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Links from MedGen

Items: 1 to 100 of 246

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC8
(G315R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+5 more
GConflicting classifications of pathogenicity
ABCC8
(V1363F +3 more)
Single nucleotide variant
(missense variant +1 more)
Transitory neonatal diabetes mellitus
+6 more
GConflicting classifications of pathogenicity
ABCC8
(G70R)
Single nucleotide variant
(missense variant +1 more)
ABCC8-related disorder
+6 more
GConflicting classifications of pathogenicity
ABCC8
(R305S +1 more)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, transient neonatal, 2
+5 more
GUncertain significance
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Diabetes mellitus, transient neonatal, 2
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Diabetes mellitus, transient neonatal, 2
+5 more
GLikely benign
ABCC8, LOC110121471
Single nucleotide variant
(intron variant)
Diabetes mellitus, transient neonatal, 2
+5 more
GBenign
ABCC8, LOC110121471
Single nucleotide variant
(synonymous variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+5 more
GLikely benign
ABCC8
(P658L)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, transient neonatal, 2
+6 more
GBenign/Likely benign
ABCC8
Single nucleotide variant
(intron variant)
Diabetes mellitus, transient neonatal, 2
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Diabetes mellitus, transient neonatal, 2
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
ABCC8-related disorder
+7 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GLikely benign
ABCC8
(H1096R +3 more)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, transient neonatal, 2
GUncertain significance
ABCC8
(P589L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
ABCC8
(Y15*)
Single nucleotide variant
(nonsense +1 more)
Leucine-induced hypoglycemia
+6 more
GPathogenic/Likely pathogenic
ABCC8
(A976T +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+5 more
GConflicting classifications of pathogenicity
ABCC8
(R1014P +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+7 more
GUncertain significance
ABCC8
(A113V)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+5 more
GConflicting classifications of pathogenicity
ABCC8
(D324N +1 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+6 more
GUncertain significance
ABCC8
(R647C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GUncertain significance
ABCC8
(I1422V +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+5 more
GUncertain significance
ABCC8
(R932Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+6 more
GUncertain significance
ABCC8
(G657V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GUncertain significance
ABCC8
(Y124F)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, transient neonatal, 2
+5 more
GUncertain significance
ABCC8
(N396H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
ABCC8
(L510V +1 more)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, transient neonatal, 2
+5 more
GUncertain significance
ABCC8
(A269D)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GUncertain significance
ABCC8
(S1447G +3 more)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+5 more
GUncertain significance
ABCC8
(A1219T +3 more)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+5 more
GUncertain significance
ABCC8
(V1154I +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
ABCC8
(V1024I +3 more)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, transient neonatal, 2
+6 more
GUncertain significance
ABCC8, LOC110121471
Single nucleotide variant
(intron variant)
Diabetes mellitus, transient neonatal, 2
+5 more
GBenign/Likely benign
ABCC8
(Q631fs +1 more)
Deletion
(frameshift variant +1 more)
Diabetes mellitus, transient neonatal, 2
+4 more
GPathogenic
ABCC8
Single nucleotide variant
(intron variant)
not provided
+6 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(intron variant)
not provided
+6 more
GConflicting classifications of pathogenicity
ABCC8, LOC110121471
Single nucleotide variant
(intron variant)
not provided
+6 more
GConflicting classifications of pathogenicity
ABCC8, LOC110121471
Single nucleotide variant
(intron variant)
not provided
+6 more
GConflicting classifications of pathogenicity
ABCC8, LOC110121471
Single nucleotide variant
(intron variant)
not provided
+6 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(intron variant)
Diabetes mellitus, permanent neonatal 3
+4 more
GBenign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Diabetes mellitus, transient neonatal, 2
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Diabetes mellitus, transient neonatal, 2
+5 more
GLikely benign
ABCC8, LOC110121471
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(intron variant)
Diabetes mellitus, permanent neonatal 3
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Diabetes mellitus, permanent neonatal 3
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Diabetes mellitus, transient neonatal, 2
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Diabetes mellitus, transient neonatal, 2
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Diabetes mellitus, transient neonatal, 2
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Diabetes mellitus, transient neonatal, 2
+5 more
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Diabetes mellitus, transient neonatal, 2
+6 more
GLikely benign
ABCC8, LOC110121471
Single nucleotide variant
(synonymous variant +1 more)
Diabetes mellitus, transient neonatal, 2
+5 more
GLikely benign
ABCC8
(I549fs +1 more)
Deletion
(frameshift variant +1 more)
Diabetes mellitus, permanent neonatal 3
+5 more
GPathogenic/Likely pathogenic
ABCC8
(Q443H +1 more)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 3
+5 more
GPathogenic/Likely pathogenic
ABCC8
(P2T)
Single nucleotide variant
(missense variant +1 more)
ABCC8-related disorder
+5 more
GUncertain significance
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Transitory neonatal diabetes mellitus
+7 more
GConflicting classifications of pathogenicity
ABCC8
(W231S)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+4 more
GUncertain significance
ABCC8
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+6 more
GUncertain significance
ABCC8
(G341R +1 more)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+4 more
GUncertain significance
ABCC8
(A470V +1 more)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+4 more
GUncertain significance
ABCC8
(R485Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+5 more
GUncertain significance
ABCC8
(L555F +1 more)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+6 more
GUncertain significance
ABCC8
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+7 more
GUncertain significance
ABCC8
(R917K +3 more)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+6 more
GUncertain significance
ABCC8
(R956G +3 more)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+6 more
GUncertain significance
ABCC8
(E1002K +3 more)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+7 more
GUncertain significance
ABCC8
(V1164M +3 more)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+4 more
GUncertain significance
ABCC8
(R1216G +3 more)
Single nucleotide variant
(missense variant +1 more)
Transitory neonatal diabetes mellitus
+6 more
GUncertain significance
ABCC8
Single nucleotide variant
(non-coding transcript variant +1 more)
Transitory neonatal diabetes mellitus
+7 more
GConflicting classifications of pathogenicity
ABCC8
(V1428I +3 more)
Single nucleotide variant
(missense variant +1 more)
Transitory neonatal diabetes mellitus
+6 more
GUncertain significance
ABCC8
(T1380fs +3 more)
Indel
(frameshift variant +1 more)
Type 2 diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
ABCC8
(G25V)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GUncertain significance
ABCC8
(Y263D)
Single nucleotide variant
(missense variant +1 more)
Permanent neonatal diabetes mellitus
+5 more
GUncertain significance
ABCC8
(H661Y)
Single nucleotide variant
(intron variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+5 more
GConflicting classifications of pathogenicity
ABCC8
(W738C +2 more)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+7 more
GUncertain significance
ABCC8
(Y1294D +3 more)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+4 more
GUncertain significance
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Maturity onset diabetes mellitus in young
+5 more
GConflicting classifications of pathogenicity
ABCC8
(L1328I +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+2 more
GUncertain significance
ABCC8
Single nucleotide variant
(intron variant)
Transitory neonatal diabetes mellitus
+4 more
GUncertain significance
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Maturity onset diabetes mellitus in young
+5 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Maturity onset diabetes mellitus in young
+5 more
GConflicting classifications of pathogenicity
ABCC8
(I1455V +3 more)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GUncertain significance
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Permanent neonatal diabetes mellitus
+5 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(intron variant)
not provided
+5 more
GConflicting classifications of pathogenicity
ABCC8
(I196N)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GUncertain significance
ABCC8
(P207L)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GUncertain significance
ABCC8
Single nucleotide variant
(intron variant)
Maturity onset diabetes mellitus in young
+6 more
GConflicting classifications of pathogenicity
ABCC8
(T548M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(intron variant)
ABCC8-related disorder
+4 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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