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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSD11B2
(R74fs)
Indel
(frameshift variant)
Apparent mineralocorticoid excess
GUncertain significance
HSD11B2
Deletion
(inframe_deletion)
Apparent mineralocorticoid excess, mild
+1 more
GConflicting classifications of pathogenicity
HSD11B2
(R208C)
Single nucleotide variant
(missense variant)
Apparent mineralocorticoid excess
GLikely pathogenic
HSD11B2
Duplication
(inframe_insertion)
Apparent mineralocorticoid excess
GUncertain significance
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