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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPG7, LOC130059818
(A2T)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
+3 more
GConflicting classifications of pathogenicity
SPG7, LOC130059818
(L7M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130059818, SPG7
(P27R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
+2 more
GUncertain significance
SPG7, LOC130059818
(E54G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SPG7
(S62N)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
+1 more
GUncertain significance
SPG7
(Q93H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPG7
(Q108R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPG7
(D135E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPG7
(P206A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPG7
(R207W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SPG7
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SPG7
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 7
+1 more
GPathogenic/Likely pathogenic
SPG7
(R322H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPG7
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
SPG7
(A339T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPG7
(G349S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
SPG7
(V379M)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
+1 more
GUncertain significance
SPG7
(V405I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SPG7
(R457*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
SPG7
(R470Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SPG7
Deletion
(splice acceptor variant)
Hereditary spastic paraplegia 7
+10 more
GPathogenic
SPG7
(A510V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+10 more
GPathogenic/Likely pathogenic
SPG7
(I521V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPG7
(A533V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SPG7
(V594A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPG7
(D650N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SPG7
(M699fs)
Duplication
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SPG7
(L706P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPG7
(A759T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 7
+2 more
GConflicting classifications of pathogenicity
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