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Links from MedGen

Items: 1 to 100 of 274

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INSR
(T925M +1 more)
Single nucleotide variant
(missense variant)
Leprechaunism syndrome
GLikely pathogenic
INSR
Single nucleotide variant
(splice donor variant)
Leprechaunism syndrome
GLikely pathogenic
INSR
(E517G)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
INSR
(T211I)
Single nucleotide variant
(missense variant)
Leprechaunism syndrome
GPathogenic
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(5 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+2 more
GBenign
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(synonymous variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(synonymous variant)
Leprechaunism syndrome
+3 more
GConflicting classifications of pathogenicity
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
(S829N +1 more)
Single nucleotide variant
(missense variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(intron variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
(V950I +1 more)
Single nucleotide variant
(missense variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(synonymous variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(synonymous variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
(R759Q +1 more)
Single nucleotide variant
(missense variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
(V900I +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
INSR
(C1008S +1 more)
Single nucleotide variant
(missense variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(synonymous variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Leprechaunism syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Leprechaunism syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(intron variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(synonymous variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
(T1270A +1 more)
Single nucleotide variant
(missense variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+2 more
GLikely benign
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Leprechaunism syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Leprechaunism syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
(R74Q)
Single nucleotide variant
(missense variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
(A663V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
INSR
(D261E)
Single nucleotide variant
(missense variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+2 more
GUncertain significance
INSR
Single nucleotide variant
(synonymous variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+2 more
GUncertain significance
INSR
Single nucleotide variant
(synonymous variant)
Leprechaunism syndrome
+3 more
GUncertain significance
INSR
(E782K +1 more)
Single nucleotide variant
(missense variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+2 more
GUncertain significance
INSR
(V854I +1 more)
Single nucleotide variant
(missense variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+2 more
GUncertain significance
INSR
(H856Y +1 more)
Single nucleotide variant
(missense variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+2 more
GUncertain significance
INSR
Single nucleotide variant
(synonymous variant)
Hyperinsulinism due to INSR deficiency
+4 more
GConflicting classifications of pathogenicity
INSR
(R1366P +1 more)
Single nucleotide variant
(missense variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+2 more
GUncertain significance
INSR
(N1368S +1 more)
Single nucleotide variant
(missense variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Leprechaunism syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Rabson-Mendenhall syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Leprechaunism syndrome
+2 more
GUncertain significance
INSR
Single nucleotide variant
(3 prime UTR variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+2 more
GUncertain significance
INSR
(P755S)
Single nucleotide variant
(missense variant +1 more)
INSR-related disorder
+5 more
GConflicting classifications of pathogenicity
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)
not specified
+5 more
GConflicting classifications of pathogenicity
INSR
(G192D)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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
(N309del)
Microsatellite
(inframe_deletion)
Leprechaunism syndrome
GUncertain significance
INSR
Indel
(intron variant)
Rabson-Mendenhall syndrome
+4 more
GBenign/Likely benign
INSR
(R604W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
INSR
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
INSR
(R796S +1 more)
Single nucleotide variant
(missense variant)
Leprechaunism syndrome
+6 more
GConflicting classifications of pathogenicity
INSR
(S1001fs +1 more)
Indel
(frameshift variant)
Leprechaunism syndrome
Gnot provided
INSR
(I56T)
Single nucleotide variant
(missense variant)
Leprechaunism syndrome
Gnot provided
INSR
(R833Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance/Uncertain risk allele
INSR
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
INSR
Single nucleotide variant
(intron variant)
Rabson-Mendenhall syndrome
+2 more
GBenign
INSR
Single nucleotide variant
(intron variant)
Leprechaunism syndrome
+2 more
GBenign
INSR
(A706D)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
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)
Hyperinsulinism due to INSR deficiency
+5 more
GBenign/Likely benign
INSR
(V657F)
Deletion
(missense variant)
Leprechaunism syndrome
GPathogenic
INSR
Single nucleotide variant
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+2 more
GBenign
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