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Links from MedGen

Items: 1 to 100 of 171

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA3
(E1364K)
Single nucleotide variant
(missense variant)
Familial hyperinsulinism
+1 more
GLikely pathogenic
ABCC8
(G1477R +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial hyperinsulinism
GPathogenic
ABCC8
Deletion
Familial hyperinsulinism
GPathogenic
GCK
(V115L +5 more)
Single nucleotide variant
(missense variant)
Familial hyperinsulinism
GLikely pathogenic
ABCC8
Single nucleotide variant
(splice acceptor variant)
Familial hyperinsulinism
GLikely pathogenic
ABCC8
(G7R)
Single nucleotide variant
(missense variant +1 more)
Familial hyperinsulinism
+3 more
GLikely pathogenic
ABCC8
Single nucleotide variant
(splice donor variant)
Type 2 diabetes mellitus
+3 more
GPathogenic/Likely pathogenic
ABCC8
(G315R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+5 more
GConflicting classifications of pathogenicity
ABCC8
(Q443* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
ABCC8
(R168C)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+2 more
GPathogenic/Likely pathogenic
ABCC8
(A269fs)
Deletion
(frameshift variant +1 more)
Familial hyperinsulinism
+3 more
GPathogenic/Likely pathogenic
ABCC8
(C26S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
ABCC8
(L1429fs +3 more)
Deletion
(frameshift variant +1 more)
Familial hyperinsulinism
GLikely pathogenic
ABCC8
(Y538* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
ABCC8
(R840* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic
ABCC8
Single nucleotide variant
(splice acceptor variant)
ABCC8-related disorder
+3 more
GPathogenic
ABCC8
(S12*)
Single nucleotide variant
(nonsense +1 more)
Familial hyperinsulinism
+1 more
GPathogenic
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 1
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Familial hyperinsulinism
+1 more
GBenign
HNF4A
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
HNF4A
(E210K +3 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+4 more
GUncertain significance/Uncertain risk allele
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 1
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 1
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GBenign/Likely benign
HNF4A
Single nucleotide variant
(synonymous variant)
Familial hyperinsulinism
+1 more
GUncertain significance
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Familial hyperinsulinism
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Familial hyperinsulinism
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Familial hyperinsulinism
+2 more
GBenign/Likely benign
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Familial hyperinsulinism
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Familial hyperinsulinism
+2 more
GBenign/Likely benign
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Familial hyperinsulinism
+2 more
GBenign/Likely benign
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Familial hyperinsulinism
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Familial hyperinsulinism
+2 more
GUncertain significance
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+3 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Familial hyperinsulinism
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Familial hyperinsulinism
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Familial hyperinsulinism
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(synonymous variant)
Familial hyperinsulinism
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Familial hyperinsulinism
+1 more
GUncertain significance
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GBenign/Likely benign
HNF4A
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GUncertain significance
HNF4A
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Familial hyperinsulinism
+2 more
GBenign/Likely benign
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Familial hyperinsulinism
+1 more
GBenign/Likely benign
HNF4A
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF4A
(L19P)
Single nucleotide variant
(missense variant +2 more)
Maturity onset diabetes mellitus in young
+2 more
GUncertain significance/Uncertain risk allele
HNF4A
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ABCC8
(W898* +3 more)
Single nucleotide variant
(nonsense +1 more)
Type 2 diabetes mellitus
+4 more
GPathogenic/Likely pathogenic
ABCC8
(W232*)
Single nucleotide variant
(nonsense +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+3 more
GPathogenic
ABCC8
Single nucleotide variant
(splice donor variant)
Obesity
+4 more
GPathogenic
ABCC8
(R1214Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+6 more
GPathogenic/Likely pathogenic
HNF4A
(R285Q +3 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
ABCC8
(V1351M +3 more)
Single nucleotide variant
(missense variant +1 more)
Transitory neonatal diabetes mellitus
+4 more
GUncertain significance
ABCC8
(P1116A +3 more)
Single nucleotide variant
(missense variant +1 more)
Transitory neonatal diabetes mellitus
+2 more
GConflicting classifications of pathogenicity
ABCC8
(E501K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ABCC8
Single nucleotide variant
(splice donor variant)
Maturity onset diabetes mellitus in young
+4 more
GConflicting classifications of pathogenicity
ABCC8
(R526C +1 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+6 more
GPathogenic/Likely pathogenic
ABCC8
Single nucleotide variant
(splice donor variant)
Hyperinsulinemic hypoglycemia, familial, 1
+2 more
GPathogenic/Likely pathogenic
ABCC8
Single nucleotide variant
(intron variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ABCC8
(V1150fs +3 more)
Microsatellite
(frameshift variant +1 more)
Transitory neonatal diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(synonymous variant)
Familial hyperinsulinism
+4 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+5 more
GBenign/Likely benign
ABCC8
(V21D)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+7 more
GPathogenic/Likely pathogenic
ABCC8
(R74Q)
Single nucleotide variant
(missense variant +1 more)
Familial hyperinsulinism
+6 more
GPathogenic
HNF4A
(S158G +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance/Uncertain risk allele
ABCC8
(F544fs +1 more)
Deletion
(frameshift variant +1 more)
Inborn genetic diseases
+4 more
GPathogenic
KCNJ11
(V290M +1 more)
Single nucleotide variant
(missense variant)
Hyperinsulinemia
+2 more
GConflicting classifications of pathogenicity
ABCC8
(R598* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+7 more
GPathogenic
ABCC8
(M429* +1 more)
Duplication
(nonsense +1 more)
Familial hyperinsulinism
+6 more
GPathogenic
ABCC8
Single nucleotide variant
(splice acceptor variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ABCC8
(R74W)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 3
+6 more
GPathogenic/Likely pathogenic
ABCC8
(Y195*)
Duplication
(nonsense +1 more)
Transitory neonatal diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(splice acceptor variant)
Type 2 diabetes mellitus
+3 more
GPathogenic/Likely pathogenic
ABCC8
Single nucleotide variant
(splice donor variant)
Type 2 diabetes mellitus
+4 more
GConflicting classifications of pathogenicity
ABCC8
(D1192fs +3 more)
Deletion
(frameshift variant +1 more)
Diabetes mellitus, permanent neonatal 3
+6 more
GPathogenic/Likely pathogenic
ABCC8
(R1250* +3 more)
Single nucleotide variant
(nonsense +1 more)
Type 2 diabetes mellitus
+3 more
GPathogenic
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GBenign/Likely benign
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Familial hyperinsulinism
+3 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Familial hyperinsulinism
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GBenign
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
HNF4A
Single nucleotide variant
(3 prime UTR variant)
Maturity onset diabetes mellitus in young
+2 more
GBenign
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