"Myriad Genetics, Inc."[submitter] AND "CYP11B1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555197	NM_000497.4(CYP11B1):c.1280G>A (p.Arg427His)	CYP11B1, LOC106799833 (R427H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1726111	NM_000497.4(CYP11B1):c.947dup (p.Asp317fs)	CYP11B1, LOC106799833 (D317fs)	Duplication (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1725957	NM_000497.4(CYP11B1):c.937del (p.Ala313fs)	CYP11B1, LOC106799833 (A313fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 984080	NM_000497.4(CYP11B1):c.850C>T (p.Gln284Ter)	CYP11B1, LOC106799833 (Q284*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 984081	NM_000497.4(CYP11B1):c.825T>G (p.Tyr275Ter)	CYP11B1, LOC106799833 (Y275*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1724743	NM_000497.4(CYP11B1):c.814C>T (p.Gln272Ter)	CYP11B1, LOC106799833 (Q272*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1724295	NM_000497.4(CYP11B1):c.811_812insAGAGGGAT (p.Ile271fs)	CYP11B1, LOC106799833 (I271fs)	Insertion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1725479	NM_000497.4(CYP11B1):c.793_794del (p.Gln265fs)	CYP11B1, LOC106799833 (Q265fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1725738	NM_000497.4(CYP11B1):c.751_752insC (p.Lys251fs)	CYP11B1, LOC106799833 (K251fs)	Insertion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1723935	NM_000497.4(CYP11B1):c.712dup (p.Met238fs)	CYP11B1, LOC106799833 (M238fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1725783	NM_000497.4(CYP11B1):c.693_694delinsT (p.Lys232fs)	CYP11B1, LOC106799833 (K232fs)	Indel (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1725037	NM_000497.4(CYP11B1):c.694A>T (p.Lys232Ter)	CYP11B1, LOC106799833 (K232*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1726232	NM_000497.4(CYP11B1):c.663_664del (p.Asn222fs)	CYP11B1, LOC106799833 (N222fs)	Deletion (frameshift variant)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 984082	NM_000497.4(CYP11B1):c.425T>A (p.Leu142Ter)	CYP11B1, LOC106799833 (L142*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic
Select item 1725926	NM_000497.4(CYP11B1):c.410G>A (p.Trp137Ter)	CYP11B1, LOC106799833 (W137*)	Single nucleotide variant (nonsense)	Deficiency of steroid 11-beta-monooxygenase	GLikely pathogenic