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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MC2R
(A252T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
MC2R
(R137Q)
Single nucleotide variant
(missense variant)
Glucocorticoid deficiency 1
GUncertain significance
MC2R
(S74I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
MC2R
(T33I)
Single nucleotide variant
(missense variant)
Glucocorticoid deficiency 1
GLikely benign
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