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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130056709, NIPA1
Deletion
(inframe_deletion +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
LOC130056709, NIPA1
(S24G)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 6
GUncertain significance
NIPA1
(V286M +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
GUncertain significance
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