| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (intron variant) | SPTLC1-related condition | |
| | | Single nucleotide variant (missense variant) | Hereditary sensory and autonomic neuropathy type 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Neuropathy, hereditary sensory and autonomic, type 1A +5 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | SPTLC1-related condition +5 more | |
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