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Items: 1 to 100 of 172

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064390, LOC130064391
+2135 more
Copy number gain
See cases
GPathogenic
ACP7, ACTMAP
+514 more
Copy number gain
See cases
GPathogenic
AKT2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
AKT2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
AKT2
Single nucleotide variant
(3 prime UTR variant)
not specified
GBenign
AKT2
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
(R405W +2 more)
Single nucleotide variant
(missense variant)
Hypoinsulinemic hypoglycemia and body hemihypertrophy
+2 more
GConflicting classifications of pathogenicity
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+2 more
GLikely benign
AKT2
Single nucleotide variant
(intron variant)
AKT2-related condition
GLikely benign
AKT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+2 more
GBenign/Likely benign
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
(R412C +2 more)
Single nucleotide variant
(missense variant)
Hypoinsulinemic hypoglycemia and body hemihypertrophy
+1 more
GUncertain significance
AKT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AKT2
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+1 more
GBenign
AKT2
(T369M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AKT2
(Q367R +2 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+1 more
GUncertain significance
AKT2
Single nucleotide variant
(synonymous variant)
AKT2-related condition
GLikely benign
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
(D416N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AKT2
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
(G353R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+1 more
GBenign
AKT2
Single nucleotide variant
(intron variant)
not provided
GBenign
AKT2
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
(L373V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AKT2
(T329M +2 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+2 more
GUncertain significance
AKT2
(R371H +2 more)
Single nucleotide variant
(missense variant)
Hypoinsulinemic hypoglycemia and body hemihypertrophy
+1 more
GUncertain significance
AKT2
Single nucleotide variant
(synonymous variant)
Hypoinsulinemic hypoglycemia and body hemihypertrophy
+1 more
GLikely benign
AKT2
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+2 more
GBenign/Likely benign
AKT2
(M302V +2 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+1 more
GUncertain significance
AKT2
(R357C +2 more)
Single nucleotide variant
(missense variant)
Hypoinsulinemic hypoglycemia and body hemihypertrophy
+1 more
GUncertain significance
AKT2
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
(Y289C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AKT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AKT2
(R285H +2 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+1 more
GUncertain significance
AKT2
(R285C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
AKT2
(G284S +2 more)
Single nucleotide variant
(missense variant)
Hypoinsulinemic hypoglycemia and body hemihypertrophy
+1 more
GUncertain significance
AKT2
(M344I +2 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+1 more
GUncertain significance
AKT2
Single nucleotide variant
(synonymous variant)
Hypoinsulinemic hypoglycemia and body hemihypertrophy
+1 more
GLikely benign
AKT2
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
Single nucleotide variant
(synonymous variant)
not specified
GUncertain significance
AKT2
Duplication
(splice acceptor variant)
Hypoinsulinemic hypoglycemia and body hemihypertrophy
+1 more
GUncertain significance
AKT2
Single nucleotide variant
(intron variant)
Hypoinsulinemic hypoglycemia and body hemihypertrophy
+1 more
GLikely benign
AKT2
Single nucleotide variant
(intron variant)
not provided
GBenign
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+2 more
GUncertain significance
AKT2
Single nucleotide variant
(intron variant)
Hypoinsulinemic hypoglycemia and body hemihypertrophy
+4 more
GBenign/Likely benign
AKT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
AKT2
Single nucleotide variant
(synonymous variant +1 more)
Hypoinsulinemic hypoglycemia and body hemihypertrophy
+3 more
GConflicting classifications of pathogenicity
AKT2
(S302G +1 more)
Single nucleotide variant
(missense variant +1 more)
Neoplasm of the large intestine
GLikely pathogenic
AKT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
Single nucleotide variant
(intron variant)
not provided
GBenign
AKT2
Single nucleotide variant
(intron variant)
not provided
GBenign
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+1 more
GBenign
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
AKT2
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
(R274H +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
AKT2
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
(R191W +1 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+1 more
GUncertain significance
AKT2
Single nucleotide variant
(synonymous variant)
not specified
GUncertain significance
AKT2
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+1 more
GUncertain significance
AKT2
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+1 more
GBenign
AKT2
Duplication
(intron variant)
not provided
GBenign
AKT2
Single nucleotide variant
(intron variant)
not provided
GBenign
AKT2
Single nucleotide variant
(intron variant)
not provided
GBenign
AKT2
Insertion
(intron variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+2 more
GLikely benign
AKT2
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
AKT2
(G173V +1 more)
Single nucleotide variant
(missense variant)
Hypoinsulinemic hypoglycemia and body hemihypertrophy
GUncertain significance
AKT2
Single nucleotide variant
(synonymous variant)
AKT2-related condition
+2 more
GLikely benign
AKT2
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+1 more
GBenign
AKT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AKT2
(A214V +1 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+2 more
GUncertain significance
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
Single nucleotide variant
(intron variant)
Hypoinsulinemic hypoglycemia and body hemihypertrophy
+1 more
GLikely benign
AKT2
(R146K +1 more)
Single nucleotide variant
(missense variant)
Hypoinsulinemic hypoglycemia and body hemihypertrophy
+2 more
GConflicting classifications of pathogenicity
AKT2
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+2 more
GLikely benign
AKT2
Single nucleotide variant
(synonymous variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
(D130E +1 more)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
+1 more
GUncertain significance
AKT2
(D130G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
Single nucleotide variant
(intron variant)
Type 2 diabetes mellitus
+1 more
GLikely benign
AKT2
Single nucleotide variant
(intron variant)
not provided
GBenign
AKT2
Single nucleotide variant
(intron variant)
not provided
GBenign
AKT2
Single nucleotide variant
(intron variant)
not provided
GBenign
AKT2
Single nucleotide variant
(intron variant)
Hypoinsulinemic hypoglycemia and body hemihypertrophy
+2 more
GBenign
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