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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTLC2
(R484W)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 1C
+1 more
GUncertain significance
SPTLC2
(S384F)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 1C
+1 more
GPathogenic/Likely pathogenic
SPTLC2
(M149I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTLC2
(A144V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTLC2
(E119V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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