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Items: 71

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABI1, ACBD5
+1221 more
Copy number gain
See cases
GBenign
A1CF, ADO
+561 more
Copy number gain
See cases
GPathogenic
LOC130003758, LOC130003759
+309 more
Copy number gain
See cases
GPathogenic
A1CF, ADAMTS14
+902 more
Copy number gain
See cases
GPathogenic
FAM170B, FAM170B-AS1
+306 more
Copy number gain
See cases
GPathogenic
AGAP4, AGAP6
+122 more
Deletion
10q11.22q11.23 deletion syndrome
GLikely pathogenic
AGAP10, AGAP4
+118 more
Copy number loss
See cases
GPathogenic
AGAP10, AGAP4
+125 more
Copy number loss
See cases
GPathogenic
RBP3, SLC18A3
+123 more
Copy number loss
See cases
GPathogenic
AGAP10, AGAP4
+122 more
Copy number loss
See cases
GUncertain significance
AGAP4, AGAP6
+122 more
Copy number loss
Pulmonary arterial hypertension
GLikely pathogenic
AGAP10, AGAP4
+121 more
Copy number loss
See cases
GLikely pathogenic
AGAP10, AGAP6
+119 more
Copy number gain
See cases
GUncertain significance
AGAP10, AGAP9
+114 more
Copy number loss
See cases
GLikely pathogenic
AGAP9, ANTXRL
+113 more
Copy number loss
See cases
GLikely pathogenic
AGAP10, AGAP9
+114 more
Copy number loss
See cases
GPathogenic
AGAP6, AGAP9
+147 more
Copy number loss
See cases
GPathogenic
AGAP9, ANTXRL
+112 more
Copy number loss
See cases
GLikely pathogenic
AGAP9, ANTXRL
+112 more
Copy number loss
See cases
GUncertain significance
AGAP9, ANTXRL
+112 more
Copy number gain
See cases
GPathogenic
AGAP10, AGAP9
+35 more
Copy number gain
See cases
GBenign
AGAP9, ANTXRL
+34 more
Copy number gain
See cases
GBenign
LOC130003791, LOC130003792
+109 more
Duplication
Schizophrenia
GLikely pathogenic
AGAP10, AGAP9
+34 more
Copy number loss
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number loss
See cases
GBenign
AGAP9, ANTXRL
+33 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+36 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number loss
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number gain
See cases
GBenign
AGAP9, ANTXRL
+33 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+34 more
Copy number gain
See cases
GBenign
GDF2, GPRIN2
+34 more
Copy number loss
See cases
GBenign
AGAP10, AGAP9
+30 more
Copy number gain
See cases
GBenign
AGAP9, ANXA8
+29 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+30 more
Copy number gain
See cases
GBenign
AGAP9, ANXA8
+29 more
Copy number loss
See cases
GBenign
AGAP10, AGAP9
+26 more
Copy number loss
See cases
GBenign
AGAP10, AGAP9
+26 more
Copy number gain
See cases
GBenign/Likely benign
SYT15B, ZNF488
+26 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+26 more
Copy number loss
See cases
GBenign
AGAP10, AGAP9
+26 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+26 more
Copy number gain
See cases
GBenign
AGAP10, AGAP9
+26 more
Copy number loss
See cases
GBenign
AGAP10, AGAP9
+28 more
Copy number loss
See cases
GLikely benign
ANXA8, NPY4R2
Variation
(no sequence alteration)
not provided
GBenign
ANXA8, NPY4R2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ANXA8, NPY4R2
(A99S)
Single nucleotide variant
(missense variant)
not provided
GBenign
ANXA8, NPY4R2
Variation
(no sequence alteration)
not provided
GBenign
ANXA8, NPY4R2
(R239W)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ANXA8, NPY4R2
(R239Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ANXA8, NPY4R2
(R240C)
Single nucleotide variant
(missense variant)
not provided
GBenign
ANXA8, NPY4R2
Variation
(no sequence alteration)
not provided
GBenign
ANXA8, NPY4R2
Variation
(no sequence alteration)
not provided
GBenign
ANXA8, NPY4R2
Variation
(no sequence alteration)
not provided
GBenign
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