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Items: 96

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APBA2, ARHGAP11A
+264 more
Copy number gain
See cases
GPathogenic
SNORD115-26, SNORD115-27
+201 more
Copy number gain
See cases
GPathogenic
APBA2, ATP10A
+203 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+188 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+192 more
Copy number gain
See cases
GPathogenic
APBA2, ARHGAP11B
+254 more
Copy number gain
See cases
GPathogenic
APBA2, ATP10A
+219 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+195 more
Copy number gain
See cases
GPathogenic
APBA2, ATP10A
+218 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+163 more
Copy number loss
Angelman syndrome
GPathogenic
ATP10A, ATP10A-DT
+182 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+182 more
Copy number loss
See cases
GPathogenic
APBA2, ATP10A
+197 more
Copy number loss
See cases
GPathogenic
CYFIP1, GOLGA6L1
+24 more
Copy number loss
Chromosome 15q11.2 deletion syndrome
GPathogenic
SNORD107, SNORD108
+171 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+171 more
Copy number loss
See cases
GPathogenic
CYFIP1, GOLGA6L22
+19 more
Copy number loss
See cases
GUncertain significance
ATP10A, ATP10A-DT
+171 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+171 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+171 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+171 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+171 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+171 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+171 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+171 more
Copy number gain
See cases
GPathogenic
CYFIP1, GOLGA6L22
+19 more
Copy number gain
See cases
GBenign
ATP10A, ATP10A-DT
+171 more
Copy number loss
See cases
GPathogenic
SNORD116-20, SNORD116-21
+171 more
Copy number gain
See cases
GPathogenic
GABRG3-AS1, GOLGA6L1
+171 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+171 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+171 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+171 more
Copy number gain
See cases
GPathogenic
CYFIP1, GOLGA6L22
+19 more
Copy number loss
See cases
GUncertain significance
ATP10A, ATP10A-DT
+171 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+171 more
Copy number gain
See cases
GPathogenic
GABRG3, GABRG3-AS1
+228 more
Duplication
Autism
GPathogenic
MIR4509-1, NIPA1
+21 more
Deletion
Autism
+1 more
GPathogenic
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
GBenign
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
GUncertain significance
CYFIP1, LOC112272575
+18 more
Copy number loss
Microcephaly-digital anomalies-intellectual disability syndrome
GPathogenic
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
GUncertain significance
LOC112272576, LOC126862074
+20 more
Deletion
Autism
GPathogenic
CYFIP1, LOC112272575
+18 more
Copy number gain
See cases
GBenign
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
GUncertain significance
CYFIP1, LOC112272575
+18 more
Copy number gain
See cases
GConflicting classifications of pathogenicity
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
GConflicting classifications of pathogenicity
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
GUncertain significance
CYFIP1, GOLGA6L1
+19 more
Copy number loss
See cases
GUncertain significance
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
Gconflicting data from submitters
CYFIP1, LOC112272575
+18 more
Copy number gain
See cases
GLikely benign
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
Gconflicting data from submitters
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
GUncertain significance
CYFIP1, LOC112272575
+18 more
Copy number loss
Chromosome 15q11.2 deletion syndrome
GPathogenic
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
Gconflicting data from submitters
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
Gconflicting data from submitters
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
Gconflicting data from submitters
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
Gconflicting data from submitters
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
GUncertain significance
GABRA5, GOLGA6L26
+170 more
Copy number gain
15q11q13 microduplication syndrome
GPathogenic
APBA2, ATP10A
+189 more
Copy number gain
15q11q13 microduplication syndrome
GPathogenic
APBA2, ARHGAP11B
+227 more
Copy number gain
15q11q13 microduplication syndrome
GPathogenic
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
GBenign
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
GBenign
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
Gconflicting data from submitters
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
GUncertain significance
CYFIP1, LOC112272575
+18 more
Copy number loss
Autism spectrum disorder
GPathogenic
CYFIP1, LOC112272575
+18 more
Deletion
Chromosome 15q11.2 deletion syndrome
GUncertain significance
CYFIP1, LOC112272575
+18 more
Deletion
Chromosome 15q11.2 deletion syndrome
GPathogenic
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
GUncertain significance
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
GUncertain significance
CYFIP1, LOC112272575
+18 more
Copy number gain
See cases
GBenign
CYFIP1, LOC112272575
+18 more
Copy number gain
See cases
GBenign
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
GUncertain significance
CYFIP1, GOLGA6L1
+19 more
Copy number gain
See cases
GUncertain significance
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
GBenign
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
GConflicting classifications of pathogenicity
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
GUncertain significance
CYFIP1, LOC112272575
+18 more
Copy number gain
See cases
GBenign
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
GUncertain significance
CYFIP1, LOC112272575
+18 more
Copy number loss
See cases
GUncertain significance
LOC130056710, LOC130056711
+19 more
Deletion
Autism
+1 more
GPathogenic
CYFIP1, LOC112272575
+17 more
Deletion
Schizophrenia
GPathogenic
CYFIP1, GOLGA6L1
+19 more
Deletion
Schizophrenia
GPathogenic
CYFIP1, LOC112272575
+17 more
Copy number loss
See cases
GUncertain significance
GOLGA8S, CYFIP1
+22 more
Deletion
Chromosome 15q11.2 deletion syndrome
GPathogenic
CYFIP1, LOC112272575
+17 more
Duplication
Neurodevelopmental disorder
GUncertain significance
CYFIP1, LOC112272575
+17 more
Copy number gain
See cases
GUncertain significance
CYFIP1, LOC112272575
+17 more
Copy number gain
See cases
GBenign
CYFIP1, LOC112272575
+17 more
Copy number loss
See cases
Gconflicting data from submitters
CYFIP1, LOC112272575
+17 more
Copy number gain
See cases
GBenign
CYFIP1, LOC112272575
+17 more
Copy number loss
See cases
GUncertain significance
CYFIP1, LOC112272575
+17 more
Copy number loss
See cases
GUncertain significance
CYFIP1, LOC112272575
+17 more
Deletion
Autism
+1 more
GPathogenic
CYFIP1, LOC112272575
+16 more
Copy number loss
15q11.2 BP1-BP2 recurrent deletion
GPathogenic
LOC126862074, LOC130056709
+16 more
Deletion
Autism
+1 more
GPathogenic
CYFIP1, LOC112272575
+16 more
Copy number loss
See cases
GUncertain significance
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