List of variants reported as pathogenic for phagocytic cell dysfunction by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 82

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000250.2(MPO):c.995C>T (p.Ala332Val)	rs28730837	0.01134
NM_000250.2(MPO):c.752T>C (p.Met251Thr)	rs56378716	0.00954
NM_000250.2(MPO):c.2031-2A>C	rs35897051	0.00472
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)	rs119468010	0.00173
NM_000250.2(MPO):c.518A>G (p.Tyr173Cys)	rs78950939	0.00051
NM_000178.4(GSS):c.373C>T (p.Arg125Cys)	rs28936396	0.00029
NM_000631.5(NCF4):c.118-1G>A	rs28445840	0.00006
NM_000631.5(NCF4):c.759-1G>C	rs200347935	0.00006
NM_000178.4(GSS):c.491G>A (p.Arg164Gln)	rs121909307	0.00004
NM_000631.5(NCF4):c.314G>A (p.Arg105Gln)	rs387906808	0.00003
NM_000178.4(GSS):c.799C>T (p.Arg267Trp)	rs121909308	0.00002
NM_000433.4(NCF2):c.304C>T (p.Arg102Ter)	rs374402066	0.00002
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg)	rs28941476	0.00001
NM_000101.4(CYBA):c.7C>T (p.Gln3Ter)	rs104894511	0.00001
NM_000178.4(GSS):c.656A>G (p.Asp219Gly)	rs28938472	0.00001
NM_000178.4(GSS):c.847C>T (p.Arg283Cys)	rs121909309	0.00001
NM_000250.2(MPO):c.1495C>T (p.Arg499Cys)	rs119469014	0.00001
NM_000250.2(MPO):c.1501G>A (p.Gly501Ser)	rs119469013	0.00001
NM_000265.7(NCF1):c.125G>A (p.Arg42Gln)	rs119103270	0.00001
NM_000265.7(NCF1):c.574G>A (p.Gly192Ser)	rs119103273	0.00001
NM_000397.4(CYBB):c.676C>T (p.Arg226Ter)	rs137854592	0.00001
NM_000433.4(NCF2):c.230G>A (p.Arg77Gln)	rs119103275	0.00001
NM_000433.4(NCF2):c.366+1G>A	rs796065032	0.00001
NM_000433.4(NCF2):c.383C>T (p.Ala128Val)	rs119103274	0.00001
NM_001033046.4(CYBC1):c.127G>A (p.Asp43Asn)	rs1166871048	0.00001
NC_000016.10:g.(?_88638115)(88648115_88650955)del
NG_009065.1:g.16964_16965insLINE1
NM_000101.4(CYBA):c.246del (p.Phe83fs)	rs1439134665
NM_000101.4(CYBA):c.269G>A (p.Arg90Gln)	rs104894513
NM_000101.4(CYBA):c.281A>G (p.His94Arg)	rs104894510
NM_000101.4(CYBA):c.287+1G>A	rs1567609091
NM_000101.4(CYBA):c.288-13_310del	rs1907271302
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg)	rs104894514
NM_000101.4(CYBA):c.373G>A (p.Ala125Thr)	rs119103269
NM_000101.4(CYBA):c.467C>A (p.Pro156Gln)	rs104894515
NM_000178.4(GSS):c.4del (p.Ala2fs)	rs752560204
NM_000178.4(GSS):c.[1139_1144del;941C>T]
NM_000250.2(MPO):c.1555_1568del (p.Met519fs)	rs536522394
NM_000250.2(MPO):c.1715T>G (p.Leu572Trp)	rs119469012
NM_000265.7(NCF1):c.271C>T (p.Gln91Ter)	rs119103271
NM_000265.7(NCF1):c.333T>A (p.Cys111Ter)	rs119103272
NM_000265.7(NCF1):c.502del (p.Glu168fs)	rs1563003964
NM_000265.7(NCF1):c.75_76del (p.Tyr26fs)	rs4029402
NM_000265.7(NCF1):c.811del (p.Val271fs)	rs1307080411
NM_000397.4(CYBB):c.1166G>C (p.Gly389Ala)	rs137854586
NM_000397.4(CYBB):c.1244C>A (p.Pro415His)	rs137854585
NM_000397.4(CYBB):c.1462-2A>G	rs2146821097
NM_000397.4(CYBB):c.1499A>G (p.Asp500Gly)	rs137854593
NM_000397.4(CYBB):c.217C>T (p.Arg73Ter)	rs137854588
NM_000397.4(CYBB):c.252+5G>A	rs1602175016
NM_000397.4(CYBB):c.252G>A (p.Ala84=)	rs387906485
NM_000397.4(CYBB):c.301C>T (p.His101Tyr)	rs137854594
NM_000397.4(CYBB):c.302A>G (p.His101Arg)	rs137854591
NM_000397.4(CYBB):c.45+6T>C	rs1569478551
NM_000397.4(CYBB):c.466G>A (p.Ala156Thr)	rs137854590
NM_000397.4(CYBB):c.483+979G>T	rs2146810847
NM_000397.4(CYBB):c.625C>T (p.His209Tyr)	rs137854587
NM_000397.4(CYBB):c.731G>C (p.Cys244Ser)	rs137854589
NM_000397.4(CYBB):c.907C>A (p.His303Asn)	rs137854595
NM_000397.4(CYBB):c.90_92delinsGGT (p.Tyr30_Arg31delinsTer)	rs387906486
NM_000397.4(CYBB):c.911C>G (p.Pro304Arg)	rs137854596
NM_000397.4:c.484-262_484-261insLINE1
NM_000433.3(NCF2):c.[479A>T;481A>G]
NM_000433.4(NCF2):c.1171_1175del (p.Lys391fs)	rs796065031
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp)	rs13306575
NM_000433.4(NCF2):c.298C>T (p.Gln100Ter)	rs119103276
NM_000433.4(NCF2):c.399_400dup (p.Lys134fs)	rs796065030
NM_000433.4(NCF2):c.55_63del (p.Lys19_Asp21del)	rs796065033
NM_000631.5(NCF4):c.143_152del (p.Lys48fs)	rs876657377
NM_000631.5(NCF4):c.32+2T>G	rs1601543670
NM_000631.5(NCF4):c.716G>A (p.Trp239Ter)	rs1940176752
NM_001033046.4(CYBC1):c.6C>G (p.Tyr2Ter)	rs778180128
NM_001098426.2(SMARCD2):c.1181+1G>A	rs1057518731
NM_001098426.2(SMARCD2):c.401+2T>C	rs1057518733
NM_001098426.2(SMARCD2):c.414_438dup (p.Gln147delinsGluAspGlyArgTer)	rs1555580263
NM_001098426.2(SMARCD2):c.511C>T (p.Gln171Ter)	rs2144633398
NM_001098426.2(SMARCD2):c.93del (p.Ala32fs)	rs1379892630
NM_001805.4(CEBPE):c.249_253del (p.Asp84fs)	rs2140292116
NM_001805.4(CEBPE):c.403C>T (p.Arg135Ter)	rs775036569
NM_001805.4(CEBPE):c.509dup (p.Ala171fs)	rs2140291802
NM_001805.4(CEBPE):c.655_665del (p.Lys220fs)	rs2501817698
NM_001805.4(CEBPE):c.742_747del (p.Ser248_Arg249del)	rs2501817429

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.