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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNAS
(M139T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GNAS
(M1L)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
GNAS
(F114S +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GNAS
(R172C +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism
+11 more
GPathogenic/Likely pathogenic
GNAS
(W234C +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
+1 more
GConflicting classifications of pathogenicity
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