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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PNPLA6
(A618V +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 39
+1 more
GConflicting classifications of pathogenicity
PNPLA6
(G975E +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 39
GConflicting classifications of pathogenicity
PNPLA6
(R1031fs +3 more)
Duplication
(frameshift variant)
not provided
+7 more
GPathogenic
PNPLA6
(R1311W +3 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 39
+8 more
GConflicting classifications of pathogenicity
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