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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HNF1B, LOC126862549
Deletion
(splice donor variant)
not provided
GPathogenic
HNF1B, LOC126862549
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+6 more
GConflicting classifications of pathogenicity
HNF1B, LOC126862549
(D194H +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
HNF1B, LOC126862549
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+5 more
GBenign/Likely benign
HNF1B, LOC126862549
(M193T)
Single nucleotide variant
(missense variant +1 more)
Nonpapillary renal cell carcinoma
+4 more
GUncertain significance
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