Total 379 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 Likely pathogenic CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE
Chédiak-Higashi syndrome
Criteria Provided
Single Submitter
CA116450 rs_80338643

3 SubmittersRCV000004017RCV000055722

NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter) SNV
Germline
Chr1:235806051 Pathogenic CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE
Chédiak-Higashi syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA116455 rs_80338651

6 SubmittersRCV000004018RCV000055729RCV005003332

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

5 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 Criteria Provided
Single Submitter
CA347123 rs_797044542

3 SubmittersRCV000192052

NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter) SNV
Germline
Chr1:235775041 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA347096 rs_757222354

2 SubmittersRCV000192046

NM_000081.4(LYST):c.925C>T (p.Arg309Ter) SNV
Germline
Chr1:235809893 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA347079 rs_370022675

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 rs_797044534

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
Abnormal bleeding
Thrombocytopenia
Inborn genetic diseases
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
CA206778 rs_140934482

10 SubmittersRCV000193351RCV000629218RCV000994285RCV001270573RCV002517949RCV002262790

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

12 SubmittersRCV000192717RCV000329381RCV002262789RCV003917758RCV001354479RCV004020323RCV004567394

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

8 SubmittersRCV000194897RCV002262786RCV002517948RCV000876549RCV002056993

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

7 SubmittersRCV000192732RCV000380250RCV002225498

NM_000081.4(LYST):c.2971C>A (p.His991Asn) SNV
Germline
Chr1:235806165 Likely pathogenic Recurrent infections
Chédiak-Higashi syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA339629 rs_864309530

2 SubmittersRCV000202612RCV005230075

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
not specified
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
CA1465253 rs_72761794

10 SubmittersRCV000224460RCV000364399RCV001699241RCV002262832

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 Chédiak-Higashi syndrome
not specified
Criteria Provided
Conflicting Classifications
CA1467078 rs_372892911

4 SubmittersRCV000345300RCV000243780

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

8 SubmittersRCV000247334RCV001081207RCV000525039RCV002262861

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
Condition: not provided
Chédiak-Higashi syndrome
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
CA1467760 rs_141317482

4 SubmittersRCV000248049RCV000513207RCV000294585RCV002262860

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

4 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 rs_200610828

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 rs_143857674

3 SubmittersRCV000293155RCV002520469

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

4 SubmittersRCV001706440RCV000401621

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

6 SubmittersRCV000298745RCV001699342RCV001727673

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
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA1467328 rs_147220685

4 SubmittersRCV000342419RCV001796734RCV001795914

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 rs_762078094

3 SubmittersRCV000312995RCV003897673

NM_000081.4(LYST):c.196T>C (p.Leu66=) SNV
Germline
Chr1:235813058 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
not specified
Criteria Provided
Conflicting Classifications
CA1467686 rs_138393416

3 SubmittersRCV000374048RCV005434776

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 rs_142608315

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 rs_368394921

2 SubmittersRCV000307274

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

9 SubmittersRCV000301556RCV002262931RCV001555913RCV000499658

NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu) SNV
Germline
Chr1:235697170 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA1465358 rs_200511787

6 SubmittersRCV000262603RCV002520467RCV005238867

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 rs_752160342

2 SubmittersRCV000386202

NM_000081.4(LYST):c.7836A>G (p.Ser2612=) SNV
Germline
Chr1:235746472 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications
CA10609537 rs_886046174

2 SubmittersRCV000346283

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

4 SubmittersRCV000317868RCV003417949RCV003920201

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 rs_373971587

3 SubmittersRCV000399445

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

10 SubmittersRCV000309417RCV003940114RCV004021440RCV004567847RCV000788549RCV002262932

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
LYST-related disorder
not specified
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1466869 rs_111722949

7 SubmittersRCV000324571RCV003940116RCV004689710RCV002520470

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.3083C>G (p.Ser1028Cys) SNV
Germline
Chr1:235806053 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Autoinflammatory syndrome
LYST-related disorder
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA1467144 rs_150636017

10 SubmittersRCV000301818RCV000493084RCV002262933RCV004745327RCV002522120RCV005238868

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 rs_144919024

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 rs_376821187

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 rs_544018977

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 rs_77395892

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 rs_886046176

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 rs_375665715

3 SubmittersRCV000365446

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

7 SubmittersRCV000274201RCV003957550RCV001573880RCV002262935RCV000500677

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 rs_41269373

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 rs_886046172

2 SubmittersRCV000259595

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

3 SubmittersRCV003957549RCV000374118

NM_000081.4(LYST):c.3712+12T>C SNV
Germline
Chr1:235802896 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications
CA1467013 rs_374949148

2 SubmittersRCV000330076

NM_000081.4(LYST):c.2725G>A (p.Val909Ile) SNV
Germline
Chr1:235806411 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1467226 rs_146335682

4 SubmittersRCV000333873RCV002522121RCV003233545

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

5 SubmittersRCV000277853RCV000874249RCV002520474

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

6 SubmittersRCV001078906RCV000490083RCV003960138RCV004586738RCV002526027

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 rs_2527531929

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
LYST-related disorder
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
CA1465962 rs_113209379

8 SubmittersRCV000499765RCV001096400RCV001573797RCV003403167RCV002263707

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 rs_145298434

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_000081.4(LYST):c.7780+2C>T SNV
Germline
Chr1:235751208 Conflicting classifications of pathogenicity Condition: not provided
Chédiak-Higashi syndrome
Criteria Provided
Conflicting Classifications
CA1466052 rs_760108842

3 SubmittersRCV000598280RCV001860015

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
not specified
Criteria Provided
Conflicting Classifications
CA1465575 rs_556200563

4 SubmittersRCV000592250RCV000816912RCV005435048

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 rs_1188244229

2 SubmittersRCV000629191

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

10 SubmittersRCV000629223RCV001027832RCV001821769RCV002263846RCV003928044

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

10 SubmittersRCV000629187RCV000658240RCV002528824RCV002263841

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

8 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 rs_141764855

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
CA529485119 rs_201382097

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
CA1466546 rs_370441301

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
CA344957843 rs_762160809

2 SubmittersRCV000692870

NM_000081.4(LYST):c.7862T>C (p.Met2621Thr) SNV
Germline
Chr1:235746446 Conflicting classifications of pathogenicity Condition: not provided
Chédiak-Higashi syndrome
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA1466007 rs_368500877

6 SubmittersRCV000728210RCV000702332RCV002536355RCV003230577

NM_000081.4(LYST):c.1664A>C (p.His555Pro) SNV
Germline
Chr1:235809154 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
LYST-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA1467429 rs_201106245

5 SubmittersRCV000693852RCV004745554RCV004702334

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
CA344962243 rs_1558282769

3 SubmittersRCV000760333RCV001855924

NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser) SNV
Germline
Chr1:235802937 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Condition: not provided
LYST-related disorder
not specified
Chédiak-Higashi syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1467019 rs_145553827

8 SubmittersRCV002263976RCV000788254RCV003947980RCV002509536RCV001080279RCV002535771

NM_000081.4(LYST):c.9628-15C>T SNV
Germline
Chr1:235715372 Conflicting classifications of pathogenicity Condition: not provided
not specified
Chédiak-Higashi syndrome
Criteria Provided
Conflicting Classifications
CA1465521 rs_751859873

3 SubmittersRCV000788253RCV004526770RCV002535770

NM_000081.4(LYST):c.6682G>C (p.Asp2228His) SNV
Germline
Chr1:235759171 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA1466331 rs_150270086

5 SubmittersRCV000822779RCV001585763RCV002535959RCV005240624

NM_000081.4(LYST):c.446T>C (p.Ile149Thr) SNV
Germline
Chr1:235810372 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1467624 rs_774876336

2 SubmittersRCV000801026RCV005367570

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
CA1466101 rs_749282192

4 SubmittersRCV000822160RCV000994286

NM_000081.4(LYST):c.6216A>G (p.Val2072=) SNV
Germline
Chr1:235762757 Conflicting classifications of pathogenicity Condition: not provided
Chédiak-Higashi syndrome
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
CA1466420 rs_371248013

6 SubmittersRCV001573079RCV000878828RCV002264040

NM_000081.4(LYST):c.4983G>A (p.Leu1661=) SNV
Germline
Chr1:235781967 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications
CA423777612 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
CA1466806 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
CA1467204 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
CA1467349 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
CA1467578 rs_147433918

4 SubmittersRCV001397473RCV003955714RCV004027833

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
CA1466947 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
CA1465997 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
CA1465293 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
CA344944454 rs_1379717085

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
CA1466798 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
CA39597018 rs_778586545

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
CA1467372 rs_772560535

3 SubmittersRCV001037985RCV002553040

NM_000081.4(LYST):c.1724C>T (p.Ser575Leu) SNV
Germline
Chr1:235809094 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1467414 rs_776971122

2 SubmittersRCV001068612RCV005372544

NM_000081.4(LYST):c.4862+2T>A SNV
Germline
Chr1:235787198 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA344957299 rs_2528089182

2 SubmittersRCV001056070

NM_000081.4(LYST):c.11229A>G (p.Arg3743=) SNV
Germline
Chr1:235664022 Conflicting classifications of pathogenicity LYST-related disorder
Chédiak-Higashi syndrome
Criteria Provided
Conflicting Classifications
CA39754720 rs_368618083

3 SubmittersRCV003898087RCV001096201

NM_000081.4(LYST):c.10740G>A (p.Leu3580=) SNV
Germline
Chr1:235687009 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome Criteria Provided
Conflicting Classifications
CA1465295 rs_773942795

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
CA39595134 rs_912444962

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
CA39605025 rs_906201774

2 SubmittersRCV001098052

NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr) SNV
Germline
Chr1:235759366 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Condition: not provided
Autoinflammatory syndrome
not specified
Criteria Provided
Conflicting Classifications
CA1466363 rs_201513511

5 SubmittersRCV001096501RCV001532579RCV002264180RCV003987782

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
CA39621521 rs_979729264

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
CA1466791 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
CA1466931 rs_752123968

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
CA423775702 rs_1233751084

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
CA1465660 rs_374429343

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
CA1465933 rs_569497153

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
CA1466617 rs_768616413

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
CA1013587458 rs_1659440744

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
CA1467240 rs_180889778

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
CA1466894 rs_199768620

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
CA1466539 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
CA344960043 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
CA1465547 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
CA1467537 rs_375332299

2 SubmittersRCV001322084RCV004987074

NM_000081.4(LYST):c.7045C>T (p.Gln2349Ter) SNV
Unknown
Chr1:235757295 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
rs_2527783212

1 SubmittersRCV004576826

NM_000081.4(LYST):c.9838C>T (p.Arg3280Ter) SNV
Germline
Chr1:235712144 Pathogenic/Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA1465486 rs_201694319

3 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
CA1466249 rs_540634120

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
CA1466555 rs_200512692

2 SubmittersRCV001359286

NM_000081.4(LYST):c.1406T>A (p.Leu469Ter) SNV
Germline
Chr1:235809412 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344962478 rs_2527115755

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
CA344963536 rs_1673263416

3 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
CA1467655 rs_747965676

3 SubmittersRCV001406385RCV004690102

NM_000081.4(LYST):c.5612T>C (p.Ile1871Thr) SNV
Germline
Chr1:235774935 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Condition: not provided
Chédiak-Higashi syndrome
Criteria Provided
Conflicting Classifications
CA1466589 rs_559869925

3 SubmittersRCV002264324RCV001762682RCV001449179

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
CA1467573 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
CA1467385 rs_747022808

3 SubmittersRCV001783621

NM_000081.4(LYST):c.11002G>T (p.Glu3668Ter) SNV
Germline
Chr1:235677127 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA344921193 rs_1444318368

4 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
CA344923069 rs_1157079200

2 SubmittersRCV001783623

NM_000081.4(LYST):c.10468G>T (p.Gly3490Ter) SNV
Germline
Chr1:235697179 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344929087 rs_373529106

1 SubmittersRCV001783625

NM_000081.4(LYST):c.7645C>T (p.Gln2549Ter) SNV
Germline
Chr1:235751345 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344929841 rs_2527714206

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
CA344954476 rs_1236600542

2 SubmittersRCV002037676

NM_000081.4(LYST):c.8536-1G>A SNV
Germline
Chr1:235733907 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344920780 rs_1664595275

1 SubmittersRCV001941823

NM_000081.4(LYST):c.4978C>T (p.Gln1660Ter) SNV
Germline
Chr1:235781972 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344955951 rs_1669915673

1 SubmittersRCV001896870

NM_000081.4(LYST):c.6283C>T (p.Gln2095Ter) SNV
Germline
Chr1:235759570 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344943103 rs_1667380258

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
CA1467137 rs_144840340

2 SubmittersRCV001885450RCV003382655

NM_000081.4(LYST):c.9044+1G>A SNV
Germline
Chr1:235730846 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344949053 rs_2527528620

1 SubmittersRCV001986003

NM_000081.4(LYST):c.3574G>T (p.Glu1192Ter) SNV
Germline
Chr1:235803046 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344947511 rs_2527038050

1 SubmittersRCV002037789

NM_000081.4(LYST):c.5923-1G>A SNV
Germline
Chr1:235766278 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344948372 rs_2527888341

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
CA344951865 rs_2527973482

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
CA1466885 rs_764207947

2 SubmittersRCV001949555RCV002264439

NM_000081.4(LYST):c.10823C>G (p.Thr3608Ser) SNV
Germline
Chr1:235677597 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1465277 rs_766324119

2 SubmittersRCV002001801RCV005592358

NM_000081.4(LYST):c.6931C>T (p.Leu2311=) SNV
Germline
Chr1:235757409 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Autoinflammatory syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1466258 rs_764843145

3 SubmittersRCV002192964RCV002264455RCV004711756

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
CA1466508 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
CA423775718 rs_2527133215

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
CA1467113 rs_551224676

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
CA1465250 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
CA344950104 rs_1227624153

3 SubmittersRCV002244100

NM_000081.4(LYST):c.10095G>C (p.Lys3365Asn) SNV
Germline
Chr1:235709139 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344934704 rs_2527363381

1 SubmittersRCV002254225

NM_000081.4(LYST):c.7136T>C (p.Leu2379Pro) SNV
Germline
Chr1:235755571 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344934838 rs_2527761995

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
CA423776602 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
CA1466729 rs_750662250

2 SubmittersRCV002262043RCV003523122

NM_000081.4(LYST):c.6712C>T (p.Arg2238Ter) SNV
Germline
Chr1:235759141 Pathogenic/Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA344939762 rs_2527805640

2 SubmittersRCV002283891

NM_000081.4(LYST):c.1240T>C (p.Cys414Arg) SNV
Germline
Chr1:235809578 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1467492 rs_200557017

2 SubmittersRCV003071724RCV005592588

NM_000081.4(LYST):c.7786C>T (p.Arg2596Ter) SNV
Germline
Chr1:235746522 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA1466024 rs_775461913

1 SubmittersRCV002651429

NM_000081.4(LYST):c.8080C>T (p.Gln2694Ter) SNV
Germline
Chr1:235744050 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344924856 rs_1665672573

1 SubmittersRCV003112106

NM_000081.4(LYST):c.6676C>T (p.Arg2226Ter) SNV
Germline
Chr1:235759177 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344939963 rs_1179853540

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
CA344938885 rs_1667309466

2 SubmittersRCV002613244

NM_000081.4(LYST):c.433C>T (p.Arg145Ter) SNV
Germline
Chr1:235810385 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA1467629 rs_756867102

1 SubmittersRCV002605360

NM_000081.4(LYST):c.3059A>G (p.Glu1020Gly) SNV
Germline
Chr1:235806077 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1467150 rs_771400826

2 SubmittersRCV002662341RCV005370260

NM_000081.4(LYST):c.3100A>G (p.Met1034Val) SNV
Germline
Chr1:235806036 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1467141 rs_758307405

2 SubmittersRCV002639996RCV005592466

NM_000081.4(LYST):c.4863-1G>C SNV
Germline
Chr1:235782088 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA344956567 rs_2528043946

2 SubmittersRCV002646880

NM_000081.4(LYST):c.4549G>A (p.Asp1517Asn) SNV
Germline
Chr1:235788840 Conflicting classifications of pathogenicity Chédiak-Higashi syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA344958515 rs_1335874945

2 SubmittersRCV002781326RCV005375172

NM_000081.4(LYST):c.7168C>T (p.Gln2390Ter) SNV
Germline
Chr1:235755539 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344934512 rs_2527761127

1 SubmittersRCV002816605

NM_000081.4(LYST):c.7460+2T>A SNV
Germline
Chr1:235753042 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344931152 rs_2103314747

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
CA344968408 rs_2527299680

2 SubmittersRCV002875715

NM_000081.4(LYST):c.8358+1G>C SNV
Germline
Chr1:235741421 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344923087 rs_2527622353

1 SubmittersRCV002871444

NM_000081.4(LYST):c.6397C>T (p.Gln2133Ter) SNV
Germline
Chr1:235759456 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344942236 rs_2527811287

1 SubmittersRCV002899386

NM_000081.4(LYST):c.3770T>A (p.Leu1257Ter) SNV
Germline
Chr1:235801040 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344944361 rs_2527016426

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
CA1467419 rs_766785648

3 SubmittersRCV002926762RCV003479447RCV004642063

NM_000081.4(LYST):c.2437C>T (p.Arg813Ter) SNV
Germline
Chr1:235806699 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344957241 rs_2527086071

1 SubmittersRCV003003064

NM_000081.4(LYST):c.5023+1G>A SNV
Germline
Chr1:235781926 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344955782 rs_2528042451

1 SubmittersRCV003026912

NM_000081.4(LYST):c.2158C>T (p.Gln720Ter) SNV
Germline
Chr1:235808660 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344958959 rs_1316749927

1 SubmittersRCV003051777

NM_000081.4(LYST):c.9624C>A (p.Tyr3208Ter) SNV
Unknown
Chr1:235716715 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344940775 rs_745358946

1 SubmittersRCV003461814

NM_000081.4(LYST):c.4116+1G>A SNV
Unknown
Chr1:235793502 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344960608 rs_2526932418

1 SubmittersRCV003470003

NM_000081.4(LYST):c.6882-1G>T SNV
Germline
Chr1:235757459 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA344937629 rs_2527786424

2 SubmittersRCV003470004

NM_000081.4(LYST):c.4858C>T (p.Gln1620Ter) SNV
Unknown
Chr1:235787204 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344957313 rs_145973468

1 SubmittersRCV003469975

NM_000081.4(LYST):c.10813G>T (p.Glu3605Ter) SNV
Unknown
Chr1:235677607 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344922097 rs_2527159983

1 SubmittersRCV003469979

NM_000081.4(LYST):c.4006+2T>C SNV
Unknown
Chr1:235800318 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344941633 rs_2527008372

1 SubmittersRCV003461803

NM_000081.4(LYST):c.10643T>A (p.Leu3548Ter) SNV
Germline
Chr1:235693408 Pathogenic/Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA344926375 rs_2527258082

2 SubmittersRCV003469983

NM_000081.4(LYST):c.2063G>A (p.Trp688Ter) SNV
Unknown
Chr1:235808755 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344959495 rs_2527105833

1 SubmittersRCV003469984

NM_000081.4(LYST):c.5772G>A (p.Trp1924Ter) SNV
Unknown
Chr1:235773854 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344950329 rs_2527961081

1 SubmittersRCV003469989

NM_000081.4(LYST):c.8801+1G>A SNV
Unknown
Chr1:235733502 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344919808 rs_2527549383

1 SubmittersRCV003469990

NM_000081.4(LYST):c.9784+1G>T SNV
Germline
Chr1:235715200 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA344938913 rs_1345024890

3 SubmittersRCV003461805

NM_000081.4(LYST):c.9200G>A (p.Trp3067Ter) SNV
Unknown
Chr1:235724143 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344945802 rs_2527475132

1 SubmittersRCV003461806

NM_000081.4(LYST):c.6616C>T (p.Gln2206Ter) SNV
Unknown
Chr1:235759237 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344940328 rs_1667339912

1 SubmittersRCV003461807

NM_000081.4(LYST):c.8358+2T>G SNV
Unknown
Chr1:235741420 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344923080 rs_1157079200

1 SubmittersRCV003461809

NM_000081.4(LYST):c.4969G>T (p.Glu1657Ter) SNV
Unknown
Chr1:235781981 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344956012 rs_2528043049

1 SubmittersRCV003469993

NM_000081.4(LYST):c.8768G>A (p.Trp2923Ter) SNV
Unknown
Chr1:235733536 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344919985 rs_1346066490

1 SubmittersRCV003461810

NM_000081.4(LYST):c.7781-1G>T SNV
Unknown
Chr1:235746528 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344927979 rs_2527669033

1 SubmittersRCV003469996

NM_000081.4(LYST):c.6050T>G (p.Leu2017Ter) SNV
Unknown
Chr1:235766150 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344947232 rs_2527886589

1 SubmittersRCV003461812

NM_000081.4(LYST):c.7010T>A (p.Leu2337Ter) SNV
Unknown
Chr1:235757330 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344936203 rs_2527784533

1 SubmittersRCV003469997

NM_000081.4(LYST):c.10489C>T (p.Gln3497Ter) SNV
Unknown
Chr1:235697158 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344929018 rs_2527284830

1 SubmittersRCV003461813

NM_000081.4(LYST):c.3202C>T (p.Gln1068Ter) SNV
Germline
Chr1:235805934 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344952654 rs_2527072205

1 SubmittersRCV003486325

NM_000081.4(LYST):c.5519C>G (p.Ser1840Ter) SNV
Germline
Chr1:235775028 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344951661 rs_752402013

1 SubmittersRCV003522116

NM_000081.4(LYST):c.4900A>T (p.Lys1634Ter) SNV
Germline
Chr1:235782050 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344956406 rs_986454063

1 SubmittersRCV003522178

NM_000081.4(LYST):c.4434G>A (p.Trp1478Ter) SNV
Germline
Chr1:235791808 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344959458 rs_2526908392

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
CA344961141 rs_922968465

2 SubmittersRCV003522186

NM_000081.4(LYST):c.7461-1G>A SNV
Germline
Chr1:235752172 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344931076 rs_2527723147

1 SubmittersRCV003524968

NM_000081.4(LYST):c.5881C>T (p.Gln1961Ter) SNV
Germline
Chr1:235770201 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344949721 rs_1668533101

1 SubmittersRCV003524972

NM_000081.4(LYST):c.1361G>A (p.Trp454Ter) SNV
Germline
Chr1:235809457 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344962573 rs_2527116390

1 SubmittersRCV003523792

NM_000081.4(LYST):c.130C>T (p.Gln44Ter) SNV
Germline
Chr1:235830288 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA1467722 rs_756716492

1 SubmittersRCV003523867

NM_000081.4(LYST):c.5923-2A>G SNV
Germline
Chr1:235766279 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344948378 rs_2527888357

1 SubmittersRCV003524428

NM_000081.4(LYST):c.3713-2A>C SNV
Germline
Chr1:235801099 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344944881 rs_2527017466

1 SubmittersRCV003523755

NM_000081.4(LYST):c.1189A>T (p.Arg397Ter) SNV
Germline
Chr1:235809629 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA1467498 rs_538193441

1 SubmittersRCV003524516

NM_000081.4(LYST):c.1202T>G (p.Leu401Ter) SNV
Germline
Chr1:235809616 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344962938 rs_1281525479

1 SubmittersRCV003524578

NM_000081.4(LYST):c.1492A>T (p.Arg498Ter) SNV
Germline
Chr1:235809326 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344962279 rs_2527114523

1 SubmittersRCV003522858

NM_000081.4(LYST):c.10360G>T (p.Glu3454Ter) SNV
Germline
Chr1:235702761 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344931015 rs_2527322667

1 SubmittersRCV003522610

NM_000081.4(LYST):c.9239G>A (p.Trp3080Ter) SNV
Germline
Chr1:235724104 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344945487 rs_2527474663

1 SubmittersRCV003636314

NM_000081.4(LYST):c.9463C>T (p.Arg3155Ter) SNV
Germline
Chr1:235720758 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA39602932 rs_891787440

1 SubmittersRCV003636947

NM_000081.4(LYST):c.106G>T (p.Glu36Ter) SNV
Germline
Chr1:235830312 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344969042 rs_2527301436

1 SubmittersRCV003637117

NM_000081.4(LYST):c.192+2T>C SNV
Germline
Chr1:235830224 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344968405 rs_1157219727

1 SubmittersRCV003637269

NM_000081.4(LYST):c.5214+1G>C SNV
Germline
Chr1:235780864 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344955062 rs_1669798610

1 SubmittersRCV003637355

NM_000081.4(LYST):c.9612T>G (p.Tyr3204Ter) SNV
Germline
Chr1:235716727 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344940893 rs_2527417807

1 SubmittersRCV003637369

NM_000081.4(LYST):c.5785C>T (p.Gln1929Ter) SNV
Germline
Chr1:235770297 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344950174 rs_2527926022

1 SubmittersRCV003637686

NM_000081.4(LYST):c.9925+1G>T SNV
Germline
Chr1:235712056 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344936606 rs_2527380452

1 SubmittersRCV003638001

NM_000081.4(LYST):c.10027C>T (p.Gln3343Ter) SNV
Germline
Chr1:235709207 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344935272 rs_2527363889

1 SubmittersRCV003638057

NM_000081.4(LYST):c.10601C>A (p.Ser3534Ter) SNV
Germline
Chr1:235693450 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344926857 rs_2527258499

1 SubmittersRCV003635446

NM_000081.4(LYST):c.9925+2T>C SNV
Germline
Chr1:235712055 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344936593 rs_2527380441

1 SubmittersRCV003635489

NM_000081.4(LYST):c.9627+1G>A SNV
Germline
Chr1:235716711 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344940750 rs_2527417596

1 SubmittersRCV003635622

NM_000081.4(LYST):c.6254-1G>C SNV
Germline
Chr1:235759600 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344943405 rs_2527813203

1 SubmittersRCV003835945

NM_000081.4(LYST):c.6078C>G (p.Tyr2026Ter) SNV
Germline
Chr1:235766122 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA39619459 rs_80338660

1 SubmittersRCV003835218

NM_000081.4(LYST):c.10153G>T (p.Gly3385Ter) SNV
Germline
Chr1:235702968 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
CA344932506 rs_2527324515

1 SubmittersRCV003869888

NM_000081.4(LYST):c.4433G>A (p.Trp1478Ter) SNV
Germline
Chr1:235791809 Pathogenic/Likely pathogenic LYST-related disorder
Chédiak-Higashi syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA344959477 rs_2526908416

3 SubmittersRCV003901705RCV005015090

NM_000081.4(LYST):c.10681C>T (p.Gln3561Ter) SNV
Unknown
Chr1:235693370 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
rs_1041137098

1 SubmittersRCV004576818

NM_000081.4(LYST):c.484C>T (p.Gln162Ter) SNV
Unknown
Chr1:235810334 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
rs_1346059141

1 SubmittersRCV004576820

NM_000081.4(LYST):c.8613-2A>T SNV
Unknown
Chr1:235733693 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
rs_2527551269

1 SubmittersRCV004576823

NM_000081.4(LYST):c.4117-2A>G SNV
Unknown
Chr1:235792127 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
rs_2526914541

1 SubmittersRCV004576825

NM_000081.4(LYST):c.8443G>T (p.Glu2815Ter) SNV
Unknown
Chr1:235734575 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
rs_1479550470

1 SubmittersRCV004576827

NM_000081.4(LYST):c.1518T>G (p.Tyr506Ter) SNV
Unknown
Chr1:235809300 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter
rs_2527114176

1 SubmittersRCV004576829

NM_000081.4(LYST):c.3712+2T>C SNV
Germline
Chr1:235802906 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005017992

NM_000081.4(LYST):c.3655G>T (p.Glu1219Ter) SNV
Germline
Chr1:235802965 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005017997

NM_000081.4(LYST):c.265C>T (p.Gln89Ter) SNV
Germline
Chr1:235812989 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005010106

NM_000081.4(LYST):c.10941-2A>G SNV
Germline
Chr1:235677190 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005017904

NM_000081.4(LYST):c.8284A>T (p.Lys2762Ter) SNV
Germline
Chr1:235741496 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005017935

NM_000081.4(LYST):c.8156C>G (p.Ser2719Ter) SNV
Germline
Chr1:235741624 Pathogenic/Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005017938

NM_000081.4(LYST):c.7921C>T (p.Gln2641Ter) SNV
Germline
Chr1:235746387 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005017941

NM_000081.4(LYST):c.5922+1G>A SNV
Germline
Chr1:235770159 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005017962

NM_000081.4(LYST):c.4543+1G>A SNV
Germline
Chr1:235791698 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005017975

NM_000081.4(LYST):c.10801-91T>G SNV
Germline
Chr1:235677710 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005054981

NM_000081.4(LYST):c.421C>T (p.Arg141Ter) SNV
Germline
Chr1:235810397 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005072336

NM_000081.4(LYST):c.2089C>T (p.Gln697Ter) SNV
Germline
Chr1:235808729 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005108926

NM_000081.4(LYST):c.8221C>T (p.Arg2741Ter) SNV
Germline
Chr1:235741559 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005127139

NM_000081.4(LYST):c.10564+1G>T SNV
Germline
Chr1:235697082 Likely pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005116112

NM_000081.4(LYST):c.10406G>A (p.Trp3469Ter) SNV
Germline
Chr1:235697241 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005124492

NM_000081.4(LYST):c.6427C>T (p.Gln2143Ter) SNV
Germline
Chr1:235759426 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005133046

NM_000081.4(LYST):c.8973C>G (p.Tyr2991Ter) SNV
Germline
Chr1:235730918 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005131595

NM_000081.4(LYST):c.5866C>T (p.Gln1956Ter) SNV
Germline
Chr1:235770216 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005204938

NM_000081.4(LYST):c.9106+1G>T SNV
Germline
Chr1:235729595 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005198093

NM_000081.4(LYST):c.1303G>T (p.Glu435Ter) SNV
Germline
Chr1:235809515 Pathogenic Chédiak-Higashi syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005198094