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Items: 1 to 100 of 113

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP27A1
Single nucleotide variant
(5 prime UTR variant)
Cholestanol storage disease
+2 more
GConflicting classifications of pathogenicity
CYP27A1
(M1T)
Single nucleotide variant
(missense variant +1 more)
CYP27A1-related condition
+3 more
GConflicting classifications of pathogenicity
CYP27A1
(R8fs)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CYP27A1
(C21W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP27A1
(K28T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CYP27A1
(S37L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP27A1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
CYP27A1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
CYP27A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP27A1
(V50I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CYP27A1
(R53L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
CYP27A1
(L81M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
CYP27A1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
CYP27A1
(Q83P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP27A1
Single nucleotide variant
(intron variant)
CYP27A1-related condition
+2 more
GConflicting classifications of pathogenicity
CYP27A1
Single nucleotide variant
(splice acceptor variant)
Cholestanol storage disease
+1 more
GPathogenic
CYP27A1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CYP27A1
(V86M)
Single nucleotide variant
(missense variant)
Cholestanol storage disease
+1 more
GBenign/Likely benign
CYP27A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP27A1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
CYP27A1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CYP27A1
(T148S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP27A1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
CYP27A1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
CYP27A1
(R158C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP27A1
(Q159*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
CYP27A1
(R164W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP27A1
(R164P)
Single nucleotide variant
(missense variant)
Cholestanol storage disease
+3 more
GConflicting classifications of pathogenicity
CYP27A1
(R164Q)
Single nucleotide variant
(missense variant)
CYP27A1-related condition
+3 more
GConflicting classifications of pathogenicity
CYP27A1
(A172V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP27A1
(D176G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP27A1
(N179S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CYP27A1
(I182M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CYP27A1
(R193Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CYP27A1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
CYP27A1
(M205V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CYP27A1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CYP27A1
Single nucleotide variant
(intron variant)
CYP27A1-related condition
+2 more
GConflicting classifications of pathogenicity
CYP27A1
(I217L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP27A1
(F222fs)
Deletion
(frameshift variant)
Cholestanol storage disease
+1 more
GPathogenic/Likely pathogenic
CYP27A1
(C228R)
Single nucleotide variant
(missense variant)
Cholestanol storage disease
+1 more
GUncertain significance
CYP27A1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
CYP27A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP27A1
(E235K)
Single nucleotide variant
(missense variant)
CYP27A1-related condition
+2 more
GConflicting classifications of pathogenicity
CYP27A1
(V238M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CYP27A1
(V241I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP27A1
(K259fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CYP27A1
(P263R)
Single nucleotide variant
(missense variant)
Cholestanol storage disease
+1 more
GUncertain significance
CYP27A1
Single nucleotide variant
(synonymous variant)
Cholestanol storage disease
+2 more
GConflicting classifications of pathogenicity
CYP27A1
(V264M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CYP27A1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
CYP27A1
(W268R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP27A1
(R270G)
Single nucleotide variant
(missense variant)
Cholestanol storage disease
+1 more
GUncertain significance
CYP27A1
(R270*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CYP27A1
(R270Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CYP27A1
(Q296*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CYP27A1
Single nucleotide variant
(synonymous variant)
CYP27A1-related condition
+3 more
GConflicting classifications of pathogenicity
CYP27A1
(V307L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP27A1
(L315fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CYP27A1
(L320F)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CYP27A1
(R323W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CYP27A1
(A325V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP27A1
Single nucleotide variant
(synonymous variant)
Cholestanol storage disease
+2 more
GConflicting classifications of pathogenicity
CYP27A1
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
CYP27A1
(T340I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP27A1
(T343M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CYP27A1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CYP27A1
(S352L)
Single nucleotide variant
(missense variant)
Cholestanol storage disease
+1 more
GUncertain significance
CYP27A1
(L361F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP27A1
(H362R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP27A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP27A1
(V368L)
Indel
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
CYP27A1
(G372R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CYP27A1
(M383K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CYP27A1
(P384L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CYP27A1
(K387N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP27A1
(E392A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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)
not provided
+1 more
GPathogenic
CYP27A1
(P398T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP27A1
(N403D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP27A1
(R405W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
CYP27A1
(R405Q)
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
Deletion
(intron variant)
Cholestanol storage disease
+1 more
GConflicting classifications of pathogenicity
CYP27A1
(Y429C)
Single nucleotide variant
(missense variant)
Cholestanol storage disease
+2 more
GUncertain significance
CYP27A1
(R433W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP27A1
(R433Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP27A1
Single nucleotide variant
(synonymous variant)
Cholestanol storage disease
+1 more
GConflicting classifications of pathogenicity
CYP27A1
(R448S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP27A1
(R448H)
Single nucleotide variant
(missense variant)
Cholestanol storage disease
+1 more
GUncertain significance
CYP27A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP27A1
(Q461*)
Single nucleotide variant
(nonsense)
Cholestanol storage disease
+1 more
GPathogenic
CYP27A1
Single nucleotide variant
(synonymous variant)
Cholestanol storage disease
+2 more
GConflicting classifications of pathogenicity
CYP27A1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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
CYP27A1
(R479H)
Single nucleotide variant
(missense variant)
Cholestanol storage disease
+2 more
GConflicting classifications of pathogenicity
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