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Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP7B1
(K503E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CYP7B1
Single nucleotide variant
(synonymous variant +1 more)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
CYP7B1
Single nucleotide variant
(intron variant +1 more)
Spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
CYP7B1
(L487F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CYP7B1
(L487fs)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP7B1
(R486C)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GPathogenic/Likely pathogenic
CYP7B1
(I480T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CYP7B1
(I459T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CYP7B1
(I419T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CYP7B1
(D391N)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GUncertain significance
CYP7B1
(D391H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP7B1
(L362P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP7B1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
CYP7B1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CYP7B1
(R324G)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
CYP7B1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
CYP7B1
(V318G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CYP7B1
(R310W)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
CYP7B1
(L280P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP7B1
(D279N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP7B1
(E278K)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GUncertain significance
CYP7B1
(Y275*)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+3 more
GPathogenic
CYP7B1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CYP7B1
(A255D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP7B1
(I232T)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
CYP7B1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
CYP7B1
(R213T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP7B1
(S210N)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
CYP7B1
(E190K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP7B1
(T177M)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GUncertain significance
CYP7B1
(W175C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP7B1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 5A
+2 more
GConflicting classifications of pathogenicity
CYP7B1
(P167R)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
CYP7B1
(F165Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP7B1
(N160D)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
CYP7B1
(G147D)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 5A
+2 more
GConflicting classifications of pathogenicity
CYP7B1
(K117T)
Single nucleotide variant
(missense variant)
Congenital bile acid synthesis defect 3
+2 more
GUncertain significance
CYP7B1
(K117E)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+4 more
GUncertain significance
CYP7B1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
CYP7B1
(R112*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GConflicting classifications of pathogenicity
CYP7B1
Duplication
(intron variant)
Spastic Paraplegia, Recessive
+4 more
GConflicting classifications of pathogenicity
CYP7B1
(R63Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP7B1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
CYP7B1
(I49M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP7B1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
CYP7B1
(R42K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CYP7B1
Deletion
(intron variant)
Spastic paraplegia
+3 more
GBenign/Likely benign
CYP7B1
Single nucleotide variant
(intron variant)
Spastic paraplegia
+3 more
GBenign/Likely benign
CYP7B1
(L35F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP7B1
(C34Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CYP7B1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
CYP7B1
(A32S)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
CYP7B1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+4 more
GConflicting classifications of pathogenicity
CYP7B1
(L19P)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign
CYP7B1, LOC130000507
(R11L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP7B1, LOC130000507
(A7P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP7B1, LOC130000507
(S6C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP7B1, LOC130000507
(G3E)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
CYP7B1, LOC130000507
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
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