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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HNF4A
(R109S +3 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 1
GLikely pathogenic
HNF4A
(S117* +3 more)
Single nucleotide variant
(nonsense)
Maturity-onset diabetes of the young type 1
GLikely pathogenic