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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126859771, RFX6
(R578P)
Single nucleotide variant
(missense variant)
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
+4 more
GConflicting classifications of pathogenicity
RFX6
(T680K)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+3 more
GConflicting classifications of pathogenicity
RFX6
(G800A)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+2 more
GBenign/Likely benign
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