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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP7B1
(R370H)
Single nucleotide variant
(missense variant)
Congenital bile acid synthesis defect 3
GUncertain significance
CYP7B1
(R486H)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 5A
+2 more
GUncertain significance
CYP7B1
(E321K)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
CYP7B1
(C449Y)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GPathogenic
CYP7B1, LOC130000507
(S6C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CYP7B1
(K117T)
Single nucleotide variant
(missense variant)
Congenital bile acid synthesis defect 3
+2 more
GUncertain significance
CYP7B1
(K430fs)
Duplication
(frameshift variant +1 more)
Hereditary spastic paraplegia 5A
+2 more
GPathogenic/Likely pathogenic
CYP7B1
(T177M)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GUncertain significance
CYP7B1
Single nucleotide variant
(intron variant)
Spastic paraplegia
+3 more
GBenign/Likely benign
CYP7B1
(R112*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GConflicting classifications of pathogenicity
CYP7B1
(R486C)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GPathogenic/Likely pathogenic
CYP7B1
(R388*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 5A
+1 more
GPathogenic
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