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Links from MedGen

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INS, INS-IGF2
(P52H)
Single nucleotide variant
(missense variant +1 more)
Maturity-onset diabetes of the young type 10
GUncertain significance
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
(L39F)
Single nucleotide variant
(missense variant +1 more)
Maturity-onset diabetes of the young type 10
GLikely pathogenic
INS, INS-IGF2
(S76N)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(P52L)
Single nucleotide variant
(missense variant +1 more)
Maturity-onset diabetes of the young type 10
GPathogenic
INS, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
Maturity-onset diabetes of the young type 10
+4 more
GBenign/Likely benign
INS, INS-IGF2
Single nucleotide variant
(intron variant)
Transient Neonatal Diabetes, Dominant/Recessive
+1 more
GUncertain significance
INS, INS-IGF2
(A23T)
Single nucleotide variant
(missense variant +1 more)
not specified
+8 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(T97S)
Single nucleotide variant
(missense variant +1 more)
Neonatal insulin-dependent diabetes mellitus
+1 more
GConflicting classifications of pathogenicity
INS
Single nucleotide variant
Diabetes mellitus, permanent neonatal 4
+5 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(E93G)
Single nucleotide variant
(missense variant +1 more)
Maturity-onset diabetes of the young type 10
+1 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
Single nucleotide variant
(5 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 10
+2 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
+1 more
Insertion
(5 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+4 more
GBenign
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
(G44R)
Single nucleotide variant
(missense variant +1 more)
Maturity-onset diabetes of the young type 10
+2 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
Single nucleotide variant
(intron variant)
Maturity-onset diabetes of the young type 10
+2 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 10
+2 more
GConflicting classifications of pathogenicity
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
(3 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 10
+2 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 10
+2 more
GConflicting classifications of pathogenicity
INS-IGF2, INS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
+1 more
Single nucleotide variant
(intron variant)
not specified
+8 more
GBenign/Likely benign
INS, INS-IGF2
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive DOPA responsive dystonia
+5 more
GBenign/Likely benign
INS, INS-IGF2
(V42A)
Single nucleotide variant
(missense variant +1 more)
Maturity-onset diabetes of the young type 10
GConflicting classifications of pathogenicity
INS, INS-IGF2
Single nucleotide variant
(intron variant)
Type 1 diabetes mellitus 2
+8 more
GBenign/Likely benign
INS, INS-IGF2
(R6H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance/Uncertain risk allele
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)
not specified
+7 more
GBenign/Likely benign
INS, INS-IGF2
(R46Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(R6C)
Single nucleotide variant
(missense variant +1 more)
Maturity-onset diabetes of the young type 10
GLikely risk allele
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