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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USP8
(P597H +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+1 more
GUncertain significance
AIP
(R262C)
Single nucleotide variant
(synonymous variant +1 more)
Pituitary dependent hypercortisolism
+3 more
GLikely benign
AIP
(A136S +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MEN1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
AIP
(R119W +1 more)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
+3 more
GUncertain significance
AIP
(A276V +1 more)
Single nucleotide variant
(missense variant +1 more)
Somatotroph adenoma
+4 more
GConflicting classifications of pathogenicity
AIP
(R9Q)
Single nucleotide variant
(missense variant)
Somatotroph adenoma
+4 more
GConflicting classifications of pathogenicity
USP8
(P720R +1 more)
Single nucleotide variant
(missense variant)
Pituitary dependent hypercortisolism
GPathogenic
USP8
(Y717C +3 more)
Single nucleotide variant
(missense variant)
Pituitary dependent hypercortisolism
GPathogenic
USP8
(S718C +1 more)
Single nucleotide variant
(missense variant)
Pituitary dependent hypercortisolism
GPathogenic
USP8
(S718P +1 more)
Single nucleotide variant
(missense variant)
Pituitary dependent hypercortisolism
GPathogenic
USP8
(S719del +1 more)
Microsatellite
(inframe_deletion)
Pituitary dependent hypercortisolism
GPathogenic
GNAI2
(R179G +4 more)
Single nucleotide variant
(missense variant)
Pituitary dependent hypercortisolism
GPathogenic
AIP
(R304Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
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