U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 684

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAT1
Deletion
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
Deletion
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
Deletion
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
Deletion
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
Deletion
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
Deletion
Deficiency of acetyl-CoA acetyltransferase
GLikely pathogenic
ACAT1
(I122fs +2 more)
Insertion
(frameshift variant +2 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely pathogenic
ACAT1
Single nucleotide variant
(splice donor variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
Single nucleotide variant
(splice acceptor variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely pathogenic
ACAT1
(G283A +3 more)
Single nucleotide variant
(missense variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely pathogenic
ACAT1
(G166fs +3 more)
Microsatellite
(frameshift variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely pathogenic
ACAT1
(S137F +2 more)
Single nucleotide variant
(missense variant +2 more)
Deficiency of acetyl-CoA acetyltransferase
GUncertain significance
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Deletion
(inframe_deletion +1 more)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Deletion
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GBenign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
(L67R)
Single nucleotide variant
(missense variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GUncertain significance
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GUncertain significance
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +2 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
(A42P +2 more)
Single nucleotide variant
(missense variant +2 more)
Deficiency of acetyl-CoA acetyltransferase
GUncertain significance
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(splice donor variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely pathogenic
ACAT1
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
(Y161* +3 more)
Single nucleotide variant
(nonsense +1 more)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
(Q138fs +2 more)
Insertion
(frameshift variant +2 more)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
(C390R)
Single nucleotide variant
(missense variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
(I282V +3 more)
Single nucleotide variant
(missense variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely pathogenic
ACAT1
(F394fs)
Duplication
(frameshift variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Deletion
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Duplication
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +2 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
(K304* +4 more)
Single nucleotide variant
(nonsense +1 more)
Deficiency of acetyl-CoA acetyltransferase
GUncertain significance
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Insertion
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Deletion
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GBenign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
(F55I)
Single nucleotide variant
(missense variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Deletion
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
(M1L)
Single nucleotide variant
(missense variant +4 more)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
(A102fs +3 more)
Deletion
(frameshift variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
Single nucleotide variant
(synonymous variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
(L19W +1 more)
Single nucleotide variant
(missense variant +2 more)
Deficiency of acetyl-CoA acetyltransferase
GUncertain significance
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Deletion
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +2 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
(V270I +3 more)
Single nucleotide variant
(missense variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GUncertain significance
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
(E5G)
Single nucleotide variant
(synonymous variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
Format
Items per page
Sort by
Choose Destination