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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130056709, NIPA1
(A4V)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia
GUncertain significance
LOC130056709, NIPA1
Deletion
(inframe_deletion +1 more)
Hereditary spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
LOC130056709, NIPA1
(A16del)
Deletion
(inframe_deletion +1 more)
not provided
+2 more
GBenign/Likely benign
LOC130056709, NIPA1
Microsatellite
(inframe_insertion +1 more)
Hereditary spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
LOC130056709, NIPA1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 6
+2 more
GConflicting classifications of pathogenicity
LOC130056709, NIPA1
Microsatellite
(inframe_insertion +1 more)
Hereditary spastic paraplegia 6
+3 more
GBenign/Likely benign
LOC130056709, NIPA1
Microsatellite
(inframe_insertion +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
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