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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAT1
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
ACAT1
Single nucleotide variant
(5 prime UTR variant)
Deficiency of acetyl-CoA acetyltransferase
+2 more
GBenign
ACAT1
(L4V)
Single nucleotide variant
(missense variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GUncertain significance
ACAT1
(A5P)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ACAT1
(E77K)
Single nucleotide variant
(5 prime UTR variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GUncertain significance
ACAT1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ACAT1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ACAT1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ACAT1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ACAT1
(Q272H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ACAT1
Insertion
(intron variant)
not specified
+2 more
GBenign
ACAT1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ACAT1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
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