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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RFXANK
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RFXANK
(D121V +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
RFXANK
(Y186* +3 more)
Single nucleotide variant
(nonsense)
MHC class II deficiency
+1 more
GPathogenic/Likely pathogenic
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