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Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INSR
(G1338D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(G1330S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(R1319C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
INSR
(P1296S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(H1295Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(L1282V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
INSR
(M1136I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(S1101G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(R1068Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
INSR
(S1064N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(R1015Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(V944M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(A931V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(S910N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(V867I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(T858M +1 more)
Single nucleotide variant
(missense variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+6 more
GConflicting classifications of pathogenicity
INSR
(R819H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
INSR
(R796S +1 more)
Single nucleotide variant
(missense variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+6 more
GConflicting classifications of pathogenicity
INSR
(V776M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(V762M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
INSR
(V758A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(G765S +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
INSR
(R756K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
INSR
(S748L)
Single nucleotide variant
(missense variant +1 more)
Rabson-Mendenhall syndrome
+6 more
GConflicting classifications of pathogenicity
INSR
(V742I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(E701K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
INSR
(E660D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(P645T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(T543M)
Single nucleotide variant
(missense variant)
Rabson-Mendenhall syndrome
+4 more
GUncertain significance
INSR
(A537V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(N432S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(E418K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(R413H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(V362I)
Single nucleotide variant
(missense variant)
Leprechaunism syndrome
+5 more
GUncertain significance
INSR
(R358Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(Q299E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(R297Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(D247N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
INSR
(C235F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
INSR
(I222T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
Microsatellite
(intron variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
INSR
Microsatellite
(intron variant)
Insulin-resistant diabetes mellitus AND acanthosis nigricans
+5 more
GConflicting classifications of pathogenicity
INSR
(G203E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(K193R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
INSR
(N150D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(L76V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
INSR
(L14P)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+6 more
GConflicting classifications of pathogenicity
INSR
(R7W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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