"GeneReviews"[submitter] AND "CYP27A1"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 65882	NM_000784.4(CYP27A1):c.5dup (p.Ala3fs)	CYP27A1 (A3fs)	Duplication (frameshift variant)	Cholestanol storage disease +1 more	GPathogenic
Select item 65894	NM_000784.4(CYP27A1):c.73del (p.Ala25fs)	CYP27A1 (A25fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 65856	NM_000784.4(CYP27A1):c.305del (p.Pro102fs)	CYP27A1 (P102fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 65861	NM_000784.4(CYP27A1):c.355del (p.Arg119fs)	CYP27A1 (R119fs)	Deletion (frameshift variant)	Cholestanol storage disease	Gnot provided
Select item 65863	NM_000784.4(CYP27A1):c.366= (p.Gly122=)	CYP27A1	Single nucleotide variant (no sequence alteration)	Cholestanol storage disease	GBenign
Select item 65864	NM_000784.4(CYP27A1):c.373_379del (p.Pro125fs)	CYP27A1 (P125fs)	Deletion (frameshift variant)	Cholestanol storage disease	GLikely pathogenic
Select item 65865	NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)	CYP27A1 (R127W)	Single nucleotide variant (missense variant)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 65866	NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)	CYP27A1 (R127Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 65999	NM_000784.4(CYP27A1):c.399G>A (p.Trp133Ter)	CYP27A1 (W133*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
Select item 65867	NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)	CYP27A1 (R137W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 65929	NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)	CYP27A1 (R137Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 65868	NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg)	CYP27A1 (G145R)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GPathogenic/Likely pathogenic
Select item 4264	NM_000784.4(CYP27A1):c.434G>A (p.Gly145Glu)	CYP27A1 (G145E)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GPathogenic
Select item 65869	NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 65870	NM_000784.4(CYP27A1):c.438G>A (p.Pro146=)	CYP27A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 65871	NM_000784.4(CYP27A1):c.446+1G>A	CYP27A1	Single nucleotide variant (splice donor variant)	Cholestanol storage disease +1 more	GPathogenic
Select item 65873	NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter)	CYP27A1 (Q159*)	Single nucleotide variant (nonsense)	Cholestanol storage disease +1 more	GPathogenic
Select item 334367	NM_000784.4(CYP27A1):c.526del (p.Asp176fs)	CYP27A1 (D176fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 65878	NM_000784.4(CYP27A1):c.583G>T (p.Glu195Ter)	CYP27A1 (E195*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
Select item 65885	NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)	CYP27A1 (A216P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 65886	NM_000784.4(CYP27A1):c.647-1G>T	CYP27A1	Single nucleotide variant (splice acceptor variant)	Cholestanol storage disease	GPathogenic
Select item 65891	NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter)	CYP27A1 (R231*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
Select item 65895	NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter)	CYP27A1 (Q249*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 65896	NM_000784.4(CYP27A1):c.752C>A (p.Ser251Ter)	CYP27A1 (S251*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
Select item 65898	NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)	CYP27A1 (K259R)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GConflicting classifications of pathogenicity
Select item 65899	NM_000784.4(CYP27A1):c.779G>A (p.Trp260Ter)	CYP27A1 (W260*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
Select item 65902	NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)	CYP27A1 (R270*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 65903	NM_000784.4(CYP27A1):c.819del (p.Asp273fs)	CYP27A1 (D273fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 4257	NM_000784.4(CYP27A1):c.844+1G>A	CYP27A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
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 65908	NM_000784.4(CYP27A1):c.852G>A (p.Lys284=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GBenign
Select item 65910	NM_000784.4(CYP27A1):c.863del (p.Glu288fs)	CYP27A1 (E288fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic
Select item 4265	NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)	CYP27A1 (L315fs)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 65825	NM_000784.4(CYP27A1):c.1017G>C (p.Thr339=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cholestanol storage disease	GPathogenic
Select item 65827	NM_000784.4(CYP27A1):c.1061A>G (p.Asp354Gly)	CYP27A1 (D354G)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GPathogenic
Select item 65831	NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)	CYP27A1 (P384L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 4261	NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)	CYP27A1 (R395S)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 4255	NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	CYP27A1 (R395C)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 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)	not provided +2 more	GPathogenic
Select item 65835	NM_000784.4(CYP27A1):c.1185-1G>T	CYP27A1	Single nucleotide variant (splice acceptor variant)	Cholestanol storage disease	GPathogenic
Select item 65836	NM_000784.4(CYP27A1):c.1202C>G (p.Pro401Arg)	CYP27A1 (P401R)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GPathogenic
Select item 65837	NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)	CYP27A1 (N403K)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GConflicting classifications of pathogenicity
Select item 65838	NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)	CYP27A1 (R405W)	Single nucleotide variant (missense variant)	Cholestanol storage disease +2 more	GPathogenic/Likely pathogenic
Select item 65839	NM_000784.4(CYP27A1):c.1222G>T (p.Glu408Ter)	CYP27A1 (E408*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	GPathogenic
Select item 65840	NM_000784.4(CYP27A1):c.1238T>A (p.Val413Asp)	CYP27A1 (V413D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 4262	NM_000784.4(CYP27A1):c.1263+1G>A	CYP27A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 65841	NM_000784.4(CYP27A1):c.1263+5G>T	CYP27A1	Single nucleotide variant (intron variant)	Cholestanol storage disease	GPathogenic
Select item 65844	NM_000784.4(CYP27A1):c.1264-1G>A	CYP27A1	Single nucleotide variant (splice acceptor variant)	Cholestanol storage disease	GPathogenic
Select item 65850	NM_000784.4(CYP27A1):c.1402C>T (p.Pro468Ser)	CYP27A1 (P468S)	Single nucleotide variant (missense variant)	Cholestanol storage disease	GPathogenic
Select item 65851	NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)	CYP27A1 (G472A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4259	NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)	CYP27A1 (R474W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4258	NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)	CYP27A1 (R474Q)	Single nucleotide variant (missense variant)	CYP27A1-related disorder +2 more	GPathogenic
Select item 4267	NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)	CYP27A1 (R479G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4254	NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)	CYP27A1 (R479C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

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Items: 55