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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNAS, GNAS-AS1
(T160fs)
Deletion
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GNAS
Microsatellite
(inframe_insertion +1 more)
GNAS-related condition
+2 more
GBenign/Likely benign
GNAS
(M1T)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GNAS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
GNAS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
GNAS
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
GNAS
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GNAS
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GNAS
Single nucleotide variant
(synonymous variant +1 more)
Pseudohypoparathyroidism type I A
+6 more
GBenign
GNAS
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
GNAS
Microsatellite
(intron variant)
not provided
GConflicting classifications of pathogenicity
GNAS
(R258W +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
GNAS
(D261G +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GNAS
(A338D +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GNAS
(A366T +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
+1 more
GConflicting classifications of pathogenicity
GNAS
(V375A +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GNAS
(E392K +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
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