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Items: 95

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8A2, ATXN8OS
+2049 more
Copy number loss
See cases
GPathogenic
LOC130009892, LOC130009893
+2050 more
Copy number gain
See cases
GPathogenic
LOC130009819, LOC130009820
+2048 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2045 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2046 more
Copy number gain
See cases
GPathogenic
LOC130009309, LOC130009310
+2041 more
Copy number gain
See cases
GPathogenic
LOC130009607, LOC130009608
+2029 more
Copy number gain
See cases
GPathogenic
LOC132090185, LOC132090186
+621 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009383, LOC130009384
+2022 more
Copy number gain
See cases
GPathogenic
LOC126861859, LOC126861860
+2025 more
Copy number gain
See cases
GPathogenic
LOC112163664, LOC112163665
+2025 more
Copy number gain
See cases
GPathogenic
LOC130009567, LOC130009568
+1005 more
Copy number gain
See cases
GPathogenic
LOC130009620, LOC130009621
+781 more
Copy number loss
See cases
GPathogenic
AKAP11, ALG5
+485 more
Copy number loss
See cases
GPathogenic
ACOD1, AKAP11
+992 more
Copy number gain
See cases
GPathogenic
ACOD1, AKAP11
+992 more
Copy number gain
See cases
GPathogenic
LOC130009600, LOC130009601
+735 more
Copy number gain
See cases
GPathogenic
LOC130009611, LOC130009612
+938 more
Copy number gain
See cases
GPathogenic
LOC130009687, LOC130009688
+1557 more
Copy number gain
See cases
GPathogenic
ALG5, CCDC169
+146 more
Copy number loss
See cases
GPathogenic
LINC00400, LINC02333
+604 more
Copy number loss
See cases
GPathogenic
LOC130009665, LOC130009659
+612 more
Copy number loss
See cases
GPathogenic
LOC126861769, LOC126861770
+437 more
Copy number loss
See cases
GPathogenic
LOC130009641, LOC130009642
+141 more
Copy number gain
See cases
GUncertain significance
FOXO1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
FOXO1
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
(H594R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
(V581M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
(T542A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FOXO1
(P540S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FOXO1
(H527Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
(A511S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FOXO1
(V496I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
(S453N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FOXO1
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
(S448G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
(Q400L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
(S394L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
(S366N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
(S366G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
(A356T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
FOXO1
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FOXO1
(R267Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOXO1
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
(G161D)
Single nucleotide variant
Malignant lymphoma, large B-cell, diffuse
GPathogenic
FOXO1
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1, LOC130009609
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1, LOC130009609
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FOXO1
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
(G104A)
Single nucleotide variant
(missense variant)
FOXO1-related disorder
GLikely benign
FOXO1
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1, LOC130009610
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1, LOC130009610
(A92V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1, LOC130009610
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1, LOC130009610
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
(F32Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
(F32V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOXO1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AKAP11, ALG11
+117 more
Copy number gain
not specified
GPathogenic
AKAP11, ALG5
+42 more
Copy number loss
not specified
GUncertain significance
ITM2B, KBTBD6
+119 more
Copy number loss
not provided
GPathogenic
ELF1, FOXO1
+2 more
Copy number gain
not provided
GUncertain significance
ALG5, CCDC169
+26 more
Copy number gain
not provided
GUncertain significance
B3GLCT, HS6ST3
+332 more
Copy number gain
not provided
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
Complete trisomy 13 syndrome
GPathogenic
AKAP11, COG6
+21 more
Copy number loss
not specified
GUncertain significance
SPART, SPRYD7
+147 more
Copy number loss
not specified
GPathogenic
AKAP11, ALG11
+127 more
Copy number loss
not specified
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not specified
GPathogenic
VPS36, VWA8
+329 more
Copy number gain
not specified
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
DACH1, IRS2
+332 more
Copy number gain
See cases
GPathogenic
CENPJ, CHAMP1
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
not provided
GPathogenic
NUDT15, NUFIP1
+211 more
Copy number gain
not provided
GPathogenic
ELF1, MRPS31
+2 more
Copy number gain
not provided
GUncertain significance
FGF9, FLT1
+332 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+332 more
Copy number gain
See cases
GPathogenic
CRYL1, CSNK1A1L
+332 more
Copy number gain
See cases
GPathogenic
GTF2F2, LINC00567
+332 more
Copy number gain
See cases
GPathogenic
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