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Items: 23

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
SUDS3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SUDS3
(E31D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUDS3
(D46G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUDS3
(L84F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUDS3
(L102P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUDS3
(E114D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUDS3
(F139S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUDS3
(P232L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUDS3
(P235A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUDS3
(K261R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SUDS3
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
CCDC60, FBXO21
+18 more
Copy number loss
not specified
GLikely pathogenic
SRRM4, SUDS3
+1 more
Copy number gain
not specified
GUncertain significance
PXN, RAB35
+24 more
Copy number gain
not specified
GLikely pathogenic
AACS, ABCB9
+135 more
Copy number gain
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GLikely pathogenic
FBXO21, FBXW8
+15 more
Copy number loss
not provided
GUncertain significance
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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