ClinVar for MedGen (Select 424833) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 184

<< First< Prev

Page of 2

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25730571.	NM_000500.9(CYP21A2):c.497C>G (p.Ser166Cys) GRCh37: Chr6:32007182 GRCh38: Chr6:32039405	CYP21A2, LOC106780800	S136C, S166C, S31C	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Likely pathogenic (Apr 17, 2023)	criteria provided, single submitter
Select item 25730562.	NM_000500.9(CYP21A2):c.91C>T (p.Pro31Ser) GRCh37: Chr6:32006290 GRCh38: Chr6:32038513	CYP21A2, LOC106780800	P31S	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Likely pathogenic (Apr 14, 2023)	criteria provided, single submitter
Select item 24316693.	NM_000500.9(CYP21A2):c.37C>A (p.Leu13Met) GRCh37: Chr6:32006236 GRCh38: Chr6:32038459	CYP21A2, LOC106780800	L13M	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (Jan 20, 2023)	criteria provided, single submitter
Select item 24314004.	NM_000500.9(CYP21A2):c.104C>T (p.Pro35Leu) GRCh37: Chr6:32006303 GRCh38: Chr6:32038526	CYP21A2, LOC106780800	P35L	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (Jan 20, 2023)	criteria provided, single submitter
Select item 17233455.	NM_000500.9(CYP21A2):c.[710T>A;713T>A] GRCh37: Chr6:32007587 Chr6:32007584 GRCh38: Chr6:32039810 Chr6:32039807	CYP21A2, LOC106780800, LOC106780800, CYP21A2	V238E, V103E, V208E, I237N, I207N, I102N	Congenital adrenal hyperplasia	Pathogenic (Oct 19, 2022)	criteria provided, single submitter
Select item 17233446.	NM_000500.9(CYP21A2):c.[713T>A;719T>A] GRCh37: Chr6:32007587 Chr6:32007593 GRCh38: Chr6:32039810 Chr6:32039816	CYP21A2, LOC106780800, LOC106780800, CYP21A2	V238E, V103E, V208E, M240K, M105K, M210K	not specified	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 17233437.	NM_000500.9(CYP21A2):c.[710T>A;719T>A] GRCh37: Chr6:32007593 Chr6:32007584 GRCh38: Chr6:32039816 Chr6:32039807	LOC106780800, CYP21A2, LOC106780800, CYP21A2	M240K, M105K, M210K, I237N, I207N, I102N	not specified	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 17055688.	NM_000500.9(CYP21A2):c.503T>C (p.Leu168Pro) GRCh37: Chr6:32007188 GRCh38: Chr6:32039411	CYP21A2, LOC106780800	L138P, L168P, L33P	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 17055509.	NM_000500.9(CYP21A2):c.614G>A (p.Trp205Ter) GRCh37: Chr6:32007387 GRCh38: Chr6:32039610	CYP21A2, LOC106780800	W175, W205, W70*	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170545010.	NM_000500.9(CYP21A2):c.341C>T (p.Ser114Phe) GRCh37: Chr6:32006919 GRCh38: Chr6:32039142	CYP21A2, LOC106780800	S114F, S84F	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 168724911.	NM_000500.9(CYP21A2):c.433del (p.Gln145fs) GRCh37: Chr6:32007009 GRCh38: Chr6:32039232	CYP21A2, LOC106780800	Q10fs, Q115fs, Q145fs	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168714912.	NM_000500.9(CYP21A2):c.292+1G>A GRCh37: Chr6:32006589 GRCh38: Chr6:32038812	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168568613.	NM_000500.9(CYP21A2):c.923del (p.Leu308fs) GRCh37: Chr6:32007960 GRCh38: Chr6:32040183	CYP21A2, LOC106780800	L173fs, L278fs, L308fs	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167532014.	NM_000500.9(CYP21A2):c.1099C>T (p.Arg367Cys) GRCh37: Chr6:32008342 GRCh38: Chr6:32040565	CYP21A2, LOC106780800	R232C, R337C, R367C	Congenital adrenal hyperplasia, Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Conflicting interpretations of pathogenicity (Mar 2, 2022)	criteria provided, conflicting interpretations
Select item 167531915.	NM_000500.9(CYP21A2):c.1214T>C (p.Phe405Ser) GRCh37: Chr6:32008540 GRCh38: Chr6:32040763	CYP21A2, LOC106780800	F270S, F375S, F405S	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (Mar 10, 2021)	criteria provided, single submitter
Select item 167531816.	NM_000500.9(CYP21A2):c.919T>G (p.Phe307Val) GRCh37: Chr6:32007962 GRCh38: Chr6:32040185	CYP21A2, LOC106780800	F172V, F277V, F307V	not provided, Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Conflicting interpretations of pathogenicity (Feb 7, 2022)	criteria provided, conflicting interpretations
Select item 167531717.	NM_000500.9(CYP21A2):c.913G>A (p.Val305Met) GRCh37: Chr6:32007956 GRCh38: Chr6:32040179	CYP21A2, LOC106780800	V170M, V275M, V305M	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (Mar 10, 2021)	criteria provided, single submitter
Select item 167531618.	NM_000500.9(CYP21A2):c.373C>T (p.Arg125Cys) GRCh37: Chr6:32006951 GRCh38: Chr6:32039174	CYP21A2, LOC106780800	R125C, R95C	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (Mar 10, 2021)	criteria provided, single submitter
Select item 167531519.	NM_000500.9(CYP21A2):c.1070G>A (p.Arg357Gln) GRCh37: Chr6:32008313 GRCh38: Chr6:32040536	CYP21A2, LOC106780800	R222Q, R327Q, R357Q	not provided, Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Conflicting interpretations of pathogenicity (Jun 3, 2022)	criteria provided, conflicting interpretations
Select item 167531420.	NM_000500.9(CYP21A2):c.1087G>C (p.Ala363Pro) GRCh37: Chr6:32008330 GRCh38: Chr6:32040553	CYP21A2, LOC106780800	A228P, A333P, A363P	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (Mar 10, 2021)	criteria provided, single submitter
Select item 167531321.	NM_000500.9(CYP21A2):c.1063C>T (p.Arg355Cys) GRCh37: Chr6:32008306 GRCh38: Chr6:32040529	CYP21A2, LOC106780800	R220C, R325C, R355C	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Likely pathogenic (Mar 10, 2021)	criteria provided, single submitter
Select item 134504222.	NM_000500.9(CYP21A2):c.738G>A (p.Lys246=) GRCh37: Chr6:32007612 GRCh38: Chr6:32039835	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (Mar 10, 2021)	criteria provided, single submitter
Select item 134504123.	NM_000500.9(CYP21A2):c.1064G>C (p.Arg355Pro) GRCh37: Chr6:32008307 GRCh38: Chr6:32040530	CYP21A2, LOC106780800	R325P, R355P, R220P	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (Mar 10, 2021)	criteria provided, single submitter
Select item 134504024.	NM_000500.9(CYP21A2):c.835G>A (p.Glu279Lys) GRCh37: Chr6:32007878 GRCh38: Chr6:32040101	CYP21A2, LOC106780800	E249K, E279K, E144K	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (Mar 10, 2021)	criteria provided, single submitter
Select item 134503925.	NM_000500.9(CYP21A2):c.1118+1G>A GRCh37: Chr6:32008362 GRCh38: Chr6:32040585	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Likely pathogenic (Mar 10, 2021)	criteria provided, single submitter
Select item 134503826.	NM_000500.9(CYP21A2):c.939+5G>A GRCh37: Chr6:32007987 GRCh38: Chr6:32040210	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (Mar 10, 2021)	criteria provided, single submitter
Select item 134503727.	NM_000500.9(CYP21A2):c.405del (p.Met136fs) GRCh37: Chr6:32006982 GRCh38: Chr6:32039205	CYP21A2, LOC106780800	M136fs, M106fs	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Likely pathogenic (Mar 10, 2021)	criteria provided, single submitter
Select item 134503628.	NM_000500.9(CYP21A2):c.652-1G>A GRCh37: Chr6:32007525 GRCh38: Chr6:32039748	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Likely pathogenic (Mar 10, 2021)	criteria provided, single submitter
Select item 134148529.	NM_000500.9(CYP21A2):c.1019G>A (p.Arg340His) GRCh37: Chr6:32008262 GRCh38: Chr6:32040485	CYP21A2, LOC106780800	R205H, R310H, R340H	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Pathogenic (Jul 26, 2023)	criteria provided, single submitter
Select item 132896530.	NM_000500.9(CYP21A2):c.1075G>A (p.Val359Ile) GRCh37: Chr6:32008318 GRCh38: Chr6:32040541	CYP21A2, LOC106780800	V224I, V329I, V359I	not provided	Uncertain significance (Jul 29, 2021)	criteria provided, single submitter
Select item 129704131.	NM_000500.9:c.(?_-50)_(939+1_940-1)del	CYP21A2		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Likely pathogenic (Jul 21, 2021)	criteria provided, single submitter
Select item 126433832.	NM_000103.4(CYP19A1):c.1142A>T (p.Asp381Val) GRCh37: Chr15:51504638 GRCh38: Chr15:51212441	CYP19A1, MIR4713HG, PIRC66	D381V	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance	criteria provided, single submitter
Select item 126433733.	NM_000500.9(CYP21A2):c.1042G>A (p.Ala348Thr) GRCh37: Chr6:32008285 GRCh38: Chr6:32040508	CYP21A2, LOC106780800	A213T, A318T, A348T	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Likely pathogenic	criteria provided, single submitter
Select item 126433634.	NM_000500.9(CYP21A2):c.143A>G (p.Tyr48Cys) GRCh37: Chr6:32006342 GRCh38: Chr6:32038565	CYP21A2, LOC106780800	Y48C	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 126433535.	NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro) GRCh37: Chr6:32008874 GRCh38: Chr6:32041097	CYP21A2, LOC106780800	R349P, R454P, R484P	not provided, Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Conflicting interpretations of pathogenicity (May 22, 2022)	criteria provided, conflicting interpretations
Select item 126432736.	NM_000500.9(CYP21A2):c.1274G>T (p.Gly425Val) GRCh37: Chr6:32008697 GRCh38: Chr6:32040920	CYP21A2, LOC106780800	G290V, G395V, G425V	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Likely pathogenic	criteria provided, single submitter
Select item 111999537.	NM_000500.9(CYP21A2):c.833dup (p.Glu279fs) GRCh37: Chr6:32007875-32007876 GRCh38: Chr6:32040098-32040099	CYP21A2, LOC106780800	E144fs, E249fs, E279fs	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Pathogenic (May 18, 2021)	no assertion criteria provided
Select item 111997938.	NM_000500.9(CYP21A2):c.651+2T>G GRCh37: Chr6:32007426 GRCh38: Chr6:32039649	LOC106780800, CYP21A2		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Pathogenic (May 18, 2021)	no assertion criteria provided
Select item 99809739.	NM_000500.9(CYP21A2):c.40G>T (p.Ala14Ser) GRCh37: Chr6:32006239 GRCh38: Chr6:32038462	CYP21A2, LOC106780800	A14S	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 99780840.	NM_000500.9(CYP21A2):c.1118+2T>C GRCh37: Chr6:32008363 GRCh38: Chr6:32040586	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Pathogenic (Apr 23, 2021)	criteria provided, single submitter
Select item 98849441.	NM_000500.9(CYP21A2):c.1070G>C (p.Arg357Pro) GRCh37: Chr6:32008313 GRCh38: Chr6:32040536	CYP21A2, LOC106780800	R222P, R327P, R357P	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, not provided	Conflicting interpretations of pathogenicity (Mar 10, 2021)	criteria provided, conflicting interpretations
Select item 98786742.	NM_001128590.1(CYP21A2):c.-113G>A GRCh37: Chr6:32006087 GRCh38: Chr6:32038310	LOC106780800, LOC110631417, CYP21A2		Congenital adrenal hyperplasia	Likely pathogenic (Mar 16, 2023)	criteria provided, single submitter
Select item 97801943.	NM_001395413.1(POR):c.822-35C>T GRCh37: Chr7:75612803 GRCh38: Chr7:75983485	LOC126860075, POR		not provided, Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign/Likely benign (Mar 3, 2015)	criteria provided, multiple submitters, no conflicts
Select item 80472844.	NM_000500.9(CYP21A2):c.803C>T (p.Pro268Leu) GRCh37: Chr6:32007846 GRCh38: Chr6:32040069	CYP21A2, LOC106780800	P133L, P238L, P268L	not provided, not specified, Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign/Likely benign (Dec 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80472545.	NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser) GRCh37: Chr6:32008696 GRCh38: Chr6:32040919	CYP21A2, LOC106780800	G290S, G425S, G395S	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, not provided	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80219846.	NM_000500.9(CYP21A2):c.797C>T (p.Ala266Val) GRCh37: Chr6:32007840 GRCh38: Chr6:32040063	CYP21A2, LOC106780800	A236V, A266V, A131V	not specified, Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Conflicting interpretations of pathogenicity (Feb 15, 2023)	criteria provided, conflicting interpretations
Select item 80219747.	NM_000500.9(CYP21A2):c.597A>T (p.Leu199Phe) GRCh37: Chr6:32007370 GRCh38: Chr6:32039593	CYP21A2, LOC106780800	L64F, L199F, L169F	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, not provided	Conflicting interpretations of pathogenicity (May 28, 2019)	criteria provided, conflicting interpretations
Select item 80092648.	NM_000500.9(CYP21A2):c.850A>G (p.Met284Val) GRCh37: Chr6:32007893 GRCh38: Chr6:32040116	CYP21A2, LOC106780800	M254V, M284V, M149V	not provided, Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Likely pathogenic (Mar 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80063449.	NM_000500.9(CYP21A2):c.782T>C (p.Met261Thr) GRCh37: Chr6:32007825 GRCh38: Chr6:32040048	LOC106780800, CYP21A2	M126T, M231T, M261T	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Likely pathogenic (May 24, 2019)	no assertion criteria provided
Select item 80063350.	NM_000500.9(CYP21A2):c.782T>G (p.Met261Arg) GRCh37: Chr6:32007825 GRCh38: Chr6:32040048	LOC106780800, CYP21A2	M126R, M231R, M261R	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Likely pathogenic (May 24, 2019)	no assertion criteria provided
Select item 80063251.	NM_000500.9(CYP21A2):c.754G>A (p.Gly252Ser) GRCh37: Chr6:32007797 GRCh38: Chr6:32040020	CYP21A2, LOC106780800	G117S, G222S, G252S	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Likely pathogenic (May 24, 2019)	no assertion criteria provided
Select item 80063152.	NM_000500.9(CYP21A2):c.739-74G>A GRCh37: Chr6:32007708 GRCh38: Chr6:32039931	LOC106780800, CYP21A2		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (May 24, 2019)	no assertion criteria provided
Select item 80063053.	NM_000500.9(CYP21A2):c.738+75C>T GRCh37: Chr6:32007687 GRCh38: Chr6:32039910	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80062954.	NM_000500.9(CYP21A2):c.724C>G (p.Leu242Val) GRCh37: Chr6:32007598 GRCh38: Chr6:32039821	CYP21A2, LOC106780800	L107V, L212V, L242V	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (May 24, 2019)	no assertion criteria provided
Select item 80062855.	NM_000500.9(CYP21A2):c.652-5C>T GRCh37: Chr6:32007521 GRCh38: Chr6:32039744	LOC106780800, CYP21A2		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80062756.	NM_000500.9(CYP21A2):c.651+35A>G GRCh37: Chr6:32007459 GRCh38: Chr6:32039682	LOC106780800, CYP21A2		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80062657.	NM_000500.9(CYP21A2):c.651+30G>A GRCh37: Chr6:32007454 GRCh38: Chr6:32039677	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80062558.	NM_000500.9(CYP21A2):c.559T>G (p.Leu187Val) GRCh37: Chr6:32007332 GRCh38: Chr6:32039555	LOC106780800, CYP21A2	L157V, L187V, L52V	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Likely pathogenic (May 24, 2019)	no assertion criteria provided
Select item 80062459.	NM_000500.9(CYP21A2):c.550-19C>G GRCh37: Chr6:32007304 GRCh38: Chr6:32039527	LOC106780800, CYP21A2		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80062360.	NM_000500.9(CYP21A2):c.540C>G (p.Asp180Glu) GRCh37: Chr6:32007225 GRCh38: Chr6:32039448	LOC106780800, CYP21A2	D150E, D180E, D45E	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (May 24, 2019)	no assertion criteria provided
Select item 80062261.	NM_000500.9(CYP21A2):c.525C>A (p.Tyr175Ter) GRCh37: Chr6:32007210 GRCh38: Chr6:32039433	LOC106780800, CYP21A2	Y145, Y175, Y40*	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Pathogenic (May 24, 2019)	no assertion criteria provided
Select item 80062162.	NM_000500.9(CYP21A2):c.509G>A (p.Cys170Tyr) GRCh37: Chr6:32007194 GRCh38: Chr6:32039417	CYP21A2, LOC106780800	C140Y, C170Y, C35Y	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Pathogenic (May 24, 2019)	no assertion criteria provided
Select item 80062063.	NM_000500.9(CYP21A2):c.500T>G (p.Leu167Arg) GRCh37: Chr6:32007185 GRCh38: Chr6:32039408	LOC106780800, CYP21A2	L137R, L167R, L32R	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (May 24, 2019)	no assertion criteria provided
Select item 80061964.	NM_000500.9(CYP21A2):c.499C>G (p.Leu167Val) GRCh37: Chr6:32007184 GRCh38: Chr6:32039407	LOC106780800, CYP21A2	L137V, L167V, L32V	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (May 24, 2019)	no assertion criteria provided
Select item 80061865.	NM_000500.9(CYP21A2):c.485A>G (p.Glu162Gly) GRCh37: Chr6:32007170 GRCh38: Chr6:32039393	LOC106780800, CYP21A2	E132G, E162G, E27G	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (May 24, 2019)	no assertion criteria provided
Select item 80061766.	NM_000500.9(CYP21A2):c.448-3C>T GRCh37: Chr6:32007130 GRCh38: Chr6:32039353	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80061667.	NM_000500.9(CYP21A2):c.448-50G>A GRCh37: Chr6:32007083 GRCh38: Chr6:32039306	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80061568.	NM_000500.9(CYP21A2):c.447+39G>A GRCh37: Chr6:32007064 GRCh38: Chr6:32039287	LOC106780800, CYP21A2		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80061469.	NM_000500.9(CYP21A2):c.447+38C>T GRCh37: Chr6:32007063 GRCh38: Chr6:32039286	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80061370.	NM_000500.9(CYP21A2):c.405C>T (p.Ser135=) GRCh37: Chr6:32006983 GRCh38: Chr6:32039206	LOC106780800, CYP21A2		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80061271.	NM_000500.9(CYP21A2):c.382C>T (p.Leu128=) GRCh37: Chr6:32006960 GRCh38: Chr6:32039183	LOC106780800, CYP21A2		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80061172.	NM_000500.9(CYP21A2):c.322C>T (p.Leu108=) GRCh37: Chr6:32006900 GRCh38: Chr6:32039123	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80061073.	NM_000500.9(CYP21A2):c.*18C>T GRCh37: Chr6:32008929 GRCh38: Chr6:32041152	CYP21A2		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80060974.	NM_000500.9(CYP21A2):c.*2G>C GRCh37: Chr6:32008913 GRCh38: Chr6:32041136	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80060875.	NM_000500.9(CYP21A2):c.1450dup (p.Arg484fs) GRCh37: Chr6:32008869-32008870 GRCh38: Chr6:32041092-32041093	CYP21A2, LOC106780800	R349fs, R484fs, R454fs	not provided	Likely pathogenic (Apr 3, 2019)	criteria provided, single submitter
Select item 80060776.	NM_000500.9(CYP21A2):c.1447C>A (p.Pro483Thr) GRCh37: Chr6:32008870 GRCh38: Chr6:32041093	LOC106780800, CYP21A2	P348T, P453T, P483T	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (May 24, 2019)	no assertion criteria provided
Select item 80060677.	NM_000500.9(CYP21A2):c.1405A>G (p.Ser469Gly) GRCh37: Chr6:32008828 GRCh38: Chr6:32041051	CYP21A2, LOC106780800	S334G, S439G, S469G	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (May 24, 2019)	no assertion criteria provided
Select item 80060578.	NM_000500.9(CYP21A2):c.1371C>A (p.Asp457Glu) GRCh37: Chr6:32008794 GRCh38: Chr6:32041017	LOC106780800, CYP21A2	D322E, D427E, D457E	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (May 24, 2019)	no assertion criteria provided
Select item 80060479.	NM_000500.9(CYP21A2):c.1320C>T (p.Phe440=) GRCh37: Chr6:32008743 GRCh38: Chr6:32040966	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80060380.	NM_000500.9(CYP21A2):c.1298C>G (p.Pro433Arg) GRCh37: Chr6:32008721 GRCh38: Chr6:32040944	CYP21A2, LOC106780800	P298R, P403R, P433R	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (May 24, 2019)	no assertion criteria provided
Select item 80060281.	NM_000500.9(CYP21A2):c.1291G>A (p.Gly431Ser) GRCh37: Chr6:32008714 GRCh38: Chr6:32040937	LOC106780800, CYP21A2	G296S, G401S, G431S	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Pathogenic (May 24, 2019)	no assertion criteria provided
Select item 80060182.	NM_000500.9(CYP21A2):c.1272C>A (p.Cys424Ter) GRCh37: Chr6:32008695 GRCh38: Chr6:32040918	CYP21A2, LOC106780800	C289, C394, C424*	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Pathogenic (May 24, 2019)	no assertion criteria provided
Select item 80060083.	NM_000500.9(CYP21A2):c.1223-3C>G GRCh37: Chr6:32008643 GRCh38: Chr6:32040866	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (May 24, 2019)	no assertion criteria provided
Select item 80059984.	NM_000500.9(CYP21A2):c.1223-21C>T GRCh37: Chr6:32008625 GRCh38: Chr6:32040848	LOC106780800, TNXB, CYP21A2		not provided	Likely benign (May 23, 2021)	criteria provided, single submitter
Select item 80059885.	NM_000500.9(CYP21A2):c.1201A>G (p.Arg401Gly) GRCh37: Chr6:32008527 GRCh38: Chr6:32040750	LOC106780800, CYP21A2	R266G, R371G, R401G	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (May 24, 2019)	no assertion criteria provided
Select item 80059786.	NM_000500.9(CYP21A2):c.1170A>T (p.Gln390His) GRCh37: Chr6:32008496 GRCh38: Chr6:32040719	LOC106780800, CYP21A2	Q255H, Q360H, Q390H	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (May 24, 2019)	no assertion criteria provided
Select item 80059687.	NM_000500.9(CYP21A2):c.1132G>T (p.Asp378Tyr) GRCh37: Chr6:32008458 GRCh38: Chr6:32040681	CYP21A2, LOC106780800	D243Y, D348Y, D378Y	not specified	Uncertain significance (Apr 24, 2023)	criteria provided, single submitter
Select item 80059588.	NM_000500.9(CYP21A2):c.1109G>C (p.Arg370Pro) GRCh37: Chr6:32008352 GRCh38: Chr6:32040575	LOC106780800, CYP21A2	R235P, R340P, R370P	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (May 24, 2019)	no assertion criteria provided
Select item 80059489.	NM_000500.9(CYP21A2):c.856G>T (p.Ala286Ser) GRCh37: Chr6:32007899 GRCh38: Chr6:32040122	CYP21A2, LOC106780800	A151S, A256S, A286S	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (May 24, 2019)	no assertion criteria provided
Select item 80059390.	NM_000500.9(CYP21A2):c.293-80G>A GRCh37: Chr6:32006791 GRCh38: Chr6:32039014	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80059291.	NM_000500.9(CYP21A2):c.293-88G>A GRCh37: Chr6:32006783 GRCh38: Chr6:32039006	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80059192.	NM_000500.9(CYP21A2):c.293-89A>G GRCh37: Chr6:32006782 GRCh38: Chr6:32039005	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80059093.	NM_000500.9(CYP21A2):c.293-91G>A GRCh37: Chr6:32006780 GRCh38: Chr6:32039003	LOC106780800, CYP21A2		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80058994.	NM_000500.9(CYP21A2):c.293-94T>A GRCh37: Chr6:32006777 GRCh38: Chr6:32039000	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80058895.	NM_000500.9(CYP21A2):c.293-95G>C GRCh37: Chr6:32006776 GRCh38: Chr6:32038999	LOC106780800, CYP21A2		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80058796.	NM_000500.9(CYP21A2):c.293-96G>T GRCh37: Chr6:32006775 GRCh38: Chr6:32038998	LOC106780800, CYP21A2		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80058697.	NM_000500.9(CYP21A2):c.293-115C>G GRCh37: Chr6:32006756 GRCh38: Chr6:32038979	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80058598.	NM_000500.9(CYP21A2):c.293-130C>T GRCh37: Chr6:32006741 GRCh38: Chr6:32038964	LOC106780800, CYP21A2		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Benign (May 24, 2019)	no assertion criteria provided
Select item 80058499.	NM_000500.9(CYP21A2):c.293-100_293-99insG GRCh37: Chr6:32006771-32006772 GRCh38: Chr6:32038994-32038995	LOC106780800, CYP21A2		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (May 24, 2019)	no assertion criteria provided
Select item 800583100.	NM_000500.9(CYP21A2):c.293-131_293-129dup GRCh37: Chr6:32006739-32006740 GRCh38: Chr6:32038962-32038963	CYP21A2, LOC106780800		Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Uncertain significance (May 24, 2019)	no assertion criteria provided

<< First< Prev

Page of 2