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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEL
(R235*)
Single nucleotide variant
(nonsense)
Maturity-onset diabetes of the young type 8
GLikely pathogenic
CEL
(V593fs)
Duplication
(frameshift variant)
Maturity-onset diabetes of the young type 8
GLikely pathogenic