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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129997450, LOC129997451
+1002 more
Copy number gain
See cases
GPathogenic
LOC129389692, LOC129389693
+614 more
Copy number gain
See cases
GPathogenic
LOC129389719, LOC129389720
+866 more
Copy number gain
See cases
GPathogenic
HYMAI, LOC113146422
+45 more
Copy number gain
See cases
GPathogenic
HYMAI, PLAGL1
Copy number gain
See cases
GBenign
ABRACL, ADAT2
+69 more
Copy number gain
not specified
GPathogenic
HYMAI, PLAGL1
+4 more
Copy number gain
not specified
GPathogenic
ABRACL, ADAT2
+155 more
Copy number gain
not specified
GPathogenic
ADAT2, ADGRG6
+11 more
Deletion
not provided
GPathogenic
HYMAI, LTV1
+6 more
Copy number gain
not specified
GPathogenic
ADAT2, AIG1
+10 more
Copy number gain
not specified
GPathogenic
FUCA2, HYMAI
+7 more
Deletion
Familial hemophagocytic lymphohistiocytosis 4
GPathogenic
HYMAI, PLAGL1
+3 more
Copy number gain
Global developmental delay
GUncertain significance
ABRACL, ADAT2
+49 more
Copy number loss
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
ADAT2, ADGB
+42 more
Copy number loss
See cases
GPathogenic
ADGB, AKAP12
+42 more
Copy number loss
See cases
GPathogenic
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