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 Thrombocytopenia 1 X-linked severe congenital neutropenia Wiskott-Aldrich syndrome	Criteria Provided Multiple Submitters No Conflicts	CA341003	rs_132630268	8 SubmittersRCV000011864 RCV000414284 RCV000633305
NM_000377.3(WAS):c.167C>T (p.Ala56Val)	SNV Germline	ChrX:48684317	Pathogenic	Thrombocytopenia 1 Wiskott-Aldrich syndrome Condition: not provided Thrombocytopenia 1 X-linked severe congenital neutropenia Wiskott-Aldrich syndrome	Criteria Provided Multiple Submitters No Conflicts	CA255723	rs_132630269	5 SubmittersRCV000011865 RCV002243636 RCV001563489 RCV003764557
NM_000377.3(WAS):c.100C>T (p.Arg34Ter)	SNV Germline	ChrX:48683953	Pathogenic	Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome Thrombocytopenia 1 X-linked severe congenital neutropenia	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 X-linked severe congenital neutropenia Wiskott-Aldrich syndrome Thrombocytopenia 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255728	rs_132630273	7 SubmittersRCV000011872 RCV000851684 RCV001037597 RCV001172206
NM_000377.3(WAS):c.809T>C (p.Leu270Pro)	SNV Germline	ChrX:48688331	Pathogenic/Likely pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 X-linked severe congenital neutropenia Wiskott-Aldrich syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA280988	rs_132630274	3 SubmittersRCV000011874 RCV001851800 RCV001291553
NM_000377.3(WAS):c.560-1G>A	SNV Germline	ChrX:48686780	Pathogenic	Wiskott-Aldrich syndrome	No Assertion Criteria Provided		rs_1602178087	1 SubmittersRCV000011880
NM_000377.3(WAS):c.559+2T>G	SNV Germline	ChrX:48686136	Pathogenic	Wiskott-Aldrich syndrome	No Assertion Criteria Provided		rs_1602177733	1 SubmittersRCV000011881
NM_000377.3(WAS):c.881T>C (p.Ile294Thr)	SNV Germline	ChrX:48688403	Pathogenic/Likely pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Condition: not provided WAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA281104	rs_387906717	8 SubmittersRCV000022859 RCV001058962 RCV001268500 RCV003407355
NM_001375834.1(WIPF1):c.1301C>G (p.Ser434Ter)	SNV Germline	Chr2:174567902	Pathogenic	Wiskott-Aldrich syndrome 2	No Assertion Criteria Provided		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	4 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 Thrombocytopenia 1 Wiskott-Aldrich syndrome 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	10 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 Wiskott-Aldrich syndrome Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Condition: not provided	Criteria Provided Conflicting Classifications	CA162686	rs_139265251	4 SubmittersRCV000122269 RCV001261849 RCV000862741 RCV003436938
NM_000377.3(WAS):c.285G>A (p.Leu95=)	SNV Germline	ChrX:48685558	Conflicting classifications of pathogenicity	Condition: not provided Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia not specified	Criteria Provided Conflicting Classifications	CA243149	rs_781799471	3 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	Criteria Provided Conflicting Classifications	CA1974200	rs_138276021	3 SubmittersRCV000238882 RCV000911281 RCV002518507
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	Criteria Provided Multiple Submitters No Conflicts	CA10403870	rs_782290433	5 SubmittersRCV000255132 RCV000589566 RCV000768136
NM_000377.3(WAS):c.264C>T (p.Tyr88=)	SNV Germline	ChrX:48684414	Conflicting classifications of pathogenicity	Condition: not provided X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome 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 Thrombocytopenia 1 X-linked severe congenital neutropenia Wiskott-Aldrich syndrome Thrombocytopenia 1 Inborn genetic diseases Wiskott-Aldrich syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16043277	rs_1057517845	6 SubmittersRCV000413782 RCV000461952 RCV003137992 RCV004022160 RCV001290558
NM_000377.3(WAS):c.559+5G>A	SNV Germline	ChrX:48686139	Pathogenic	Condition: not provided Wiskott-Aldrich syndrome Thrombocytopenia 1 X-linked severe congenital neutropenia Wiskott-Aldrich syndrome Thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts	CA16043320	rs_886039451	4 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.1453G>A (p.Asp485Asn)	SNV Germline	ChrX:48689434	Pathogenic	Condition: not provided Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16621420	rs_1064793293	5 SubmittersRCV000482823 RCV000780796 RCV001038563
NM_000377.3(WAS):c.1080A>C (p.Pro360=)	SNV Germline	ChrX:48688808	Conflicting classifications of pathogenicity	not specified Condition: not provided Thrombocytopenia 1 X-linked severe congenital neutropenia Wiskott-Aldrich syndrome	Criteria Provided Conflicting Classifications	CA516356386	rs_1409607754	3 SubmittersRCV000501304 RCV003326446 RCV003766858
NM_000377.3(WAS):c.778-6G>A	SNV Germline	ChrX:48688294	Pathogenic	Condition: not provided Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	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 Thrombocytopenia 1 Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome	Criteria Provided Multiple Submitters No Conflicts	CA412872755	rs_1557007123	3 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	5 SubmittersRCV000560718 RCV001796117 RCV003952837
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 Thrombocytopenia 1 Wiskott-Aldrich syndrome	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	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome Condition: not provided Wiskott-Aldrich syndrome	Criteria Provided Multiple Submitters No Conflicts	CA412865672	rs_1557006239	3 SubmittersRCV000633307 RCV000657918 RCV003991033
NM_000377.3(WAS):c.1455C>T (p.Asp485=)	SNV Germline	ChrX:48691108	Conflicting classifications of pathogenicity	Condition: not provided X-linked severe congenital neutropenia Wiskott-Aldrich syndrome Thrombocytopenia 1	Criteria Provided Conflicting Classifications		rs_35359501	2 SubmittersRCV000659159 RCV002060788
NM_000377.3(WAS):c.360+1G>C	SNV Germline	ChrX:48685634	Pathogenic	Wiskott-Aldrich syndrome	No Assertion Criteria Provided		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		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		rs_132630268	1 SubmittersRCV000780795
NM_000377.3(WAS):c.735-2A>G	SNV Germline	ChrX:48688052	Pathogenic	Wiskott-Aldrich syndrome	No Assertion Criteria Provided		rs_1602178800	1 SubmittersRCV000791261
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	Criteria Provided Conflicting Classifications		rs_139857045	2 SubmittersRCV000812382 RCV003480857
NM_000377.3(WAS):c.355G>T (p.Gly119Ter)	SNV Germline	ChrX:48685628	Pathogenic	Thrombocytopenia 1 X-linked severe congenital neutropenia Wiskott-Aldrich syndrome	Criteria Provided Single Submitter		rs_1602177243	1 SubmittersRCV000818272
NM_000377.3(WAS):c.631C>T (p.Arg211Ter)	SNV Germline	ChrX:48686852	Pathogenic	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1602178165	2 SubmittersRCV000802424 RCV002067393
NM_000377.3(WAS):c.1181C>T (p.Pro394Leu)	SNV Germline	ChrX:48688909	Conflicting classifications of pathogenicity	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia not specified	Criteria Provided Conflicting Classifications		rs_373524969	2 SubmittersRCV000865882 RCV001816974
NM_000377.3(WAS):c.1049C>T (p.Ala350Val)	SNV Germline	ChrX:48688777	Conflicting classifications of pathogenicity	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Inborn genetic diseases	Criteria Provided Conflicting Classifications		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 Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Conflicting Classifications		rs_201657175	2 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		rs_141730361	3 SubmittersRCV001049693 RCV002553208
NM_000377.3(WAS):c.70T>C (p.Ser24Pro)	SNV Germline	ChrX:48683923	Likely pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Single Submitter		rs_2062410722	1 SubmittersRCV001035433
NM_000377.3(WAS):c.172C>A (p.Pro58Thr)	SNV Germline	ChrX:48684322	Pathogenic	Thrombocytopenia 1 X-linked severe congenital neutropenia Wiskott-Aldrich syndrome	Criteria Provided Single Submitter		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 Single Submitter		rs_2062412730	1 SubmittersRCV001058741
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter)	SNV Germline	ChrX:48688818	Pathogenic	Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2062429013	4 SubmittersRCV001041620 RCV001091017
NM_000377.3(WAS):c.397G>A (p.Glu133Lys)	SNV Germline	ChrX:48685770	Conflicting classifications of pathogenicity	Wiskott-Aldrich syndrome	Criteria Provided Conflicting Classifications		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 Multiple Submitters No Conflicts		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		rs_2062412197	1 SubmittersRCV001204405
NM_000377.3(WAS):c.256C>T (p.Arg86Cys)	SNV Germline	ChrX:48684406	Pathogenic	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome WAS-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_2062412810	3 SubmittersRCV001205113 RCV001328370 RCV003938561
NM_001375834.1(WIPF1):c.709C>T (p.Gln237Ter)	SNV Germline	Chr2:174572096	Pathogenic	Wiskott-Aldrich syndrome 2	No Assertion Criteria Provided		rs_1684878263	1 SubmittersRCV001253818
NM_000377.3(WAS):c.374G>A (p.Gly125Glu)	SNV Unknown	ChrX:48685747	Likely pathogenic	Wiskott-Aldrich syndrome	Criteria Provided Single Submitter		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		rs_2147262951	1 SubmittersRCV001379030
NM_000377.3(WAS):c.1453+2T>G	SNV Germline	ChrX:48689436	Pathogenic	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Single Submitter		rs_2147267350	1 SubmittersRCV001387958
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu)	SNV Germline	ChrX:48689008	Conflicting classifications of pathogenicity	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782307200	3 SubmittersRCV001422797 RCV002555114
NM_000377.3(WAS):c.206G>C (p.Cys69Ser)	SNV Germline	ChrX:48684356	Conflicting classifications of pathogenicity	Condition: not provided X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome WAS-related disorder	Criteria Provided Conflicting Classifications		rs_374283590	3 SubmittersRCV001725810 RCV002073401 RCV003401658
NM_000377.3(WAS):c.1150C>T (p.Pro384Ser)	SNV Germline	ChrX:48688878	Conflicting classifications of pathogenicity	not specified Thrombocytopenia 1 X-linked severe congenital neutropenia Wiskott-Aldrich syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_782761074	4 SubmittersRCV001817169 RCV002489869 RCV003883705
NM_000377.3(WAS):c.192G>A (p.Trp64Ter)	SNV Germline	ChrX:48684342	Pathogenic	Condition: not provided Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts		rs_2147262855	2 SubmittersRCV001817745 RCV002542702
NM_000377.3(WAS):c.373G>C (p.Gly125Arg)	SNV Germline	ChrX:48685746	Likely pathogenic	X-linked severe congenital neutropenia Wiskott-Aldrich syndrome Thrombocytopenia 1	Criteria Provided Single Submitter		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		rs_782636781	3 SubmittersRCV001890157 RCV002552265
NM_000377.3(WAS):c.803G>A (p.Arg268Gln)	SNV Germline	ChrX:48688325	Conflicting classifications of pathogenicity	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome	Criteria Provided Conflicting Classifications		rs_376560886	2 SubmittersRCV001965751
NM_000377.3(WAS):c.382T>C (p.Phe128Leu)	SNV Germline	ChrX:48685755	Pathogenic	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Single Submitter		rs_2147263906	1 SubmittersRCV001928082
NM_000377.3(WAS):c.1339-2A>G	SNV Germline	ChrX:48689318	Pathogenic/Likely pathogenic	Wiskott-Aldrich syndrome Thrombocytopenia 1 X-linked severe congenital neutropenia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		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		rs_2147265861	1 SubmittersRCV002052149
NM_000377.3(WAS):c.128G>A (p.Cys43Tyr)	SNV Germline	ChrX:48683981	Likely pathogenic	Wiskott-Aldrich syndrome	No Assertion Criteria Provided		rs_2147262523	1 SubmittersRCV002245338
NM_000377.3(WAS):c.16A>G (p.Met6Val)	SNV Germline	ChrX:48683869	Conflicting classifications of pathogenicity	not specified Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1	Criteria Provided Conflicting Classifications		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 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Multiple Submitters No Conflicts			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			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			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			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			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			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			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			1 SubmittersRCV002871544
NM_000377.3(WAS):c.765G>C (p.Gln255His)	SNV Germline	ChrX:48688084	Conflicting classifications of pathogenicity	X-linked severe congenital neutropenia Thrombocytopenia 1 Wiskott-Aldrich syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV002933443 RCV002952500
NM_000377.3(WAS):c.735-2A>T	SNV Germline	ChrX:48688052	Pathogenic	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Single Submitter			1 SubmittersRCV003013605
NM_000377.3(WAS):c.361-1G>C	SNV Germline	ChrX:48685733	Pathogenic	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Single Submitter			1 SubmittersRCV003051659
NM_000377.3(WAS):c.1166G>A (p.Gly389Asp)	SNV Germline	ChrX:48688894	Conflicting classifications of pathogenicity	Condition: not provided Wiskott-Aldrich syndrome X-linked severe congenital neutropenia Thrombocytopenia 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV003139309 RCV003778819
NM_000377.3(WAS):c.671A>G (p.Asp224Gly)	SNV Unknown	ChrX:48686892	Likely pathogenic	Wiskott-Aldrich syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003152995
NM_000377.3(WAS):c.104T>C (p.Leu35Pro)	SNV Germline	ChrX:48683957	Likely pathogenic	Wiskott-Aldrich syndrome	Criteria Provided Single Submitter			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			2 SubmittersRCV003412234 RCV003778205
NM_000377.3(WAS):c.38G>A (p.Arg13Gln)	SNV Germline	ChrX:48683891	Conflicting classifications of pathogenicity	Condition: not provided Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Conflicting Classifications			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			1 SubmittersRCV003643830
NM_000377.3(WAS):c.399G>T (p.Glu133Asp)	SNV Germline	ChrX:48685772	Pathogenic	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Single Submitter			1 SubmittersRCV003783760
NM_000377.3(WAS):c.1318C>T (p.Gln440Ter)	SNV Germline	ChrX:48689046	Pathogenic	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Single Submitter			1 SubmittersRCV003783767
NM_000377.3(WAS):c.734+1G>C	SNV Germline	ChrX:48686956	Pathogenic	Thrombocytopenia 1 Wiskott-Aldrich syndrome X-linked severe congenital neutropenia	Criteria Provided Single Submitter			1 SubmittersRCV003797908
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			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			1 SubmittersRCV003807543

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

Criteria Provided
Multiple Submitters
No Conflicts

CA341003

rs_132630268

8 SubmittersRCV000011864 RCV000414284 RCV000633305

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

SNV
Germline

ChrX:48684317

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA255723

rs_132630269

5 SubmittersRCV000011865 RCV002243636 RCV001563489 RCV003764557

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

SNV
Germline

ChrX:48683953

Pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA255728

rs_132630273

7 SubmittersRCV000011872 RCV000851684 RCV001037597 RCV001172206

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

SNV
Germline

ChrX:48688331

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA280988

rs_132630274

3 SubmittersRCV000011874 RCV001851800 RCV001291553

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

SNV
Germline

ChrX:48686780

Pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

rs_1602178087

1 SubmittersRCV000011880

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

SNV
Germline

ChrX:48686136

Pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

rs_1602177733

1 SubmittersRCV000011881

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

SNV
Germline

ChrX:48688403

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA281104

rs_387906717

8 SubmittersRCV000022859 RCV001058962 RCV001268500 RCV003407355

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

SNV
Germline

Chr2:174567902

Pathogenic

Wiskott-Aldrich syndrome 2

No Assertion Criteria Provided

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

4 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
Thrombocytopenia 1
Wiskott-Aldrich syndrome
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

10 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
Wiskott-Aldrich syndrome
Thrombocytopenia 1
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA162686

rs_139265251

4 SubmittersRCV000122269 RCV001261849 RCV000862741 RCV003436938

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

SNV
Germline

ChrX:48685558

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA243149

rs_781799471

3 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

Criteria Provided
Conflicting Classifications

CA1974200

rs_138276021

3 SubmittersRCV000238882 RCV000911281 RCV002518507

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10403870

rs_782290433

5 SubmittersRCV000255132 RCV000589566 RCV000768136

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

SNV
Germline

ChrX:48684414

Conflicting classifications of pathogenicity

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16043277

rs_1057517845

6 SubmittersRCV000413782 RCV000461952 RCV003137992 RCV004022160 RCV001290558

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

SNV
Germline

ChrX:48686139

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16043320

rs_886039451

4 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.1453G>A (p.Asp485Asn)

SNV
Germline

ChrX:48689434

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16621420

rs_1064793293

5 SubmittersRCV000482823 RCV000780796 RCV001038563

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

SNV
Germline

ChrX:48688808

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA516356386

rs_1409607754

3 SubmittersRCV000501304 RCV003326446 RCV003766858

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

SNV
Germline

ChrX:48688294

Pathogenic

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

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
Thrombocytopenia 1
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA412872755

rs_1557007123

3 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

5 SubmittersRCV000560718 RCV001796117 RCV003952837

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
Thrombocytopenia 1
Wiskott-Aldrich syndrome

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA412865672

rs_1557006239

3 SubmittersRCV000633307 RCV000657918 RCV003991033

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

SNV
Germline

ChrX:48691108

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_35359501

2 SubmittersRCV000659159 RCV002060788

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

SNV
Germline

ChrX:48685634

Pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

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

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

rs_132630268

1 SubmittersRCV000780795

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

SNV
Germline

ChrX:48688052

Pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

rs_1602178800

1 SubmittersRCV000791261

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

Criteria Provided
Conflicting Classifications

rs_139857045

2 SubmittersRCV000812382 RCV003480857

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

SNV
Germline

ChrX:48685628

Pathogenic

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

Criteria Provided
Single Submitter

rs_1602177243

1 SubmittersRCV000818272

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

SNV
Germline

ChrX:48686852

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1602178165

2 SubmittersRCV000802424 RCV002067393

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

SNV
Germline

ChrX:48688909

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_373524969

2 SubmittersRCV000865882 RCV001816974

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

SNV
Germline

ChrX:48688777

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_201657175

2 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

rs_141730361

3 SubmittersRCV001049693 RCV002553208

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

SNV
Germline

ChrX:48683923

Likely pathogenic

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

Criteria Provided
Single Submitter

rs_2062410722

1 SubmittersRCV001035433

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

SNV
Germline

ChrX:48684322

Pathogenic

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

Criteria Provided
Single Submitter

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
Single Submitter

rs_2062412730

1 SubmittersRCV001058741

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

SNV
Germline

ChrX:48688818

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2062429013

4 SubmittersRCV001041620 RCV001091017

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

SNV
Germline

ChrX:48685770

Conflicting classifications of pathogenicity

Wiskott-Aldrich syndrome

Criteria Provided
Conflicting Classifications

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
Multiple Submitters
No Conflicts

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

rs_2062412197

1 SubmittersRCV001204405

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

SNV
Germline

ChrX:48684406

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2062412810

3 SubmittersRCV001205113 RCV001328370 RCV003938561

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

SNV
Germline

Chr2:174572096

Pathogenic

Wiskott-Aldrich syndrome 2

No Assertion Criteria Provided

rs_1684878263

1 SubmittersRCV001253818

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

SNV
Unknown

ChrX:48685747

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

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

rs_2147262951

1 SubmittersRCV001379030

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

SNV
Germline

ChrX:48689436

Pathogenic

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

Criteria Provided
Single Submitter

rs_2147267350

1 SubmittersRCV001387958

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

SNV
Germline

ChrX:48689008

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782307200

3 SubmittersRCV001422797 RCV002555114

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

SNV
Germline

ChrX:48684356

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_374283590

3 SubmittersRCV001725810 RCV002073401 RCV003401658

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

SNV
Germline

ChrX:48688878

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_782761074

4 SubmittersRCV001817169 RCV002489869 RCV003883705

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

SNV
Germline

ChrX:48684342

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147262855

2 SubmittersRCV001817745 RCV002542702

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

SNV
Germline

ChrX:48685746

Likely pathogenic

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

Criteria Provided
Single Submitter

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

rs_782636781

3 SubmittersRCV001890157 RCV002552265

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

SNV
Germline

ChrX:48688325

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_376560886

2 SubmittersRCV001965751

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

SNV
Germline

ChrX:48685755

Pathogenic

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

Criteria Provided
Single Submitter

rs_2147263906

1 SubmittersRCV001928082

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

SNV
Germline

ChrX:48689318

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_2147265861

1 SubmittersRCV002052149

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

SNV
Germline

ChrX:48683981

Likely pathogenic

Wiskott-Aldrich syndrome

No Assertion Criteria Provided

rs_2147262523

1 SubmittersRCV002245338

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

SNV
Germline

ChrX:48683869

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

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

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

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

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

1 SubmittersRCV002871544

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

SNV
Germline

ChrX:48688084

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002933443 RCV002952500

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

SNV
Germline

ChrX:48688052

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003013605

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

SNV
Germline

ChrX:48685733

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003051659

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

SNV
Germline

ChrX:48688894

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003139309 RCV003778819

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

SNV
Unknown

ChrX:48686892

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003152995

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

SNV
Germline

ChrX:48683957

Likely pathogenic

Wiskott-Aldrich syndrome

Criteria Provided
Single Submitter

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

2 SubmittersRCV003412234 RCV003778205

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

SNV
Germline

ChrX:48683891

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

1 SubmittersRCV003643830

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

SNV
Germline

ChrX:48685772

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003783760

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

SNV
Germline

ChrX:48689046

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003783767

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

SNV
Germline

ChrX:48686956

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003797908

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

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

1 SubmittersRCV003807543