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Links from MedGen

Items: 46

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INSR
(F658C)
Single nucleotide variant
(missense variant)
Hyperinsulinism due to INSR deficiency
GUncertain significance
INSR
(C235F)
Single nucleotide variant
(missense variant)
Hyperinsulinism due to INSR deficiency
GUncertain significance
INSR
(E517G)
Single nucleotide variant
(missense variant)
INSR-related disorder
+6 more
GConflicting classifications of pathogenicity
INSR
Single nucleotide variant
(synonymous variant)
Leprechaunism syndrome
+3 more
GUncertain significance
INSR
Single nucleotide variant
(synonymous variant)
Hyperinsulinism due to INSR deficiency
+4 more
GConflicting classifications of pathogenicity
INSR
(R525*)
Single nucleotide variant
(nonsense)
Hyperinsulinism due to INSR deficiency
+1 more
GLikely pathogenic
INSR
Deletion
(intron variant)
not provided
+5 more
GBenign/Likely benign
INSR
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
INSR
Single nucleotide variant
(synonymous variant)
Leprechaunism syndrome
+5 more
GConflicting classifications of pathogenicity
INSR
Single nucleotide variant
(synonymous variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+5 more
GConflicting classifications of pathogenicity
INSR
Single nucleotide variant
(intron variant)
Rabson-Mendenhall syndrome
+5 more
GBenign/Likely benign
INSR
(G1048D +1 more)
Single nucleotide variant
(missense variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+3 more
GUncertain significance
INSR
Indel
(intron variant)
Rabson-Mendenhall syndrome
+4 more
GBenign/Likely benign
INSR
(R796S +1 more)
Single nucleotide variant
(missense variant)
Leprechaunism syndrome
+6 more
GConflicting classifications of pathogenicity
INSR
(R833Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance/Uncertain risk allele
INSR
(D1259N +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance/Uncertain risk allele
INSR
(I1137T +1 more)
Single nucleotide variant
(missense variant)
Rabson-Mendenhall syndrome
+5 more
GUncertain significance
INSR
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
INSR
Single nucleotide variant
(synonymous variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+5 more
GBenign/Likely benign
INSR
(G5D)
Single nucleotide variant
(missense variant)
Rabson-Mendenhall syndrome
+4 more
GUncertain significance
INSR
Single nucleotide variant
(synonymous variant)
Hyperinsulinism due to INSR deficiency
+5 more
GConflicting classifications of pathogenicity
INSR
Single nucleotide variant
(synonymous variant)
Rabson-Mendenhall syndrome
+5 more
GBenign/Likely benign
INSR
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
INSR
Single nucleotide variant
(synonymous variant)
Rabson-Mendenhall syndrome
+5 more
GBenign/Likely benign
INSR
Single nucleotide variant
(synonymous variant)
Hyperinsulinism due to INSR deficiency
+6 more
GConflicting classifications of pathogenicity
INSR
Single nucleotide variant
(synonymous variant)
Hyperinsulinism due to INSR deficiency
+5 more
GBenign/Likely benign
INSR
(T543M)
Single nucleotide variant
(missense variant)
Rabson-Mendenhall syndrome
+4 more
GUncertain significance
INSR
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
INSR
(T858M +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
INSR
Single nucleotide variant
(synonymous variant)
Rabson-Mendenhall syndrome
+4 more
GBenign/Likely benign
INSR
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
INSR
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
INSR
Single nucleotide variant
(intron variant)
Hyperinsulinism due to INSR deficiency
+4 more
GBenign/Likely benign
INSR
(L14P)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
INSR
(R889W +1 more)
Single nucleotide variant
(missense variant)
Rabson-Mendenhall syndrome
+5 more
GConflicting classifications of pathogenicity
INSR
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
INSR
(L991I +1 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+5 more
GBenign/Likely benign
INSR
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GConflicting classifications of pathogenicity
INSR
Single nucleotide variant
(splice donor variant)
Hyperinsulinism due to INSR deficiency
GPathogenic
INSR
Single nucleotide variant
(synonymous variant)
Rabson-Mendenhall syndrome
+6 more
GBenign/Likely benign
INSR
Microsatellite
(intron variant)
Leprechaunism syndrome
+5 more
GBenign
INSR
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GConflicting classifications of pathogenicity
INSR
(L1065V +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinism due to INSR deficiency
+4 more
GUncertain significance
INSR
Single nucleotide variant
(synonymous variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+5 more
GBenign/Likely benign
INSR
(R1189Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
INSR
(R1008Q +1 more)
Single nucleotide variant
(missense variant)
Rabson-Mendenhall syndrome
+3 more
GLikely pathogenic
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