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Items: 1 to 100 of 1073

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC146, CCDC201
+4735 more
Copy number loss
See cases
GPathogenic
LOC129389795, LOC129389796
+636 more
Copy number gain
See cases
GPathogenic
ABCA13, ADCY1
+380 more
Copy number loss
See cases
GPathogenic
AEBP1, AMPH
+288 more
Copy number loss
See cases
GPathogenic
AEBP1, BLVRA
+231 more
Copy number loss
See cases
GPathogenic
SNORA5A, SNORA5B
+212 more
Copy number loss
See cases
GPathogenic
ABCA13, ADCY1
+317 more
Copy number loss
See cases
GPathogenic
LOC126860033, LOC126860034
+426 more
Copy number loss
See cases
GPathogenic
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Transient Neonatal Diabetes, Recessive
+4 more
GBenign/Likely benign
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Transient Neonatal Diabetes, Recessive
+5 more
GBenign
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GConflicting classifications of pathogenicity
GCK
Deletion
(3 prime UTR variant +1 more)
Hyperinsulinism, Dominant
+4 more
GBenign
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 2
+4 more
GBenign/Likely benign
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Transient Neonatal Diabetes, Recessive
+4 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GConflicting classifications of pathogenicity
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 2
+4 more
GBenign/Likely benign
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Transient Neonatal Diabetes, Recessive
+5 more
GBenign
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 2
+4 more
GBenign/Likely benign
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Permanent neonatal diabetes mellitus
+3 more
GBenign
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 2
+4 more
GBenign/Likely benign
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Maturity onset diabetes mellitus in young
+4 more
GConflicting classifications of pathogenicity
GCK
(S116fs +4 more)
Indel
(frameshift variant +1 more)
Monogenic diabetes
GLikely pathogenic
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Transient Neonatal Diabetes, Recessive
+5 more
GBenign/Likely benign
GCK
Single nucleotide variant
(3 prime UTR variant +1 more)
Transient Neonatal Diabetes, Recessive
+5 more
GConflicting classifications of pathogenicity
GCK
(A123fs +4 more)
Deletion
(frameshift variant +1 more)
Monogenic diabetes
GLikely pathogenic
GCK
Single nucleotide variant
(stop lost +1 more)
Monogenic diabetes
GPathogenic
GCK
Single nucleotide variant
(stop lost +1 more)
Monogenic diabetes
GLikely pathogenic
GCK
Single nucleotide variant
(stop lost +1 more)
Monogenic diabetes
GLikely pathogenic
GCK
(G127fs +4 more)
Deletion
(frameshift variant +1 more)
Monogenic diabetes
GLikely pathogenic
GCK
(G127fs +4 more)
Deletion
(frameshift variant +1 more)
Monogenic diabetes
GLikely pathogenic
GCK
Single nucleotide variant
(synonymous variant +1 more)
Maturity onset diabetes mellitus in young
GLikely benign
GCK
(M462I +4 more)
Single nucleotide variant
(missense variant +1 more)
Monogenic diabetes
GLikely benign
GCK
Deletion
(inframe_deletion +1 more)
Monogenic diabetes
GUncertain significance
GCK
(A123fs +4 more)
Deletion
(frameshift variant +1 more)
Maturity-onset diabetes of the young type 2
GPathogenic
GCK
(K121fs +4 more)
Deletion
(frameshift variant +1 more)
Monogenic diabetes
GPathogenic
GCK
(K136fs +4 more)
Deletion
(frameshift variant +1 more)
Monogenic diabetes
GLikely pathogenic
GCK
(C120fs +4 more)
Deletion
(frameshift variant)
Monogenic diabetes
GLikely pathogenic
GCK
(R446fs +5 more)
Deletion
(frameshift variant)
Monogenic diabetes
GPathogenic
GCK
(V390fs +5 more)
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
GCK
(A456V +5 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GCK
(V118fs +5 more)
Duplication
(frameshift variant)
Monogenic diabetes
GLikely pathogenic
GCK
(V455E +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GCK
Microsatellite
(inframe_insertion)
Hyperinsulinism due to glucokinase deficiency
+1 more
GConflicting classifications of pathogenicity
GCK
(V455M +5 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GCK
(A112fs +5 more)
Deletion
(frameshift variant)
Monogenic diabetes
GPathogenic
GCK
(R107fs +5 more)
Deletion
(frameshift variant)
Maturity-onset diabetes of the young type 2
GLikely pathogenic
GCK
(A117V +5 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
GCK
Deletion
(inframe_deletion)
Maturity onset diabetes mellitus in young
+1 more
GUncertain significance
GCK
(A454E +5 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
GCK
(A117fs +5 more)
Deletion
(frameshift variant)
Monogenic diabetes
GPathogenic
GCK
Single nucleotide variant
(synonymous variant)
Maturity onset diabetes mellitus in young
+1 more
GLikely benign
GCK
(S116* +5 more)
Single nucleotide variant
(nonsense)
Monogenic diabetes
GLikely pathogenic
GCK
(S131W +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GCK
(S453L +5 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
GCK
Indel
(inframe_indel)
Monogenic diabetes
GUncertain significance
GCK
(V115L +5 more)
Single nucleotide variant
(missense variant)
Familial hyperinsulinism
GLikely pathogenic
GCK
(L114fs +5 more)
Deletion
(frameshift variant)
Monogenic diabetes
GLikely pathogenic
GCK
(A450V +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GCK
(A113fs +5 more)
Deletion
(frameshift variant)
Monogenic diabetes
GLikely pathogenic
GCK
(A113S +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GCK
(A112fs +5 more)
Microsatellite
(frameshift variant)
Monogenic diabetes
GLikely pathogenic
GCK
(R110fs +5 more)
Deletion
(frameshift variant)
Monogenic diabetes
GPathogenic
GCK
(A449T +5 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 2
GLikely pathogenic
GCK
(A112fs +5 more)
Deletion
(frameshift variant)
Monogenic diabetes
GPathogenic
GCK
(G111fs +5 more)
Deletion
(frameshift variant)
Monogenic diabetes
GPathogenic
GCK
(R110fs +5 more)
Duplication
(frameshift variant)
Monogenic diabetes
GPathogenic
GCK
(R110P +5 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 2
+1 more
GConflicting classifications of pathogenicity
GCK
(R447Q +5 more)
Single nucleotide variant
(missense variant)
Hyperinsulinism due to glucokinase deficiency
+4 more
GPathogenic/Likely pathogenic
GCK
(R67fs +5 more)
Deletion
(frameshift variant)
Monogenic diabetes
GPathogenic
GCK
(R447G +5 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
+2 more
GPathogenic/Likely pathogenic
GCK
(S445R +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GCK
(S108fs +5 more)
Duplication
(frameshift variant)
Monogenic diabetes
GLikely pathogenic
GCK
(S108fs +5 more)
Deletion
(frameshift variant)
Monogenic diabetes
GLikely pathogenic
GCK
(G107D +5 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
GCK
(E121K +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GCK
(E443* +5 more)
Single nucleotide variant
(nonsense)
Monogenic diabetes
GPathogenic
GCK
(E105fs +5 more)
Duplication
(frameshift variant)
Monogenic diabetes
GPathogenic
GCK
(E105* +5 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GCK
(E442K +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
GCK
(S104* +5 more)
Single nucleotide variant
(nonsense)
Monogenic diabetes
GPathogenic
GCK
(I59fs +5 more)
Deletion
(frameshift variant)
not provided
GPathogenic
GCK
(S104W +5 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GPathogenic
GCK
(S441L +5 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
GCK
(I114fs +5 more)
Deletion
(frameshift variant)
Maturity-onset diabetes of the young type 2
GLikely pathogenic
GCK
(E103G +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCK
(E103* +5 more)
Single nucleotide variant
(nonsense)
Monogenic diabetes
GPathogenic
GCK
Single nucleotide variant
(synonymous variant)
Monogenic diabetes
GLikely benign
GCK
(F101del +5 more)
Deletion
(inframe_deletion)
Monogenic diabetes
GUncertain significance
GCK
(F101Y +5 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GUncertain significance
GCK
(F101V +5 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 2
GLikely pathogenic
GCK
Deletion
(splice acceptor variant)
Maturity onset diabetes mellitus in young
GUncertain significance
GCK
Deletion
(inframe_deletion)
not provided
GUncertain significance
GCK
(T100fs +5 more)
Deletion
(frameshift variant)
Maturity-onset diabetes of the young type 2
GPathogenic
GCK
(T100S +5 more)
Single nucleotide variant
(missense variant)
Maturity onset diabetes mellitus in young
GUncertain significance/Uncertain risk allele
GCK
(T437I +5 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
GLikely pathogenic
GCK
Deletion
(inframe_deletion)
Monogenic diabetes
GLikely pathogenic
GCK
(T100P +5 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance/Uncertain risk allele
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