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Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DBT
Single nucleotide variant
(stop lost)
not provided
GLikely pathogenic
DBT
(M477R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DBT
(N473S)
Single nucleotide variant
(missense variant)
DBT-related condition
+2 more
GConflicting classifications of pathogenicity
DBT
(A450T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DBT
(R431*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
DBT
Deletion
(intron variant)
not provided
GUncertain significance
DBT
Deletion
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
DBT
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
DBT
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
DBT
(I420V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DBT
Deletion
(intron variant)
not specified
+2 more
GBenign
DBT
Duplication
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DBT
Deletion
(intron variant)
not specified
+1 more
GBenign
DBT
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
DBT
Deletion
(intron variant)
Maple syrup urine disease type 1A
+3 more
GBenign
DBT
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
DBT
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
DBT
(Q378R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DBT
(Q378P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DBT
(R376H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DBT
(S366P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DBT
(H342Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DBT
(H342D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DBT
(K313N)
Single nucleotide variant
(missense variant)
Maple syrup urine disease type 2
+2 more
GPathogenic/Likely pathogenic
DBT
(S306C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DBT
(R301C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DBT
(R291*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
DBT
(F276C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
DBT
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
DBT
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DBT
(S242P)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
DBT
(I239V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
DBT
(E224*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
DBT
(G193S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DBT
Deletion
(intron variant)
DBT-related condition
+2 more
GPathogenic
DBT
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
DBT
(Y122C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DBT
(K120fs)
Deletion
(frameshift variant)
not provided
GPathogenic
DBT
(Y114fs)
Deletion
(frameshift variant)
not provided
GPathogenic
DBT
(T91fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
DBT
Duplication
(intron variant)
not specified
+2 more
GBenign/Likely benign
DBT
(W84*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DBT
(S70L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DBT
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
DBT
(K46R)
Single nucleotide variant
(missense variant)
Maple syrup urine disease type 2
+1 more
GUncertain significance
DBT
(Y42*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
DBT
(C26R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
DBT
(R21C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DBT
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DBT
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DBT
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DBT
(A2V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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