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Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC00685, LOC101929148
+160 more
Duplication
Autism
GLikely pathogenic
AKAP17A, AMELY
+101 more
Copy number loss
See cases
GPathogenic
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
FAM197Y7, FAM197Y8
+64 more
Copy number gain
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, CDY2A
+100 more
Copy number gain
See cases
GPathogenic
FAM197Y5, FAM197Y6
+100 more
Copy number gain
See cases
GPathogenic
TTTY2, TTTY20
+85 more
Copy number gain
See cases
GPathogenic
AMELY, BPY2
+110 more
Copy number gain
See cases
GPathogenic
AMELY, CDY2A
+61 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
TMSB4Y
Copy number gain
See cases
GBenign
TMSB4Y
Copy number gain
See cases
GBenign
AMELY, CDY2A
+42 more
Copy number gain
not provided
GPathogenic
BPY2, BPY2B
+47 more
Copy number loss
not provided
GPathogenic
TTTY8B, TTTY9A
+82 more
Copy number gain
Global developmental delay
GPathogenic
RBMY1A1, RBMY1B
+46 more
Copy number loss
not provided
GPathogenic
PRORY, PRY
+81 more
Copy number loss
not provided
GPathogenic
BPY2, BPY2B
+43 more
Copy number loss
Male infertility
GPathogenic
TTTY15, TTTY17A
+46 more
Copy number loss
Male infertility
GPathogenic
CDY2A, DDX3Y
+23 more
Copy number loss
Male infertility
GPathogenic
AMELY, BPY2
+81 more
Copy number gain
not provided
GPathogenic
AMELY, DDX3Y
+38 more
Copy number gain
not provided
GPathogenic
BPY2, BPY2B
+43 more
Copy number loss
not provided
GPathogenic
AMELY, CDY2A
+42 more
Copy number gain
not provided
GPathogenic
AMELY, CDY2A
+42 more
Copy number gain
not provided
GPathogenic
AMELY, DDX3Y
+41 more
Copy number gain
not provided
GPathogenic
AMELY, DDX3Y
+41 more
Copy number gain
not provided
GPathogenic
TMSB4Y, TSPY1
+62 more
Copy number gain
not provided
GPathogenic
RBMY1J, RPS4Y2
+46 more
Copy number loss
not provided
GPathogenic
AMELY, CDY2A
+58 more
Copy number gain
not provided
GPathogenic
TSPY10, TSPY2
+81 more
Copy number loss
See cases
GPathogenic
AMELY, BPY2
+81 more
Copy number gain
See cases
GUncertain significance
DDX3Y, NLGN4Y
+5 more
Copy number loss
See cases
GPathogenic
AMELY, BPY2
+81 more
Copy number gain
See cases
GUncertain significance
BPY2, BPY2B
+46 more
Copy number loss
See cases
GPathogenic
AMELY, BPY2
+81 more
Copy number loss
See cases
GPathogenic
AMELY, BPY2
+82 more
Copy number loss
See cases
GPathogenic
BPY2, BPY2B
+44 more
Copy number loss
See cases
GPathogenic
AMELY, BPY2
+82 more
Copy number gain
See cases
GPathogenic
AMELY, BPY2
+82 more
Copy number loss
See cases
GPathogenic
AMELY, BPY2
+82 more
Copy number gain
See cases
GPathogenic
AMELY, DDX3Y
+38 more
Copy number gain
See cases
GPathogenic
AMELY, BPY2
+81 more
Copy number gain
See cases
GPathogenic
RBMY1J, RPS4Y1
+82 more
Copy number gain
See cases
GPathogenic
AMELY, BPY2
+82 more
Copy number gain
See cases
GPathogenic
TSPY3, TSPY4
+82 more
Copy number gain
See cases
GPathogenic
AMELY, BPY2
+81 more
Copy number gain
See cases
GPathogenic
AMELY, BPY2
+81 more
Copy number gain
See cases
GPathogenic
AMELY, BPY2
+81 more
Copy number loss
See cases
GPathogenic
DAZ3, DAZ4
+81 more
Copy number gain
See cases
GPathogenic
AMELY, BPY2
+81 more
Copy number gain
See cases
GPathogenic
BPY2, BPY2B
+46 more
Copy number loss
See cases
GPathogenic
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