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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PNPLA6
(A364P +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
PNPLA6
(P447L +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
PNPLA6
(V749M +3 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
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