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Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAT1
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign
ACAT1
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign
ACAT1
(A5P)
Single nucleotide variant
(missense variant)
Deficiency of acetyl-CoA acetyltransferase
+2 more
GBenign
ACAT1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ACAT1
(R31W)
Single nucleotide variant
(missense variant)
Deficiency of acetyl-CoA acetyltransferase
+1 more
GUncertain significance
ACAT1
(G68V)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ACAT1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ACAT1
(M148fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACAT1
(G152A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACAT1
Single nucleotide variant
(synonymous variant)
Deficiency of acetyl-CoA acetyltransferase
+2 more
GBenign
ACAT1
(N158D)
Single nucleotide variant
(missense variant)
ACAT1-related condition
+2 more
GPathogenic/Likely pathogenic
ACAT1
(N158S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACAT1
(R208Q)
Single nucleotide variant
(missense variant)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic/Likely pathogenic
ACAT1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACAT1
(E255D)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ACAT1
(Y256N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ACAT1
(Q272*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ACAT1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACAT1
(K302fs)
Deletion
(frameshift variant)
Deficiency of acetyl-CoA acetyltransferase
+1 more
GPathogenic/Likely pathogenic
ACAT1
Deletion
(intron variant)
not specified
GBenign
ACAT1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACAT1
Deletion
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACAT1
Indel
(splice acceptor variant)
not provided
GPathogenic
ACAT1
(G418D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACAT1
Duplication
(3 prime UTR variant)
not specified
+2 more
GBenign/Likely benign
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