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Links from MedGen

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INS, INS-IGF2
(L35Q)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 4
GLikely risk allele
INS, INS-IGF2
(M1V)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GPathogenic/Likely pathogenic
INS
Single nucleotide variant
not specified
+5 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(A23T)
Single nucleotide variant
(missense variant +1 more)
not specified
+8 more
GConflicting classifications of pathogenicity
INS
Single nucleotide variant
Diabetes mellitus, permanent neonatal 4
+5 more
GConflicting classifications of pathogenicity
INS
Deletion
Diabetes mellitus, permanent neonatal 4
GUncertain significance
INS, INS-IGF2
(P9S)
Single nucleotide variant
(missense variant +1 more)
INS-related disorder
+6 more
GUncertain significance
INS-IGF2, TH
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive DOPA responsive dystonia
+7 more
GBenign/Likely benign
INS, INS-IGF2
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
+8 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
Single nucleotide variant
(intron variant)
Diabetes mellitus, permanent neonatal 4
GUncertain significance
INS, INS-IGF2
+1 more
Single nucleotide variant
(intron variant)
not specified
+8 more
GBenign/Likely benign
INS, INS-IGF2
Single nucleotide variant
(intron variant)
not provided
+3 more
GPathogenic/Likely risk allele
INS, INS-IGF2
Single nucleotide variant
(intron variant)
Type 1 diabetes mellitus 2
+8 more
GBenign/Likely benign
INS-IGF2, INS
(H29D)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 4
GUncertain significance
INS, INS-IGF2
(Y103C)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
INS-IGF2, INS
(S101C)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 4
GLikely risk allele
INS, INS-IGF2
(G84R)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 4
GUncertain significance
INS, INS-IGF2
(M1I)
Single nucleotide variant
(missense variant +2 more)
Diabetes mellitus, permanent neonatal 4
GUncertain significance
INS, INS-IGF2
Single nucleotide variant
(intron variant)
not provided
+7 more
GBenign/Likely benign
INS, INS-IGF2
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 10
+7 more
GBenign/Likely benign
INS, INS-IGF2
(G32S)
Single nucleotide variant
(missense variant +1 more)
Permanent neonatal diabetes mellitus
+4 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(Y108C)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 4
GLikely risk allele
INS, INS-IGF2
(G90C)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 4
GUncertain significance
INS, INS-IGF2
(R89C)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 4
+3 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(G47V)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 4
GUncertain significance
INS, INS-IGF2
(C43G)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
GLikely risk allele
INS, INS-IGF2
(R46Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(F48C)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 4
+1 more
GLikely pathogenic/Likely risk allele
INS-IGF2, INS
(A24D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely risk allele
INS, INS-IGF2
(C96Y)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(V92L)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 4
GUncertain significance
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