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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP39A1, DAAM2
+2577 more
Copy number gain
See cases
GPathogenic
LOC129995913, LOC129995914
+1340 more
Copy number gain
See cases
GPathogenic
GABBR1, HCG14
+61 more
Copy number gain
See cases
GUncertain significance
OR2I1P
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OR2I1P, UBD
(G149S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
OR2I1P, UBD
(T77I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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