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Links from Gene

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAB35
(C145R)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ABCB9, ACADS
+73 more
Duplication
Deficiency of butyryl-CoA dehydrogenase
GUncertain significance
RAB35
(G124R)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
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
PXN, ACADS
+19 more
Copy number gain
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
LOC130009126, LOC130009127
+906 more
Copy number gain
See cases
GPathogenic
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC130009192, LOC130009193
+892 more
Copy number gain
See cases
GPathogenic
LOC130008976, LOC130008977
+264 more
Copy number gain
See cases
GUncertain significance
LOC132090050, LOC132090051
+786 more
Copy number gain
See cases
GPathogenic
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