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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CENPF, LOC126806006
(Q116E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CENPF
(M670I)
Single nucleotide variant
(missense variant)
Stromme syndrome
GUncertain significance
CENPF
(R1642Q)
Single nucleotide variant
(missense variant)
Stromme syndrome
+1 more
GConflicting classifications of pathogenicity
CENPF
(S2072P)
Single nucleotide variant
(missense variant)
Stromme syndrome
GConflicting classifications of pathogenicity
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