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Items: 1 to 100 of 370

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
SNORD107, SNORD108
+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
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
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
ATP10A, ATP10A-DT
+171 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+171 more
Copy number gain
See cases
GPathogenic
APBA2, ARHGAP11B
+228 more
Duplication
Autism
GPathogenic
PWRN3, PWRN4
+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
PWRN1, SNORD116-6
+184 more
Duplication
15q11q13 microduplication syndrome
GPathogenic
OCA2, PWAR1
+178 more
Duplication
15q11q13 microduplication syndrome
GPathogenic
SNORD116-28, SNORD116-29
+153 more
Duplication
Schizophrenia
GPathogenic
GOLGA8F, PWRN2
+151 more
Duplication
Autism
GPathogenic
SNORD116-28, SNORD116-29
+150 more
Duplication
Schizophrenia
GPathogenic
GABRA5, PWRN4
+143 more
Deletion
Angelman syndrome
GPathogenic
APBA2, ATP10A
+170 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+143 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+147 more
Copy number loss
See cases
GPathogenic
APBA2, ATP10A
+172 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+143 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+147 more
Copy number loss
See cases
GPathogenic
APBA2, CHRFAM7A
+205 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+147 more
Copy number gain
See cases
GPathogenic
APBA2, ARHGAP11B
+190 more
Copy number gain
See cases
GPathogenic
APBA2, ARHGAP11A-DT
+212 more
Copy number gain
See cases
GPathogenic
ACTC1, APBA2
+363 more
Copy number gain
See cases
GPathogenic
APBA2, ARHGAP11B
+205 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+119 more
Copy number gain
See cases
GPathogenic
APBA2, ATP10A
+166 more
Copy number gain
See cases
GPathogenic
LOC130056725, LOC132090298
+170 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+143 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+143 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+143 more
Copy number loss
See cases
GPathogenic
APBA2, ATP10A
+166 more
Copy number gain
See cases
GPathogenic
ACTC1, APBA2
+346 more
Copy number loss
See cases
GPathogenic
HERC2, IPW
+143 more
Copy number loss
See cases
GPathogenic
APBA2, ATP10A
+166 more
Copy number gain
See cases
GPathogenic
LOC126862086, LOC126862087
+170 more
Copy number gain
See cases
GPathogenic
GOLGA6L2, ATP10A
+143 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+143 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+143 more
Copy number gain
See cases
GPathogenic
APBA2, ATP10A
+166 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+143 more
Copy number gain
See cases
GPathogenic
GOLGA6L2, ATP10A
+142 more
Copy number loss
See cases
GPathogenic
SNORD116-22, SNORD116-23
+143 more
Copy number loss
See cases
GPathogenic
APBA2, ATP10A
+167 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+142 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+142 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+150 more
Copy number gain
See cases
GPathogenic
APBA2, ARHGAP11A-DT
+212 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+143 more
Copy number loss
See cases
GPathogenic
SNORD115-24, SNORD115-25
+147 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+143 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+147 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+143 more
Copy number loss
See cases
GPathogenic
APBA2, ARHGAP11B
+205 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+147 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+151 more
Copy number gain
See cases
GPathogenic
APBA2, ATP10A
+167 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+150 more
Copy number gain
See cases
GPathogenic
APBA2, ATP10A
+166 more
Copy number loss
See cases
GPathogenic
SNORD116-25, SNORD116-26
+143 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+143 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+147 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+143 more
Copy number loss
See cases
GPathogenic
APBA2, ATP10A
+166 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+151 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+143 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+142 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+150 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+150 more
Copy number gain
See cases
GPathogenic
ATP10A, ATP10A-DT
+142 more
Copy number loss
See cases
GPathogenic
ATP10A, ATP10A-DT
+142 more
Copy number loss
See cases
GPathogenic
GOLGA6L2, ATP10A
+148 more
Copy number loss
See cases
GPathogenic
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