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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTLC1
(V471I +3 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 1A
+4 more
GBenign/Likely benign
SPTLC1
Single nucleotide variant
(synonymous variant +1 more)
Neuropathy, hereditary sensory and autonomic, type 1A
+5 more
GLikely benign