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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129997450, LOC129997451
+1002 more
Copy number gain
See cases
GPathogenic
FBXO5, FNDC1
+865 more
Copy number gain
See cases
GPathogenic
ACAT2, AFDN
+571 more
Copy number gain
See cases
GPathogenic
ACAT2, AFDN
+563 more
Copy number loss
See cases
GPathogenic
LOC129997707, LOC129997708
+548 more
Copy number loss
See cases
GPathogenic
ACAT2, AFDN
+539 more
Copy number loss
See cases
GPathogenic
SOD2, SOD2-OT1
+270 more
Copy number loss
See cases
GPathogenic
ACAT2, AIRN
+115 more
Copy number gain
See cases
GUncertain significance
ACAT2, AFDN
+339 more
Copy number loss
See cases
GPathogenic
ACAT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAT2
(N22S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAT2
(N22T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAT2
(C94G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAT2
(M140K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACAT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACAT2
(C158R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAT2
Single nucleotide variant
(intron variant)
not specified
GLikely benign
ACAT2
(E176K +1 more)
Single nucleotide variant
(missense variant)
Acetyl-CoA acetyltransferase-2 deficiency
GUncertain significance
ACAT2
(N191K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAT2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ACAT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACAT2
(H253Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAT2
(T240S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAT2
(V291I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAT2
(M293L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAT2
(K266N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAT2
(S284C +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ACAT2
(V315A +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ACAT2
(G316S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAT2
(E289D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAT2
(P290S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAT2
(N321S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAT2
(A323G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAT2
(A330V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACAT2, TCP1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
ACAT2, TCP1
(A348S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACAT2, TCP1
(A357G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACAT2, TCP1
(T369A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ACAT2, TCP1
(M402T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ACAT2, TCP1
(S376G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACAT2, TCP1
(D547E +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
ACAT2, AFDN
+79 more
Copy number loss
See cases
GPathogenic
ACAT2, AFDN
+54 more
Copy number gain
not provided
GUncertain significance
ACAT2, AGPAT4
+26 more
Deletion
not provided
GPathogenic
MAS1, MRPL18
+33 more
Copy number loss
See cases
GPathogenic
ACAT2, AFDN
+55 more
Copy number loss
Hydrocephalus
GPathogenic
ACAT2, AGPAT4
+44 more
Copy number loss
not specified
GPathogenic
PNLDC1, ACAT2
+6 more
Copy number gain
not provided
GUncertain significance
ACAT2, AIRN
+27 more
Copy number gain
not provided
GUncertain significance
ACAT2, MRPL18
+4 more
Copy number loss
not provided
GUncertain significance
ACAT2, SOD2
+1 more
Copy number loss
not provided
GUncertain significance
ACAT2, AFDN
+49 more
Copy number gain
not provided
GPathogenic
FNDC1, FRMD1
+86 more
Complex
Coffin-Siris syndrome 1
GPathogenic
TAAR8, TAAR9
+1028 more
Copy number gain
See cases
GPathogenic
VPS52, VTA1
+1028 more
Copy number gain
See cases
GPathogenic
ACAT2, AFDN
+87 more
Copy number gain
See cases
GPathogenic
ACAT1, ACAT2
Deletion
Deficiency of acetyl-CoA acetyltransferase
GPathogenic
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