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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+5 more
GUncertain significance
INSR
(L1065V +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinism due to INSR deficiency
+4 more
GUncertain significance
INSR
(G1048D +1 more)
Single nucleotide variant
(missense variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+3 more
GUncertain significance
INSR
(R1008Q +1 more)
Single nucleotide variant
(missense variant)
Rabson-Mendenhall syndrome
+3 more
GLikely pathogenic
INSR
Single nucleotide variant
(intron variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+4 more
GBenign/Likely benign
INSR
(R889W +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
INSR
(T858M +1 more)
Single nucleotide variant
(missense variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+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
(R796S +1 more)
Single nucleotide variant
(missense variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+6 more
GConflicting classifications of pathogenicity
INSR
Single nucleotide variant
(synonymous variant)
Leprechaunism syndrome
+3 more
GUncertain significance
INSR
(T543M)
Single nucleotide variant
(missense variant)
Rabson-Mendenhall syndrome
+4 more
GUncertain significance
INSR
(E517G)
Single nucleotide variant
(missense variant)
Rabson-Mendenhall syndrome
+5 more
GConflicting classifications of pathogenicity
INSR
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
INSR
Microsatellite
(intron variant)
not provided
+5 more
GBenign
INSR
Deletion
(intron variant)
not provided
+5 more
GBenign/Likely benign
INSR
Indel
(intron variant)
Rabson-Mendenhall syndrome
+4 more
GBenign/Likely benign
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