"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CYP11B1"[g - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2658888	NM_000497.4(CYP11B1):c.1399-23T>G	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 35981	NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +3 more	GBenign/Likely benign
Select item 2658889	NM_000497.4(CYP11B1):c.1039G>A (p.Ala347Thr)	CYP11B1, LOC106799833 (A347T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1121366	NM_000497.4(CYP11B1):c.595+8C>A	CYP11B1, LOC106799833	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 912290	NM_000497.4(CYP11B1):c.450G>A (p.Ser150=)	CYP11B1, LOC106799833	Single nucleotide variant (synonymous variant)	Deficiency of steroid 11-beta-monooxygenase +2 more	GConflicting classifications of pathogenicity
Select item 35987	NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=)	CYP11B1	Single nucleotide variant (synonymous variant)	Glucocorticoid-remediable aldosteronism +3 more	GConflicting classifications of pathogenicity
Select item 2658890	NM_000497.4(CYP11B1):c.239+167C>G	CYP11B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 425450	NM_000497.4(CYP11B1):c.77C>T (p.Thr26Met)	CYP11B1, LOC110673972 (T26M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	OPLAH, PARP10 +173 more	Copy number gain	not provided	GPathogenic