"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CYP27A1"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 598667	NM_000784.4(CYP27A1):c.110C>T (p.Ser37Leu)	CYP27A1 (S37L)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GUncertain significance
Select item 287315	NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met)	CYP27A1 (L81M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 65865	NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)	CYP27A1 (R127W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 498357	NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro)	CYP27A1 (R164P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 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 334367	NM_000784.4(CYP27A1):c.526del (p.Asp176fs)	CYP27A1 (D176fs)	Deletion (frameshift variant)	Cholestanol storage disease	GPathogenic/Likely pathogenic
Select item 65885	NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)	CYP27A1 (A216P)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GPathogenic/Likely pathogenic
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 4256	NM_000784.4(CYP27A1):c.845-1G>A	CYP27A1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 65907	NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter)	CYP27A1 (K284*)	Single nucleotide variant (nonsense)	Cholestanol storage disease +1 more	GPathogenic
Select item 65618	NM_000784.4(CYP27A1):c.888A>G (p.Gln296=)	CYP27A1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
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)	Cholestanol storage disease +1 more	GPathogenic/Likely pathogenic
Select item 284271	NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=)	CYP27A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 554665	NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)	CYP27A1 (Q358*)	Single nucleotide variant (nonsense)	Cholestanol storage disease	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 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)	not provided +1 more	GPathogenic
Select item 4260	NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)	CYP27A1 (R405Q)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GPathogenic/Likely pathogenic
Select item 290896	NM_000784.4(CYP27A1):c.1263+10del	CYP27A1	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 597084	NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp)	CYP27A1 (R433W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 183278	NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)	CYP27A1 (R448C)	Single nucleotide variant (missense variant)	Cholestanol storage disease +3 more	GConflicting classifications of pathogenicity
Select item 4258	NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)	CYP27A1 (R474Q)	Single nucleotide variant (missense variant)	Cholestanol storage disease +2 more	GPathogenic
Select item 1445841	NM_000784.4(CYP27A1):c.1514C>A (p.Thr505Lys)	CYP27A1 (T505K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance

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Items: 25