GLRA1 (glycine receptor alpha 1) - Rat Genome Database

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Gene: GLRA1 (glycine receptor alpha 1) Homo sapiens
Analyze
Symbol: GLRA1
Name: glycine receptor alpha 1
RGD ID: 730939
HGNC Page HGNC:4326
Description: Enables several functions, including cation binding activity; ligand-gated monoatomic ion channel activity; and taurine binding activity. Involved in several processes, including cellular response to ethanol; cellular response to zinc ion; and chloride transmembrane transport. Acts upstream of or within regulation of membrane potential and startle response. Located in intracellular membrane-bounded organelle and plasma membrane. Implicated in hyperekplexia 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: glycine receptor 48 kDa subunit; glycine receptor strychnine-binding subunit; glycine receptor subunit alpha-1; glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome); HKPX1; MGC138878; MGC138879; STHE
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
GRCh385151,822,513 - 151,924,851 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5151,822,513 - 151,924,851 (-)EnsemblGRCh38hg38GRCh38
GRCh375151,202,074 - 151,304,412 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365151,182,361 - 151,284,596 (-)NCBINCBI36Build 36hg18NCBI36
Build 345151,182,360 - 151,284,596NCBI
Celera5147,283,467 - 147,385,844 (-)NCBICelera
Cytogenetic Map5q33.1NCBI
HuRef5146,347,483 - 146,449,349 (-)NCBIHuRef
CHM1_15150,634,496 - 150,736,836 (-)NCBICHM1_1
T2T-CHM13v2.05152,361,497 - 152,463,867 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

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

References - curated
# Reference Title Reference Citation
1. The activation mechanism of alpha1 homomeric glycine receptors. Beato M, etal., J Neurosci. 2004 Jan 28;24(4):895-906.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1334371   PMID:1355335   PMID:1845981   PMID:2155780   PMID:7506679   PMID:7518444   PMID:7611730   PMID:7806244   PMID:7881416   PMID:7920629   PMID:7925268   PMID:7981700  
PMID:8125298   PMID:8137830   PMID:8298642   PMID:8571969   PMID:8651283   PMID:8717357   PMID:8733061   PMID:8973915   PMID:9067762   PMID:9350397   PMID:9920650   PMID:10514101  
PMID:10639099   PMID:11580237   PMID:11702206   PMID:11751269   PMID:11781706   PMID:11929858   PMID:11973623   PMID:11981020   PMID:11981021   PMID:11994009   PMID:12080117   PMID:12237328  
PMID:12239220   PMID:12356883   PMID:12477932   PMID:12661758   PMID:12667090   PMID:12679369   PMID:12740384   PMID:12746425   PMID:12766618   PMID:12826676   PMID:12954867   PMID:14525990  
PMID:14563849   PMID:14593111   PMID:14698963   PMID:14981077   PMID:15147510   PMID:15287733   PMID:15365143   PMID:15489161   PMID:15489334   PMID:15748848   PMID:15771552   PMID:15951389  
PMID:15952785   PMID:16078201   PMID:16109711   PMID:16144831   PMID:16344560   PMID:16361257   PMID:16832093   PMID:16941485   PMID:17040914   PMID:17181559   PMID:17433503   PMID:17434460  
PMID:17469203   PMID:17534957   PMID:17536053   PMID:17655760   PMID:17655979   PMID:17887775   PMID:18036150   PMID:18043720   PMID:18292428   PMID:18658152   PMID:18690053   PMID:18710260  
PMID:18806798   PMID:18852446   PMID:19049967   PMID:19073849   PMID:19086053   PMID:19286654   PMID:19626554   PMID:19705103   PMID:19732286   PMID:19861413   PMID:19874574   PMID:19959465  
PMID:20198385   PMID:20301437   PMID:20631190   PMID:20959090   PMID:20959630   PMID:21414903   PMID:21463577   PMID:21873635   PMID:21917927   PMID:21955162   PMID:22037201   PMID:22132222  
PMID:22264702   PMID:22279218   PMID:22816018   PMID:22995908   PMID:23035114   PMID:23090334   PMID:23834509   PMID:23994010   PMID:24097980   PMID:24108130   PMID:24970905   PMID:25079583  
PMID:25356525   PMID:25568133   PMID:25572390   PMID:25730860   PMID:25973519   PMID:26079326   PMID:26845851   PMID:27226610   PMID:27923639   PMID:28174298   PMID:28758885   PMID:28883437  
PMID:29149236   PMID:29941455   PMID:30721695   PMID:30862715   PMID:30866851   PMID:31757808   PMID:32296183   PMID:32354853   PMID:32445491   PMID:35526563   PMID:36434917  


Genomics

Comparative Map Data
GLRA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385151,822,513 - 151,924,851 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5151,822,513 - 151,924,851 (-)EnsemblGRCh38hg38GRCh38
GRCh375151,202,074 - 151,304,412 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365151,182,361 - 151,284,596 (-)NCBINCBI36Build 36hg18NCBI36
Build 345151,182,360 - 151,284,596NCBI
Celera5147,283,467 - 147,385,844 (-)NCBICelera
Cytogenetic Map5q33.1NCBI
HuRef5146,347,483 - 146,449,349 (-)NCBIHuRef
CHM1_15150,634,496 - 150,736,836 (-)NCBICHM1_1
T2T-CHM13v2.05152,361,497 - 152,463,867 (-)NCBIT2T-CHM13v2.0
Glra1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391155,405,065 - 55,499,024 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1155,405,064 - 55,499,024 (-)EnsemblGRCm39 Ensembl
GRCm381155,514,239 - 55,608,198 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1155,514,238 - 55,608,198 (-)EnsemblGRCm38mm10GRCm38
MGSCv371155,328,315 - 55,421,292 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361155,358,236 - 55,451,213 (-)NCBIMGSCv36mm8
Celera1160,300,816 - 60,360,053 (-)NCBICelera
Cytogenetic Map11B1.3NCBI
cM Map1133.12NCBI
Glra1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81040,128,284 - 40,228,612 (-)NCBIGRCr8
mRatBN7.21039,625,853 - 39,727,897 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1039,629,459 - 39,727,162 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1044,313,228 - 44,411,116 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01043,803,339 - 43,901,228 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01039,307,010 - 39,404,890 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01040,851,955 - 40,954,364 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1040,855,559 - 40,953,651 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01040,687,069 - 40,785,100 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41040,922,867 - 41,021,767 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11040,936,489 - 41,035,390 (-)NCBI
Celera1038,958,969 - 39,055,009 (-)NCBICelera
Cytogenetic Map10q22NCBI
Glra1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554086,236,092 - 6,333,166 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554086,236,092 - 6,333,166 (-)NCBIChiLan1.0ChiLan1.0
GLRA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24147,050,625 - 147,153,444 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15145,190,265 - 145,292,989 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05147,245,741 - 147,348,555 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15153,248,488 - 153,350,573 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5153,248,488 - 153,350,567 (-)Ensemblpanpan1.1panPan2
GLRA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1457,443,094 - 57,541,494 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl457,443,999 - 57,528,376 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha457,296,776 - 57,348,297 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0457,919,593 - 57,971,180 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl457,885,421 - 57,971,013 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1457,735,798 - 57,787,335 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0457,834,258 - 57,885,784 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0458,337,576 - 58,389,066 (+)NCBIUU_Cfam_GSD_1.0
Glra1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213112,367,383 - 112,460,891 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493651510,817,422 - 10,896,958 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493651510,816,712 - 10,896,958 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GLRA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1671,142,198 - 71,230,344 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11671,140,751 - 71,236,867 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21677,317,685 - 77,407,159 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GLRA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12354,384,452 - 54,485,957 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2354,387,229 - 54,484,372 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603423,216,388 - 23,318,088 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Glra1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473337,153,863 - 37,235,485 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473337,153,348 - 37,238,201 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GLRA1
439 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000171.4(GLRA1):c.610G>A (p.Val204Met) single nucleotide variant Hereditary hyperekplexia [RCV001293435]|Hyperekplexia 1 [RCV000554793] Chr5:151855127 [GRCh38]
Chr5:151234688 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) single nucleotide variant GLRA1-related disorder [RCV003924880]|Hereditary hyperekplexia [RCV001507199]|Hyperekplexia 1 [RCV000031885]|not provided [RCV001705618]|not specified [RCV000454994] Chr5:151822915 [GRCh38]
Chr5:151202476 [GRCh37]
Chr5:5q33.1		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000171.4(GLRA1):c.299G>A (p.Arg100His) single nucleotide variant Hereditary hyperekplexia [RCV001376551]|Hyperekplexia 1 [RCV000031886] Chr5:151859962 [GRCh38]
Chr5:151239523 [GRCh37]
Chr5:5q33.1		 pathogenic|likely pathogenic|uncertain significance
NM_000171.4(GLRA1):c.737G>A (p.Arg246Gln) single nucleotide variant Hereditary hyperekplexia [RCV001852633]|Hyperekplexia 1 [RCV000031887] Chr5:151851565 [GRCh38]
Chr5:151231126 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.801G>C (p.Trp267Cys) single nucleotide variant Hyperekplexia 1 [RCV000031888] Chr5:151851501 [GRCh38]
Chr5:151231062 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.892T>A (p.Ser298Thr) single nucleotide variant Hyperekplexia 1 [RCV000031891] Chr5:151851410 [GRCh38]
Chr5:151230971 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.920A>C (p.Tyr307Ser) single nucleotide variant Hyperekplexia 1 [RCV000031892] Chr5:151829060 [GRCh38]
Chr5:151208621 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.921del (p.Ser306_Tyr307insTer) deletion Hereditary hyperekplexia [RCV002228072]|Hyperekplexia 1 [RCV000031893] Chr5:151829059 [GRCh38]
Chr5:151208620 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.593G>C (p.Trp198Ser) single nucleotide variant Hyperekplexia 1 [RCV000144418] Chr5:151855144 [GRCh38]
Chr5:151234705 [GRCh37]
Chr5:5q33.1		 uncertain significance|not provided
NM_000171.3(GLRA1):c.(?_-287)_697+?del deletion Hyperekplexia 1 [RCV000033897] Chr5:151855040..151924836 [GRCh38]
Chr5:151234601..151304397 [GRCh37]
Chr5:5q33.1		 pathogenic|likely pathogenic
NM_000171.4(GLRA1):c.896G>T (p.Arg299Leu) single nucleotide variant Hereditary hyperekplexia [RCV002228030]|Hyperekplexia 1 [RCV000017438]|not provided [RCV004589516] Chr5:151851406 [GRCh38]
Chr5:151230967 [GRCh37]
Chr5:5q33.1		 pathogenic|likely pathogenic
NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln) single nucleotide variant Hereditary hyperekplexia [RCV001376594]|Hyperekplexia 1 [RCV000017439]|Sleep myoclonus [RCV001256113]|not provided [RCV001818164] Chr5:151851406 [GRCh38]
Chr5:151230967 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.815T>A (p.Ile272Asn) single nucleotide variant Hyperekplexia 1 [RCV000017440] Chr5:151851487 [GRCh38]
Chr5:151231048 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.920A>G (p.Tyr307Cys) single nucleotide variant Hereditary hyperekplexia [RCV001376583]|Hyperekplexia 1 [RCV000017441] Chr5:151829060 [GRCh38]
Chr5:151208621 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.882G>C (p.Gln294His) single nucleotide variant Hyperekplexia 1 [RCV000017442] Chr5:151851420 [GRCh38]
Chr5:151230981 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.910A>G (p.Lys304Glu) single nucleotide variant Hyperekplexia 1 [RCV000017443]|not provided [RCV001268225] Chr5:151851392 [GRCh38]
Chr5:151230953 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.832C>A (p.Pro278Thr) single nucleotide variant Hyperekplexia 1 [RCV000017444] Chr5:151851470 [GRCh38]
Chr5:151231031 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.298del (p.Arg100fs) deletion Hereditary hyperekplexia [RCV001376578]|Hyperekplexia 1 [RCV000017445] Chr5:151859963 [GRCh38]
Chr5:151239524 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.523A>G (p.Met175Val) single nucleotide variant Hereditary hyperekplexia [RCV001328517]|Hyperekplexia 1 [RCV000017446] Chr5:151856337 [GRCh38]
Chr5:151235898 [GRCh37]
Chr5:5q33.1		 pathogenic|likely pathogenic|uncertain significance
NM_000171.4(GLRA1):c.690C>A (p.Tyr230Ter) single nucleotide variant Hyperekplexia 1 [RCV000017447] Chr5:151855047 [GRCh38]
Chr5:151234608 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.862G>A (p.Val288Met) single nucleotide variant GLRA1-related disorder [RCV003894811]|Hyperekplexia 1 [RCV000017448] Chr5:151851440 [GRCh38]
Chr5:151231001 [GRCh37]
Chr5:5q33.1		 pathogenic|uncertain significance
NM_000171.4(GLRA1):c.777C>G (p.Ser259Arg) single nucleotide variant Hyperekplexia 1 [RCV000017449] Chr5:151851525 [GRCh38]
Chr5:151231086 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_001146040.1(GLRA1):c.(?_-287)_(912+?)del deletion Hyperekplexia 1 [RCV000017450] Chr5:5q32 pathogenic
NM_000171.4(GLRA1):c.971C>A (p.Ser324Ter) single nucleotide variant Hereditary hyperekplexia [RCV001376595]|Hyperekplexia 1 [RCV000017451]|not provided [RCV000760469] Chr5:151829009 [GRCh38]
Chr5:151208570 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.884G>A (p.Ser295Asn) single nucleotide variant Hyperekplexia 1 [RCV000017452] Chr5:151851418 [GRCh38]
Chr5:151230979 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.1246G>A (p.Asp416Asn) single nucleotide variant Hyperekplexia 1 [RCV000656459] Chr5:151822777 [GRCh38]
Chr5:151202338 [GRCh37]
Chr5:5q33.1		 likely pathogenic
NM_000171.4(GLRA1):c.1179C>T (p.Pro393=) single nucleotide variant GLRA1-related disorder [RCV003942788]|Hereditary hyperekplexia [RCV000552524] Chr5:151822844 [GRCh38]
Chr5:151202405 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.292G>A (p.Asp98Asn) single nucleotide variant Hereditary hyperekplexia [RCV002231384] Chr5:151859969 [GRCh38]
Chr5:151239530 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.536C>T (p.Thr179Ile) single nucleotide variant Hereditary hyperekplexia [RCV002231756] Chr5:151856324 [GRCh38]
Chr5:151235885 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.477-1G>A single nucleotide variant Hyperekplexia 1 [RCV000576251] Chr5:151856384 [GRCh38]
Chr5:151235945 [GRCh37]
Chr5:5q33.1		 pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3		 pathogenic
GRCh38/hg38 5q33.1(chr5:151913103-151951536)x3 copy number gain See cases [RCV000053314] Chr5:151913103..151951536 [GRCh38]
Chr5:151292664..151331097 [GRCh37]
Chr5:151272857..151311290 [NCBI36]
Chr5:5q33.1		 uncertain significance
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2		 pathogenic
NM_001146040.1(GLRA1):c.124C>T (p.Leu42=) single nucleotide variant Malignant melanoma [RCV000066785] Chr5:151892371 [GRCh38]
Chr5:151271932 [GRCh37]
Chr5:151252125 [NCBI36]
Chr5:5q33.1		 not provided
NM_000171.4(GLRA1):c.283C>T (p.Gln95Ter) single nucleotide variant Hyperekplexia 1 [RCV001333270] Chr5:151859978 [GRCh38]
Chr5:151239539 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.10T>G (p.Phe4Val) single nucleotide variant Hereditary hyperekplexia [RCV001312427] Chr5:151924540 [GRCh38]
Chr5:151304101 [GRCh37]
Chr5:5q33.1		 uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
NM_000171.4(GLRA1):c.1259G>A (p.Arg420His) single nucleotide variant Hereditary hyperekplexia [RCV000544789]|not provided [RCV000358468] Chr5:151822764 [GRCh38]
Chr5:151202325 [GRCh37]
Chr5:5q33.1		 pathogenic|likely pathogenic
NM_000171.4(GLRA1):c.459T>C (p.Asn153=) single nucleotide variant Hereditary hyperekplexia [RCV000547477] Chr5:151859802 [GRCh38]
Chr5:151239363 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1041G>A (p.Arg347=) single nucleotide variant Hereditary hyperekplexia [RCV001507130]|Hyperekplexia 1 [RCV000553304]|not provided [RCV001584071] Chr5:151828939 [GRCh38]
Chr5:151208500 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_000171.4(GLRA1):c.722G>A (p.Arg241Gln) single nucleotide variant Hereditary hyperekplexia [RCV001511994]|Hyperekplexia 1 [RCV000285803] Chr5:151851580 [GRCh38]
Chr5:151231141 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_000171.4(GLRA1):c.522C>T (p.Pro174=) single nucleotide variant Hereditary hyperekplexia [RCV001391328]|Hyperekplexia 1 [RCV000540854] Chr5:151856338 [GRCh38]
Chr5:151235899 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_000171.4(GLRA1):c.36G>A (p.Trp12Ter) single nucleotide variant not provided [RCV000487619] Chr5:151924514 [GRCh38]
Chr5:151304075 [GRCh37]
Chr5:5q33.1		 likely pathogenic
NM_000171.4(GLRA1):c.50T>C (p.Phe17Ser) single nucleotide variant Hereditary hyperekplexia [RCV002231755]|Hyperekplexia 1 [RCV000525987]|Inborn genetic diseases [RCV004023976] Chr5:151924500 [GRCh38]
Chr5:151304061 [GRCh37]
Chr5:5q33.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000171.4(GLRA1):c.-14C>T single nucleotide variant Hyperekplexia [RCV000271071] Chr5:151924563 [GRCh38]
Chr5:151304124 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1181C>T (p.Pro394Leu) single nucleotide variant GLRA1-related disorder [RCV003922553]|Hereditary hyperekplexia [RCV001507239]|Hyperekplexia 1 [RCV001084138]|not provided [RCV000513929] Chr5:151822842 [GRCh38]
Chr5:151202403 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.-164C>T single nucleotide variant Hyperekplexia 1 [RCV000267559] Chr5:151924713 [GRCh38]
Chr5:151304274 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.198C>T (p.Asn66=) single nucleotide variant Hereditary hyperekplexia [RCV001420981]|Hyperekplexia 1 [RCV000912610] Chr5:151886775 [GRCh38]
Chr5:151266336 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.449G>A (p.Arg150Gln) single nucleotide variant Hereditary hyperekplexia [RCV002229894]|Hyperekplexia 1 [RCV000824427]|Inborn genetic diseases [RCV004021992] Chr5:151859812 [GRCh38]
Chr5:151239373 [GRCh37]
Chr5:5q33.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000171.4(GLRA1):c.723G>C (p.Arg241=) single nucleotide variant Hereditary hyperekplexia [RCV001507204]|Hyperekplexia 1 [RCV000533229]|not provided [RCV001613165] Chr5:151851579 [GRCh38]
Chr5:151231140 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_000171.4(GLRA1):c.390C>T (p.Asn130=) single nucleotide variant Hereditary hyperekplexia [RCV001507209]|Hyperekplexia 1 [RCV000558673]|not provided [RCV001591015] Chr5:151859871 [GRCh38]
Chr5:151239432 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_000171.4(GLRA1):c.993C>T (p.Ala331=) single nucleotide variant Hereditary hyperekplexia [RCV001507112]|Hyperekplexia 1 [RCV000547177]|not provided [RCV001712151] Chr5:151828987 [GRCh38]
Chr5:151208548 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_000171.4(GLRA1):c.1046G>A (p.Arg349Gln) single nucleotide variant Hereditary hyperekplexia [RCV001507110]|Hyperekplexia 1 [RCV000531875]|Inborn genetic diseases [RCV002520350]|not provided [RCV001653692] Chr5:151828934 [GRCh38]
Chr5:151208495 [GRCh37]
Chr5:5q33.1		 benign|likely benign|uncertain significance
NM_000171.4(GLRA1):c.-196C>T single nucleotide variant Hyperekplexia 1 [RCV000322750]|not provided [RCV001662323] Chr5:151924745 [GRCh38]
Chr5:151304306 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.23G>C (p.Arg8Pro) single nucleotide variant Hereditary hyperekplexia [RCV001420977]|Hyperekplexia 1 [RCV000538050] Chr5:151924527 [GRCh38]
Chr5:151304088 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_000171.4(GLRA1):c.1214G>A (p.Arg405Gln) single nucleotide variant Hereditary hyperekplexia [RCV001293441]|Hyperekplexia 1 [RCV000560505] Chr5:151822809 [GRCh38]
Chr5:151202370 [GRCh37]
Chr5:5q33.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000171.4(GLRA1):c.94G>A (p.Ala32Thr) single nucleotide variant Hereditary hyperekplexia [RCV001473321]|Hyperekplexia 1 [RCV000308500] Chr5:151892401 [GRCh38]
Chr5:151271962 [GRCh37]
Chr5:5q33.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000171.4(GLRA1):c.1341C>T (p.His447=) single nucleotide variant Hereditary hyperekplexia [RCV002058522]|Hyperekplexia 1 [RCV000366800] Chr5:151822682 [GRCh38]
Chr5:151202243 [GRCh37]
Chr5:5q33.1		 benign|likely benign|uncertain significance
NM_000171.4(GLRA1):c.253-14T>C single nucleotide variant Hyperekplexia 1 [RCV000312033] Chr5:151860022 [GRCh38]
Chr5:151239583 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.559+8T>G single nucleotide variant GLRA1-related disorder [RCV003932445]|Hereditary hyperekplexia [RCV001507131]|Hyperekplexia 1 [RCV000525056]|not provided [RCV001636978] Chr5:151856293 [GRCh38]
Chr5:151235854 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.117G>C (p.Ser39=) single nucleotide variant Hereditary hyperekplexia [RCV001507241]|Hyperekplexia 1 [RCV000530809]|not provided [RCV001591016] Chr5:151892378 [GRCh38]
Chr5:151271939 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_000171.4(GLRA1):c.1224C>T (p.Phe408=) single nucleotide variant Hereditary hyperekplexia [RCV001507206]|Hyperekplexia 1 [RCV000530015]|not provided [RCV001618637] Chr5:151822799 [GRCh38]
Chr5:151202360 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.1333G>T (p.Asp445Tyr) single nucleotide variant Hyperekplexia 1 [RCV000277053] Chr5:151822690 [GRCh38]
Chr5:151202251 [GRCh37]
Chr5:5q33.1		 uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
NM_000171.4(GLRA1):c.277C>T (p.Arg93Trp) single nucleotide variant Hereditary hyperekplexia [RCV001853386]|Hyperekplexia 1 [RCV000490459] Chr5:151859984 [GRCh38]
Chr5:151239545 [GRCh37]
Chr5:5q33.1		 likely pathogenic
NM_000171.4(GLRA1):c.-80G>A single nucleotide variant Hyperekplexia 1 [RCV000302849] Chr5:151924629 [GRCh38]
Chr5:151304190 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1010G>A (p.Arg337Gln) single nucleotide variant Hereditary hyperekplexia [RCV001358796]|Hyperekplexia 1 [RCV000528223]|Inborn genetic diseases [RCV003159810] Chr5:151828970 [GRCh38]
Chr5:151208531 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.697+9A>C single nucleotide variant Hereditary hyperekplexia [RCV002061270]|Hyperekplexia 1 [RCV000336033] Chr5:151855031 [GRCh38]
Chr5:151234592 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_000171.4(GLRA1):c.-271G>C single nucleotide variant Hyperekplexia 1 [RCV000372729] Chr5:151924820 [GRCh38]
Chr5:151304381 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.-130G>A single nucleotide variant Hyperekplexia 1 [RCV000357544] Chr5:151924679 [GRCh38]
Chr5:151304240 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.117G>A (p.Ser39=) single nucleotide variant Hereditary hyperekplexia [RCV000639752] Chr5:151892378 [GRCh38]
Chr5:151271939 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.483C>G (p.Thr161=) single nucleotide variant Hereditary hyperekplexia [RCV001424722] Chr5:151856377 [GRCh38]
Chr5:151235938 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.888C>A (p.Ser296=) single nucleotide variant Hereditary hyperekplexia [RCV002233480] Chr5:151851414 [GRCh38]
Chr5:151230975 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.609C>T (p.Ala203=) single nucleotide variant Hereditary hyperekplexia [RCV000539917] Chr5:151855128 [GRCh38]
Chr5:151234689 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1030C>T (p.Arg344Ter) single nucleotide variant Hereditary hyperekplexia [RCV000538375]|not provided [RCV001762554] Chr5:151828950 [GRCh38]
Chr5:151208511 [GRCh37]
Chr5:5q33.1		 pathogenic|likely pathogenic|uncertain significance
NM_000171.4(GLRA1):c.705C>G (p.Phe235Leu) single nucleotide variant not provided [RCV000414290] Chr5:151851597 [GRCh38]
Chr5:151231158 [GRCh37]
Chr5:5q33.1		 likely pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_000171.4(GLRA1):c.373G>A (p.Asp125Asn) single nucleotide variant not provided [RCV000437193] Chr5:151859888 [GRCh38]
Chr5:151239449 [GRCh37]
Chr5:5q33.1		 likely pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
NM_000171.4(GLRA1):c.869C>T (p.Thr290Ile) single nucleotide variant not provided [RCV000482253] Chr5:151851433 [GRCh38]
Chr5:151230994 [GRCh37]
Chr5:5q33.1		 likely pathogenic
NM_000171.4(GLRA1):c.947C>A (p.Ala316Glu) single nucleotide variant not provided [RCV000486352] Chr5:151829033 [GRCh38]
Chr5:151208594 [GRCh37]
Chr5:5q33.1		 likely pathogenic
GRCh37/hg19 5q33.1(chr5:151273629-151365881)x3 copy number gain See cases [RCV000510496] Chr5:151273629..151365881 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.139G>A (p.Gly47Arg) single nucleotide variant Hereditary hyperekplexia [RCV001865543]|not provided [RCV000493956] Chr5:151892356 [GRCh38]
Chr5:151271917 [GRCh37]
Chr5:5q33.1		 likely pathogenic|uncertain significance
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
NM_000171.4(GLRA1):c.284A>C (p.Gln95Pro) single nucleotide variant not provided [RCV000494602] Chr5:151859977 [GRCh38]
Chr5:151239538 [GRCh37]
Chr5:5q33.1		 likely pathogenic
GRCh37/hg19 5q33.1(chr5:151270937-151365881)x3 copy number gain See cases [RCV000511475] Chr5:151270937..151365881 [GRCh37]
Chr5:5q33.1		 likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_000171.4(GLRA1):c.85G>T (p.Ala29Ser) single nucleotide variant Hereditary hyperekplexia [RCV002231757] Chr5:151892410 [GRCh38]
Chr5:151271971 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.236T>C (p.Ile79Thr) single nucleotide variant Hereditary hyperekplexia [RCV002231383] Chr5:151886737 [GRCh38]
Chr5:151266298 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1295T>C (p.Met432Thr) single nucleotide variant Hereditary hyperekplexia [RCV000639748]|Hyperekplexia 1 [RCV001839015]|Inborn genetic diseases [RCV003243226] Chr5:151822728 [GRCh38]
Chr5:151202289 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.549A>C (p.Gln183His) single nucleotide variant Hereditary hyperekplexia [RCV002232626] Chr5:151856311 [GRCh38]
Chr5:151235872 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.859A>G (p.Thr287Ala) single nucleotide variant Hereditary hyperekplexia [RCV002232625] Chr5:151851443 [GRCh38]
Chr5:151231004 [GRCh37]
Chr5:5q33.1		 likely pathogenic
NM_000171.4(GLRA1):c.622G>A (p.Asp208Asn) single nucleotide variant Hereditary hyperekplexia [RCV002233479] Chr5:151855115 [GRCh38]
Chr5:151234676 [GRCh37]
Chr5:5q33.1		 uncertain significance
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2		 pathogenic
NM_000171.4(GLRA1):c.252+2T>C single nucleotide variant Hyperekplexia 1 [RCV000625824] Chr5:151886719 [GRCh38]
Chr5:151266280 [GRCh37]
Chr5:5q33.1		 pathogenic|likely pathogenic
NM_000171.4(GLRA1):c.391G>A (p.Glu131Lys) single nucleotide variant Hereditary hyperekplexia [RCV000537276]|Inborn genetic diseases [RCV002530053] Chr5:151859870 [GRCh38]
Chr5:151239431 [GRCh37]
Chr5:5q33.1		 pathogenic|likely pathogenic|uncertain significance
NM_000171.4(GLRA1):c.1174A>G (p.Asn392Asp) single nucleotide variant Hereditary hyperekplexia [RCV000639749] Chr5:151822849 [GRCh38]
Chr5:151202410 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_000171.4(GLRA1):c.793C>T (p.Leu265Phe) single nucleotide variant Hereditary hyperekplexia [RCV002232624] Chr5:151851509 [GRCh38]
Chr5:151231070 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.605G>A (p.Gly202Glu) single nucleotide variant Hereditary hyperekplexia [RCV000639746]|Inborn genetic diseases [RCV002544653] Chr5:151855132 [GRCh38]
Chr5:151234693 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1204GAG[1] (p.Glu403del) microsatellite Hereditary hyperekplexia [RCV000639745] Chr5:151822814..151822816 [GRCh38]
Chr5:151202375..151202377 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1325G>A (p.Arg442His) single nucleotide variant Hereditary hyperekplexia [RCV001312216]|Hyperekplexia 1 [RCV000639743]|not provided [RCV002298717] Chr5:151822698 [GRCh38]
Chr5:151202259 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1166A>C (p.Asn389Thr) single nucleotide variant Hereditary hyperekplexia [RCV000700290]|not provided [RCV003320731] Chr5:151822857 [GRCh38]
Chr5:151202418 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_000171.4(GLRA1):c.199G>A (p.Val67Met) single nucleotide variant GLRA1-related disorder [RCV003945720]|Hereditary hyperekplexia [RCV000698052]|not provided [RCV003319410] Chr5:151886774 [GRCh38]
Chr5:151266335 [GRCh37]
Chr5:5q33.1		 pathogenic|uncertain significance
NM_000171.4(GLRA1):c.476+5G>T single nucleotide variant Hereditary hyperekplexia [RCV002233357] Chr5:151859780 [GRCh38]
Chr5:151239341 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.525G>A (p.Met175Ile) single nucleotide variant Hereditary hyperekplexia [RCV002233166]|not specified [RCV003323687] Chr5:151856335 [GRCh38]
Chr5:151235896 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.854T>C (p.Ile285Thr) single nucleotide variant Hereditary hyperekplexia [RCV002233418] Chr5:151851448 [GRCh38]
Chr5:151231009 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.342C>A (p.Asp114Glu) single nucleotide variant Hereditary hyperekplexia [RCV002233422] Chr5:151859919 [GRCh38]
Chr5:151239480 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1058A>G (p.Lys353Arg) single nucleotide variant Hereditary hyperekplexia [RCV000686165]|not provided [RCV001756155] Chr5:151828922 [GRCh38]
Chr5:151208483 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.449G>C (p.Arg150Pro) single nucleotide variant Hyperekplexia 1 [RCV000706643] Chr5:151859812 [GRCh38]
Chr5:151239373 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.721C>T (p.Arg241Trp) single nucleotide variant Hereditary hyperekplexia [RCV002233641] Chr5:151851581 [GRCh38]
Chr5:151231142 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1142C>T (p.Ser381Leu) single nucleotide variant Hereditary hyperekplexia [RCV002233404] Chr5:151822881 [GRCh38]
Chr5:151202442 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1161C>G (p.Asn387Lys) single nucleotide variant Hereditary hyperekplexia [RCV000695479]|Inborn genetic diseases [RCV002532303] Chr5:151822862 [GRCh38]
Chr5:151202423 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_000171.4(GLRA1):c.164G>C (p.Arg55Thr) single nucleotide variant Hereditary hyperekplexia [RCV000695565] Chr5:151892331 [GRCh38]
Chr5:151271892 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.88C>A (p.Arg30Ser) single nucleotide variant Hereditary hyperekplexia [RCV000695805] Chr5:151892407 [GRCh38]
Chr5:151271968 [GRCh37]
Chr5:5q33.1		 uncertain significance
NC_000005.10:g.(?_151924474)_(151924569_?)del deletion Hereditary hyperekplexia [RCV001390206]|Hyperekplexia 1 [RCV000708027] Chr5:151924474..151924569 [GRCh38]
Chr5:151304035..151304130 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.994G>A (p.Val332Ile) single nucleotide variant Hereditary hyperekplexia [RCV000691362] Chr5:151828986 [GRCh38]
Chr5:151208547 [GRCh37]
Chr5:5q33.1		 pathogenic|uncertain significance
NM_000171.4(GLRA1):c.889G>A (p.Gly297Ser) single nucleotide variant Hereditary hyperekplexia [RCV000696689] Chr5:151851413 [GRCh38]
Chr5:151230974 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1296G>T (p.Met432Ile) single nucleotide variant Hereditary hyperekplexia [RCV001391318]|Hyperekplexia 1 [RCV000701237]|Inborn genetic diseases [RCV002534390] Chr5:151822727 [GRCh38]
Chr5:151202288 [GRCh37]
Chr5:5q33.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q33.1(chr5:151250248-151253444)x1 copy number loss not provided [RCV000745274] Chr5:151250248..151253444 [GRCh37]
Chr5:5q33.1		 benign
GRCh37/hg19 5q33.1(chr5:151274117-151357064)x3 copy number gain not provided [RCV000745275] Chr5:151274117..151357064 [GRCh37]
Chr5:5q33.1		 uncertain significance
GRCh37/hg19 5q33.1(chr5:151280333-151357064)x3 copy number gain not provided [RCV000745276] Chr5:151280333..151357064 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.657A>G (p.Glu219=) single nucleotide variant Hereditary hyperekplexia [RCV000960410] Chr5:151855080 [GRCh38]
Chr5:151234641 [GRCh37]
Chr5:5q33.1		 likely benign
NC_000005.10:g.151924903dup duplication not provided [RCV001645311] Chr5:151924883..151924884 [GRCh38]
Chr5:151304444..151304445 [GRCh37]
Chr5:5q33.1		 benign
NC_000005.10:g.151924901_151924903del deletion not provided [RCV001549798] Chr5:151924884..151924886 [GRCh38]
Chr5:151304445..151304447 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.972A>G (p.Ser324=) single nucleotide variant Hereditary hyperekplexia [RCV000901144] Chr5:151829008 [GRCh38]
Chr5:151208569 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.888C>T (p.Ser296=) single nucleotide variant GLRA1-related disorder [RCV003910425]|Hereditary hyperekplexia [RCV000883416] Chr5:151851414 [GRCh38]
Chr5:151230975 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.300C>T (p.Arg100=) single nucleotide variant Hereditary hyperekplexia [RCV001402408] Chr5:151859961 [GRCh38]
Chr5:151239522 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.93C>T (p.Ser31=) single nucleotide variant Hereditary hyperekplexia [RCV001428695] Chr5:151892402 [GRCh38]
Chr5:151271963 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.433T>C (p.Leu145=) single nucleotide variant Hereditary hyperekplexia [RCV001417479] Chr5:151859828 [GRCh38]
Chr5:151239389 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.559+1G>A single nucleotide variant Hyperekplexia 1 [RCV000995556] Chr5:151856300 [GRCh38]
Chr5:151235861 [GRCh37]
Chr5:5q33.1		 likely pathogenic
NM_000171.4(GLRA1):c.206G>A (p.Cys69Tyr) single nucleotide variant Hyperekplexia 1 [RCV000995557] Chr5:151886767 [GRCh38]
Chr5:151266328 [GRCh37]
Chr5:5q33.1		 likely pathogenic
NM_000171.4(GLRA1):c.1097C>A (p.Ala366Asp) single nucleotide variant Hereditary hyperekplexia [RCV001039432] Chr5:151822926 [GRCh38]
Chr5:151202487 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1153G>A (p.Ala385Thr) single nucleotide variant Hereditary hyperekplexia [RCV001056727] Chr5:151822870 [GRCh38]
Chr5:151202431 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_000171.4(GLRA1):c.696A>G (p.Thr232=) single nucleotide variant Hereditary hyperekplexia [RCV001328512]|Hyperekplexia 1 [RCV001059298]|not provided [RCV003442183] Chr5:151855041 [GRCh38]
Chr5:151234602 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_000171.4(GLRA1):c.732G>A (p.Leu244=) single nucleotide variant Hereditary hyperekplexia [RCV002240487] Chr5:151851570 [GRCh38]
Chr5:151231131 [GRCh37]
Chr5:5q33.1		 benign|uncertain significance
NM_000171.4(GLRA1):c.520C>T (p.Pro174Ser) single nucleotide variant Hereditary hyperekplexia [RCV002235571] Chr5:151856340 [GRCh38]
Chr5:151235901 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.56+2T>C single nucleotide variant Hyperekplexia 1 [RCV000779469] Chr5:151924492 [GRCh38]
Chr5:151304053 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.312T>C (p.Asn104=) single nucleotide variant not provided [RCV000975292] Chr5:151859949 [GRCh38]
Chr5:151239510 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1284C>T (p.Leu428=) single nucleotide variant Hereditary hyperekplexia [RCV001418450] Chr5:151822739 [GRCh38]
Chr5:151202300 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.913-8C>T single nucleotide variant Hereditary hyperekplexia [RCV000978563] Chr5:151829075 [GRCh38]
Chr5:151208636 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.915G>A (p.Val305=) single nucleotide variant Hereditary hyperekplexia [RCV000878178] Chr5:151829065 [GRCh38]
Chr5:151208626 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1060-4C>A single nucleotide variant Hereditary hyperekplexia [RCV001492322] Chr5:151822967 [GRCh38]
Chr5:151202528 [GRCh37]
Chr5:5q33.1		 likely benign
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) copy number gain Hunter-McAlpine craniosynostosis [RCV002280612] Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3		 pathogenic
NM_000171.4(GLRA1):c.1022A>G (p.Glu341Gly) single nucleotide variant Hereditary hyperekplexia [RCV000814488] Chr5:151828958 [GRCh38]
Chr5:151208519 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_000171.4(GLRA1):c.252+3G>A single nucleotide variant Hereditary hyperekplexia [RCV002235909] Chr5:151886718 [GRCh38]
Chr5:151266279 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.845G>A (p.Gly282Asp) single nucleotide variant Hereditary hyperekplexia [RCV002235016] Chr5:151851457 [GRCh38]
Chr5:151231018 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.31C>A (p.Leu11Ile) single nucleotide variant Hereditary hyperekplexia [RCV000811613] Chr5:151924519 [GRCh38]
Chr5:151304080 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1214G>T (p.Arg405Leu) single nucleotide variant Hereditary hyperekplexia [RCV002234698] Chr5:151822809 [GRCh38]
Chr5:151202370 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1199C>T (p.Ser400Phe) single nucleotide variant Hereditary hyperekplexia [RCV002234715]|Inborn genetic diseases [RCV004028023] Chr5:151822824 [GRCh38]
Chr5:151202385 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1253T>C (p.Ile418Thr) single nucleotide variant Hereditary hyperekplexia [RCV002234760]|Inborn genetic diseases [RCV004028189] Chr5:151822770 [GRCh38]
Chr5:151202331 [GRCh37]
Chr5:5q33.1		 uncertain significance
NC_000005.9:g.(?_151271852)_(151304130_?)dup duplication Hereditary hyperekplexia [RCV001350736]|Hyperekplexia 1 [RCV000795429] Chr5:151892291..151924569 [GRCh38]
Chr5:151271852..151304130 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1081C>T (p.Arg361Cys) single nucleotide variant Hereditary hyperekplexia [RCV002234362] Chr5:151822942 [GRCh38]
Chr5:151202503 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.798A>C (p.Ser266=) single nucleotide variant Hereditary hyperekplexia [RCV001443148] Chr5:151851504 [GRCh38]
Chr5:151231065 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.403del (p.His135fs) deletion Hyperekplexia 1 [RCV000825525] Chr5:151859858 [GRCh38]
Chr5:151239419 [GRCh37]
Chr5:5q33.1		 likely pathogenic
NM_000171.4(GLRA1):c.116C>T (p.Ser39Leu) single nucleotide variant Hereditary hyperekplexia [RCV000799592] Chr5:151892379 [GRCh38]
Chr5:151271940 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.517T>C (p.Phe173Leu) single nucleotide variant Hereditary hyperekplexia [RCV001068208] Chr5:151856343 [GRCh38]
Chr5:151235904 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1181C>G (p.Pro394Arg) single nucleotide variant Hereditary hyperekplexia [RCV001312209]|Hyperekplexia 1 [RCV001044575] Chr5:151822842 [GRCh38]
Chr5:151202403 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.106A>G (p.Met36Val) single nucleotide variant Hyperekplexia 1 [RCV001195888] Chr5:151892389 [GRCh38]
Chr5:151271950 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.44T>C (p.Ile15Thr) single nucleotide variant Hereditary hyperekplexia [RCV001215609]|not provided [RCV002462833] Chr5:151924506 [GRCh38]
Chr5:151304067 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1028T>C (p.Leu343Pro) single nucleotide variant Hereditary hyperekplexia [RCV001247572]|Inborn genetic diseases [RCV003166559] Chr5:151828952 [GRCh38]
Chr5:151208513 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1A>G (p.Met1Val) single nucleotide variant Hereditary hyperekplexia [RCV001220786] Chr5:151924549 [GRCh38]
Chr5:151304110 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.697+1G>A single nucleotide variant Hereditary hyperekplexia [RCV001209217] Chr5:151855039 [GRCh38]
Chr5:151234600 [GRCh37]
Chr5:5q33.1		 likely pathogenic
NM_000171.4(GLRA1):c.872T>C (p.Met291Thr) single nucleotide variant Hereditary hyperekplexia [RCV001237912] Chr5:151851430 [GRCh38]
Chr5:151230991 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.39G>C (p.Glu13Asp) single nucleotide variant Hereditary hyperekplexia [RCV001227121] Chr5:151924511 [GRCh38]
Chr5:151304072 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.101A>G (p.Lys34Arg) single nucleotide variant Hereditary hyperekplexia [RCV001206883] Chr5:151892394 [GRCh38]
Chr5:151271955 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.15T>A (p.Asn5Lys) single nucleotide variant Hereditary hyperekplexia [RCV001225417] Chr5:151924535 [GRCh38]
Chr5:151304096 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1082G>A (p.Arg361His) single nucleotide variant Hereditary hyperekplexia [RCV001221620] Chr5:151822941 [GRCh38]
Chr5:151202502 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1261A>G (p.Ile421Val) single nucleotide variant Hereditary hyperekplexia [RCV001241722] Chr5:151822762 [GRCh38]
Chr5:151202323 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.22C>T (p.Arg8Ter) single nucleotide variant GLRA1-related disorder [RCV003414028]|Hereditary hyperekplexia [RCV001229339]|Hyperekplexia 1 [RCV002497780] Chr5:151924528 [GRCh38]
Chr5:151304089 [GRCh37]
Chr5:5q33.1		 pathogenic|uncertain significance
NM_000171.4(GLRA1):c.184+6G>A single nucleotide variant Hereditary hyperekplexia [RCV001215447] Chr5:151892305 [GRCh38]
Chr5:151271866 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.697+8C>A single nucleotide variant Hereditary hyperekplexia [RCV001228463] Chr5:151855032 [GRCh38]
Chr5:151234593 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1093T>G (p.Ser365Ala) single nucleotide variant Hereditary hyperekplexia [RCV001068979] Chr5:151822930 [GRCh38]
Chr5:151202491 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.252+125_252+138del deletion not provided [RCV001576849] Chr5:151886583..151886596 [GRCh38]
Chr5:151266144..151266157 [GRCh37]
Chr5:5q33.1		 likely benign
NC_000005.10:g.151924919T>C single nucleotide variant not provided [RCV001550840] Chr5:151924919 [GRCh38]
Chr5:151304480 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.57-304C>T single nucleotide variant not provided [RCV001577389] Chr5:151892742 [GRCh38]
Chr5:151272303 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1059+252C>T single nucleotide variant not provided [RCV001548589] Chr5:151828669 [GRCh38]
Chr5:151208230 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.697+24C>T single nucleotide variant not provided [RCV001598289] Chr5:151855016 [GRCh38]
Chr5:151234577 [GRCh37]
Chr5:5q33.1		 benign
GRCh37/hg19 5q33.1(chr5:151264215-151547865)x0 copy number loss Seizure [RCV002284259] Chr5:151264215..151547865 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.987T>C (p.Tyr329=) single nucleotide variant not provided [RCV000982669] Chr5:151828993 [GRCh38]
Chr5:151208554 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1032A>G (p.Arg344=) single nucleotide variant Hereditary hyperekplexia [RCV001420994]|Hyperekplexia 1 [RCV000878107] Chr5:151828948 [GRCh38]
Chr5:151208509 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_000171.4(GLRA1):c.756G>C (p.Leu252=) single nucleotide variant not provided [RCV000927325] Chr5:151851546 [GRCh38]
Chr5:151231107 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.423A>G (p.Thr141=) single nucleotide variant Hereditary hyperekplexia [RCV001451654] Chr5:151859838 [GRCh38]
Chr5:151239399 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.378G>A (p.Leu126=) single nucleotide variant Hereditary hyperekplexia [RCV001473319] Chr5:151859883 [GRCh38]
Chr5:151239444 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.42C>A (p.Thr14=) single nucleotide variant Hereditary hyperekplexia [RCV000892062] Chr5:151924508 [GRCh38]
Chr5:151304069 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1245C>T (p.Ile415=) single nucleotide variant Hereditary hyperekplexia [RCV000937189] Chr5:151822778 [GRCh38]
Chr5:151202339 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.184+2T>C single nucleotide variant Hyperekplexia 1 [RCV001219176] Chr5:151892309 [GRCh38]
Chr5:151271870 [GRCh37]
Chr5:5q33.1		 likely pathogenic
NM_000171.4(GLRA1):c.569C>T (p.Thr190Met) single nucleotide variant Hereditary hyperekplexia [RCV001219177]|Hyperekplexia 1 [RCV002497748]|not provided [RCV001268800] Chr5:151855168 [GRCh38]
Chr5:151234729 [GRCh37]
Chr5:5q33.1		 pathogenic|likely pathogenic
NM_000171.4(GLRA1):c.1324C>T (p.Arg442Cys) single nucleotide variant Hereditary hyperekplexia [RCV001231966] Chr5:151822699 [GRCh38]
Chr5:151202260 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.698-2del deletion Hyperekplexia 1 [RCV001245198] Chr5:151851606 [GRCh38]
Chr5:151231167 [GRCh37]
Chr5:5q33.1		 likely pathogenic
NC_000005.10:g.151924903del deletion not provided [RCV001657167] Chr5:151924884 [GRCh38]
Chr5:151304445 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.476+56C>T single nucleotide variant not provided [RCV001595435] Chr5:151859729 [GRCh38]
Chr5:151239290 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.346T>C (p.Ser116Pro) single nucleotide variant Hyperekplexia 1 [RCV001563676] Chr5:151859915 [GRCh38]
Chr5:151239476 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.698-295T>C single nucleotide variant not provided [RCV001709813] Chr5:151851899 [GRCh38]
Chr5:151231460 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.697+310G>A single nucleotide variant not provided [RCV001560912] Chr5:151854730 [GRCh38]
Chr5:151234291 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.57-257G>C single nucleotide variant not provided [RCV001561192] Chr5:151892695 [GRCh38]
Chr5:151272256 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.126G>A (p.Leu42=) single nucleotide variant Hereditary hyperekplexia [RCV001066728] Chr5:151892369 [GRCh38]
Chr5:151271930 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_000171.4(GLRA1):c.57-176T>C single nucleotide variant not provided [RCV001592561] Chr5:151892614 [GRCh38]
Chr5:151272175 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.476+161G>A single nucleotide variant not provided [RCV001659388] Chr5:151859624 [GRCh38]
Chr5:151239185 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.476+40A>G single nucleotide variant not provided [RCV001641253] Chr5:151859745 [GRCh38]
Chr5:151239306 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.697+65A>G single nucleotide variant not provided [RCV001678359] Chr5:151854975 [GRCh38]
Chr5:151234536 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.185-96C>T single nucleotide variant not provided [RCV001586679] Chr5:151886884 [GRCh38]
Chr5:151266445 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.912+263C>T single nucleotide variant not provided [RCV001670501] Chr5:151851127 [GRCh38]
Chr5:151230688 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.1059+114G>A single nucleotide variant not provided [RCV001686688] Chr5:151828807 [GRCh38]
Chr5:151208368 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.477-95T>C single nucleotide variant not provided [RCV001676888] Chr5:151856478 [GRCh38]
Chr5:151236039 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.913-262A>G single nucleotide variant not provided [RCV001698783] Chr5:151829329 [GRCh38]
Chr5:151208890 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.185-9G>A single nucleotide variant Hereditary hyperekplexia [RCV002070945]|Hyperekplexia 1 [RCV001157820] Chr5:151886797 [GRCh38]
Chr5:151266358 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.477-5C>T single nucleotide variant GLRA1-related disorder [RCV003953541]|Hereditary hyperekplexia [RCV001407036]|Hyperekplexia 1 [RCV001156131] Chr5:151856388 [GRCh38]
Chr5:151235949 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_000171.4(GLRA1):c.560-184C>T single nucleotide variant not provided [RCV001670002] Chr5:151855361 [GRCh38]
Chr5:151234922 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.477-270A>G single nucleotide variant not provided [RCV001684979] Chr5:151856653 [GRCh38]
Chr5:151236214 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.-81C>G single nucleotide variant Hyperekplexia 1 [RCV001152343] Chr5:151924630 [GRCh38]
Chr5:151304191 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1040G>C (p.Arg347Thr) single nucleotide variant Hereditary hyperekplexia [RCV001047521] Chr5:151828940 [GRCh38]
Chr5:151208501 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.185-185G>A single nucleotide variant not provided [RCV001708582] Chr5:151886973 [GRCh38]
Chr5:151266534 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.542T>A (p.Ile181Asn) single nucleotide variant Hereditary hyperekplexia [RCV001067619]|Inborn genetic diseases [RCV004629442] Chr5:151856318 [GRCh38]
Chr5:151235879 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.252+198A>G single nucleotide variant not provided [RCV001643921] Chr5:151886523 [GRCh38]
Chr5:151266084 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.57-12C>T single nucleotide variant Hereditary hyperekplexia [RCV002072028]|not provided [RCV001549503] Chr5:151892450 [GRCh38]
Chr5:151272011 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_000171.4(GLRA1):c.1154C>A (p.Ala385Asp) single nucleotide variant Hereditary hyperekplexia [RCV001068362] Chr5:151822869 [GRCh38]
Chr5:151202430 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.325G>A (p.Asp109Asn) single nucleotide variant Hereditary hyperekplexia [RCV001228235] Chr5:151859936 [GRCh38]
Chr5:151239497 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1045C>T (p.Arg349Trp) single nucleotide variant Hereditary hyperekplexia [RCV002240381] Chr5:151828935 [GRCh38]
Chr5:151208496 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.346T>A (p.Ser116Thr) single nucleotide variant Hereditary hyperekplexia [RCV001206641] Chr5:151859915 [GRCh38]
Chr5:151239476 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1031G>A (p.Arg344Gln) single nucleotide variant Hereditary hyperekplexia [RCV002241001] Chr5:151828949 [GRCh38]
Chr5:151208510 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_000171.4(GLRA1):c.836C>T (p.Ala279Val) single nucleotide variant Hereditary hyperekplexia [RCV001233142] Chr5:151851466 [GRCh38]
Chr5:151231027 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.324C>T (p.Asp108=) single nucleotide variant Hereditary hyperekplexia [RCV001396623]|Hyperekplexia 1 [RCV001157819] Chr5:151859937 [GRCh38]
Chr5:151239498 [GRCh37]
Chr5:5q33.1		 benign|likely benign
NM_000171.4(GLRA1):c.49T>C (p.Phe17Leu) single nucleotide variant Hereditary hyperekplexia [RCV001054111]|Hyperekplexia 1 [RCV001803217] Chr5:151924501 [GRCh38]
Chr5:151304062 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.585C>T (p.Ile195=) single nucleotide variant Hyperekplexia 1 [RCV001156130] Chr5:151855152 [GRCh38]
Chr5:151234713 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.560-1G>C single nucleotide variant Hyperekplexia 1 [RCV001056641]|not provided [RCV004697037] Chr5:151855178 [GRCh38]
Chr5:151234739 [GRCh37]
Chr5:5q33.1		 likely pathogenic|uncertain significance
NM_000171.4(GLRA1):c.839G>A (p.Arg280His) single nucleotide variant Hereditary hyperekplexia [RCV001056831] Chr5:151851463 [GRCh38]
Chr5:151231024 [GRCh37]
Chr5:5q33.1		 pathogenic|likely pathogenic
NM_000171.4(GLRA1):c.252+233A>G single nucleotide variant not provided [RCV001540341] Chr5:151886488 [GRCh38]
Chr5:151266049 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.617T>G (p.Val206Gly) single nucleotide variant Hereditary hyperekplexia [RCV001303242] Chr5:151855120 [GRCh38]
Chr5:151234681 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1192T>C (p.Ser398Pro) single nucleotide variant Hereditary hyperekplexia [RCV001341836] Chr5:151822831 [GRCh38]
Chr5:151202392 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1174A>T (p.Asn392Tyr) single nucleotide variant Hereditary hyperekplexia [RCV001305680]|not provided [RCV002307724] Chr5:151822849 [GRCh38]
Chr5:151202410 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1274T>C (p.Met425Thr) single nucleotide variant Hereditary hyperekplexia [RCV001300975] Chr5:151822749 [GRCh38]
Chr5:151202310 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1210A>T (p.Met404Leu) single nucleotide variant Hereditary hyperekplexia [RCV001320832] Chr5:151822813 [GRCh38]
Chr5:151202374 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.56+5G>A single nucleotide variant Hereditary hyperekplexia [RCV001300160] Chr5:151924489 [GRCh38]
Chr5:151304050 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1069G>A (p.Ala357Thr) single nucleotide variant Hereditary hyperekplexia [RCV001314171] Chr5:151822954 [GRCh38]
Chr5:151202515 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.560-8C>T single nucleotide variant Hereditary hyperekplexia [RCV001392362] Chr5:151855185 [GRCh38]
Chr5:151234746 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.469A>G (p.Ser157Gly) single nucleotide variant Hereditary hyperekplexia [RCV001303826] Chr5:151859792 [GRCh38]
Chr5:151239353 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1163G>C (p.Ser388Thr) single nucleotide variant Hereditary hyperekplexia [RCV001373457] Chr5:151822860 [GRCh38]
Chr5:151202421 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.634_635del (p.Leu212fs) microsatellite Hereditary hyperekplexia [RCV001383034] Chr5:151855102..151855103 [GRCh38]
Chr5:151234663..151234664 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.1234G>A (p.Ala412Thr) single nucleotide variant Hereditary hyperekplexia [RCV001326254] Chr5:151822789 [GRCh38]
Chr5:151202350 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.143G>A (p.Arg48Lys) single nucleotide variant Hereditary hyperekplexia [RCV001364625] Chr5:151892352 [GRCh38]
Chr5:151271913 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.448C>T (p.Arg150Trp) single nucleotide variant Hereditary hyperekplexia [RCV001373688]|Inborn genetic diseases [RCV002548678] Chr5:151859813 [GRCh38]
Chr5:151239374 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.229G>T (p.Gly77Cys) single nucleotide variant Hereditary hyperekplexia [RCV001343650] Chr5:151886744 [GRCh38]
Chr5:151266305 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.664G>A (p.Asp222Asn) single nucleotide variant Hereditary hyperekplexia [RCV001322967] Chr5:151855073 [GRCh38]
Chr5:151234634 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.604G>C (p.Gly202Arg) single nucleotide variant Hereditary hyperekplexia [RCV001322153] Chr5:151855133 [GRCh38]
Chr5:151234694 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1046G>T (p.Arg349Leu) single nucleotide variant Hereditary hyperekplexia [RCV001309989] Chr5:151828934 [GRCh38]
Chr5:151208495 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1072G>A (p.Gly358Arg) single nucleotide variant Hereditary hyperekplexia [RCV001344398] Chr5:151822951 [GRCh38]
Chr5:151202512 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.608C>A (p.Ala203Asp) single nucleotide variant Hereditary hyperekplexia [RCV001373053] Chr5:151855129 [GRCh38]
Chr5:151234690 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.3G>T (p.Met1Ile) single nucleotide variant Hereditary hyperekplexia [RCV001373178] Chr5:151924547 [GRCh38]
Chr5:151304108 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.600A>T (p.Glu200Asp) single nucleotide variant Hereditary hyperekplexia [RCV001350727] Chr5:151855137 [GRCh38]
Chr5:151234698 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.4T>C (p.Tyr2His) single nucleotide variant Hereditary hyperekplexia [RCV001350343] Chr5:151924546 [GRCh38]
Chr5:151304107 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.151G>A (p.Gly51Arg) single nucleotide variant Hereditary hyperekplexia [RCV001366482] Chr5:151892344 [GRCh38]
Chr5:151271905 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1292A>G (p.Asn431Ser) single nucleotide variant Hereditary hyperekplexia [RCV001337685] Chr5:151822731 [GRCh38]
Chr5:151202292 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1265G>A (p.Gly422Asp) single nucleotide variant Hereditary hyperekplexia [RCV001370152] Chr5:151822758 [GRCh38]
Chr5:151202319 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1315A>C (p.Lys439Gln) single nucleotide variant Hereditary hyperekplexia [RCV001340358] Chr5:151822708 [GRCh38]
Chr5:151202269 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.89G>A (p.Arg30His) single nucleotide variant Hereditary hyperekplexia [RCV001313060]|not specified [RCV003323852] Chr5:151892406 [GRCh38]
Chr5:151271967 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_000171.4(GLRA1):c.753C>T (p.Tyr251=) single nucleotide variant Hereditary hyperekplexia [RCV001395222] Chr5:151851549 [GRCh38]
Chr5:151231110 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.33T>C (p.Leu11=) single nucleotide variant Hereditary hyperekplexia [RCV001401135] Chr5:151924517 [GRCh38]
Chr5:151304078 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1185T>C (p.Pro395=) single nucleotide variant Hereditary hyperekplexia [RCV001429195] Chr5:151822838 [GRCh38]
Chr5:151202399 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.913-8C>A single nucleotide variant Hereditary hyperekplexia [RCV001471040] Chr5:151829075 [GRCh38]
Chr5:151208636 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.297C>T (p.Pro99=) single nucleotide variant Hereditary hyperekplexia [RCV001467561] Chr5:151859964 [GRCh38]
Chr5:151239525 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.471C>T (p.Ser157=) single nucleotide variant Hereditary hyperekplexia [RCV001429878] Chr5:151859790 [GRCh38]
Chr5:151239351 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.191C>T (p.Pro64Leu) single nucleotide variant Hereditary hyperekplexia [RCV003597419]|Hyperekplexia 1 [RCV002250969] Chr5:151886782 [GRCh38]
Chr5:151266343 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1101T>C (p.Tyr367=) single nucleotide variant Hereditary hyperekplexia [RCV001443425] Chr5:151822922 [GRCh38]
Chr5:151202483 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.636G>A (p.Leu212=) single nucleotide variant Hereditary hyperekplexia [RCV001437469] Chr5:151855101 [GRCh38]
Chr5:151234662 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.858C>T (p.Thr286=) single nucleotide variant Hereditary hyperekplexia [RCV001430529] Chr5:151851444 [GRCh38]
Chr5:151231005 [GRCh37]
Chr5:5q33.1		 likely benign
NC_000005.9:g.(?_151266262)_(151266369_?)del deletion Hereditary hyperekplexia [RCV001390207] Chr5:151266262..151266369 [GRCh37]
Chr5:5q33.1		 pathogenic
NC_000005.9:g.(?_151239326)_(151239589_?)del deletion Hereditary hyperekplexia [RCV001390208] Chr5:151239326..151239589 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.1239G>A (p.Lys413=) single nucleotide variant Hereditary hyperekplexia [RCV001447128] Chr5:151822784 [GRCh38]
Chr5:151202345 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.697+33dup duplication not provided [RCV001534432] Chr5:151855001..151855002 [GRCh38]
Chr5:151234562..151234563 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.1293C>T (p.Asn431=) single nucleotide variant Hereditary hyperekplexia [RCV001435039] Chr5:151822730 [GRCh38]
Chr5:151202291 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.411T>C (p.His137=) single nucleotide variant Hereditary hyperekplexia [RCV001427459] Chr5:151859850 [GRCh38]
Chr5:151239411 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.54C>T (p.Phe18=) single nucleotide variant Hereditary hyperekplexia [RCV001440676] Chr5:151924496 [GRCh38]
Chr5:151304057 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.981A>G (p.Leu327=) single nucleotide variant Hereditary hyperekplexia [RCV001394293] Chr5:151828999 [GRCh38]
Chr5:151208560 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.51C>T (p.Phe17=) single nucleotide variant Hereditary hyperekplexia [RCV001505225] Chr5:151924499 [GRCh38]
Chr5:151304060 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.747T>C (p.Gly249=) single nucleotide variant Hereditary hyperekplexia [RCV001502039] Chr5:151851555 [GRCh38]
Chr5:151231116 [GRCh37]
Chr5:5q33.1		 likely benign
NC_000005.10:g.151924902_151924903del deletion not provided [RCV001695165] Chr5:151924884..151924885 [GRCh38]
Chr5:151304445..151304446 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.480C>T (p.Ile160=) single nucleotide variant Hereditary hyperekplexia [RCV001495575] Chr5:151856380 [GRCh38]
Chr5:151235941 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1045C>A (p.Arg349=) single nucleotide variant Hereditary hyperekplexia [RCV001486190] Chr5:151828935 [GRCh38]
Chr5:151208496 [GRCh37]
Chr5:5q33.1		 likely benign
NC_000005.10:g.151924900_151924903del deletion not provided [RCV001588666] Chr5:151924884..151924887 [GRCh38]
Chr5:151304445..151304448 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.477-173A>G single nucleotide variant not provided [RCV001619489] Chr5:151856556 [GRCh38]
Chr5:151236117 [GRCh37]
Chr5:5q33.1		 benign
NC_000005.10:g.151925079C>T single nucleotide variant not provided [RCV001592778] Chr5:151925079 [GRCh38]
Chr5:151304640 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.476+8C>T single nucleotide variant Hereditary hyperekplexia [RCV001500622] Chr5:151859777 [GRCh38]
Chr5:151239338 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.560-136dup duplication not provided [RCV001618870] Chr5:151855305..151855306 [GRCh38]
Chr5:151234866..151234867 [GRCh37]
Chr5:5q33.1		 benign
NC_000005.10:g.151924982G>C single nucleotide variant not provided [RCV001715963] Chr5:151924982 [GRCh38]
Chr5:151304543 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.936C>T (p.Asp312=) single nucleotide variant Hereditary hyperekplexia [RCV001505636] Chr5:151829044 [GRCh38]
Chr5:151208605 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.468C>T (p.Tyr156=) single nucleotide variant Hereditary hyperekplexia [RCV001481464] Chr5:151859793 [GRCh38]
Chr5:151239354 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.537A>C (p.Thr179=) single nucleotide variant Hereditary hyperekplexia [RCV001405788] Chr5:151856323 [GRCh38]
Chr5:151235884 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.698-9T>C single nucleotide variant Hereditary hyperekplexia [RCV001503744] Chr5:151851613 [GRCh38]
Chr5:151231174 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.560-4C>G single nucleotide variant Hereditary hyperekplexia [RCV001436896] Chr5:151855181 [GRCh38]
Chr5:151234742 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.429C>T (p.Asn143=) single nucleotide variant Hereditary hyperekplexia [RCV001471992] Chr5:151859832 [GRCh38]
Chr5:151239393 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.306C>T (p.Ala102=) single nucleotide variant Hereditary hyperekplexia [RCV001452608] Chr5:151859955 [GRCh38]
Chr5:151239516 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.570G>A (p.Thr190=) single nucleotide variant Hereditary hyperekplexia [RCV001472399] Chr5:151855167 [GRCh38]
Chr5:151234728 [GRCh37]
Chr5:5q33.1		 likely benign
NC_000005.10:g.151822488T>A single nucleotide variant not provided [RCV001539002] Chr5:151822488 [GRCh38]
Chr5:151202049 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.942G>A (p.Trp314Ter) single nucleotide variant not provided [RCV001727337] Chr5:151829038 [GRCh38]
Chr5:151208599 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.736C>T (p.Arg246Trp) single nucleotide variant Hereditary hyperekplexia [RCV002034594]|Hyperekplexia 1 [RCV001782203] Chr5:151851566 [GRCh38]
Chr5:151231127 [GRCh37]
Chr5:5q33.1		 pathogenic|likely pathogenic
NM_000171.4(GLRA1):c.229G>C (p.Gly77Arg) single nucleotide variant not provided [RCV001757148] Chr5:151886744 [GRCh38]
Chr5:151266305 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.165G>C (p.Arg55Ser) single nucleotide variant Hereditary hyperekplexia [RCV001868475]|not provided [RCV001767410] Chr5:151892330 [GRCh38]
Chr5:151271891 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.675C>A (p.Tyr225Ter) single nucleotide variant Hyperekplexia 1 [RCV001783385] Chr5:151855062 [GRCh38]
Chr5:151234623 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.543C>G (p.Ile181Met) single nucleotide variant Hereditary hyperekplexia [RCV002540467]|not provided [RCV001763737] Chr5:151856317 [GRCh38]
Chr5:151235878 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.937A>G (p.Ile313Val) single nucleotide variant Hereditary hyperekplexia [RCV001895898] Chr5:151829043 [GRCh38]
Chr5:151208604 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1237A>G (p.Lys413Glu) single nucleotide variant Hereditary hyperekplexia [RCV002003590] Chr5:151822786 [GRCh38]
Chr5:151202347 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.500C>T (p.Pro167Leu) single nucleotide variant Hereditary hyperekplexia [RCV002023443] Chr5:151856360 [GRCh38]
Chr5:151235921 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1158C>A (p.Asn386Lys) single nucleotide variant Hereditary hyperekplexia [RCV001945623]|not specified [RCV003987937] Chr5:151822865 [GRCh38]
Chr5:151202426 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.895C>T (p.Arg299Ter) single nucleotide variant Hereditary hyperekplexia [RCV001949676] Chr5:151851407 [GRCh38]
Chr5:151230968 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.958C>A (p.Leu320Ile) single nucleotide variant Hereditary hyperekplexia [RCV001914993] Chr5:151829022 [GRCh38]
Chr5:151208583 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.92C>T (p.Ser31Phe) single nucleotide variant Hereditary hyperekplexia [RCV001986748] Chr5:151892403 [GRCh38]
Chr5:151271964 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.378del (p.Phe127fs) deletion Hereditary hyperekplexia [RCV001948622] Chr5:151859883 [GRCh38]
Chr5:151239444 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.1136G>A (p.Gly379Asp) single nucleotide variant Hereditary hyperekplexia [RCV001914473] Chr5:151822887 [GRCh38]
Chr5:151202448 [GRCh37]
Chr5:5q33.1		 uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
NM_000171.4(GLRA1):c.845G>T (p.Gly282Val) single nucleotide variant Hereditary hyperekplexia [RCV002039375] Chr5:151851457 [GRCh38]
Chr5:151231018 [GRCh37]
Chr5:5q33.1		 uncertain significance
NC_000005.9:g.(?_151304045)_(151304110_?)dup duplication Hereditary hyperekplexia [RCV001872906] Chr5:151304045..151304110 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.550C>G (p.Leu184Val) single nucleotide variant Hereditary hyperekplexia [RCV001891273] Chr5:151856310 [GRCh38]
Chr5:151235871 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1180C>T (p.Pro394Ser) single nucleotide variant Hereditary hyperekplexia [RCV001911481] Chr5:151822843 [GRCh38]
Chr5:151202404 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1101T>A (p.Tyr367Ter) single nucleotide variant Hereditary hyperekplexia [RCV001987384] Chr5:151822922 [GRCh38]
Chr5:151202483 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.7A>G (p.Ser3Gly) single nucleotide variant Hereditary hyperekplexia [RCV002005579] Chr5:151924543 [GRCh38]
Chr5:151304104 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.266A>G (p.Asn89Ser) single nucleotide variant Hereditary hyperekplexia [RCV001965964] Chr5:151859995 [GRCh38]
Chr5:151239556 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1339C>A (p.His447Asn) single nucleotide variant Hereditary hyperekplexia [RCV001883728]|Seizure [RCV004556089] Chr5:151822684 [GRCh38]
Chr5:151202245 [GRCh37]
Chr5:5q33.1		 likely pathogenic|uncertain significance
NM_000171.4(GLRA1):c.186dup (p.Pro63fs) duplication Hereditary hyperekplexia [RCV001962956]|not provided [RCV003434369] Chr5:151886786..151886787 [GRCh38]
Chr5:151266347..151266348 [GRCh37]
Chr5:5q33.1		 pathogenic|likely pathogenic
NM_000171.4(GLRA1):c.1241A>T (p.Lys414Met) single nucleotide variant Hereditary hyperekplexia [RCV001887395] Chr5:151822782 [GRCh38]
Chr5:151202343 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.194T>G (p.Val65Gly) single nucleotide variant Hereditary hyperekplexia [RCV001902459] Chr5:151886779 [GRCh38]
Chr5:151266340 [GRCh37]
Chr5:5q33.1		 uncertain significance
NC_000005.10:g.151856298CA[3] microsatellite Hereditary hyperekplexia [RCV002048734] Chr5:151856297..151856298 [GRCh38]
Chr5:151235858..151235859 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.286T>C (p.Trp96Arg) single nucleotide variant Hereditary hyperekplexia [RCV001901262] Chr5:151859975 [GRCh38]
Chr5:151239536 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1080C>T (p.Gly360=) single nucleotide variant GLRA1-related disorder [RCV003892957]|Hereditary hyperekplexia [RCV001943701] Chr5:151822943 [GRCh38]
Chr5:151202504 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_000171.4(GLRA1):c.917C>A (p.Ser306Tyr) single nucleotide variant Hereditary hyperekplexia [RCV001954281]|not provided [RCV003324842] Chr5:151829063 [GRCh38]
Chr5:151208624 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1319T>C (p.Ile440Thr) single nucleotide variant Hereditary hyperekplexia [RCV001955867] Chr5:151822704 [GRCh38]
Chr5:151202265 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.36G>C (p.Trp12Cys) single nucleotide variant Hereditary hyperekplexia [RCV001899247] Chr5:151924514 [GRCh38]
Chr5:151304075 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.376del (p.Leu126fs) deletion Hereditary hyperekplexia [RCV001900431] Chr5:151859885 [GRCh38]
Chr5:151239446 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.770T>C (p.Ile257Thr) single nucleotide variant Hereditary hyperekplexia [RCV002047046] Chr5:151851532 [GRCh38]
Chr5:151231093 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.855_872del (p.Ile285_Thr290del) deletion Hereditary hyperekplexia [RCV001976843]|Inborn genetic diseases [RCV002573512] Chr5:151851430..151851447 [GRCh38]
Chr5:151230991..151231008 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1060-10T>A single nucleotide variant Hereditary hyperekplexia [RCV001876709] Chr5:151822973 [GRCh38]
Chr5:151202534 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_000171.4(GLRA1):c.778C>A (p.Leu260Met) single nucleotide variant Hereditary hyperekplexia [RCV002013551] Chr5:151851524 [GRCh38]
Chr5:151231085 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.473T>C (p.Ile158Thr) single nucleotide variant Hereditary hyperekplexia [RCV002013777] Chr5:151859788 [GRCh38]
Chr5:151239349 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1064A>G (p.Asp355Gly) single nucleotide variant Hereditary hyperekplexia [RCV002051194]|Inborn genetic diseases [RCV003355565] Chr5:151822959 [GRCh38]
Chr5:151202520 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.889G>C (p.Gly297Arg) single nucleotide variant Hereditary hyperekplexia [RCV002031924] Chr5:151851413 [GRCh38]
Chr5:151230974 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1331A>G (p.Glu444Gly) single nucleotide variant Hereditary hyperekplexia [RCV001878447] Chr5:151822692 [GRCh38]
Chr5:151202253 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.385G>A (p.Ala129Thr) single nucleotide variant Hereditary hyperekplexia [RCV001998355] Chr5:151859876 [GRCh38]
Chr5:151239437 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.559+5G>A single nucleotide variant Hereditary hyperekplexia [RCV001925288] Chr5:151856296 [GRCh38]
Chr5:151235857 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.436C>A (p.Leu146Ile) single nucleotide variant Hereditary hyperekplexia [RCV002035811] Chr5:151859825 [GRCh38]
Chr5:151239386 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1204G>A (p.Glu402Lys) single nucleotide variant Hereditary hyperekplexia [RCV001996344] Chr5:151822819 [GRCh38]
Chr5:151202380 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.347C>A (p.Ser116Tyr) single nucleotide variant Hereditary hyperekplexia [RCV001899645] Chr5:151859914 [GRCh38]
Chr5:151239475 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.942G>C (p.Trp314Cys) single nucleotide variant Hereditary hyperekplexia [RCV001998015] Chr5:151829038 [GRCh38]
Chr5:151208599 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1286T>C (p.Ile429Thr) single nucleotide variant Hereditary hyperekplexia [RCV001977539] Chr5:151822737 [GRCh38]
Chr5:151202298 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.57C>T (p.Ser19=) single nucleotide variant Hereditary hyperekplexia [RCV002027992] Chr5:151892438 [GRCh38]
Chr5:151271999 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.30C>T (p.Tyr10=) single nucleotide variant Hereditary hyperekplexia [RCV002148577] Chr5:151924520 [GRCh38]
Chr5:151304081 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1152C>T (p.Gly384=) single nucleotide variant Hereditary hyperekplexia [RCV002169400] Chr5:151822871 [GRCh38]
Chr5:151202432 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1134T>C (p.Asp378=) single nucleotide variant Hereditary hyperekplexia [RCV002089374] Chr5:151822889 [GRCh38]
Chr5:151202450 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1326T>C (p.Arg442=) single nucleotide variant Hereditary hyperekplexia [RCV002187630] Chr5:151822697 [GRCh38]
Chr5:151202258 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.476+10G>C single nucleotide variant Hereditary hyperekplexia [RCV002205869] Chr5:151859775 [GRCh38]
Chr5:151239336 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.912+11_912+12insCTC insertion Hereditary hyperekplexia [RCV002097298] Chr5:151851378..151851379 [GRCh38]
Chr5:151230939..151230940 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.798A>G (p.Ser266=) single nucleotide variant Hereditary hyperekplexia [RCV002096041] Chr5:151851504 [GRCh38]
Chr5:151231065 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.45T>C (p.Ile15=) single nucleotide variant Hereditary hyperekplexia [RCV002147863] Chr5:151924505 [GRCh38]
Chr5:151304066 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1110C>T (p.Gly370=) single nucleotide variant Hereditary hyperekplexia [RCV002078174] Chr5:151822913 [GRCh38]
Chr5:151202474 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.39G>A (p.Glu13=) single nucleotide variant Hereditary hyperekplexia [RCV002194237] Chr5:151924511 [GRCh38]
Chr5:151304072 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1059+14T>C single nucleotide variant Hereditary hyperekplexia [RCV002114657] Chr5:151828907 [GRCh38]
Chr5:151208468 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.912+7C>T single nucleotide variant Hereditary hyperekplexia [RCV002081122] Chr5:151851383 [GRCh38]
Chr5:151230944 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.913-6dup duplication Hereditary hyperekplexia [RCV002112662] Chr5:151829072..151829073 [GRCh38]
Chr5:151208633..151208634 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1179C>A (p.Pro393=) single nucleotide variant Hereditary hyperekplexia [RCV002093997] Chr5:151822844 [GRCh38]
Chr5:151202405 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.786T>C (p.Ile262=) single nucleotide variant Hereditary hyperekplexia [RCV002195744] Chr5:151851516 [GRCh38]
Chr5:151231077 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.560-9C>G single nucleotide variant Hereditary hyperekplexia [RCV002076353] Chr5:151855186 [GRCh38]
Chr5:151234747 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.294C>A (p.Asp98Glu) single nucleotide variant not provided [RCV002214364] Chr5:151859967 [GRCh38]
Chr5:151239528 [GRCh37]
Chr5:5q33.1		 likely pathogenic
NM_000171.4(GLRA1):c.912+10A>T single nucleotide variant Hereditary hyperekplexia [RCV002131574] Chr5:151851380 [GRCh38]
Chr5:151230941 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.253-18_253-16del deletion Hereditary hyperekplexia [RCV002095112] Chr5:151860024..151860026 [GRCh38]
Chr5:151239585..151239587 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1023G>A (p.Glu341=) single nucleotide variant Hereditary hyperekplexia [RCV002136981] Chr5:151828957 [GRCh38]
Chr5:151208518 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1213C>T (p.Arg405Ter) single nucleotide variant not specified [RCV002247864] Chr5:151822810 [GRCh38]
Chr5:151202371 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.559+12G>A single nucleotide variant Hereditary hyperekplexia [RCV002179224] Chr5:151856289 [GRCh38]
Chr5:151235850 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1059+18T>G single nucleotide variant Hereditary hyperekplexia [RCV002158050] Chr5:151828903 [GRCh38]
Chr5:151208464 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.378G>T (p.Leu126=) single nucleotide variant Hereditary hyperekplexia [RCV002102647] Chr5:151859883 [GRCh38]
Chr5:151239444 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.277C>A (p.Arg93=) single nucleotide variant Hereditary hyperekplexia [RCV002204720] Chr5:151859984 [GRCh38]
Chr5:151239545 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.253-7G>A single nucleotide variant Hereditary hyperekplexia [RCV002198961] Chr5:151860015 [GRCh38]
Chr5:151239576 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.150C>T (p.Ser50=) single nucleotide variant Hereditary hyperekplexia [RCV002142323] Chr5:151892345 [GRCh38]
Chr5:151271906 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.913-12C>A single nucleotide variant Hereditary hyperekplexia [RCV002082891] Chr5:151829079 [GRCh38]
Chr5:151208640 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1335C>T (p.Asp445=) single nucleotide variant Hereditary hyperekplexia [RCV002178766] Chr5:151822688 [GRCh38]
Chr5:151202249 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.912+8_912+9insTGCCGGCTCTCGAG insertion Hereditary hyperekplexia [RCV002137208] Chr5:151851381..151851382 [GRCh38]
Chr5:151230942..151230943 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.913-14C>A single nucleotide variant Hereditary hyperekplexia [RCV002100635] Chr5:151829081 [GRCh38]
Chr5:151208642 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.147C>G (p.Thr49=) single nucleotide variant Hereditary hyperekplexia [RCV002180026] Chr5:151892348 [GRCh38]
Chr5:151271909 [GRCh37]
Chr5:5q33.1		 likely benign
NC_000005.9:g.(?_150885126)_(151304110_?)dup duplication not provided [RCV003113208] Chr5:150885126..151304110 [GRCh37]
Chr5:5q33.1		 uncertain significance
NC_000005.9:g.(?_151230931)_(151304110_?)del deletion Hereditary hyperekplexia [RCV003122128] Chr5:151230931..151304110 [GRCh37]
Chr5:5q33.1		 pathogenic
NC_000005.9:g.(?_151304035)_(151304110_?)del deletion Hereditary hyperekplexia [RCV003122129] Chr5:151304035..151304110 [GRCh37]
Chr5:5q33.1		 pathogenic
NC_000005.9:g.(?_151271852)_(151304110_?)dup duplication Hereditary hyperekplexia [RCV003122130] Chr5:151271852..151304110 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.656A>G (p.Glu219Gly) single nucleotide variant not provided [RCV002265466] Chr5:151855081 [GRCh38]
Chr5:151234642 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.198C>G (p.Asn66Lys) single nucleotide variant Hereditary hyperekplexia [RCV002297597] Chr5:151886775 [GRCh38]
Chr5:151266336 [GRCh37]
Chr5:5q33.1		 uncertain significance
GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3 copy number gain not provided [RCV002474507] Chr5:150535183..172906793 [GRCh37]
Chr5:5q33.1-35.2		 pathogenic
NM_000171.4(GLRA1):c.1212G>A (p.Met404Ile) single nucleotide variant Hereditary hyperekplexia [RCV002298355] Chr5:151822811 [GRCh38]
Chr5:151202372 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.258_260del (p.Tyr86_Arg87delinsTer) deletion Hereditary hyperekplexia [RCV002861636] Chr5:151860001..151860003 [GRCh38]
Chr5:151239562..151239564 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.1157ACA[1] (p.Asn387del) microsatellite Hereditary hyperekplexia [RCV002615979] Chr5:151822861..151822863 [GRCh38]
Chr5:151202422..151202424 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.5A>G (p.Tyr2Cys) single nucleotide variant Hereditary hyperekplexia [RCV002819612] Chr5:151924545 [GRCh38]
Chr5:151304106 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.65_79del (p.Ala22_Ala26del) deletion Hereditary hyperekplexia [RCV002780150] Chr5:151892416..151892430 [GRCh38]
Chr5:151271977..151271991 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.184+19C>A single nucleotide variant Hereditary hyperekplexia [RCV002837608] Chr5:151892292 [GRCh38]
Chr5:151271853 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.328T>G (p.Ser110Ala) single nucleotide variant Inborn genetic diseases [RCV002753104] Chr5:151859933 [GRCh38]
Chr5:151239494 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1001T>C (p.Phe334Ser) single nucleotide variant Hereditary hyperekplexia [RCV003033124] Chr5:151828979 [GRCh38]
Chr5:151208540 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1176C>T (p.Asn392=) single nucleotide variant Hereditary hyperekplexia [RCV003015928] Chr5:151822847 [GRCh38]
Chr5:151202408 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.184+14T>G single nucleotide variant Hereditary hyperekplexia [RCV002857936] Chr5:151892297 [GRCh38]
Chr5:151271858 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1059+15_1059+18dup duplication Hereditary hyperekplexia [RCV002881606] Chr5:151828902..151828903 [GRCh38]
Chr5:151208463..151208464 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1321G>A (p.Val441Ile) single nucleotide variant Hereditary hyperekplexia [RCV002640333] Chr5:151822702 [GRCh38]
Chr5:151202263 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.185-15T>C single nucleotide variant Hereditary hyperekplexia [RCV003021407] Chr5:151886803 [GRCh38]
Chr5:151266364 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.913-16del deletion Hereditary hyperekplexia [RCV003081163] Chr5:151829083 [GRCh38]
Chr5:151208644 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.57-14C>G single nucleotide variant Hereditary hyperekplexia [RCV003078204] Chr5:151892452 [GRCh38]
Chr5:151272013 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.40A>G (p.Thr14Ala) single nucleotide variant Hereditary hyperekplexia [RCV003053840] Chr5:151924510 [GRCh38]
Chr5:151304071 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1313A>G (p.Tyr438Cys) single nucleotide variant Hereditary hyperekplexia [RCV003020728] Chr5:151822710 [GRCh38]
Chr5:151202271 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.278G>T (p.Arg93Leu) single nucleotide variant Hereditary hyperekplexia [RCV003037132] Chr5:151859983 [GRCh38]
Chr5:151239544 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.1074A>G (p.Gly358=) single nucleotide variant Hereditary hyperekplexia [RCV002639295] Chr5:151822949 [GRCh38]
Chr5:151202510 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1073G>A (p.Gly358Glu) single nucleotide variant Hereditary hyperekplexia [RCV003053839] Chr5:151822950 [GRCh38]
Chr5:151202511 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1140C>G (p.Ile380Met) single nucleotide variant Hereditary hyperekplexia [RCV002913072] Chr5:151822883 [GRCh38]
Chr5:151202444 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.932T>C (p.Ile311Thr) single nucleotide variant Hereditary hyperekplexia [RCV003077175] Chr5:151829048 [GRCh38]
Chr5:151208609 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.953G>T (p.Cys318Phe) single nucleotide variant Hereditary hyperekplexia [RCV003082769] Chr5:151829027 [GRCh38]
Chr5:151208588 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.381dup (p.Phe128fs) duplication Hereditary hyperekplexia [RCV002918200] Chr5:151859879..151859880 [GRCh38]
Chr5:151239440..151239441 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.1218A>C (p.Lys406Asn) single nucleotide variant Hereditary hyperekplexia [RCV003005768] Chr5:151822805 [GRCh38]
Chr5:151202366 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.47T>C (p.Val16Ala) single nucleotide variant Hereditary hyperekplexia [RCV002572752] Chr5:151924503 [GRCh38]
Chr5:151304064 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1033T>C (p.Phe345Leu) single nucleotide variant Inborn genetic diseases [RCV002874787] Chr5:151828947 [GRCh38]
Chr5:151208508 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1258C>T (p.Arg420Cys) single nucleotide variant Hereditary hyperekplexia [RCV002572487] Chr5:151822765 [GRCh38]
Chr5:151202326 [GRCh37]
Chr5:5q33.1		 likely pathogenic
NM_000171.4(GLRA1):c.68C>T (p.Ser23Phe) single nucleotide variant Hereditary hyperekplexia [RCV002790839] Chr5:151892427 [GRCh38]
Chr5:151271988 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.912+11T>C single nucleotide variant Hereditary hyperekplexia [RCV003056544] Chr5:151851379 [GRCh38]
Chr5:151230940 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1139_1162del (p.Ile380_Asn387del) deletion Hereditary hyperekplexia [RCV002982351] Chr5:151822861..151822884 [GRCh38]
Chr5:151202422..151202445 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.560-15C>T single nucleotide variant Hereditary hyperekplexia [RCV002741447] Chr5:151855192 [GRCh38]
Chr5:151234753 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1059+19G>A single nucleotide variant Hereditary hyperekplexia [RCV002643246] Chr5:151828902 [GRCh38]
Chr5:151208463 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.18T>A (p.Thr6=) single nucleotide variant Hereditary hyperekplexia [RCV002766761] Chr5:151924532 [GRCh38]
Chr5:151304093 [GRCh37]
Chr5:5q33.1		 likely benign
GRCh37/hg19 5q33.1(chr5:151271611-151328403)x3 copy number gain not provided [RCV002509018] Chr5:151271611..151328403 [GRCh37]
Chr5:5q33.1		 not provided
NM_000171.4(GLRA1):c.876C>G (p.Thr292=) single nucleotide variant Hereditary hyperekplexia [RCV002828583] Chr5:151851426 [GRCh38]
Chr5:151230987 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.631A>C (p.Thr211Pro) single nucleotide variant Hereditary hyperekplexia [RCV002601632] Chr5:151855106 [GRCh38]
Chr5:151234667 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1336G>A (p.Val446Ile) single nucleotide variant Hereditary hyperekplexia [RCV002651039] Chr5:151822687 [GRCh38]
Chr5:151202248 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.502A>G (p.Met168Val) single nucleotide variant Hereditary hyperekplexia [RCV002646760] Chr5:151856358 [GRCh38]
Chr5:151235919 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.690C>T (p.Tyr230=) single nucleotide variant Hereditary hyperekplexia [RCV002600674] Chr5:151855047 [GRCh38]
Chr5:151234608 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1226T>A (p.Ile409Asn) single nucleotide variant Hereditary hyperekplexia [RCV002629351]|Hyperekplexia 1 [RCV003224642] Chr5:151822797 [GRCh38]
Chr5:151202358 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1240A>C (p.Lys414Gln) single nucleotide variant Hereditary hyperekplexia [RCV002629131] Chr5:151822783 [GRCh38]
Chr5:151202344 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.843G>A (p.Val281=) single nucleotide variant Hereditary hyperekplexia [RCV003086398] Chr5:151851459 [GRCh38]
Chr5:151231020 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1059+7C>A single nucleotide variant Hereditary hyperekplexia [RCV002648097] Chr5:151828914 [GRCh38]
Chr5:151208475 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.461T>A (p.Val154Asp) single nucleotide variant Hereditary hyperekplexia [RCV002833234] Chr5:151859800 [GRCh38]
Chr5:151239361 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.699T>A (p.Gly233=) single nucleotide variant Hereditary hyperekplexia [RCV002629805] Chr5:151851603 [GRCh38]
Chr5:151231164 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.184+1G>A single nucleotide variant Hereditary hyperekplexia [RCV003061107] Chr5:151892310 [GRCh38]
Chr5:151271871 [GRCh37]
Chr5:5q33.1		 likely pathogenic
NM_000171.4(GLRA1):c.564A>G (p.Gly188=) single nucleotide variant Hereditary hyperekplexia [RCV003047088] Chr5:151855173 [GRCh38]
Chr5:151234734 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.274C>T (p.Leu92=) single nucleotide variant Hereditary hyperekplexia [RCV003065668] Chr5:151859987 [GRCh38]
Chr5:151239548 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.14A>G (p.Asn5Ser) single nucleotide variant Hyperekplexia 1 [RCV003131033] Chr5:151924536 [GRCh38]
Chr5:151304097 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1337T>C (p.Val446Ala) single nucleotide variant Hereditary hyperekplexia [RCV002725714] Chr5:151822686 [GRCh38]
Chr5:151202247 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.913-8dup duplication Hereditary hyperekplexia [RCV002589608] Chr5:151829074..151829075 [GRCh38]
Chr5:151208635..151208636 [GRCh37]
Chr5:5q33.1		 benign
NM_000171.4(GLRA1):c.298C>T (p.Arg100Cys) single nucleotide variant Hereditary hyperekplexia [RCV002633609] Chr5:151859963 [GRCh38]
Chr5:151239524 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.537dup (p.Cys180fs) duplication Hereditary hyperekplexia [RCV003070076] Chr5:151856322..151856323 [GRCh38]
Chr5:151235883..151235884 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.291C>T (p.Asn97=) single nucleotide variant Hereditary hyperekplexia [RCV003073046] Chr5:151859970 [GRCh38]
Chr5:151239531 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.252+17A>G single nucleotide variant Hereditary hyperekplexia [RCV003073108] Chr5:151886704 [GRCh38]
Chr5:151266265 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.913-1G>A single nucleotide variant Hereditary hyperekplexia [RCV003596240]|not provided [RCV003225527] Chr5:151829068 [GRCh38]
Chr5:151208629 [GRCh37]
Chr5:5q33.1		 likely pathogenic
NM_000171.4(GLRA1):c.147del (p.Ser50fs) deletion Hyperekplexia 1 [RCV003145868] Chr5:151892348 [GRCh38]
Chr5:151271909 [GRCh37]
Chr5:5q33.1		 likely pathogenic
NM_000171.4(GLRA1):c.921dup (p.Val308fs) duplication Hyperekplexia 1 [RCV003226089] Chr5:151829058..151829059 [GRCh38]
Chr5:151208619..151208620 [GRCh37]
Chr5:5q33.1		 likely pathogenic
NM_000171.4(GLRA1):c.578A>T (p.Asp193Val) single nucleotide variant Hereditary hyperekplexia [RCV003596242]|not provided [RCV003319881] Chr5:151855159 [GRCh38]
Chr5:151234720 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1193C>G (p.Ser398Cys) single nucleotide variant Inborn genetic diseases [RCV003370739] Chr5:151822830 [GRCh38]
Chr5:151202391 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.415del (p.Ile139fs) deletion Hereditary hyperekplexia [RCV003873165] Chr5:151859846 [GRCh38]
Chr5:151239407 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.477-13C>T single nucleotide variant Hereditary hyperekplexia [RCV003761676]|not specified [RCV003405133] Chr5:151856396 [GRCh38]
Chr5:151235957 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.536C>A (p.Thr179Lys) single nucleotide variant GLRA1-related disorder [RCV003406209]|Hereditary hyperekplexia [RCV003761674] Chr5:151856324 [GRCh38]
Chr5:151235885 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.185-3C>T single nucleotide variant Hyperekplexia 1 [RCV003486091] Chr5:151886791 [GRCh38]
Chr5:151266352 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.807C>T (p.Ser269=) single nucleotide variant Hereditary hyperekplexia [RCV003880064] Chr5:151851495 [GRCh38]
Chr5:151231056 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.720C>T (p.Ala240=) single nucleotide variant Hereditary hyperekplexia [RCV003882686] Chr5:151851582 [GRCh38]
Chr5:151231143 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.943A>T (p.Met315Leu) single nucleotide variant Hereditary hyperekplexia [RCV003762417] Chr5:151829037 [GRCh38]
Chr5:151208598 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.204C>T (p.Ser68=) single nucleotide variant Hereditary hyperekplexia [RCV003762401] Chr5:151886769 [GRCh38]
Chr5:151266330 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.725del (p.Phe242fs) deletion Hereditary hyperekplexia [RCV003597031] Chr5:151851577 [GRCh38]
Chr5:151231138 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.624T>C (p.Asp208=) single nucleotide variant Hereditary hyperekplexia [RCV003762507] Chr5:151855113 [GRCh38]
Chr5:151234674 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.278G>A (p.Arg93Gln) single nucleotide variant Hereditary hyperekplexia [RCV003764375] Chr5:151859983 [GRCh38]
Chr5:151239544 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1262T>C (p.Ile421Thr) single nucleotide variant Hereditary hyperekplexia [RCV003764431] Chr5:151822761 [GRCh38]
Chr5:151202322 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.311A>G (p.Asn104Ser) single nucleotide variant Hereditary hyperekplexia [RCV003597105] Chr5:151859950 [GRCh38]
Chr5:151239511 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1154C>T (p.Ala385Val) single nucleotide variant Hereditary hyperekplexia [RCV003597120] Chr5:151822869 [GRCh38]
Chr5:151202430 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.360C>A (p.Ser120=) single nucleotide variant Hereditary hyperekplexia [RCV003762569] Chr5:151859901 [GRCh38]
Chr5:151239462 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.129T>G (p.Asp43Glu) single nucleotide variant Hereditary hyperekplexia [RCV003762674] Chr5:151892366 [GRCh38]
Chr5:151271927 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.57-16CT[2] microsatellite Hereditary hyperekplexia [RCV003762692] Chr5:151892449..151892450 [GRCh38]
Chr5:151272010..151272011 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.405C>A (p.His135Gln) single nucleotide variant Hereditary hyperekplexia [RCV003762700] Chr5:151859856 [GRCh38]
Chr5:151239417 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.697+2T>A single nucleotide variant Hereditary hyperekplexia [RCV003763485] Chr5:151855038 [GRCh38]
Chr5:151234599 [GRCh37]
Chr5:5q33.1		 likely pathogenic
NM_000171.4(GLRA1):c.560-9C>T single nucleotide variant Hereditary hyperekplexia [RCV003596384] Chr5:151855186 [GRCh38]
Chr5:151234747 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.184+4G>A single nucleotide variant GLRA1-related disorder [RCV003954257]|Hereditary hyperekplexia [RCV003596460] Chr5:151892307 [GRCh38]
Chr5:151271868 [GRCh37]
Chr5:5q33.1		 likely benign|uncertain significance
NM_000171.4(GLRA1):c.1316A>G (p.Lys439Arg) single nucleotide variant Hereditary hyperekplexia [RCV003596361] Chr5:151822707 [GRCh38]
Chr5:151202268 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1273A>G (p.Met425Val) single nucleotide variant Hereditary hyperekplexia [RCV003596743] Chr5:151822750 [GRCh38]
Chr5:151202311 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.559+19T>C single nucleotide variant Hereditary hyperekplexia [RCV003763677] Chr5:151856282 [GRCh38]
Chr5:151235843 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1016A>G (p.His339Arg) single nucleotide variant Hereditary hyperekplexia [RCV003596716] Chr5:151828964 [GRCh38]
Chr5:151208525 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.185-7T>C single nucleotide variant Hereditary hyperekplexia [RCV003596804] Chr5:151886795 [GRCh38]
Chr5:151266356 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.719C>T (p.Ala240Val) single nucleotide variant Hereditary hyperekplexia [RCV003596806]|not specified [RCV004690430] Chr5:151851583 [GRCh38]
Chr5:151231144 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.99dup (p.Lys34fs) duplication Hereditary hyperekplexia [RCV003761712] Chr5:151892395..151892396 [GRCh38]
Chr5:151271956..151271957 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.697+17C>T single nucleotide variant Hereditary hyperekplexia [RCV003596848] Chr5:151855023 [GRCh38]
Chr5:151234584 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.253-9T>C single nucleotide variant Hereditary hyperekplexia [RCV003762259] Chr5:151860017 [GRCh38]
Chr5:151239578 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.184+11T>G single nucleotide variant Hereditary hyperekplexia [RCV003596883] Chr5:151892300 [GRCh38]
Chr5:151271861 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.103C>G (p.Pro35Ala) single nucleotide variant Hereditary hyperekplexia [RCV003762513] Chr5:151892392 [GRCh38]
Chr5:151271953 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.335A>C (p.Asp112Ala) single nucleotide variant Hereditary hyperekplexia [RCV003762589] Chr5:151859926 [GRCh38]
Chr5:151239487 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1060-20C>T single nucleotide variant Hereditary hyperekplexia [RCV003596452] Chr5:151822983 [GRCh38]
Chr5:151202544 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.490C>T (p.Leu164=) single nucleotide variant Hereditary hyperekplexia [RCV003596753] Chr5:151856370 [GRCh38]
Chr5:151235931 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.772C>T (p.Pro258Ser) single nucleotide variant Hereditary hyperekplexia [RCV003596852] Chr5:151851530 [GRCh38]
Chr5:151231091 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1124A>T (p.Gln375Leu) single nucleotide variant Hereditary hyperekplexia [RCV003764255] Chr5:151822899 [GRCh38]
Chr5:151202460 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.680_681delinsAA (p.Thr227Lys) indel Hereditary hyperekplexia [RCV003763309] Chr5:151855056..151855057 [GRCh38]
Chr5:151234617..151234618 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.827C>A (p.Ala276Asp) single nucleotide variant Hereditary hyperekplexia [RCV003763418] Chr5:151851475 [GRCh38]
Chr5:151231036 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.913-19T>G single nucleotide variant Hereditary hyperekplexia [RCV003762316] Chr5:151829086 [GRCh38]
Chr5:151208647 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.560-16T>C single nucleotide variant Hereditary hyperekplexia [RCV003762383] Chr5:151855193 [GRCh38]
Chr5:151234754 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.589G>A (p.Glu197Lys) single nucleotide variant Hereditary hyperekplexia [RCV003596263] Chr5:151855148 [GRCh38]
Chr5:151234709 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.99C>A (p.Pro33=) single nucleotide variant Hereditary hyperekplexia [RCV003762416] Chr5:151892396 [GRCh38]
Chr5:151271957 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.559+6T>A single nucleotide variant Hereditary hyperekplexia [RCV003763503] Chr5:151856295 [GRCh38]
Chr5:151235856 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.879C>G (p.Thr293=) single nucleotide variant Hereditary hyperekplexia [RCV003762465] Chr5:151851423 [GRCh38]
Chr5:151230984 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.365G>A (p.Trp122Ter) single nucleotide variant Hereditary hyperekplexia [RCV003763277] Chr5:151859896 [GRCh38]
Chr5:151239457 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.184+6G>C single nucleotide variant Hereditary hyperekplexia [RCV003763388] Chr5:151892305 [GRCh38]
Chr5:151271866 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.801G>T (p.Trp267Cys) single nucleotide variant Hereditary hyperekplexia [RCV003596371] Chr5:151851501 [GRCh38]
Chr5:151231062 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1207G>C (p.Glu403Gln) single nucleotide variant Hereditary hyperekplexia [RCV003596298] Chr5:151822816 [GRCh38]
Chr5:151202377 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.2T>G (p.Met1Arg) single nucleotide variant Hereditary hyperekplexia [RCV003596325] Chr5:151924548 [GRCh38]
Chr5:151304109 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.476+6T>A single nucleotide variant Hereditary hyperekplexia [RCV003596424] Chr5:151859779 [GRCh38]
Chr5:151239340 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.253-8G>C single nucleotide variant Hereditary hyperekplexia [RCV003597017] Chr5:151860016 [GRCh38]
Chr5:151239577 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.912+12T>C single nucleotide variant Hereditary hyperekplexia [RCV003762454] Chr5:151851378 [GRCh38]
Chr5:151230939 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.41C>T (p.Thr14Ile) single nucleotide variant Hereditary hyperekplexia [RCV003762603] Chr5:151924509 [GRCh38]
Chr5:151304070 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.951T>G (p.Val317=) single nucleotide variant Hereditary hyperekplexia [RCV003764354] Chr5:151829029 [GRCh38]
Chr5:151208590 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.559+18G>C single nucleotide variant Hereditary hyperekplexia [RCV003762452] Chr5:151856283 [GRCh38]
Chr5:151235844 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.528T>A (p.Asp176Glu) single nucleotide variant Hereditary hyperekplexia [RCV003596335] Chr5:151856332 [GRCh38]
Chr5:151235893 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.35G>C (p.Trp12Ser) single nucleotide variant Hereditary hyperekplexia [RCV003762567] Chr5:151924515 [GRCh38]
Chr5:151304076 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.1054C>G (p.His352Asp) single nucleotide variant Hereditary hyperekplexia [RCV003762611] Chr5:151828926 [GRCh38]
Chr5:151208487 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.476+20A>G single nucleotide variant Hereditary hyperekplexia [RCV003596715] Chr5:151859765 [GRCh38]
Chr5:151239326 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1229A>C (p.Gln410Pro) single nucleotide variant Hereditary hyperekplexia [RCV003764320] Chr5:151822794 [GRCh38]
Chr5:151202355 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.162C>T (p.Ala54=) single nucleotide variant Hereditary hyperekplexia [RCV003596958] Chr5:151892333 [GRCh38]
Chr5:151271894 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1059+1G>A single nucleotide variant Hereditary hyperekplexia [RCV003762365] Chr5:151828920 [GRCh38]
Chr5:151208481 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.981A>T (p.Leu327Phe) single nucleotide variant Hereditary hyperekplexia [RCV003763460] Chr5:151828999 [GRCh38]
Chr5:151208560 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.435G>A (p.Leu145=) single nucleotide variant Hereditary hyperekplexia [RCV003823494] Chr5:151859826 [GRCh38]
Chr5:151239387 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.991_1000del (p.Ala331fs) deletion Hereditary hyperekplexia [RCV003871990] Chr5:151828980..151828989 [GRCh38]
Chr5:151208541..151208550 [GRCh37]
Chr5:5q33.1		 pathogenic
NM_000171.4(GLRA1):c.1341C>A (p.His447Gln) single nucleotide variant Hereditary hyperekplexia [RCV003865388] Chr5:151822682 [GRCh38]
Chr5:151202243 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.621A>C (p.Ala207=) single nucleotide variant Hereditary hyperekplexia [RCV003859038] Chr5:151855116 [GRCh38]
Chr5:151234677 [GRCh37]
Chr5:5q33.1		 likely benign
NM_000171.4(GLRA1):c.1340A>G (p.His447Arg) single nucleotide variant Inborn genetic diseases [RCV004393220] Chr5:151822683 [GRCh38]
Chr5:151202244 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.503T>G (p.Met168Arg) single nucleotide variant Hyperekplexia 1 [RCV004598411] Chr5:151856357 [GRCh38]
Chr5:151235918 [GRCh37]
Chr5:5q33.1		 likely pathogenic
NC_000005.9:g.(?_151208462)_(151208648_?)del deletion Hereditary hyperekplexia [RCV004578968] Chr5:151208462..151208648 [GRCh37]
Chr5:5q33.1		 uncertain significance
NC_000005.9:g.(?_151235842)_(151272019_?)del deletion Hereditary hyperekplexia [RCV004578969] Chr5:151235842..151272019 [GRCh37]
Chr5:5q33.1		 pathogenic
NC_000005.9:g.(?_150632778)_(151304110_?)dup duplication Hereditary hyperekplexia [RCV004578970] Chr5:150632778..151304110 [GRCh37]
Chr5:5q33.1		 uncertain significance
NC_000005.9:g.(?_151266262)_(151304110_?)dup duplication Hereditary hyperekplexia [RCV004578971] Chr5:151266262..151304110 [GRCh37]
Chr5:5q33.1		 uncertain significance
NM_000171.4(GLRA1):c.298C>A (p.Arg100Ser) single nucleotide variant Hyperekplexia 1 [RCV004595731] Chr5:151859963 [GRCh38]
Chr5:151239524 [GRCh37]
Chr5:5q33.1		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1663
Count of miRNA genes:661
Interacting mature miRNAs:757
Transcripts:ENST00000274576, ENST00000455880, ENST00000462581, ENST00000471351, ENST00000545569
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406981238GWAS630214_Hadolescent idiopathic scoliosis QTL GWAS630214 (human)5e-14adolescent idiopathic scoliosis5151890769151890770Human
407115521GWAS764497_Hbody mass index QTL GWAS764497 (human)1e-09body mass indexbody mass index (BMI) (CMO:0000105)5151887512151887513Human
407313423GWAS962399_Hbody weight QTL GWAS962399 (human)5e-08body mass (VT:0001259)body weight (CMO:0000012)5151843248151843249Human
407164524GWAS813500_Hbody mass index QTL GWAS813500 (human)3e-09body mass indexbody mass index (BMI) (CMO:0000105)5151887512151887513Human
407326957GWAS975933_Hcortical surface area measurement QTL GWAS975933 (human)9e-13cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)5151827912151827913Human
407241069GWAS890045_Hbrain measurement QTL GWAS890045 (human)1e-10brain measurementbrain measurement (CMO:0000911)5151828443151828444Human

Markers in Region
bac5555T  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375151,250,779 - 151,250,920UniSTSGRCh37
Build 365151,230,972 - 151,231,113RGDNCBI36
Celera5147,332,199 - 147,332,340RGD
Cytogenetic Map5q32UniSTS
HuRef5146,395,706 - 146,395,847UniSTS
RH71281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375151,202,227 - 151,202,359UniSTSGRCh37
Build 365151,182,420 - 151,182,552RGDNCBI36
Celera5147,283,620 - 147,283,752RGD
Cytogenetic Map5q32UniSTS
HuRef5146,347,636 - 146,347,768UniSTS
GeneMap99-GB4 RH Map5583.96UniSTS
NCBI RH Map5891.6UniSTS
D5S2588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375151,271,602 - 151,271,766UniSTSGRCh37
Build 365151,251,795 - 151,251,959RGDNCBI36
Celera5147,353,045 - 147,353,209RGD
Cytogenetic Map5q32UniSTS
HuRef5146,416,550 - 146,416,714UniSTS
Stanford-G3 RH Map55566.0UniSTS
GLRA1_2895  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375151,201,999 - 151,202,573UniSTSGRCh37
Build 365151,182,192 - 151,182,766RGDNCBI36
Celera5147,283,392 - 147,283,966RGD
HuRef5146,347,408 - 146,347,982UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001292000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY327864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY426988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA749850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U77732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X52009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000274576   ⟹   ENSP00000274576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5151,822,513 - 151,924,851 (-)Ensembl
Ensembl Acc Id: ENST00000455880   ⟹   ENSP00000411593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5151,822,627 - 151,924,836 (-)Ensembl
Ensembl Acc Id: ENST00000462581   ⟹   ENSP00000430595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5151,822,627 - 151,924,836 (-)Ensembl
Ensembl Acc Id: ENST00000471351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5151,849,691 - 151,924,832 (-)Ensembl
RefSeq Acc Id: NM_000171   ⟹   NP_000162
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,822,513 - 151,924,851 (-)NCBI
GRCh375151,202,074 - 151,304,397 (-)ENTREZGENE
Build 365151,182,361 - 151,284,596 (-)NCBI Archive
HuRef5146,347,483 - 146,449,349 (-)ENTREZGENE
CHM1_15150,634,496 - 150,736,836 (-)NCBI
T2T-CHM13v2.05152,361,497 - 152,463,867 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001146040   ⟹   NP_001139512
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,822,513 - 151,924,851 (-)NCBI
GRCh375151,202,074 - 151,304,397 (-)ENTREZGENE
HuRef5146,347,483 - 146,449,349 (-)ENTREZGENE
CHM1_15150,634,496 - 150,736,836 (-)NCBI
T2T-CHM13v2.05152,361,497 - 152,463,867 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001292000   ⟹   NP_001278929
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,822,513 - 151,924,851 (-)NCBI
CHM1_15150,634,496 - 150,736,836 (-)NCBI
T2T-CHM13v2.05152,361,497 - 152,463,867 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047417105   ⟹   XP_047273061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,822,626 - 151,910,268 (-)NCBI
RefSeq Acc Id: XM_054352392   ⟹   XP_054208367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05152,361,610 - 152,449,281 (-)NCBI
RefSeq Acc Id: NP_000162   ⟸   NM_000171
- Peptide Label: isoform 2 precursor
- UniProtKB: P23415 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139512   ⟸   NM_001146040
- Peptide Label: isoform 1 precursor
- UniProtKB: Q14C77 (UniProtKB/Swiss-Prot),   B2R6T3 (UniProtKB/Swiss-Prot),   Q6DJV9 (UniProtKB/Swiss-Prot),   P23415 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001278929   ⟸   NM_001292000
- Peptide Label: isoform 3
- UniProtKB: Q14C71 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000411593   ⟸   ENST00000455880
Ensembl Acc Id: ENSP00000274576   ⟸   ENST00000274576
Ensembl Acc Id: ENSP00000430595   ⟸   ENST00000462581
RefSeq Acc Id: XP_047273061   ⟸   XM_047417105
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054208367   ⟸   XM_054352392
- Peptide Label: isoform X1
Protein Domains
Neurotransmitter-gated ion-channel ligand-binding   Neurotransmitter-gated ion-channel transmembrane

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P23415-F1-model_v2 AlphaFold P23415 1-457 view protein structure

Promoters
RGD ID:6871338
Promoter ID:EPDNEW_H8834
Type:initiation region
Name:GLRA1_2
Description:glycine receptor alpha 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8835  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,924,808 - 151,924,868EPDNEW
RGD ID:6871340
Promoter ID:EPDNEW_H8835
Type:multiple initiation site
Name:GLRA1_1
Description:glycine receptor alpha 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8834  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385151,924,909 - 151,924,969EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4326 AgrOrtholog
COSMIC GLRA1 COSMIC
Ensembl Genes ENSG00000145888 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000274576 ENTREZGENE
  ENST00000274576.9 UniProtKB/Swiss-Prot
  ENST00000455880 ENTREZGENE
  ENST00000455880.2 UniProtKB/Swiss-Prot
  ENST00000462581.6 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.390 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.70.170.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000145888 GTEx
HGNC ID HGNC:4326 ENTREZGENE
Human Proteome Map GLRA1 Human Proteome Map
InterPro GABAA/Glycine_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycine_rcpt_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycine_rcpt_A1 UniProtKB/Swiss-Prot
  Neur_chan_lig-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_lig-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuro-gated_channel_TM_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuro_actylchol_rec UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurotrans-gated_channel_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurotransmitter_ion_chnl_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2741 UniProtKB/Swiss-Prot
NCBI Gene 2741 ENTREZGENE
OMIM 138491 OMIM
PANTHER GLYCINE RECEPTOR SUBUNIT ALPHA-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR18945 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Neur_chan_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_memb UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28727 PharmGKB
PRINTS GABAARECEPTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLYRALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLYRALPHA1 UniProtKB/Swiss-Prot
  NRIONCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NEUROTR_ION_CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF63712 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R6T3 ENTREZGENE
  E5RJ70_HUMAN UniProtKB/TrEMBL
  GLRA1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q14C71 ENTREZGENE, UniProtKB/TrEMBL
  Q14C77 ENTREZGENE
  Q6DJV9 ENTREZGENE
UniProt Secondary B2R6T3 UniProtKB/Swiss-Prot
  Q14C77 UniProtKB/Swiss-Prot
  Q6DJV9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 GLRA1  glycine receptor alpha 1  GLRA1  glycine receptor, alpha 1  Symbol and/or name change 5135510 APPROVED