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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA10, ADAM11
+2032 more
Copy number gain
See cases
GPathogenic
LOC130060795, LOC130060796
+1753 more
Copy number gain
See cases
GPathogenic
ABI3, ATP5MC1
+99 more
Copy number loss
See cases
GPathogenic
ABI3, ATP5MC1
+92 more
Copy number gain
See cases
GUncertain significance
LOC130061104, LOC130061105
+87 more
Copy number loss
See cases
GPathogenic
ABCC3, ABI3
+203 more
Copy number loss
See cases
GPathogenic
ABI3, CACNA1G
+45 more
Deletion
Tricho-dento-osseous syndrome
+1 more
GPathogenic
ABI3, ATP5MC1
+16 more
Copy number gain
not provided
GUncertain significance
ABI3, ATP5MC1
+11 more
Copy number gain
not provided
GUncertain significance
HOXB3, HOXB4
+67 more
Copy number loss
not provided
GLikely pathogenic
TNFSF12, TNFSF12-TNFSF13
+1143 more
Copy number gain
See cases
GPathogenic
AIPL1, AKAP1
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
B4GALNT2, GNGT2
+1 more
Copy number gain
See cases
GUncertain significance
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