"Natera, Inc."[submitter] AND "CYP11B2"[gene] - ClinVar

Search results

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 834390	NM_000498.3(CYP11B2):c.1398+1G>A	CYP11B2, LOC106799834	Single nucleotide variant (splice donor variant)	Corticosterone 18-monooxygenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 741055	NM_000498.3(CYP11B2):c.1353C>T (p.Leu451=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 990143	NM_000498.3(CYP11B2):c.1341G>A (p.Met447Ile)	CYP11B2, LOC106799834 (M447I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 362192	NM_000498.3(CYP11B2):c.1303G>A (p.Gly435Ser)	CYP11B2, LOC106799834 (G435S)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +4 more	GBenign
Select item 787336	NM_000498.3(CYP11B2):c.1272T>C (p.Asn424=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 990144	NM_000498.3(CYP11B2):c.1265G>A (p.Arg422Gln)	CYP11B2, LOC106799834 (R422Q)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 990145	NM_000498.3(CYP11B2):c.1253C>T (p.Pro418Leu)	LOC106799834, CYP11B2 (P418L)	Single nucleotide variant (missense variant)	Corticosterone methyl oxidase type II deficiency	GUncertain significance
Select item 774669	NM_000498.3(CYP11B2):c.1240G>C (p.Ala414Pro)	CYP11B2, LOC106799834 (A414P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 990146	NM_000498.3(CYP11B2):c.1227G>A (p.Ser409=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 758870	NM_000498.3(CYP11B2):c.1227G>T (p.Ser409=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741665	NM_000498.3(CYP11B2):c.1215T>G (p.Val405=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741666	NM_000498.3(CYP11B2):c.1209A>G (p.Val403=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 362193	NM_000498.3(CYP11B2):c.1170G>A (p.Leu390=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone 18-monooxygenase deficiency +3 more	GBenign
Select item 242772	NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala)	CYP11B2, LOC106799834 (V386A)	Single nucleotide variant (missense variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GBenign
Select item 362194	NM_000498.3(CYP11B2):c.1144T>C (p.Leu382=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 990147	NM_000498.3(CYP11B2):c.1122-4C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 718478	NM_000498.3(CYP11B2):c.1122-10C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 362195	NM_000498.3(CYP11B2):c.1120C>A (p.Arg374=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone 18-monooxygenase deficiency +4 more	GBenign
Select item 990148	NM_000498.3(CYP11B2):c.1096C>T (p.Arg366Trp)	CYP11B2, LOC106799834 (R366W)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +1 more	GUncertain significance
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 762848	NM_000498.3(CYP11B2):c.1041C>T (p.Ala347=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990149	NM_000498.3(CYP11B2):c.1035G>C (p.Leu345=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 990150	NM_000498.3(CYP11B2):c.1030A>G (p.Ser344Gly)	CYP11B2, LOC106799834 (S344G)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +1 more	GUncertain significance
Select item 990151	NM_000498.3(CYP11B2):c.1022G>A (p.Arg341His)	CYP11B2, LOC106799834 (R341H)	Single nucleotide variant (missense variant)	Corticosterone methyl oxidase type II deficiency	GUncertain significance
Select item 362201	NM_000498.3(CYP11B2):c.1016T>C (p.Ile339Thr)	CYP11B2, LOC106799834 (I339T)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +3 more	GBenign
Select item 719345	NM_000498.3(CYP11B2):c.1015A>G (p.Ile339Val)	CYP11B2, LOC106799834 (I339V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 990152	NM_000498.3(CYP11B2):c.961T>A (p.Phe321Ile)	CYP11B2, LOC106799834 (F321I)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +1 more	GUncertain significance
Select item 990153	NM_000498.3(CYP11B2):c.955-10G>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 990154	NM_000498.3(CYP11B2):c.954+7C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone 18-monooxygenase deficiency +1 more	GUncertain significance
Select item 362206	NM_000498.3(CYP11B2):c.891G>A (p.Ala297=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GBenign
Select item 362207	NM_000498.3(CYP11B2):c.873G>A (p.Ala291=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone methyloxidase type 2 deficiency +4 more	GBenign
Select item 792801	NM_000498.3(CYP11B2):c.843C>T (p.Asn281=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 718479	NM_000498.3(CYP11B2):c.825C>T (p.Tyr275=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 718480	NM_000498.3(CYP11B2):c.801T>C (p.Gly267=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990155	NM_000498.3(CYP11B2):c.800-3C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 718481	NM_000498.3(CYP11B2):c.800-7T>C	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 388547	NM_000498.3(CYP11B2):c.798C>T (p.Tyr266=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 751289	NM_000498.3(CYP11B2):c.786C>T (p.Cys262=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 793072	NM_000498.3(CYP11B2):c.768C>T (p.His256=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 16880	NM_000498.3(CYP11B2):c.763G>T (p.Glu255Ter)	CYP11B2, LOC106799834 (E255*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 783026	NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr)	CYP11B2, LOC106799834 (I248T)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +3 more	GConflicting classifications of pathogenicity
Select item 990156	NM_000498.3(CYP11B2):c.737G>A (p.Arg246His)	CYP11B2, LOC106799834 (R246H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 794365	NM_000498.3(CYP11B2):c.702C>T (p.Thr234=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 787879	NM_000498.3(CYP11B2):c.679C>T (p.Leu227=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone 18-monooxygenase deficiency +2 more	GBenign/Likely benign
Select item 990157	NM_000498.3(CYP11B2):c.677C>T (p.Ala226Val)	LOC106799834, CYP11B2 (A226V)	Single nucleotide variant (missense variant)	Corticosterone methyl oxidase type II deficiency	GUncertain significance
Select item 990585	NM_000498.3(CYP11B2):c.635T>C (p.Val212Ala)	CYP11B2, LOC106799834 (V212A)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +1 more	GUncertain significance
Select item 362215	NM_000498.3(CYP11B2):c.606A>G (p.Leu202=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone 18-monooxygenase deficiency +3 more	GBenign/Likely benign
Select item 799998	NM_000498.3(CYP11B2):c.596-4G>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 242702	NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp)	CYP11B2, LOC106799834 (E198D)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 990586	NM_000498.3(CYP11B2):c.590T>C (p.Ile197Thr)	CYP11B2, LOC106799834 (I197T)	Single nucleotide variant (missense variant)	Corticosterone methyl oxidase type II deficiency	GUncertain significance
Select item 16881	NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile)	CYP11B2, LOC106799834 (T185I)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 242773	NM_000498.3(CYP11B2):c.541C>T (p.Arg181Trp)	CYP11B2, LOC106799834 (R181W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 990587	NM_000498.3(CYP11B2):c.537C>T (p.Asn179=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 362220	NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg)	CYP11B2, LOC106799834 (K173R)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +4 more	GBenign
Select item 362221	NM_000498.3(CYP11B2):c.504C>T (p.Phe168=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 990588	NM_000498.3(CYP11B2):c.493G>T (p.Ala165Ser)	CYP11B2, LOC106799834 (A165S)	Single nucleotide variant (missense variant)	Corticosterone methyl oxidase type II deficiency	GUncertain significance
Select item 711504	NM_000498.3(CYP11B2):c.435C>T (p.Asn145=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1073636	NM_000498.3(CYP11B2):c.421C>T (p.Arg141Ter)	CYP11B2, LOC106799834 (R141*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 727309	NM_000498.3(CYP11B2):c.414C>T (p.Arg138=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone 18-monooxygenase deficiency +2 more	GLikely benign
Select item 990589	NM_000498.3(CYP11B2):c.395+6C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone methyl oxidase type II deficiency	GUncertain significance
Select item 1065996	NM_000498.3(CYP11B2):c.395+1_395+2del	CYP11B2, LOC106799834	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 971333	NM_000498.3(CYP11B2):c.395+1G>A	CYP11B2, LOC106799834	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 990590	NM_000498.3(CYP11B2):c.384C>T (p.Gly128=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone methyl oxidase type II deficiency	GUncertain significance
Select item 766470	NM_000498.3(CYP11B2):c.342G>A (p.Glu114=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1168597	NM_000498.3(CYP11B2):c.288T>C (p.Asp96=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719973	NM_000498.3(CYP11B2):c.282G>A (p.Pro94=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 990591	NM_000498.3(CYP11B2):c.260G>A (p.Arg87His)	CYP11B2, LOC106799834 (R87H)	Single nucleotide variant (missense variant)	Corticosterone methyl oxidase type II deficiency	GUncertain significance
Select item 835110	NM_000498.3(CYP11B2):c.240-1G>A	CYP11B2, LOC106799834	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 708361	NM_000498.3(CYP11B2):c.240-9del	CYP11B2, LOC106799834	Deletion (intron variant)	not provided	GBenign
Select item 740763	NM_000498.3(CYP11B2):c.182A>T (p.Tyr61Phe)	CYP11B2, LOC106799834 (Y61F)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 990592	NM_000498.3(CYP11B2):c.159G>A (p.Leu53=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 797574	NM_000498.3(CYP11B2):c.142A>C (p.Arg48=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1164392	NM_000498.3(CYP11B2):c.135A>G (p.Pro45=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786818	NM_000498.3(CYP11B2):c.102G>A (p.Thr34=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990593	NM_000498.3(CYP11B2):c.101C>T (p.Thr34Met)	CYP11B2, LOC106799834 (T34M)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +1 more	GUncertain significance
Select item 362229	NM_000498.3(CYP11B2):c.89G>A (p.Arg30Gln)	LOC106799834, CYP11B2 (R30Q)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +3 more	GBenign
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 990594	NM_000498.3(CYP11B2):c.84C>T (p.Ala28=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714514	NM_000498.3(CYP11B2):c.78T>G (p.Thr26=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone 18-monooxygenase deficiency +3 more	GLikely benign
Select item 990595	NM_000498.3(CYP11B2):c.59G>A (p.Arg20Lys)	CYP11B2, LOC106799834 (R20K)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 794379	NM_000498.3(CYP11B2):c.39G>A (p.Ala13=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990596	NM_000498.3(CYP11B2):c.38C>T (p.Ala13Val)	LOC106799834, CYP11B2 (A13V)	Single nucleotide variant (missense variant)	Corticosterone methyl oxidase type II deficiency	GUncertain significance
Select item 990597	NM_000498.3(CYP11B2):c.30C>T (p.Cys10=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740402	NM_000498.3(CYP11B2):c.9C>A (p.Leu3=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone methyloxidase type 2 deficiency +4 more	GConflicting classifications of pathogenicity

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Items: 84