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Links from MedGen

Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INS, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
INS, INS-IGF2
(P52R)
Single nucleotide variant
(missense variant +1 more)
Neonatal insulin-dependent diabetes mellitus
GLikely pathogenic
INS, INS-IGF2
Single nucleotide variant
(intron variant)
Neonatal insulin-dependent diabetes mellitus
GBenign
INS, INS-IGF2
(E59fs)
Deletion
(frameshift variant +1 more)
Neonatal insulin-dependent diabetes mellitus
GLikely pathogenic
INS, INS-IGF2
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+4 more
GBenign/Likely benign
INS, INS-IGF2
(P9R)
Single nucleotide variant
(missense variant +1 more)
Neonatal insulin-dependent diabetes mellitus
GLikely risk allele
INS, INS-IGF2
(T97S)
Single nucleotide variant
(missense variant +1 more)
Neonatal insulin-dependent diabetes mellitus
+1 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
Deletion
(inframe_deletion +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(Y108del)
Microsatellite
(inframe_deletion +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
(S98C)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance/Uncertain risk allele
INS, INS-IGF2
Single nucleotide variant
(5 prime UTR variant +1 more)
Neonatal insulin-dependent diabetes mellitus
+1 more
GBenign/Likely benign
INS
Deletion
not specified
+2 more
GBenign
INS, INS-IGF2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+1 more
GUncertain significance
INS, INS-IGF2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
Single nucleotide variant
(intron variant)
Neonatal insulin-dependent diabetes mellitus
+1 more
GBenign/Likely benign
INS, INS-IGF2
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
Single nucleotide variant
(5 prime UTR variant +1 more)
Neonatal insulin-dependent diabetes mellitus
GLikely benign
GATA4
(V380M +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
INS, TH
Single nucleotide variant
(synonymous variant)
Transient Neonatal Diabetes, Dominant/Recessive
+4 more
GBenign/Likely benign
INS, TH
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+4 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
(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
Single nucleotide variant
(synonymous variant +1 more)
Maturity onset diabetes mellitus in young
+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
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
PTF1A
Single nucleotide variant
(synonymous variant)
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
+2 more
GConflicting classifications of pathogenicity
GATA6
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
Single nucleotide variant
(intron variant)
not provided
+3 more
GPathogenic/Likely risk allele
KCNJ11
(S3C)
Single nucleotide variant
(missense variant +1 more)
Neonatal insulin-dependent diabetes mellitus
GPathogenic
KCNJ11
(E179A +1 more)
Single nucleotide variant
(missense variant)
Neonatal hypoglycemia
+1 more
GConflicting classifications of pathogenicity
KCNJ11
(A174G +1 more)
Single nucleotide variant
(missense variant)
Neonatal insulin-dependent diabetes mellitus
GPathogenic
INS, INS-IGF2
Single nucleotide variant
(intron variant)
Type 1 diabetes mellitus 2
+8 more
GBenign/Likely benign
GATA6
(A284G)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+3 more
GBenign/Likely benign
GATA4
(S377G +3 more)
Single nucleotide variant
(missense variant)
Neonatal insulin-dependent diabetes mellitus
+4 more
GConflicting classifications of pathogenicity
INS, INS-IGF2
Single nucleotide variant
(intron variant)
Neonatal diabetes mellitus
+7 more
GBenign/Likely benign
KCNJ11
(Y330C +1 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+2 more
GPathogenic/Likely pathogenic
KCNJ11
(V59M)
Single nucleotide variant
(missense variant +1 more)
Transitory neonatal diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
KCNJ11
(R201H +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, permanent neonatal 2
+4 more
GConflicting classifications of pathogenicity
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