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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABAT
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
ABAT
(Q15H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ABAT
(V37I)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
ABAT
(V37G)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ABAT
Single nucleotide variant
(intron variant)
Gamma-aminobutyric acid transaminase deficiency
+1 more
GConflicting classifications of pathogenicity
ABAT
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
ABAT
(S149L +3 more)
Single nucleotide variant
(missense variant)
Gamma-aminobutyric acid transaminase deficiency
+1 more
GUncertain significance
ABAT
(A162T +3 more)
Single nucleotide variant
(missense variant +1 more)
Gamma-aminobutyric acid transaminase deficiency
+1 more
GUncertain significance
ABAT
Single nucleotide variant
(synonymous variant +1 more)
Gamma-aminobutyric acid transaminase deficiency
+1 more
GConflicting classifications of pathogenicity
ABAT
(T196M +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ABAT
(M214T +6 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GLikely benign
ABAT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABAT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABAT
Single nucleotide variant
(synonymous variant)
Gamma-aminobutyric acid transaminase deficiency
+1 more
GBenign
ABAT
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
ABAT
(K311N +7 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABAT
(P386L +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ABAT
Deletion
(frameshift variant +2 more)
Gamma-aminobutyric acid transaminase deficiency
+1 more
GUncertain significance
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