C0238052[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 984083	NM_000784.4(CYP27A1):c.264C>A (p.Tyr88Ter)	CYP27A1 (Y88*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GLikely pathogenic
Select item 984198	NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter)	CYP27A1 (W96*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 984199	NM_000784.4(CYP27A1):c.307C>T (p.Gln103Ter)	CYP27A1 (Q103*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GLikely pathogenic
Select item 984200	NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter)	CYP27A1 (Q120*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 1724420	NM_000784.4(CYP27A1):c.395del (p.Leu132fs)	CYP27A1 (L132fs)	Deletion (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 1725777	NM_000784.4(CYP27A1):c.426_430del (p.Thr143fs)	CYP27A1 (T143fs)	Microsatellite (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 1725507	NM_000784.4(CYP27A1):c.494T>A (p.Leu165Ter)	CYP27A1 (L165*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GLikely pathogenic
Select item 984201	NM_000784.4(CYP27A1):c.608C>A (p.Ser203Ter)	CYP27A1 (S203*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GLikely pathogenic
Select item 984202	NM_000784.4(CYP27A1):c.657C>A (p.Tyr219Ter)	CYP27A1 (Y219*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GLikely pathogenic
Select item 1725257	NM_000784.4(CYP27A1):c.685_688del (p.Leu229fs)	CYP27A1 (L229fs)	Microsatellite (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 1726530	NM_000784.4(CYP27A1):c.703G>T (p.Glu235Ter)	CYP27A1 (E235*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GLikely pathogenic
Select item 1726947	NM_000784.4(CYP27A1):c.724A>T (p.Arg242Ter)	CYP27A1 (R242*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GLikely pathogenic
Select item 984203	NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter)	CYP27A1 (W268*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 4256	NM_000784.4(CYP27A1):c.845-1G>A	CYP27A1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 984204	NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter)	CYP27A1 (Q319*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 1724790	NM_000784.4(CYP27A1):c.1061del (p.Asp354fs)	CYP27A1 (D354fs)	Deletion (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 1723984	NM_000784.4(CYP27A1):c.1126C>T (p.Gln376Ter)	CYP27A1 (Q376*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GLikely pathogenic
Select item 4255	NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	CYP27A1 (R395C)	Single nucleotide variant (missense variant)	CYP27A1-related condition +2 more	GPathogenic/Likely pathogenic
Select item 65834	NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)	CYP27A1 (R395H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 65833	NM_000784.4(CYP27A1):c.1184+1G>A	CYP27A1	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 4262	NM_000784.4(CYP27A1):c.1263+1G>A	CYP27A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 21