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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TECPR2
Microsatellite
(inframe_deletion)
Hereditary spastic paraplegia 49
GUncertain significance
TECPR2
(K471del)
Microsatellite
(inframe_deletion)
Hereditary spastic paraplegia 49
+1 more
GUncertain significance
TECPR2
(L684V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
TECPR2
(L1139fs)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 49
+1 more
GPathogenic/Likely pathogenic
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