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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC129937936, LOC129937937
+631 more
Copy number gain
See cases
GPathogenic
LOC123453201, LOC123453202
+1450 more
Copy number gain
See cases
GPathogenic
AADAC, AADACL2
+61 more
Copy number loss
See cases
GLikely pathogenic
LOC129938169, LOC129938170
+1318 more
Copy number gain
See cases
GPathogenic
MUC20, MUC4
+286 more
Duplication
not provided
GPathogenic
A4GNT, AADAC
+303 more
Copy number gain
not provided
GPathogenic
AADAC, AADACL2
+11 more
Copy number loss
not specified
GUncertain significance
AADAC, AADACL2
+75 more
Copy number gain
not specified
GPathogenic
AADAC, SLC33A1
+63 more
Copy number gain
Brachycephaly
+2 more
GPathogenic
PTX3, SCHIP1
+83 more
Copy number loss
not provided
GPathogenic
PLOD2, PLS1
+115 more
Copy number gain
Global developmental delay
GPathogenic
AADAC, AADACL2
+115 more
Copy number gain
See cases
GPathogenic
AADAC, AADACL2
+16 more
Copy number loss
See cases
GLikely pathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
AADAC, AADACL2
+35 more
Copy number loss
See cases
GPathogenic
AADAC, AADACL2
+220 more
Copy number gain
See cases
GPathogenic
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