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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
MIR4521, MIR497
+922 more
Copy number gain
See cases
GPathogenic
OR1D4, OR1D5
+651 more
Copy number loss
See cases
GPathogenic
LOC130060077, LOC130060078
+911 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
ABR, ABR-AS1
+604 more
Copy number gain
See cases
GPathogenic
ACADVL, ACAP1
+461 more
Copy number gain
See cases
GPathogenic
SPEM3, TEKT1
+229 more
Copy number loss
See cases
GPathogenic
ACADVL, ACAP1
+182 more
Copy number gain
See cases
GLikely pathogenic
ACADVL, ALOX12
+53 more
Copy number gain
See cases
GUncertain significance
ACADVL, ACAP1
+106 more
Copy number gain
See cases
GUncertain significance
ACADVL, ACAP1
+72 more
Copy number loss
See cases
GPathogenic
ACADVL, MIR324
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
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