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Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862722, LOC126862723
+1646 more
Copy number gain
See cases
GPathogenic
LINC00683, LINC00907
+1643 more
Copy number gain
See cases
GPathogenic
DTNA, DYM
+1643 more
Copy number gain
See cases
GPathogenic
LINC01478, LINC01538
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062393, LOC130062394
+1643 more
Copy number gain
See cases
GPathogenic
RNF138, RNF152
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062575, LOC130062576
+1643 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1266 more
Copy number gain
See cases
GPathogenic
SKA1, SKOR2
+1089 more
Copy number gain
See cases
GPathogenic
LOC130062446, LOC130062447
+1266 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+1005 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+887 more
Copy number gain
See cases
GPathogenic
LOC125371434, LOC125371435
+879 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+733 more
Copy number gain
See cases
GPathogenic
ADNP2, ALPK2
+706 more
Copy number gain
See cases
GPathogenic
ADNP2, ALPK2
+664 more
Copy number loss
See cases
GPathogenic
ADNP2, ALPK2
+664 more
Copy number loss
See cases
GPathogenic
LOC130062755, LOC130062756
+644 more
Copy number loss
See cases
GPathogenic
LOC130062777, LOC130062778
+636 more
Copy number loss
See cases
GPathogenic
LOC130062712, LOC130062713
+636 more
Copy number gain
See cases
GPathogenic
LOC110121390, LOC111365201
+602 more
Copy number loss
See cases
GPathogenic
ADNP2, ALPK2
+572 more
Copy number loss
See cases
GPathogenic
ADNP2, ALPK2
+573 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+450 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+436 more
Copy number loss
See cases
GPathogenic
LINC01544, LINC01879
+430 more
Deletion
Deletion of long arm of chromosome 18
GPathogenic
TSHZ1, TXNL4A
+430 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+429 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+426 more
Copy number loss
See cases
GPathogenic
KCNG2, KDSR
+373 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+348 more
Copy number gain
See cases
GPathogenic
LOC110121330, LOC112543432
+347 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+320 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+308 more
Copy number loss
See cases
GPathogenic
LOC130062769, LOC130062770
+302 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+302 more
Copy number loss
See cases
GPathogenic
LOC132090901, LOC132211114
+300 more
Copy number loss
See cases
GPathogenic
LOC126862830, LOC126862831
+299 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+297 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+297 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+296 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+292 more
Copy number gain
See cases
GPathogenic
ADNP2, ATP9B
+291 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+288 more
Copy number loss
See cases
GPathogenic
LOC130062763, LOC130062764
+288 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+287 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+282 more
Copy number loss
See cases
GPathogenic
LOC130062726, LOC130062727
+282 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+279 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+279 more
Copy number loss
See cases
GPathogenic
LINC01922, LINC01927
+279 more
Deletion
Nystagmus
+10 more
GPathogenic
LOC132090511, LOC132090512
+278 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+248 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+241 more
Copy number gain
See cases
GPathogenic
ADNP2, ATP9B
+240 more
Copy number loss
See cases
GPathogenic
CBLN2, LINC02582
+14 more
Copy number gain
See cases
GUncertain significance
ADNP2, ATP9B
+240 more
Copy number loss
See cases
GPathogenic
LOC130062739, LOC130062740
+238 more
Copy number loss
See cases
GPathogenic
LINC02582, LOC107992389
+8 more
Copy number loss
See cases
Gconflicting data from submitters
ADNP2, ATP9B
+230 more
Copy number loss
See cases
GPathogenic
LOC126862797, LOC126862798
+230 more
Copy number gain
See cases
GPathogenic
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