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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LINC02397, LINC02404
+169 more
Copy number loss
See cases
GLikely pathogenic
ABTB3, ACACB
+712 more
Copy number gain
See cases
GPathogenic
CEP83, CRADD
+49 more
Copy number gain
See cases
GUncertain significance
NUDT4
(G61S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUDT4
(V12M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUDT4
(V112F +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSS3, ALX1
+46 more
Copy number loss
not provided
GPathogenic
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
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