Total 326 pathogenic variants reported for Chédiak-Higashi syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter) SNV
Germline
Chr1:235805826 Pathogenic/Likely pathogenic Chediak-Higashi syndrome, adult type
Chédiak-Higashi syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA116442 rs_80338652

6 SubmittersRCV000004013RCV000055730RCV000482098

NM_000081.4(LYST):c.148C>T (p.Arg50Ter) SNV
Germline
Chr1:235830270 Pathogenic Chediak-Higashi syndrome, childhood type
Chédiak-Higashi syndrome
No Assertion Criteria Provided
CA116450 rs_80338643

2 SubmittersRCV000004017RCV000055722

NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter) SNV
Germline
Chr1:235806051 Pathogenic Chediak-Higashi syndrome, childhood type
Chédiak-Higashi syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA116455 rs_80338651

5 SubmittersRCV000004018RCV000055729

NM_000081.4(LYST):c.5996T>A (p.Val1999Asp) SNV
Germline
Chr1:235766204 Pathogenic Chediak-Higashi syndrome, adult type
Chédiak-Higashi syndrome
No Assertion Criteria Provided
CA116465 rs_28942077

2 SubmittersRCV000004021RCV000055738

NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser) SNV
Germline
Chr1:235709107 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
LYST-related disorder
Criteria Provided
Conflicting Classifications
CA344833 rs_80338669

4 SubmittersRCV000055718RCV003421965

NM_000081.4(LYST):c.1540C>T (p.Arg514Ter) SNV
Germline
Chr1:235809278 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA344839 rs_80338645

4 SubmittersRCV000055723

NM_000081.4(LYST):c.11173G>A (p.Gly3725Arg) SNV
Germline
Chr1:235664487 Likely pathogenic Chédiak-Higashi syndrome No Assertion Criteria Provided
CA347123

2 SubmittersRCV000192052

NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter) SNV
Germline
Chr1:235775041 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA347096

2 SubmittersRCV000192046

NM_000081.4(LYST):c.925C>T (p.Arg309Ter) SNV
Germline
Chr1:235809893 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA347079

3 SubmittersRCV000192042

NM_000081.4(LYST):c.772T>C (p.Cys258Arg) SNV
Germline
Chr1:235810046 Likely pathogenic Chédiak-Higashi syndrome No Assertion Criteria Provided
CA347084

2 SubmittersRCV000192043

NM_000081.4(LYST):c.9017A>G (p.Lys3006Arg) SNV
Germline
Chr1:235730874 Conflicting classifications of pathogenicity not specified
Chédiak-Higashi syndrome
Condition: not provided
Thrombocytopenia
Abnormal bleeding
Autoinflammatory syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA206778 rs_140934482

9 SubmittersRCV000193351RCV000629218RCV000994285RCV001270573RCV002262790RCV002517949

NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro) SNV
Germline
Chr1:235759143 Conflicting classifications of pathogenicity not specified
Chédiak-Higashi syndrome
Condition: not provided
Autoinflammatory syndrome
LYST-related disorder
Inborn genetic diseases
Meniere disease
Criteria Provided
Conflicting Classifications
CA205722 rs_138443479

11 SubmittersRCV000192717RCV000329381RCV001354479RCV002262789RCV003917758RCV004020323RCV004567394

NM_000081.4(LYST):c.2363+4T>C SNV
Germline
Chr1:235808451 Conflicting classifications of pathogenicity not specified
Chédiak-Higashi syndrome
Condition: not provided
Autoinflammatory syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA209367 rs_201398337

7 SubmittersRCV000194897RCV000876549RCV002056993RCV002262786RCV002517948

NM_000081.4(LYST):c.1848C>T (p.Asn616=) SNV
Germline
Chr1:235808970 Conflicting classifications of pathogenicity not specified
Chédiak-Higashi syndrome
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
CA207329 rs_376259384

3 SubmittersRCV000193680RCV002056992RCV002262785

NM_000081.4(LYST):c.281C>T (p.Thr94Ile) SNV
Germline
Chr1:235812973 Conflicting classifications of pathogenicity not specified
Chédiak-Higashi syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA205750 rs_777389303

6 SubmittersRCV000192732RCV000380250RCV002225498

NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) SNV
Germline
Chr1:235775029 Conflicting classifications of pathogenicity Condition: not provided
not specified
Chédiak-Higashi syndrome
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
CA1466606 rs_115330112

13 SubmittersRCV000224027RCV000250486RCV000546310RCV002262830

NM_000081.4(LYST):c.10941-7C>A SNV
Germline
Chr1:235677195 Conflicting classifications of pathogenicity Condition: not provided
Chédiak-Higashi syndrome
Autoinflammatory syndrome
not specified
Criteria Provided
Conflicting Classifications
CA1465253 rs_72761794

10 SubmittersRCV000224460RCV000364399RCV002262832RCV001699241

NM_000081.4(LYST):c.7506A>G (p.Gln2502=) SNV
Germline
Chr1:235752126 Conflicting classifications of pathogenicity not specified
Chédiak-Higashi syndrome
Autoinflammatory syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1466117 rs_140434436

10 SubmittersRCV000244233RCV000342045RCV002262872RCV001726072

NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) SNV
Germline
Chr1:235759371 Conflicting classifications of pathogenicity not specified
Chédiak-Higashi syndrome
Condition: not provided
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
CA1466365 rs_147756847

11 SubmittersRCV000246972RCV000321335RCV000584895RCV002262867

NM_000081.4(LYST):c.3394-14T>C SNV
Germline
Chr1:235804679 Conflicting classifications of pathogenicity not specified
Chédiak-Higashi syndrome
Criteria Provided
Conflicting Classifications
CA1467078 rs_372892911

3 SubmittersRCV000243780RCV000345300

NM_000081.4(LYST):c.1686G>C (p.Gln562His) SNV
Germline
Chr1:235809132 Conflicting classifications of pathogenicity not specified
Condition: not provided
Chédiak-Higashi syndrome
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
CA1467420 rs_77091385

8 SubmittersRCV000247334RCV000525039RCV001081207RCV002262861

NM_000081.4(LYST):c.9C>T (p.Thr3=) SNV
Germline
Chr1:235830409 Conflicting classifications of pathogenicity not specified
Chédiak-Higashi syndrome
Condition: not provided
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
CA1467757 rs_33998267

6 SubmittersRCV000249486RCV000395413RCV001775707RCV002262875

NM_000081.4(LYST):c.-5C>T SNV
Germline
Chr1:235830422 Conflicting classifications of pathogenicity not specified
Chédiak-Higashi syndrome
Condition: not provided
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
CA1467760 rs_141317482

4 SubmittersRCV000248049RCV000294585RCV000513207RCV002262860

NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter) SNV
Germline
Chr1:235702776 Pathogenic/Likely pathogenic Condition: not provided
Chédiak-Higashi syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA1465393 rs_754616030

3 SubmittersRCV000300771RCV001381378

NM_000081.4(LYST):c.9969C>T (p.His3323=) SNV
Germline
Chr1:235709265 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications
CA1465465

2 SubmittersRCV000351315

NM_000081.4(LYST):c.9520G>A (p.Val3174Ile) SNV
Germline
Chr1:235720701 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA1465580 rs_199672291

5 SubmittersRCV000347668RCV000494169RCV003387827

NM_000081.4(LYST):c.9045-13T>C SNV
Germline
Chr1:235729670 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1465690 rs_181450025

3 SubmittersRCV000339673RCV000788548

NM_000081.4(LYST):c.7806A>G (p.Gln2602=) SNV
Germline
Chr1:235746502 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1466018 rs_372754364

5 SubmittersRCV000377523RCV001706439

NM_000081.4(LYST):c.7368T>C (p.Asn2456=) SNV
Germline
Chr1:235753136 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
not specified
Criteria Provided
Conflicting Classifications
CA1466156 rs_199631995

4 SubmittersRCV000398407RCV000503305

NM_000081.4(LYST):c.5676G>A (p.Met1892Ile) SNV
Germline
Chr1:235773950 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1466554

3 SubmittersRCV000293155RCV002520469

NM_000081.4(LYST):c.3030A>G (p.Gly1010=) SNV
Germline
Chr1:235806106 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1467160 rs_751511204

4 SubmittersRCV000401621RCV001706440

NM_000081.4(LYST):c.2946T>C (p.Tyr982=) SNV
Germline
Chr1:235806190 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA1467175 rs_145892183

5 SubmittersRCV000298745RCV001727673RCV001699342

NM_000081.4(LYST):c.2700A>G (p.Leu900=) SNV
Germline
Chr1:235806436 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
LYST-related disorder
Criteria Provided
Conflicting Classifications
CA1467231 rs_111463684

3 SubmittersRCV000270787RCV003897672

NM_000081.4(LYST):c.2313G>A (p.Gln771=) SNV
Germline
Chr1:235808505 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1467328 rs_147220685

4 SubmittersRCV000342419RCV001795914RCV001796734

NM_000081.4(LYST):c.1722A>G (p.Leu574=) SNV
Germline
Chr1:235809096 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
LYST-related disorder
Criteria Provided
Conflicting Classifications
CA1467415

3 SubmittersRCV000312995RCV003897673

NM_000081.4(LYST):c.196T>C (p.Leu66=) SNV
Germline
Chr1:235813058 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications
CA1467686 rs_138393416

2 SubmittersRCV000374048

NM_000081.4(LYST):c.*1831A>C SNV
Germline
Chr1:235661109 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10609518

2 SubmittersRCV000286682RCV003417946

NM_000081.4(LYST):c.11076C>T (p.Asn3692=) SNV
Germline
Chr1:235664584 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications
CA1465216

2 SubmittersRCV000307274

NM_000081.4(LYST):c.10800+4G>T SNV
Germline
Chr1:235686945 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
not specified
Condition: not provided
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
CA1465289 rs_41308172

9 SubmittersRCV000301556RCV000499658RCV001555913RCV002262931

NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu) SNV
Germline
Chr1:235697170 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1465358 rs_200511787

4 SubmittersRCV000262603RCV002520467

NM_000081.4(LYST):c.10341G>A (p.Glu3447=) SNV
Germline
Chr1:235702780 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications
CA1465395

2 SubmittersRCV000386202

NM_000081.4(LYST):c.6291C>T (p.Ala2097=) SNV
Germline
Chr1:235759562 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
LYST-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1466391 rs_199857997

4 SubmittersRCV000317868RCV003920201RCV003417949

NM_000081.4(LYST):c.5635-4A>G SNV
Germline
Chr1:235773995 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications
CA1466564 rs_754201076

2 SubmittersRCV000352661

NM_000081.4(LYST):c.5634+11A>G SNV
Germline
Chr1:235774902 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications
CA1466578

3 SubmittersRCV000399445

NM_000081.4(LYST):c.4705A>C (p.Asn1569His) SNV
Germline
Chr1:235787357 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Autoinflammatory syndrome
LYST-related disorder
Inborn genetic diseases
Meniere disease
Criteria Provided
Conflicting Classifications
CA1466767 rs_767687843

10 SubmittersRCV000309417RCV000788549RCV002262932RCV003940114RCV004021440RCV004567847

NM_000081.4(LYST):c.4566A>C (p.Ala1522=) SNV
Germline
Chr1:235788823 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
LYST-related disorder
Criteria Provided
Conflicting Classifications
CA1466801 rs_142344106

3 SubmittersRCV000359454RCV003940115

NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln) SNV
Germline
Chr1:235791905 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Inborn genetic diseases
LYST-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA1466869 rs_111722949

7 SubmittersRCV000324571RCV002520470RCV003940116RCV004689710

NM_000081.4(LYST):c.3898A>G (p.Ile1300Val) SNV
Germline
Chr1:235800912 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA1466975 rs_199855658

6 SubmittersRCV000319478RCV001699289RCV003987499

NM_000081.4(LYST):c.2517T>C (p.Ile839=) SNV
Germline
Chr1:235806619 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications
CA1467262 rs_78172154

2 SubmittersRCV000290762

NM_000081.4(LYST):c.1725G>A (p.Ser575=) SNV
Germline
Chr1:235809093 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications
CA1467413

2 SubmittersRCV000402319

NM_000081.4(LYST):c.244C>T (p.Leu82=) SNV
Germline
Chr1:235813010 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1467681

3 SubmittersRCV000317120RCV003417950

NM_000081.4(LYST):c.-140G>C SNV
Germline
Chr1:235866885 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10609573

3 SubmittersRCV000266657RCV003417951

NM_000081.4(LYST):c.*1295T>C SNV
Germline
Chr1:235661645 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10610397

2 SubmittersRCV000298595RCV003417947

NM_000081.4(LYST):c.6744A>G (p.Leu2248=) SNV
Germline
Chr1:235759109 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications
CA10610417

2 SubmittersRCV000269676

NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys) SNV
Germline
Chr1:235759180 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications
CA1466335

3 SubmittersRCV000365446

NM_000081.4(LYST):c.2769A>C (p.Ser923=) SNV
Germline
Chr1:235806367 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
not specified
Condition: not provided
Autoinflammatory syndrome
LYST-related disorder
Criteria Provided
Conflicting Classifications
CA1467214 rs_112739986

7 SubmittersRCV000274201RCV000500677RCV001573880RCV002262935RCV003957550

NM_000081.4(LYST):c.2724C>T (p.Cys908=) SNV
Germline
Chr1:235806412 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1467227 rs_201440611

4 SubmittersRCV000388371RCV004984794

NM_000081.4(LYST):c.*891G>C SNV
Germline
Chr1:235662049 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10610427

2 SubmittersRCV000368012RCV003417948

NM_000081.4(LYST):c.8742A>G (p.Lys2914=) SNV
Germline
Chr1:235733562 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications
CA10610487

2 SubmittersRCV000259595

NM_000081.4(LYST):c.3834G>A (p.Leu1278=) SNV
Germline
Chr1:235800976 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
LYST-related disorder
Criteria Provided
Conflicting Classifications
CA1466982 rs_148542548

3 SubmittersRCV000374118RCV003957549

NM_000081.4(LYST):c.3712+12T>C SNV
Germline
Chr1:235802896 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications
CA1467013

2 SubmittersRCV000330076

NM_000081.4(LYST):c.2725G>A (p.Val909Ile) SNV
Germline
Chr1:235806411 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1467226

4 SubmittersRCV000333873RCV003233545RCV002522121

NM_000081.4(LYST):c.1655T>C (p.Val552Ala) SNV
Germline
Chr1:235809163 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1467432 rs_199617821

4 SubmittersRCV000277853RCV000874249RCV002520474

NM_000081.4(LYST):c.6388G>A (p.Asp2130Asn) SNV
Germline
Chr1:235759465 Conflicting classifications of pathogenicity Condition: not provided
Chédiak-Higashi syndrome
Inborn genetic diseases
LYST-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA1466382 rs_148371004

6 SubmittersRCV000490083RCV001078906RCV002526027RCV003960138RCV004586738

NM_000081.4(LYST):c.8802-2A>G SNV
Germline
Chr1:235731179 Pathogenic/Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA344950293

2 SubmittersRCV000500831

NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile) SNV
Germline
Chr1:235744103 Conflicting classifications of pathogenicity not specified
Chédiak-Higashi syndrome
Condition: not provided
Autoinflammatory syndrome
LYST-related disorder
Criteria Provided
Conflicting Classifications
CA1465962 rs_113209379

8 SubmittersRCV000499765RCV001096400RCV001573797RCV002263707RCV003403167

NM_000081.4(LYST):c.463G>C (p.Val155Leu) SNV
Germline
Chr1:235810355 Conflicting classifications of pathogenicity not specified
Chédiak-Higashi syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1467620 rs_769942827

3 SubmittersRCV000502456RCV001309227RCV003419863

NM_000081.4(LYST):c.10221C>T (p.Tyr3407=) SNV
Germline
Chr1:235702900 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications
CA1465418 rs_146457386

2 SubmittersRCV000537204

NM_000081.4(LYST):c.1829A>T (p.His610Leu) SNV
Germline
Chr1:235808989 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
not specified
Criteria Provided
Conflicting Classifications
CA1467395

3 SubmittersRCV000541039RCV004701602

NM_000081.4(LYST):c.7870C>T (p.Arg2624Trp) SNV
Germline
Chr1:235746438 Conflicting classifications of pathogenicity Condition: not provided
not specified
Chédiak-Higashi syndrome
Autoinflammatory syndrome
LYST-related disorder
Criteria Provided
Conflicting Classifications
CA1466004 rs_150306354

7 SubmittersRCV000540467RCV000606910RCV001079296RCV002263731RCV003935392

NM_015295.3(SMCHD1):c.424+1G>A SNV
Germline
Chr18:2667032 Pathogenic/Likely pathogenic Condition: not provided
Chédiak-Higashi syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA401688349 rs_1555625396

2 SubmittersRCV000596447RCV004813121

NM_000081.4(LYST):c.9552G>T (p.Leu3184Phe) SNV
Germline
Chr1:235720669 Conflicting classifications of pathogenicity Condition: not provided
Chédiak-Higashi syndrome
Criteria Provided
Conflicting Classifications
CA1465575 rs_556200563

3 SubmittersRCV000592250RCV000816912

NM_000081.4(LYST):c.3507C>T (p.Leu1169=) SNV
Germline
Chr1:235804552 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
not specified
Condition: not provided
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
CA1467066 rs_74861744

7 SubmittersRCV000625112RCV001701410RCV001726276RCV002263839

NM_000081.4(LYST):c.8487C>T (p.Ile2829=) SNV
Germline
Chr1:235734531 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1465851 rs_144597913

5 SubmittersRCV000625392RCV001700276RCV003222065

NM_000081.4(LYST):c.11086G>A (p.Val3696Ile) SNV
Germline
Chr1:235664574 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
not specified
LYST-related disorder
Criteria Provided
Conflicting Classifications
CA1465214 rs_147221131

6 SubmittersRCV000629242RCV001568813RCV003403443RCV003917998

NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter) SNV
Germline
Chr1:235766244 Pathogenic/Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA344948061

2 SubmittersRCV000629191

NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys) SNV
Germline
Chr1:235731066 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
not specified
Autoinflammatory syndrome
LYST-related disorder
Criteria Provided
Conflicting Classifications
CA1465729 rs_34702903

10 SubmittersRCV001027832RCV000629223RCV001821769RCV002263846RCV003928044

NM_000081.4(LYST):c.8806G>A (p.Val2936Ile) SNV
Germline
Chr1:235731173 Conflicting classifications of pathogenicity Condition: not provided
Chédiak-Higashi syndrome
Autoinflammatory syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1465753 rs_2753327

10 SubmittersRCV000658240RCV000629187RCV002263841RCV002528824

NM_000081.4(LYST):c.2963G>A (p.Arg988Gln) SNV
Germline
Chr1:235806173 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Autoinflammatory syndrome
not specified
Criteria Provided
Conflicting Classifications
CA1467171 rs_150953050

7 SubmittersRCV000629211RCV001508959RCV002263845RCV003994052

NM_000081.4(LYST):c.4637C>T (p.Ala1546Val) SNV
Germline
Chr1:235788752 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
LYST-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1466790 rs_142983846

4 SubmittersRCV000629234RCV003965313RCV004711242

NM_000081.4(LYST):c.2754G>A (p.Glu918=) SNV
Germline
Chr1:235806382 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1467219 rs_373577384

3 SubmittersRCV000629241RCV001311683

NM_000081.4(LYST):c.2443C>T (p.His815Tyr) SNV
Germline
Chr1:235806693 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1467275

3 SubmittersRCV000629217RCV004025356

NM_000081.4(LYST):c.3217A>G (p.Ile1073Val) SNV
Germline
Chr1:235805919 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1467120 rs_151130915

2 SubmittersRCV000629213RCV004722991

NM_000081.4(LYST):c.4863-4G>T SNV
Germline
Chr1:235782091 Likely pathogenic Chédiak-Higashi syndrome No Assertion Criteria Provided

1 SubmittersRCV000681452

NM_000081.4(LYST):c.5719A>G (p.Ile1907Val) SNV
Germline
Chr1:235773907 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications

4 SubmittersRCV000681453RCV003480760

NM_000081.4(LYST):c.2413G>T (p.Glu805Ter) SNV
Germline
Chr1:235806723 Pathogenic/Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV000692870

NM_000081.4(LYST):c.7862T>C (p.Met2621Thr) SNV
Germline
Chr1:235746446 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
rs_368500877

6 SubmittersRCV000702332RCV000728210RCV002536355RCV003230577

NM_000081.4(LYST):c.1664A>C (p.His555Pro) SNV
Germline
Chr1:235809154 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
not specified
LYST-related disorder
Criteria Provided
Conflicting Classifications

5 SubmittersRCV000693852RCV004702334RCV004745554

NM_000081.4(LYST):c.1507C>T (p.Arg503Ter) SNV
Germline
Chr1:235809311 Pathogenic/Likely pathogenic Condition: not provided
Chédiak-Higashi syndrome
Criteria Provided
Multiple Submitters
No Conflicts
rs_1558282769

3 SubmittersRCV000760333RCV001855924

NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser) SNV
Germline
Chr1:235802937 Conflicting classifications of pathogenicity Inborn genetic diseases
Chédiak-Higashi syndrome
not specified
Condition: not provided
Autoinflammatory syndrome
LYST-related disorder
Criteria Provided
Conflicting Classifications
rs_145553827

8 SubmittersRCV002535771RCV001080279RCV002509536RCV000788254RCV002263976RCV003947980

NM_000081.4(LYST):c.9628-15C>T SNV
Germline
Chr1:235715372 Conflicting classifications of pathogenicity Condition: not provided
Chédiak-Higashi syndrome
not specified
Criteria Provided
Conflicting Classifications
rs_751859873

3 SubmittersRCV000788253RCV002535770RCV004526770

NM_000081.4(LYST):c.7627+6A>T SNV
Germline
Chr1:235751999 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_749282192

4 SubmittersRCV000822160RCV000994286

NM_000081.4(LYST):c.6216A>G (p.Val2072=) SNV
Germline
Chr1:235762757 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
rs_371248013

6 SubmittersRCV000878828RCV001573079RCV002264040

NM_000081.4(LYST):c.4983G>A (p.Leu1661=) SNV
Germline
Chr1:235781967 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications
rs_1482156206

2 SubmittersRCV000875895

NM_000081.4(LYST):c.4548C>T (p.Ser1516=) SNV
Germline
Chr1:235788841 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
rs_116551057

5 SubmittersRCV000871142RCV001702738RCV003396521

NM_000081.4(LYST):c.2826A>G (p.Pro942=) SNV
Germline
Chr1:235806310 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_149558986

3 SubmittersRCV001408626RCV004711351

NM_000081.4(LYST):c.2150A>G (p.Asn717Ser) SNV
Germline
Chr1:235808668 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_201255245

4 SubmittersRCV000875261RCV002539194RCV004726716

NM_000081.4(LYST):c.692A>G (p.Gln231Arg) SNV
Germline
Chr1:235810126 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
LYST-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_147433918

4 SubmittersRCV001397473RCV003955714RCV004027833

NM_000081.4(LYST):c.6881+8T>C SNV
Germline
Chr1:235758964 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
not specified
Criteria Provided
Conflicting Classifications
rs_372075872

2 SubmittersRCV001405483RCV004702499

NM_000081.4(LYST):c.4006+8G>A SNV
Germline
Chr1:235800312 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
rs_369153654

5 SubmittersRCV000877201RCV001796297RCV004586969

NM_000081.4(LYST):c.7911G>A (p.Thr2637=) SNV
Germline
Chr1:235746397 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications
rs_140229368

2 SubmittersRCV000951803

NM_000081.4(LYST):c.10758C>T (p.Cys3586=) SNV
Germline
Chr1:235686991 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications
rs_145136281

2 SubmittersRCV000894895

NM_000081.4(LYST):c.9333C>A (p.Tyr3111Ter) SNV
Germline
Chr1:235720888 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV000991361

NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys) SNV
Germline
Chr1:235788811 Conflicting classifications of pathogenicity Condition: not provided
Chédiak-Higashi syndrome
Criteria Provided
Conflicting Classifications
rs_117609949

4 SubmittersRCV000994287RCV001096608

NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter) SNV
Germline
Chr1:235712108 Pathogenic/Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV001039868

NM_000081.4(LYST):c.1975T>C (p.Cys659Arg) SNV
Germline
Chr1:235808843 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

3 SubmittersRCV001037985RCV002553040

NM_000081.4(LYST):c.4862+2T>A SNV
Germline
Chr1:235787198 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV001056070

NM_000081.4(LYST):c.11229A>G (p.Arg3743=) SNV
Germline
Chr1:235664022 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
LYST-related disorder
Criteria Provided
Conflicting Classifications

3 SubmittersRCV001096201RCV003898087

NM_000081.4(LYST):c.10740G>A (p.Leu3580=) SNV
Germline
Chr1:235687009 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV001099741

NM_000081.4(LYST):c.9990G>A (p.Ala3330=) SNV
Germline
Chr1:235709244 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV001096307

NM_000081.4(LYST):c.9244T>C (p.Leu3082=) SNV
Germline
Chr1:235724099 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV001098052

NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr) SNV
Germline
Chr1:235759366 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Autoinflammatory syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
rs_201513511

5 SubmittersRCV001096501RCV002264180RCV001532579RCV003987782

NM_000081.4(LYST):c.5583T>C (p.Ile1861=) SNV
Germline
Chr1:235774964 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
not specified
Criteria Provided
Conflicting Classifications

3 SubmittersRCV001100027RCV004800694

NM_000081.4(LYST):c.4632C>T (p.Ser1544=) SNV
Germline
Chr1:235788757 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
rs_373930104

3 SubmittersRCV001096607RCV002264181

NM_000081.4(LYST):c.4053A>G (p.Ser1351=) SNV
Germline
Chr1:235793566 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
LYST-related disorder
Criteria Provided
Conflicting Classifications

3 SubmittersRCV001098339RCV003918672

NM_000081.4(LYST):c.372A>G (p.Leu124=) SNV
Germline
Chr1:235810446 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV001100321

NM_000081.4(LYST):c.9162+15A>G SNV
Germline
Chr1:235728061 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV001098053

NM_000081.4(LYST):c.8152-8G>A SNV
Germline
Chr1:235741636 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV001101817

NM_000081.4(LYST):c.5461-14A>T SNV
Germline
Chr1:235775100 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV001102009

NM_000081.4(LYST):c.11038+11T>C SNV
Germline
Chr1:235677080 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV001198419

NM_000081.4(LYST):c.2647C>G (p.Pro883Ala) SNV
Germline
Chr1:235806489 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

3 SubmittersRCV001216244RCV003994236RCV004033991

NM_000081.4(LYST):c.4204G>A (p.Ala1402Thr) SNV
Germline
Chr1:235792038 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

3 SubmittersRCV001209841RCV004986948

NM_000081.4(LYST):c.5784+2C>T SNV
Germline
Chr1:235773840 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
rs_763156837

2 SubmittersRCV001216285RCV002264225

NM_000081.4(LYST):c.4288C>T (p.Arg1430Ter) SNV
Germline
Chr1:235791954 Pathogenic Thrombocytopenia
Abnormal bleeding
Chédiak-Higashi syndrome
Criteria Provided
Single Submitter
rs_1468055437

2 SubmittersRCV001270503RCV003770411

NM_000081.4(LYST):c.9616G>C (p.Asp3206His) SNV
Germline
Chr1:235716723 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Spastic ataxia
Criteria Provided
Conflicting Classifications
rs_746911004

2 SubmittersRCV001319842RCV001644984

NM_000081.4(LYST):c.926G>A (p.Arg309Gln) SNV
Germline
Chr1:235809892 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV001322084RCV004987074

NM_000081.4(LYST):c.7045C>T (p.Gln2349Ter) SNV
Unknown
Chr1:235757295 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004576826

NM_000081.4(LYST):c.9838C>T (p.Arg3280Ter) SNV
Germline
Chr1:235712144 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV001935751

NM_000081.4(LYST):c.7018G>A (p.Val2340Ile) SNV
Germline
Chr1:235757322 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV001349250RCV004036578

NM_000081.4(LYST):c.5674A>G (p.Met1892Val) SNV
Germline
Chr1:235773952 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV001359286

NM_000081.4(LYST):c.1406T>A (p.Leu469Ter) SNV
Germline
Chr1:235809412 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV001388508

NM_000081.4(LYST):c.985C>T (p.Arg329Ter) SNV
Germline
Chr1:235809833 Pathogenic/Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV001389987

NM_000081.4(LYST):c.285T>C (p.Asp95=) SNV
Germline
Chr1:235810533 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
not specified
Criteria Provided
Conflicting Classifications

3 SubmittersRCV001406385RCV004690102

NM_000081.4(LYST):c.5612T>C (p.Ile1871Thr) SNV
Germline
Chr1:235774935 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
rs_559869925

3 SubmittersRCV001449179RCV001762682RCV002264324

NM_000081.4(LYST):c.716G>A (p.Ser239Asn) SNV
Germline
Chr1:235810102 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Autoinflammatory syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_534142793

3 SubmittersRCV001428367RCV002264313RCV002555149

NM_000081.4(LYST):c.1897A>T (p.Lys633Ter) SNV
Germline
Chr1:235808921 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV001783621

NM_000081.4(LYST):c.11002G>T (p.Glu3668Ter) SNV
Germline
Chr1:235677127 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV001783622

NM_000081.4(LYST):c.8358+2T>C SNV
Germline
Chr1:235741420 Pathogenic/Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV001783623

NM_000081.4(LYST):c.10468G>T (p.Gly3490Ter) SNV
Germline
Chr1:235697179 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV001783625

NM_000081.4(LYST):c.7645C>T (p.Gln2549Ter) SNV
Germline
Chr1:235751345 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV001783626

NM_000081.4(LYST):c.2962C>T (p.Arg988Ter) SNV
Germline
Chr1:235806174 Pathogenic/Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002037676

NM_000081.4(LYST):c.8536-1G>A SNV
Germline
Chr1:235733907 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV001941823

NM_000081.4(LYST):c.4978C>T (p.Gln1660Ter) SNV
Germline
Chr1:235781972 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV001896870

NM_000081.4(LYST):c.6283C>T (p.Gln2095Ter) SNV
Germline
Chr1:235759570 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV001881298

NM_000081.4(LYST):c.3127A>G (p.Ile1043Val) SNV
Germline
Chr1:235806009 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV001885450RCV003382655

NM_000081.4(LYST):c.9044+1G>A SNV
Germline
Chr1:235730846 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV001986003

NM_000081.4(LYST):c.3574G>T (p.Glu1192Ter) SNV
Germline
Chr1:235803046 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002037789

NM_000081.4(LYST):c.5923-1G>A SNV
Germline
Chr1:235766278 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV001976726

NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter) SNV
Germline
Chr1:235775056 Pathogenic/Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV001925907

NM_000081.4(LYST):c.4266C>A (p.Ala1422=) SNV
Germline
Chr1:235791976 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
rs_764207947

2 SubmittersRCV001949555RCV002264439

NM_000081.4(LYST):c.6931C>T (p.Leu2311=) SNV
Germline
Chr1:235757409 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
rs_764843145

3 SubmittersRCV002192964RCV004711756RCV002264455

NM_000081.4(LYST):c.5919G>A (p.Leu1973=) SNV
Germline
Chr1:235770163 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
rs_748908539

2 SubmittersRCV002140927RCV002264474

NM_000081.4(LYST):c.345A>G (p.Gln115=) SNV
Germline
Chr1:235810473 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV002217728

NM_000081.4(LYST):c.3256G>A (p.Glu1086Lys) SNV
Germline
Chr1:235805880 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

3 SubmittersRCV002093602RCV003987969RCV004982899

NM_000081.4(LYST):c.10965G>C (p.Ala3655=) SNV
Germline
Chr1:235677164 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
rs_762254542

2 SubmittersRCV002181740RCV002264478

NM_000081.4(LYST):c.8869C>T (p.Arg2957Ter) SNV
Germline
Chr1:235731110 Pathogenic/Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002244100

NM_000081.4(LYST):c.10095G>C (p.Lys3365Asn) SNV
Germline
Chr1:235709139 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002254225

NM_000081.4(LYST):c.7136T>C (p.Leu2379Pro) SNV
Germline
Chr1:235755571 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002254228

NM_000081.4(LYST):c.45T>C (p.Asp15=) SNV
Germline
Chr1:235830373 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Chédiak-Higashi syndrome
LYST-related disorder
Criteria Provided
Conflicting Classifications
rs_1675833748

3 SubmittersRCV002262042RCV003523121RCV003933718

NM_000081.4(LYST):c.4929A>G (p.Lys1643=) SNV
Germline
Chr1:235782021 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Chédiak-Higashi syndrome
Criteria Provided
Conflicting Classifications
rs_750662250

2 SubmittersRCV002262043RCV003523122

NM_000081.4(LYST):c.6712C>T (p.Arg2238Ter) SNV
Germline
Chr1:235759141 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002283891

NM_000081.4(LYST):c.7786C>T (p.Arg2596Ter) SNV
Germline
Chr1:235746522 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002651429

NM_000081.4(LYST):c.8080C>T (p.Gln2694Ter) SNV
Germline
Chr1:235744050 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003112106

NM_000081.4(LYST):c.6676C>T (p.Arg2226Ter) SNV
Germline
Chr1:235759177 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003112107

NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter) SNV
Germline
Chr1:235758991 Pathogenic/Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002613244

NM_000081.4(LYST):c.433C>T (p.Arg145Ter) SNV
Germline
Chr1:235810385 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002605360

NM_000081.4(LYST):c.4863-1G>C SNV
Germline
Chr1:235782088 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002646880

NM_000081.4(LYST):c.7168C>T (p.Gln2390Ter) SNV
Germline
Chr1:235755539 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002816605

NM_000081.4(LYST):c.7460+2T>A SNV
Germline
Chr1:235753042 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002839183

NM_000081.4(LYST):c.192+1G>A SNV
Germline
Chr1:235830225 Pathogenic/Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002875715

NM_000081.4(LYST):c.8358+1G>C SNV
Germline
Chr1:235741421 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002871444

NM_000081.4(LYST):c.6397C>T (p.Gln2133Ter) SNV
Germline
Chr1:235759456 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002899386

NM_000081.4(LYST):c.3770T>A (p.Leu1257Ter) SNV
Germline
Chr1:235801040 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002927241

NM_000081.4(LYST):c.1691C>T (p.Ala564Val) SNV
Germline
Chr1:235809127 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

3 SubmittersRCV002926762RCV003479447RCV004642063

NM_000081.4(LYST):c.2437C>T (p.Arg813Ter) SNV
Germline
Chr1:235806699 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003003064

NM_000081.4(LYST):c.5023+1G>A SNV
Germline
Chr1:235781926 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003026912

NM_000081.4(LYST):c.2158C>T (p.Gln720Ter) SNV
Germline
Chr1:235808660 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003051777

NM_000081.4(LYST):c.9624C>A (p.Tyr3208Ter) SNV
Unknown
Chr1:235716715 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003461814

NM_000081.4(LYST):c.4116+1G>A SNV
Unknown
Chr1:235793502 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003470003

NM_000081.4(LYST):c.6882-1G>T SNV
Unknown
Chr1:235757459 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003470004

NM_000081.4(LYST):c.4858C>T (p.Gln1620Ter) SNV
Unknown
Chr1:235787204 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003469975

NM_000081.4(LYST):c.10813G>T (p.Glu3605Ter) SNV
Unknown
Chr1:235677607 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003469979

NM_000081.4(LYST):c.4006+2T>C SNV
Unknown
Chr1:235800318 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003461803

NM_000081.4(LYST):c.10643T>A (p.Leu3548Ter) SNV
Unknown
Chr1:235693408 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003469983

NM_000081.4(LYST):c.2063G>A (p.Trp688Ter) SNV
Unknown
Chr1:235808755 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003469984

NM_000081.4(LYST):c.5772G>A (p.Trp1924Ter) SNV
Unknown
Chr1:235773854 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003469989

NM_000081.4(LYST):c.8801+1G>A SNV
Unknown
Chr1:235733502 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003469990

NM_000081.4(LYST):c.9784+1G>T SNV
Unknown
Chr1:235715200 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003461805

NM_000081.4(LYST):c.9200G>A (p.Trp3067Ter) SNV
Unknown
Chr1:235724143 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003461806

NM_000081.4(LYST):c.6616C>T (p.Gln2206Ter) SNV
Unknown
Chr1:235759237 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003461807

NM_000081.4(LYST):c.8358+2T>G SNV
Unknown
Chr1:235741420 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003461809

NM_000081.4(LYST):c.4969G>T (p.Glu1657Ter) SNV
Unknown
Chr1:235781981 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003469993

NM_000081.4(LYST):c.8768G>A (p.Trp2923Ter) SNV
Unknown
Chr1:235733536 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003461810

NM_000081.4(LYST):c.7781-1G>T SNV
Unknown
Chr1:235746528 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003469996

NM_000081.4(LYST):c.6050T>G (p.Leu2017Ter) SNV
Unknown
Chr1:235766150 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003461812

NM_000081.4(LYST):c.7010T>A (p.Leu2337Ter) SNV
Unknown
Chr1:235757330 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003469997

NM_000081.4(LYST):c.10489C>T (p.Gln3497Ter) SNV
Unknown
Chr1:235697158 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003461813

NM_000081.4(LYST):c.3202C>T (p.Gln1068Ter) SNV
Germline
Chr1:235805934 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003486325

NM_000081.4(LYST):c.5519C>G (p.Ser1840Ter) SNV
Germline
Chr1:235775028 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003522116

NM_000081.4(LYST):c.4900A>T (p.Lys1634Ter) SNV
Germline
Chr1:235782050 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003522178

NM_000081.4(LYST):c.4434G>A (p.Trp1478Ter) SNV
Germline
Chr1:235791808 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003522209

NM_000081.4(LYST):c.2016C>A (p.Tyr672Ter) SNV
Germline
Chr1:235808802 Pathogenic/Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003522186

NM_000081.4(LYST):c.7461-1G>A SNV
Germline
Chr1:235752172 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003524968

NM_000081.4(LYST):c.5881C>T (p.Gln1961Ter) SNV
Germline
Chr1:235770201 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003524972

NM_000081.4(LYST):c.1361G>A (p.Trp454Ter) SNV
Germline
Chr1:235809457 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003523792

NM_000081.4(LYST):c.130C>T (p.Gln44Ter) SNV
Germline
Chr1:235830288 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003523867

NM_000081.4(LYST):c.5923-2A>G SNV
Germline
Chr1:235766279 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003524428

NM_000081.4(LYST):c.3713-2A>C SNV
Germline
Chr1:235801099 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003523755

NM_000081.4(LYST):c.1189A>T (p.Arg397Ter) SNV
Germline
Chr1:235809629 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003524516

NM_000081.4(LYST):c.1202T>G (p.Leu401Ter) SNV
Germline
Chr1:235809616 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003524578

NM_000081.4(LYST):c.1492A>T (p.Arg498Ter) SNV
Germline
Chr1:235809326 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003522858

NM_000081.4(LYST):c.10360G>T (p.Glu3454Ter) SNV
Germline
Chr1:235702761 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003522610

NM_000081.4(LYST):c.9239G>A (p.Trp3080Ter) SNV
Germline
Chr1:235724104 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003636314

NM_000081.4(LYST):c.9463C>T (p.Arg3155Ter) SNV
Germline
Chr1:235720758 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003636947

NM_000081.4(LYST):c.106G>T (p.Glu36Ter) SNV
Germline
Chr1:235830312 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003637117

NM_000081.4(LYST):c.192+2T>C SNV
Germline
Chr1:235830224 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003637269

NM_000081.4(LYST):c.5214+1G>C SNV
Germline
Chr1:235780864 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003637355

NM_000081.4(LYST):c.9612T>G (p.Tyr3204Ter) SNV
Germline
Chr1:235716727 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003637369

NM_000081.4(LYST):c.5785C>T (p.Gln1929Ter) SNV
Germline
Chr1:235770297 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003637686

NM_000081.4(LYST):c.9925+1G>T SNV
Germline
Chr1:235712056 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003638001

NM_000081.4(LYST):c.10027C>T (p.Gln3343Ter) SNV
Germline
Chr1:235709207 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003638057

NM_000081.4(LYST):c.10601C>A (p.Ser3534Ter) SNV
Germline
Chr1:235693450 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003635446

NM_000081.4(LYST):c.9925+2T>C SNV
Germline
Chr1:235712055 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003635489

NM_000081.4(LYST):c.9627+1G>A SNV
Germline
Chr1:235716711 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003635622

NM_000081.4(LYST):c.6254-1G>C SNV
Germline
Chr1:235759600 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003835945

NM_000081.4(LYST):c.6078C>G (p.Tyr2026Ter) SNV
Germline
Chr1:235766122 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003835218

NM_000081.4(LYST):c.10153G>T (p.Gly3385Ter) SNV
Germline
Chr1:235702968 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003869888

NM_000081.4(LYST):c.10681C>T (p.Gln3561Ter) SNV
Unknown
Chr1:235693370 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004576818

NM_000081.4(LYST):c.484C>T (p.Gln162Ter) SNV
Unknown
Chr1:235810334 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004576820

NM_000081.4(LYST):c.8613-2A>T SNV
Unknown
Chr1:235733693 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004576823

NM_000081.4(LYST):c.4117-2A>G SNV
Unknown
Chr1:235792127 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004576825

NM_000081.4(LYST):c.8443G>T (p.Glu2815Ter) SNV
Unknown
Chr1:235734575 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004576827

NM_000081.4(LYST):c.1518T>G (p.Tyr506Ter) SNV
Unknown
Chr1:235809300 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004576829