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Links from MedGen

Items: 1 to 100 of 2038

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
DBT
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
DBT
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
DBT
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHB
Deletion
(intron variant)
Maple syrup urine disease
GBenign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Duplication
(intron variant)
Maple syrup urine disease
GBenign
DBT
Single nucleotide variant
(synonymous variant +1 more)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
DBT
Single nucleotide variant
(synonymous variant +1 more)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
DBT
(A262fs +1 more)
Deletion
(frameshift variant +1 more)
Maple syrup urine disease
GPathogenic
BCKDHB
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
DBT
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
DBT
Single nucleotide variant
(synonymous variant +1 more)
Maple syrup urine disease
GLikely benign
BCKDHB
(D311V +1 more)
Single nucleotide variant
(missense variant +1 more)
Maple syrup urine disease
GPathogenic
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +1 more)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
DBT
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
DBT
Single nucleotide variant
(5 prime UTR variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(non-coding transcript variant +1 more)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +1 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(splice acceptor variant)
Maple syrup urine disease
GLikely pathogenic
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(non-coding transcript variant +1 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +3 more)
Maple syrup urine disease
GLikely benign
DBT
Single nucleotide variant
(5 prime UTR variant +2 more)
Maple syrup urine disease
GLikely benign
DBT
Single nucleotide variant
(5 prime UTR variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
DBT
Single nucleotide variant
(5 prime UTR variant +2 more)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHB
(L26fs)
Deletion
(frameshift variant +3 more)
Maple syrup urine disease
GPathogenic
DBT
Duplication
(intron variant)
Maple syrup urine disease
GLikely benign
DBT
Single nucleotide variant
(synonymous variant +1 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
DBT
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
(Q19*)
Single nucleotide variant
(nonsense)
Maple syrup urine disease
GPathogenic
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
DBT
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +3 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(3 prime UTR variant +1 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Microsatellite
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +3 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
(E238K)
Single nucleotide variant
(missense variant)
Maple syrup urine disease
GLikely pathogenic
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
DBT
Deletion
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHB
Duplication
(intron variant)
Maple syrup urine disease
GLikely benign
DBT
Single nucleotide variant
(5 prime UTR variant +2 more)
Maple syrup urine disease
GUncertain significance
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
DBT
Microsatellite
(intron variant)
Maple syrup urine disease
GLikely benign
DBT
(L305F +1 more)
Single nucleotide variant
(missense variant +1 more)
Maple syrup urine disease
GUncertain significance
DBT
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHB
Insertion
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +1 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +1 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(synonymous variant +1 more)
Maple syrup urine disease
GLikely benign
BCKDHB
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHB
(M216T)
Single nucleotide variant
(missense variant +1 more)
Maple syrup urine disease
GLikely benign
DBT
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHB
(L155V +1 more)
Single nucleotide variant
(missense variant +1 more)
Maple syrup urine disease
GUncertain significance
BCKDHA
(D302N +1 more)
Single nucleotide variant
(missense variant)
Maple syrup urine disease
GLikely pathogenic
BCKDHB
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
DBT
(I232T +1 more)
Single nucleotide variant
(missense variant +1 more)
Maple syrup urine disease
GLikely pathogenic
DBT
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
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