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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MC2R
(G226R)
Single nucleotide variant
(missense variant)
Glucocorticoid deficiency 1
GLikely pathogenic
MC2R
(V187fs)
Deletion
(frameshift variant)
Glucocorticoid deficiency 1
GPathogenic