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Links from MedGen

Items: 88

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNAS
(V107G +7 more)
Single nucleotide variant
(missense variant +1 more)
Pseudopseudohypoparathyroidism
GLikely pathogenic
GNAS
(K667E)
Single nucleotide variant
(synonymous variant +2 more)
Pseudohypoparathyroidism type 1C
+3 more
GUncertain significance
GNAS
(R224C +7 more)
Single nucleotide variant
(missense variant +1 more)
Pseudopseudohypoparathyroidism
GUncertain significance
GNAS
(D250N)
Single nucleotide variant
(synonymous variant +2 more)
GNAS-related disorder
+4 more
GUncertain significance
GNAS, GNAS-AS1
(E205K)
Single nucleotide variant
(5 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
+3 more
GUncertain significance
GNAS
(R600C)
Single nucleotide variant
(synonymous variant +2 more)
Pseudohypoparathyroidism type 1B
+3 more
GUncertain significance
GNAS
(A263T)
Single nucleotide variant
(synonymous variant +2 more)
Pseudohypoparathyroidism type 1B
+3 more
GUncertain significance
GNAS
(T502P +1 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type 1B
+3 more
GUncertain significance
GNAS
(D236G +1 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type 1B
+5 more
GConflicting classifications of pathogenicity
GNAS
(F377fs +5 more)
Microsatellite
(frameshift variant +1 more)
GNAS-related disorder
+1 more
GPathogenic
GNAS
Single nucleotide variant
(splice acceptor variant)
Pseudopseudohypoparathyroidism
GLikely pathogenic
GNAS
(R169H +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudopseudohypoparathyroidism
+8 more
GUncertain significance
GNAS
(S625G)
Single nucleotide variant
(synonymous variant +2 more)
Pseudohypoparathyroidism type 1B
+4 more
GUncertain significance
GNAS
Single nucleotide variant
(intron variant)
Pseudohypoparathyroidism type 1C
+8 more
GLikely benign
GNAS
Single nucleotide variant
(intron variant)
Pseudohypoparathyroidism type 1C
+8 more
GLikely benign
GNAS
Single nucleotide variant
(intron variant)
Pseudohypoparathyroidism type 1C
+8 more
GLikely benign
GNAS
Single nucleotide variant
(intron variant)
Progressive osseous heteroplasia
+9 more
GLikely benign
GNAS
Single nucleotide variant
(intron variant)
Pseudohypoparathyroidism type 1C
+8 more
GLikely benign
GNAS
Single nucleotide variant
(intron variant)
not provided
+9 more
GLikely benign
GNAS
Deletion
(intron variant)
Pseudohypoparathyroidism type 1C
+8 more
GBenign/Likely benign
GNAS
Single nucleotide variant
(synonymous variant +1 more)
Pseudohypoparathyroidism type 1C
+8 more
GLikely benign
GNAS
Single nucleotide variant
(intron variant)
Pseudohypoparathyroidism type 1C
+8 more
GLikely benign
GNAS
Single nucleotide variant
(synonymous variant +1 more)
Pseudohypoparathyroidism type 1C
+9 more
GLikely benign
GNAS
(E109K +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GUncertain significance
GNAS
(R42fs)
Duplication
(frameshift variant +1 more)
Pseudohypoparathyroidism type 1B
+4 more
GLikely pathogenic
GNAS
Deletion
(splice donor variant)
Pseudopseudohypoparathyroidism
GLikely pathogenic
GNAS
(S363L)
Single nucleotide variant
(genic upstream transcript variant +3 more)
not provided
+8 more
GUncertain significance
GNAS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+8 more
GLikely benign
GNAS
(P107A +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudopseudohypoparathyroidism
GLikely pathogenic
GNAS
Single nucleotide variant
(synonymous variant +1 more)
Pseudohypoparathyroidism type 1C
+8 more
GBenign/Likely benign
GNAS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+9 more
GLikely benign
GNAS, GNAS-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
McCune-Albright syndrome
+8 more
GBenign/Likely benign
GNAS
(Q31*)
Single nucleotide variant
(nonsense +1 more)
Pseudohypoparathyroidism type 1C
+8 more
GPathogenic
GNAS
(G270R +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GUncertain significance
GNAS
(P414R)
Single nucleotide variant
(missense variant +2 more)
McCune-Albright syndrome
+8 more
GBenign/Likely benign
GNAS
(E52K)
Single nucleotide variant
(5 prime UTR variant +2 more)
GNAS-related disorder
+9 more
GConflicting classifications of pathogenicity
GNAS
(Q403P)
Single nucleotide variant
(missense variant +2 more)
GNAS-related disorder
+9 more
GLikely benign
GNAS
(G315C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GUncertain significance
GNAS
(Q180*)
Single nucleotide variant
(synonymous variant +2 more)
GNAS-related disorder
+8 more
GUncertain significance
GNAS
(F85L)
Single nucleotide variant
(synonymous variant +2 more)
Pseudopseudohypoparathyroidism
GUncertain significance
GNAS
(N233del +5 more)
Microsatellite
(inframe_deletion +1 more)
Pseudopseudohypoparathyroidism
GLikely pathogenic
GNAS
Duplication
Cushing syndrome
+7 more
GPathogenic
LOC130066270, GNAS
Deletion
(splice acceptor variant +1 more)
Pseudopseudohypoparathyroidism
GLikely pathogenic
GNAS
(A426P)
Single nucleotide variant
(genic upstream transcript variant +3 more)
Pseudohypoparathyroidism type 1B
+8 more
GConflicting classifications of pathogenicity
GNAS
(P379L)
Single nucleotide variant
(missense variant +2 more)
Pseudohypoparathyroidism type 1B
+7 more
GUncertain significance
GNAS
(V58fs +5 more)
Duplication
(frameshift variant +1 more)
Pituitary adenoma 3, multiple types
+8 more
GPathogenic
GNAS
(R172C +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+11 more
GPathogenic/Likely pathogenic
GNAS
(P169S)
Single nucleotide variant
(synonymous variant +2 more)
McCune-Albright syndrome
+4 more
GUncertain significance
GNAS
(P345R)
Single nucleotide variant
(missense variant +2 more)
Pseudohypoparathyroidism type 1B
+8 more
GBenign/Likely benign
GNAS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+8 more
GLikely benign
GNAS
Single nucleotide variant
(synonymous variant +1 more)
ACTH-independent macronodular adrenal hyperplasia 1
+8 more
GLikely benign
GNAS
Single nucleotide variant
(synonymous variant +1 more)
not specified
+10 more
GBenign/Likely benign
GNAS
Single nucleotide variant
(synonymous variant +1 more)
Pseudohypoparathyroidism
+10 more
GBenign/Likely benign
GNAS
(D320N)
Single nucleotide variant
(genic upstream transcript variant +3 more)
not provided
+8 more
GLikely benign
GNAS
Single nucleotide variant
(synonymous variant +1 more)
McCune-Albright syndrome
+9 more
GBenign/Likely benign
GNAS
(S305P)
Single nucleotide variant
(synonymous variant +2 more)
Progressive osseous heteroplasia
+8 more
GLikely benign
GNAS
Single nucleotide variant
(synonymous variant +1 more)
McCune-Albright syndrome
+9 more
GLikely benign
GNAS
Single nucleotide variant
(synonymous variant +1 more)
McCune-Albright syndrome
+9 more
GLikely benign
GNAS
(K101N +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudopseudohypoparathyroidism
GLikely pathogenic
GNAS
(S252R +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudopseudohypoparathyroidism
GLikely pathogenic
GNAS
(P412L)
Single nucleotide variant
(missense variant +2 more)
Pseudopseudohypoparathyroidism
+1 more
GConflicting classifications of pathogenicity
GNAS
(A33D)
Single nucleotide variant
(5 prime UTR variant +2 more)
Pseudohypoparathyroidism type 1C
+9 more
GUncertain significance
GNAS
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+2 more
GPathogenic
GNAS
(E159K)
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
GNAS
(P423H)
Single nucleotide variant
(missense variant +2 more)
Pseudohypoparathyroidism type 1C
+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
(intron variant +1 more)
Cushing syndrome
+16 more
GPathogenic
GNAS
(Q12*)
Single nucleotide variant
(nonsense +1 more)
GNAS-related disorder
+11 more
GPathogenic
GNAS
Single nucleotide variant
(synonymous variant +1 more)
Pseudohypoparathyroidism type I A
+6 more
GBenign
GNAS
(A488T)
Single nucleotide variant
(genic upstream transcript variant +3 more)
Pseudohypoparathyroidism type 1C
+8 more
GConflicting classifications of pathogenicity
GNAS
(R600G)
Single nucleotide variant
(synonymous variant +2 more)
not provided
+8 more
GBenign/Likely benign
GNAS
(M162V)
Single nucleotide variant
(synonymous variant +2 more)
Pseudohypoparathyroidism type 1C
+8 more
GBenign/Likely benign
GNAS
(R147S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GLikely benign
GNAS
(L397V +1 more)
Single nucleotide variant
(missense variant +2 more)
GNAS-related disorder
+9 more
GBenign/Likely benign
GNAS
(P374T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GBenign
GNAS
Single nucleotide variant
(synonymous variant +1 more)
Pseudohypoparathyroidism type 1B
+8 more
GBenign/Likely benign
GNAS
(P115L +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
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
Variation
Pseudopseudohypoparathyroidism
GPathogenic
GNAS
(R258A +5 more)
Indel
(missense variant +1 more)
Pseudopseudohypoparathyroidism
GPathogenic
GNAS
(R258W +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
GNAS
Deletion
(intron variant +1 more)
Pseudopseudohypoparathyroidism
+1 more
GPathogenic
GNAS
(D130fs +5 more)
Deletion
(frameshift variant +1 more)
not specified
+13 more
GConflicting classifications of pathogenicity
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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