U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 75

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC106128902, LOC106144556
+160 more
Duplication
Autism
GLikely pathogenic
AKAP17A, AMELY
+88 more
Copy number loss
See cases
GPathogenic
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, DDX3Y
+54 more
Copy number gain
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, CDY2A
+100 more
Copy number gain
See cases
GPathogenic
AMELY, CDY2A
+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
AMELY, BPY2
+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
DDX3Y, LOC108004538
+2 more
Copy number loss
See cases
GLikely pathogenic
DDX3Y, TTTY15
+1 more
Copy number loss
See cases
GUncertain significance
BPY2, BPY2B
+70 more
Copy number gain
See cases
GPathogenic
DDX3Y, LOC108004538
+3 more
Copy number gain
See cases
GUncertain significance
BPY2, BPY2B
+69 more
Copy number gain
See cases
GLikely benign
DDX3Y
(E142fs +1 more)
Duplication
(frameshift variant +1 more)
Non-obstructive azoospermia
GLikely pathogenic
DDX3Y
Single nucleotide variant
(synonymous variant +1 more)
DDX3Y-related disorder
GLikely benign
DDX3Y
(N409fs +1 more)
Deletion
(frameshift variant +1 more)
Non-obstructive azoospermia
GLikely pathogenic
DDX3Y
(K422* +1 more)
Duplication
(nonsense +1 more)
Non-obstructive azoospermia
GLikely pathogenic
DDX3Y
Deletion
(splice donor variant)
Non-obstructive azoospermia
GLikely pathogenic
AMELY, CDY2A
+42 more
Copy number gain
not provided
GPathogenic
BPY2, BPY2B
+47 more
Copy number loss
not provided
GPathogenic
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
BPY2, BPY2B
+46 more
Copy number loss
Male infertility
GPathogenic
DDX3Y, TTTY15
+1 more
Copy number loss
Male infertility
GPathogenic
CDY2A, DDX3Y
+23 more
Copy number loss
Male infertility
GPathogenic
UTY, DDX3Y
+1 more
Copy number gain
not provided
GUncertain significance
DDX3Y, TTTY15
+1 more
Copy number loss
not provided
GPathogenic
DDX3Y, USP9Y
+1 more
Copy number gain
not provided
GUncertain significance
FAM197Y9, HSFY1
+81 more
Copy number gain
not provided
GPathogenic
AMELY, DDX3Y
+38 more
Copy number gain
not provided
GPathogenic
AMELY, DDX3Y
+36 more
Copy number gain
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
DDX3Y, CDY2A
+62 more
Copy number gain
not provided
GPathogenic
BPY2, BPY2B
+46 more
Copy number loss
not provided
GPathogenic
AMELY, CDY2A
+58 more
Copy number gain
not provided
GPathogenic
AMELY, DDX3Y
+36 more
Copy number loss
not provided
GPathogenic
AMELY, BPY2
+81 more
Copy number loss
See cases
GPathogenic
FAM197Y10, AMELY
+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
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
AMELY, DDX3Y
+38 more
Copy number gain
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
AMELY, BPY2
+81 more
Copy number loss
See cases
GPathogenic
RBMY1E, RBMY1F
+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
Format
Items per page
Sort by
Choose Destination