U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 70

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCKDHB
(L12fs)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
BCKDHB
Single nucleotide variant
(synonymous variant +2 more)
Maple syrup urine disease
+1 more
GConflicting classifications of pathogenicity
BCKDHB
(A32fs)
Microsatellite
(frameshift variant +2 more)
Maple syrup urine disease type 1B
+2 more
GPathogenic
BCKDHB
(H53P)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
BCKDHB
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
BCKDHB
Single nucleotide variant
(intron variant)
not specified
GBenign
BCKDHB
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
BCKDHB
Single nucleotide variant
(intron variant)
Maple syrup urine disease
+1 more
GBenign
BCKDHB
(T90I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
BCKDHB
(D97V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
BCKDHB
(G101D +1 more)
Single nucleotide variant
(missense variant +1 more)
Maple syrup urine disease
+1 more
GConflicting classifications of pathogenicity
BCKDHB
(R111G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
BCKDHB
(Y114* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BCKDHB
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
BCKDHB
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
BCKDHB
(T122I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
BCKDHB
(P123L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
BCKDHB
(G135R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
BCKDHB
(I160S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
BCKDHB
(E163V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
BCKDHB
(A165P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
BCKDHB
(K166N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
BCKDHB
(R168C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
BCKDHB
(Y169C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
BCKDHB
(R170C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
BCKDHB
(R170G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
BCKDHB
(R170S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
BCKDHB
(R170P +1 more)
Single nucleotide variant
(missense variant +1 more)
Maple syrup urine disease
+2 more
GConflicting classifications of pathogenicity
BCKDHB
(R170H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
BCKDHB
(N176Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BCKDHB
(C177R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
BCKDHB
(R183W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BCKDHB
(R183P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
BCKDHB
(G192R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
BCKDHB
(H196L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
BCKDHB
(Q128fs +1 more)
Deletion
(frameshift variant +1 more)
Maple syrup urine disease
+1 more
GPathogenic
BCKDHB
Microsatellite
(frameshift variant +1 more)
Maple syrup urine disease
+2 more
GPathogenic
BCKDHB
(A202V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
BCKDHB
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
BCKDHB
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
BCKDHB
Single nucleotide variant
(intron variant)
not specified
GLikely benign
BCKDHB
(L225P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
BCKDHB
(L243F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GUncertain significance
BCKDHB
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
BCKDHB
(E250* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
BCKDHB
(V251A +1 more)
Single nucleotide variant
(missense variant +1 more)
Maple syrup urine disease type 1B
+2 more
GPathogenic/Likely pathogenic
BCKDHB
(Q267* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BCKDHB
(T273P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
BCKDHB
(G278S +1 more)
Single nucleotide variant
(missense variant +1 more)
Maple syrup urine disease type 1B
+2 more
GPathogenic/Likely pathogenic
BCKDHB
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
BCKDHB
Single nucleotide variant
(intron variant)
not specified
GLikely benign
BCKDHB
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
BCKDHB
(H282R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
BCKDHB
(R285* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
BCKDHB
(V301G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
BCKDHB
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
BCKDHB
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
BCKDHB
(R324* +1 more)
Single nucleotide variant
(nonsense +1 more)
Maple syrup urine disease type 1B
+2 more
GPathogenic/Likely pathogenic
BCKDHB
(L325R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
BCKDHB
(G336S +1 more)
Single nucleotide variant
(missense variant +1 more)
Maple syrup urine disease type 1B
+2 more
GPathogenic/Likely pathogenic
BCKDHB
(S339L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BCKDHB
(C349Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
BCKDHB
(L353V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
BCKDHB
(A355P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
BCKDHB
(R359S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
BCKDHB
(Y363N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
BCKDHB
(E372* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BCKDHB
(C382R +1 more)
Single nucleotide variant
(missense variant +1 more)
Maple syrup urine disease
+1 more
GConflicting classifications of pathogenicity
BCKDHB
(Y383D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
BCKDHB
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination