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Items: 81

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
+83 more
Copy number gain
See cases
GLikely pathogenic
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, FAM197Y9
+26 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
TTTY7, TTTY8B
+24 more
Copy number gain
See cases
GPathogenic
AMELY, FAM197Y9
+10 more
Copy number loss
See cases
GLikely benign
AMELY, FAM197Y9
+16 more
Copy number gain
See cases
GLikely benign
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
AMELY, LOC126057105
+2 more
Copy number gain
See cases
GLikely benign
AMELY, LINC00279
+7 more
Copy number loss
See cases
GLikely benign
AMELY, LINC00279
+6 more
Copy number gain
See cases
GUncertain significance
AMELY, LINC00279
+8 more
Copy number loss
See cases
GUncertain significance
AMELY, LOC126057105
+2 more
Copy number gain
See cases
GLikely benign
LOC126057105, TBL1Y
(D69V)
Single nucleotide variant
(missense variant)
Deafness, Y-linked 2
GPathogenic
LOC126057105, TBL1Y
(S75I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LOC126057105, TBL1Y
(R138Q)
Single nucleotide variant
(missense variant)
TBL1Y-related disorder
GLikely benign
LOC126057105, TBL1Y
Single nucleotide variant
(splice donor variant)
TBL1Y-related disorder
+2 more
GBenign/Likely benign
TBL1Y
(D164N)
Single nucleotide variant
(missense variant)
TBL1Y-related disorder
GLikely benign
AMELY, TBL1Y
+12 more
Copy number loss
See cases
GUncertain significance
AMELY, CDY2A
+42 more
Copy number gain
not provided
GPathogenic
AMELY, FAM197Y1P
+32 more
Copy number loss
Klinefelter syndrome
GPathogenic
NLGN4Y, PCDH11Y
+82 more
Copy number gain
Global developmental delay
GPathogenic
AMELY, FAM197Y9
+13 more
Copy number gain
46,XX sex reversal 1
GPathogenic
NLGN4Y, PCDH11Y
+81 more
Copy number loss
not provided
GPathogenic
TTTY1B, TTTY21B
+5 more
Copy number gain
not provided
GUncertain significance
AMELY, FAM197Y9
+13 more
Copy number gain
Sex reversal
GPathogenic
AMELY, TBL1Y
Copy number gain
not provided
GUncertain significance
AMELY, TBL1Y
+12 more
Copy number loss
not provided
GLikely benign
AMELY, TBL1Y
+9 more
Copy number gain
not provided
GLikely benign
AMELY, TBL1Y
+11 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
AMELY, CDY2A
+58 more
Copy number gain
not provided
GPathogenic
AMELY, FAM197Y1P
+33 more
Copy number gain
not provided
GPathogenic
AMELY, DDX3Y
+36 more
Copy number loss
not provided
GPathogenic
AMELY, TBL1Y
+12 more
Copy number loss
not provided
GLikely benign
AMELY, TBL1Y
+12 more
Copy number loss
not provided
GLikely benign
AMELY, TBL1Y
+5 more
Copy number loss
not provided
GLikely benign
AMELY, BPY2
+81 more
Copy number loss
See cases
GPathogenic
FAM197Y10, AMELY
+81 more
Copy number gain
See cases
GUncertain significance
AMELY, TBL1Y
+6 more
Copy number loss
See cases
GLikely benign
AMELY, BPY2
+81 more
Copy number gain
See cases
GUncertain significance
AMELY, FAM197Y9
+14 more
Copy number gain
See cases
GLikely benign
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
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