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Links from MedGen

Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP7B1
(G21fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 5A
GUncertain significance
CYP7B1
(R388G)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 5A
GLikely pathogenic
REEP2
(A207G +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 5A
Gnot provided
CYP7B1
Indel
(nonsense +1 more)
Hereditary spastic paraplegia 5A
GPathogenic
CYP7B1
(P398L)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
CYP7B1
(G390*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 5A
GPathogenic
CYP7B1
(S354N)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
CYP7B1
(N105fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 5A
+1 more
GPathogenic/Likely pathogenic
CYP7B1
Single nucleotide variant
(splice acceptor variant)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
CYP7B1
(G57A)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 5A
GPathogenic
CYP7B1
(G51R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 5A
GPathogenic
CYP7B1
(A23fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 5A
GPathogenic
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
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+2 more
GBenign/Likely benign
CYP7B1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
CYP7B1
(D95Y)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 5A
GUncertain significance
CYP7B1
(K253E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CYP7B1
(H277P)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 5A
+2 more
GConflicting classifications of pathogenicity
CYP7B1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 5A
GUncertain significance
CYP7B1
Single nucleotide variant
(5 prime UTR variant)
Hereditary spastic paraplegia 5A
+1 more
GConflicting classifications of pathogenicity
CYP7B1
Single nucleotide variant
(5 prime UTR variant)
Hereditary spastic paraplegia 5A
GUncertain significance
CYP7B1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 5A
GUncertain significance
CYP7B1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 5A
+1 more
GBenign/Likely benign
CYP7B1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 5A
GUncertain significance
CYP7B1
(L217fs)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CYP7B1
(S364L)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 5A
+1 more
GConflicting classifications of pathogenicity
CYP7B1
(P441L)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+1 more
GUncertain significance
MCOLN1
(G293R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 5A
GUncertain significance
CYP7B1
(H285L)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GPathogenic
CYP7B1
(H401R)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GLikely pathogenic
CYP7B1
(C34Y)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CYP7B1
(R319C)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 5A
+1 more
GUncertain significance
CYP7B1
(R417C)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
CYP2U1, CYP2U1-AS1
(H124Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 5A
GUncertain significance
ALDH18A1
(S744W +5 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 5A
+3 more
GConflicting classifications of pathogenicity
CYP7B1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 5A
+4 more
GConflicting classifications of pathogenicity
CYP7B1
(A32S)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
CYP7B1
(R452*)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
CYP7B1
(R63*)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+2 more
GPathogenic
GBA2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 5A
+2 more
GConflicting classifications of pathogenicity
GBA2
(E499K)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GUncertain significance
CYP7B1
(K430fs)
Duplication
(frameshift variant +1 more)
Hereditary spastic paraplegia 5A
+2 more
GPathogenic/Likely pathogenic
CYP7B1
(G147D)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
CYP7B1
Single nucleotide variant
(5 prime UTR variant)
Hereditary spastic paraplegia 5A
GUncertain significance
CYP7B1, LOC130000508
Single nucleotide variant
(5 prime UTR variant)
Hereditary spastic paraplegia 5A
GUncertain significance
CYP7B1, LOC130000508
Single nucleotide variant
(5 prime UTR variant)
Hereditary spastic paraplegia 5A
+1 more
GBenign/Likely benign
CYP7B1, LOC130000508
Single nucleotide variant
(5 prime UTR variant)
Hereditary spastic paraplegia 5A
GUncertain significance
CYP7B1, LOC130000507
Single nucleotide variant
(5 prime UTR variant)
Hereditary spastic paraplegia 5A
GUncertain significance
CYP7B1
(L31Q)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
CYP7B1
(M70K)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 5A
GUncertain significance
CYP7B1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 5A
GUncertain significance
CYP7B1
(K117E)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 5A
+4 more
GUncertain significance
CYP7B1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CYP7B1
(R310Q)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 5A
+2 more
GUncertain significance
CYP7B1
(R324H)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GBenign
CYP7B1
(H340Y)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
CYP7B1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GUncertain significance
CYP7B1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 5A
GUncertain significance
CYP7B1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
CYP7B1
Single nucleotide variant
(intron variant +1 more)
Hereditary spastic paraplegia 5A
GUncertain significance
CYP7B1
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 5A
GBenign
CYP7B1
(R42K)
Single nucleotide variant
(missense variant)
CYP7B1-related disorder
+3 more
GUncertain significance
CYP7B1
Single nucleotide variant
(intron variant)
Spastic paraplegia
+3 more
GBenign/Likely benign
CYP7B1
Single nucleotide variant
(splice donor variant)
Spastic paraplegia
+1 more
GPathogenic
CYP7B1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
CYP7B1
(P20L)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
CYP7B1
(L19P)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 5A
+4 more
GBenign
CYP7B1
(T297A)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 5A
+3 more
GPathogenic
CYP7B1
(G87V)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
C19orf12
(K142E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
CYP7B1
(R486C)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+5 more
GPathogenic/Likely pathogenic
CYP7B1
(F470I)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 5A
GPathogenic
CYP7B1
(Y275*)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+3 more
GPathogenic
CYP7B1
(F216S)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 5A
GPathogenic
CYP7B1
(R417H)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+4 more
GPathogenic/Likely pathogenic
CYP7B1
(G57R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 5A
GPathogenic
CYP7B1
(S363F)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
CYP7B1
(R388*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 5A
+1 more
GPathogenic
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