"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC106799833"[gen - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1099048	NM_000497.4(CYP11B1):c.1440C>T (p.Asp480=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1181	NM_000497.4(CYP11B1):c.1398+4A>G	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GLikely pathogenic
Select item 1120327	NM_000497.4(CYP11B1):c.1389G>C (p.Leu463=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
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 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 555197	NM_000497.4(CYP11B1):c.1280G>A (p.Arg427His)	CYP11B1, LOC106799833 (R427H)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 447223	NM_000497.4(CYP11B1):c.1266C>T (p.Arg422=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant +1 more)	Glucocorticoid-remediable aldosteronism +2 more	GBenign/Likely benign
Select item 1085751	NM_000497.4(CYP11B1):c.1227T>G (p.Ser409=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant +1 more)	Glucocorticoid-remediable aldosteronism +2 more	GLikely 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 447222	NM_000497.4(CYP11B1):c.1181del (p.Asn394fs)	CYP11B1, LOC106799833 (N394fs)	Deletion (frameshift variant)	CYP11B1-related disorder +3 more	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 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 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 56830	NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter)	CYP11B1, LOC106799833 (Q356*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 736025	NM_000497.4(CYP11B1):c.1038C>T (p.Ala346=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GLikely benign
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 35979	NM_000497.4(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile)	CYP11B1, LOC106799833 (A339I)	Indel (missense variant)	Glucocorticoid-remediable aldosteronism +2 more	GUncertain significance
Select item 35978	NM_000497.4(CYP11B1):c.1015G>A (p.Ala339Thr)	LOC106799833, CYP11B1 (A339T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 704752	NM_000497.4(CYP11B1):c.988C>T (p.Leu330=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GBenign/Likely benign
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 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 1142621	NM_000497.4(CYP11B1):c.948G>C (p.Val316=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +2 more	GLikely benign
Select item 704651	NM_000497.4(CYP11B1):c.945C>T (p.Ser315=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GBenign/Likely benign
Select item 1256566	NM_000497.4(CYP11B1):c.899C>G (p.Ser300Trp)	CYP11B1, LOC106799833 (S300W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1179123	NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val)	CYP11B1, LOC106799833 (A297V)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +1 more	GLikely pathogenic
Select item 424028	NM_000497.4(CYP11B1):c.835G>A (p.Ala279Thr)	CYP11B1, LOC106799833 (A279T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1592181	NM_000497.4(CYP11B1):c.799+17G>A	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GBenign/Likely benign
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 1072465	NM_000497.4(CYP11B1):c.726del (p.Ser243fs)	CYP11B1, LOC106799833 (S243fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 706303	NM_000497.4(CYP11B1):c.645C>T (p.Ser215=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1594674	NM_000497.4(CYP11B1):c.627G>T (p.Leu209=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +2 more	GLikely benign
Select item 1081537	NM_000497.4(CYP11B1):c.596-8C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	Glucocorticoid-remediable aldosteronism +2 more	GLikely benign
Select item 702316	NM_000497.4(CYP11B1):c.561C>T (p.Asp187=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 585765	NM_000497.4(CYP11B1):c.538G>A (p.Ala180Thr)	CYP11B1, LOC106799833 (A180T)	Single nucleotide variant (missense variant)	Glucocorticoid-remediable aldosteronism +2 more	GUncertain significance
Select item 1095297	NM_000497.4(CYP11B1):c.537C>T (p.Asn179=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 705014	NM_000497.4(CYP11B1):c.459T>C (p.Ala153=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GBenign/Likely benign
Select item 1338281	NM_000497.4(CYP11B1):c.457G>A (p.Ala153Thr)	CYP11B1, LOC106799833 (A153T)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GUncertain significance
Select item 705015	NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys)	CYP11B1, LOC106799833 (N152K)	Single nucleotide variant (missense variant)	Deficiency of steroid 11-beta-monooxygenase +3 more	GLikely benign
Select item 1571198	NM_000497.4(CYP11B1):c.396-9C>T	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GLikely benign
Select item 771601	NM_000497.4(CYP11B1):c.395+10G>A	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign

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Items: 45