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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTLC1
(G387A +2 more)
Single nucleotide variant
(missense variant)
Neuropathy, hereditary sensory and autonomic, type 1A
+4 more
GBenign/Likely benign
SPTLC1
(V144D +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease
+4 more
GPathogenic/Likely pathogenic
SPTLC1
(C133W)
Single nucleotide variant
(missense variant +1 more)
Hereditary sensory and autonomic neuropathy type 1
+1 more
GPathogenic
SPTLC1
(C133Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GPathogenic
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