ClinVar for MedGen (Select 824577) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2735226	NM_000497.4(CYP11B1):c.1150C>T (p.Arg384Ter)	CYP11B1, LOC106799833 (R384*)	Single nucleotide variant (nonsense)	Glucocorticoid-remediable aldosteronism +1 more	GPathogenic/Likely pathogenic
Select item 1685685	NM_000497.4(CYP11B1):c.799G>A (p.Gly267Ser)	CYP11B1, LOC106799833 (G267S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1683257	NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs)	CYP11B1, LOC106799833 (R454fs)	Duplication (frameshift variant +1 more)	Deficiency of steroid 11-beta-monooxygenase +2 more	GPathogenic/Likely pathogenic
Select item 1594674	NM_000497.4(CYP11B1):c.627G>T (p.Leu209=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GLikely benign
Select item 1592181	NM_000497.4(CYP11B1):c.799+17G>A	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GBenign/Likely benign
Select item 1571198	NM_000497.4(CYP11B1):c.396-9C>T	LOC106799833, CYP11B1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1338281	NM_000497.4(CYP11B1):c.457G>A (p.Ala153Thr)	CYP11B1, LOC106799833 (A153T)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GUncertain significance
Select item 1256566	NM_000497.4(CYP11B1):c.899C>G (p.Ser300Trp)	CYP11B1, LOC106799833 (S300W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1179123	NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val)	CYP11B1, LOC106799833 (A297V)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GLikely pathogenic
Select item 1142621	NM_000497.4(CYP11B1):c.948G>C (p.Val316=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1140566	NM_000497.4(CYP11B1):c.222A>G (p.Glu74=)	CYP11B1	Single nucleotide variant (synonymous variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GLikely benign
Select item 1130474	NM_000497.4(CYP11B1):c.157C>T (p.Leu53=)	CYP11B1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1120327	NM_000497.4(CYP11B1):c.1389G>C (p.Leu463=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant +1 more)	Deficiency of steroid 11-beta-monooxygenase +2 more	GLikely benign
Select item 1116765	NM_000497.4(CYP11B1):c.270T>C (p.Cys90=)	CYP11B1	Single nucleotide variant (synonymous variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GLikely benign
Select item 1099048	NM_000497.4(CYP11B1):c.1440C>T (p.Asp480=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +2 more	GLikely benign
Select item 1095297	NM_000497.4(CYP11B1):c.537C>T (p.Asn179=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1085751	NM_000497.4(CYP11B1):c.1227T>G (p.Ser409=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant +1 more)	Glucocorticoid-remediable aldosteronism +2 more	GLikely benign
Select item 1081537	NM_000497.4(CYP11B1):c.596-8C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1072465	NM_000497.4(CYP11B1):c.726del (p.Ser243fs)	CYP11B1, LOC106799833 (S243fs)	Deletion (frameshift variant)	Congenital adrenal hyperplasia +3 more	GPathogenic/Likely pathogenic
Select item 1050514	NM_000497.4(CYP11B1):c.29G>A (p.Cys10Tyr)	CYP11B1, LOC110673972 (C10Y)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +2 more	GLikely benign
Select item 1030831	NM_000497.4(CYP11B1):c.1343G>C (p.Arg448Pro)	CYP11B1, LOC106799833 (R448P)	Single nucleotide variant (missense variant +1 more)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic
Select item 932068	NM_000497.4(CYP11B1):c.766C>T (p.His256Tyr)	CYP11B1, LOC106799833 (H256Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 931327	NM_000497.4(CYP11B1):c.1399-14G>A	LOC106799833, CYP11B1	Single nucleotide variant (intron variant)	Glucocorticoid-remediable aldosteronism	GUncertain significance
Select item 912290	NM_000497.4(CYP11B1):c.450G>A (p.Ser150=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GConflicting classifications of pathogenicity
Select item 912289	NM_000497.4(CYP11B1):c.541C>T (p.Arg181Trp)	CYP11B1, LOC106799833 (R181W)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 912288	NM_000497.4(CYP11B1):c.542G>C (p.Arg181Pro)	CYP11B1, LOC106799833 (R181P)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +2 more	GConflicting classifications of pathogenicity
Select item 912228	NM_000497.4(CYP11B1):c.912C>G (p.Ile304Met)	CYP11B1, LOC106799833 (I304M)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 912157	NM_000497.4(CYP11B1):c.1200+11C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 912092	NM_000497.4(CYP11B1):c.*390A>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 911986	NM_000497.4(CYP11B1):c.*1253G>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 911927	NM_000497.4(CYP11B1):c.*1550C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 911712	NM_000498.3(CYP11B2):c.845G>A (p.Arg282His)	CYP11B2, LOC106799834 (R282H)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911520	NM_000498.3(CYP11B2):c.*25A>C	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911397	NM_000498.3(CYP11B2):c.*876C>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911396	NM_000498.3(CYP11B2):c.*879G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911340	NM_000497.4(CYP11B1):c.206A>G (p.His69Arg)	CYP11B1 (H69R)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
Select item 911339	NM_000497.4(CYP11B1):c.218A>G (p.Gln73Arg)	CYP11B1 (Q73R)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 911266	NM_000498.3(CYP11B2):c.*591T>G	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911265	NM_000498.3(CYP11B2):c.*613C>T	LOC106799834, CYP11B2	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911201	NM_000498.3(CYP11B2):c.*993A>G	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911052	NM_000497.4(CYP11B1):c.595+14G>A	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GConflicting classifications of pathogenicity
Select item 910996	NM_000497.4(CYP11B1):c.957G>A (p.Thr319=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 910935	NM_000497.4(CYP11B1):c.1465T>C (p.Leu489=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 910765	NM_000497.4(CYP11B1):c.*1264A>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 910764	NM_000497.4(CYP11B1):c.*1296A>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 910763	NM_000497.4(CYP11B1):c.*1313C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 910703	NM_000497.4(CYP11B1):c.*1623G>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 910599	NM_000498.3(CYP11B2):c.427C>T (p.Arg143Trp)	CYP11B2, LOC106799834 (R143W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 910598	NM_000498.3(CYP11B2):c.449C>T (p.Ser150Leu)	CYP11B2, LOC106799834 (S150L)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 910373	NM_000498.3(CYP11B2):c.1201-9C>G	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 910372	NM_000498.3(CYP11B2):c.1216T>G (p.Phe406Val)	CYP11B2, LOC106799834 (F406V)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 910310	NM_000498.3(CYP11B2):c.*205G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 910245	NM_000497.4(CYP11B1):c.244G>A (p.Asp82Asn)	CYP11B1 (D82N)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +1 more	GConflicting classifications of pathogenicity
Select item 910244	NM_000497.4(CYP11B1):c.263T>C (p.Met88Thr)	CYP11B1 (M88T)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 910243	NM_000497.4(CYP11B1):c.334A>C (p.Ser112Arg)	CYP11B1 (S112R)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 910172	NM_000497.4(CYP11B1):c.632T>C (p.Leu211Pro)	CYP11B1, LOC106799833 (L211P)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GUncertain significance
Select item 910171	NM_000497.4(CYP11B1):c.736C>T (p.Arg246Cys)	CYP11B1, LOC106799833 (R246C)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +1 more	GConflicting classifications of pathogenicity
Select item 910040	NM_000497.4(CYP11B1):c.*193A>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign/Likely benign
Select item 910039	NM_000497.4(CYP11B1):c.*244C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 909978	NM_000497.4(CYP11B1):c.*516A>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 909977	NM_000497.4(CYP11B1):c.*596C>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 909976	NM_000497.4(CYP11B1):c.*607C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 909920	NM_000497.4(CYP11B1):c.*946G>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
Select item 909919	NM_000497.4(CYP11B1):c.*1012A>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 909869	NM_000497.4(CYP11B1):c.*1476G>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 909802	NM_000497.4(CYP11B1):c.*1929A>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 909801	NM_000497.4(CYP11B1):c.*1944G>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 909735	NM_000498.3(CYP11B2):c.157C>T (p.Leu53=)	LOC106799834, CYP11B2	Single nucleotide variant (synonymous variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 909610	NM_000498.3(CYP11B2):c.796T>G (p.Tyr266Asp)	CYP11B2, LOC106799834 (Y266D)	Single nucleotide variant (missense variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GUncertain significance
Select item 909551	NM_000498.3(CYP11B2):c.924T>C (p.Ser308=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 909422	NM_000498.3(CYP11B2):c.1343G>A (p.Arg448His)	CYP11B2, LOC106799834 (R448H)	Single nucleotide variant (missense variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 909344	NM_000498.3(CYP11B2):c.*298C>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone methyloxidase type 2 deficiency +2 more	GUncertain significance
Select item 909134	NM_000497.4(CYP11B1):c.*614C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
Select item 909005	NM_000497.4(CYP11B1):c.*1511C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
Select item 908941	NM_000497.4(CYP11B1):c.*1979G>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 908874	NM_000498.3(CYP11B2):c.280C>T (p.Pro94Ser)	CYP11B2, LOC106799834 (P94S)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 908695	NM_000498.3(CYP11B2):c.979C>T (p.Leu327Phe)	CYP11B2, LOC106799834 (L327F)	Single nucleotide variant (missense variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 908631	NM_000498.3(CYP11B2):c.1136G>T (p.Gly379Val)	CYP11B2, LOC106799834 (G379V)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 908562	NM_000498.3(CYP11B2):c.1398+10C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone 18-monooxygenase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 908561	NM_000498.3(CYP11B2):c.1441A>T (p.Ile481Leu)	CYP11B2, LOC106799834 (I481L)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 908560	NM_000498.3(CYP11B2):c.1454A>G (p.Tyr485Cys)	CYP11B2, LOC106799834 (Y485C)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 908421	NM_000498.3(CYP11B2):c.*759A>T	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 908354	NM_000498.3(CYP11B2):c.*1277G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 908353	NM_000498.3(CYP11B2):c.*1340T>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 908352	NM_000497.4(CYP11B1):c.107T>G (p.Leu36Arg)	CYP11B1 (L36R)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
Select item 908223	NM_000497.4(CYP11B1):c.746G>A (p.Ser249Asn)	CYP11B1, LOC106799833 (S249N)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
Select item 908222	NM_000497.4(CYP11B1):c.802G>A (p.Asp268Asn)	CYP11B1, LOC106799833 (D268N)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 908087	NM_000497.4(CYP11B1):c.*317T>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 908086	NM_000497.4(CYP11B1):c.*345C>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 857403	NM_000497.4(CYP11B1):c.1358G>A (p.Arg453Gln)	CYP11B1, LOC106799833 (R453Q)	Single nucleotide variant (missense variant +1 more)	Congenital adrenal hyperplasia +3 more	GPathogenic
Select item 795339	NM_000498.3(CYP11B2):c.1086G>C (p.Leu362=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 783026	NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr)	LOC106799834, CYP11B2 (I248T)	Single nucleotide variant (missense variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 771601	NM_000497.4(CYP11B1):c.395+10G>A	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 766877	NM_000497.4(CYP11B1):c.89G>A (p.Arg30Gln)	CYP11B1, LOC110673972 (R30Q)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 766470	NM_000498.3(CYP11B2):c.342G>A (p.Glu114=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 741055	NM_000498.3(CYP11B2):c.1353C>T (p.Leu451=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GBenign/Likely benign
Select item 740402	NM_000498.3(CYP11B2):c.9C>A (p.Leu3=)	LOC106799834, CYP11B2	Single nucleotide variant (synonymous variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 736025	NM_000497.4(CYP11B1):c.1038C>T (p.Ala346=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +2 more	GLikely benign
Select item 716151	NM_000498.3(CYP11B2):c.85G>A (p.Ala29Thr)	CYP11B2, LOC106799834 (A29T)	Single nucleotide variant (missense variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GBenign
Select item 706840	NM_000497.4(CYP11B1):c.395+6C>T	CYP11B1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity

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