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Links from MedGen

Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DBT
Single nucleotide variant
(intron variant)
Maple syrup urine disease type 2
GUncertain significance
DBT
(S244* +1 more)
Single nucleotide variant
(nonsense +1 more)
Maple syrup urine disease type 2
GLikely pathogenic
DBT
(S268* +1 more)
Single nucleotide variant
(nonsense +1 more)
Maple syrup urine disease type 2
GLikely pathogenic
DBT
(N219S +1 more)
Single nucleotide variant
(missense variant +1 more)
Maple syrup urine disease type 2
GLikely pathogenic
DBT
(W10*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Maple syrup urine disease type 2
GLikely pathogenic
DBT
(R169*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Maple syrup urine disease type 2
+1 more
GLikely pathogenic
DBT
(S306P)
Single nucleotide variant
(missense variant)
Maple syrup urine disease
GPathogenic
DBT
(T397I)
Single nucleotide variant
(missense variant)
Maple syrup urine disease type 2
GUncertain significance
DBT
(A300fs)
Deletion
(frameshift variant)
Maple syrup urine disease type 2
GPathogenic
DBT
(K46R)
Single nucleotide variant
(missense variant)
Maple syrup urine disease type 2
+1 more
GUncertain significance
DBT
(K313N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
DBT
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
DBT
(E224*)
Single nucleotide variant
(nonsense)
Maple syrup urine disease
+2 more
GPathogenic
DBT
(S194*)
Single nucleotide variant
(nonsense)
Maple syrup urine disease type 2
GPathogenic
DBT
(H452R)
Single nucleotide variant
(missense variant)
Maple syrup urine disease type 2
GPathogenic
DBT
Deletion
Maple syrup urine disease type 2
GPathogenic
DBT
(C26fs)
Deletion
(frameshift variant)
Maple syrup urine disease type 2
+1 more
GPathogenic/Likely pathogenic
DBT
Single nucleotide variant
(no sequence alteration)
Maple syrup urine disease
GBenign
DBT
(I98M)
Single nucleotide variant
(missense variant)
Maple syrup urine disease type 2
GPathogenic
DBT
Single nucleotide variant
(stop lost)
Maple syrup urine disease type 2
GPathogenic
DBT
Single nucleotide variant
(intron variant)
DBT-related disorder
+1 more
GConflicting classifications of pathogenicity
DBT
Deletion
(splice donor variant)
Maple syrup urine disease type 2
GPathogenic
DBT
Insertion
Maple syrup urine disease type 2
GPathogenic
DBT
(F276C)
Single nucleotide variant
(missense variant)
See cases
+2 more
GPathogenic/Likely pathogenic
DBT
Deletion
Maple syrup urine disease type 2
GPathogenic
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