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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLA2G6
(R710C +4 more)
Single nucleotide variant
(missense variant)
PLA2G6-associated neurodegeneration
+2 more
GConflicting classifications of pathogenicity
PLA2G6
Single nucleotide variant
(intron variant)
PLA2G6-associated neurodegeneration
+1 more
GConflicting classifications of pathogenicity
PLA2G6
(L129P)
Single nucleotide variant
(missense variant +1 more)
PLA2G6-associated neurodegeneration
+5 more
GConflicting classifications of pathogenicity
LOC112695092, LOC130067400
+2 more
Indel
Infantile neuroaxonal dystrophy
GPathogenic
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