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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPAST
(S44L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign; other; risk factor
SPAST
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+3 more
GBenign/Likely benign
SPAST
(R460C +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 4
+2 more
GPathogenic
SPAST
(R499H +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
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