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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNAS
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+2 more
GPathogenic
GNAS
(R150C +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
GNAS
(D130fs +5 more)
Deletion
(frameshift variant +1 more)
Inborn genetic diseases
+12 more
GConflicting classifications of pathogenicity
GNAS
(R201G +5 more)
Single nucleotide variant
(missense variant +1 more)
McCune-Albright syndrome
GPathogenic
GNAS
(R201S +5 more)
Single nucleotide variant
(missense variant +1 more)
ACTH-independent macronodular adrenal hyperplasia 1
+2 more
GPathogenic
GNAS
(R201C +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
OOncogenic
GNAS
(R201L +5 more)
Single nucleotide variant
(missense variant +1 more)
Breast neoplasm
+10 more
GLikely pathogenic
GNAS
(R201H +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic
OOncogenic
GNAS
(Q227K +5 more)
Single nucleotide variant
(missense variant +1 more)
McCune-Albright syndrome
Gnot provided
GNAS
(Q227L +5 more)
Single nucleotide variant
(missense variant +1 more)
Neoplasm
GLikely pathogenic
GNAS
(Q227R +5 more)
Single nucleotide variant
(missense variant +1 more)
Pituitary adenoma 3, multiple types
GPathogenic
GNAS
(Q227H +5 more)
Single nucleotide variant
(missense variant +1 more)
McCune-Albright syndrome
Gnot provided
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