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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAPT
(S102N +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MAPT
(G215R +6 more)
Single nucleotide variant
(missense variant +1 more)
Frontotemporal dementia
+1 more
GConflicting classifications of pathogenicity
MAPT
Single nucleotide variant
(intron variant)
not provided
+5 more
GPathogenic
MAPT
(V680I +9 more)
Single nucleotide variant
(missense variant +2 more)
Frontotemporal dementia
+1 more
GPathogenic/Likely pathogenic
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