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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTLC1
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign/Likely benign
SPTLC1
(R151L +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary sensory and autonomic neuropathy type 1
+3 more
GBenign/Likely benign