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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130056709, NIPA1
(A12T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC130056709, NIPA1
(P23S)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 6
+2 more
GUncertain significance
LOC130056709, NIPA1
(P23R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC130056709, NIPA1
(S29L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC130056709, NIPA1
(G43A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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