C0268293[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 908353	NM_000498.3(CYP11B2):c.*1340T>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 908354	NM_000498.3(CYP11B2):c.*1277G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362172	NM_000498.3(CYP11B2):c.1246_1248del	CYP11B2, LOC106799834	Deletion (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GLikely benign
Select item 362173	NM_000498.3(CYP11B2):c.*1178T>C	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GBenign
Select item 362174	NM_000498.3(CYP11B2):c.*1047C>T	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911201	NM_000498.3(CYP11B2):c.*993A>G	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362175	NM_000498.3(CYP11B2):c.*972C>G	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911396	NM_000498.3(CYP11B2):c.*879G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911397	NM_000498.3(CYP11B2):c.*876C>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362176	NM_000498.3(CYP11B2):c.*789G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 908421	NM_000498.3(CYP11B2):c.*759A>T	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362177	NM_000498.3(CYP11B2):c.*746G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362178	NM_000498.3(CYP11B2):c.*744G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GBenign
Select item 362179	NM_000498.3(CYP11B2):c.*743C>T	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362180	NM_000498.3(CYP11B2):c.*735G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 911265	NM_000498.3(CYP11B2):c.*613C>T	LOC106799834, CYP11B2	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 911266	NM_000498.3(CYP11B2):c.*591T>G	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362181	NM_000498.3(CYP11B2):c.*579T>C	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 362182	NM_000498.3(CYP11B2):c.*566C>T	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 362183	NM_000498.3(CYP11B2):c.*537C>T	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GBenign
Select item 362184	NM_000498.3(CYP11B2):c.*532G>T	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GBenign
Select item 362185	NM_000498.3(CYP11B2):c.*504C>T	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362186	NM_000498.3(CYP11B2):c.*431A>C	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362187	NM_000498.3(CYP11B2):c.*299G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 909344	NM_000498.3(CYP11B2):c.*298C>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone methyloxidase type 2 deficiency +2 more	GUncertain significance
Select item 362188	NM_000498.3(CYP11B2):c.292_294dup	CYP11B2, LOC106799834	Duplication (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GBenign
Select item 362189	NM_000498.3(CYP11B2):c.*239T>C	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GBenign
Select item 910310	NM_000498.3(CYP11B2):c.*205G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362190	NM_000498.3(CYP11B2):c.*204C>G	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362191	NM_000498.3(CYP11B2):c.*81G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GBenign
Select item 911520	NM_000498.3(CYP11B2):c.*25A>C	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 908560	NM_000498.3(CYP11B2):c.1454A>G (p.Tyr485Cys)	CYP11B2, LOC106799834 (Y485C)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 908561	NM_000498.3(CYP11B2):c.1441A>T (p.Ile481Leu)	CYP11B2, LOC106799834 (I481L)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 908562	NM_000498.3(CYP11B2):c.1398+10C>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone 18-monooxygenase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 741055	NM_000498.3(CYP11B2):c.1353C>T (p.Leu451=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GBenign/Likely benign
Select item 909422	NM_000498.3(CYP11B2):c.1343G>A (p.Arg448His)	CYP11B2, LOC106799834 (R448H)	Single nucleotide variant (missense variant)	Corticosterone methyloxidase type 2 deficiency +3 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)	not provided +4 more	GBenign
Select item 910372	NM_000498.3(CYP11B2):c.1216T>G (p.Phe406Val)	CYP11B2, LOC106799834 (F406V)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 910373	NM_000498.3(CYP11B2):c.1201-9C>G	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
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)	not provided +3 more	GBenign
Select item 362194	NM_000498.3(CYP11B2):c.1144T>C (p.Leu382=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone 18-monooxygenase deficiency +3 more	GBenign
Select item 908631	NM_000498.3(CYP11B2):c.1136G>T (p.Gly379Val)	CYP11B2, LOC106799834 (G379V)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362195	NM_000498.3(CYP11B2):c.1120C>A (p.Arg374=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 362196	NM_000498.3(CYP11B2):c.1101G>A (p.Ala367=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 362197	NM_000498.3(CYP11B2):c.1098G>T (p.Arg366=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +3 more	GLikely benign
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 362198	NM_000498.3(CYP11B2):c.1080C>T (p.Thr360=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 362199	NM_000498.3(CYP11B2):c.1039G>A (p.Ala347Thr)	CYP11B2, LOC106799834 (A347T)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +3 more	GConflicting classifications of pathogenicity
Select item 362200	NM_000498.3(CYP11B2):c.1021C>T (p.Arg341Cys)	CYP11B2, LOC106799834 (R341C)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 362202	NM_000498.3(CYP11B2):c.1016T>A (p.Ile339Asn)	CYP11B2, LOC106799834 (I339N)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
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 362203	NM_000498.3(CYP11B2):c.1006G>A (p.Val336Met)	CYP11B2, LOC106799834 (V336M)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 908695	NM_000498.3(CYP11B2):c.979C>T (p.Leu327Phe)	CYP11B2, LOC106799834 (L327F)	Single nucleotide variant (missense variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 362204	NM_000498.3(CYP11B2):c.959C>T (p.Ala320Val)	CYP11B2, LOC106799834 (A320V)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +3 more	GLikely benign
Select item 362205	NM_000498.3(CYP11B2):c.945C>T (p.Ser315=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone 18-monooxygenase deficiency +3 more	GBenign/Likely benign
Select item 909551	NM_000498.3(CYP11B2):c.924T>C (p.Ser308=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 362206	NM_000498.3(CYP11B2):c.891G>A (p.Ala297=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone 18-monooxygenase deficiency +3 more	GBenign
Select item 362207	NM_000498.3(CYP11B2):c.873G>A (p.Ala291=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone 18-monooxygenase deficiency +4 more	GBenign
Select item 362208	NM_000498.3(CYP11B2):c.867C>T (p.Ile289=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +3 more	GBenign/Likely benign
Select item 911712	NM_000498.3(CYP11B2):c.845G>A (p.Arg282His)	CYP11B2, LOC106799834 (R282H)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362209	NM_000498.3(CYP11B2):c.844C>T (p.Arg282Cys)	CYP11B2, LOC106799834 (R282C)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +3 more	GConflicting classifications of pathogenicity
Select item 362210	NM_000498.3(CYP11B2):c.842A>G (p.Asn281Ser)	CYP11B2, LOC106799834 (N281S)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +3 more	GBenign/Likely benign
Select item 362211	NM_000498.3(CYP11B2):c.800-14T>C	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Glucocorticoid-remediable aldosteronism +3 more	GConflicting classifications of pathogenicity
Select item 909610	NM_000498.3(CYP11B2):c.796T>G (p.Tyr266Asp)	CYP11B2, LOC106799834 (Y266D)	Single nucleotide variant (missense variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GUncertain significance
Select item 362212	NM_000498.3(CYP11B2):c.752A>G (p.Lys251Arg)	CYP11B2, LOC106799834 (K251R)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +3 more	GConflicting classifications of pathogenicity
Select item 783026	NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr)	LOC106799834, CYP11B2 (I248T)	Single nucleotide variant (missense variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 362213	NM_000498.3(CYP11B2):c.674A>G (p.His225Arg)	CYP11B2, LOC106799834 (H225R)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +2 more	GConflicting classifications of pathogenicity
Select item 362214	NM_000498.3(CYP11B2):c.640C>G (p.His214Asp)	CYP11B2, LOC106799834 (H214D)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +3 more	GBenign/Likely benign
Select item 362215	NM_000498.3(CYP11B2):c.606A>G (p.Leu202=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +3 more	GBenign/Likely benign
Select item 362216	NM_000498.3(CYP11B2):c.595+15G>T	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Glucocorticoid-remediable aldosteronism +2 more	GUncertain significance
Select item 362217	NM_000498.3(CYP11B2):c.595+14G>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Glucocorticoid-remediable aldosteronism +3 more	GBenign/Likely benign
Select item 362218	NM_000498.3(CYP11B2):c.591A>G (p.Ile197Met)	CYP11B2, LOC106799834 (I197M)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +2 more	GUncertain significance
Select item 362219	NM_000498.3(CYP11B2):c.529C>T (p.Leu177=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +3 more	GConflicting classifications of pathogenicity
Select item 362220	NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg)	CYP11B2, LOC106799834 (K173R)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +4 more	GBenign
Select item 362221	NM_000498.3(CYP11B2):c.504C>T (p.Phe168=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +4 more	GBenign
Select item 362222	NM_000498.3(CYP11B2):c.477G>A (p.Pro159=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +3 more	GConflicting classifications of pathogenicity
Select item 362223	NM_000498.3(CYP11B2):c.476C>T (p.Pro159Leu)	CYP11B2, LOC106799834 (P159L)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +2 more	GLikely benign
Select item 910598	NM_000498.3(CYP11B2):c.449C>T (p.Ser150Leu)	CYP11B2, LOC106799834 (S150L)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 910599	NM_000498.3(CYP11B2):c.427C>T (p.Arg143Trp)	CYP11B2, LOC106799834 (R143W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 362224	NM_000498.3(CYP11B2):c.424T>C (p.Leu142=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +3 more	GConflicting classifications of pathogenicity
Select item 362225	NM_000498.3(CYP11B2):c.395+10G>A	CYP11B2, LOC106799834	Single nucleotide variant (intron variant)	Glucocorticoid-remediable aldosteronism +3 more	GConflicting classifications of pathogenicity
Select item 362226	NM_000498.3(CYP11B2):c.352G>A (p.Ala118Thr)	CYP11B2, LOC106799834 (A118T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 766470	NM_000498.3(CYP11B2):c.342G>A (p.Glu114=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 908874	NM_000498.3(CYP11B2):c.280C>T (p.Pro94Ser)	CYP11B2, LOC106799834 (P94S)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +2 more	GUncertain significance
Select item 362227	NM_000498.3(CYP11B2):c.256C>G (p.Pro86Ala)	CYP11B2, LOC106799834 (P86A)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +2 more	GConflicting classifications of pathogenicity
Select item 909735	NM_000498.3(CYP11B2):c.157C>T (p.Leu53=)	LOC106799834, CYP11B2	Single nucleotide variant (synonymous variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 362228	NM_000498.3(CYP11B2):c.111G>A (p.Pro37=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +3 more	GBenign/Likely benign
Select item 362229	NM_000498.3(CYP11B2):c.89G>A (p.Arg30Gln)	CYP11B2, LOC106799834 (R30Q)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +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 740402	NM_000498.3(CYP11B2):c.9C>A (p.Leu3=)	LOC106799834, CYP11B2	Single nucleotide variant (synonymous variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 369596	NM_000498.3(CYP11B2):c.-14G>C	CYP11B2, LOC106799834 +1 more	Single nucleotide variant	Corticosterone methyloxidase type 2 deficiency +2 more	GLikely benign

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Items: 92