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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTLC1
(E358Q +2 more)
Single nucleotide variant
(missense variant)
Hereditary sensory and autonomic neuropathy type 1
GLikely pathogenic
AGTPBP1, ASPN
+79 more
Copy number gain
not provided
GPathogenic