Total 70 pathogenic variants reported for Hereditary hyperekplexia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000171.4(GLRA1):c.896G>T (p.Arg299Leu) SNV
Germline		 Chr5:151851406 Pathogenic/Likely pathogenic Hyperekplexia 1
Hereditary hyperekplexia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341357 rs_121918408

4 SubmittersRCV000017438RCV002228030RCV004589516
NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln) SNV
Germline		 Chr5:151851406 Pathogenic Hyperekplexia 1
Hereditary hyperekplexia
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341359 rs_121918408

12 SubmittersRCV000017439RCV001376594RCV001818164RCV004984645
NM_000171.4(GLRA1):c.920A>G (p.Tyr307Cys) SNV
Germline		 Chr5:151829060 Pathogenic Hyperekplexia 1
Hereditary hyperekplexia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341363 rs_121918410

6 SubmittersRCV000017441RCV001376583RCV005620337
NM_000171.4(GLRA1):c.523A>G (p.Met175Val) SNV
Germline		 Chr5:151856337 Conflicting classifications of pathogenicity Hyperekplexia 1
Hereditary hyperekplexia		 Criteria Provided
Conflicting Classifications
 CA257409 rs_121918414

3 SubmittersRCV000017446RCV001328517
NM_000171.4(GLRA1):c.690C>A (p.Tyr230Ter) SNV
Germline		 Chr5:151855047 Pathogenic Hyperekplexia 1
Hereditary hyperekplexia		 Criteria Provided
Single Submitter
 CA341371 rs_121918415

3 SubmittersRCV000017447RCV005089265
NM_000171.4(GLRA1):c.971C>A (p.Ser324Ter) SNV
Germline		 Chr5:151829009 Pathogenic Hyperekplexia 1
Condition: not provided
Hereditary hyperekplexia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257412 rs_121918418

3 SubmittersRCV000017451RCV000760469RCV001376595
NM_000171.4(GLRA1):c.299G>A (p.Arg100His) SNV
Germline		 Chr5:151859962 Likely pathogenic Hyperekplexia 1
Hereditary hyperekplexia
GLRA1-related disorder		 Criteria Provided
Single Submitter
 CA342950 rs_281864914

3 SubmittersRCV000031886RCV001376551RCV004730861
NM_000171.4(GLRA1):c.737G>A (p.Arg246Gln) SNV
Germline		 Chr5:151851565 Pathogenic Hyperekplexia 1
Hereditary hyperekplexia		 Criteria Provided
Single Submitter
 CA342953 rs_281864916

2 SubmittersRCV000031887RCV001852633
NM_000171.4(GLRA1):c.1030C>T (p.Arg344Ter) SNV
Germline		 Chr5:151828950 Conflicting classifications of pathogenicity Hereditary hyperekplexia
Condition: not provided
Hyperekplexia 1		 Criteria Provided
Conflicting Classifications
 CA356531 rs_281864913

3 SubmittersRCV000538375RCV001762554RCV005252834
NM_000171.4(GLRA1):c.1259G>A (p.Arg420His) SNV
Germline		 Chr5:151822764 Pathogenic/Likely pathogenic Condition: not provided
Hereditary hyperekplexia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA356537 rs_281864919

4 SubmittersRCV000358468RCV000544789
NM_000171.4(GLRA1):c.839G>A (p.Arg280His) SNV
Germline		 Chr5:151851463 Pathogenic/Likely pathogenic Hereditary hyperekplexia
Condition: not provided
Hyperekplexia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA356539 rs_281864918

4 SubmittersRCV001056831RCV005647988RCV005860046
NM_000171.4(GLRA1):c.277C>T (p.Arg93Trp) SNV
Germline		 Chr5:151859984 Pathogenic/Likely pathogenic Hyperekplexia 1
Hereditary hyperekplexia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3523722 rs_199547699

2 SubmittersRCV000490459RCV001853386
NM_000171.4(GLRA1):c.697+9A>C SNV
Germline		 Chr5:151855031 Conflicting classifications of pathogenicity Hyperekplexia 1
Hereditary hyperekplexia		 Criteria Provided
Conflicting Classifications
 CA10621015 rs_886060280

2 SubmittersRCV000336033RCV002061270
NM_000171.4(GLRA1):c.449G>A (p.Arg150Gln) SNV
Germline		 Chr5:151859812 Conflicting classifications of pathogenicity Hyperekplexia 1
Hereditary hyperekplexia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3523702 rs_561848502

3 SubmittersRCV000824427RCV002229894RCV004021992
NM_000171.4(GLRA1):c.94G>A (p.Ala32Thr) SNV
Germline		 Chr5:151892401 Conflicting classifications of pathogenicity Hyperekplexia 1
Hereditary hyperekplexia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3523775 rs_779993828

4 SubmittersRCV000308500RCV001473321RCV005572306
NM_000171.4(GLRA1):c.869C>T (p.Thr290Ile) SNV
Germline		 Chr5:151851433 Conflicting classifications of pathogenicity Condition: not provided
Hereditary hyperekplexia		 Criteria Provided
Conflicting Classifications
 CA16618146 rs_1064795411

2 SubmittersRCV000482253RCV005090956
NM_000171.4(GLRA1):c.284A>C (p.Gln95Pro) SNV
Germline		 Chr5:151859977 Conflicting classifications of pathogenicity Condition: not provided
Hereditary hyperekplexia		 Criteria Provided
Conflicting Classifications
 CA361842185 rs_1131691474

2 SubmittersRCV000494602RCV005056072
NM_000171.4(GLRA1):c.139G>A (p.Gly47Arg) SNV
Germline		 Chr5:151892356 Conflicting classifications of pathogenicity Condition: not provided
Hereditary hyperekplexia		 Criteria Provided
Conflicting Classifications
 CA3523767 rs_759998394

2 SubmittersRCV000493956RCV001865543
NM_000171.4(GLRA1):c.391G>A (p.Glu131Lys) SNV
Germline		 Chr5:151859870 Conflicting classifications of pathogenicity Hereditary hyperekplexia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3523706 rs_779234204

2 SubmittersRCV000537276RCV002530053
NM_000171.4(GLRA1):c.292G>A (p.Asp98Asn) SNV
Germline		 Chr5:151859969 Pathogenic Hereditary hyperekplexia Criteria Provided
Single Submitter
 CA3523719 rs_760390019

1 SubmittersRCV002231384
NM_000171.4(GLRA1):c.50T>C (p.Phe17Ser) SNV
Germline		 Chr5:151924500 Conflicting classifications of pathogenicity Hyperekplexia 1
Hereditary hyperekplexia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3523804 rs_376426309

4 SubmittersRCV000525987RCV002231755RCV004023976
NM_000171.4(GLRA1):c.1174A>G (p.Asn392Asp) SNV
Germline		 Chr5:151822849 Conflicting classifications of pathogenicity Hereditary hyperekplexia
not specified		 Criteria Provided
Conflicting Classifications
 CA3523493 rs_775599403

2 SubmittersRCV000639749RCV004782485
NM_000171.4(GLRA1):c.859A>G (p.Thr287Ala) SNV
Germline		 Chr5:151851443 Likely pathogenic Hereditary hyperekplexia Criteria Provided
Single Submitter
 CA361837483 rs_1554083576

1 SubmittersRCV002232625
NM_000171.4(GLRA1):c.1296G>T (p.Met432Ile) SNV
Germline		 Chr5:151822727 Conflicting classifications of pathogenicity Hyperekplexia 1
Hereditary hyperekplexia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3523464 rs_141039714

3 SubmittersRCV000701237RCV001391318RCV002534390
NM_000171.4(GLRA1):c.1166A>C (p.Asn389Thr) SNV
Germline		 Chr5:151822857 Conflicting classifications of pathogenicity Hereditary hyperekplexia
Condition: not provided
GLRA1-related disorder
Hyperekplexia 1		 Criteria Provided
Conflicting Classifications
 CA3523494 rs_138173310

5 SubmittersRCV000700290RCV003320731RCV004751669RCV005400462
NM_000171.4(GLRA1):c.1161C>G (p.Asn387Lys) SNV
Germline		 Chr5:151822862 Conflicting classifications of pathogenicity Hereditary hyperekplexia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3523495 rs_768970494

2 SubmittersRCV000695479RCV002532303
NM_000171.4(GLRA1):c.199G>A (p.Val67Met) SNV
Germline		 Chr5:151886774 Conflicting classifications of pathogenicity Hereditary hyperekplexia
Condition: not provided
GLRA1-related disorder
Hyperekplexia 1		 Criteria Provided
Conflicting Classifications
 CA3523743 rs_142888296

4 SubmittersRCV000698052RCV003319410RCV003945720RCV006450323
NM_000171.4(GLRA1):c.915G>A (p.Val305=) SNV
Germline		 Chr5:151829065 Conflicting classifications of pathogenicity Hereditary hyperekplexia
not specified		 Criteria Provided
Conflicting Classifications
 CA3523569 rs_150716717

2 SubmittersRCV000878178RCV005408042
NM_000171.4(GLRA1):c.696A>G (p.Thr232=) SNV
Germline		 Chr5:151855041 Conflicting classifications of pathogenicity Hyperekplexia 1
Hereditary hyperekplexia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3523626 rs_374982085

3 SubmittersRCV001059298RCV001328512RCV003442183
NM_000171.4(GLRA1):c.477-5C>T SNV
Germline		 Chr5:151856388 Conflicting classifications of pathogenicity Hyperekplexia 1
Hereditary hyperekplexia
GLRA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA129989462 rs_560187719

3 SubmittersRCV001156131RCV001407036RCV003953541
NM_000171.4(GLRA1):c.569C>T (p.Thr190Met) SNV
Germline		 Chr5:151855168 Pathogenic/Likely pathogenic Hereditary hyperekplexia
Condition: not provided
Hyperekplexia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3523647 rs_781570584

4 SubmittersRCV001219177RCV001268800RCV002497748
NM_000171.4(GLRA1):c.1031G>A (p.Arg344Gln) SNV
Germline		 Chr5:151828949 Conflicting classifications of pathogenicity Hereditary hyperekplexia
not specified		 Criteria Provided
Conflicting Classifications
 CA3523553 rs_199618583

2 SubmittersRCV002241001RCV006453584
NM_000171.4(GLRA1):c.697+1G>A SNV
Germline		 Chr5:151855039 Likely pathogenic Hereditary hyperekplexia Criteria Provided
Single Submitter
 CA361839482 rs_1753002738

1 SubmittersRCV001209217
NM_000171.4(GLRA1):c.22C>T (p.Arg8Ter) SNV
Germline		 Chr5:151924528 Conflicting classifications of pathogenicity Hereditary hyperekplexia
Hyperekplexia 1
GLRA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA361900000 rs_1296531416

3 SubmittersRCV001229339RCV002497780RCV003414028
NM_000171.4(GLRA1):c.89G>A (p.Arg30His) SNV
Germline		 Chr5:151892406 Conflicting classifications of pathogenicity Hereditary hyperekplexia
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3523777 rs_199910297

3 SubmittersRCV001313060RCV003323852RCV004770034
NM_000171.4(GLRA1):c.736C>T (p.Arg246Trp) SNV
Germline		 Chr5:151851566 Pathogenic/Likely pathogenic Hyperekplexia 1
Hereditary hyperekplexia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3523602 rs_751659671

3 SubmittersRCV001782203RCV002034594RCV005437353
NM_000171.4(GLRA1):c.1101T>A (p.Tyr367Ter) SNV
Germline		 Chr5:151822922 Pathogenic Hereditary hyperekplexia Criteria Provided
Single Submitter
 CA361850300 rs_758811460

1 SubmittersRCV001987384
NM_000171.4(GLRA1):c.895C>T (p.Arg299Ter) SNV
Germline		 Chr5:151851407 Pathogenic Hereditary hyperekplexia Criteria Provided
Single Submitter
 CA3523592 rs_757488419

1 SubmittersRCV001949676
NM_000171.4(GLRA1):c.1339C>A (p.His447Asn) SNV
Germline		 Chr5:151822684 Conflicting classifications of pathogenicity Hereditary hyperekplexia
Seizure
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3523452 rs_146481873

3 SubmittersRCV001883728RCV004556089RCV004980853
NM_000171.4(GLRA1):c.1213C>T (p.Arg405Ter) SNV
Germline		 Chr5:151822810 Conflicting classifications of pathogenicity not specified
Hyperekplexia 1
Hereditary hyperekplexia		 Criteria Provided
Conflicting Classifications
 CA3523481 rs_375152105

3 SubmittersRCV002247864RCV004816983RCV006553147
NM_000171.4(GLRA1):c.278G>T (p.Arg93Leu) SNV
Germline		 Chr5:151859983 Pathogenic Hereditary hyperekplexia Criteria Provided
Single Submitter
 CA361842226 rs_1165958512

1 SubmittersRCV003037132
NM_000171.4(GLRA1):c.184+1G>A SNV
Germline		 Chr5:151892310 Likely pathogenic Hereditary hyperekplexia Criteria Provided
Single Submitter
 CA361847840 rs_2480063069

1 SubmittersRCV003061107
NM_000171.4(GLRA1):c.298C>T (p.Arg100Cys) SNV
Germline		 Chr5:151859963 Pathogenic Hereditary hyperekplexia Criteria Provided
Single Submitter
 CA361842079 rs_1581623910

1 SubmittersRCV002633609
NM_000171.4(GLRA1):c.1258C>T (p.Arg420Cys) SNV
Germline		 Chr5:151822765 Likely pathogenic Hereditary hyperekplexia Criteria Provided
Single Submitter
 CA3523469 rs_182383995

1 SubmittersRCV002572487
NM_000171.4(GLRA1):c.913-1G>A SNV
Germline		 Chr5:151829068 Likely pathogenic Condition: not provided
Hereditary hyperekplexia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA361851990 rs_1763352666

2 SubmittersRCV003225527RCV003596240
NM_000171.4(GLRA1):c.801G>T (p.Trp267Cys) SNV
Germline		 Chr5:151851501 Likely pathogenic Hereditary hyperekplexia Criteria Provided
Single Submitter
 CA361837770 rs_281864917

1 SubmittersRCV003596371
NM_000171.4(GLRA1):c.1059+1G>A SNV
Germline		 Chr5:151828920 Pathogenic Hereditary hyperekplexia Criteria Provided
Single Submitter
 CA361851195 rs_2479902942

1 SubmittersRCV003762365
NM_000171.4(GLRA1):c.365G>A (p.Trp122Ter) SNV
Germline		 Chr5:151859896 Pathogenic Hereditary hyperekplexia Criteria Provided
Single Submitter
 CA361841654 rs_2479991322

1 SubmittersRCV003763277
NM_000171.4(GLRA1):c.697+2T>A SNV
Germline		 Chr5:151855038 Likely pathogenic Hereditary hyperekplexia Criteria Provided
Single Submitter
 CA361839476 rs_1753002664

1 SubmittersRCV003763485
NM_000171.4(GLRA1):c.613C>T (p.Gln205Ter) SNV
Germline		 Chr5:151855124 Pathogenic Hereditary hyperekplexia Criteria Provided
Single Submitter

1 SubmittersRCV005207954
NM_000171.4(GLRA1):c.318C>A (p.Tyr106Ter) SNV
Germline		 Chr5:151859943 Pathogenic Hereditary hyperekplexia Criteria Provided
Single Submitter

1 SubmittersRCV006554375
NM_000171.4(GLRA1):c.56+1G>T SNV
Germline		 Chr5:151924493 Likely pathogenic Hereditary hyperekplexia Criteria Provided
Single Submitter

1 SubmittersRCV006554392
NM_000171.4(GLRA1):c.910A>C (p.Lys304Gln) SNV
Germline		 Chr5:151851392 Pathogenic Hereditary hyperekplexia Criteria Provided
Single Submitter

1 SubmittersRCV006554403