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Links from MedGen

Items: 1 to 100 of 104

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNAS
(R112T +7 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
GUncertain significance
GNAS
(D264H +7 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
GUncertain significance
GNAS
(H188fs +7 more)
Deletion
(frameshift variant +1 more)
Pseudohypoparathyroidism type I A
GLikely pathogenic
GNAS
(K667E)
Single nucleotide variant
(synonymous variant +2 more)
Pseudohypoparathyroidism type 1C
+3 more
GUncertain significance
GNAS
(K234R +7 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
GLikely pathogenic
GNAS
Single nucleotide variant
(intron variant)
Pseudohypoparathyroidism type I A
GUncertain significance
GNAS
Single nucleotide variant
(splice donor variant)
Pseudohypoparathyroidism type I A
GLikely pathogenic
GNAS
(E113* +7 more)
Single nucleotide variant
(nonsense +1 more)
Pseudohypoparathyroidism type I A
GPathogenic
GNAS, GNAS-AS1
(R3G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1C
+3 more
GConflicting classifications of pathogenicity
GNAS
(R101P +7 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
GPathogenic
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
(I36N +7 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
GUncertain significance
GNAS
(D124fs +5 more)
Deletion
(frameshift variant +1 more)
Pseudohypoparathyroidism type I A
GLikely pathogenic
GNAS
(L223R +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
GLikely pathogenic
GNAS
(Y115C +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
+1 more
GConflicting classifications of pathogenicity
GNAS
Indel
(intron variant)
Pseudohypoparathyroidism type I A
GPathogenic
GNAS
(E142del +5 more)
Deletion
(inframe_deletion +1 more)
Pseudohypoparathyroidism type I A
GUncertain significance
GNAS
(H134R +5 more)
Single nucleotide variant
(missense variant +1 more)
GNAS-related disorder
+1 more
GLikely pathogenic
GNAS
(R169H +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudopseudohypoparathyroidism
+8 more
GUncertain significance
GNAS
(V143fs +5 more)
Duplication
(frameshift variant +1 more)
Pseudohypoparathyroidism type I A
GPathogenic
GNAS
(R140P +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
GPathogenic
GNAS, GNAS-AS1
(R3W)
Single nucleotide variant
(5 prime UTR variant +1 more)
Pseudohypoparathyroidism type I A
GUncertain significance
GNAS
(S625G)
Single nucleotide variant
(synonymous variant +2 more)
Pseudohypoparathyroidism type 1B
+4 more
GUncertain significance
GNAS
(G52S +1 more)
Single nucleotide variant
(missense variant +3 more)
Pseudohypoparathyroidism type I A
GLikely pathogenic
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
(R258H +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
GUncertain significance
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
(M1I)
Single nucleotide variant
(missense variant +2 more)
Pseudohypoparathyroidism type I A
GPathogenic
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
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
(I372T +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
GPathogenic
GNAS
(R356H +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
GPathogenic
GNAS
(G353R +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
GPathogenic
GNAS
(R347T +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
GPathogenic
GNAS
(R342Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
GPathogenic
GNAS
(S306L +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
+1 more
GConflicting classifications of pathogenicity
GNAS
(R265H +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
+1 more
GPathogenic/Likely pathogenic
GNAS
(R258L +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
GPathogenic
GNAS
(W234C +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
+1 more
GConflicting classifications of pathogenicity
GNAS
(R228C +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type 1B
+2 more
GPathogenic/Likely pathogenic
GNAS
(R199C +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
GPathogenic
GNAS
(Y169X +5 more)
Single nucleotide variant
(nonsense +1 more)
Pseudohypoparathyroidism type I A
GPathogenic
GNAS
(Y163X +5 more)
Single nucleotide variant
(nonsense +1 more)
Pseudohypoparathyroidism type I A
+1 more
GPathogenic
GNAS
(Q384E +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
GPathogenic
GNAS
(L43V)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
GPathogenic
GNAS
(R42S)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
GPathogenic
GNAS
Deletion
(inframe_deletion +1 more)
Pseudohypoparathyroidism type I A
+1 more
GLikely pathogenic
GNAS
(Q180*)
Single nucleotide variant
(synonymous variant +2 more)
GNAS-related disorder
+8 more
GUncertain significance
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
(A366T +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+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
(P423H)
Single nucleotide variant
(missense variant +2 more)
Pseudohypoparathyroidism type 1C
+8 more
GBenign/Likely benign
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
(R231H +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
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