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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RFX5
(G547S +1 more)
Single nucleotide variant
(missense variant)
MHC class II deficiency
+2 more
GConflicting classifications of pathogenicity
RFX5
(Q494fs +1 more)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
RFX5
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
RFX5
Single nucleotide variant
(intron variant +1 more)
not provided
GPathogenic
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