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Links from MedGen

Items: 1 to 100 of 561

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFAP61, CRNKL1
+10 more
Complex
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
BANF2, BFSP1
+49 more
Deletion
Hyperinsulinemic hypoglycemia, familial, 1
GPathogenic
CFAP61, CRNKL1
+19 more
Deletion
Hyperinsulinemic hypoglycemia, familial, 1
GPathogenic
CFAP61, CRNKL1
+10 more
Deletion
Hyperinsulinemic hypoglycemia, familial, 1
GPathogenic
CD93, CFAP61
+24 more
Deletion
Hyperinsulinemic hypoglycemia, familial, 1
GPathogenic
ABCC8
(G1432R +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
Single nucleotide variant
(intron variant)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
(V1461fs +3 more)
Duplication
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+2 more
GLikely pathogenic
ABCC8
Single nucleotide variant
(intron variant)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
(H36Y)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
(Q19*)
Single nucleotide variant
(nonsense +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GPathogenic
ABCC8
(V21I)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
(E1441K +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
(H36R)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
Single nucleotide variant
(splice donor variant)
Hyperinsulinemic hypoglycemia, familial, 1
GPathogenic
ABCC8
(D309V +1 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+1 more
GUncertain significance
ABCC8
(T370I +1 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+1 more
GUncertain significance
ABCC8
(A379fs +1 more)
Deletion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GPathogenic
ABCC8
(W429* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(Q1484* +3 more)
Single nucleotide variant
(nonsense +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GPathogenic
ABCC8
(C716* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GPathogenic
ABCC8, LOC110121471
(E784del +3 more)
Microsatellite
(inframe_deletion +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
(I899T +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
(E1016* +3 more)
Single nucleotide variant
(nonsense +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GPathogenic
ABCC8
(L1042fs +3 more)
Insertion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
Single nucleotide variant
(splice acceptor variant)
Type 2 diabetes mellitus
+1 more
GPathogenic
ABCC8
Single nucleotide variant
(intron variant)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
(Q1132R +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
(L1146R +3 more)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+1 more
GLikely pathogenic
ABCC8
(C1148* +3 more)
Single nucleotide variant
(nonsense +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(A1276fs +3 more)
Deletion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GPathogenic
ABCC8
(S1331* +3 more)
Single nucleotide variant
(nonsense +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(P1358L +3 more)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+2 more
GConflicting classifications of pathogenicity
ABCC8
(Q1371* +3 more)
Single nucleotide variant
(nonsense +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GPathogenic
ABCC8
(G1374R +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
(R1419H +3 more)
Single nucleotide variant
(missense variant +1 more)
Type 2 diabetes mellitus
+1 more
GLikely pathogenic
ABCC8
(A1183E +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(V1549D +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
(V1495M +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
ABCC8
(H894L +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
Single nucleotide variant
(intron variant)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
(Y637S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
(T523M +1 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
Single nucleotide variant
(intron variant)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
(A1309S +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
(R701H +2 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
(V141M)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
(L1042fs +3 more)
Indel
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
Deletion
(inframe_deletion +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
(Y230C)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+1 more
GUncertain significance
ABCC8
(G7R)
Single nucleotide variant
(missense variant +1 more)
Familial hyperinsulinism
+3 more
GLikely pathogenic
ABCC8
Single nucleotide variant
(splice donor variant)
Hyperinsulinemic hypoglycemia, familial, 1
+1 more
GPathogenic/Likely pathogenic
ABCC8
(I1510T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
ABCC8
Single nucleotide variant
(splice donor variant)
Type 2 diabetes mellitus
+3 more
GPathogenic/Likely pathogenic
ABCC8
(L721F +2 more)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 3
+1 more
GUncertain significance
ABCC8
(G251fs)
Deletion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(N330fs +1 more)
Indel
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(D1407fs +3 more)
Insertion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(R258fs)
Insertion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(L357* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(G1280fs +3 more)
Deletion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(M233fs)
Deletion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(K648* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(I322fs +1 more)
Deletion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(A1151fs +3 more)
Deletion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(K1224fs +3 more)
Deletion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(L1089fs +3 more)
Deletion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(R619fs +1 more)
Deletion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(P69fs)
Deletion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(Q631fs +1 more)
Indel
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(G1088fs +3 more)
Insertion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(L1293fs +3 more)
Deletion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(Q1306* +3 more)
Single nucleotide variant
(nonsense +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(L1169fs +3 more)
Insertion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8, LOC110121471
(S772* +3 more)
Single nucleotide variant
(nonsense +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(T403fs +1 more)
Deletion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(D690fs +2 more)
Deletion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
Insertion
(nonsense +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(R1244* +3 more)
Single nucleotide variant
(nonsense +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(F236fs)
Deletion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(S346* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(T1319fs +3 more)
Deletion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(Q1306fs +3 more)
Deletion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(G657fs +2 more)
Deletion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(G1117fs +3 more)
Duplication
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(P109fs)
Deletion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(A1389P +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(Q933* +3 more)
Single nucleotide variant
(nonsense +1 more)
Type 2 diabetes mellitus
+2 more
GPathogenic
ABCC8
Single nucleotide variant
(splice donor variant)
Hyperinsulinemic hypoglycemia, familial, 1
GLikely pathogenic
ABCC8
(D1191fs +3 more)
Duplication
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GPathogenic
ABCC8
(W231*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 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
(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
(non-coding transcript variant +1 more)
not provided
+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
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