ClinVar for MedGen (Select 336165) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24981961.	NM_000397.4(CYBB):c.766del (p.Glu256fs) GRCh37: ChrX:37658298 GRCh38: ChrX:37799045	CYBB	E256fs	Granulomatous disease, chronic, X-linked	Pathogenic (Aug 19, 2022)	criteria provided, single submitter
Select item 24463622.	NM_000397.4(CYBB):c.1151+6T>A GRCh37: ChrX:37663389 GRCh38: ChrX:37804136	CYBB		Granulomatous disease, chronic, X-linked	Pathogenic	no assertion criteria provided
Select item 24442643.	NM_000397.4(CYBB):c.1060C>T (p.His354Tyr) GRCh37: ChrX:37663292 GRCh38: ChrX:37804039	CYBB	H354Y	Granulomatous disease, chronic, X-linked	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24317834.	NM_000397.4(CYBB):c.66C>G (p.Asn22Lys) GRCh37: ChrX:37641361 GRCh38: ChrX:37782108	CYBB	N22K	Granulomatous disease, chronic, X-linked	Uncertain significance (Aug 26, 2022)	criteria provided, single submitter
Select item 24230255.	NC_000023.10:g.(?_37658188)_(37670170_?)del GRCh37: ChrX:37658188-37670170	CYBB		Granulomatous disease, chronic, X-linked	Pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 24230246.	NC_000023.10:g.(?_37639262)_(37660621_?)del GRCh37: ChrX:37639262-37660621	CYBB		Granulomatous disease, chronic, X-linked	Pathogenic (May 28, 2022)	criteria provided, single submitter
Select item 24230237.	NC_000023.10:g.(?_37545215)_(37664441_?)del GRCh37: ChrX:37545215-37664441	CYBB, XK		Granulomatous disease, chronic, X-linked	Pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 24230228.	NC_000023.10:g.(?_37545215)_(37670170_?)del GRCh37: ChrX:37545215-37670170	CYBB, XK		Granulomatous disease, chronic, X-linked	Pathogenic (Aug 13, 2022)	criteria provided, single submitter
Select item 24191979.	NM_000397.4(CYBB):c.964G>A (p.Gly322Arg) GRCh37: ChrX:37663196 GRCh38: ChrX:37803943	CYBB	G322R	Granulomatous disease, chronic, X-linked	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 219655310.	NM_000397.4(CYBB):c.46-14T>G GRCh37: ChrX:37641327 GRCh38: ChrX:37782074	CYBB		Granulomatous disease, chronic, X-linked	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 219344111.	NM_000397.4(CYBB):c.372A>G (p.Glu124=) GRCh37: ChrX:37652952 GRCh38: ChrX:37793699	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 218826912.	NM_000397.4(CYBB):c.1104T>C (p.Ala368=) GRCh37: ChrX:37663336 GRCh38: ChrX:37804083	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 218826813.	NM_000397.4(CYBB):c.1071C>T (p.Ile357=) GRCh37: ChrX:37663303 GRCh38: ChrX:37804050	CYBB		Granulomatous disease, chronic, X-linked	Benign (Oct 31, 2022)	criteria provided, single submitter
Select item 218411814.	NM_000397.4(CYBB):c.142-5T>C GRCh37: ChrX:37642738 GRCh38: ChrX:37783485	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 217465515.	NM_000397.4(CYBB):c.1376A>G (p.Gln459Arg) GRCh37: ChrX:37665701 GRCh38: ChrX:37806448	CYBB	Q459R	Granulomatous disease, chronic, X-linked	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 217040516.	NM_000397.4(CYBB):c.67G>A (p.Val23Ile) GRCh37: ChrX:37641362 GRCh38: ChrX:37782109	CYBB	V23I	Granulomatous disease, chronic, X-linked	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 216602017.	NM_000397.4(CYBB):c.169G>T (p.Ala57Ser) GRCh37: ChrX:37642770 GRCh38: ChrX:37783517	CYBB	A57S	Granulomatous disease, chronic, X-linked	Likely pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 216412018.	NM_000397.4(CYBB):c.1209G>T (p.Val403=) GRCh37: ChrX:37664316 GRCh38: ChrX:37805063	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Dec 5, 2019)	criteria provided, single submitter
Select item 216296119.	NM_000397.4(CYBB):c.1336C>A (p.Arg446=) GRCh37: ChrX:37665661 GRCh38: ChrX:37806408	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 216212820.	NM_000397.4(CYBB):c.1587-17T>C GRCh37: ChrX:37670027 GRCh38: ChrX:37810774	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 215903921.	NM_000397.4(CYBB):c.325G>A (p.Ala109Thr) GRCh37: ChrX:37651300 GRCh38: ChrX:37792047	CYBB	A109T	Granulomatous disease, chronic, X-linked	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 214973022.	NM_000397.4(CYBB):c.1314+5G>A GRCh37: ChrX:37664426 GRCh38: ChrX:37805173	CYBB		Granulomatous disease, chronic, X-linked	Uncertain significance (Jul 11, 2021)	criteria provided, single submitter
Select item 214116723.	NM_000397.4(CYBB):c.1314+16T>C GRCh37: ChrX:37664437 GRCh38: ChrX:37805184	CYBB		Granulomatous disease, chronic, X-linked	Benign (Sep 21, 2022)	criteria provided, single submitter
Select item 214046824.	NM_000397.4(CYBB):c.91C>T (p.Arg31Trp) GRCh37: ChrX:37641386 GRCh38: ChrX:37782133	CYBB	R31W	Granulomatous disease, chronic, X-linked	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 213942525.	NM_000397.4(CYBB):c.260C>T (p.Ser87Leu) GRCh37: ChrX:37651235 GRCh38: ChrX:37791982	CYBB	S87L	Granulomatous disease, chronic, X-linked	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 213852526.	NM_000397.4(CYBB):c.1546T>A (p.Trp516Arg) GRCh37: ChrX:37668904 GRCh38: ChrX:37809651	CYBB	W516R	Granulomatous disease, chronic, X-linked	Pathogenic (Jan 28, 2022)	criteria provided, single submitter
Select item 213852427.	NM_000397.4(CYBB):c.1500T>G (p.Asp500Glu) GRCh37: ChrX:37668858 GRCh38: ChrX:37809605	CYBB	D500E	Granulomatous disease, chronic, X-linked	Pathogenic (Mar 13, 2022)	criteria provided, single submitter
Select item 213852328.	NM_000397.4(CYBB):c.1441A>C (p.Thr481Pro) GRCh37: ChrX:37665766 GRCh38: ChrX:37806513	CYBB	T481P	Granulomatous disease, chronic, X-linked	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 213852229.	NM_000397.4(CYBB):c.1328G>A (p.Trp443Ter) GRCh37: ChrX:37665653 GRCh38: ChrX:37806400	CYBB	W443*	Granulomatous disease, chronic, X-linked	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 213852030.	NM_000397.4(CYBB):c.755del (p.Gly252fs) GRCh37: ChrX:37658285 GRCh38: ChrX:37799032	CYBB	G252fs	Granulomatous disease, chronic, X-linked	Pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 213851931.	NM_000397.4(CYBB):c.125C>G (p.Thr42Arg) GRCh37: ChrX:37641420 GRCh38: ChrX:37782167	CYBB	T42R	Granulomatous disease, chronic, X-linked	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 213851832.	NM_000397.4(CYBB):c.40del (p.Val14fs) GRCh37: ChrX:37639370 GRCh38: ChrX:37780117	CYBB	V14fs	Granulomatous disease, chronic, X-linked	Pathogenic (Jun 18, 2022)	criteria provided, single submitter
Select item 213851733.	NM_000397.4(CYBB):c.11G>A (p.Trp4Ter) GRCh37: ChrX:37639341 GRCh38: ChrX:37780088	CYBB	W4*	Granulomatous disease, chronic, X-linked	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 213566834.	NM_000397.4(CYBB):c.1014C>G (p.His338Gln) GRCh37: ChrX:37663246 GRCh38: ChrX:37803993	CYBB	H338Q	Granulomatous disease, chronic, X-linked	Pathogenic (May 8, 2022)	criteria provided, single submitter
Select item 212825635.	NM_000397.4(CYBB):c.1610G>T (p.Cys537Phe) GRCh37: ChrX:37670067 GRCh38: ChrX:37810814	CYBB	C537F	Granulomatous disease, chronic, X-linked	Likely pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 212668236.	NM_000397.4(CYBB):c.866G>A (p.Trp289Ter) GRCh37: ChrX:37660570 GRCh38: ChrX:37801317	CYBB	W289*	Granulomatous disease, chronic, X-linked	Pathogenic (Apr 16, 2022)	criteria provided, single submitter
Select item 212468637.	NM_000397.4(CYBB):c.45+2dup GRCh37: ChrX:37639376-37639377 GRCh38: ChrX:37780123-37780124	CYBB		Granulomatous disease, chronic, X-linked	Pathogenic (May 31, 2022)	criteria provided, single submitter
Select item 211835638.	NM_000397.4(CYBB):c.1221G>A (p.Val407=) GRCh37: ChrX:37664328 GRCh38: ChrX:37805075	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 211775139.	NM_000397.4(CYBB):c.1266A>G (p.Ser422=) GRCh37: ChrX:37664373 GRCh38: ChrX:37805120	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 211273140.	NM_000397.4(CYBB):c.1626G>A (p.Leu542=) GRCh37: ChrX:37670083 GRCh38: ChrX:37810830	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 211036741.	NM_000397.4(CYBB):c.1315-10C>A GRCh37: ChrX:37665630 GRCh38: ChrX:37806377	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 211029342.	NM_000397.4(CYBB):c.483G>A (p.Lys161=) GRCh37: ChrX:37653063 GRCh38: ChrX:37793810	CYBB		Granulomatous disease, chronic, X-linked	Likely pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 210755743.	NM_000397.4(CYBB):c.228G>C (p.Leu76=) GRCh37: ChrX:37642829 GRCh38: ChrX:37783576	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 209257844.	NM_000397.4(CYBB):c.75del (p.Phe26fs) GRCh37: ChrX:37641370 GRCh38: ChrX:37782117	CYBB	F26fs	Granulomatous disease, chronic, X-linked	Pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 208473745.	NM_000397.4(CYBB):c.1401A>G (p.Glu467=) GRCh37: ChrX:37665726 GRCh38: ChrX:37806473	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Jan 22, 2022)	criteria provided, single submitter
Select item 207853146.	NM_000397.4(CYBB):c.1194G>C (p.Val398=) GRCh37: ChrX:37664301 GRCh38: ChrX:37805048	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 207433947.	NM_000397.4(CYBB):c.484-9A>G GRCh37: ChrX:37655195 GRCh38: ChrX:37795942	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Jan 12, 2022)	criteria provided, single submitter
Select item 207422048.	NM_000397.4(CYBB):c.474G>A (p.Lys158=) GRCh37: ChrX:37653054 GRCh38: ChrX:37793801	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 204929649.	NM_000397.4(CYBB):c.1151+15C>A GRCh37: ChrX:37663398 GRCh38: ChrX:37804145	CYBB		Granulomatous disease, chronic, X-linked	Benign (Oct 22, 2022)	criteria provided, single submitter
Select item 204025150.	NM_000397.4(CYBB):c.650T>C (p.Ile217Thr) GRCh37: ChrX:37655370 GRCh38: ChrX:37796117	CYBB	I217T	Granulomatous disease, chronic, X-linked	Uncertain significance (Dec 12, 2021)	criteria provided, single submitter
Select item 203899651.	NM_000397.4(CYBB):c.1503G>T (p.Val501=) GRCh37: ChrX:37668861 GRCh38: ChrX:37809608	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Feb 1, 2022)	criteria provided, single submitter
Select item 203452652.	NM_000397.4(CYBB):c.243T>C (p.Gly81=) GRCh37: ChrX:37642844 GRCh38: ChrX:37783591	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 203431853.	NM_000397.4(CYBB):c.1539G>C (p.Arg513=) GRCh37: ChrX:37668897 GRCh38: ChrX:37809644	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Oct 6, 2022)	criteria provided, single submitter
Select item 203254154.	NM_000397.4(CYBB):c.253-6C>A GRCh37: ChrX:37651222 GRCh38: ChrX:37791969	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 202901455.	NM_000397.4(CYBB):c.1314+13A>C GRCh37: ChrX:37664434 GRCh38: ChrX:37805181	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 202402256.	NM_000397.4(CYBB):c.684A>G (p.Val228=) GRCh37: ChrX:37658217 GRCh38: ChrX:37798964	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 201395857.	NM_000397.4(CYBB):c.1248C>T (p.Phe416=) GRCh37: ChrX:37664355 GRCh38: ChrX:37805102	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 201336958.	NM_000397.4(CYBB):c.1249G>T (p.Ala417Ser) GRCh37: ChrX:37664356 GRCh38: ChrX:37805103	CYBB	A417S	Granulomatous disease, chronic, X-linked	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 201265959.	NM_000397.4(CYBB):c.886del (p.Val296fs) GRCh37: ChrX:37660589 GRCh38: ChrX:37801336	CYBB	V296fs	Granulomatous disease, chronic, X-linked	Pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 201007260.	NM_000397.4(CYBB):c.484-14_484-13insAT GRCh37: ChrX:37655189-37655190 GRCh38: ChrX:37795936-37795937	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 200098861.	NM_000397.4(CYBB):c.1152-19C>A GRCh37: ChrX:37664240 GRCh38: ChrX:37804987	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 200092462.	NM_000397.4(CYBB):c.771C>T (p.Cys257=) GRCh37: ChrX:37658304 GRCh38: ChrX:37799051	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 199982463.	NM_000397.4(CYBB):c.1078G>C (p.Asp360His) GRCh37: ChrX:37663310 GRCh38: ChrX:37804057	CYBB	D360H	Granulomatous disease, chronic, X-linked	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 199042864.	NM_000397.4(CYBB):c.721A>C (p.Ile241Leu) GRCh37: ChrX:37658254 GRCh38: ChrX:37799001	CYBB	I241L	Granulomatous disease, chronic, X-linked	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 198822465.	NM_000397.4(CYBB):c.1677G>C (p.Arg559=) GRCh37: ChrX:37670134 GRCh38: ChrX:37810881	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 198409566.	NM_000397.4(CYBB):c.725C>G (p.Thr242Arg) GRCh37: ChrX:37658258 GRCh38: ChrX:37799005	CYBB	T242R	Granulomatous disease, chronic, X-linked	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 198285967.	NM_000397.4(CYBB):c.670G>A (p.Ala224Thr) GRCh37: ChrX:37655390 GRCh38: ChrX:37796137	CYBB	A224T	Granulomatous disease, chronic, X-linked	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 196826868.	NM_000397.4(CYBB):c.787G>T (p.Ala263Ser) GRCh37: ChrX:37658320 GRCh38: ChrX:37799067	CYBB	A263S	Granulomatous disease, chronic, X-linked	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 196395069.	NM_000397.4(CYBB):c.953A>C (p.Lys318Thr) GRCh37: ChrX:37663185 GRCh38: ChrX:37803932	CYBB	K318T	Granulomatous disease, chronic, X-linked	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 195980370.	NM_000397.4(CYBB):c.285C>T (p.Asp95=) GRCh37: ChrX:37651260 GRCh38: ChrX:37792007	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 195800571.	NM_000397.4(CYBB):c.1236G>A (p.Gly412=) GRCh37: ChrX:37664343 GRCh38: ChrX:37805090	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 195614172.	NM_000397.4(CYBB):c.513G>T (p.Val171=) GRCh37: ChrX:37655233 GRCh38: ChrX:37795980	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 194679373.	NM_000397.4(CYBB):c.956T>C (p.Met319Thr) GRCh37: ChrX:37663188 GRCh38: ChrX:37803935	CYBB	M319T	Granulomatous disease, chronic, X-linked	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 194632574.	NM_000397.4(CYBB):c.27G>A (p.Gly9=) GRCh37: ChrX:37639357 GRCh38: ChrX:37780104	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 194300875.	NM_000397.4(CYBB):c.1338G>A (p.Arg446=) GRCh37: ChrX:37665663 GRCh38: ChrX:37806410	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 193498276.	NM_000397.4(CYBB):c.102T>C (p.Asp34=) GRCh37: ChrX:37641397 GRCh38: ChrX:37782144	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 193272877.	NM_000397.4(CYBB):c.327A>C (p.Ala109=) GRCh37: ChrX:37651302 GRCh38: ChrX:37792049	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 192709078.	NM_000397.4(CYBB):c.1410T>C (p.Asn470=) GRCh37: ChrX:37665735 GRCh38: ChrX:37806482	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 191644579.	NM_000397.4(CYBB):c.766G>A (p.Glu256Lys) GRCh37: ChrX:37658299 GRCh38: ChrX:37799046	CYBB	E256K	Granulomatous disease, chronic, X-linked	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 190841180.	NM_000397.4(CYBB):c.338-15_338-13del GRCh37: ChrX:37652903-37652905 GRCh38: ChrX:37793650-37793652	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 190483681.	NM_000397.4(CYBB):c.1297A>G (p.Asn433Asp) GRCh37: ChrX:37664404 GRCh38: ChrX:37805151	CYBB	N433D	Granulomatous disease, chronic, X-linked	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 190429982.	NM_000397.4(CYBB):c.898-10T>A GRCh37: ChrX:37663120 GRCh38: ChrX:37803867	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 172066083.	NM_000397.4(CYBB):c.1597G>A (p.Gly533Arg) GRCh37: ChrX:37670054 GRCh38: ChrX:37810801	CYBB	G533R	Granulomatous disease, chronic, X-linked	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 172051584.	NM_000397.4(CYBB):c.1241C>A (p.Thr414Lys) GRCh37: ChrX:37664348 GRCh38: ChrX:37805095	CYBB	T414K	Granulomatous disease, chronic, X-linked	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 172032285.	NM_000397.4(CYBB):c.1207G>T (p.Val403Leu) GRCh37: ChrX:37664314 GRCh38: ChrX:37805061	CYBB	V403L	Granulomatous disease, chronic, X-linked	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 171060686.	NM_000397.4(CYBB):c.1531T>C (p.Tyr511His) GRCh37: ChrX:37668889 GRCh38: ChrX:37809636	CYBB	Y511H	Granulomatous disease, chronic, X-linked, not provided	Uncertain significance (Apr 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170659887.	NM_000397.4(CYBB):c.1385A>C (p.Glu462Ala) GRCh37: ChrX:37665710 GRCh38: ChrX:37806457	CYBB	E462A	Granulomatous disease, chronic, X-linked	Likely pathogenic (Sep 16, 2022)	criteria provided, single submitter
Select item 170352288.	GRCh37/hg19 Xp21.1-11.4(chrX:37550041-37645092) GRCh37: ChrX:37550041-37645092	XK, CYBB		Granulomatous disease, chronic, X-linked	Pathogenic	no assertion criteria provided
Select item 169913589.	NM_000397.4(CYBB):c.1314+1G>C GRCh37: ChrX:37664422 GRCh38: ChrX:37805169	CYBB		Granulomatous disease, chronic, X-linked	Pathogenic (Oct 15, 2020)	criteria provided, single submitter
Select item 168350790.	NM_000397.4(CYBB):c.47T>C (p.Leu16Pro) GRCh37: ChrX:37641342 GRCh38: ChrX:37782089	CYBB	L16P	Granulomatous disease, chronic, X-linked	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 168324591.	NM_000397.4(CYBB):c.1629_1630delinsCT (p.Glu544Ter) GRCh37: ChrX:37670086-37670087 GRCh38: ChrX:37810833-37810834	CYBB	E544*	Granulomatous disease, chronic, X-linked	Pathogenic/Likely pathogenic (Apr 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167477092.	NM_000397.4(CYBB):c.198G>C (p.Leu66=) GRCh37: ChrX:37642799 GRCh38: ChrX:37783546	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Jan 29, 2021)	criteria provided, single submitter
Select item 167437193.	NM_000397.4(CYBB):c.642C>T (p.Ile214=) GRCh37: ChrX:37655362 GRCh38: ChrX:37796109	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Aug 16, 2021)	criteria provided, single submitter
Select item 167369094.	NM_000397.4(CYBB):c.354A>C (p.Ala118=) GRCh37: ChrX:37652934 GRCh38: ChrX:37793681	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (May 4, 2021)	criteria provided, single submitter
Select item 166903295.	NM_000397.4(CYBB):c.252+18A>G GRCh37: ChrX:37642871 GRCh38: ChrX:37783618	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Jun 19, 2021)	criteria provided, single submitter
Select item 166514096.	NM_000397.4(CYBB):c.1635C>T (p.Thr545=) GRCh37: ChrX:37670092 GRCh38: ChrX:37810839	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Nov 26, 2021)	criteria provided, single submitter
Select item 166509697.	NM_000397.4(CYBB):c.705T>C (p.Ser235=) GRCh37: ChrX:37658238 GRCh38: ChrX:37798985	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Oct 29, 2021)	criteria provided, single submitter
Select item 165682198.	NM_000397.4(CYBB):c.1122G>A (p.Gln374=) GRCh37: ChrX:37663354 GRCh38: ChrX:37804101	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Nov 27, 2020)	criteria provided, single submitter
Select item 165620099.	NM_000397.4(CYBB):c.945G>A (p.Lys315=) GRCh37: ChrX:37663177 GRCh38: ChrX:37803924	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 1648777100.	NM_000397.4(CYBB):c.897+8T>C GRCh37: ChrX:37660609 GRCh38: ChrX:37801356	CYBB		Granulomatous disease, chronic, X-linked	Likely benign (Apr 8, 2022)	criteria provided, single submitter

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