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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129996876, LOC129996877
+1449 more
Copy number gain
See cases
GPathogenic
AFG1L, AK9
+558 more
Copy number loss
See cases
GPathogenic
LOC126859762, LOC126859763
+460 more
Copy number loss
See cases
GPathogenic
AFG1L, AK9
+472 more
Copy number loss
See cases
GPathogenic
AK9, AKAP7
+519 more
Copy number loss
See cases
GPathogenic
ARHGAP18, ASF1A
+316 more
Copy number loss
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
CALHM4, CALHM5
+91 more
Copy number loss
See cases
GLikely pathogenic
LOC129389639, LOC129389640
+254 more
Copy number loss
See cases
GPathogenic
AKAP7, ARG1
+400 more
Deletion
Interstitial 6q microdeletion syndrome
GPathogenic
ASF1A, CEP85L
+68 more
Copy number loss
See cases
GLikely pathogenic
DCBLD1, GOPC
+24 more
Copy number gain
See cases
GUncertain significance
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