Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000377.3(WAS):c.257G>T (p.Arg86Leu)	SNV Germline	ChrX:48684407	Pathogenic	Wiskott-Aldrich syndrome	No Assertion Criteria Provided	CA341001	rs_132630268	1 SubmittersRCV000011863
NM_000377.3(WAS):c.257G>A (p.Arg86His)	SNV Germline	ChrX:48684407	Pathogenic	Wiskott-Aldrich syndrome Condition: not provided Wiskott-Aldrich syndrome Thrombocytopenia 1 X-linked severe congenital neutropenia	Criteria Provided Multiple Submitters No Conflicts	CA341003	rs_132630268	9 SubmittersRCV000011864 RCV000414284 RCV000633305
NM_000377.3(WAS):c.167C>T (p.Ala56Val)	SNV Germline	ChrX:48684317	Pathogenic	Thrombocytopenia 1 Condition: not provided Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome Thrombocytopenia 1 X-linked severe congenital neutropenia	Criteria Provided Multiple Submitters No Conflicts	CA255723	rs_132630269	5 SubmittersRCV000011865 RCV001563489 RCV002243636 RCV003764557
NM_000377.3(WAS):c.100C>T (p.Arg34Ter)	SNV Germline	ChrX:48683953	Pathogenic	Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1	Criteria Provided Single Submitter	CA341005	rs_132630271	2 SubmittersRCV000011868 RCV003764558
NM_000377.3(WAS):c.1A>T (p.Met1Leu)	SNV Somatic	ChrX:48683854	Pathogenic	Wiskott-Aldrich syndrome	No Assertion Criteria Provided	CA341008	rs_587776742	1 SubmittersRCV000011869
NM_000377.3(WAS):c.244T>C (p.Ser82Pro)	SNV Germline	ChrX:48684394	Likely pathogenic	WISKOTT-ALDRICH SYNDROME, ATTENUATED Condition: not provided	Criteria Provided Single Submitter	CA121359	rs_132630272	2 SubmittersRCV000011871 RCV001509116
NM_000377.3(WAS):c.134C>T (p.Thr45Met)	SNV Germline	ChrX:48684284	Pathogenic	Thrombocytopenia 1 Thrombocytopenia Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1 Condition: not provided Wiskott-Aldrich syndrome WAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA255728	rs_132630273	10 SubmittersRCV000011872 RCV000851684 RCV001037597 RCV001172206 RCV004760326 RCV004748516
NM_000377.3(WAS):c.809T>C (p.Leu270Pro)	SNV Germline	ChrX:48688331	Pathogenic/Likely pathogenic	X-linked severe congenital neutropenia Condition: not provided Wiskott-Aldrich syndrome Thrombocytopenia 1 X-linked severe congenital neutropenia	Criteria Provided Multiple Submitters No Conflicts	CA280988	rs_132630274	3 SubmittersRCV000011874 RCV001291553 RCV001851800
NM_000377.3(WAS):c.560-1G>A	SNV Germline	ChrX:48686780	Pathogenic	Wiskott-Aldrich syndrome	No Assertion Criteria Provided	CA412869779	rs_1602178087	1 SubmittersRCV000011880
NM_000377.3(WAS):c.559+2T>G	SNV Germline	ChrX:48686136	Pathogenic	Wiskott-Aldrich syndrome	No Assertion Criteria Provided	CA412869598	rs_1602177733	1 SubmittersRCV000011881
NM_000377.3(WAS):c.814T>C (p.Ser272Pro)	SNV Germline	ChrX:48688336	Likely pathogenic	X-linked severe congenital neutropenia Wiskott-Aldrich syndrome Thrombocytopenia 1 X-linked severe congenital neutropenia	Criteria Provided Single Submitter	CA281101	rs_387906716	2 SubmittersRCV000022858 RCV003764631
NM_000377.3(WAS):c.881T>C (p.Ile294Thr)	SNV Germline	ChrX:48688403	Pathogenic/Likely pathogenic	X-linked severe congenital neutropenia Wiskott-Aldrich syndrome Thrombocytopenia 1 X-linked severe congenital neutropenia Condition: not provided WAS-related disorder X-Linked Neutropenia	Criteria Provided Multiple Submitters No Conflicts	CA281104	rs_387906717	10 SubmittersRCV000022859 RCV001058962 RCV001268500 RCV003407355 RCV004782021
NM_001375834.1(WIPF1):c.1301C>G (p.Ser434Ter)	SNV Germline	Chr2:174567902	Pathogenic	Wiskott-Aldrich syndrome 2	No Assertion Criteria Provided	CA349336559	rs_1574785867	1 SubmittersRCV000023193
NM_000377.3(WAS):c.310C>T (p.Gln104Ter)	SNV Germline	ChrX:48685583	Likely pathogenic	Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA342894	rs_193922414	1 SubmittersRCV000030594
NM_000377.3(WAS):c.37C>T (p.Arg13Ter)	SNV Germline	ChrX:48683890	Pathogenic	Wiskott-Aldrich syndrome Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342897	rs_193922415	6 SubmittersRCV000030595 RCV001230612 RCV001311067
NM_000377.3(WAS):c.538C>A (p.His180Asn)	SNV Germline	ChrX:48686113	Conflicting classifications of pathogenicity	Thrombocytopenia 1 not specified Condition: not provided Wiskott-Aldrich syndrome Thrombocytopenia 1 X-linked severe congenital neutropenia WAS-related disorder	Criteria Provided Conflicting Classifications	CA162689	rs_145040665	9 SubmittersRCV000030596 RCV000122270 RCV000419963 RCV001086760 RCV003914875
NM_000377.3(WAS):c.391G>A (p.Glu131Lys)	SNV Germline	ChrX:48685764	Conflicting classifications of pathogenicity	not specified Condition: not provided X-linked severe congenital neutropenia X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome Thrombocytopenia 1 WAS-related disorder Wiskott-Aldrich syndrome	Criteria Provided Conflicting Classifications	CA162684	rs_146220228	11 SubmittersRCV000122268 RCV000514559 RCV000990810 RCV001081710 RCV002280873 RCV003975089 RCV003315781
NM_000377.3(WAS):c.413G>A (p.Arg138Gln)	SNV Germline	ChrX:48685786	Conflicting classifications of pathogenicity	not specified X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome Condition: not provided WAS-related disorder	Criteria Provided Conflicting Classifications	CA162686	rs_139265251	6 SubmittersRCV000122269 RCV000862741 RCV001261849 RCV003436938 RCV004748589
NM_000553.6(WRN):c.2937T>G (p.Ile979Met)	SNV Germline	Chr8:31132476	Conflicting classifications of pathogenicity	not specified Werner syndrome Wiskott-Aldrich syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA162722	rs_147802438	6 SubmittersRCV000122281 RCV000233425 RCV003315783 RCV004721269
NM_000553.6(WRN):c.107G>A (p.Arg36Gln)	SNV Germline	Chr8:31059163	Conflicting classifications of pathogenicity	not specified Condition: not provided Werner syndrome Wiskott-Aldrich syndrome WRN-related disorder	Criteria Provided Conflicting Classifications	CA162746	rs_34084741	6 SubmittersRCV000122289 RCV000733018 RCV001085837 RCV003315785 RCV003925216
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)	SNV Germline	Chr8:31173019	Conflicting classifications of pathogenicity	not specified Werner syndrome Condition: not provided Wiskott-Aldrich syndrome	Criteria Provided Conflicting Classifications	CA162779	rs_11574410	11 SubmittersRCV000122300 RCV000988046 RCV001785472 RCV003315787
NM_000377.3(WAS):c.285G>A (p.Leu95=)	SNV Germline	ChrX:48685558	Conflicting classifications of pathogenicity	Condition: not provided X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome not specified	Criteria Provided Conflicting Classifications	CA243149	rs_781799471	4 SubmittersRCV000177052 RCV001088097 RCV001818426
NM_001375834.1(WIPF1):c.208G>A (p.Gly70Ser)	SNV Germline	Chr2:174575354	Conflicting classifications of pathogenicity	not specified Wiskott-Aldrich syndrome 2 Inborn genetic diseases Condition: not provided WIPF1-related disorder	Criteria Provided Conflicting Classifications	CA1974200	rs_138276021	5 SubmittersRCV000238882 RCV000911281 RCV002518507 RCV004772885 RCV004757178
NM_000377.3(WAS):c.223G>A (p.Val75Met)	SNV Germline	ChrX:48684373	Pathogenic	Condition: not provided Thrombocytopenia 1 Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Wiskott-Aldrich syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10403870	rs_782290433	8 SubmittersRCV000255132 RCV000589566 RCV000768136 RCV006261962
NM_000377.3(WAS):c.264C>T (p.Tyr88=)	SNV Germline	ChrX:48684414	Conflicting classifications of pathogenicity	Condition: not provided Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia WAS-related disorder	Criteria Provided Conflicting Classifications	CA10403873	rs_150520117	6 SubmittersRCV000385059 RCV001083957 RCV003930142
NM_000377.3(WAS):c.777+1G>A	SNV Germline	ChrX:48688097	Pathogenic	Condition: not provided X-linked severe congenital neutropenia Wiskott-Aldrich syndrome Thrombocytopenia 1 Wiskott-Aldrich syndrome Thrombocytopenia 1 Inborn genetic diseases Colon adenocarcinoma	Criteria Provided Multiple Submitters No Conflicts	CA16043277	rs_1057517845	9 SubmittersRCV000413782 RCV000461952 RCV001290558 RCV003137992 RCV004022160 RCV005900671
NM_000377.3(WAS):c.559+5G>A	SNV Germline	ChrX:48686139	Pathogenic	Condition: not provided Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Wiskott-Aldrich syndrome Thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts	CA16043320	rs_886039451	7 SubmittersRCV000413138 RCV001390443 RCV001810445 RCV001810446
NM_000377.3(WAS):c.360+1G>A	SNV Germline	ChrX:48685634	Pathogenic	Condition: not provided Wiskott-Aldrich syndrome Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Multiple Submitters No Conflicts	CA16609187	rs_1057520700	3 SubmittersRCV000440734 RCV001174594 RCV003766237
NM_000377.3(WAS):c.273+1G>A	SNV Germline	ChrX:48684424	Pathogenic	Condition: not provided Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Multiple Submitters No Conflicts	CA16621418	rs_1064794076	2 SubmittersRCV000483001 RCV005222958
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)	SNV Germline	ChrX:48689434	Pathogenic	Condition: not provided Wiskott-Aldrich syndrome Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts	CA16621420	rs_1064793293	6 SubmittersRCV000482823 RCV000780796 RCV001038563 RCV006458397
NM_000377.3(WAS):c.1080A>C (p.Pro360=)	SNV Germline	ChrX:48688808	Conflicting classifications of pathogenicity	not specified Condition: not provided X-linked severe congenital neutropenia Wiskott-Aldrich syndrome Thrombocytopenia 1	Criteria Provided Conflicting Classifications	CA516356386	rs_1409607754	4 SubmittersRCV000501304 RCV003326446 RCV003766858
NM_000377.3(WAS):c.1208C>T (p.Pro403Leu)	SNV Germline	ChrX:48688936	Conflicting classifications of pathogenicity	Condition: not provided X-linked severe congenital neutropenia Wiskott-Aldrich syndrome Thrombocytopenia 1 WAS-related disorder Wiskott-Aldrich syndrome	Criteria Provided Conflicting Classifications	CA10404051	rs_782666797	7 SubmittersRCV000513228 RCV000766095 RCV003419885 RCV004760547
NM_000377.3(WAS):c.778-6G>A	SNV Germline	ChrX:48688294	Pathogenic	Condition: not provided X-linked severe congenital neutropenia Wiskott-Aldrich syndrome Thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts	CA658658985	rs_1557007011	2 SubmittersRCV000519975 RCV001387957
NM_000377.3(WAS):c.961C>T (p.Arg321Ter)	SNV Germline	ChrX:48688689	Pathogenic	Condition: not provided X-linked severe congenital neutropenia Wiskott-Aldrich syndrome Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Multiple Submitters No Conflicts	CA412872755	rs_1557007123	4 SubmittersRCV000520558 RCV000818878 RCV003155223
NM_001375834.1(WIPF1):c.1037C>T (p.Pro346Leu)	SNV Germline	Chr2:174571768	Conflicting classifications of pathogenicity	Wiskott-Aldrich syndrome 2 Condition: not provided WIPF1-related disorder	Criteria Provided Conflicting Classifications	CA1974010	rs_149434153	7 SubmittersRCV000560718 RCV001796117 RCV003952837
NM_000553.6(WRN):c.1378G>A (p.Asp460Asn)	SNV Germline	Chr8:31085193	Conflicting classifications of pathogenicity	Werner syndrome Wiskott-Aldrich syndrome WRN-related disorder	Criteria Provided Conflicting Classifications	CA4704341	rs_556958354	4 SubmittersRCV000551303 RCV003316686 RCV003942745
NM_000377.3(WAS):c.290G>A (p.Trp97Ter)	SNV Germline	ChrX:48685563	Likely pathogenic	Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412866888	rs_1557006474	1 SubmittersRCV000586328
NM_000377.3(WAS):c.553C>T (p.Gln185Ter)	SNV Germline	ChrX:48686128	Likely pathogenic	Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412869529	rs_1557006672	1 SubmittersRCV000589073
NM_001375834.1(WIPF1):c.1380C>T (p.Ser460=)	SNV Germline	Chr2:174567146	Conflicting classifications of pathogenicity	Wiskott-Aldrich syndrome 2	Criteria Provided Conflicting Classifications	CA1973913	rs_753915750	2 SubmittersRCV000650086
NM_000377.3(WAS):c.271C>T (p.Gln91Ter)	SNV Germline	ChrX:48684421	Pathogenic	X-linked severe congenital neutropenia Wiskott-Aldrich syndrome Thrombocytopenia 1	Criteria Provided Single Submitter	CA412866685	rs_1557006354	1 SubmittersRCV000633306
NM_000377.3(WAS):c.91G>A (p.Glu31Lys)	SNV Germline	ChrX:48683944	Pathogenic/Likely pathogenic	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Condition: not provided Wiskott-Aldrich syndrome	Criteria Provided Multiple Submitters No Conflicts	CA412865672	rs_1557006239	4 SubmittersRCV000633307 RCV000657918 RCV003991033
NM_000377.3(WAS):c.1455C>T (p.Asp485=)	SNV Germline	ChrX:48691108	Conflicting classifications of pathogenicity	Condition: not provided Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1 not specified	Criteria Provided Conflicting Classifications	CA10404102	rs_35359501	4 SubmittersRCV000659159 RCV002060788 RCV006452814
NM_000377.3(WAS):c.360+1G>C	SNV Germline	ChrX:48685634	Pathogenic	Wiskott-Aldrich syndrome	No Assertion Criteria Provided	CA412867292	rs_1057520700	1 SubmittersRCV000714956
NM_000377.3(WAS):c.734+2T>A	SNV Germline	ChrX:48686957	Pathogenic	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Single Submitter	CA412871162	rs_1569493877	1 SubmittersRCV000700442
NM_000377.3(WAS):c.257G>C (p.Arg86Pro)	SNV Germline	ChrX:48684407	Likely pathogenic	Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412866623	rs_132630268	1 SubmittersRCV000780795
NM_000377.3(WAS):c.735-2A>G	SNV Germline	ChrX:48688052	Pathogenic	Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412872029	rs_1602178800	2 SubmittersRCV000791261 RCV005213406
NM_001375834.1(WIPF1):c.473G>A (p.Arg158Lys)	SNV Germline	Chr2:174572332	Conflicting classifications of pathogenicity	Wiskott-Aldrich syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1974120	rs_148175242	3 SubmittersRCV000819400 RCV001090464
NM_000377.3(WAS):c.266G>A (p.Gly89Asp)	SNV Germline	ChrX:48684416	Conflicting classifications of pathogenicity	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10403875	rs_139857045	3 SubmittersRCV000812382 RCV003480857 RCV004782561
NM_000377.3(WAS):c.355G>T (p.Gly119Ter)	SNV Germline	ChrX:48685628	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412867255	rs_1602177243	1 SubmittersRCV000818272
NM_000377.3(WAS):c.631C>T (p.Arg211Ter)	SNV Germline	ChrX:48686852	Pathogenic	Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412870494	rs_1602178165	2 SubmittersRCV000802424 RCV002067393
NM_000377.3(WAS):c.1181C>T (p.Pro394Leu)	SNV Germline	ChrX:48688909	Conflicting classifications of pathogenicity	Thrombocytopenia 1 X-linked severe congenital neutropenia Wiskott-Aldrich syndrome not specified	Criteria Provided Conflicting Classifications	CA10404044	rs_373524969	4 SubmittersRCV000865882 RCV001816974
NM_000377.3(WAS):c.1049C>T (p.Ala350Val)	SNV Germline	ChrX:48688777	Conflicting classifications of pathogenicity	X-linked severe congenital neutropenia Wiskott-Aldrich syndrome Thrombocytopenia 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA412873120	rs_1307143057	2 SubmittersRCV001484626 RCV003307780
NM_000377.3(WAS):c.1081C>A (p.Pro361Thr)	SNV Germline	ChrX:48688809	Conflicting classifications of pathogenicity	X-linked severe congenital neutropenia X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Conflicting Classifications	CA10404035	rs_201657175	3 SubmittersRCV000990813 RCV001517040
NM_001375834.1(WIPF1):c.122G>A (p.Ser41Asn)	SNV Germline	Chr2:174581369	Conflicting classifications of pathogenicity	Wiskott-Aldrich syndrome 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1974229	rs_141730361	3 SubmittersRCV001049693 RCV002553208
NM_000377.3(WAS):c.70T>C (p.Ser24Pro)	SNV Germline	ChrX:48683923	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412865528	rs_2062410722	1 SubmittersRCV001035433
NM_000377.3(WAS):c.172C>A (p.Pro58Thr)	SNV Germline	ChrX:48684322	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412866249	rs_2062412365	1 SubmittersRCV001047233
NM_000377.3(WAS):c.238C>T (p.Gln80Ter)	SNV Germline	ChrX:48684388	Pathogenic	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Multiple Submitters No Conflicts	CA412866578	rs_2062412730	2 SubmittersRCV001058741
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter)	SNV Germline	ChrX:48688818	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412873267	rs_2062429013	4 SubmittersRCV001041620 RCV001091017
NM_000377.3(WAS):c.397G>A (p.Glu133Lys)	SNV Germline	ChrX:48685770	Pathogenic/Likely pathogenic	Wiskott-Aldrich syndrome	Criteria Provided Multiple Submitters No Conflicts	CA412867622	rs_2062417344	2 SubmittersRCV001090058
NM_000377.3(WAS):c.121C>T (p.Arg41Ter)	SNV Germline	ChrX:48683974	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome WAS-related disorder	Criteria Provided Single Submitter	CA329099985	rs_11545907	2 SubmittersRCV001216267 RCV003908449
NM_000377.3(WAS):c.142A>C (p.Thr48Pro)	SNV Germline	ChrX:48684292	Likely pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412866088	rs_2062412197	1 SubmittersRCV001204405
NM_000377.3(WAS):c.256C>T (p.Arg86Cys)	SNV Germline	ChrX:48684406	Pathogenic	Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome WAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA412866620	rs_2062412810	4 SubmittersRCV001205113 RCV001328370 RCV003938561
NM_000377.3(WAS):c.1199C>T (p.Pro400Leu)	SNV Germline	ChrX:48688927	Conflicting classifications of pathogenicity	Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10404048	rs_782596670	3 SubmittersRCV001236034 RCV006274163
NM_000377.3(WAS):c.1219G>A (p.Gly407Arg)	SNV Germline	ChrX:48688947	Conflicting classifications of pathogenicity	Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1	Criteria Provided Conflicting Classifications	CA10404054	rs_782602857	2 SubmittersRCV001231346
NM_001375834.1(WIPF1):c.709C>T (p.Gln237Ter)	SNV Germline	Chr2:174572096	Pathogenic	Wiskott-Aldrich syndrome 2	No Assertion Criteria Provided	CA349341992	rs_1684878263	1 SubmittersRCV001253818
NM_000377.3(WAS):c.869T>C (p.Ile290Thr)	SNV Germline	ChrX:48688391	Likely pathogenic	X-linked severe congenital neutropenia Condition: not provided Thrombocytopenia 1 X-linked severe congenital neutropenia Wiskott-Aldrich syndrome	Criteria Provided Multiple Submitters No Conflicts	CA412872351	rs_2062426981	3 SubmittersRCV001280623 RCV001509118 RCV005225346
NM_000377.3(WAS):c.374G>A (p.Gly125Glu)	SNV Unknown	ChrX:48685747	Likely pathogenic	Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412867412	rs_1557006534	1 SubmittersRCV001332389
NM_000377.3(WAS):c.250T>C (p.Phe84Leu)	SNV Germline	ChrX:48684400	Likely pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412866605	rs_2147262951	1 SubmittersRCV001379030
NM_000377.3(WAS):c.1453+2T>G	SNV Germline	ChrX:48689436	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412874033	rs_2147267350	1 SubmittersRCV001387958
NM_000377.3(WAS):c.1338+8C>T	SNV Germline	ChrX:48689074	Conflicting classifications of pathogenicity	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10404074	rs_782158640	2 SubmittersRCV001394922 RCV004597993
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu)	SNV Germline	ChrX:48689008	Conflicting classifications of pathogenicity	Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1 Inborn genetic diseases Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10404066	rs_782307200	5 SubmittersRCV001422797 RCV002555114 RCV006446155 RCV006457097
NM_000377.3(WAS):c.206G>C (p.Cys69Ser)	SNV Germline	ChrX:48684356	Conflicting classifications of pathogenicity	Condition: not provided Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1 WAS-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10403869	rs_374283590	4 SubmittersRCV001725810 RCV002073401 RCV003401658 RCV005762339
NM_000377.3(WAS):c.1150C>T (p.Pro384Ser)	SNV Germline	ChrX:48688878	Conflicting classifications of pathogenicity	not specified Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10404041	rs_782761074	4 SubmittersRCV001817169 RCV002489869 RCV003883705
NM_000377.3(WAS):c.192G>A (p.Trp64Ter)	SNV Germline	ChrX:48684342	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412866362	rs_2147262855	2 SubmittersRCV002542702 RCV001817745
NM_000377.3(WAS):c.373G>C (p.Gly125Arg)	SNV Germline	ChrX:48685746	Likely pathogenic	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Single Submitter	CA412867409	rs_2147263882	1 SubmittersRCV002004114
NM_000377.3(WAS):c.1388C>T (p.Ser463Leu)	SNV Germline	ChrX:48689369	Conflicting classifications of pathogenicity	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10404086	rs_782636781	3 SubmittersRCV001890157 RCV002552265
NM_000377.3(WAS):c.803G>A (p.Arg268Gln)	SNV Germline	ChrX:48688325	Conflicting classifications of pathogenicity	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia not specified	Criteria Provided Conflicting Classifications	CA10403992	rs_376560886	3 SubmittersRCV001965751 RCV005432873
NM_000377.3(WAS):c.382T>C (p.Phe128Leu)	SNV Germline	ChrX:48685755	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412867468	rs_2147263906	1 SubmittersRCV001928082
NM_000377.3(WAS):c.1339-2A>G	SNV Germline	ChrX:48689318	Pathogenic/Likely pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412873768	rs_2147267240	2 SubmittersRCV002012548 RCV003312034
NM_000377.3(WAS):c.778-1G>A	SNV Germline	ChrX:48688299	Likely pathogenic	Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412872144	rs_2147265861	1 SubmittersRCV002052149
NM_000377.3(WAS):c.593C>T (p.Ala198Val)	SNV Germline	ChrX:48686814	Conflicting classifications of pathogenicity	Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA10403959	rs_200261212	4 SubmittersRCV002122483 RCV004681440 RCV005239229
NM_000377.3(WAS):c.128G>A (p.Cys43Tyr)	SNV Germline	ChrX:48683981	Likely pathogenic	Wiskott-Aldrich syndrome	No Assertion Criteria Provided	CA412865923	rs_2147262523	1 SubmittersRCV002245338
NM_000377.3(WAS):c.16A>G (p.Met6Val)	SNV Germline	ChrX:48683869	Conflicting classifications of pathogenicity	not specified X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Conflicting Classifications	CA10403829	rs_782730988	2 SubmittersRCV002248938 RCV003774705
NM_000377.3(WAS):c.383T>C (p.Phe128Ser)	SNV Germline	ChrX:48685756	Pathogenic/Likely pathogenic	Condition: not provided Thrombocytopenia 1 X-linked severe congenital neutropenia Wiskott-Aldrich syndrome	Criteria Provided Multiple Submitters No Conflicts	CA412867479	rs_2519280746	2 SubmittersRCV002508888 RCV003775557
NM_000377.3(WAS):c.58C>T (p.Gln20Ter)	SNV Germline	ChrX:48683911	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412865428	rs_797044477	1 SubmittersRCV003064718
NM_000377.3(WAS):c.264C>A (p.Tyr88Ter)	SNV Germline	ChrX:48684414	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412866647	rs_150520117	1 SubmittersRCV003041444
NM_000377.3(WAS):c.302T>C (p.Leu101Pro)	SNV Germline	ChrX:48685575	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412866968	rs_2519280132	1 SubmittersRCV003041445
NM_000377.3(WAS):c.319T>C (p.Tyr107His)	SNV Germline	ChrX:48685592	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412867060	rs_2519280195	1 SubmittersRCV003041446
NM_000377.3(WAS):c.401C>T (p.Ala134Val)	SNV Germline	ChrX:48685774	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412867707	rs_2519280832	1 SubmittersRCV003064719
NM_000377.3(WAS):c.964G>T (p.Gly322Ter)	SNV Germline	ChrX:48688692	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412872767	rs_2519286526	1 SubmittersRCV002829716
NM_000377.3(WAS):c.383T>G (p.Phe128Cys)	SNV Germline	ChrX:48685756	Likely pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412867482	rs_2519280746	1 SubmittersRCV002871544
NM_000377.3(WAS):c.765G>C (p.Gln255His)	SNV Germline	ChrX:48688084	Conflicting classifications of pathogenicity	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA10403980	rs_782631956	3 SubmittersRCV002933443 RCV002952500 RCV006460320
NM_000377.3(WAS):c.1001G>A (p.Gly334Asp)	SNV Germline	ChrX:48688729	Conflicting classifications of pathogenicity	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Conflicting Classifications	CA10404029	rs_782420124	2 SubmittersRCV002926919
NM_000377.3(WAS):c.735-2A>T	SNV Germline	ChrX:48688052	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412872030	rs_1602178800	1 SubmittersRCV003013605
NM_000377.3(WAS):c.361-1G>C	SNV Germline	ChrX:48685733	Pathogenic	Thrombocytopenia 1 X-linked severe congenital neutropenia Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412867329	rs_2519280651	1 SubmittersRCV003051659
NM_000377.3(WAS):c.1166G>A (p.Gly389Asp)	SNV Germline	ChrX:48688894	Conflicting classifications of pathogenicity	Condition: not provided X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Conflicting Classifications	CA412873418	rs_868970795	3 SubmittersRCV003139309 RCV003778819
NM_000377.3(WAS):c.671A>G (p.Asp224Gly)	SNV Germline	ChrX:48686892	Pathogenic/Likely pathogenic	Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Multiple Submitters No Conflicts	CA412870771	rs_2519283290	2 SubmittersRCV003152995 RCV006561106
NM_000377.3(WAS):c.104T>C (p.Leu35Pro)	SNV Germline	ChrX:48683957	Likely pathogenic	Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412865777	rs_2519277671	1 SubmittersRCV003219202
NM_000377.3(WAS):c.632G>A (p.Arg211Gln)	SNV Germline	ChrX:48686853	Conflicting classifications of pathogenicity	WAS-related disorder X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Conflicting Classifications	CA10403962	rs_782584950	2 SubmittersRCV003412234 RCV003778205
NM_000377.3(WAS):c.38G>A (p.Arg13Gln)	SNV Germline	ChrX:48683891	Conflicting classifications of pathogenicity	Condition: not provided X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Conflicting Classifications	CA412865286	rs_1440423616	2 SubmittersRCV003438236 RCV003778454
NM_001375834.1(WIPF1):c.587C>G (p.Ser196Ter)	SNV Germline	Chr2:174572218	Pathogenic	Wiskott-Aldrich syndrome 2	Criteria Provided Single Submitter	CA349342727	rs_2468475708	1 SubmittersRCV003643830
NM_000377.3(WAS):c.1022C>T (p.Pro341Leu)	SNV Germline	ChrX:48688750	Conflicting classifications of pathogenicity	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10404031	rs_782195195	2 SubmittersRCV003785859 RCV006368584
NM_000377.3(WAS):c.399G>T (p.Glu133Asp)	SNV Germline	ChrX:48685772	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412867667	rs_2519280825	1 SubmittersRCV003783760
NM_000377.3(WAS):c.687G>T (p.Gly229=)	SNV Germline	ChrX:48686908	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA516023304	rs_2147264930	1 SubmittersRCV003783764
NM_000377.3(WAS):c.1318C>T (p.Gln440Ter)	SNV Germline	ChrX:48689046	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412873713	rs_1243089358	1 SubmittersRCV003783767
NM_000377.3(WAS):c.734+1G>C	SNV Germline	ChrX:48686956	Pathogenic	Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1	Criteria Provided Single Submitter	CA412871158	rs_2519283517	1 SubmittersRCV003797908
NM_000377.3(WAS):c.1244T>C (p.Leu415Pro)	SNV Germline	ChrX:48688972	Conflicting classifications of pathogenicity	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10404058	rs_782115211	2 SubmittersRCV003780785 RCV006368587
NM_000377.3(WAS):c.524C>T (p.Pro175Leu)	SNV Germline	ChrX:48686099	Conflicting classifications of pathogenicity	Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1	Criteria Provided Conflicting Classifications	CA10403941	rs_149932808	2 SubmittersRCV003787973
NM_000377.3(WAS):c.706G>A (p.Ala236Thr)	SNV Germline	ChrX:48686927	Conflicting classifications of pathogenicity	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Conflicting Classifications	CA10403968	rs_782415042	2 SubmittersRCV003793561
NM_000377.3(WAS):c.638G>A (p.Arg213His)	SNV Germline	ChrX:48686859	Conflicting classifications of pathogenicity	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10403963	rs_782224455	2 SubmittersRCV003809117 RCV004676291
NM_000377.3(WAS):c.463+1G>A	SNV Germline	ChrX:48685837	Likely pathogenic	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Single Submitter	CA412868350	rs_2519281091	1 SubmittersRCV003801681
NM_000377.3(WAS):c.82C>T (p.Gln28Ter)	SNV Germline	ChrX:48683935	Pathogenic	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Single Submitter	CA412865612	rs_2519277606	1 SubmittersRCV003807543
NM_000377.3(WAS):c.1453+1G>A	SNV Germline	ChrX:48689435	Pathogenic	WAS-related disorder X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter	CA412874028	rs_2519289166	2 SubmittersRCV003932228 RCV005220798
NM_000377.3(WAS):c.886G>A (p.Asp296Asn)	SNV Germline	ChrX:48688408	Conflicting classifications of pathogenicity	Inborn genetic diseases Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Conflicting Classifications	CA412872391	rs_1186676831	3 SubmittersRCV004477872 RCV005040677
NM_000377.3(WAS):c.629C>G (p.Ser210Ter)	SNV Germline	ChrX:48686850	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004797539
NM_000377.3(WAS):c.691A>T (p.Lys231Ter)	SNV Germline	ChrX:48686912	Pathogenic	Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1	Criteria Provided Single Submitter			1 SubmittersRCV005041824
NM_000377.3(WAS):c.913C>T (p.Gln305Ter)	SNV Germline	ChrX:48688435	Pathogenic	Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1	Criteria Provided Single Submitter			1 SubmittersRCV005041825
NM_001375834.1(WIPF1):c.373C>T (p.Arg125Ter)	SNV Germline	Chr2:174572432	Pathogenic	Wiskott-Aldrich syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV005173343
NM_000377.3(WAS):c.454C>T (p.Gln152Ter)	SNV Germline	ChrX:48685827	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005211168
NM_000377.3(WAS):c.931+1G>C	SNV Germline	ChrX:48688454	Pathogenic	Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1	Criteria Provided Single Submitter			1 SubmittersRCV005211169
NM_000377.3(WAS):c.1390G>T (p.Glu464Ter)	SNV Germline	ChrX:48689371	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005223690
NM_000377.3(WAS):c.506-1G>C	SNV Germline	ChrX:48686080	Likely pathogenic	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Single Submitter			1 SubmittersRCV005215184
NM_000377.3(WAS):c.209G>T (p.Gly70Val)	SNV Germline	ChrX:48684359	Likely pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005213164
NM_000377.3(WAS):c.931+1G>A	SNV Germline	ChrX:48688454	Pathogenic	Wiskott-Aldrich syndrome Thrombocytopenia 1 X-linked severe congenital neutropenia	Criteria Provided Single Submitter			1 SubmittersRCV005233163
NM_000377.3(WAS):c.331A>C (p.Thr111Pro)	SNV Germline	ChrX:48685604	Likely pathogenic	Wiskott-Aldrich syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005408119
NM_000377.3(WAS):c.343C>T (p.His115Tyr)	SNV Germline	ChrX:48685616	Likely pathogenic	Wiskott-Aldrich syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005408145
NM_000377.3(WAS):c.245C>T (p.Ser82Phe)	SNV Germline	ChrX:48684395	Pathogenic	Wiskott-Aldrich syndrome	No Assertion Criteria Provided			1 SubmittersRCV005862049
NM_000377.3(WAS):c.355G>A (p.Gly119Arg)	SNV Germline	ChrX:48685628	Pathogenic	Wiskott-Aldrich syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006266522
NM_000377.3(WAS):c.777+1G>T	SNV Germline	ChrX:48688097	Likely pathogenic	Wiskott-Aldrich syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006269170
NM_000377.3(WAS):c.219C>A (p.Cys73Ter)	SNV Germline	ChrX:48684369	Pathogenic	Wiskott-Aldrich syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006272225
NM_000377.3(WAS):c.208G>A (p.Gly70Arg)	SNV Germline	ChrX:48684358	Likely pathogenic	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Single Submitter			1 SubmittersRCV006598514
NM_000377.3(WAS):c.756G>A (p.Trp252Ter)	SNV Germline	ChrX:48688075	Pathogenic	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Single Submitter			1 SubmittersRCV006598517

SNV
Germline

ChrX:48684407

Pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

CA341001

rs_132630268

1 SubmittersRCV000011863

NM_000377.3(WAS):c.257G>A (p.Arg86His)

SNV
Germline

ChrX:48684407

Pathogenic

Wiskott-Aldrich syndrome
Condition: not provided
Wiskott-Aldrich syndrome
Thrombocytopenia 1
X-linked severe congenital neutropenia

Criteria Provided
Multiple Submitters
No Conflicts

CA341003

rs_132630268

9 SubmittersRCV000011864 RCV000414284 RCV000633305

NM_000377.3(WAS):c.167C>T (p.Ala56Val)

SNV
Germline

ChrX:48684317

Pathogenic

Thrombocytopenia 1
Condition: not provided
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome
Thrombocytopenia 1
X-linked severe congenital neutropenia

Criteria Provided
Multiple Submitters
No Conflicts

CA255723

rs_132630269

5 SubmittersRCV000011865 RCV001563489 RCV002243636 RCV003764557

NM_000377.3(WAS):c.100C>T (p.Arg34Ter)

SNV
Germline

ChrX:48683953

Pathogenic

Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Single Submitter

CA341005

rs_132630271

2 SubmittersRCV000011868 RCV003764558

NM_000377.3(WAS):c.1A>T (p.Met1Leu)

SNV
Somatic

ChrX:48683854

Pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

CA341008

rs_587776742

1 SubmittersRCV000011869

NM_000377.3(WAS):c.244T>C (p.Ser82Pro)

SNV
Germline

ChrX:48684394

Likely pathogenic

WISKOTT-ALDRICH SYNDROME, ATTENUATED
Condition: not provided

Criteria Provided
Single Submitter

CA121359

rs_132630272

2 SubmittersRCV000011871 RCV001509116

NM_000377.3(WAS):c.134C>T (p.Thr45Met)

SNV
Germline

ChrX:48684284

Pathogenic

Thrombocytopenia 1
Thrombocytopenia
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1
Condition: not provided
Wiskott-Aldrich syndrome
WAS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA255728

rs_132630273

10 SubmittersRCV000011872 RCV000851684 RCV001037597 RCV001172206 RCV004760326 RCV004748516

NM_000377.3(WAS):c.809T>C (p.Leu270Pro)

SNV
Germline

ChrX:48688331

Pathogenic/Likely pathogenic

X-linked severe congenital neutropenia
Condition: not provided
Wiskott-Aldrich syndrome
Thrombocytopenia 1
X-linked severe congenital neutropenia

Criteria Provided
Multiple Submitters
No Conflicts

CA280988

rs_132630274

3 SubmittersRCV000011874 RCV001291553 RCV001851800

NM_000377.3(WAS):c.560-1G>A

SNV
Germline

ChrX:48686780

Pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

CA412869779

rs_1602178087

1 SubmittersRCV000011880

NM_000377.3(WAS):c.559+2T>G

SNV
Germline

ChrX:48686136

Pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

CA412869598

rs_1602177733

1 SubmittersRCV000011881

NM_000377.3(WAS):c.814T>C (p.Ser272Pro)

SNV
Germline

ChrX:48688336

Likely pathogenic

X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome
Thrombocytopenia 1
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

CA281101

rs_387906716

2 SubmittersRCV000022858 RCV003764631

NM_000377.3(WAS):c.881T>C (p.Ile294Thr)

SNV
Germline

ChrX:48688403

Pathogenic/Likely pathogenic

X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome
Thrombocytopenia 1
X-linked severe congenital neutropenia
Condition: not provided
WAS-related disorder
X-Linked Neutropenia

Criteria Provided
Multiple Submitters
No Conflicts

CA281104

rs_387906717

10 SubmittersRCV000022859 RCV001058962 RCV001268500 RCV003407355 RCV004782021

NM_001375834.1(WIPF1):c.1301C>G (p.Ser434Ter)

SNV
Germline

Chr2:174567902

Pathogenic

Wiskott-Aldrich syndrome 2

No Assertion Criteria Provided

CA349336559

rs_1574785867

1 SubmittersRCV000023193

NM_000377.3(WAS):c.310C>T (p.Gln104Ter)

SNV
Germline

ChrX:48685583

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA342894

rs_193922414

1 SubmittersRCV000030594

NM_000377.3(WAS):c.37C>T (p.Arg13Ter)

SNV
Germline

ChrX:48683890

Pathogenic

Wiskott-Aldrich syndrome
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA342897

rs_193922415

6 SubmittersRCV000030595 RCV001230612 RCV001311067

NM_000377.3(WAS):c.538C>A (p.His180Asn)

SNV
Germline

ChrX:48686113

Conflicting classifications of pathogenicity

Thrombocytopenia 1
not specified
Condition: not provided
Wiskott-Aldrich syndrome
Thrombocytopenia 1
X-linked severe congenital neutropenia
WAS-related disorder

Criteria Provided
Conflicting Classifications

CA162689

rs_145040665

9 SubmittersRCV000030596 RCV000122270 RCV000419963 RCV001086760 RCV003914875

NM_000377.3(WAS):c.391G>A (p.Glu131Lys)

SNV
Germline

ChrX:48685764

Conflicting classifications of pathogenicity

not specified
Condition: not provided
X-linked severe congenital neutropenia
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
Thrombocytopenia 1
WAS-related disorder
Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

CA162684

rs_146220228

11 SubmittersRCV000122268 RCV000514559 RCV000990810 RCV001081710 RCV002280873 RCV003975089 RCV003315781

NM_000377.3(WAS):c.413G>A (p.Arg138Gln)

SNV
Germline

ChrX:48685786

Conflicting classifications of pathogenicity

not specified
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome
Condition: not provided
WAS-related disorder

Criteria Provided
Conflicting Classifications

CA162686

rs_139265251

6 SubmittersRCV000122269 RCV000862741 RCV001261849 RCV003436938 RCV004748589

NM_000553.6(WRN):c.2937T>G (p.Ile979Met)

SNV
Germline

Chr8:31132476

Conflicting classifications of pathogenicity

not specified
Werner syndrome
Wiskott-Aldrich syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA162722

rs_147802438

6 SubmittersRCV000122281 RCV000233425 RCV003315783 RCV004721269

NM_000553.6(WRN):c.107G>A (p.Arg36Gln)

SNV
Germline

Chr8:31059163

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Werner syndrome
Wiskott-Aldrich syndrome
WRN-related disorder

Criteria Provided
Conflicting Classifications

CA162746

rs_34084741

6 SubmittersRCV000122289 RCV000733018 RCV001085837 RCV003315785 RCV003925216

NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)

SNV
Germline

Chr8:31173019

Conflicting classifications of pathogenicity

not specified
Werner syndrome
Condition: not provided
Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

CA162779

rs_11574410

11 SubmittersRCV000122300 RCV000988046 RCV001785472 RCV003315787

NM_000377.3(WAS):c.285G>A (p.Leu95=)

SNV
Germline

ChrX:48685558

Conflicting classifications of pathogenicity

Condition: not provided
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
not specified

Criteria Provided
Conflicting Classifications

CA243149

rs_781799471

4 SubmittersRCV000177052 RCV001088097 RCV001818426

NM_001375834.1(WIPF1):c.208G>A (p.Gly70Ser)

SNV
Germline

Chr2:174575354

Conflicting classifications of pathogenicity

not specified
Wiskott-Aldrich syndrome 2
Inborn genetic diseases
Condition: not provided
WIPF1-related disorder

Criteria Provided
Conflicting Classifications

CA1974200

rs_138276021

5 SubmittersRCV000238882 RCV000911281 RCV002518507 RCV004772885 RCV004757178

NM_000377.3(WAS):c.223G>A (p.Val75Met)

SNV
Germline

ChrX:48684373

Pathogenic

Condition: not provided
Thrombocytopenia 1
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10403870

rs_782290433

8 SubmittersRCV000255132 RCV000589566 RCV000768136 RCV006261962

NM_000377.3(WAS):c.264C>T (p.Tyr88=)

SNV
Germline

ChrX:48684414

Conflicting classifications of pathogenicity

Condition: not provided
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
WAS-related disorder

Criteria Provided
Conflicting Classifications

CA10403873

rs_150520117

6 SubmittersRCV000385059 RCV001083957 RCV003930142

NM_000377.3(WAS):c.777+1G>A

SNV
Germline

ChrX:48688097

Pathogenic

Condition: not provided
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome
Thrombocytopenia 1
Wiskott-Aldrich syndrome
Thrombocytopenia 1
Inborn genetic diseases
Colon adenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16043277

rs_1057517845

9 SubmittersRCV000413782 RCV000461952 RCV001290558 RCV003137992 RCV004022160 RCV005900671

NM_000377.3(WAS):c.559+5G>A

SNV
Germline

ChrX:48686139

Pathogenic

Condition: not provided
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome
Thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16043320

rs_886039451

7 SubmittersRCV000413138 RCV001390443 RCV001810445 RCV001810446

NM_000377.3(WAS):c.360+1G>A

SNV
Germline

ChrX:48685634

Pathogenic

Condition: not provided
Wiskott-Aldrich syndrome
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Multiple Submitters
No Conflicts

CA16609187

rs_1057520700

3 SubmittersRCV000440734 RCV001174594 RCV003766237

NM_000377.3(WAS):c.273+1G>A

SNV
Germline

ChrX:48684424

Pathogenic

Condition: not provided
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Multiple Submitters
No Conflicts

CA16621418

rs_1064794076

2 SubmittersRCV000483001 RCV005222958

NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)

SNV
Germline

ChrX:48689434

Pathogenic

Condition: not provided
Wiskott-Aldrich syndrome
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16621420

rs_1064793293

6 SubmittersRCV000482823 RCV000780796 RCV001038563 RCV006458397

NM_000377.3(WAS):c.1080A>C (p.Pro360=)

SNV
Germline

ChrX:48688808

Conflicting classifications of pathogenicity

not specified
Condition: not provided
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome
Thrombocytopenia 1

Criteria Provided
Conflicting Classifications

CA516356386

rs_1409607754

4 SubmittersRCV000501304 RCV003326446 RCV003766858

NM_000377.3(WAS):c.1208C>T (p.Pro403Leu)

SNV
Germline

ChrX:48688936

Conflicting classifications of pathogenicity

Condition: not provided
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome
Thrombocytopenia 1
WAS-related disorder
Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

CA10404051

rs_782666797

7 SubmittersRCV000513228 RCV000766095 RCV003419885 RCV004760547

NM_000377.3(WAS):c.778-6G>A

SNV
Germline

ChrX:48688294

Pathogenic

Condition: not provided
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome
Thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA658658985

rs_1557007011

2 SubmittersRCV000519975 RCV001387957

NM_000377.3(WAS):c.961C>T (p.Arg321Ter)

SNV
Germline

ChrX:48688689

Pathogenic

Condition: not provided
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA412872755

rs_1557007123

4 SubmittersRCV000520558 RCV000818878 RCV003155223

NM_001375834.1(WIPF1):c.1037C>T (p.Pro346Leu)

SNV
Germline

Chr2:174571768

Conflicting classifications of pathogenicity

Wiskott-Aldrich syndrome 2
Condition: not provided
WIPF1-related disorder

Criteria Provided
Conflicting Classifications

CA1974010

rs_149434153

7 SubmittersRCV000560718 RCV001796117 RCV003952837

NM_000553.6(WRN):c.1378G>A (p.Asp460Asn)

SNV
Germline

Chr8:31085193

Conflicting classifications of pathogenicity

Werner syndrome
Wiskott-Aldrich syndrome
WRN-related disorder

Criteria Provided
Conflicting Classifications

CA4704341

rs_556958354

4 SubmittersRCV000551303 RCV003316686 RCV003942745

NM_000377.3(WAS):c.290G>A (p.Trp97Ter)

SNV
Germline

ChrX:48685563

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412866888

rs_1557006474

1 SubmittersRCV000586328

NM_000377.3(WAS):c.553C>T (p.Gln185Ter)

SNV
Germline

ChrX:48686128

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412869529

rs_1557006672

1 SubmittersRCV000589073

NM_001375834.1(WIPF1):c.1380C>T (p.Ser460=)

SNV
Germline

Chr2:174567146

Conflicting classifications of pathogenicity

Wiskott-Aldrich syndrome 2

Criteria Provided
Conflicting Classifications

CA1973913

rs_753915750

2 SubmittersRCV000650086

NM_000377.3(WAS):c.271C>T (p.Gln91Ter)

SNV
Germline

ChrX:48684421

Pathogenic

X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome
Thrombocytopenia 1

Criteria Provided
Single Submitter

CA412866685

rs_1557006354

1 SubmittersRCV000633306

NM_000377.3(WAS):c.91G>A (p.Glu31Lys)

SNV
Germline

ChrX:48683944

Pathogenic/Likely pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Condition: not provided
Wiskott-Aldrich syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA412865672

rs_1557006239

4 SubmittersRCV000633307 RCV000657918 RCV003991033

NM_000377.3(WAS):c.1455C>T (p.Asp485=)

SNV
Germline

ChrX:48691108

Conflicting classifications of pathogenicity

Condition: not provided
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1
not specified

Criteria Provided
Conflicting Classifications

CA10404102

rs_35359501

4 SubmittersRCV000659159 RCV002060788 RCV006452814

NM_000377.3(WAS):c.360+1G>C

SNV
Germline

ChrX:48685634

Pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

CA412867292

rs_1057520700

1 SubmittersRCV000714956

NM_000377.3(WAS):c.734+2T>A

SNV
Germline

ChrX:48686957

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

CA412871162

rs_1569493877

1 SubmittersRCV000700442

NM_000377.3(WAS):c.257G>C (p.Arg86Pro)

SNV
Germline

ChrX:48684407

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412866623

rs_132630268

1 SubmittersRCV000780795

NM_000377.3(WAS):c.735-2A>G

SNV
Germline

ChrX:48688052

Pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412872029

rs_1602178800

2 SubmittersRCV000791261 RCV005213406

NM_001375834.1(WIPF1):c.473G>A (p.Arg158Lys)

SNV
Germline

Chr2:174572332

Conflicting classifications of pathogenicity

Wiskott-Aldrich syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1974120

rs_148175242

3 SubmittersRCV000819400 RCV001090464

NM_000377.3(WAS):c.266G>A (p.Gly89Asp)

SNV
Germline

ChrX:48684416

Conflicting classifications of pathogenicity

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10403875

rs_139857045

3 SubmittersRCV000812382 RCV003480857 RCV004782561

NM_000377.3(WAS):c.355G>T (p.Gly119Ter)

SNV
Germline

ChrX:48685628

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412867255

rs_1602177243

1 SubmittersRCV000818272

NM_000377.3(WAS):c.631C>T (p.Arg211Ter)

SNV
Germline

ChrX:48686852

Pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412870494

rs_1602178165

2 SubmittersRCV000802424 RCV002067393

NM_000377.3(WAS):c.1181C>T (p.Pro394Leu)

SNV
Germline

ChrX:48688909

Conflicting classifications of pathogenicity

Thrombocytopenia 1
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10404044

rs_373524969

4 SubmittersRCV000865882 RCV001816974

NM_000377.3(WAS):c.1049C>T (p.Ala350Val)

SNV
Germline

ChrX:48688777

Conflicting classifications of pathogenicity

X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome
Thrombocytopenia 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA412873120

rs_1307143057

2 SubmittersRCV001484626 RCV003307780

NM_000377.3(WAS):c.1081C>A (p.Pro361Thr)

SNV
Germline

ChrX:48688809

Conflicting classifications of pathogenicity

X-linked severe congenital neutropenia
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

CA10404035

rs_201657175

3 SubmittersRCV000990813 RCV001517040

NM_001375834.1(WIPF1):c.122G>A (p.Ser41Asn)

SNV
Germline

Chr2:174581369

Conflicting classifications of pathogenicity

Wiskott-Aldrich syndrome 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1974229

rs_141730361

3 SubmittersRCV001049693 RCV002553208

NM_000377.3(WAS):c.70T>C (p.Ser24Pro)

SNV
Germline

ChrX:48683923

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412865528

rs_2062410722

1 SubmittersRCV001035433

NM_000377.3(WAS):c.172C>A (p.Pro58Thr)

SNV
Germline

ChrX:48684322

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412866249

rs_2062412365

1 SubmittersRCV001047233

NM_000377.3(WAS):c.238C>T (p.Gln80Ter)

SNV
Germline

ChrX:48684388

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Multiple Submitters
No Conflicts

CA412866578

rs_2062412730

2 SubmittersRCV001058741

NM_000377.3(WAS):c.1090C>T (p.Arg364Ter)

SNV
Germline

ChrX:48688818

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412873267

rs_2062429013

4 SubmittersRCV001041620 RCV001091017

NM_000377.3(WAS):c.397G>A (p.Glu133Lys)

SNV
Germline

ChrX:48685770

Pathogenic/Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA412867622

rs_2062417344

2 SubmittersRCV001090058

NM_000377.3(WAS):c.121C>T (p.Arg41Ter)

SNV
Germline

ChrX:48683974

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
WAS-related disorder

Criteria Provided
Single Submitter

CA329099985

rs_11545907

2 SubmittersRCV001216267 RCV003908449

NM_000377.3(WAS):c.142A>C (p.Thr48Pro)

SNV
Germline

ChrX:48684292

Likely pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412866088

rs_2062412197

1 SubmittersRCV001204405

NM_000377.3(WAS):c.256C>T (p.Arg86Cys)

SNV
Germline

ChrX:48684406

Pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
WAS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA412866620

rs_2062412810

4 SubmittersRCV001205113 RCV001328370 RCV003938561

NM_000377.3(WAS):c.1199C>T (p.Pro400Leu)

SNV
Germline

ChrX:48688927

Conflicting classifications of pathogenicity

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10404048

rs_782596670

3 SubmittersRCV001236034 RCV006274163

NM_000377.3(WAS):c.1219G>A (p.Gly407Arg)

SNV
Germline

ChrX:48688947

Conflicting classifications of pathogenicity

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Conflicting Classifications

CA10404054

rs_782602857

2 SubmittersRCV001231346

NM_001375834.1(WIPF1):c.709C>T (p.Gln237Ter)

SNV
Germline

Chr2:174572096

Pathogenic

Wiskott-Aldrich syndrome 2

No Assertion Criteria Provided

CA349341992

rs_1684878263

1 SubmittersRCV001253818

NM_000377.3(WAS):c.869T>C (p.Ile290Thr)

SNV
Germline

ChrX:48688391

Likely pathogenic

X-linked severe congenital neutropenia
Condition: not provided
Thrombocytopenia 1
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA412872351

rs_2062426981

3 SubmittersRCV001280623 RCV001509118 RCV005225346

NM_000377.3(WAS):c.374G>A (p.Gly125Glu)

SNV
Unknown

ChrX:48685747

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412867412

rs_1557006534

1 SubmittersRCV001332389

NM_000377.3(WAS):c.250T>C (p.Phe84Leu)

SNV
Germline

ChrX:48684400

Likely pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412866605

rs_2147262951

1 SubmittersRCV001379030

NM_000377.3(WAS):c.1453+2T>G

SNV
Germline

ChrX:48689436

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412874033

rs_2147267350

1 SubmittersRCV001387958

NM_000377.3(WAS):c.1338+8C>T

SNV
Germline

ChrX:48689074

Conflicting classifications of pathogenicity

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10404074

rs_782158640

2 SubmittersRCV001394922 RCV004597993

NM_000377.3(WAS):c.1280C>T (p.Pro427Leu)

SNV
Germline

ChrX:48689008

Conflicting classifications of pathogenicity

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1
Inborn genetic diseases
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10404066

rs_782307200

5 SubmittersRCV001422797 RCV002555114 RCV006446155 RCV006457097

NM_000377.3(WAS):c.206G>C (p.Cys69Ser)

SNV
Germline

ChrX:48684356

Conflicting classifications of pathogenicity

Condition: not provided
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1
WAS-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10403869

rs_374283590

4 SubmittersRCV001725810 RCV002073401 RCV003401658 RCV005762339

NM_000377.3(WAS):c.1150C>T (p.Pro384Ser)

SNV
Germline

ChrX:48688878

Conflicting classifications of pathogenicity

not specified
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10404041

rs_782761074

4 SubmittersRCV001817169 RCV002489869 RCV003883705

NM_000377.3(WAS):c.192G>A (p.Trp64Ter)

SNV
Germline

ChrX:48684342

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412866362

rs_2147262855

2 SubmittersRCV002542702 RCV001817745

NM_000377.3(WAS):c.373G>C (p.Gly125Arg)

SNV
Germline

ChrX:48685746

Likely pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

CA412867409

rs_2147263882

1 SubmittersRCV002004114

NM_000377.3(WAS):c.1388C>T (p.Ser463Leu)

SNV
Germline

ChrX:48689369

Conflicting classifications of pathogenicity

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10404086

rs_782636781

3 SubmittersRCV001890157 RCV002552265

NM_000377.3(WAS):c.803G>A (p.Arg268Gln)

SNV
Germline

ChrX:48688325

Conflicting classifications of pathogenicity

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
not specified

Criteria Provided
Conflicting Classifications

CA10403992

rs_376560886

3 SubmittersRCV001965751 RCV005432873

NM_000377.3(WAS):c.382T>C (p.Phe128Leu)

SNV
Germline

ChrX:48685755

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412867468

rs_2147263906

1 SubmittersRCV001928082

NM_000377.3(WAS):c.1339-2A>G

SNV
Germline

ChrX:48689318

Pathogenic/Likely pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412873768

rs_2147267240

2 SubmittersRCV002012548 RCV003312034

NM_000377.3(WAS):c.778-1G>A

SNV
Germline

ChrX:48688299

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412872144

rs_2147265861

1 SubmittersRCV002052149

NM_000377.3(WAS):c.593C>T (p.Ala198Val)

SNV
Germline

ChrX:48686814

Conflicting classifications of pathogenicity

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA10403959

rs_200261212

4 SubmittersRCV002122483 RCV004681440 RCV005239229

NM_000377.3(WAS):c.128G>A (p.Cys43Tyr)

SNV
Germline

ChrX:48683981

Likely pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

CA412865923

rs_2147262523

1 SubmittersRCV002245338

NM_000377.3(WAS):c.16A>G (p.Met6Val)

SNV
Germline

ChrX:48683869

Conflicting classifications of pathogenicity

not specified
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

CA10403829

rs_782730988

2 SubmittersRCV002248938 RCV003774705

NM_000377.3(WAS):c.383T>C (p.Phe128Ser)

SNV
Germline

ChrX:48685756

Pathogenic/Likely pathogenic

Condition: not provided
Thrombocytopenia 1
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA412867479

rs_2519280746

2 SubmittersRCV002508888 RCV003775557

NM_000377.3(WAS):c.58C>T (p.Gln20Ter)

SNV
Germline

ChrX:48683911

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412865428

rs_797044477

1 SubmittersRCV003064718

NM_000377.3(WAS):c.264C>A (p.Tyr88Ter)

SNV
Germline

ChrX:48684414

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412866647

rs_150520117

1 SubmittersRCV003041444

NM_000377.3(WAS):c.302T>C (p.Leu101Pro)

SNV
Germline

ChrX:48685575

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412866968

rs_2519280132

1 SubmittersRCV003041445

NM_000377.3(WAS):c.319T>C (p.Tyr107His)

SNV
Germline

ChrX:48685592

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412867060

rs_2519280195

1 SubmittersRCV003041446

NM_000377.3(WAS):c.401C>T (p.Ala134Val)

SNV
Germline

ChrX:48685774

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412867707

rs_2519280832

1 SubmittersRCV003064719

NM_000377.3(WAS):c.964G>T (p.Gly322Ter)

SNV
Germline

ChrX:48688692

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412872767

rs_2519286526

1 SubmittersRCV002829716

NM_000377.3(WAS):c.383T>G (p.Phe128Cys)

SNV
Germline

ChrX:48685756

Likely pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412867482

rs_2519280746

1 SubmittersRCV002871544

NM_000377.3(WAS):c.765G>C (p.Gln255His)

SNV
Germline

ChrX:48688084

Conflicting classifications of pathogenicity

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA10403980

rs_782631956

3 SubmittersRCV002933443 RCV002952500 RCV006460320

NM_000377.3(WAS):c.1001G>A (p.Gly334Asp)

SNV
Germline

ChrX:48688729

Conflicting classifications of pathogenicity

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Conflicting Classifications

CA10404029

rs_782420124

2 SubmittersRCV002926919

NM_000377.3(WAS):c.735-2A>T

SNV
Germline

ChrX:48688052

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412872030

rs_1602178800

1 SubmittersRCV003013605

NM_000377.3(WAS):c.361-1G>C

SNV
Germline

ChrX:48685733

Pathogenic

Thrombocytopenia 1
X-linked severe congenital neutropenia
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412867329

rs_2519280651

1 SubmittersRCV003051659

NM_000377.3(WAS):c.1166G>A (p.Gly389Asp)

SNV
Germline

ChrX:48688894

Conflicting classifications of pathogenicity

Condition: not provided
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

CA412873418

rs_868970795

3 SubmittersRCV003139309 RCV003778819

NM_000377.3(WAS):c.671A>G (p.Asp224Gly)

SNV
Germline

ChrX:48686892

Pathogenic/Likely pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA412870771

rs_2519283290

2 SubmittersRCV003152995 RCV006561106

NM_000377.3(WAS):c.104T>C (p.Leu35Pro)

SNV
Germline

ChrX:48683957

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412865777

rs_2519277671

1 SubmittersRCV003219202

NM_000377.3(WAS):c.632G>A (p.Arg211Gln)

SNV
Germline

ChrX:48686853

Conflicting classifications of pathogenicity

WAS-related disorder
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

CA10403962

rs_782584950

2 SubmittersRCV003412234 RCV003778205

NM_000377.3(WAS):c.38G>A (p.Arg13Gln)

SNV
Germline

ChrX:48683891

Conflicting classifications of pathogenicity

Condition: not provided
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

CA412865286

rs_1440423616

2 SubmittersRCV003438236 RCV003778454

NM_001375834.1(WIPF1):c.587C>G (p.Ser196Ter)

SNV
Germline

Chr2:174572218

Pathogenic

Wiskott-Aldrich syndrome 2

Criteria Provided
Single Submitter

CA349342727

rs_2468475708

1 SubmittersRCV003643830

NM_000377.3(WAS):c.1022C>T (p.Pro341Leu)

SNV
Germline

ChrX:48688750

Conflicting classifications of pathogenicity

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10404031

rs_782195195

2 SubmittersRCV003785859 RCV006368584

NM_000377.3(WAS):c.399G>T (p.Glu133Asp)

SNV
Germline

ChrX:48685772

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412867667

rs_2519280825

1 SubmittersRCV003783760

NM_000377.3(WAS):c.687G>T (p.Gly229=)

SNV
Germline

ChrX:48686908

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA516023304

rs_2147264930

1 SubmittersRCV003783764

NM_000377.3(WAS):c.1318C>T (p.Gln440Ter)

SNV
Germline

ChrX:48689046

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412873713

rs_1243089358

1 SubmittersRCV003783767

NM_000377.3(WAS):c.734+1G>C

SNV
Germline

ChrX:48686956

Pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Single Submitter

CA412871158

rs_2519283517

1 SubmittersRCV003797908

NM_000377.3(WAS):c.1244T>C (p.Leu415Pro)

SNV
Germline

ChrX:48688972

Conflicting classifications of pathogenicity

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10404058

rs_782115211

2 SubmittersRCV003780785 RCV006368587

NM_000377.3(WAS):c.524C>T (p.Pro175Leu)

SNV
Germline

ChrX:48686099

Conflicting classifications of pathogenicity

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Conflicting Classifications

CA10403941

rs_149932808

2 SubmittersRCV003787973

NM_000377.3(WAS):c.706G>A (p.Ala236Thr)

SNV
Germline

ChrX:48686927

Conflicting classifications of pathogenicity

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

CA10403968

rs_782415042

2 SubmittersRCV003793561

NM_000377.3(WAS):c.638G>A (p.Arg213His)

SNV
Germline

ChrX:48686859

Conflicting classifications of pathogenicity

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10403963

rs_782224455

2 SubmittersRCV003809117 RCV004676291

NM_000377.3(WAS):c.463+1G>A

SNV
Germline

ChrX:48685837

Likely pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

CA412868350

rs_2519281091

1 SubmittersRCV003801681

NM_000377.3(WAS):c.82C>T (p.Gln28Ter)

SNV
Germline

ChrX:48683935

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

CA412865612

rs_2519277606

1 SubmittersRCV003807543

NM_000377.3(WAS):c.1453+1G>A

SNV
Germline

ChrX:48689435

Pathogenic

WAS-related disorder
X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

CA412874028

rs_2519289166

2 SubmittersRCV003932228 RCV005220798

NM_000377.3(WAS):c.886G>A (p.Asp296Asn)

SNV
Germline

ChrX:48688408

Conflicting classifications of pathogenicity

Inborn genetic diseases
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Conflicting Classifications

CA412872391

rs_1186676831

3 SubmittersRCV004477872 RCV005040677

NM_000377.3(WAS):c.629C>G (p.Ser210Ter)

SNV
Germline

ChrX:48686850

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004797539

NM_000377.3(WAS):c.691A>T (p.Lys231Ter)

SNV
Germline

ChrX:48686912

Pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005041824

NM_000377.3(WAS):c.913C>T (p.Gln305Ter)

SNV
Germline

ChrX:48688435

Pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005041825

NM_001375834.1(WIPF1):c.373C>T (p.Arg125Ter)

SNV
Germline

Chr2:174572432

Pathogenic

Wiskott-Aldrich syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005173343

NM_000377.3(WAS):c.454C>T (p.Gln152Ter)

SNV
Germline

ChrX:48685827

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005211168

NM_000377.3(WAS):c.931+1G>C

SNV
Germline

ChrX:48688454

Pathogenic

Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Thrombocytopenia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005211169

NM_000377.3(WAS):c.1390G>T (p.Glu464Ter)

SNV
Germline

ChrX:48689371

Pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005223690

NM_000377.3(WAS):c.506-1G>C

SNV
Germline

ChrX:48686080

Likely pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

1 SubmittersRCV005215184

NM_000377.3(WAS):c.209G>T (p.Gly70Val)

SNV
Germline

ChrX:48684359

Likely pathogenic

X-linked severe congenital neutropenia
Thrombocytopenia 1
Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005213164

NM_000377.3(WAS):c.931+1G>A

SNV
Germline

ChrX:48688454

Pathogenic

Wiskott-Aldrich syndrome
Thrombocytopenia 1
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

1 SubmittersRCV005233163

NM_000377.3(WAS):c.331A>C (p.Thr111Pro)

SNV
Germline

ChrX:48685604

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005408119

NM_000377.3(WAS):c.343C>T (p.His115Tyr)

SNV
Germline

ChrX:48685616

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005408145

NM_000377.3(WAS):c.245C>T (p.Ser82Phe)

SNV
Germline

ChrX:48684395

Pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

1 SubmittersRCV005862049

NM_000377.3(WAS):c.355G>A (p.Gly119Arg)

SNV
Germline

ChrX:48685628

Pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006266522

NM_000377.3(WAS):c.777+1G>T

SNV
Germline

ChrX:48688097

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006269170

NM_000377.3(WAS):c.219C>A (p.Cys73Ter)

SNV
Germline

ChrX:48684369

Pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006272225

NM_000377.3(WAS):c.208G>A (p.Gly70Arg)

SNV
Germline

ChrX:48684358

Likely pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

1 SubmittersRCV006598514

NM_000377.3(WAS):c.756G>A (p.Trp252Ter)

SNV
Germline

ChrX:48688075

Pathogenic

Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Single Submitter

1 SubmittersRCV006598517