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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ11
(P21T)
Single nucleotide variant
(missense variant +2 more)
Type 1 diabetes mellitus 20
+3 more
GUncertain significance
HNF1A
(R114H)
Single nucleotide variant
(missense variant)
Type 1 diabetes mellitus 20
+5 more
GUncertain significance
HNF1A
Deletion
(inframe_deletion)
Maturity-onset diabetes of the young type 3
+5 more
GConflicting classifications of pathogenicity
HNF1A
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GConflicting classifications of pathogenicity
HNF1A
(H514R)
Single nucleotide variant
(missense variant)
Type 1 diabetes mellitus 20
+7 more
GConflicting classifications of pathogenicity
HNF1A
(V567I +1 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+4 more
GUncertain significance
HNF1A
(R583Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
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