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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HNF1B
(S148L)
Single nucleotide variant
(missense variant)
Renal cysts and diabetes syndrome
+3 more
GPathogenic/Likely pathogenic
AATF, ACACA
+14 more
Copy number loss
HNF1B-related disorder
GPathogenic