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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHID1, CHRNA10
+917 more
Copy number gain
See cases
GPathogenic
ADM, ADM-DT
+208 more
Copy number loss
See cases
GPathogenic
C11orf58
Copy number loss
not provided
GUncertain significance
ART1, CD81
+308 more
Copy number gain
See cases
GPathogenic
ACER3, ACP2
+904 more
Deletion
Intellectual disability
GPathogenic
ABCC8, ANO3
+67 more
Copy number gain
not provided
GPathogenic
RASSF10, RCN1
+116 more
Copy number gain
not provided
GPathogenic
CCKBR, OR56A4
+343 more
Copy number gain
not provided
GPathogenic
ABCC8, C11orf58
+22 more
Copy number gain
not provided
GUncertain significance
ABCC8, C11orf58
+13 more
Copy number gain
not provided
GUncertain significance
RASSF10, RASSF7
+258 more
Copy number gain
not provided
GPathogenic
C11orf58, PLEKHA7
Copy number gain
not provided
GUncertain significance
ABCC8, ADM
+327 more
Copy number gain
See cases
GPathogenic
ACP2, CREBZF
+1289 more
Copy number gain
See cases
GPathogenic
GALNT18, MPZL3
+1289 more
Copy number gain
See cases
GPathogenic
ABCC8, ADM
+305 more
Copy number gain
See cases
GPathogenic
OR2AG2, OR2D2
+364 more
Copy number gain
See cases
GPathogenic
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