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Links from MedGen

Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POMC
Single nucleotide variant
(intron variant)
Obesity due to pro-opiomelanocortin deficiency
+1 more
GUncertain significance
LOC108167315, POMC
Single nucleotide variant
(splice donor variant)
Obesity due to pro-opiomelanocortin deficiency
GPathogenic
POMC
(R145H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
POMC
Single nucleotide variant
(synonymous variant)
Obesity
+1 more
GUncertain significance
POMC
(Y221C)
Single nucleotide variant
(missense variant)
Obesity
+3 more
GConflicting classifications of pathogenicity
POMC
Single nucleotide variant
(synonymous variant)
Obesity
+2 more
GConflicting classifications of pathogenicity
POMC
(T39M)
Single nucleotide variant
(missense variant)
POMC-related disorder
+2 more
GUncertain significance
POMC
(S95G)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
POMC
(P132A)
Single nucleotide variant
(missense variant)
Obesity
+4 more
GConflicting classifications of pathogenicity
LOC108167315, POMC
Single nucleotide variant
Obesity
+1 more
GUncertain significance
POMC
(A164V)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
POMC
Single nucleotide variant
(synonymous variant)
Obesity
+2 more
GConflicting classifications of pathogenicity
POMC
(A213V)
Single nucleotide variant
(missense variant)
Obesity
+2 more
GUncertain significance
POMC
(A195T)
Single nucleotide variant
(missense variant)
Obesity due to pro-opiomelanocortin deficiency
+4 more
GConflicting classifications of pathogenicity
POMC
(F87L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
POMC
(C28*)
Single nucleotide variant
(nonsense)
Obesity due to pro-opiomelanocortin deficiency
GPathogenic
POMC
(Y139*)
Duplication
(nonsense)
Obesity due to pro-opiomelanocortin deficiency
GPathogenic
POMC
(R145C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
POMC
Microsatellite
(inframe_insertion)
Inherited obesity
+2 more
GUncertain significance
POMC
Insertion
Obesity due to pro-opiomelanocortin deficiency
GPathogenic
POMC
(H143Q)
Single nucleotide variant
(missense variant)
Obesity
+3 more
GUncertain significance
LOC129933280, POMC
Single nucleotide variant
(splice acceptor variant)
Obesity due to pro-opiomelanocortin deficiency
GPathogenic
LOC108167315, POMC
Single nucleotide variant
Obesity
+1 more
GConflicting classifications of pathogenicity
POMC
Single nucleotide variant
(intron variant)
Obesity
+1 more
GUncertain significance
POMC
Single nucleotide variant
(intron variant)
Obesity
+1 more
GUncertain significance
POMC
(P2S)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
POMC
Single nucleotide variant
(synonymous variant)
Obesity
+2 more
GConflicting classifications of pathogenicity
LOC129933280, POMC
(D53G)
Single nucleotide variant
(missense variant)
Obesity
+3 more
GConflicting classifications of pathogenicity
POMC
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
POMC
(K158N)
Single nucleotide variant
(missense variant)
Obesity
+1 more
GUncertain significance
POMC
Single nucleotide variant
(synonymous variant)
Obesity
+2 more
GBenign
POMC
Deletion
(3 prime UTR variant)
Monogenic Non-Syndromic Obesity
+1 more
GUncertain significance
POMC
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
POMC
Single nucleotide variant
(3 prime UTR variant)
Obesity
+1 more
GUncertain significance
POMC
Microsatellite
(inframe_insertion)
not specified
+3 more
GBenign/Likely benign
POMC
Deletion
Obesity due to pro-opiomelanocortin deficiency
GPathogenic
LOC129933280, POMC
(K51*)
Single nucleotide variant
(nonsense)
Obesity due to pro-opiomelanocortin deficiency
GPathogenic
POMC
(K136fs)
Duplication
(frameshift variant)
Obesity due to pro-opiomelanocortin deficiency
GPathogenic
POMC
(R236G)
Single nucleotide variant
(missense variant)
Obesity due to pro-opiomelanocortin deficiency
+3 more
GConflicting classifications of pathogenicity
POMC
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GPathogenic
POMC
(R145fs)
Deletion
(frameshift variant)
Obesity due to pro-opiomelanocortin deficiency
GPathogenic
POMC
(E105*)
Single nucleotide variant
(nonsense)
Obesity due to pro-opiomelanocortin deficiency
GPathogenic
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