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Links from MedGen

Items: 1 to 100 of 168

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AIP
(A140D +1 more)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
GUncertain significance
AIP
(C121F +1 more)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
GUncertain significance
AIP
(I5V)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
GUncertain significance
AIP
(G280fs +2 more)
Duplication
(frameshift variant)
Somatotroph adenoma
GLikely pathogenic
AIP
Single nucleotide variant
(synonymous variant)
Somatotroph adenoma
+1 more
GUncertain significance
AIP
Deletion
(inframe deletion)
Somatotroph adenoma
GLikely pathogenic
AIP
(Q158E +1 more)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
GUncertain significance
AIP
(E234D +1 more)
Single nucleotide variant
(missense variant +1 more)
Somatotroph adenoma
GUncertain significance
AIP
(A6T)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
GUncertain significance
AIP
(F210L +2 more)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
GUncertain significance
AIP
(P237Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Somatotroph adenoma
GUncertain significance
AIP
(K116Q +1 more)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
+1 more
GUncertain significance
AIP
Deletion
(nonsense)
Somatotroph adenoma
GLikely pathogenic
AIP, LOC130006206
(T20I +1 more)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
+2 more
GUncertain significance
AIP
(D258G +1 more)
Single nucleotide variant
(missense variant +1 more)
Somatotroph adenoma
+1 more
GUncertain significance
AIP
(P180Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
AIP
(S100N +1 more)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
+2 more
GConflicting classifications of pathogenicity
LOC130006206, AIP
(M80L +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
AIP, LOC130006206
(G47D)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
AIP
(R262C)
Single nucleotide variant
(synonymous variant +1 more)
Pituitary dependent hypercortisolism
+3 more
GLikely benign
AIP
(D27H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
AIP
(N107D +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
AIP
(R255Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Somatotroph adenoma
+2 more
GUncertain significance
AIP, LOC130006206
(A55V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Somatotroph adenoma
+2 more
GConflicting classifications of pathogenicity
AIP
(A119T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AIP, LOC130006206
(Q28H +1 more)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
+2 more
GUncertain significance
AIP
(P145A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AIP
(A140V +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
AIP
(R253Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Somatotroph adenoma
+2 more
GConflicting classifications of pathogenicity
AIP
(L25F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
AIP
(D262N +1 more)
Single nucleotide variant
(missense variant +1 more)
Somatotroph adenoma
+2 more
GUncertain significance
AIP
Single nucleotide variant
(5 prime UTR variant)
Somatotroph adenoma
GUncertain significance
AIP, LOC130006206
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
AIP, LOC130006206
(R56C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Somatotroph adenoma
+2 more
GUncertain significance
AIP, LOC130006206
(R39W)
Single nucleotide variant
(5 prime UTR variant +1 more)
Somatotroph adenoma
+2 more
GUncertain significance
AIP
(R60Q +1 more)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
+2 more
GUncertain significance
AIP
(E190K +1 more)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
+2 more
GUncertain significance
AIP
(D80Y +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
AIP
(Y202C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
AIP
(E186K +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
AIP
(V184L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
AIP
(E24Q)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
+2 more
GUncertain significance
AIP
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GLikely benign
AIP
(R191C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
AIP
(R188Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
AIP
(T162M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
AIP
(E158D +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
AIP
(A136S +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
AIP
(H135Y +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
AIP
(M127V +1 more)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
+2 more
GUncertain significance
AIP
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+2 more
GBenign/Likely benign
AIP
(R266Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
AIP
(R266W +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
AIP
(A109V +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
AIP
(D258Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
AIP
(S303N +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
LOC130006206, AIP
(K69E +1 more)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
+2 more
GConflicting classifications of pathogenicity
AIP, LOC130006206
(R54Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
AIP, LOC130006206
(R54W)
Single nucleotide variant
(5 prime UTR variant +1 more)
Somatotroph adenoma
+2 more
GUncertain significance
AIP, LOC130006206
(D51N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Somatotroph adenoma
+2 more
GUncertain significance
AIP, LOC130006206
Single nucleotide variant
(5 prime UTR variant +1 more)
Somatotroph adenoma
+2 more
GBenign/Likely benign
LOC130006206, AIP
(G47S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
AIP, LOC130006206
(E46K)
Single nucleotide variant
(5 prime UTR variant +1 more)
Somatotroph adenoma
+2 more
GUncertain significance
LOC130006206, AIP
(R39Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
AIP
(T172M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
AIP
(R119W +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
AIP
(R191H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
AIP
Single nucleotide variant
(synonymous variant)
Somatotroph adenoma
+2 more
GLikely benign
AIP
(R323W +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
AIP
(R106C +1 more)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
+2 more
GUncertain significance
LOC130006206, AIP
(T35M)
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
AIP
(A276V +1 more)
Single nucleotide variant
(missense variant +1 more)
Acroleukopathy, symmetric
+4 more
GConflicting classifications of pathogenicity
AIP
(R128C +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
AIP
(R9Q)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
+4 more
GConflicting classifications of pathogenicity
MEN1
Single nucleotide variant
(3 prime UTR variant)
Somatotroph adenoma
GLikely pathogenic
MEN1
Single nucleotide variant
(stop lost)
Somatotroph adenoma
GPathogenic
Somatotroph adenoma
GLikely pathogenic
Somatotroph adenoma
GLikely pathogenic
GNAS
(P423H)
Single nucleotide variant
(missense variant +2 more)
not provided
+8 more
GBenign/Likely benign
GNAS
(P338Q)
Single nucleotide variant
(missense variant +2 more)
Cushing syndrome
+7 more
GUncertain significance
AIP, LOC130006206
(I76V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
AIP
Single nucleotide variant
(3 prime UTR variant)
Somatotroph adenoma
GBenign
AIP
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
AIP
(Q315P +1 more)
Single nucleotide variant
(missense variant +1 more)
Somatotroph adenoma
+2 more
GUncertain significance
AIP
Single nucleotide variant
(synonymous variant +1 more)
Somatotroph adenoma
+3 more
GLikely benign
AIP
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign
AIP
Single nucleotide variant
(synonymous variant)
Somatotroph adenoma
+2 more
GBenign/Likely benign
AIP
(E173K +1 more)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
+3 more
GConflicting classifications of pathogenicity
AIP
Single nucleotide variant
(synonymous variant)
Somatotroph adenoma
+2 more
GBenign
AIP
Single nucleotide variant
(intron variant)
Somatotroph adenoma
+2 more
GUncertain significance
AIP
(V101M +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
AIP, LOC130006206
Single nucleotide variant
(5 prime UTR variant +1 more)
Somatotroph adenoma
GUncertain significance
AIP
(G23E)
Single nucleotide variant
(missense variant)
AIP-related disorder
+3 more
GConflicting classifications of pathogenicity
AIP
Single nucleotide variant
(synonymous variant)
AIP-related disorder
+3 more
GBenign/Likely benign
AIP
Single nucleotide variant
(5 prime UTR variant)
Somatotroph adenoma
GUncertain significance
AIP
Single nucleotide variant
(5 prime UTR variant)
Somatotroph adenoma
GUncertain significance
AIP
Single nucleotide variant
(5 prime UTR variant)
Somatotroph adenoma
GBenign
AIP
Single nucleotide variant
(5 prime UTR variant)
Somatotroph adenoma
GBenign
MEN1
Single nucleotide variant
(3 prime UTR variant)
Somatotroph adenoma
+3 more
GConflicting classifications of pathogenicity
AIP
Single nucleotide variant
(no sequence alteration)
Hereditary cancer-predisposing syndrome
+3 more
GBenign
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