C0268292[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2681084	NM_000497.4(CYP11B1):c.1399-1G>C	CYP11B1, LOC106799833	Single nucleotide variant (splice acceptor variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 585760	NM_000497.4(CYP11B1):c.1398+5G>C	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 2681085	NM_000497.4(CYP11B1):c.1379TGC[6] (p.Leu464_His465insLeu)	CYP11B1, LOC106799833	Microsatellite (inframe insertion +1 more)	Deficiency of steroid 11-beta-monooxygenase	GLikely 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 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 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 1171	NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)	CYP11B1, LOC106799833 (R448H)	Single nucleotide variant (missense variant +1 more)	Deficiency of steroid 11-beta-monooxygenase +2 more	GPathogenic/Likely pathogenic
Select item 1459491	NM_000497.4(CYP11B1):c.1342C>T (p.Arg448Cys)	CYP11B1, LOC106799833 (R448C)	Single nucleotide variant (missense variant +1 more)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic
Select item 235678	NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp)	CYP11B1, LOC106799833 (G444D)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1185	NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter)	CYP11B1, LOC106799833 (Y423*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1264339	NM_000497.4(CYP11B1):c.1201-1G>A	CYP11B1, LOC106799833	Single nucleotide variant (splice acceptor variant +1 more)	Deficiency of steroid 11-beta-monooxygenase	GPathogenic/Likely pathogenic
Select item 2681082	NM_000497.4(CYP11B1):c.1201-9C>A	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 2681089	NM_000497.4(CYP11B1):c.1200+1G>T	CYP11B1, LOC106799833	Single nucleotide variant (splice donor variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1403418	NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)	CYP11B1, LOC106799833 (N394fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2681087	NM_000497.4(CYP11B1):c.1150_1153del (p.Arg384fs)	CYP11B1, LOC106799833 (R384fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GPathogenic
Select item 552238	NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln)	CYP11B1, LOC106799833 (R384Q)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GPathogenic/Likely pathogenic
Select item 557468	NM_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg)	CYP11B1, LOC106799833 (L382R)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +1 more	GConflicting classifications of pathogenicity
Select item 3241261	NM_000497.4(CYP11B1):c.1136del (p.Gly379fs)	CYP11B1, LOC106799833 (G379fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 948654	NM_000497.4(CYP11B1):c.1136G>T (p.Gly379Val)	CYP11B1, LOC106799833 (G379V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 555319	NM_000497.4(CYP11B1):c.1128C>A (p.Tyr376Ter)	CYP11B1, LOC106799833 (Y376*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 2681081	NM_000497.4(CYP11B1):c.1122-2A>G	CYP11B1, LOC106799833	Single nucleotide variant (splice acceptor variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1174	NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln)	CYP11B1, LOC106799833 (R374Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 35982	NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp)	CYP11B1, LOC106799833 (R374W)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +3 more	GPathogenic/Likely pathogenic
Select item 2681088	NM_000497.4(CYP11B1):c.1080del (p.Glu361fs)	CYP11B1, LOC106799833 (E361fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 56830	NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter)	CYP11B1, LOC106799833 (Q356*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 56835	NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln)	CYP11B1, LOC106799833 (R332Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552598	NM_000497.4(CYP11B1):c.992C>T (p.Ala331Val)	CYP11B1, LOC106799833 (A331V)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 1178	NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)	CYP11B1, LOC106799833 (T319M)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +2 more	GPathogenic/Likely pathogenic
Select item 3241260	NM_000497.4(CYP11B1):c.955-2A>G	CYP11B1, LOC106799833	Single nucleotide variant (splice acceptor variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 2681090	NM_000497.4(CYP11B1):c.954+1del	CYP11B1, LOC106799833	Deletion (splice donor variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 447228	NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GPathogenic/Likely pathogenic
Select item 1173	NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met)	CYP11B1, LOC106799833 (T318M)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GPathogenic
Select item 995869	NM_000497.4(CYP11B1):c.946G>A (p.Val316Met)	CYP11B1, LOC106799833 (V316M)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 56833	NM_000497.4(CYP11B1):c.917C>T (p.Ala306Val)	CYP11B1, LOC106799833 (A306V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1454795	NM_000497.4(CYP11B1):c.907del (p.Ala303fs)	CYP11B1, LOC106799833 (A303fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 56832	NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro)	CYP11B1, LOC106799833 (L299P)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 1460229	NM_000497.4(CYP11B1):c.853_854insTACT (p.Gln285fs)	CYP11B1, LOC106799833 (Q285fs)	Insertion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 35991	NM_000497.4(CYP11B1):c.799+5G>C	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	Deficiency of steroid 11-beta-monooxygenase +3 more	GConflicting classifications of pathogenicity
Select item 2674657	NM_000497.4(CYP11B1):c.799G>C (p.Gly267Arg)	CYP11B1, LOC106799833 (G267R)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1412083	NM_000497.4(CYP11B1):c.793C>T (p.Gln265Ter)	CYP11B1, LOC106799833 (Q265*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic
Select item 554358	NM_000497.4(CYP11B1):c.740G>A (p.Trp247Ter)	CYP11B1, LOC106799833 (W247*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic
Select item 2681083	NM_000497.4(CYP11B1):c.715_731del (p.Phe239fs)	CYP11B1, LOC106799833 (F239fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1481332	NM_000497.4(CYP11B1):c.596-2A>T	CYP11B1, LOC106799833	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552484	NM_000497.4(CYP11B1):c.595+1G>A	CYP11B1, LOC106799833	Single nucleotide variant (splice donor variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GConflicting classifications of pathogenicity
Select item 1384166	NM_000497.4(CYP11B1):c.449C>A (p.Ser150Ter)	CYP11B1, LOC106799833 (S150*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 632517	NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu)	CYP11B1, LOC106799833 (S150L)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GConflicting classifications of pathogenicity
Select item 56831	NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp)	CYP11B1, LOC106799833 (R143W)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 77208	NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln)	CYP11B1, LOC106799833 (R141Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1073771	NM_000497.4(CYP11B1):c.421C>T (p.Arg141Ter)	CYP11B1, LOC106799833 (R141*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase +2 more	GPathogenic
Select item 552695	NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys)	CYP11B1, LOC106799833 (R138C)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic/Likely pathogenic
Select item 2136710	NM_000497.4(CYP11B1):c.396-1G>A	CYP11B1, LOC106799833	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 2681091	NM_000497.4(CYP11B1):c.360del (p.Arg120fs)	CYP11B1 (R120fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
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 1186	NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)	CYP11B1 (P94L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 550599	NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile)	CYP11B1 (F79I)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GConflicting classifications of pathogenicity
Select item 3241262	NM_000497.4(CYP11B1):c.228del (p.Ile78fs)	CYP11B1 (I78fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 557913	NM_000497.4(CYP11B1):c.217C>T (p.Gln73Ter)	CYP11B1 (Q73*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 35986	NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu)	CYP11B1 (P42L)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +3 more	GLikely pathogenic
Select item 1179	NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)	CYP11B1 (P42S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 551903	NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter)	CYP11B1, LOC110673972 (Q19*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase +1 more	GPathogenic/Likely pathogenic

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Items: 61