 - 43,598,768RGD
Cytogenetic Map14q23.1UniSTS
HuRef1443,714,924 - 43,715,070UniSTS
Marshfield Genetic Map1468.59RGD
Marshfield Genetic Map1468.59UniSTS
Genethon Genetic Map1458.5UniSTS
deCODE Assembly Map1462.58UniSTS
Whitehead-YAC Contig Map14 UniSTS
RH91702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371463,174,001 - 63,174,133UniSTSGRCh37
Build 361462,243,754 - 62,243,886RGDNCBI36
Celera1443,224,314 - 43,224,446RGD
Cytogenetic Map14q23.1UniSTS
HuRef1443,339,474 - 43,339,606UniSTS
GeneMap99-GB4 RH Map14143.39UniSTS
RH123385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371463,462,784 - 63,463,129UniSTSGRCh37
Build 361462,532,537 - 62,532,882RGDNCBI36
Celera1443,513,381 - 43,513,726RGD
Cytogenetic Map14q23.1UniSTS
HuRef1443,629,246 - 43,629,591UniSTS
TNG Radiation Hybrid Map1419977.0UniSTS
SHGC-52823  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371463,401,659 - 63,401,796UniSTSGRCh37
Build 361462,471,412 - 62,471,549RGDNCBI36
Celera1443,452,260 - 43,452,397RGD
Cytogenetic Map14q23.1UniSTS
HuRef1443,568,124 - 43,568,261UniSTS
TNG Radiation Hybrid Map1419935.0UniSTS
GeneMap99-G3 RH Map142127.0UniSTS
KCNH5_1311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371463,174,099 - 63,174,927UniSTSGRCh37
Build 361462,243,852 - 62,244,680RGDNCBI36
Celera1443,224,412 - 43,225,240RGD
HuRef1443,339,572 - 43,340,400UniSTS
D14S1251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371463,173,996 - 63,174,146UniSTSGRCh37
Build 361462,243,749 - 62,243,899RGDNCBI36
Celera1443,224,309 - 43,224,459RGD
Cytogenetic Map14q23.1UniSTS
HuRef1443,339,469 - 43,339,619UniSTS
Whitehead-YAC Contig Map14 UniSTS
UniSTS:496048  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371463,417,135 - 63,417,227UniSTSGRCh37
Build 361462,486,888 - 62,486,980RGDNCBI36
Celera1443,467,731 - 43,467,823RGD
HuRef1443,583,595 - 43,583,687UniSTS
D14S290  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q23.1UniSTS
TNG Radiation Hybrid Map1420030.0UniSTS
Stanford-G3 RH Map142086.0UniSTS
GeneMap99-GB4 RH Map14146.65UniSTS
NCBI RH Map14635.0UniSTS
GeneMap99-G3 RH Map142134.0UniSTS


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
654 1765 1032 647 4168 685 1070 4 167 410 69 1281 2522 2590 31 3182 470 1316 780 104 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_139318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF418206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF472412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF493798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL132666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW628656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU147537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U69185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000322893   ⟹   ENSP00000321427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1462,699,464 - 63,045,458 (-)Ensembl
Ensembl Acc Id: ENST00000394964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1462,949,818 - 63,102,037 (-)Ensembl
Ensembl Acc Id: ENST00000394968   ⟹   ENSP00000378419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1462,712,240 - 63,101,866 (-)Ensembl
Ensembl Acc Id: ENST00000420622   ⟹   ENSP00000395439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1462,707,567 - 63,045,186 (-)Ensembl
RefSeq Acc Id: NM_139318   ⟹   NP_647479
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381462,699,464 - 63,045,458 (-)NCBI
GRCh371463,173,291 - 63,511,956 (-)NCBI
Build 361462,243,698 - 62,581,708 (-)NCBI Archive
Celera1443,224,258 - 43,619,167 (-)RGD
HuRef1443,338,760 - 43,678,420 (-)NCBI
CHM1_11463,112,492 - 63,451,134 (-)NCBI
T2T-CHM13v2.01456,906,444 - 57,253,090 (-)NCBI
Sequence:
RefSeq Acc Id: NM_172375   ⟹   NP_758963
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381462,699,464 - 63,045,458 (-)NCBI
Build 361462,243,698 - 62,581,708 (-)NCBI Archive
Celera1443,224,258 - 43,619,167 (-)RGD
HuRef1443,338,760 - 43,678,420 (-)NCBI
CHM1_11463,112,496 - 63,451,134 (-)NCBI
T2T-CHM13v2.01456,906,444 - 57,253,090 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047431275   ⟹   XP_047287231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381462,779,748 - 63,045,458 (-)NCBI
RefSeq Acc Id: XM_054375872   ⟹   XP_054231847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01456,987,376 - 57,253,090 (-)NCBI
RefSeq Acc Id: NP_647479   ⟸   NM_139318
- Peptide Label: isoform 1
- UniProtKB: C9JP98 (UniProtKB/Swiss-Prot),   Q8NCM2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_758963   ⟸   NM_172375
- Peptide Label: isoform 3
- UniProtKB: Q8NCM2 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000321427   ⟸   ENST00000322893
Ensembl Acc Id: ENSP00000378419   ⟸   ENST00000394968
Ensembl Acc Id: ENSP00000395439   ⟸   ENST00000420622
RefSeq Acc Id: XP_047287231   ⟸   XM_047431275
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054231847   ⟸   XM_054375872
- Peptide Label: isoform X1
Protein Domains
PAC   PAS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NCM2-F1-model_v2 AlphaFold Q8NCM2 1-988 view protein structure

Promoters
RGD ID:6791689
Promoter ID:HG_KWN:19537
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000394964,   NM_172375,   OTTHUMT00000072520
Position:
Human AssemblyChrPosition (strand)Source
Build 361462,581,476 - 62,582,477 (-)MPROMDB
RGD ID:6791688
Promoter ID:HG_KWN:19538
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_172376,   UC001XGA.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361462,638,506 - 62,639,006 (-)MPROMDB
RGD ID:7227815
Promoter ID:EPDNEW_H19653
Type:initiation region
Name:KCNH5_1
Description:potassium voltage-gated channel subfamily H member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19654  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381463,045,427 - 63,045,487EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6254 AgrOrtholog
COSMIC KCNH5 COSMIC
Ensembl Genes ENSG00000140015 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000322893 ENTREZGENE
  ENST00000322893.12 UniProtKB/Swiss-Prot
  ENST00000394968 ENTREZGENE
  ENST00000394968.2 UniProtKB/Swiss-Prot
  ENST00000420622 ENTREZGENE
  ENST00000420622.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.1200.260 UniProtKB/Swiss-Prot
  1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.10 UniProtKB/Swiss-Prot
  PAS domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000140015 GTEx
HGNC ID HGNC:6254 ENTREZGENE
Human Proteome Map KCNH5 Human Proteome Map
InterPro cNMP-bd-like UniProtKB/Swiss-Prot
  cNMP-bd_dom UniProtKB/Swiss-Prot
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_EAG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_EAG/ELK/ERG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KCNH_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS-assoc_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RmlC-like_jellyroll UniProtKB/Swiss-Prot
KEGG Report hsa:27133 UniProtKB/Swiss-Prot
NCBI Gene 27133 ENTREZGENE
OMIM 605716 OMIM
PANTHER PTHR10217:SF533 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VOLTAGE AND LIGAND GATED POTASSIUM CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam cNMP_binding UniProtKB/Swiss-Prot
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30040 PharmGKB
PRINTS EAGCHANLFMLY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EAGCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CNMP_BINDING_3 UniProtKB/Swiss-Prot
  PAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART cNMP UniProtKB/Swiss-Prot
  PAC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51206 UniProtKB/Swiss-Prot
  SSF55785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9JP98 ENTREZGENE
  KCNH5_HUMAN UniProtKB/Swiss-Prot
  Q86XI1_HUMAN UniProtKB/TrEMBL
  Q8NCM2 ENTREZGENE
UniProt Secondary C9JI08 UniProtKB/TrEMBL
  C9JP98 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNH5  potassium voltage-gated channel subfamily H member 5  KCNH5  potassium channel, voltage gated eag related subfamily H, member 5  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNH5  potassium channel, voltage gated eag related subfamily H, member 5  KCNH5  potassium voltage-gated channel, subfamily H (eag-related), member 5  Symbol and/or name change 5135510 APPROVED