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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INS, INS-IGF2
(L39F)
Single nucleotide variant
(missense variant +1 more)
Maturity-onset diabetes of the young type 10
GLikely pathogenic
CTSD, H19
+15 more
Copy number gain
Beckwith-Wiedemann syndrome
GPathogenic