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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTR1A, ARL3
+121 more
Copy number loss
See cases
GPathogenic
CYP17A1, LOC110408762
Single nucleotide variant
(5 prime UTR variant)
Deficiency of steroid 17-alpha-monooxygenase
+1 more
GConflicting classifications of pathogenicity
CYP17A1, LOC110408762
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
CYP17A1, LOC110408762
Single nucleotide variant
not provided
GLikely benign
CYP17A1, LOC110408762
Single nucleotide variant
not provided
GBenign
CYP17A1, LOC110408762
Duplication
not provided
GBenign
CYP17A1, LOC110408762
Deletion
not provided
GLikely benign
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