ClinVar for MedGen (Select 87442) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25850791.	NM_000475.5(NR0B1):c.129C>A (p.Cys43Ter) GRCh37: ChrX:30327352 GRCh38: ChrX:30309235	NR0B1	C43*	Congenital adrenal hypoplasia, X-linked	Uncertain significance	criteria provided, single submitter
Select item 25850372.	NM_000475.5(NR0B1):c.617del (p.His206fs) GRCh37: ChrX:30326864 GRCh38: ChrX:30308747	NR0B1	H206fs	Congenital adrenal hypoplasia, X-linked	Likely pathogenic	criteria provided, single submitter
Select item 25844863.	NM_000475.5(NR0B1):c.1169-1G>T GRCh37: ChrX:30322941 GRCh38: ChrX:30304824	NR0B1		Congenital adrenal hypoplasia, X-linked	Pathogenic	criteria provided, single submitter
Select item 25822954.	NM_000475.5(NR0B1):c.1082T>G (p.Ile361Ser) GRCh37: ChrX:30326399 GRCh38: ChrX:30308282	NR0B1	I361S	Congenital adrenal hypoplasia, X-linked	Uncertain significance (Sep 24, 2023)	criteria provided, single submitter
Select item 25725455.	NM_000475.5(NR0B1):c.606C>A (p.Cys202Ter) GRCh37: ChrX:30326875 GRCh38: ChrX:30308758	NR0B1	C202*	Congenital adrenal hypoplasia, X-linked	Likely pathogenic	criteria provided, single submitter
Select item 24231436.	NC_000023.10:g.(?_28807461)_(33229429_?)dup GRCh37: ChrX:28807461-33229429	GK, NR0B1, MAGEB1, MAGEB2, FTHL17, DMD, TASL, IL1RAPL1, MAGEB4, TAB3, MAGEB3		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 24231427.	NC_000023.10:g.(?_30322696)_(30327480_?)del GRCh37: ChrX:30322696-30327480	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Pathogenic (Sep 8, 2021)	criteria provided, single submitter
Select item 21989758.	NM_000475.5(NR0B1):c.1168+10C>G GRCh37: ChrX:30326303 GRCh38: ChrX:30308186	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Benign (Sep 16, 2022)	criteria provided, single submitter
Select item 21865289.	NM_000475.5(NR0B1):c.798G>C (p.Leu266=) GRCh37: ChrX:30326683 GRCh38: ChrX:30308566	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Benign (Apr 15, 2022)	criteria provided, single submitter
Select item 218617610.	NM_000475.5(NR0B1):c.1005C>T (p.Pro335=) GRCh37: ChrX:30326476 GRCh38: ChrX:30308359	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 218421111.	NM_000475.5(NR0B1):c.1040C>A (p.Ala347Glu) GRCh37: ChrX:30326441 GRCh38: ChrX:30308324	NR0B1	A347E	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Benign (Oct 13, 2022)	criteria provided, single submitter
Select item 218254812.	NM_000475.5(NR0B1):c.521G>C (p.Arg174Pro) GRCh37: ChrX:30326960 GRCh38: ChrX:30308843	NR0B1	R174P	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Uncertain significance (Oct 27, 2022)	criteria provided, single submitter
Select item 217792313.	NM_000475.5(NR0B1):c.607G>A (p.Gly203Ser) GRCh37: ChrX:30326874 GRCh38: ChrX:30308757	NR0B1	G203S	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 217499514.	NM_000475.5(NR0B1):c.536A>T (p.Gln179Leu) GRCh37: ChrX:30326945 GRCh38: ChrX:30308828	NR0B1	Q179L	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 217259515.	NM_000475.5(NR0B1):c.174G>A (p.Arg58=) GRCh37: ChrX:30327307 GRCh38: ChrX:30309190	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Benign (Jun 18, 2022)	criteria provided, single submitter
Select item 216579316.	NM_000475.5(NR0B1):c.255G>A (p.Thr85=) GRCh37: ChrX:30327226 GRCh38: ChrX:30309109	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Benign (Sep 12, 2022)	criteria provided, single submitter
Select item 216039217.	NM_000475.5(NR0B1):c.8_9delinsAA (p.Gly3Glu) GRCh37: ChrX:30327472-30327473 GRCh38: ChrX:30309355-30309356	NR0B1	G3E	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 214969718.	NM_000475.5(NR0B1):c.989G>A (p.Gly330Asp) GRCh37: ChrX:30326492 GRCh38: ChrX:30308375	NR0B1	G330D	46,XY sex reversal 2, Congenital adrenal hypoplasia, X-linked	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 214392819.	NM_000475.5(NR0B1):c.858G>A (p.Leu286=) GRCh37: ChrX:30326623 GRCh38: ChrX:30308506	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 214196520.	NM_000475.5(NR0B1):c.162G>T (p.Leu54=) GRCh37: ChrX:30327319 GRCh38: ChrX:30309202	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 213850021.	NM_000475.5(NR0B1):c.292G>T (p.Glu98Ter) GRCh37: ChrX:30327189 GRCh38: ChrX:30309072	NR0B1	E98*	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Pathogenic (Jan 16, 2022)	criteria provided, single submitter
Select item 213849822.	NM_000475.5(NR0B1):c.899C>T (p.Ala300Val) GRCh37: ChrX:30326582 GRCh38: ChrX:30308465	NR0B1	A300V	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 213849723.	NM_000475.5(NR0B1):c.1292del (p.Ser431fs) GRCh37: ChrX:30322817 GRCh38: ChrX:30304700	NR0B1	S431fs	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Pathogenic (Jun 22, 2022)	criteria provided, single submitter
Select item 213449624.	NM_000475.5(NR0B1):c.271del (p.Tyr91fs) GRCh37: ChrX:30327210 GRCh38: ChrX:30309093	NR0B1	Y91fs	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Pathogenic (May 6, 2022)	criteria provided, single submitter
Select item 212696625.	NM_000475.5(NR0B1):c.740C>A (p.Ala247Glu) GRCh37: ChrX:30326741 GRCh38: ChrX:30308624	NR0B1	A247E	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 211579326.	NM_000475.5(NR0B1):c.382_425dup (p.Gln142fs) GRCh37: ChrX:30327055-30327056 GRCh38: ChrX:30308938-30308939	NR0B1	Q142fs	46,XY sex reversal 2, Congenital adrenal hypoplasia, X-linked	Pathogenic (May 16, 2022)	criteria provided, single submitter
Select item 211231127.	NM_000475.5(NR0B1):c.585T>C (p.Leu195=) GRCh37: ChrX:30326896 GRCh38: ChrX:30308779	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely benign (Aug 11, 2022)	criteria provided, single submitter
Select item 209486928.	NM_000475.5(NR0B1):c.389A>G (p.Tyr130Cys) GRCh37: ChrX:30327092 GRCh38: ChrX:30308975	NR0B1	Y130C	46,XY sex reversal 2, Congenital adrenal hypoplasia, X-linked	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 208068329.	NM_000475.5(NR0B1):c.973C>T (p.Arg325Trp) GRCh37: ChrX:30326508 GRCh38: ChrX:30308391	NR0B1	R325W	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Benign (Sep 12, 2022)	criteria provided, single submitter
Select item 208068130.	NM_000475.5(NR0B1):c.979G>A (p.Glu327Lys) GRCh37: ChrX:30326502 GRCh38: ChrX:30308385	NR0B1	E327K	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Benign (Sep 12, 2022)	criteria provided, single submitter
Select item 205372231.	NM_000475.5(NR0B1):c.984C>G (p.Thr328=) GRCh37: ChrX:30326497 GRCh38: ChrX:30308380	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Benign (Jul 19, 2022)	criteria provided, single submitter
Select item 204433032.	NM_000475.5(NR0B1):c.981G>C (p.Glu327Asp) GRCh37: ChrX:30326500 GRCh38: ChrX:30308383	NR0B1	E327D	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 202032633.	NM_000475.5(NR0B1):c.405T>A (p.Cys135Ter) GRCh37: ChrX:30327076 GRCh38: ChrX:30308959	NR0B1	C135*	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Pathogenic (Oct 14, 2022)	criteria provided, single submitter
Select item 201469134.	NM_000475.5(NR0B1):c.1286_1295del (p.Leu429fs) GRCh37: ChrX:30322814-30322823 GRCh38: ChrX:30304697-30304706	NR0B1	L429fs	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 201044935.	NM_000475.5(NR0B1):c.1170C>T (p.Asp390=) GRCh37: ChrX:30322939 GRCh38: ChrX:30304822	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Benign (Sep 29, 2022)	criteria provided, single submitter
Select item 200144236.	NM_000475.5(NR0B1):c.227A>G (p.Gln76Arg) GRCh37: ChrX:30327254 GRCh38: ChrX:30309137	NR0B1	Q76R	46,XY sex reversal 2, Congenital adrenal hypoplasia, X-linked	Uncertain significance (Jun 6, 2022)	criteria provided, single submitter
Select item 199143637.	NM_000475.5(NR0B1):c.685G>A (p.Glu229Lys) GRCh37: ChrX:30326796 GRCh38: ChrX:30308679	NR0B1	E229K	46,XY sex reversal 2, Congenital adrenal hypoplasia, X-linked	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 199082838.	NM_000475.5(NR0B1):c.939G>C (p.Glu313Asp) GRCh37: ChrX:30326542 GRCh38: ChrX:30308425	NR0B1	E313D	46,XY sex reversal 2, Congenital adrenal hypoplasia, X-linked	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 196858239.	NM_000475.5(NR0B1):c.300G>C (p.Thr100=) GRCh37: ChrX:30327181 GRCh38: ChrX:30309064	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 194866440.	NM_000475.5(NR0B1):c.568G>C (p.Gly190Arg) GRCh37: ChrX:30326913 GRCh38: ChrX:30308796	NR0B1	G190R	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 193266441.	NM_000475.5(NR0B1):c.471C>T (p.His157=) GRCh37: ChrX:30327010 GRCh38: ChrX:30308893	NR0B1		not provided, Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely benign (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 192715142.	NM_000475.5(NR0B1):c.1323C>G (p.Ala441=) GRCh37: ChrX:30322786 GRCh38: ChrX:30304669	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 180611943.	NM_000475.5(NR0B1):c.1350del (p.Arg450fs) GRCh37: ChrX:30322759 GRCh38: ChrX:30304642	NR0B1	R450fs	Congenital adrenal hypoplasia, X-linked	Pathogenic (Oct 19, 2020)	criteria provided, single submitter
Select item 180512744.	NM_000475.5(NR0B1):c.1A>G (p.Met1Val) GRCh37: ChrX:30327480 GRCh38: ChrX:30309363	NR0B1	M1V	Congenital adrenal hypoplasia, X-linked	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 170957545.	NM_000475.5(NR0B1):c.64C>T (p.Gln22Ter) GRCh37: ChrX:30327417 GRCh38: ChrX:30309300	NR0B1	Q22*	Congenital adrenal hypoplasia, X-linked	Likely pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 170752846.	NM_000475.5(NR0B1):c.1201C>T (p.Gln401Ter) GRCh37: ChrX:30322908 GRCh38: ChrX:30304791	NR0B1	Q401*	Congenital adrenal hypoplasia, X-linked	Pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 169614047.	NM_000475.5(NR0B1):c.59C>G (p.Ala20Gly) GRCh37: ChrX:30327422 GRCh38: ChrX:30309305	NR0B1	A20G	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2, not specified	Uncertain significance (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 164120548.	NM_000475.5(NR0B1):c.252G>C (p.Leu84=) GRCh37: ChrX:30327229 GRCh38: ChrX:30309112	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 163469749.	NM_000475.5(NR0B1):c.1308G>A (p.Leu436=) GRCh37: ChrX:30322801 GRCh38: ChrX:30304684	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely benign (Aug 9, 2021)	criteria provided, single submitter
Select item 162699650.	NM_000475.5(NR0B1):c.324G>A (p.Ser108=) GRCh37: ChrX:30327157 GRCh38: ChrX:30309040	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 161228151.	NM_000475.5(NR0B1):c.1209C>G (p.Leu403=) GRCh37: ChrX:30322900 GRCh38: ChrX:30304783	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely benign (Jul 6, 2021)	criteria provided, single submitter
Select item 158593352.	NM_000475.5(NR0B1):c.965C>G (p.Thr322Ser) GRCh37: ChrX:30326516 GRCh38: ChrX:30308399	NR0B1	T322S	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 158262953.	NM_000475.5(NR0B1):c.207C>T (p.Cys69=) GRCh37: ChrX:30327274 GRCh38: ChrX:30309157	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 157116254.	NM_000475.5(NR0B1):c.255G>T (p.Thr85=) GRCh37: ChrX:30327226 GRCh38: ChrX:30309109	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 155455955.	NM_000475.5(NR0B1):c.96G>C (p.Thr32=) GRCh37: ChrX:30327385 GRCh38: ChrX:30309268	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Benign (Apr 3, 2021)	criteria provided, single submitter
Select item 154952656.	NM_000475.5(NR0B1):c.237C>A (p.Ile79=) GRCh37: ChrX:30327244 GRCh38: ChrX:30309127	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely benign (Oct 12, 2021)	criteria provided, single submitter
Select item 154135357.	NM_000475.5(NR0B1):c.1176G>A (p.Pro392=) GRCh37: ChrX:30322933 GRCh38: ChrX:30304816	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Benign/Likely benign (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152625858.	NM_000475.5(NR0B1):c.510_522dup (p.Ser175fs) GRCh37: ChrX:30326958-30326959 GRCh38: ChrX:30308841-30308842	NR0B1	S175fs	Congenital adrenal hypoplasia, X-linked	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 143540559.	NM_000475.5(NR0B1):c.194G>T (p.Arg65Leu) GRCh37: ChrX:30327287 GRCh38: ChrX:30309170	NR0B1	R65L	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Uncertain significance (Nov 2, 2021)	criteria provided, single submitter
Select item 141529560.	NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr) GRCh37: ChrX:30326784 GRCh38: ChrX:30308667	NR0B1	A233T	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Uncertain significance (Jun 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138709861.	NM_000475.5(NR0B1):c.1121G>A (p.Ser374Asn) GRCh37: ChrX:30326360 GRCh38: ChrX:30308243	NR0B1	S374N	46,XY sex reversal 2, Congenital adrenal hypoplasia, X-linked	Uncertain significance (Oct 29, 2021)	criteria provided, single submitter
Select item 137168362.	NM_000475.5(NR0B1):c.1168+1del GRCh37: ChrX:30326312 GRCh38: ChrX:30308195	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Pathogenic (Dec 1, 2021)	criteria provided, single submitter
Select item 135666163.	NM_000475.5(NR0B1):c.806T>G (p.Val269Gly) GRCh37: ChrX:30326675 GRCh38: ChrX:30308558	NR0B1	V269G	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 134204064.	NM_000475.5(NR0B1):c.155_156del (p.Glu52fs) GRCh37: ChrX:30327325-30327326 GRCh38: ChrX:30309208-30309209	NR0B1	E52fs	not provided	Pathogenic (Feb 15, 2022)	criteria provided, single submitter
Select item 133904665.	NM_000475.5(NR0B1):c.881T>C (p.Leu294Pro) GRCh37: ChrX:30326600 GRCh38: ChrX:30308483	NR0B1	L294P	Congenital adrenal hypoplasia, X-linked	Uncertain significance	criteria provided, single submitter
Select item 120500266.	NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met) GRCh37: ChrX:30322699 GRCh38: ChrX:30304582	NR0B1	I470M	not provided, 46,XY sex reversal 2, Congenital adrenal hypoplasia, X-linked	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118447567.	NM_000475.5(NR0B1):c.797T>C (p.Leu266Pro) GRCh37: ChrX:30326684 GRCh38: ChrX:30308567	NR0B1	L266P	Congenital adrenal hypoplasia, X-linked	Likely pathogenic	no assertion criteria provided
Select item 114329168.	NM_000475.5(NR0B1):c.582G>C (p.Ala194=) GRCh37: ChrX:30326899 GRCh38: ChrX:30308782	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely benign (Oct 11, 2020)	criteria provided, single submitter
Select item 113276169.	NM_000475.5(NR0B1):c.469C>T (p.His157Tyr) GRCh37: ChrX:30327012 GRCh38: ChrX:30308895	NR0B1	H157Y	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107565770.	NM_000475.5(NR0B1):c.226C>T (p.Gln76Ter) GRCh37: ChrX:30327255 GRCh38: ChrX:30309138	NR0B1	Q76*	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 98888671.	NM_000475.5(NR0B1):c.215_218dup (p.His73fs) GRCh37: ChrX:30327262-30327263 GRCh38: ChrX:30309145-30309146	NR0B1	H73fs	Congenital adrenal hypoplasia, X-linked	Pathogenic (Dec 14, 2020)	no assertion criteria provided
Select item 98145972.	NM_000475.5(NR0B1):c.1006dup (p.Val336fs) GRCh37: ChrX:30326474-30326475 GRCh38: ChrX:30308357-30308358	NR0B1	V336fs	Congenital adrenal hypoplasia, X-linked	Likely pathogenic (Oct 1, 2020)	criteria provided, single submitter
Select item 97841973.	NM_000475.5(NR0B1):c.1411T>C (p.Ter471Gln) GRCh37: ChrX:30322698 GRCh38: ChrX:30304581	NR0B1		Congenital adrenal hypoplasia, X-linked	Likely pathogenic (Sep 27, 2016)	criteria provided, single submitter
Select item 96223574.	NM_000475.5(NR0B1):c.785T>G (p.Leu262Arg) GRCh37: ChrX:30326696 GRCh38: ChrX:30308579	NR0B1	L262R	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 85494175.	NM_000475.5(NR0B1):c.155A>C (p.Glu52Ala) GRCh37: ChrX:30327326 GRCh38: ChrX:30309209	NR0B1	E52A	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 85382776.	NM_000475.5(NR0B1):c.159dup (p.Leu54fs) GRCh37: ChrX:30327321-30327322 GRCh38: ChrX:30309204-30309205	NR0B1	L54fs	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 83624577.	NM_000475.5(NR0B1):c.1042del (p.Glu348fs) GRCh37: ChrX:30326439 GRCh38: ChrX:30308322	NR0B1	E348fs	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Pathogenic (Mar 26, 2019)	criteria provided, single submitter
Select item 83135278.	NC_000023.11:g.(?_30304559)_(30309383_?)dup GRCh37: ChrX:30322676-30327500	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Uncertain significance (Dec 3, 2019)	criteria provided, single submitter
Select item 78456479.	NM_000475.5(NR0B1):c.222A>G (p.Pro74=) GRCh37: ChrX:30327259 GRCh38: ChrX:30309142	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely benign (Dec 14, 2021)	criteria provided, single submitter
Select item 76693080.	NM_000475.5(NR0B1):c.379G>A (p.Ala127Thr) GRCh37: ChrX:30327102 GRCh38: ChrX:30308985	NR0B1	A127T	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Benign (Dec 31, 2019)	criteria provided, single submitter
Select item 76678581.	NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) GRCh37: ChrX:30326881 GRCh38: ChrX:30308764	NR0B1	C200W	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2, Congenital adrenal hypoplasia, X-linked, not provided	Benign/Likely benign (Jul 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 73508482.	NM_000475.5(NR0B1):c.90A>G (p.Pro30=) GRCh37: ChrX:30327391 GRCh38: ChrX:30309274	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 70644283.	NM_000475.5(NR0B1):c.993C>T (p.Asn331=) GRCh37: ChrX:30326488 GRCh38: ChrX:30308371	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Benign/Likely benign (Dec 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 70591984.	NM_000475.5(NR0B1):c.870C>T (p.Cys290=) GRCh37: ChrX:30326611 GRCh38: ChrX:30308494	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Benign (Nov 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 70337585.	NM_000475.5(NR0B1):c.588G>A (p.Leu196=) GRCh37: ChrX:30326893 GRCh38: ChrX:30308776	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Benign (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70333686.	NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) GRCh37: ChrX:30326452 GRCh38: ChrX:30308335	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2, not specified, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62331487.	NM_000475.5(NR0B1):c.851TGGTGC[1] (p.284LV[1]) GRCh37: ChrX:30326619-30326624 GRCh38: ChrX:30308502-30308507	NR0B1		Congenital adrenal hypoplasia, X-linked	Pathogenic (Dec 30, 2017)	no assertion criteria provided
Select item 59165288.	NM_000475.5(NR0B1):c.307_308delinsTT (p.Pro103Leu) GRCh37: ChrX:30327173-30327174 GRCh38: ChrX:30309056-30309057	NR0B1	P103L	46,XY sex reversal 2, Congenital adrenal hypoplasia, X-linked	Uncertain significance (Nov 29, 2021)	criteria provided, single submitter
Select item 59127689.	NM_000475.5(NR0B1):c.593_594delinsAA (p.Arg198Gln) GRCh37: ChrX:30326887-30326888 GRCh38: ChrX:30308770-30308771	NR0B1	R198Q	46,XY sex reversal 2, Congenital adrenal hypoplasia, X-linked	Uncertain significance (Aug 9, 2021)	criteria provided, single submitter
Select item 59088490.	NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter) GRCh37: ChrX:30326562 GRCh38: ChrX:30308445	NR0B1	E307*	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2, Congenital adrenal hypoplasia, X-linked	Pathogenic (Nov 23, 2018)	criteria provided, multiple submitters, no conflicts
Select item 58753791.	NM_000475.5(NR0B1):c.1267del (p.His423fs) GRCh37: ChrX:30322842 GRCh38: ChrX:30304725	NR0B1	H423fs	Congenital adrenal hypoplasia, X-linked	Pathogenic (Aug 7, 2018)	criteria provided, single submitter
Select item 57977192.	NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter) GRCh37: ChrX:30326953 GRCh38: ChrX:30308836	NR0B1	Y176*	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Pathogenic (Feb 27, 2018)	criteria provided, single submitter
Select item 49285993.	NM_000475.5(NR0B1):c.1364_1365del (p.Thr455fs) GRCh37: ChrX:30322744-30322745 GRCh38: ChrX:30304627-30304628	NR0B1	T455fs	Congenital adrenal hypoplasia, X-linked	Pathogenic (Mar 5, 2009)	no assertion criteria provided
Select item 49285894.	NM_000475.5(NR0B1):c.1340T>C (p.Leu447Pro) GRCh37: ChrX:30322769 GRCh38: ChrX:30304652	NR0B1	L447P	Congenital adrenal hypoplasia, X-linked	Pathogenic (May 18, 2016)	no assertion criteria provided
Select item 49285795.	NM_000475.5(NR0B1):c.1168+1_1168+20del GRCh37: ChrX:30326293-30326312 GRCh38: ChrX:30308176-30308195	NR0B1		Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2, Congenital adrenal hypoplasia, X-linked	Pathogenic/Likely pathogenic (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49285696.	NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) GRCh37: ChrX:30326339 GRCh38: ChrX:30308222	NR0B1	L381P	Congenital adrenal hypoplasia, X-linked, 46,XY sex reversal 2	Likely pathogenic (Jun 9, 2022)	criteria provided, single submitter
Select item 49285597.	NM_000475.5(NR0B1):c.1123_1124insT (p.Thr375fs) GRCh37: ChrX:30326357-30326358 GRCh38: ChrX:30308240-30308241	NR0B1	T375fs	Congenital adrenal hypoplasia, X-linked	Pathogenic (Nov 28, 2011)	no assertion criteria provided
Select item 49285498.	NM_000475.5(NR0B1):c.952C>T (p.Gln318Ter) GRCh37: ChrX:30326529 GRCh38: ChrX:30308412	NR0B1	Q318*	Congenital adrenal hypoplasia, X-linked	Pathogenic (Jan 6, 2009)	no assertion criteria provided
Select item 49285399.	NM_000475.5(NR0B1):c.806T>A (p.Val269Asp) GRCh37: ChrX:30326675 GRCh38: ChrX:30308558	NR0B1	V269D	Congenital adrenal hypoplasia, X-linked	Pathogenic (Mar 16, 2011)	no assertion criteria provided
Select item 492852100.	NM_000475.5(NR0B1):c.754del (p.Gln252fs) GRCh37: ChrX:30326727 GRCh38: ChrX:30308610	NR0B1	Q252fs	Congenital adrenal hypoplasia, X-linked	Pathogenic (Sep 26, 2011)	no assertion criteria provided

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