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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPG7
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 7
GUncertain significance
SPG7
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SPG7
(G352fs)
Duplication
(frameshift variant)
not provided
+3 more
GPathogenic
SPG7
(Q435*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 7
GPathogenic
SPG7
Deletion
(splice acceptor variant)
Hereditary spastic paraplegia 7
+10 more
GPathogenic
SPG7
(A510V)
Single nucleotide variant
(missense variant)
SPG7-related condition
+11 more
GPathogenic/Likely pathogenic
SPG7
(A572V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
SPG7
(Q621*)
Single nucleotide variant
(nonsense)
Spastic ataxia
+1 more
GPathogenic/Likely pathogenic
SPG7
Deletion
(splice acceptor variant)
not provided
+1 more
GPathogenic
SPG7
(H701P)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
GPathogenic/Likely pathogenic
SPG7
(A731T +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 7
+1 more
GUncertain significance
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