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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
LOC126862582, LOC126862583
+1753 more
Copy number gain
See cases
GPathogenic
AKAP1, AKAP1-DT
+83 more
Copy number loss
See cases
GPathogenic
AKAP1, AKAP1-DT
+76 more
Copy number loss
See cases
GPathogenic
C17orf47, CCDC182
+168 more
Copy number loss
See cases
GPathogenic
KIF18B, LPO
+196 more
Deletion
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
SLC4A1, DCAKD
+422 more
Copy number loss
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
CUEDC1, DYNLL2
+14 more
Deletion
Neurodevelopmental delay
+1 more
GPathogenic
CUEDC1, DYNLL2
+9 more
Deletion
Neurodevelopmental delay
+1 more
GPathogenic
LPO, MKS1
+21 more
Copy number loss
See cases
GPathogenic
AKAP1, APPBP2
+54 more
Duplication
Meckel-Gruber syndrome
+1 more
GUncertain significance
CUEDC1, MRPS23
+2 more
Copy number loss
not provided
GUncertain significance
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
AKAP1, ANKFN1
+42 more
Copy number gain
See cases
GPathogenic
AKAP1, ANKFN1
+65 more
Copy number gain
See cases
GPathogenic
MKS1, DYNLL2
+19 more
Copy number loss
See cases
GLikely pathogenic
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