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Items: 14

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
LOC130059883, LOC130059884
+922 more
Copy number gain
See cases
GPathogenic
TRARG1, TRPV1
+651 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+498 more
Copy number loss
See cases
GPathogenic
SAT2, SCARF1
+911 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
LOC121848004, LOC121848005
+457 more
Copy number loss
See cases
GPathogenic
LOC130059937, LOC130059938
+604 more
Copy number gain
See cases
GPathogenic
CAMKK1, CAMTA2
+303 more
Copy number loss
See cases
GPathogenic
AIPL1, ALOX12
+290 more
Copy number loss
See cases
GPathogenic
ALOX15, ANKFY1
+166 more
Copy number loss
See cases
GLikely pathogenic
ALOX15, ANKFY1
+141 more
Copy number gain
See cases
GLikely benign
C17orf107, C17orf114
+68 more
Duplication
7p22.1 microduplication syndrome
GUncertain significance
CAMTA2, CAMTA2-AS1
+48 more
Copy number loss
See cases
GLikely pathogenic
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