Total 49 pathogenic variants reported for Hyperekplexia 1 
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

11 SubmittersRCV000017439RCV001376594RCV001818164RCV004984645
NM_000171.4(GLRA1):c.815T>A (p.Ile272Asn) SNV
Germline		 Chr5:151851487 Pathogenic Hyperekplexia 1 No Assertion Criteria Provided
 CA341361 rs_121918409

2 SubmittersRCV000017440
NM_000171.4(GLRA1):c.920A>G (p.Tyr307Cys) SNV
Germline		 Chr5:151829060 Pathogenic Hyperekplexia 1
Condition: not provided
Hereditary hyperekplexia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341363 rs_121918410

6 SubmittersRCV000017441RCV005620337RCV001376583
NM_000171.4(GLRA1):c.882G>C (p.Gln294His) SNV
Germline		 Chr5:151851420 Pathogenic Hyperekplexia 1 No Assertion Criteria Provided
 CA341365 rs_121918411

2 SubmittersRCV000017442
NM_000171.4(GLRA1):c.910A>G (p.Lys304Glu) SNV
Germline		 Chr5:151851392 Pathogenic Hyperekplexia 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA341367 rs_121918412

3 SubmittersRCV000017443RCV001268225
NM_000171.4(GLRA1):c.832C>A (p.Pro278Thr) SNV
Germline		 Chr5:151851470 Pathogenic Hyperekplexia 1 No Assertion Criteria Provided
 CA341369 rs_121918413

2 SubmittersRCV000017444
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.862G>A (p.Val288Met) SNV
Germline		 Chr5:151851440 Conflicting classifications of pathogenicity Hyperekplexia 1
GLRA1-related disorder		 No Assertion Criteria Provided
 CA341374 rs_121918416

3 SubmittersRCV000017448RCV003894811
NM_000171.4(GLRA1):c.777C>G (p.Ser259Arg) SNV
Germline		 Chr5:151851525 Pathogenic Hyperekplexia 1 No Assertion Criteria Provided
 CA341377 rs_121918417

2 SubmittersRCV000017449
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.884G>A (p.Ser295Asn) SNV
Germline		 Chr5:151851418 Pathogenic Hyperekplexia 1 No Assertion Criteria Provided
 CA257414 rs_267606848

1 SubmittersRCV000017452
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.801G>C (p.Trp267Cys) SNV
Unknown		 Chr5:151851501 Pathogenic Hyperekplexia 1 No Assertion Criteria Provided
 CA342956 rs_281864917

1 SubmittersRCV000031888
NM_000171.4(GLRA1):c.892T>A (p.Ser298Thr) SNV
Unknown		 Chr5:151851410 Pathogenic Hyperekplexia 1 No Assertion Criteria Provided
 CA342959 rs_281864920

1 SubmittersRCV000031891
NM_000171.4(GLRA1):c.920A>C (p.Tyr307Ser) SNV
Unknown		 Chr5:151829060 Pathogenic Hyperekplexia 1 No Assertion Criteria Provided
 CA342962 rs_121918410

1 SubmittersRCV000031892
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.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 Hereditary hyperekplexia
Hyperekplexia 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3523775 rs_779993828

4 SubmittersRCV001473321RCV000308500RCV005572306
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.477-1G>A SNV
Germline		 Chr5:151856384 Pathogenic Hyperekplexia 1 Criteria Provided
Single Submitter
 CA361840920 rs_762864856

1 SubmittersRCV000576251
NM_000171.4(GLRA1):c.252+2T>C SNV
Unknown		 Chr5:151886719 Pathogenic Hyperekplexia 1 Criteria Provided
Single Submitter
 CA361846335 rs_1554085893

1 SubmittersRCV000625824
NM_000171.4(GLRA1):c.1246G>A (p.Asp416Asn) SNV
Germline		 Chr5:151822777 Likely pathogenic Hyperekplexia 1 Criteria Provided
Single Submitter
 CA361849840 rs_1181626947

1 SubmittersRCV000656459
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_020806.5(GPHN):c.127G>A (p.Val43Ile) SNV
Germline		 Chr14:66681169 Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Condition: not provided
Hyperekplexia 1
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C		 Criteria Provided
Conflicting Classifications
 CA7233642 rs_117256383

4 SubmittersRCV000686556RCV004721550RCV002507188
NM_000171.4(GLRA1):c.559+1G>A SNV
Germline		 Chr5:151856300 Likely pathogenic Hyperekplexia 1 Criteria Provided
Single Submitter
 CA361840348 rs_1581620729

1 SubmittersRCV000995556
NM_000171.4(GLRA1):c.206G>A (p.Cys69Tyr) SNV
Germline		 Chr5:151886767 Likely pathogenic Hyperekplexia 1 Criteria Provided
Single Submitter
 CA361846571 rs_1581645142

1 SubmittersRCV000995557
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.560-1G>C SNV
Germline		 Chr5:151855178 Conflicting classifications of pathogenicity Hyperekplexia 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA361840235 rs_748908505

2 SubmittersRCV001056641RCV004697037
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
Hyperekplexia 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA3523647 rs_781570584

4 SubmittersRCV001219177RCV002497748RCV001268800
NM_000171.4(GLRA1):c.184+2T>C SNV
Germline		 Chr5:151892309 Likely pathogenic Hyperekplexia 1 Criteria Provided
Single Submitter
 CA361847830 rs_1754097992

1 SubmittersRCV001219176
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.675C>A (p.Tyr225Ter) SNV
Germline		 Chr5:151855062 Pathogenic Hyperekplexia 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA361839606 rs_2113349880

2 SubmittersRCV001783385
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.298C>A (p.Arg100Ser) SNV
Germline		 Chr5:151859963 Likely pathogenic Hyperekplexia 1 Criteria Provided
Single Submitter
 rs_1581623910

1 SubmittersRCV004595731
NM_000171.4(GLRA1):c.503T>G (p.Met168Arg) SNV
Germline		 Chr5:151856357 Likely pathogenic Hyperekplexia 1 Criteria Provided
Single Submitter

1 SubmittersRCV004598411