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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POMC
Single nucleotide variant
(3 prime UTR variant)
Obesity
+2 more
GBenign
POMC
(Y237C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POMC
(R236G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
POMC
(Y221C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
POMC
(E214G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
POMC
(E206*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
POMC
Duplication
(inframe_insertion)
not provided
+2 more
GUncertain significance
POMC
Single nucleotide variant
(synonymous variant)
Obesity
+2 more
GBenign
POMC
(A195T)
Single nucleotide variant
(missense variant)
Obesity due to pro-opiomelanocortin deficiency
+3 more
GConflicting classifications of pathogenicity
POMC
(R145C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
POMC
(H143Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
POMC
(Y139C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POMC
(P132A)
Single nucleotide variant
(missense variant)
Obesity due to pro-opiomelanocortin deficiency
+3 more
GConflicting classifications of pathogenicity
POMC
Microsatellite
(inframe_insertion)
not specified
+3 more
GBenign/Likely benign
POMC
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
POMC
(P74H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129933280, POMC
(E57K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POMC
Single nucleotide variant
(intron variant)
not provided
GBenign
POMC
Single nucleotide variant
(intron variant)
not provided
GBenign
POMC
Single nucleotide variant
(intron variant)
not provided
GBenign
POMC
Insertion
(intron variant)
not provided
GBenign
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