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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RFX6
(Y192*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
RFX6
(V822I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RFX6
(G848D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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