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Items: 1 to 100 of 760

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006596, LOC130006597
+387 more
Copy number loss
See cases
GPathogenic
AASDHPPT, ABCG4
+1199 more
Copy number gain
See cases
GPathogenic
ACAT1, ALKBH8
+28 more
Copy number loss
See cases
GPathogenic
ACAT1
Deletion
(intron variant)
not provided
GBenign
ACAT1
Single nucleotide variant
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GUncertain significance
ACAT1
Single nucleotide variant
(5 prime UTR variant)
Deficiency of acetyl-CoA acetyltransferase
+1 more
GBenign
ACAT1
Single nucleotide variant
(5 prime UTR variant)
Deficiency of acetyl-CoA acetyltransferase
GUncertain significance
ACAT1
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
ACAT1
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign
ACAT1
Single nucleotide variant
(5 prime UTR variant)
Deficiency of acetyl-CoA acetyltransferase
+2 more
GBenign
ACAT1
Single nucleotide variant
(5 prime UTR variant)
Deficiency of acetyl-CoA acetyltransferase
GUncertain significance
ACAT1
(M1L)
Single nucleotide variant
(missense variant +4 more)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
(M1V)
Single nucleotide variant
(missense variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
(M1T)
Single nucleotide variant
(missense variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
(M1K)
Single nucleotide variant
(missense variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
(A2V)
Single nucleotide variant
(missense variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GUncertain significance
ACAT1
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
(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
(A5V)
Single nucleotide variant
(missense variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GUncertain significance
ACAT1
Single nucleotide variant
(synonymous variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(synonymous variant)
Deficiency of acetyl-CoA acetyltransferase
GConflicting classifications of pathogenicity
ACAT1
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 +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 +3 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
(S10N)
Single nucleotide variant
(missense variant)
Deficiency of acetyl-CoA acetyltransferase
GUncertain significance
ACAT1
(S10fs)
Deletion
(frameshift variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic/Likely pathogenic
ACAT1
(G11S)
Single nucleotide variant
(missense variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GUncertain significance
ACAT1
Single nucleotide variant
(synonymous variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
(A12T)
Single nucleotide variant
(missense variant)
Deficiency of acetyl-CoA acetyltransferase
+1 more
GUncertain significance
ACAT1
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 +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 +3 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
(R15C)
Single nucleotide variant
(missense variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GUncertain significance
ACAT1
Single nucleotide variant
(synonymous variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
(L18fs)
Duplication
(frameshift variant)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
Single nucleotide variant
(synonymous variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
(P17S)
Single nucleotide variant
(missense variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GUncertain significance
ACAT1
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
(L18V)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
ACAT1
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)
not provided
+1 more
GConflicting classifications of pathogenicity
ACAT1
Deletion
(splice donor variant)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic/Likely pathogenic
ACAT1
(Q24*)
Single nucleotide variant
(nonsense +3 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely pathogenic
ACAT1
(Q24P)
Single nucleotide variant
(missense variant)
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
(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)
not provided
GBenign
ACAT1
Deletion
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Deletion
(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)
ACAT1-related disorder
GLikely benign
ACAT1
Single nucleotide variant
(splice acceptor variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely pathogenic
ACAT1
(I26fs)
Duplication
(frameshift variant +2 more)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
(E25fs)
Deletion
(frameshift variant +2 more)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
(I26V)
Single nucleotide variant
(missense variant +2 more)
Deficiency of acetyl-CoA acetyltransferase
GUncertain significance
ACAT1
(R27*)
Single nucleotide variant
(nonsense)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
(Y28fs)
Microsatellite
(frameshift variant +2 more)
Deficiency of acetyl-CoA acetyltransferase
+1 more
GPathogenic
ACAT1
(E30fs)
Microsatellite
(frameshift variant +2 more)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic/Likely pathogenic
ACAT1
Single nucleotide variant
(synonymous variant +2 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
(V29L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACAT1
(R31W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACAT1
Single nucleotide variant
(synonymous variant +2 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(5 prime UTR variant +2 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
(Y33*)
Single nucleotide variant
(nonsense)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
(S35*)
Single nucleotide variant
(nonsense +2 more)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
ACAT1
Single nucleotide variant
(synonymous variant +2 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
(T38I)
Single nucleotide variant
(missense variant +2 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
ACAT1
Single nucleotide variant
(splice donor variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely pathogenic
ACAT1
Single nucleotide variant
(splice donor variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely pathogenic
ACAT1
Single nucleotide variant
(splice donor variant)
Deficiency of acetyl-CoA acetyltransferase
GLikely pathogenic
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, LOC129390351
Indel
(splice acceptor 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
(intron variant)
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
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
GConflicting classifications of pathogenicity
ACAT1
Single nucleotide variant
(splice acceptor variant +1 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely pathogenic
ACAT1
Single nucleotide variant
(synonymous variant +3 more)
Deficiency of acetyl-CoA acetyltransferase
GLikely benign
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