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Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP27A1
(A3fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
CYP27A1
(A25fs)
Deletion
(frameshift variant)
Cholestanol storage disease
GPathogenic
CYP27A1
(P102fs)
Deletion
(frameshift variant)
Cholestanol storage disease
GPathogenic
CYP27A1
(R119fs)
Deletion
(frameshift variant)
Cholestanol storage disease
Gnot provided
CYP27A1
Single nucleotide variant
(no sequence alteration)
Cholestanol storage disease
GBenign
CYP27A1
(P125fs)
Deletion
(frameshift variant)
Cholestanol storage disease
GPathogenic
CYP27A1
(R127W)
Single nucleotide variant
(missense variant)
CYP27A1-related condition
+3 more
GPathogenic/Likely pathogenic
CYP27A1
(R127Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CYP27A1
(W133*)
Single nucleotide variant
(nonsense)
Cholestanol storage disease
GPathogenic
CYP27A1
(R137W)
Single nucleotide variant
(missense variant)
CYP27A1-related condition
+2 more
GConflicting classifications of pathogenicity
CYP27A1
(R137Q)
Single nucleotide variant
(missense variant)
CYP27A1-related condition
+2 more
GConflicting classifications of pathogenicity
CYP27A1
(G145R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
CYP27A1
(G145E)
Single nucleotide variant
(missense variant)
Cholestanol storage disease
GPathogenic
CYP27A1
Single nucleotide variant
(synonymous variant)
CYP27A1-related condition
+1 more
GConflicting classifications of pathogenicity
CYP27A1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign
CYP27A1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
CYP27A1
(Q159*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
CYP27A1
(D176fs)
Deletion
(frameshift variant)
CYP27A1-related condition
+1 more
GPathogenic/Likely pathogenic
CYP27A1
(E195*)
Single nucleotide variant
(nonsense)
Cholestanol storage disease
GPathogenic
CYP27A1
(A216P)
Single nucleotide variant
(missense variant)
CYP27A1-related condition
+2 more
GPathogenic/Likely pathogenic
CYP27A1
Single nucleotide variant
(splice acceptor variant)
Cholestanol storage disease
GPathogenic
CYP27A1
(R231*)
Single nucleotide variant
(nonsense)
Cholestanol storage disease
GPathogenic
CYP27A1
(Q249*)
Single nucleotide variant
(nonsense)
Cholestanol storage disease
GPathogenic/Likely pathogenic
CYP27A1
(S251*)
Single nucleotide variant
(nonsense)
Cholestanol storage disease
GPathogenic
CYP27A1
(K259R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP27A1
(W260*)
Single nucleotide variant
(nonsense)
Cholestanol storage disease
GPathogenic
CYP27A1
(R270*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CYP27A1
(D273fs)
Deletion
(frameshift variant)
Cholestanol storage disease
GPathogenic
CYP27A1
Single nucleotide variant
(splice donor variant)
Cholestanol storage disease
+1 more
GPathogenic
CYP27A1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
CYP27A1
Single nucleotide variant
(synonymous variant)
Cholestanol storage disease
GBenign
CYP27A1
(E288fs)
Deletion
(frameshift variant)
Cholestanol storage disease
GPathogenic
CYP27A1
(L315fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CYP27A1
Single nucleotide variant
(synonymous variant)
Cholestanol storage disease
GPathogenic
CYP27A1
(D354G)
Single nucleotide variant
(missense variant)
Cholestanol storage disease
GPathogenic
CYP27A1
(P384L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CYP27A1
(R395S)
Single nucleotide variant
(missense variant)
Cholestanol storage disease
GConflicting classifications of pathogenicity
CYP27A1
(R395C)
Single nucleotide variant
(missense variant)
CYP27A1-related condition
+2 more
GPathogenic/Likely pathogenic
CYP27A1
(R395H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CYP27A1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
CYP27A1
Single nucleotide variant
(splice acceptor variant)
Cholestanol storage disease
GPathogenic
CYP27A1
(P401R)
Single nucleotide variant
(missense variant)
Cholestanol storage disease
GPathogenic
CYP27A1
(N403K)
Single nucleotide variant
(missense variant)
Cholestanol storage disease
GConflicting classifications of pathogenicity
CYP27A1
(R405W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
CYP27A1
(E408*)
Single nucleotide variant
(nonsense)
Cholestanol storage disease
GPathogenic
CYP27A1
(V413D)
Single nucleotide variant
(missense variant)
Cholestanol storage disease
GPathogenic
CYP27A1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
CYP27A1
Single nucleotide variant
(intron variant)
Cholestanol storage disease
GPathogenic
CYP27A1
Single nucleotide variant
(splice acceptor variant)
Cholestanol storage disease
GPathogenic
CYP27A1
(P468S)
Single nucleotide variant
(missense variant)
Cholestanol storage disease
GPathogenic
CYP27A1
(G472A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP27A1
(R474W)
Single nucleotide variant
(missense variant)
CYP27A1-related condition
+2 more
GPathogenic/Likely pathogenic
CYP27A1
(R474Q)
Single nucleotide variant
(missense variant)
CYP27A1-related condition
+2 more
GPathogenic
CYP27A1
(R479G)
Single nucleotide variant
(missense variant)
Cholestanol storage disease
+1 more
GConflicting classifications of pathogenicity
CYP27A1
(R479C)
Single nucleotide variant
(missense variant)
CYP27A1-related condition
+2 more
GConflicting classifications of pathogenicity
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