"Illumina Laboratory Services, Illumina"[submitter] AND "CYP11B1"[gene - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 119

<< First< Prev

Page of 2

	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)	Glucocorticoid-remediable aldosteronism +1 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)	Glucocorticoid-remediable aldosteronism +1 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)	Glucocorticoid-remediable aldosteronism +1 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)	Glucocorticoid-remediable aldosteronism +1 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)	Glucocorticoid-remediable aldosteronism +1 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)	not provided +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)	not provided +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)	not provided +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)	Glucocorticoid-remediable aldosteronism +1 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)	Deficiency of steroid 11-beta-monooxygenase +1 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)	Glucocorticoid-remediable aldosteronism +1 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 +1 more	GBenign/Likely benign
Select item 362143	NM_000497.4(CYP11B1):c.*132T>C	CYP11B1, LOC106799833	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 362144	NM_000497.4(CYP11B1):c.1488C>T (p.Leu496=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GConflicting classifications of pathogenicity
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 362145	NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp)	LOC106799833, CYP11B1 (V484D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 362146	NM_000497.4(CYP11B1):c.1399-14G>C	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 362147	NM_000497.4(CYP11B1):c.1353T>C (p.Leu451=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant +1 more)	Deficiency of steroid 11-beta-monooxygenase +3 more	GBenign/Likely benign
Select item 362148	NM_000497.4(CYP11B1):c.1205T>C (p.Leu402Ser)	CYP11B1, LOC106799833 (L402S)	Single nucleotide variant (missense variant +1 more)	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 362149	NM_000497.4(CYP11B1):c.1157C>T (p.Ala386Val)	CYP11B1, LOC106799833 (A386V)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GBenign
Select item 35985	NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 35981	NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Deficiency of steroid 11-beta-monooxygenase +3 more	GBenign/Likely benign
Select item 362150	NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GBenign/Likely benign
Select item 362151	NM_000497.4(CYP11B1):c.1090T>C (p.Leu364=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 362152	NM_000497.4(CYP11B1):c.1086G>C (p.Leu362=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GBenign
Select item 362153	NM_000497.4(CYP11B1):c.1042G>A (p.Ala348Thr)	CYP11B1, LOC106799833 (A348T)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +3 more	GConflicting classifications of pathogenicity
Select item 362154	NM_000497.4(CYP11B1):c.1014G>A (p.Gln338=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 35977	NM_000497.4(CYP11B1):c.1003A>G (p.Asn335Asp)	CYP11B1, LOC106799833 (N335D)	Single nucleotide variant (missense variant)	not specified +4 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 362155	NM_000497.4(CYP11B1):c.954+9G>C	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GConflicting classifications of pathogenicity
Select item 362156	NM_000497.4(CYP11B1):c.930A>G (p.Glu310=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +2 more	GLikely benign
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 362157	NM_000497.4(CYP11B1):c.873G>A (p.Ala291=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 362158	NM_000497.4(CYP11B1):c.825T>C (p.Tyr275=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 362159	NM_000497.4(CYP11B1):c.823T>C (p.Tyr275His)	CYP11B1, LOC106799833 (Y275H)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +2 more	GConflicting classifications of pathogenicity
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 362160	NM_000497.4(CYP11B1):c.800-14C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GBenign
Select item 362161	NM_000497.4(CYP11B1):c.748C>T (p.Pro250Ser)	CYP11B1, LOC106799833 (P250S)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +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 362162	NM_000497.4(CYP11B1):c.743C>T (p.Thr248Ile)	CYP11B1, LOC106799833 (T248I)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +3 more	GBenign/Likely benign
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 910172	NM_000497.4(CYP11B1):c.632T>C (p.Leu211Pro)	CYP11B1, LOC106799833 (L211P)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +2 more	GUncertain significance
Select item 362163	NM_000497.4(CYP11B1):c.606G>A (p.Leu202=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 362164	NM_000497.4(CYP11B1):c.595+12G>A	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GBenign
Select item 362165	NM_000497.4(CYP11B1):c.554C>G (p.Thr185Ser)	CYP11B1, LOC106799833 (T185S)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +2 more	GBenign/Likely benign
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 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 912290	NM_000497.4(CYP11B1):c.450G>A (p.Ser150=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2