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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABR, ABR-AS1
+962 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+463 more
Copy number loss
See cases
GPathogenic
MIR4521, MIR497
+922 more
Copy number gain
See cases
GPathogenic
OR1D4, OR1D5
+651 more
Copy number loss
See cases
GPathogenic
C17orf107, C17orf114
+498 more
Copy number loss
See cases
GPathogenic
LOC130060077, LOC130060078
+911 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
LOC130060025, LOC130060026
+458 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+604 more
Copy number gain
See cases
GPathogenic
LOC130060037, LOC130060038
+291 more
Copy number loss
See cases
GPathogenic
ALOX15, ANKFY1
+166 more
Copy number loss
See cases
GLikely pathogenic
C1QBP, DERL2
+22 more
Copy number gain
See cases
GUncertain significance
C1QBP, DERL2
+23 more
Copy number gain
See cases
GUncertain significance
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