List of variants reported as pathogenic for Granulomatous disease, chronic, X-linked by Labcorp Genetics (formerly Invitae), Labcorp

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: 100

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000397.4(CYBB):c.676C>T (p.Arg226Ter)	rs137854592	0.00001
NC_000023.10:g.(?_37545215)_(37664441_?)del
NC_000023.10:g.(?_37545215)_(37670170_?)del
NC_000023.10:g.(?_37639262)_(37660621_?)del
NC_000023.10:g.(?_37658188)_(37670170_?)del
NC_000023.11:g.(?_37780009)_(37782203_?)del
NC_000023.11:g.(?_37780009)_(37783620_?)del
NC_000023.11:g.(?_37780009)_(37810937_?)del
NC_000023.11:g.(?_37780009)_(38421102_?)del
NM_000397.4(CYBB):c.1010G>A (p.Trp337Ter)	rs1929500338
NM_000397.4(CYBB):c.1011G>A (p.Trp337Ter)	rs1569479943
NM_000397.4(CYBB):c.1012C>T (p.His338Tyr)	rs151344484
NM_000397.4(CYBB):c.1014C>G (p.His338Gln)
NM_000397.4(CYBB):c.1016C>A (p.Pro339His)	rs151344470
NM_000397.4(CYBB):c.1038del (p.Glu347fs)
NM_000397.4(CYBB):c.1082G>A (p.Trp361Ter)	rs2146817207
NM_000397.4(CYBB):c.1121del (p.Gln374fs)
NM_000397.4(CYBB):c.1139_1140delinsAA (p.Trp380Ter)	rs2146817260
NM_000397.4(CYBB):c.1140dup (p.Lys381fs)	rs193922445
NM_000397.4(CYBB):c.1150_1151+2del
NM_000397.4(CYBB):c.1151+1G>A	rs2146817275
NM_000397.4(CYBB):c.11G>A (p.Trp4Ter)
NM_000397.4(CYBB):c.1222G>A (p.Gly408Arg)	rs151344473
NM_000397.4(CYBB):c.1234G>A (p.Gly412Arg)
NM_000397.4(CYBB):c.1237dup (p.Val413fs)	rs1569480031
NM_000397.4(CYBB):c.123C>G (p.Tyr41Ter)	rs1928965653
NM_000397.4(CYBB):c.1244C>A (p.Pro415His)	rs137854585
NM_000397.4(CYBB):c.1244C>T (p.Pro415Leu)	rs137854585
NM_000397.4(CYBB):c.1245del (p.Phe416fs)	rs1929531349
NM_000397.4(CYBB):c.12G>A (p.Trp4Ter)	rs2146801959
NM_000397.4(CYBB):c.1313dup (p.Ile439fs)	rs1602183698
NM_000397.4(CYBB):c.1314+1G>A	rs2146818103
NM_000397.4(CYBB):c.1315-1G>A	rs1556471620
NM_000397.4(CYBB):c.1315-1G>C	rs1556471620
NM_000397.4(CYBB):c.1320C>G (p.Tyr440Ter)	rs200129367
NM_000397.4(CYBB):c.1328G>A (p.Trp443Ter)
NM_000397.4(CYBB):c.141+1G>C	rs1556464581
NM_000397.4(CYBB):c.141+1del	rs1928965951
NM_000397.4(CYBB):c.1414_1420del (p.Gly472fs)
NM_000397.4(CYBB):c.1466_1467del (p.Asn489fs)	rs1569480333
NM_000397.4(CYBB):c.1498G>T (p.Asp500Tyr)
NM_000397.4(CYBB):c.1500T>G (p.Asp500Glu)
NM_000397.4(CYBB):c.1519C>T (p.Gln507Ter)	rs2146821175
NM_000397.4(CYBB):c.1546T>A (p.Trp516Arg)
NM_000397.4(CYBB):c.1586+1G>A
NM_000397.4(CYBB):c.1609T>C (p.Cys537Arg)	rs151344454
NM_000397.4(CYBB):c.1629_1630delinsCT (p.Glu544Ter)	rs2146822029
NM_000397.4(CYBB):c.1645C>T (p.Gln549Ter)	rs1929658430
NM_000397.4(CYBB):c.1673del (p.Pro558fs)	rs2146822068
NM_000397.4(CYBB):c.1689del (p.Phe563fs)	rs1602186299
NM_000397.4(CYBB):c.1702G>A (p.Glu568Lys)	rs1556473119
NM_000397.4(CYBB):c.170C>A (p.Ala57Glu)	rs151344481
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.271C>T (p.Arg91Ter)	rs886041192
NM_000397.4(CYBB):c.318G>A (p.Trp106Ter)
NM_000397.4(CYBB):c.37_45+2del	rs1556464116
NM_000397.4(CYBB):c.388C>T (p.Arg130Ter)	rs180899069
NM_000397.4(CYBB):c.389G>C (p.Arg130Pro)	rs193922448
NM_000397.4(CYBB):c.3G>A (p.Met1Ile)	rs2146801939
NM_000397.4(CYBB):c.40del (p.Val14fs)
NM_000397.4(CYBB):c.446del (p.Asn149fs)	rs1929244686
NM_000397.4(CYBB):c.45+1G>T
NM_000397.4(CYBB):c.45+2dup
NM_000397.4(CYBB):c.45+6T>C	rs1569478551
NM_000397.4(CYBB):c.46-2A>T	rs2146803092
NM_000397.4(CYBB):c.466G>A (p.Ala156Thr)	rs137854590
NM_000397.4(CYBB):c.469C>T (p.Arg157Ter)	rs886039335
NM_000397.4(CYBB):c.483+1G>A	rs1131691828
NM_000397.4(CYBB):c.525dup (p.Gly176fs)
NM_000397.4(CYBB):c.565del (p.Ile189fs)	rs2146811730
NM_000397.4(CYBB):c.58G>A (p.Gly20Arg)	rs151344455
NM_000397.4(CYBB):c.603C>G (p.Tyr201Ter)	rs2146811786
NM_000397.4(CYBB):c.607G>T (p.Glu203Ter)	rs193922449
NM_000397.4(CYBB):c.643TTC[1] (p.Phe216del)	rs1929302971
NM_000397.4(CYBB):c.665A>G (p.His222Arg)	rs151344462
NM_000397.4(CYBB):c.666T>A (p.His222Gln)	rs2146811863
NM_000397.4(CYBB):c.674+1G>A	rs1929304640
NM_000397.4(CYBB):c.675-2A>G	rs2146813622
NM_000397.4(CYBB):c.693_694del (p.Gln231fs)	rs1929376118
NM_000397.4(CYBB):c.703_704del (p.Ser235fs)
NM_000397.4(CYBB):c.736C>T (p.Gln246Ter)	rs782756433
NM_000397.4(CYBB):c.742dup (p.Ile248fs)	rs886041194
NM_000397.4(CYBB):c.755del (p.Gly252fs)
NM_000397.4(CYBB):c.75del (p.Phe26fs)
NM_000397.4(CYBB):c.781C>T (p.Gln261Ter)	rs1556469197
NM_000397.4(CYBB):c.80_83del (p.Val27fs)	rs1556464554
NM_000397.4(CYBB):c.840T>A (p.Tyr280Ter)	rs1929432929
NM_000397.4(CYBB):c.840T>G (p.Tyr280Ter)	rs1929432929
NM_000397.4(CYBB):c.866G>A (p.Trp289Ter)
NM_000397.4(CYBB):c.868C>T (p.Arg290Ter)	rs886039337
NM_000397.4(CYBB):c.886del (p.Val296fs)
NM_000397.4(CYBB):c.906_909del (p.His303fs)	rs1929497736
NM_000397.4(CYBB):c.921_931del (p.Ile308fs)	rs2146817045
NM_000397.4(CYBB):c.925G>A (p.Glu309Lys)	rs151344466
NM_000397.4(CYBB):c.960del (p.Val321fs)	rs1556470775
NM_000397.4(CYBB):c.965G>A (p.Gly322Glu)	rs151344467
NM_000397.4(CYBB):c.978del (p.Phe326fs)	rs2146817094
NM_000397.4(CYBB):c.987C>A (p.Cys329Ter)	rs1929499524

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.