CYP11B1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 362103	NM_000497.4(CYP11B1):c.*1871T>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign/Likely benign
Select item 362104	NM_000497.4(CYP11B1):c.*1852T>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GBenign
Select item 362105	NM_000497.4(CYP11B1):c.*1770A>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 362106	NM_000497.4(CYP11B1):c.*1622C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362107	NM_000497.4(CYP11B1):c.*1590G>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
Select item 362108	NM_000497.4(CYP11B1):c.*1566G>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 362109	NM_000497.4(CYP11B1):c.*1555del	CYP11B1	Deletion (3 prime UTR variant)	Congenital adrenal hyperplasia +1 more	GLikely benign
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 362110	NM_000497.4(CYP11B1):c.*1512G>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign/Likely benign
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 362111	NM_000497.4(CYP11B1):c.*1499C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GBenign
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 362112	NM_000497.4(CYP11B1):c.*1435T>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362113	NM_000497.4(CYP11B1):c.*1417G>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 362114	NM_000497.4(CYP11B1):c.*1358T>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +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 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 362115	NM_000497.4(CYP11B1):c.*1288A>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
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 362116	NM_000497.4(CYP11B1):c.*1258G>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign/Likely benign
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 362117	NM_000497.4(CYP11B1):c.*1209C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362118	NM_000497.4(CYP11B1):c.*1164G>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
Select item 362119	NM_000497.4(CYP11B1):c.*1138del	CYP11B1	Deletion (3 prime UTR variant)	Congenital adrenal hyperplasia +1 more	GLikely benign
Select item 362120	NM_000497.4(CYP11B1):c.*1076C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign/Likely benign
Select item 362121	NM_000497.4(CYP11B1):c.*1042A>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 362122	NM_000497.4(CYP11B1):c.*1020C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GBenign
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 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 362123	NM_000497.4(CYP11B1):c.*923G>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +2 more	GBenign
Select item 362124	NM_000497.4(CYP11B1):c.*901G>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362125	NM_000497.4(CYP11B1):c.*857T>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362126	NM_000497.4(CYP11B1):c.*848C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GConflicting classifications of pathogenicity
Select item 362127	NM_000497.4(CYP11B1):c.*738G>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GBenign
Select item 362128	NM_000497.4(CYP11B1):c.*737C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Congenital adrenal hyperplasia +1 more	GUncertain significance
Select item 362129	NM_000497.4(CYP11B1):c.*718T>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign/Likely benign
Select item 362130	NM_000497.4(CYP11B1):c.*694T>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 362131	NM_000497.4(CYP11B1):c.*670A>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
Select item 362132	NM_000497.4(CYP11B1):c.*634G>A	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GBenign/Likely benign
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 362133	NM_000497.4(CYP11B1):c.*613A>G	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 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 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 362134	NM_000497.4(CYP11B1):c.*516A>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 362135	NM_000497.4(CYP11B1):c.*495C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362136	NM_000497.4(CYP11B1):c.*485C>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
Select item 362137	NM_000497.4(CYP11B1):c.*471A>C	CYP11B1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 362138	NM_000497.4(CYP11B1):c.*468C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GBenign/Likely benign
Select item 362139	NM_000497.4(CYP11B1):c.*400C>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
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 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 362140	NM_000497.4(CYP11B1):c.*318A>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
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 362141	NM_000497.4(CYP11B1):c.*245C>G	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid-remediable aldosteronism +1 more	GUncertain significance
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 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 362142	NM_000497.4(CYP11B1):c.*193A>T	CYP11B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GBenign/Likely benign
Select item 1106025	NM_000497.4(CYP11B1):c.395+9C>G	CYP11B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 434878	NM_000497.4(CYP11B1):c.395+9C>T	CYP11B1	Single nucleotide variant (intron variant)	Deficiency of steroid 11-beta-monooxygenase +3 more	GConflicting classifications of pathogenicity
Select item 1653179	NM_000497.4(CYP11B1):c.395+8G>T	CYP11B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747621	NM_000497.4(CYP11B1):c.395+7G>C	CYP11B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 772010	NM_000497.4(CYP11B1):c.395+7G>A	CYP11B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 706840	NM_000497.4(CYP11B1):c.395+6C>T	CYP11B1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 557677	NM_000497.4(CYP11B1):c.395+1G>C	CYP11B1	Single nucleotide variant (splice donor variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1907719	NM_000497.4(CYP11B1):c.392del (p.Leu131fs)	CYP11B1 (L131fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 706425	NM_000497.4(CYP11B1):c.391T>C (p.Leu131=)	CYP11B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2051667	NM_000497.4(CYP11B1):c.385G>C (p.Val129Leu)	CYP11B1 (V129L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 557262	NM_000497.4(CYP11B1):c.385G>A (p.Val129Met)	CYP11B1 (V129M)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GUncertain significance
Select item 362166	NM_000497.4(CYP11B1):c.375C>G (p.His125Gln)	CYP11B1 (H125Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 555538	NM_000497.4(CYP11B1):c.374A>G (p.His125Arg)	CYP11B1 (H125R)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase	GUncertain significance
Select item 551998	NM_000497.4(CYP11B1):c.372del (p.His125fs)	CYP11B1 (H125fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GPathogenic
Select item 759018	NM_000497.4(CYP11B1):c.369T>C (p.Arg123=)	CYP11B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3353687	NM_000497.4(CYP11B1):c.367C>G (p.Arg123Gly)	CYP11B1 (R123G)	Single nucleotide variant (missense variant)	CYP11B1-related disorder	GUncertain significance
Select item 2681091	NM_000497.4(CYP11B1):c.360del (p.Arg120fs)	CYP11B1 (R120fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 585764	NM_000497.4(CYP11B1):c.357C>T (p.Tyr119=)	CYP11B1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1141260	NM_000497.4(CYP11B1):c.351G>A (p.Val117=)	CYP11B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1458049	NM_000497.4(CYP11B1):c.348G>C (p.Trp116Cys)	CYP11B1 (W116C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 970711	NM_000497.4(CYP11B1):c.348delinsCT (p.Trp116fs)	CYP11B1 (W116fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1176	NM_000497.4(CYP11B1):c.347G>A (p.Trp116Ter)	CYP11B1 (W116*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase	GPathogenic
Select item 553208	NM_000497.4(CYP11B1):c.346T>G (p.Trp116Gly)	CYP11B1 (W116G)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GConflicting classifications of pathogenicity
Select item 2840766	NM_000497.4(CYP11B1):c.345C>A (p.Pro115=)	CYP11B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 551876	NM_000497.4(CYP11B1):c.317_344del (p.Leu106fs)	CYP11B1 (L106fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic
Select item 1544813	NM_000497.4(CYP11B1):c.339G>A (p.Leu113=)	CYP11B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 585763	NM_000497.4(CYP11B1):c.338T>G (p.Leu113Arg)	CYP11B1 (L113R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2517232	NM_000497.4(CYP11B1):c.335G>T (p.Ser112Ile)	CYP11B1 (S112I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1978116	NM_000497.4(CYP11B1):c.330G>A (p.Arg110=)	CYP11B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2733582	NM_000497.4(CYP11B1):c.326A>T (p.His109Leu)	CYP11B1 (H109L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086348	NM_000497.4(CYP11B1):c.318G>A (p.Leu106=)	CYP11B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800004	NM_000497.4(CYP11B1):c.316C>T (p.Leu106=)	CYP11B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 554812	NM_000497.4(CYP11B1):c.304C>T (p.Gln102Ter)	CYP11B1 (Q102*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 2751013	NM_000497.4(CYP11B1):c.301C>T (p.Gln101Ter)	CYP11B1 (Q101*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2021907	NM_000497.4(CYP11B1):c.298C>T (p.Leu100=)	CYP11B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1536512	NM_000497.4(CYP11B1):c.297G>A (p.Lys99=)	CYP11B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 704566	NM_000497.4(CYP11B1):c.294G>A (p.Glu98=)	CYP11B1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign

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