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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPAST
(S44L)
Single nucleotide variant
(missense variant)
SPAST-related condition
+5 more
GBenign/Likely benign; other; risk factor
SPAST
(S93P)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
+1 more
GUncertain significance
SPAST
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
SPAST
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SPAST
(R499H +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GPathogenic/Likely pathogenic
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