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 SubmittersRCV000004013 RCV000055730 RCV000482098
NM_000081.4(LYST):c.148C>T (p.Arg50Ter)	SNV Germline	Chr1:235830270	Pathogenic/Likely pathogenic	CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE Chédiak-Higashi syndrome	Criteria Provided Multiple Submitters No Conflicts	CA116450	rs_80338643	5 SubmittersRCV000004017 RCV000055722
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	7 SubmittersRCV000004018 RCV000055729 RCV005003332
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 SubmittersRCV000004021 RCV000055738
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 SubmittersRCV000055718 RCV003421965
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.4361C>A (p.Ala1454Asp)	SNV Germline	Chr1:235791881	Likely pathogenic	Chédiak-Higashi syndrome	Criteria Provided Single Submitter	CA344854	rs_80338655	2 SubmittersRCV000055734
NM_000081.4(LYST):c.5061T>A (p.Tyr1687Ter)	SNV Germline	Chr1:235781018	Pathogenic	Chédiak-Higashi syndrome	Criteria Provided Multiple Submitters No Conflicts	CA344859	rs_80338658	3 SubmittersRCV000055736
NM_000081.4(LYST):c.8583G>A (p.Trp2861Ter)	SNV Germline	Chr1:235733859	Pathogenic	Chédiak-Higashi syndrome	Criteria Provided Single Submitter	CA344877	rs_80338664	2 SubmittersRCV000055743
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 Autoinflammatory syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA206778	rs_140934482	10 SubmittersRCV000193351 RCV000629218 RCV000994285 RCV001270573 RCV002262790 RCV002517949
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	12 SubmittersRCV000192717 RCV000329381 RCV001354479 RCV002262789 RCV003917758 RCV004020323 RCV004567394
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	9 SubmittersRCV000194897 RCV000876549 RCV002056993 RCV002262786 RCV002517948
NM_000081.4(LYST):c.1848C>T (p.Asn616=)	SNV Germline	Chr1:235808970	Conflicting classifications of pathogenicity	not specified Chédiak-Higashi syndrome Autoinflammatory syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA207329	rs_376259384	4 SubmittersRCV000193680 RCV002056992 RCV002262785 RCV006439757
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 Ovarian serous cystadenocarcinoma Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA205750	rs_777389303	9 SubmittersRCV000192732 RCV000380250 RCV002225498 RCV005892325 RCV005892324
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 SubmittersRCV000202612 RCV005230075
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	14 SubmittersRCV000224027 RCV000250486 RCV000546310 RCV002262830
NM_000081.4(LYST):c.7506A>G (p.Gln2502=)	SNV Germline	Chr1:235752126	Conflicting classifications of pathogenicity	not specified Chédiak-Higashi syndrome Condition: not provided Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA1466117	rs_140434436	10 SubmittersRCV000244233 RCV000342045 RCV001726072 RCV002262872
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	9 SubmittersRCV000247334 RCV000525039 RCV001081207 RCV002262861
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 SubmittersRCV000300771 RCV001381378
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	6 SubmittersRCV000347668 RCV000494169 RCV003387827
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 SubmittersRCV000339673 RCV000788548
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	6 SubmittersRCV000377523 RCV001706439
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	2 SubmittersRCV000293155 RCV002520469
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 SubmittersRCV000401621 RCV001706440
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	6 SubmittersRCV000298745 RCV001727673 RCV001699342
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 SubmittersRCV000270787 RCV003897672
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	5 SubmittersRCV000342419 RCV001795914 RCV001796734
NM_000081.4(LYST):c.1722A>G (p.Leu574=)	SNV Germline	Chr1:235809096	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome LYST-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA1467415	rs_762078094	4 SubmittersRCV000312995 RCV003897673 RCV005641581
NM_000081.4(LYST):c.196T>C (p.Leu66=)	SNV Germline	Chr1:235813058	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA1467686	rs_138393416	4 SubmittersRCV000374048 RCV005434776 RCV006441446
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.10477T>C (p.Phe3493Leu)	SNV Germline	Chr1:235697170	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome Inborn genetic diseases not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA1465358	rs_200511787	6 SubmittersRCV000262603 RCV002520467 RCV005238867 RCV006441441
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 LYST-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA1466391	rs_199857997	5 SubmittersRCV000317868 RCV003920201 RCV003417949
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 Condition: not provided Autoinflammatory syndrome LYST-related disorder Inborn genetic diseases Meniere disease	Criteria Provided Conflicting Classifications	CA1466767	rs_767687843	10 SubmittersRCV000309417 RCV000788549 RCV002262932 RCV003940114 RCV004021440 RCV004567847
NM_000081.4(LYST):c.4566A>C (p.Ala1522=)	SNV Germline	Chr1:235788823	Conflicting classifications of pathogenicity	LYST-related disorder Chédiak-Higashi syndrome	Criteria Provided Conflicting Classifications	CA1466801	rs_142344106	3 SubmittersRCV003940115 RCV000359454
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA1466869	rs_111722949	9 SubmittersRCV000324571 RCV002520470 RCV003940116 RCV004689710 RCV006263843
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	7 SubmittersRCV000319478 RCV001699289 RCV003987499
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 Inborn genetic diseases not specified LYST-related disorder	Criteria Provided Conflicting Classifications	CA1467144	rs_150636017	10 SubmittersRCV000301818 RCV000493084 RCV002262933 RCV002522120 RCV005238868 RCV004745327
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.2258G>A (p.Ser753Asn)	SNV Germline	Chr1:235808560	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1467336	rs_746829669	8 SubmittersRCV000396881 RCV002520473 RCV004691199
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 Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA1467681	rs_376821187	4 SubmittersRCV000317120 RCV003417950 RCV005891666
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 not specified Condition: not provided Autoinflammatory syndrome LYST-related disorder	Criteria Provided Conflicting Classifications	CA1467214	rs_112739986	7 SubmittersRCV000274201 RCV000500677 RCV001573880 RCV002262935 RCV003957550
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 SubmittersRCV000388371 RCV004984794
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	Chédiak-Higashi syndrome Condition: not provided LYST-related disorder	Criteria Provided Conflicting Classifications	CA1466982	rs_148542548	4 SubmittersRCV000374118 RCV006441443 RCV003957549
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 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1467226	rs_146335682	5 SubmittersRCV000333873 RCV003233545 RCV002522121
NM_000081.4(LYST):c.1996A>G (p.Ser666Gly)	SNV Germline	Chr1:235808822	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome Inborn genetic diseases Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA1467366	rs_140284566	5 SubmittersRCV000338804 RCV005652355 RCV002262936
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 SubmittersRCV000277853 RCV000874249 RCV002520474
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 SubmittersRCV000490083 RCV001078906 RCV002526027 RCV003960138 RCV004586738
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 Autoinflammatory syndrome LYST-related disorder	Criteria Provided Conflicting Classifications	CA1465962	rs_113209379	8 SubmittersRCV000499765 RCV001096400 RCV001573797 RCV002263707 RCV003403167
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 SubmittersRCV000502456 RCV001309227 RCV003419863
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 SubmittersRCV000541039 RCV004701602
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	8 SubmittersRCV000540467 RCV000606910 RCV001079296 RCV002263731 RCV003935392
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 SubmittersRCV000598280 RCV001860015
NM_015295.3(SMCHD1):c.424+1G>A	SNV Germline	Chr18:2667032	Pathogenic/Likely pathogenic	Condition: not provided Chédiak-Higashi syndrome Cervical cancer	Criteria Provided Multiple Submitters No Conflicts	CA401688349	rs_1555625396	3 SubmittersRCV000596447 RCV004813121 RCV005898655
NM_000081.4(LYST):c.9552G>T (p.Leu3184Phe)	SNV Germline	Chr1:235720669	Conflicting classifications of pathogenicity	Condition: not provided Chédiak-Higashi syndrome Clear cell carcinoma of kidney not specified Melanoma	Criteria Provided Conflicting Classifications	CA1465575	rs_556200563	6 SubmittersRCV000592250 RCV000816912 RCV005898717 RCV005435048 RCV005898718
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	8 SubmittersRCV000625112 RCV001701410 RCV001726276 RCV002263839
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	6 SubmittersRCV000625392 RCV001700276 RCV003222065
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	7 SubmittersRCV000629242 RCV001568813 RCV003403443 RCV003917998
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 SubmittersRCV000629223 RCV001027832 RCV001821769 RCV002263846 RCV003928044
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile)	SNV Germline	Chr1:235731173	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome Condition: not provided Autoinflammatory syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1465753	rs_2753327	10 SubmittersRCV000629187 RCV000658240 RCV002263841 RCV002528824
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 Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA1467171	rs_150953050	9 SubmittersRCV000629211 RCV001508959 RCV002263845 RCV003994052 RCV005900106
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 not specified	Criteria Provided Conflicting Classifications	CA1466790	rs_142983846	6 SubmittersRCV000629234 RCV003965313 RCV004711242 RCV006265135
NM_000081.4(LYST):c.143A>G (p.His48Arg)	SNV Germline	Chr1:235830275	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1467721	rs_200132460	8 SubmittersRCV000629222 RCV001311684
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	4 SubmittersRCV000629241 RCV001311683
NM_000081.4(LYST):c.2443C>T (p.His815Tyr)	SNV Germline	Chr1:235806693	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1467275	rs_141764855	4 SubmittersRCV000629217 RCV004025356 RCV006459693
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 SubmittersRCV000629213 RCV004722991
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 SubmittersRCV000681453 RCV003480760
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	Chédiak-Higashi syndrome Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA1466007	rs_368500877	7 SubmittersRCV000702332 RCV000728210 RCV002536355 RCV003230577
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	CA1467429	rs_201106245	5 SubmittersRCV000693852 RCV004702334 RCV004745554
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 SubmittersRCV000760333 RCV001855924
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser)	SNV Germline	Chr1:235802937	Conflicting classifications of pathogenicity	Condition: not provided Chédiak-Higashi syndrome Autoinflammatory syndrome not specified Inborn genetic diseases LYST-related disorder	Criteria Provided Conflicting Classifications	CA1467019	rs_145553827	9 SubmittersRCV000788254 RCV001080279 RCV002263976 RCV002509536 RCV002535771 RCV003947980
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	CA1465521	rs_751859873	3 SubmittersRCV000788253 RCV002535770 RCV004526770
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	6 SubmittersRCV000822779 RCV001585763 RCV002535959 RCV005240624
NM_000081.4(LYST):c.446T>C (p.Ile149Thr)	SNV Germline	Chr1:235810372	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1467624	rs_774876336	3 SubmittersRCV000801026 RCV005367570 RCV006278107
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 SubmittersRCV000822160 RCV000994286
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 not specified	Criteria Provided Conflicting Classifications	CA1466420	rs_371248013	7 SubmittersRCV000878828 RCV001573079 RCV002264040 RCV006440296
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 SubmittersRCV000871142 RCV001702738 RCV003396521
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 SubmittersRCV001408626 RCV004711351
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	5 SubmittersRCV000875261 RCV002539194 RCV004726716
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 SubmittersRCV001397473 RCV003955714 RCV004027833
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	6 SubmittersRCV000877201 RCV001796297 RCV004586969
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 SubmittersRCV000994287 RCV001096608
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 SubmittersRCV001037985 RCV002553040
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 SubmittersRCV001068612 RCV005372544
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	Chédiak-Higashi syndrome LYST-related disorder	Criteria Provided Conflicting Classifications	CA39754720	rs_368618083	3 SubmittersRCV001096201 RCV003898087
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	6 SubmittersRCV001096501 RCV001532579 RCV002264180 RCV003987782
NM_000081.4(LYST):c.5583T>C (p.Ile1861=)	SNV Germline	Chr1:235774964	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA39621521	rs_979729264	4 SubmittersRCV001100027 RCV004800694 RCV006446022
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 SubmittersRCV001096607 RCV002264181
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 SubmittersRCV001098339 RCV003918672
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 SubmittersRCV001216244 RCV003994236 RCV004033991
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 SubmittersRCV001209841 RCV004986948
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 SubmittersRCV001216285 RCV002264225
NM_000081.4(LYST):c.4288C>T (p.Arg1430Ter)	SNV Germline	Chr1:235791954	Pathogenic	Abnormal bleeding Thrombocytopenia Chédiak-Higashi syndrome	Criteria Provided Single Submitter	CA344960043	rs_1468055437	2 SubmittersRCV001270503 RCV003770411
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 SubmittersRCV001319842 RCV001644984
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 SubmittersRCV001322084 RCV004987074
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.9338A>G (p.Asn3113Ser)	SNV Germline	Chr1:235720883	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1465604	rs_762146710	3 SubmittersRCV001350380 RCV006377105
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 SubmittersRCV001349250 RCV004036578
NM_000081.4(LYST):c.5674A>G (p.Met1892Val)	SNV Germline	Chr1:235773952	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome Condition: not provided Clear cell carcinoma of kidney	Criteria Provided Conflicting Classifications	CA1466555	rs_200512692	4 SubmittersRCV001359286 RCV006279630 RCV005911246
NM_000081.4(LYST):c.2756C>T (p.Ser919Leu)	SNV Germline	Chr1:235806380	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1467218	rs_369772005	3 SubmittersRCV001372661 RCV003994285 RCV005652656
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 SubmittersRCV001406385 RCV004690102
NM_000081.4(LYST):c.5612T>C (p.Ile1871Thr)	SNV Germline	Chr1:235774935	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome Autoinflammatory syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1466589	rs_559869925	3 SubmittersRCV001449179 RCV002264324 RCV001762682
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 SubmittersRCV001428367 RCV002264313 RCV002555149
NM_000081.4(LYST):c.1897A>T (p.Lys633Ter)	SNV Germline	Chr1:235808921	Pathogenic	Chédiak-Higashi syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1467385	rs_747022808	4 SubmittersRCV001783621 RCV006251050
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 SubmittersRCV001885450 RCV003382655
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 SubmittersRCV001949555 RCV002264439
NM_000081.4(LYST):c.4690G>A (p.Val1564Met)	SNV Germline	Chr1:235787372	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1466770	rs_775844553	2 SubmittersRCV002023905 RCV005654945
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 SubmittersRCV002001801 RCV005592358
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 SubmittersRCV002192964 RCV002264455 RCV004711756
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 SubmittersRCV002140927 RCV002264474
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 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA1467113	rs_551224676	3 SubmittersRCV002093602 RCV004982899 RCV003987969
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 SubmittersRCV002181740 RCV002264478
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 SubmittersRCV002262042 RCV003523121 RCV003933718
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 SubmittersRCV002262043 RCV003523122
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 SubmittersRCV003071724 RCV005592588
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 SubmittersRCV002662341 RCV005370260
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 SubmittersRCV002639996 RCV005592466
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 SubmittersRCV002781326 RCV005375172
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 SubmittersRCV002926762 RCV003479447 RCV004642063
NM_000081.4(LYST):c.192+7T>C	SNV Germline	Chr1:235830219	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1467711	rs_763933686	2 SubmittersRCV002953205 RCV005642873
NM_000081.4(LYST):c.1988T>C (p.Leu663Pro)	SNV Germline	Chr1:235808830	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA344961202	rs_1349597556	2 SubmittersRCV003007321 RCV005662550
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.6475G>T (p.Gly2159Cys)	SNV Germline	Chr1:235759378	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1466368	rs_779154700	2 SubmittersRCV003134120 RCV006363409
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.2316C>G (p.Asp772Glu)	SNV Germline	Chr1:235808502	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA344958590	rs_16832868	2 SubmittersRCV003635720 RCV005662709
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 SubmittersRCV003901705 RCV005015090
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 Germline	Chr1:235810334	Pathogenic/Likely pathogenic	Chédiak-Higashi syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1346059141	2 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.8042T>C (p.Phe2681Ser)	SNV Germline	Chr1:235744088	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005068016 RCV005657459
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
NM_000081.4(LYST):c.10066C>T (p.Gln3356Ter)	SNV Germline	Chr1:235709168	Pathogenic	Chédiak-Higashi syndrome	Criteria Provided Single Submitter			2 SubmittersRCV005628218
NM_000081.4(LYST):c.7096C>T (p.Gln2366Ter)	SNV Germline	Chr1:235755611	Likely pathogenic	Chédiak-Higashi syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005636520
NM_000081.4(LYST):c.7628-1G>A	SNV Germline	Chr1:235751363	Likely pathogenic	Thyroid cancer, nonmedullary, 1 Chédiak-Higashi syndrome	Criteria Provided Single Submitter			2 SubmittersRCV006075967 RCV006632493
NM_000081.4(LYST):c.8425G>T (p.Glu2809Ter)	SNV Germline	Chr1:235734593	Pathogenic	Condition: not provided Chédiak-Higashi syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV006278639 RCV006475456
NM_000081.4(LYST):c.5460+1G>A	SNV Germline	Chr1:235777062	Likely pathogenic	Chédiak-Higashi syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006510610
NM_000081.4(LYST):c.7501C>T (p.Gln2501Ter)	SNV Germline	Chr1:235752131	Pathogenic	Chédiak-Higashi syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006509898
NM_000081.4(LYST):c.8201G>A (p.Trp2734Ter)	SNV Germline	Chr1:235741579	Pathogenic	Chédiak-Higashi syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006520543
NM_000081.4(LYST):c.3149C>A (p.Ser1050Ter)	SNV Germline	Chr1:235805987	Pathogenic	Chédiak-Higashi syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006515176
NM_000081.4(LYST):c.9236G>A (p.Trp3079Ter)	SNV Germline	Chr1:235724107	Pathogenic	Chédiak-Higashi syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006525360

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 SubmittersRCV000004013 RCV000055730 RCV000482098

NM_000081.4(LYST):c.148C>T (p.Arg50Ter)

SNV
Germline

Chr1:235830270

Pathogenic/Likely pathogenic

CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE
Chédiak-Higashi syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA116450

rs_80338643

5 SubmittersRCV000004017 RCV000055722

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

7 SubmittersRCV000004018 RCV000055729 RCV005003332

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 SubmittersRCV000004021 RCV000055738

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 SubmittersRCV000055718 RCV003421965

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.4361C>A (p.Ala1454Asp)

SNV
Germline

Chr1:235791881

Likely pathogenic

Chédiak-Higashi syndrome

Criteria Provided
Single Submitter

CA344854

rs_80338655

2 SubmittersRCV000055734

NM_000081.4(LYST):c.5061T>A (p.Tyr1687Ter)

SNV
Germline

Chr1:235781018

Pathogenic

Chédiak-Higashi syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344859

rs_80338658

3 SubmittersRCV000055736

NM_000081.4(LYST):c.8583G>A (p.Trp2861Ter)

SNV
Germline

Chr1:235733859

Pathogenic

Chédiak-Higashi syndrome

Criteria Provided
Single Submitter

CA344877

rs_80338664

2 SubmittersRCV000055743

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
Autoinflammatory syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA206778

rs_140934482

10 SubmittersRCV000193351 RCV000629218 RCV000994285 RCV001270573 RCV002262790 RCV002517949

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

12 SubmittersRCV000192717 RCV000329381 RCV001354479 RCV002262789 RCV003917758 RCV004020323 RCV004567394

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

9 SubmittersRCV000194897 RCV000876549 RCV002056993 RCV002262786 RCV002517948

NM_000081.4(LYST):c.1848C>T (p.Asn616=)

SNV
Germline

Chr1:235808970

Conflicting classifications of pathogenicity

not specified
Chédiak-Higashi syndrome
Autoinflammatory syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA207329

rs_376259384

4 SubmittersRCV000193680 RCV002056992 RCV002262785 RCV006439757

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
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA205750

rs_777389303

9 SubmittersRCV000192732 RCV000380250 RCV002225498 RCV005892325 RCV005892324

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 SubmittersRCV000202612 RCV005230075

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

14 SubmittersRCV000224027 RCV000250486 RCV000546310 RCV002262830

NM_000081.4(LYST):c.7506A>G (p.Gln2502=)

SNV
Germline

Chr1:235752126

Conflicting classifications of pathogenicity

not specified
Chédiak-Higashi syndrome
Condition: not provided
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA1466117

rs_140434436

10 SubmittersRCV000244233 RCV000342045 RCV001726072 RCV002262872

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

9 SubmittersRCV000247334 RCV000525039 RCV001081207 RCV002262861

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 SubmittersRCV000300771 RCV001381378

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

6 SubmittersRCV000347668 RCV000494169 RCV003387827

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 SubmittersRCV000339673 RCV000788548

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

6 SubmittersRCV000377523 RCV001706439

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

2 SubmittersRCV000293155 RCV002520469

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 SubmittersRCV000401621 RCV001706440

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

6 SubmittersRCV000298745 RCV001727673 RCV001699342

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 SubmittersRCV000270787 RCV003897672

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

5 SubmittersRCV000342419 RCV001795914 RCV001796734

NM_000081.4(LYST):c.1722A>G (p.Leu574=)

SNV
Germline

Chr1:235809096

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
LYST-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1467415

rs_762078094

4 SubmittersRCV000312995 RCV003897673 RCV005641581

NM_000081.4(LYST):c.196T>C (p.Leu66=)

SNV
Germline

Chr1:235813058

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1467686

rs_138393416

4 SubmittersRCV000374048 RCV005434776 RCV006441446

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.10477T>C (p.Phe3493Leu)

SNV
Germline

Chr1:235697170

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
Inborn genetic diseases
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1465358

rs_200511787

6 SubmittersRCV000262603 RCV002520467 RCV005238867 RCV006441441

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
LYST-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1466391

rs_199857997

5 SubmittersRCV000317868 RCV003920201 RCV003417949

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
Condition: not provided
Autoinflammatory syndrome
LYST-related disorder
Inborn genetic diseases
Meniere disease

Criteria Provided
Conflicting Classifications

CA1466767

rs_767687843

10 SubmittersRCV000309417 RCV000788549 RCV002262932 RCV003940114 RCV004021440 RCV004567847

NM_000081.4(LYST):c.4566A>C (p.Ala1522=)

SNV
Germline

Chr1:235788823

Conflicting classifications of pathogenicity

LYST-related disorder
Chédiak-Higashi syndrome

Criteria Provided
Conflicting Classifications

CA1466801

rs_142344106

3 SubmittersRCV003940115 RCV000359454

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1466869

rs_111722949

9 SubmittersRCV000324571 RCV002520470 RCV003940116 RCV004689710 RCV006263843

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

7 SubmittersRCV000319478 RCV001699289 RCV003987499

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
Inborn genetic diseases
not specified
LYST-related disorder

Criteria Provided
Conflicting Classifications

CA1467144

rs_150636017

10 SubmittersRCV000301818 RCV000493084 RCV002262933 RCV002522120 RCV005238868 RCV004745327

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.2258G>A (p.Ser753Asn)

SNV
Germline

Chr1:235808560

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1467336

rs_746829669

8 SubmittersRCV000396881 RCV002520473 RCV004691199

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
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA1467681

rs_376821187

4 SubmittersRCV000317120 RCV003417950 RCV005891666

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
not specified
Condition: not provided
Autoinflammatory syndrome
LYST-related disorder

Criteria Provided
Conflicting Classifications

CA1467214

rs_112739986

7 SubmittersRCV000274201 RCV000500677 RCV001573880 RCV002262935 RCV003957550

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 SubmittersRCV000388371 RCV004984794

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

Chédiak-Higashi syndrome
Condition: not provided
LYST-related disorder

Criteria Provided
Conflicting Classifications

CA1466982

rs_148542548

4 SubmittersRCV000374118 RCV006441443 RCV003957549

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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1467226

rs_146335682

5 SubmittersRCV000333873 RCV003233545 RCV002522121

NM_000081.4(LYST):c.1996A>G (p.Ser666Gly)

SNV
Germline

Chr1:235808822

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
Inborn genetic diseases
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA1467366

rs_140284566

5 SubmittersRCV000338804 RCV005652355 RCV002262936

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 SubmittersRCV000277853 RCV000874249 RCV002520474

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 SubmittersRCV000490083 RCV001078906 RCV002526027 RCV003960138 RCV004586738

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
Autoinflammatory syndrome
LYST-related disorder

Criteria Provided
Conflicting Classifications

CA1465962

rs_113209379

8 SubmittersRCV000499765 RCV001096400 RCV001573797 RCV002263707 RCV003403167

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 SubmittersRCV000502456 RCV001309227 RCV003419863

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 SubmittersRCV000541039 RCV004701602

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

8 SubmittersRCV000540467 RCV000606910 RCV001079296 RCV002263731 RCV003935392

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 SubmittersRCV000598280 RCV001860015

NM_015295.3(SMCHD1):c.424+1G>A

SNV
Germline

Chr18:2667032

Pathogenic/Likely pathogenic

Condition: not provided
Chédiak-Higashi syndrome
Cervical cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA401688349

rs_1555625396

3 SubmittersRCV000596447 RCV004813121 RCV005898655

NM_000081.4(LYST):c.9552G>T (p.Leu3184Phe)

SNV
Germline

Chr1:235720669

Conflicting classifications of pathogenicity

Condition: not provided
Chédiak-Higashi syndrome
Clear cell carcinoma of kidney
not specified
Melanoma

Criteria Provided
Conflicting Classifications

CA1465575

rs_556200563

6 SubmittersRCV000592250 RCV000816912 RCV005898717 RCV005435048 RCV005898718

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

8 SubmittersRCV000625112 RCV001701410 RCV001726276 RCV002263839

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

6 SubmittersRCV000625392 RCV001700276 RCV003222065

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

7 SubmittersRCV000629242 RCV001568813 RCV003403443 RCV003917998

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 SubmittersRCV000629223 RCV001027832 RCV001821769 RCV002263846 RCV003928044

NM_000081.4(LYST):c.8806G>A (p.Val2936Ile)

SNV
Germline

Chr1:235731173

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
Condition: not provided
Autoinflammatory syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1465753

rs_2753327

10 SubmittersRCV000629187 RCV000658240 RCV002263841 RCV002528824

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
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA1467171

rs_150953050

9 SubmittersRCV000629211 RCV001508959 RCV002263845 RCV003994052 RCV005900106

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
not specified

Criteria Provided
Conflicting Classifications

CA1466790

rs_142983846

6 SubmittersRCV000629234 RCV003965313 RCV004711242 RCV006265135

NM_000081.4(LYST):c.143A>G (p.His48Arg)

SNV
Germline

Chr1:235830275

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1467721

rs_200132460

8 SubmittersRCV000629222 RCV001311684

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

4 SubmittersRCV000629241 RCV001311683

NM_000081.4(LYST):c.2443C>T (p.His815Tyr)

SNV
Germline

Chr1:235806693

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1467275

rs_141764855

4 SubmittersRCV000629217 RCV004025356 RCV006459693

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 SubmittersRCV000629213 RCV004722991

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 SubmittersRCV000681453 RCV003480760

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

Chédiak-Higashi syndrome
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA1466007

rs_368500877

7 SubmittersRCV000702332 RCV000728210 RCV002536355 RCV003230577

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

CA1467429

rs_201106245

5 SubmittersRCV000693852 RCV004702334 RCV004745554

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 SubmittersRCV000760333 RCV001855924

NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser)

SNV
Germline

Chr1:235802937

Conflicting classifications of pathogenicity

Condition: not provided
Chédiak-Higashi syndrome
Autoinflammatory syndrome
not specified
Inborn genetic diseases
LYST-related disorder

Criteria Provided
Conflicting Classifications

CA1467019

rs_145553827

9 SubmittersRCV000788254 RCV001080279 RCV002263976 RCV002509536 RCV002535771 RCV003947980

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

CA1465521

rs_751859873

3 SubmittersRCV000788253 RCV002535770 RCV004526770

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

6 SubmittersRCV000822779 RCV001585763 RCV002535959 RCV005240624

NM_000081.4(LYST):c.446T>C (p.Ile149Thr)

SNV
Germline

Chr1:235810372

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1467624

rs_774876336

3 SubmittersRCV000801026 RCV005367570 RCV006278107

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 SubmittersRCV000822160 RCV000994286

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
not specified

Criteria Provided
Conflicting Classifications

CA1466420

rs_371248013

7 SubmittersRCV000878828 RCV001573079 RCV002264040 RCV006440296

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 SubmittersRCV000871142 RCV001702738 RCV003396521

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 SubmittersRCV001408626 RCV004711351

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

5 SubmittersRCV000875261 RCV002539194 RCV004726716

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 SubmittersRCV001397473 RCV003955714 RCV004027833

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

6 SubmittersRCV000877201 RCV001796297 RCV004586969

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 SubmittersRCV000994287 RCV001096608

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 SubmittersRCV001037985 RCV002553040

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 SubmittersRCV001068612 RCV005372544

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

Chédiak-Higashi syndrome
LYST-related disorder

Criteria Provided
Conflicting Classifications

CA39754720

rs_368618083

3 SubmittersRCV001096201 RCV003898087

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

6 SubmittersRCV001096501 RCV001532579 RCV002264180 RCV003987782

NM_000081.4(LYST):c.5583T>C (p.Ile1861=)

SNV
Germline

Chr1:235774964

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA39621521

rs_979729264

4 SubmittersRCV001100027 RCV004800694 RCV006446022

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 SubmittersRCV001096607 RCV002264181

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 SubmittersRCV001098339 RCV003918672

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 SubmittersRCV001216244 RCV003994236 RCV004033991

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 SubmittersRCV001209841 RCV004986948

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 SubmittersRCV001216285 RCV002264225

NM_000081.4(LYST):c.4288C>T (p.Arg1430Ter)

SNV
Germline

Chr1:235791954

Pathogenic

Abnormal bleeding
Thrombocytopenia
Chédiak-Higashi syndrome

Criteria Provided
Single Submitter

CA344960043

rs_1468055437

2 SubmittersRCV001270503 RCV003770411

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 SubmittersRCV001319842 RCV001644984

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 SubmittersRCV001322084 RCV004987074

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.9338A>G (p.Asn3113Ser)

SNV
Germline

Chr1:235720883

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1465604

rs_762146710

3 SubmittersRCV001350380 RCV006377105

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 SubmittersRCV001349250 RCV004036578

NM_000081.4(LYST):c.5674A>G (p.Met1892Val)

SNV
Germline

Chr1:235773952

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
Condition: not provided
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA1466555

rs_200512692

4 SubmittersRCV001359286 RCV006279630 RCV005911246

NM_000081.4(LYST):c.2756C>T (p.Ser919Leu)

SNV
Germline

Chr1:235806380

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1467218

rs_369772005

3 SubmittersRCV001372661 RCV003994285 RCV005652656

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 SubmittersRCV001406385 RCV004690102

NM_000081.4(LYST):c.5612T>C (p.Ile1871Thr)

SNV
Germline

Chr1:235774935

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
Autoinflammatory syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1466589

rs_559869925

3 SubmittersRCV001449179 RCV002264324 RCV001762682

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 SubmittersRCV001428367 RCV002264313 RCV002555149

NM_000081.4(LYST):c.1897A>T (p.Lys633Ter)

SNV
Germline

Chr1:235808921

Pathogenic

Chédiak-Higashi syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1467385

rs_747022808

4 SubmittersRCV001783621 RCV006251050

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 SubmittersRCV001885450 RCV003382655

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 SubmittersRCV001949555 RCV002264439

NM_000081.4(LYST):c.4690G>A (p.Val1564Met)

SNV
Germline

Chr1:235787372

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1466770

rs_775844553

2 SubmittersRCV002023905 RCV005654945

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 SubmittersRCV002001801 RCV005592358

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 SubmittersRCV002192964 RCV002264455 RCV004711756

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 SubmittersRCV002140927 RCV002264474

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
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA1467113

rs_551224676

3 SubmittersRCV002093602 RCV004982899 RCV003987969

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 SubmittersRCV002181740 RCV002264478

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 SubmittersRCV002262042 RCV003523121 RCV003933718

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 SubmittersRCV002262043 RCV003523122

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 SubmittersRCV003071724 RCV005592588

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 SubmittersRCV002662341 RCV005370260

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 SubmittersRCV002639996 RCV005592466

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 SubmittersRCV002781326 RCV005375172

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 SubmittersRCV002926762 RCV003479447 RCV004642063

NM_000081.4(LYST):c.192+7T>C

SNV
Germline

Chr1:235830219

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1467711

rs_763933686

2 SubmittersRCV002953205 RCV005642873

NM_000081.4(LYST):c.1988T>C (p.Leu663Pro)

SNV
Germline

Chr1:235808830

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA344961202

rs_1349597556

2 SubmittersRCV003007321 RCV005662550

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.6475G>T (p.Gly2159Cys)

SNV
Germline

Chr1:235759378

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1466368

rs_779154700

2 SubmittersRCV003134120 RCV006363409

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.2316C>G (p.Asp772Glu)

SNV
Germline

Chr1:235808502

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA344958590

rs_16832868

2 SubmittersRCV003635720 RCV005662709

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 SubmittersRCV003901705 RCV005015090

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
Germline

Chr1:235810334

Pathogenic/Likely pathogenic

Chédiak-Higashi syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1346059141

2 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.8042T>C (p.Phe2681Ser)

SNV
Germline

Chr1:235744088

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005068016 RCV005657459

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

NM_000081.4(LYST):c.10066C>T (p.Gln3356Ter)

SNV
Germline

Chr1:235709168

Pathogenic

Chédiak-Higashi syndrome

Criteria Provided
Single Submitter

2 SubmittersRCV005628218

NM_000081.4(LYST):c.7096C>T (p.Gln2366Ter)

SNV
Germline

Chr1:235755611

Likely pathogenic

Chédiak-Higashi syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005636520

NM_000081.4(LYST):c.7628-1G>A

SNV
Germline

Chr1:235751363

Likely pathogenic

Thyroid cancer, nonmedullary, 1
Chédiak-Higashi syndrome

Criteria Provided
Single Submitter

2 SubmittersRCV006075967 RCV006632493

NM_000081.4(LYST):c.8425G>T (p.Glu2809Ter)

SNV
Germline

Chr1:235734593

Pathogenic

Condition: not provided
Chédiak-Higashi syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006278639 RCV006475456

NM_000081.4(LYST):c.5460+1G>A

SNV
Germline

Chr1:235777062

Likely pathogenic

Chédiak-Higashi syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006510610

NM_000081.4(LYST):c.7501C>T (p.Gln2501Ter)

SNV
Germline

Chr1:235752131

Pathogenic

Chédiak-Higashi syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006509898

NM_000081.4(LYST):c.8201G>A (p.Trp2734Ter)

SNV
Germline

Chr1:235741579

Pathogenic

Chédiak-Higashi syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006520543

NM_000081.4(LYST):c.3149C>A (p.Ser1050Ter)

SNV
Germline

Chr1:235805987

Pathogenic

Chédiak-Higashi syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006515176

NM_000081.4(LYST):c.9236G>A (p.Trp3079Ter)

SNV
Germline

Chr1:235724107

Pathogenic

Chédiak-Higashi syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006525360