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Links from MedGen

Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNAS
(V118fs +5 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
PTH1R
(D241E)
Single nucleotide variant
(missense variant)
Pseudohypoparathyroidism
GLikely pathogenic
GNAS
(Q180*)
Single nucleotide variant
(synonymous variant +2 more)
GNAS-related disorder
+8 more
GUncertain significance
GNAS
(N357fs +5 more)
Deletion
(frameshift variant +1 more)
Pseudohypoparathyroidism
+1 more
GPathogenic
GNAS
Duplication
Cushing syndrome
+7 more
GPathogenic
GNAS
Deletion
(splice donor variant)
Pseudohypoparathyroidism
GLikely pathogenic
GNAS
(A190fs +1 more)
Deletion
(frameshift variant +1 more)
Intellectual disability
+1 more
GLikely pathogenic
GNAS
(R172C +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+11 more
GPathogenic/Likely pathogenic
GNAS
Single nucleotide variant
(splice donor variant)
Pseudohypoparathyroidism
GPathogenic
GNAS
Single nucleotide variant
(intron variant)
Pseudohypoparathyroidism
GUncertain significance
GNAS
Single nucleotide variant
(synonymous variant +1 more)
Pseudohypoparathyroidism
+10 more
GBenign/Likely benign
GNAS
(K32* +5 more)
Single nucleotide variant
(nonsense +1 more)
Pseudohypoparathyroidism
GPathogenic
GNAS
(L46R)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism
GUncertain significance
GNAS
(Q93* +5 more)
Single nucleotide variant
(nonsense +1 more)
Pseudohypoparathyroidism
GPathogenic
GNAS
(E159K)
Single nucleotide variant
(synonymous variant +2 more)
Pseudopseudohypoparathyroidism
+2 more
GConflicting classifications of pathogenicity
GNAS
(P423H)
Single nucleotide variant
(missense variant +2 more)
McCune-Albright syndrome
+8 more
GBenign/Likely benign
GNAS
(P338Q)
Single nucleotide variant
(missense variant +2 more)
Cushing syndrome
+7 more
GUncertain significance
GNAS
(Q29*)
Single nucleotide variant
(nonsense +1 more)
Pseudohypoparathyroidism type 1B
+16 more
GPathogenic
GNAS
(Q294* +5 more)
Single nucleotide variant
(nonsense +1 more)
Pseudohypoparathyroidism
+1 more
GLikely pathogenic
GNAS
(Q12*)
Single nucleotide variant
(nonsense +1 more)
Pseudopseudohypoparathyroidism
+11 more
GPathogenic
GNAS
Duplication
(inframe_insertion +1 more)
Pseudohypoparathyroidism
GPathogenic
GNAS
(D26fs +2 more)
Duplication
(frameshift variant +3 more)
Pseudohypoparathyroidism
GPathogenic
GNAS
(P115L +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
GNAS
(V272fs +5 more)
Microsatellite
(frameshift variant +1 more)
not provided
GPathogenic
GNAS
(R38fs)
Deletion
(frameshift variant +1 more)
Pseudopseudohypoparathyroidism
+1 more
GPathogenic
GNAS
(E101fs +5 more)
Microsatellite
(frameshift variant +1 more)
Pseudohypoparathyroidism
+1 more
GPathogenic
GNAS
(G147fs +5 more)
Deletion
(frameshift variant +1 more)
Pseudopseudohypoparathyroidism
+1 more
GPathogenic
GNAS
(R231H +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
+2 more
GPathogenic
GNAS
Deletion
(intron variant +1 more)
Pseudopseudohypoparathyroidism
+1 more
GPathogenic
GNAS
(S250R +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism
GPathogenic
GNAS
(D130fs +5 more)
Deletion
(frameshift variant +1 more)
Pseudohypoparathyroidism type I A
+13 more
GConflicting classifications of pathogenicity
GNAS
(R150C +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
+2 more
GPathogenic
GNAS
(L99P +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism
GPathogenic
GNAS
Single nucleotide variant
Pseudohypoparathyroidism
GPathogenic
GNAS
(T243fs +5 more)
Deletion
(frameshift variant +1 more)
Progressive osseous heteroplasia
+2 more
GPathogenic
GNAS
Single nucleotide variant
(splice donor variant)
Pseudohypoparathyroidism
+1 more
GPathogenic
GNAS
(M1V)
Single nucleotide variant
(missense variant +2 more)
Pituitary adenoma 3, multiple types
+8 more
GPathogenic/Likely pathogenic
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