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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDX1
(G3A)
Single nucleotide variant
(missense variant)
Pancreatic hypoplasia
+4 more
GUncertain significance
PDX1
(C18R)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 4
+3 more
GUncertain significance
PDX1
(P33H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PDX1
(P63fs)
Deletion
(frameshift variant)
Pancreatic agenesis 1
+4 more
GConflicting classifications of pathogenicity
PDX1
(P71T)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+5 more
GUncertain significance
PDX1
Single nucleotide variant
(synonymous variant)
Neonatal diabetes mellitus
+4 more
GLikely benign
PDX1
(P99H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PDX1
Single nucleotide variant
(synonymous variant)
Pancreatic agenesis 1
+5 more
GLikely benign
PDX1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
PDX1
(P240R)
Single nucleotide variant
(missense variant)
Pancreatic agenesis 1
+6 more
GUncertain significance
PDX1
(V274F)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PDX1
(E281Q)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+3 more
GUncertain significance
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