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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC00685, LOC101929148
+160 more
Duplication
Autism
GLikely pathogenic
AKAP17A, AMELY
+162 more
Copy number loss
See cases
GPathogenic
AKAP17A, AMELY
+162 more
Copy number loss
See cases
GPathogenic
AKAP17A, AMELY
+158 more
Copy number loss
See cases
GPathogenic
AMELY, BPY2
+129 more
Copy number loss
See cases
GPathogenic
AMELY, BPY2
+124 more
Copy number gain
See cases
GPathogenic
TTTY3B, TTTY4
+124 more
Copy number loss
See cases
GPathogenic
FAM197Y5, FAM197Y6
+124 more
Copy number gain
See cases
GPathogenic
AMELY, BPY2
+124 more
Copy number gain
See cases
GPathogenic
AMELY, BPY2
+110 more
Copy number gain
See cases
GPathogenic
TMSB4Y, TSPY1
+112 more
Copy number loss
See cases
GPathogenic
AMELY, BPY2
+106 more
Copy number gain
See cases
GPathogenic
BPY2, BPY2B
+77 more
Copy number loss
See cases
GPathogenic
BPY2, BPY2B
+72 more
Copy number gain
See cases
GLikely pathogenic
BPY2, BPY2B
+70 more
Copy number gain
See cases
GPathogenic
BPY2, BPY2B
+69 more
Copy number gain
See cases
GLikely benign
LOC107838685, LOC108004538
+74 more
Copy number loss
See cases
GPathogenic
BPY2, BPY2B
+67 more
Copy number loss
See cases
GPathogenic
BPY2, BPY2B
+66 more
Copy number loss
See cases
GPathogenic
BPY2, BPY2B
+65 more
Copy number loss
See cases
GPathogenic
BPY2, BPY2B
+64 more
Copy number loss
See cases
GPathogenic
BPY2, BPY2B
+55 more
Copy number loss
See cases
GPathogenic
BPY2, BPY2B
+47 more
Copy number gain
See cases
GPathogenic
BPY2, BPY2B
+51 more
Copy number loss
See cases
GPathogenic
BPY2, BPY2B
+26 more
Copy number loss
See cases
GPathogenic
BPY2, BPY2B
+26 more
Copy number gain
See cases
GBenign
DAZ1, DAZ2
+18 more
Copy number loss
See cases
GPathogenic
BPY2, CDY1B
+6 more
Copy number gain
See cases
GUncertain significance
BPY2B, CDY1B
+8 more
Copy number loss
See cases
GLikely benign
BPY2B, CDY1B
+8 more
Copy number loss
See cases
GBenign
BPY2B, CDY1B
+8 more
Copy number loss
See cases
GBenign
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