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Items: 94

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
LOC101929148, LOC106144610
+10 more
Copy number loss
See cases
GLikely benign
RBMY1F, RBMY1J
+6 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
LOC101929148, PRY
+6 more
Copy number loss
See cases
GLikely benign
LOC101929148, PRY
+6 more
Copy number loss
See cases
GLikely benign
LOC101929148, PRY
+6 more
Copy number loss
See cases
GUncertain significance
LOC101929148, PRY
+5 more
Copy number loss
See cases
GUncertain significance
PRY, LOC101929148
+3 more
Copy number gain
Pregnancy loss, recurrent, susceptibility to, 1
GUncertain significance
LOC101929148, PRY
+2 more
Copy number gain
See cases
GBenign
BPY2, BPY2B
+33 more
Copy number loss
not provided
GPathogenic
BPY2, DAZ1
+10 more
Copy number gain
not provided
GUncertain significance
BPY2, BPY2B
+38 more
Copy number loss
not provided
GPathogenic
PRY, PRY2
+5 more
Copy number loss
not provided
GUncertain significance
BPY2, BPY2B
+39 more
Copy number loss
not provided
GUncertain significance
BPY2, BPY2B
+47 more
Copy number loss
not provided
GPathogenic
BPY2, DAZ1
+10 more
Copy number loss
not provided
GUncertain significance
BPY2, BPY2B
+15 more
Copy number loss
not provided
GUncertain significance
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
PRY, PRY2
+7 more
Copy number loss
See cases
GLikely pathogenic
BPY2, BPY2B
+43 more
Copy number loss
Male infertility
GPathogenic
TTTY15, TTTY17A
+46 more
Copy number loss
Male infertility
GPathogenic
BPY2, BPY2B
+32 more
Copy number loss
Male infertility
GPathogenic
BPY2, BPY2B
+15 more
Copy number loss
Male infertility
GPathogenic
TTTY10, TTTY13
+38 more
Copy number loss
Male infertility
GPathogenic
HSFY1, HSFY2
+38 more
Copy number loss
Male infertility
GPathogenic
TTTY17B, TTTY17C
+23 more
Copy number loss
Male infertility
GPathogenic
BPY2, BPY2B
+15 more
Copy number loss
Male infertility
GPathogenic
DAZ2, DAZ3
+37 more
Copy number loss
Male infertility
GPathogenic
TTTY4B, DAZ3
+15 more
Copy number gain
not provided
GLikely benign
BPY2, BPY2B
+38 more
Copy number gain
not provided
GLikely benign
AMELY, BPY2
+81 more
Copy number gain
not provided
GPathogenic
RBMY1J, RPS4Y2
+41 more
Copy number gain
not provided
GPathogenic
BPY2, BPY2B
+43 more
Copy number loss
not provided
GPathogenic
BPY2, BPY2B
+33 more
Copy number loss
not provided
GPathogenic
TTTY13, TTTY17C
+33 more
Copy number loss
not provided
GPathogenic
RBMY1J, RPS4Y2
+46 more
Copy number loss
not provided
GPathogenic
RBMY1E, RBMY1F
+38 more
Copy number gain
not provided
GLikely benign
TTTY5, TTTY6
+21 more
Copy number loss
not provided
GPathogenic
EIF1AY, FAM197Y10
+21 more
Copy number loss
not provided
GLikely benign
TTTY17C, CDY1
+15 more
Copy number gain
not provided
GLikely benign
TTTY17A, PRY
+15 more
Copy number loss
not provided
GUncertain significance
TSPY10, TSPY2
+81 more
Copy number loss
See cases
GPathogenic
AMELY, BPY2
+81 more
Copy number gain
See cases
GUncertain significance
BPY2, BPY2B
+21 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
DAZ2, DAZ3
+36 more
Copy number gain
See cases
GLikely benign
BPY2, BPY2B
+35 more
Copy number loss
See cases
GPathogenic
BPY2, BPY2B
+44 more
Copy number loss
See cases
GPathogenic
BPY2, BPY2B
+22 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
TTTY4B, TTTY4C
+40 more
Copy number loss
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
BPY2, BPY2B
+39 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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