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Links from MedGen

Items: 1 to 100 of 203

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STX16, STX16-NPEPL1
(R133L +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
GNAS
(T154fs)
Deletion
(frameshift variant +2 more)
Pseudohypoparathyroidism type 1B
GLikely pathogenic
GNAS
Microsatellite
(stop lost +3 more)
Pseudohypoparathyroidism type 1B
+1 more
GUncertain significance
GNAS
(K567Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type 1B
+1 more
GUncertain significance
GNAS
(K667E)
Single nucleotide variant
(synonymous variant +2 more)
Pseudohypoparathyroidism type 1C
+3 more
GUncertain significance
GNAS, GNAS-AS1
(R3G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1C
+3 more
GConflicting classifications of pathogenicity
GNAS
Single nucleotide variant
(intron variant)
Pseudohypoparathyroidism type 1B
GUncertain significance
GNAS
(D250N)
Single nucleotide variant
(synonymous variant +2 more)
Pseudohypoparathyroidism type 1C
+4 more
GUncertain significance
GNAS-AS1, GNAS
(E205K)
Single nucleotide variant
(5 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1C
+3 more
GUncertain significance
GNAS
(R600C)
Single nucleotide variant
(synonymous variant +2 more)
Pseudohypoparathyroidism type 1C
+3 more
GUncertain significance
GNAS
(A263T)
Single nucleotide variant
(synonymous variant +2 more)
Pseudohypoparathyroidism type 1C
+3 more
GUncertain significance
GNAS
(T502P +1 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type 1C
+3 more
GUncertain significance
GNAS
(D236G +1 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type 1C
+5 more
GConflicting classifications of pathogenicity
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)
Pseudopseudohypoparathyroidism
+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)
not provided
+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
(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)
ACTH-independent macronodular adrenal hyperplasia 1
+9 more
GLikely benign
GNAS, GNAS-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
ACTH-independent macronodular adrenal hyperplasia 1
+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)
not provided
+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)
Pseudohypoparathyroidism type 1B
+8 more
GUncertain significance
GNAS
(R228C +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type 1B
+2 more
GPathogenic/Likely pathogenic
GNAS
(Q180*)
Single nucleotide variant
(synonymous variant +2 more)
GNAS-related disorder
+8 more
GUncertain significance
GNAS
Duplication
Cushing syndrome
+7 more
GPathogenic
GNAS
(R273L)
Single nucleotide variant
(missense variant +2 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Deletion
(splice acceptor variant +1 more)
Pseudohypoparathyroidism type 1B
GPathogenic
GNAS, GNAS-AS1
(S121F)
Single nucleotide variant
(5 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
GNAS
(A426P)
Single nucleotide variant
(intron variant +3 more)
Pseudohypoparathyroidism type 1C
+8 more
GConflicting classifications of pathogenicity
GNAS
(L84fs +5 more)
Deletion
(frameshift variant +1 more)
Pseudohypoparathyroidism type 1B
GPathogenic
GNAS
(P379L)
Single nucleotide variant
(missense variant +2 more)
Pseudohypoparathyroidism type 1C
+7 more
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GBenign
STX16, STX16-NPEPL1
(E131K +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pseudohypoparathyroidism type 1B
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(non-coding transcript variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16-NPEPL1, STX16
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GLikely benign
STX16, STX16-NPEPL1
Single nucleotide variant
(non-coding transcript variant +2 more)
Pseudohypoparathyroidism type 1B
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(non-coding transcript variant +2 more)
Pseudohypoparathyroidism type 1B
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
(A275V +4 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
(I240L +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
(R219W +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pseudohypoparathyroidism type 1B
GBenign
STX16, STX16-NPEPL1
Single nucleotide variant
(non-coding transcript variant +2 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(non-coding transcript variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
(F177S +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
STX16, STX16-NPEPL1
(V145L +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pseudohypoparathyroidism type 1B
GUncertain significance
GNAS
Single nucleotide variant
(intron variant +1 more)
Pseudohypoparathyroidism type 1B
+1 more
GPathogenic
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)
Inborn genetic diseases
+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 1C
+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
STX16, STX16-NPEPL1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 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
STX16, STX16-NPEPL1
Single nucleotide variant
(non-coding transcript variant +1 more)
Pseudohypoparathyroidism type 1B
+1 more
GBenign/Likely benign
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