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Items: 71

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD3, ACAA2
+1646 more
Copy number gain
See cases
GPathogenic
LOC126862711, LOC126862712
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062667, LOC130062668
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062278, LOC130062279
+1643 more
Copy number gain
See cases
GPathogenic
LOC126862732, LOC126862733
+1643 more
Copy number gain
See cases
GPathogenic
ANKRD12, ANKRD29
+1642 more
Copy number gain
See cases
GPathogenic
SERPINB12, SERPINB13
+1643 more
Copy number gain
See cases
GPathogenic
LOC125368553, LOC125368554
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062355, LOC130062356
+1642 more
Copy number gain
See cases
GPathogenic
LOC126862717, LOC126862718
+1266 more
Copy number gain
See cases
GPathogenic
LOC132211113, LOC132211114
+1266 more
Copy number gain
See cases
GPathogenic
LOC130062787, LOC130062788
+1005 more
Copy number gain
See cases
GPathogenic
LOC130062694, LOC130062695
+887 more
Copy number gain
See cases
GPathogenic
LINC01929, LINC02565
+879 more
Copy number gain
See cases
GPathogenic
LOC126862796, LOC126862797
+733 more
Copy number gain
See cases
GPathogenic
ADNP2, ALPK2
+706 more
Copy number gain
See cases
GPathogenic
LOC130062613, LOC130062614
+664 more
Copy number loss
See cases
GPathogenic
LOC130062683, LOC130062684
+664 more
Copy number loss
See cases
GPathogenic
LOC129391005, LOC129391006
+644 more
Copy number loss
See cases
GPathogenic
LOC130062551, LOC130062552
+636 more
Copy number loss
See cases
GPathogenic
LOC126862818, LOC126862819
+636 more
Copy number gain
See cases
GPathogenic
LOC130062592, LOC130062593
+602 more
Copy number loss
See cases
GPathogenic
LOC130062765, LOC130062766
+572 more
Copy number loss
See cases
GPathogenic
LOC108281158, LOC110120868
+573 more
Copy number loss
See cases
GPathogenic
CTDP1-DT, CYB5A
+450 more
Copy number loss
See cases
GPathogenic
SERPINB13, SERPINB2
+436 more
Copy number loss
See cases
GPathogenic
LOC126862831, LOC130062709
+430 more
Deletion
Deletion of long arm of chromosome 18
GPathogenic
LOC130062750, LOC130062751
+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
ADNP2, ATP9B
+373 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+348 more
Copy number gain
See cases
GPathogenic
ADNP2, ATP9B
+347 more
Copy number loss
See cases
GPathogenic
LOC112543433, LOC116276492
+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
LINC01893, LOC126862798
+279 more
Deletion
Pulmonary valve stenosis
+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
ADNP2, ATP9B
+240 more
Copy number loss
See cases
GPathogenic
LOC130062739, LOC130062740
+238 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+230 more
Copy number loss
See cases
GPathogenic
LOC126862797, LOC126862798
+230 more
Copy number gain
See cases
GPathogenic
ATP9B, C18orf63
+149 more
Copy number loss
See cases
GPathogenic
LOC130062797, LOC130062798
+160 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+154 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+155 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+155 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+155 more
Copy number loss
See cases
GPathogenic
ADNP2, ATP9B
+130 more
Copy number loss
See cases
GPathogenic
GALR1, LINC01029
+30 more
Copy number gain
See cases
GUncertain significance
ATP9B, GALR1
+57 more
Copy number gain
See cases
GUncertain significance
ADNP2, ATP9B
+96 more
Copy number loss
See cases
GPathogenic
LINC01029, LINC01896
+23 more
Copy number gain
See cases
GUncertain significance
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