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Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC130009126, LOC130009127
+906 more
Copy number gain
See cases
GPathogenic
LOC130009192, LOC130009193
+892 more
Copy number gain
See cases
GPathogenic
LOC132090050, LOC132090051
+786 more
Copy number gain
See cases
GPathogenic
AACS, ABCB9
+663 more
Copy number gain
See cases
GPathogenic
AACS, ABCB9
+416 more
Copy number loss
See cases
GPathogenic
AACS, ABCB9
+330 more
Copy number loss
See cases
GPathogenic
ABCB9, ARL6IP4
+38 more
Copy number gain
See cases
GUncertain significance
DENR
Single nucleotide variant
(5 prime UTR variant)
DENR-related disorder
GLikely benign
DENR
(P17S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DENR
(A21V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENR
(K22T)
Single nucleotide variant
(missense variant)
DENR-related disorder
GLikely benign
DENR
(D26Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENR
(L32P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENR
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DENR
(L68F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENR
Single nucleotide variant
(synonymous variant)
DENR-related disorder
GLikely benign
DENR
(E89D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DENR
Single nucleotide variant
(intron variant)
DENR-related disorder
GLikely benign
DENR
Single nucleotide variant
(synonymous variant)
DENR-related disorder
GLikely benign
DENR
(V111I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB9, ACADS
+73 more
Duplication
Deficiency of butyryl-CoA dehydrogenase
GUncertain significance
AACS, ABCB9
+93 more
Copy number gain
not provided
GPathogenic
AACS, ABCB9
+108 more
Copy number gain
not provided
GPathogenic
ABCB9, ANAPC5
+48 more
Copy number gain
See cases
GUncertain significance
ABCB9, ARL6IP4
+37 more
Deletion
not provided
GUncertain significance
CCDC62, CLIP1
+8 more
Copy number gain
not provided
GUncertain significance
ABCB9, ARL6IP4
+15 more
Copy number gain
not specified
GUncertain significance
AACS, ABCB9
+135 more
Copy number gain
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GLikely pathogenic
B3GNT4, BCL7A
+25 more
Copy number gain
not provided
GUncertain significance
AACS, ABCB9
+52 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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