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Items: 1 to 100 of 739

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ACP7, ACTMAP
+514 more
Copy number gain
See cases
GPathogenic
BCKDHA
Single nucleotide variant
not provided
GBenign
BCKDHA
Deletion
not provided
GBenign
BCKDHA
Deletion
not provided
GBenign
BCKDHA
Single nucleotide variant
not provided
GLikely benign
BCKDHA
Single nucleotide variant
not provided
GBenign
BCKDHA
Single nucleotide variant
not provided
GBenign
BCKDHA
Single nucleotide variant
Maple syrup urine disease
+1 more
GBenign/Likely benign
BCKDHA
Single nucleotide variant
not specified
GBenign
BCKDHA
Single nucleotide variant
not specified
+1 more
GConflicting classifications of pathogenicity
BCKDHA
Single nucleotide variant
not specified
GLikely benign
BCKDHA
(I5fs)
Insertion
(frameshift variant +1 more)
Maple syrup urine disease
GPathogenic
BCKDHA
(M1I)
Single nucleotide variant
(missense variant +1 more)
Maple syrup urine disease
GLikely pathogenic
BCKDHA
Single nucleotide variant
(synonymous 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
BCKDHA
(I5T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BCKDHA
(I5fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
BCKDHA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
BCKDHA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
BCKDHA
(A8P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHA
(V10F)
Single nucleotide variant
(missense variant)
Maple syrup urine disease
GUncertain significance
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHA
(W11*)
Single nucleotide variant
(nonsense)
Maple syrup urine disease
GLikely pathogenic
BCKDHA
(W11*)
Single nucleotide variant
(nonsense)
Maple syrup urine disease
GPathogenic
BCKDHA
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
BCKDHA
(R12Q)
Single nucleotide variant
(missense variant)
Maple syrup urine disease
GUncertain significance
BCKDHA
(R12P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
BCKDHA
(N14fs)
Deletion
(frameshift variant)
Maple syrup urine disease
GPathogenic
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHA
(R15C)
Single nucleotide variant
(missense variant)
Maple syrup urine disease
GUncertain significance
BCKDHA
(G16D)
Single nucleotide variant
(missense variant)
Maple syrup urine disease
GUncertain significance
BCKDHA
(Q19*)
Single nucleotide variant
(nonsense)
Maple syrup urine disease
GPathogenic
BCKDHA
(A20V)
Single nucleotide variant
(missense variant)
Maple syrup urine disease
GUncertain significance
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHA
(A21V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BCKDHA
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
BCKDHA
Single nucleotide variant
(synonymous variant)
BCKDHA-related condition
+2 more
GConflicting classifications of pathogenicity
BCKDHA
(L22fs)
Deletion
(frameshift variant)
Maple syrup urine disease
GLikely pathogenic
BCKDHA
(L23fs)
Deletion
(frameshift variant)
Maple syrup urine disease
GPathogenic
BCKDHA
Single nucleotide variant
(synonymous 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
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHA
(Q27fs)
Deletion
(frameshift variant)
Maple syrup urine disease
GPathogenic
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GUncertain significance
BCKDHA
Single nucleotide variant
(intron 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
GConflicting classifications of pathogenicity
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
BCKDHA
Single nucleotide variant
(intron variant)
not provided
GBenign
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
GUncertain significance
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
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
BCKDHA
Single nucleotide variant
(intron variant)
Maple syrup urine disease
GLikely benign
BCKDHA
Single nucleotide variant
(splice acceptor variant)
Maple syrup urine disease
GPathogenic
BCKDHA
Deletion
Maple syrup urine disease
GUncertain significance
BCKDHA
(R40fs)
Duplication
(frameshift variant)
Maple syrup urine disease
GPathogenic/Likely pathogenic
BCKDHA
(R40fs)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHA
(R40fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
BCKDHA
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
BCKDHA
Single nucleotide variant
(synonymous variant)
BCKDHA-related condition
+4 more
GBenign/Likely benign
BCKDHA
(P39S)
Single nucleotide variant
(missense variant)
Maple syrup urine disease
GLikely benign
BCKDHA
(P39R)
Single nucleotide variant
(missense variant)
Maple syrup urine disease
GLikely benign
BCKDHA
(P39H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely 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
BCKDHA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
BCKDHA
Microsatellite
(inframe_insertion)
Maple syrup urine disease
GUncertain significance
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHA
(Q42R)
Single nucleotide variant
(missense variant)
Maple syrup urine disease
GConflicting classifications of pathogenicity
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHA
(Q43*)
Single nucleotide variant
(nonsense)
Maple syrup urine disease
GPathogenic/Likely pathogenic
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHA
(Q44*)
Single nucleotide variant
(nonsense)
Maple syrup urine disease
GPathogenic
BCKDHA
(S46fs)
Deletion
(frameshift variant)
Maple syrup urine disease
GLikely pathogenic
BCKDHA
(F45L)
Single nucleotide variant
(missense variant)
Maple syrup urine disease
GUncertain significance
BCKDHA
(S46*)
Single nucleotide variant
(nonsense)
Maple syrup urine disease
GPathogenic/Likely pathogenic
BCKDHA
Single nucleotide variant
(synonymous variant)
Maple syrup urine disease
GLikely benign
BCKDHA
(L48fs)
Deletion
(frameshift variant)
Maple syrup urine disease
GPathogenic
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