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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HNF1B
(G440E)
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
GLikely benign
HNF1B
Deletion
(splice donor variant)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
HNF1B
(E78*)
Single nucleotide variant
(nonsense)
Type 2 diabetes mellitus
+2 more
GPathogenic
HNF1B
Deletion
(nonsense)
Renal cysts and diabetes syndrome
+1 more
GPathogenic/Likely pathogenic
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