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Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP7B1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
CYP7B1
(R486C)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 5A
+4 more
GPathogenic/Likely pathogenic
CYP7B1
(C437G)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia
GUncertain significance
CYP7B1
(L435P)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia
GUncertain significance
CYP7B1
(R417H)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
CYP7B1
(F407S)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+1 more
GUncertain significance
CYP7B1
(S363F)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
CYP7B1
(E344A)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
CYP7B1
(R324H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign
CYP7B1
(V318G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CYP7B1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia
+2 more
GUncertain significance
CYP7B1
(E278K)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GUncertain significance
CYP7B1
(Y275*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 5A
+3 more
GPathogenic
CYP7B1
(L217fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia
+2 more
GPathogenic/Likely pathogenic
CYP7B1
(T172N)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
CYP7B1
(K117E)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+4 more
GUncertain significance
CYP7B1
(R112*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
CYP7B1
(N105fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 5A
+1 more
GPathogenic/Likely pathogenic
CYP7B1
(L85del)
Microsatellite
(inframe_deletion)
Hereditary spastic paraplegia
GUncertain significance
CYP7B1
Duplication
(intron variant)
Spastic Paraplegia, Recessive
+3 more
GConflicting classifications of pathogenicity
CYP7B1
Deletion
(intron variant)
Spastic paraplegia
+3 more
GBenign/Likely benign
CYP7B1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
CYP7B1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+2 more
GBenign/Likely benign
CYP7B1
(L19P)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+4 more
GBenign
CYP7B1, LOC130000507
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
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