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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLG, POLGARF
(V1044A)
Single nucleotide variant
(missense variant)
Progressive sclerosing poliodystrophy
+11 more
GConflicting classifications of pathogenicity
SYNJ1
Single nucleotide variant
(intron variant)
Early-onset Parkinson disease 20
+1 more
GLikely benign
SYNJ1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
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