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Links from Gene

Items: 1 to 100 of 1000

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNAS
(A358T)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
GNAS
Single nucleotide variant
(intron variant)
Pseudohypoparathyroidism type I A
GLikely pathogenic
GNAS
(I226T +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GNAS
(Q296R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GNAS
(R1001C +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GNAS, GNAS-AS1
(P179R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GNAS
(A270V +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GUncertain significance
GNAS
(P342A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GNAS
(A316fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
GNAS
(E90fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
GNAS
(Q27E +2 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
GNAS
(A504V +1 more)
Single nucleotide variant
(missense variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
(E80G)
Single nucleotide variant
(missense variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
(A570T +1 more)
Single nucleotide variant
(missense variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
(R569H)
Single nucleotide variant
(missense variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related disorder
GLikely benign
GNAS
Single nucleotide variant
(synonymous variant +1 more)
GNAS-related disorder
GLikely benign
GNAS
(E309K +1 more)
Single nucleotide variant
(missense variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
(P60T)
Single nucleotide variant
(5 prime UTR variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
(L668F)
Single nucleotide variant
(synonymous variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
(R4C)
Single nucleotide variant
(5 prime UTR variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
Microsatellite
(intron variant)
GNAS-related disorder
GLikely benign
GNAS, GNAS-AS1
(T160I)
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS, GNAS-AS1
Deletion
(5 prime UTR variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
(D389E +1 more)
Single nucleotide variant
(missense variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
Single nucleotide variant
(synonymous variant +1 more)
GNAS-related disorder
GLikely benign
GNAS, GNAS-AS1
(E2V)
Single nucleotide variant
(missense variant +1 more)
GNAS-related disorder
GLikely benign
GNAS
(N324H)
Single nucleotide variant
(synonymous variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
(P626T)
Single nucleotide variant
(synonymous variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
(H55Y)
Single nucleotide variant
(5 prime UTR variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
Single nucleotide variant
(intron variant)
GNAS-related disorder
GLikely benign
GNAS, GNAS-AS1
Indel
(5 prime UTR variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS, GNAS-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related disorder
GLikely benign
GNAS
(L184V)
Single nucleotide variant
(synonymous variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
(A388G +1 more)
Single nucleotide variant
(missense variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
(P420S +1 more)
Single nucleotide variant
(missense variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
(N11S)
Single nucleotide variant
(5 prime UTR variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
(D670N)
Single nucleotide variant
(synonymous variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
Insertion
(intron variant)
GNAS-related disorder
GLikely benign
GNAS
(S285R)
Single nucleotide variant
(missense variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related disorder
GLikely benign
GNAS
(D430G +1 more)
Single nucleotide variant
(missense variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS, GNAS-AS1
(T182fs)
Duplication
(5 prime UTR variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
Single nucleotide variant
(5 prime UTR variant +2 more)
GNAS-related disorder
GLikely benign
GNAS
(A18V)
Single nucleotide variant
(missense variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
(R429L)
Single nucleotide variant
(missense variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
(L479V +1 more)
Single nucleotide variant
(missense variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
Single nucleotide variant
(synonymous variant +1 more)
GNAS-related disorder
GLikely benign
GNAS
(R622G)
Single nucleotide variant
(missense variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
Single nucleotide variant
(synonymous variant +1 more)
GNAS-related disorder
GLikely benign
GNAS, GNAS-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related disorder
GLikely benign
GNAS
Single nucleotide variant
(synonymous variant +1 more)
GNAS-related disorder
GLikely benign
GNAS
(L266F)
Single nucleotide variant
(synonymous variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
(C619R +1 more)
Single nucleotide variant
(missense variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
(F233L +1 more)
Single nucleotide variant
(nonsense +2 more)
GNAS-related disorder
GUncertain significance
GNAS
(K667fs +1 more)
Deletion
(frameshift variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS, GNAS-AS1
(G156S)
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
(S582N)
Single nucleotide variant
(missense variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS, GNAS-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related disorder
GLikely benign
GNAS
Indel
(synonymous variant +1 more)
GNAS-related disorder
GLikely benign
GNAS
(K345N +1 more)
Single nucleotide variant
(missense variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
(P595R)
Single nucleotide variant
(missense variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
Single nucleotide variant
(synonymous variant +1 more)
GNAS-related disorder
GLikely benign
GNAS
(G172R +1 more)
Single nucleotide variant
(missense variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
(D579del +1 more)
Deletion
(inframe_deletion +1 more)
GNAS-related disorder
GUncertain significance
GNAS
(D574Y)
Single nucleotide variant
(synonymous variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
(N10D)
Single nucleotide variant
(5 prime UTR variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
(H1005Y +7 more)
Single nucleotide variant
(missense variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
(A260S)
Single nucleotide variant
(synonymous variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS, GNAS-AS1
(R14H)
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
Single nucleotide variant
(synonymous variant +1 more)
GNAS-related disorder
GLikely benign
GNAS
Single nucleotide variant
(synonymous variant +1 more)
GNAS-related disorder
GLikely benign
GNAS
(G196R)
Single nucleotide variant
(synonymous variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
Single nucleotide variant
(synonymous variant +1 more)
GNAS-related disorder
GLikely benign
GNAS
Single nucleotide variant
(3 prime UTR variant)
GNAS-related disorder
GLikely benign
GNAS, GNAS-AS1
Duplication
(5 prime UTR variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
Single nucleotide variant
(synonymous variant +1 more)
GNAS-related disorder
GLikely benign
GNAS
(A446V +1 more)
Single nucleotide variant
(intron variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
Single nucleotide variant
(intron variant)
GNAS-related disorder
GLikely benign
GNAS
(A550T)
Single nucleotide variant
(synonymous variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
Single nucleotide variant
(synonymous variant +1 more)
GNAS-related disorder
GLikely benign
GNAS
Single nucleotide variant
(synonymous variant +1 more)
GNAS-related disorder
GLikely benign
GNAS
(G432R)
Single nucleotide variant
(synonymous variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS, GNAS-AS1
(E81fs)
Deletion
(5 prime UTR variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
Single nucleotide variant
(intron variant)
GNAS-related disorder
GLikely benign
GNAS
(T257M)
Single nucleotide variant
(missense variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
(A537T +1 more)
Single nucleotide variant
(missense variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
Deletion
(intron variant)
GNAS-related disorder
GLikely benign
GNAS
(R451Q)
Single nucleotide variant
(missense variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
Microsatellite
(no sequence alteration +1 more)
GNAS-related disorder
GLikely benign
GNAS
Single nucleotide variant
(synonymous variant +1 more)
GNAS-related disorder
GLikely benign
GNAS, GNAS-AS1
(F155V)
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
(T544I)
Single nucleotide variant
(missense variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
(A469T)
Single nucleotide variant
(synonymous variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
(D419N)
Single nucleotide variant
(synonymous variant +2 more)
GNAS-related disorder
GUncertain significance
GNAS
(C586Y +1 more)
Single nucleotide variant
(missense variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS, GNAS-AS1
(R216P)
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related disorder
GLikely benign
GNAS
(E182K +1 more)
Single nucleotide variant
(missense variant +1 more)
GNAS-related disorder
GUncertain significance
GNAS
Single nucleotide variant
(5 prime UTR variant +2 more)
GNAS-related disorder
GLikely benign
GNAS, GNAS-AS1
(F107C)
Single nucleotide variant
(5 prime UTR variant +1 more)
GNAS-related disorder
GUncertain significance
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