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Items: 1 to 100 of 953

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006205, LOC130006206
+282 more
Copy number loss
See cases
GPathogenic
RIN1, RPS6KB2
+212 more
Copy number gain
See cases
GPathogenic
ACY3, AIP
+129 more
Copy number loss
See cases
GPathogenic
ACY3, AIP
+206 more
Copy number loss
See cases
GLikely pathogenic
ACY3, AIP
+54 more
Copy number loss
See cases
GBenign
ACY3, AIP
+98 more
Copy number loss
See cases
GPathogenic
LOC130006206, LOC130006207
+3 more
Deletion
(genic upstream transcript variant)
Somatotroph adenoma
GLikely pathogenic
AIP
Duplication
(genic upstream transcript variant)
not provided
GBenign
AIP, LOC130006204
Indel
not provided
GUncertain significance
AIP, LOC130006204
Single nucleotide variant
not provided
GUncertain significance
AIP, LOC130006204
Single nucleotide variant
not provided
GLikely benign
AIP
Single nucleotide variant
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
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
AIP
Single nucleotide variant
(5 prime UTR variant)
Somatotroph adenoma
GUncertain significance
AIP
Single nucleotide variant
(5 prime UTR variant)
Somatotroph adenoma
Gnot provided
AIP
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
AIP
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
AIP
Single nucleotide variant
(5 prime UTR variant)
Somatotroph adenoma
GUncertain significance
AIP
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AIP
(M1I)
Single nucleotide variant
(missense variant +1 more)
Familial isolated pituitary adenoma
GLikely pathogenic
AIP
(A2fs)
Insertion
(frameshift variant)
Somatotroph adenoma
Gnot provided
AIP
(A2P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AIP
(A2G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
AIP
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
AIP
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
AIP
(I4V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
AIP
(I4F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AIP
(I4T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AIP
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
AIP
(I4M)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
AIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AIP
(A6T)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
GUncertain significance
AIP
(A6S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
AIP
(A6V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AIP
(A6E)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
AIP
(L8R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
AIP
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
AIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AIP
(R9W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AIP
(R9L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
AIP
(R9Q)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
+4 more
GConflicting classifications of pathogenicity
AIP
(E10K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AIP
(E10G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AIP
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
AIP
(D11Y)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
AIP
(D11E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AIP
(G12R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AIP
(G12A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AIP
(G12E)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
AIP
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
AIP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
AIP
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
AIP
(I13V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
AIP
(I13N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
AIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AIP
(Q14*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
AIP
(Q14fs)
Deletion
(frameshift variant)
not provided
GPathogenic
AIP
(Q14P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AIP
(K15N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AIP
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
AIP
(R16C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AIP
(R16H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
AIP
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
AIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AIP
(I18T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
AIP
(Q19R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AIP
(Q19H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AIP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
AIP
(E20K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AIP
(G21S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AIP
(G21D)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
AIP
(G21A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AIP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
AIP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
AIP
(R22*)
Single nucleotide variant
(nonsense)
Somatotroph adenoma
GPathogenic
AIP
(R22Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AIP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AIP
Deletion
(inframe_deletion)
Somatotroph adenoma
GPathogenic
AIP
(G23E)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
AIP
(E24K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AIP
(E24Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
AIP
(E24*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
AIP
(E24D)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GBenign/Likely benign
AIP
(L25V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AIP
(L25F)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
+2 more
GUncertain significance
AIP
Indel
Somatotroph adenoma
GLikely pathogenic
AIP
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
GLikely benign
AIP
(P26A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AIP
(P26L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AIP
(P26R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AIP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
AIP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
AIP
(D27H)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
+2 more
GUncertain significance
AIP
(D27A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
AIP
(D27E)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
AIP
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
AIP
(F28L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
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