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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HNF1B
(T537N +1 more)
Single nucleotide variant
(missense variant +1 more)
Renal cysts and diabetes syndrome
+1 more
GUncertain significance
HNF1B
(S346fs +1 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
HNF1B
(H336D +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HNF1B
(D82N)
Single nucleotide variant
(missense variant)
Renal cysts and diabetes syndrome
+4 more
GConflicting classifications of pathogenicity
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