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Items: 15

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
NIPA1
(A89V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NIPA1
(V134I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NIPA1
(I137V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NIPA1
(V93M +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 6
+1 more
GUncertain significance
NIPA1
(N112D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NIPA1
(N220S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NIPA1
(G238S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NIPA1
(D181N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NIPA1
(L232R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NIPA1
(V310M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
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