"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 287651	NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)	CYP27A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 522282	NM_000784.4(CYP27A1):c.432T>C (p.Tyr144=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 498357	NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro)	CYP27A1 (R164P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 586208	NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val)	CYP27A1 (A169V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 586209	NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met)	CYP27A1 (T175M)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GBenign/Likely benign
Select item 741509	NM_000784.4(CYP27A1):c.594G>A (p.Ser198=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease +2 more	GLikely benign
Select item 497881	NM_000784.4(CYP27A1):c.624C>T (p.Leu208=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease +3 more	GConflicting classifications of pathogenicity
Select item 1100834	NM_000784.4(CYP27A1):c.654C>T (p.Cys218=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GLikely benign
Select item 1284558	NM_000784.4(CYP27A1):c.784C>T (p.Arg262Cys)	CYP27A1 (R262C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 334370	NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1299914	NM_000784.4(CYP27A1):c.968G>A (p.Arg323Gln)	CYP27A1 (R323Q)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GUncertain significance
Select item 4266	NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)	CYP27A1 (T339M)	Single nucleotide variant (missense variant)	CYP27A1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 785765	NM_000784.4(CYP27A1):c.1102G>T (p.Val368Leu)	CYP27A1 (V368L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 785766	NM_000784.4(CYP27A1):c.1104G>A (p.Val368=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 4255	NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	CYP27A1 (R395C)	Single nucleotide variant (missense variant)	CYP27A1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 287313	NM_000784.4(CYP27A1):c.1419C>T (p.Val473=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease +2 more	GConflicting classifications of pathogenicity
Select item 282791	NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)	CYP27A1 (A491S)	Single nucleotide variant (missense variant)	CYP27A1-related disorder +4 more	GBenign/Likely benign
Select item 199040	NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp)	CYP27A1 (A502D)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 858497	NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)	CYP27A1 (T505M)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GConflicting classifications of pathogenicity