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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM28, ADAM7
+979 more
Copy number gain
See cases
GPathogenic
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
LOC129999827, LOC129999828
+393 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
LOC101929290, LOC102723313
+448 more
Copy number gain
See cases
GPathogenic
LOC130000099, LOC130000100
+1040 more
Copy number gain
See cases
GPathogenic
LOC123987611, LOC123987612
+393 more
Copy number gain
See cases
GPathogenic
LOC130000032, LOC130000033
+1105 more
Copy number gain
See cases
GPathogenic
LOC129999940, LOC129999941
+687 more
Copy number gain
See cases
GPathogenic
LOC101929290, LOC102723313
+471 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
LOC129999950, LOC129999951
+996 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC129999950, LOC129999951
+736 more
Copy number gain
See cases
GPathogenic
LOC126860300, LOC126860301
+720 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ADAM28, ADAM7
+773 more
Copy number loss
See cases
GPathogenic
XKR5, XKR6
+773 more
Copy number loss
See cases
GPathogenic
DPYSL2, DUSP26
+1020 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+260 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+255 more
Copy number loss
See cases
GPathogenic
LOC129999824, LOC129999825
+255 more
Copy number gain
See cases
GPathogenic
BLK, C8orf74
+207 more
Copy number loss
See cases
GPathogenic
BLK, C8orf74
+206 more
Copy number loss
See cases
GPathogenic
PPP1R3B, PPP1R3B-DT
+205 more
Copy number gain
See cases
GPathogenic
LOC126860319, LOC126860320
+696 more
Copy number gain
See cases
GPathogenic
DEFB130A, DEFB130B
+16 more
Copy number loss
See cases
GBenign
DEFB130A, DEFB130B
+14 more
Copy number gain
See cases
GBenign
DEFB130A, FAM66A
+10 more
Copy number gain
See cases
GBenign
LOC130000106, LOC130000107
+937 more
Copy number gain
See cases
GPathogenic
DEFB130A, FAM66A
+6 more
Copy number gain
See cases
GUncertain significance
DEFB130A, FAM66A
+7 more
Copy number loss
See cases
GBenign
ADAM28, ADAM7
+499 more
Copy number gain
See cases
GPathogenic
FAM66A, FAM86B2
+18 more
Copy number gain
See cases
GBenign
LOC132089588, LOC132089589
+510 more
Copy number loss
See cases
GPathogenic
LOC130000241, LOC130000242
+934 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+665 more
Copy number gain
See cases
GPathogenic
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