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Items: 98

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC106128902, LOC106144556
+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
AMELY, BPY2
+124 more
Copy number loss
See cases
GPathogenic
AMELY, BPY2
+124 more
Copy number gain
See cases
GPathogenic
AMELY, BPY2
+124 more
Copy number gain
See cases
GPathogenic
AMELY, BPY2
+112 more
Copy number loss
See cases
GPathogenic
AMELY, BPY2
+106 more
Copy number gain
See cases
GPathogenic
CDY2B, FAM197Y10
+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
FAM224A, FAM224B
+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
BPY2, BPY2B
+18 more
Copy number loss
See cases
GPathogenic
BPY2C, DAZ4
+1 more
Copy number loss
See cases
GUncertain significance
BPY2B, BPY2C
+9 more
Copy number loss
not provided
GUncertain significance
HSFY1, BPY2
+38 more
Copy number loss
not provided
GPathogenic
HSFY2, KDM5D
+39 more
Copy number loss
not provided
GUncertain significance
BPY2B, BPY2C
+6 more
Copy number loss
not provided
GUncertain significance
BPY2, BPY2B
+47 more
Copy number loss
not provided
GPathogenic
BPY2, BPY2B
+15 more
Copy number loss
not provided
GUncertain significance
BPY2B, BPY2C
+8 more
Copy number gain
See cases
GUncertain significance
BPY2, BPY2B
+14 more
Copy number gain
See cases
GUncertain significance
BPY2B, BPY2C
+9 more
Copy number gain
Autism
GUncertain significance
NLGN4Y, PCDH11Y
+82 more
Copy number gain
Global developmental delay
GPathogenic
BPY2, BPY2B
+46 more
Copy number loss
not provided
GPathogenic
NLGN4Y, PCDH11Y
+81 more
Copy number loss
not provided
GPathogenic
BPY2B, BPY2C
+6 more
Copy number loss
not provided
GUncertain significance
DAZ2, DAZ3
+14 more
Copy number loss
not provided
GUncertain significance
DAZ3, TTTY4C
+7 more
Copy number loss
not provided
GUncertain significance
BPY2, BPY2B
+43 more
Copy number loss
Male infertility
GPathogenic
BPY2, BPY2B
+46 more
Copy number loss
Male infertility
GPathogenic
RBMY1A1, RBMY1B
+32 more
Copy number loss
Male infertility
GPathogenic
BPY2, BPY2B
+15 more
Copy number loss
Male infertility
GPathogenic
BPY2, BPY2B
+38 more
Copy number loss
Male infertility
GPathogenic
BPY2, BPY2B
+38 more
Copy number loss
Male infertility
GPathogenic
BPY2, BPY2B
+14 more
Copy number loss
Male infertility
GPathogenic
BPY2, BPY2B
+23 more
Copy number loss
Male infertility
GPathogenic
BPY2, BPY2B
+15 more
Copy number loss
Male infertility
GPathogenic
BPY2, BPY2B
+37 more
Copy number loss
Male infertility
GPathogenic
BPY2C, TTTY17B
+8 more
Copy number loss
not provided
GPathogenic
TTTY4, CDY1
+14 more
Copy number loss
not provided
GPathogenic
TTTY4B, DAZ3
+15 more
Copy number gain
not provided
GLikely benign
BPY2, BPY2B
+38 more
Copy number gain
not provided
GLikely benign
FAM197Y9, HSFY1
+81 more
Copy number gain
not provided
GPathogenic
BPY2, BPY2B
+41 more
Copy number gain
not provided
GPathogenic
BPY2, BPY2B
+43 more
Copy number loss
not provided
GPathogenic
PRY, PRY2
+33 more
Copy number loss
not provided
GPathogenic
TTTY17C, TTTY3
+33 more
Copy number loss
not provided
GPathogenic
BPY2, BPY2B
+46 more
Copy number loss
not provided
GPathogenic
CDY2A, DAZ1
+38 more
Copy number gain
not provided
GLikely benign
TTTY6, DAZ3
+21 more
Copy number loss
not provided
GPathogenic
DAZ4, DAZ2
+14 more
Copy number loss
not provided
GPathogenic
TTTY17C, CDY1
+15 more
Copy number gain
not provided
GLikely benign
TTTY17A, PRY
+15 more
Copy number loss
not provided
GUncertain significance
TTTY4C, TTTY17B
+14 more
Copy number loss
not provided
GPathogenic
TTTY17B, TTTY4B
+6 more
Copy number loss
not provided
GUncertain significance
AMELY, BPY2
+81 more
Copy number loss
See cases
GPathogenic
TTTY17A, TTTY17B
+81 more
Copy number gain
See cases
GUncertain significance
DAZ2, BPY2
+21 more
Copy number loss
See cases
GPathogenic
BPY2B, BPY2C
+8 more
Copy number loss
See cases
GLikely pathogenic
BPY2B, BPY2C
+6 more
Copy number loss
See cases
GUncertain significance
AMELY, BPY2
+81 more
Copy number gain
See cases
GUncertain significance
BPY2B, BPY2C
+8 more
Copy number loss
See cases
GUncertain significance
DAZ2, DAZ3
+46 more
Copy number loss
See cases
GPathogenic
AMELY, BPY2
+81 more
Copy number loss
See cases
GPathogenic
TTTY22, TTTY23
+82 more
Copy number loss
See cases
GPathogenic
BPY2, BPY2B
+36 more
Copy number gain
See cases
GLikely benign
BPY2, BPY2B
+35 more
Copy number loss
See cases
GPathogenic
HSFY1, HSFY2
+44 more
Copy number loss
See cases
GPathogenic
BPY2, BPY2B
+22 more
Copy number loss
See cases
GPathogenic
AMELY, FAM197Y10
+82 more
Copy number gain
See cases
GPathogenic
TTTY9B, USP9Y
+82 more
Copy number loss
See cases
GPathogenic
FAM197Y1P, FAM197Y9
+82 more
Copy number gain
See cases
GPathogenic
RPS4Y2, TTTY10
+40 more
Copy number loss
See cases
GPathogenic
AMELY, BPY2
+81 more
Copy number gain
See cases
GPathogenic
TSPY2, TSPY3
+82 more
Copy number gain
See cases
GPathogenic
AMELY, BPY2
+82 more
Copy number gain
See cases
GPathogenic
TBL1Y, TGIF2LY
+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
AMELY, BPY2
+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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