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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDX1
(C18R)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 4
+3 more
GUncertain significance
PDX1
(P33T)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 4
+5 more
GConflicting classifications of pathogenicity
PDX1
(P63fs)
Deletion
(frameshift variant)
Maturity-onset diabetes of the young type 4
+4 more
GConflicting classifications of pathogenicity
PDX1
(D76N)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+5 more
GConflicting classifications of pathogenicity
PDX1
(E224K)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+5 more
GConflicting classifications of pathogenicity
PDX1
(P242L)
Single nucleotide variant
(missense variant)
Pancreatic hypoplasia
+4 more
GConflicting classifications of pathogenicity
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