"Counsyl"[submitter] AND "LOC106799833"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552192	NM_000497.4(CYP11B1):c.1486del (p.Leu496fs)	CYP11B1, LOC106799833 (L496fs +1 more)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GConflicting classifications of pathogenicity
Select item 362145	NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp)	CYP11B1, LOC106799833 (V484D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 558475	NM_000497.4(CYP11B1):c.1398+2T>C	CYP11B1, LOC106799833	Single nucleotide variant (splice donor variant +1 more)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 556405	NM_000497.4(CYP11B1):c.1361G>A (p.Arg454His)	CYP11B1, LOC106799833 (R454H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
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 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 551325	NM_000497.4(CYP11B1):c.1205del (p.Leu402fs)	LOC106799833, CYP11B1 (L402fs)	Deletion (frameshift variant +1 more)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 447222	NM_000497.4(CYP11B1):c.1181del (p.Asn394fs)	CYP11B1, LOC106799833 (N394fs)	Deletion (frameshift variant)	CYP11B1-related disorder +3 more	GPathogenic
Select item 552515	NM_000497.4(CYP11B1):c.1159dup (p.Ser387fs)	LOC106799833, CYP11B1 (S387fs)	Duplication (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 550514	NM_000497.4(CYP11B1):c.1157C>A (p.Ala386Glu)	CYP11B1, LOC106799833 (A386E)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase	GUncertain significance
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 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 554618	NM_000497.4(CYP11B1):c.1112A>G (p.Glu371Gly)	CYP11B1, LOC106799833 (E371G)	Single nucleotide variant (missense variant)	CYP11B1-related disorder +1 more	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 550643	NM_000497.4(CYP11B1):c.1021C>A (p.Arg341Ser)	CYP11B1, LOC106799833 (R341S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 551042	NM_000497.4(CYP11B1):c.955-1G>A	CYP11B1, LOC106799833	Single nucleotide variant (splice acceptor variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 550037	NM_000497.4(CYP11B1):c.955-15_955-1del	CYP11B1, LOC106799833	Deletion (splice acceptor variant)	Deficiency of steroid 11-beta-monooxygenase	GUncertain significance
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 556549	NM_000497.4(CYP11B1):c.953C>G (p.Thr318Arg)	CYP11B1, LOC106799833 (T318R)	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 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 447227	NM_000497.4(CYP11B1):c.841_842insACAGTACACCA (p.Ser281fs)	CYP11B1, LOC106799833 (S281fs)	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 557394	NM_000497.4(CYP11B1):c.799+1G>C	CYP11B1, LOC106799833	Single nucleotide variant (splice donor variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 555090	NM_000497.4(CYP11B1):c.780G>A (p.Trp260Ter)	CYP11B1, LOC106799833 (W260*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 558298	NM_000497.4(CYP11B1):c.779G>A (p.Trp260Ter)	LOC106799833, CYP11B1 (W260*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase	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 550380	NM_000497.4(CYP11B1):c.632_640del (p.Leu211_Gly213del)	CYP11B1, LOC106799833	Deletion (inframe_deletion)	Deficiency of steroid 11-beta-monooxygenase	GUncertain significance
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 550085	NM_000497.4(CYP11B1):c.517AAG[2] (p.Lys175del)	CYP11B1, LOC106799833 (K175del)	Microsatellite (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 557029	NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp)	CYP11B1, LOC106799833 (A165D)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase	GConflicting classifications of pathogenicity
Select item 556875	NM_000497.4(CYP11B1):c.473T>C (p.Leu158Pro)	CYP11B1, LOC106799833 (L158P)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase	GUncertain significance
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 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

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Items: 38