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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ11
(R221H +1 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
KCNJ11
(S265I +1 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+2 more
GUncertain significance
KCNJ11
(V290M +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemia
+2 more
GConflicting classifications of pathogenicity
KCNJ11
(T62R)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemia
+3 more
GLikely pathogenic
KCNJ11
(T294M +1 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
KCNJ11
Single nucleotide variant
(synonymous variant)
Maturity-onset diabetes of the young type 13
+5 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Hyperinsulinemia
+7 more
GConflicting classifications of pathogenicity
HNF4A
(R60W +3 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
HNF4A
(R309C +3 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
ABCC8
Single nucleotide variant
(intron variant)
Diabetes mellitus, permanent neonatal 3
+6 more
GConflicting classifications of pathogenicity
KCNJ11
(F60Y)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemia
GUncertain significance
KCNJ11
(G156R +1 more)
Single nucleotide variant
(missense variant)
Hypoglycemia
+1 more
GConflicting classifications of pathogenicity
KCNJ11
(R201H +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, permanent neonatal 2
+4 more
GConflicting classifications of pathogenicity
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