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Items: 1 to 100 of 2424

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A-GAMMA3'E, ABCC8
+917 more
Copy number gain
See cases
GPathogenic
ABCC8, KCNJ11
Single nucleotide variant
(synonymous variant +1 more)
Transient Neonatal Diabetes, Dominant
+9 more
GConflicting classifications of pathogenicity
ABCC8, KCNJ11
(K23E)
Single nucleotide variant
(missense variant +2 more)
Maturity onset diabetes mellitus in young
+9 more
GBenign/Likely benign
ABCC8, KCNJ11
Single nucleotide variant
(intron variant +1 more)
Maturity-onset diabetes of the young type 13
+6 more
GConflicting classifications of pathogenicity
ABCC8, KCNJ11
Single nucleotide variant
(5 prime UTR variant +1 more)
Hyperinsulinism, Dominant/Recessive
+7 more
GConflicting classifications of pathogenicity
ABCC8, KCNJ11
Single nucleotide variant
(5 prime UTR variant +1 more)
Transient Neonatal Diabetes, Dominant
+7 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(3 prime UTR variant +1 more)
Hyperinsulinism, Dominant/Recessive
+4 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GUncertain significance
ABCC8
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ABCC8
(R1600P +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABCC8
(R1578H +3 more)
Single nucleotide variant
(missense variant +1 more)
Transitory neonatal diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
ABCC8
(V1576I +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KCNJ11, ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Hyperinsulinism, Dominant/Recessive
+8 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
(A1596T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8, KCNJ11
(V1572I +3 more)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, permanent neonatal 3
+10 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Maturity onset diabetes mellitus in young
+2 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
(R1567Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Transitory neonatal diabetes mellitus
+2 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
(K1564E +3 more)
Single nucleotide variant
(missense variant +1 more)
Permanent neonatal diabetes mellitus
+3 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
(P1562fs +3 more)
Deletion
(frameshift variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+2 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Diabetes mellitus, permanent neonatal 3
+6 more
GLikely benign
ABCC8
(E1557D +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
(G1554V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
ABCC8
(G1553D +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
(R1552W +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Transitory neonatal diabetes mellitus
+2 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
(V1549D +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
ABCC8
(L1543P +3 more)
Single nucleotide variant
(missense variant +1 more)
ABCC8-related condition
+6 more
GPathogenic/Likely pathogenic
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
(V1539M +3 more)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+3 more
GUncertain significance
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
(R1538Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ABCC8
(R1537G +3 more)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+1 more
GUncertain significance
ABCC8
(R1538* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ABCC8
(H1536R +3 more)
Single nucleotide variant
(missense variant +1 more)
Neonatal diabetes mellitus
GLikely pathogenic
ABCC8
Microsatellite
(intron variant)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCC8
Deletion
(intron variant)
not provided
GBenign
ABCC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(intron variant)
Diabetes mellitus, permanent neonatal 3
+6 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCC8
Deletion
(intron variant)
not provided
GBenign
ABCC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCC8
Single nucleotide variant
(intron variant)
Diabetes mellitus, permanent neonatal 3
+4 more
GBenign
ABCC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCC8
Deletion
(intron variant)
not provided
GBenign
ABCC8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Type 2 diabetes mellitus
+2 more
GConflicting classifications of pathogenicity
ABCC8
(A1536V +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
+1 more
GUncertain significance
ABCC8
(A1536T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABCC8
(A1537P +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
Transitory neonatal diabetes mellitus
+5 more
GConflicting classifications of pathogenicity
ABCC8
(T1556N +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
(T1530A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCC8
(T1531P +3 more)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, transient neonatal, 2
+3 more
GConflicting classifications of pathogenicity
ABCC8
(R1529H +3 more)
Single nucleotide variant
(missense variant +1 more)
ABCC8-related condition
GUncertain significance
ABCC8
(R1529fs +3 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
ABCC8
(R1530C +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCC8
(A1525G +3 more)
Single nucleotide variant
(missense variant +1 more)
ABCC8-related condition
GUncertain significance
ABCC8
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ABCC8
(V1522M +3 more)
Single nucleotide variant
(missense variant +1 more)
Neonatal diabetes mellitus
GLikely pathogenic
ABCC8
(K1521N +3 more)
Single nucleotide variant
(missense variant +1 more)
Hyperinsulinemic hypoglycemia, familial, 1
GUncertain significance
ABCC8
(K1543N +3 more)
Single nucleotide variant
(missense variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GConflicting classifications of pathogenicity
ABCC8
(L1518F +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABCC8
(I1518S +3 more)
Single nucleotide variant
(missense variant +1 more)
Neonatal diabetes mellitus
+2 more
GConflicting classifications of pathogenicity
ABCC8
(E1515G +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
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