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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLA2G6
(Y790* +4 more)
Single nucleotide variant
(nonsense)
PLA2G6-related disorder
+11 more
GConflicting classifications of pathogenicity
PLA2G6
(P409A +4 more)
Single nucleotide variant
(missense variant)
Abnormality of the nervous system
GLikely pathogenic
PLA2G6
(A401V +4 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
PLA2G6
(W399* +4 more)
Single nucleotide variant
(nonsense)
Abnormality of the nervous system
GPathogenic
PLA2G6
(G258D +4 more)
Single nucleotide variant
(missense variant)
Abnormality of the nervous system
GLikely pathogenic
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