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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POMC
(E244Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POMC
(F144L)
Single nucleotide variant
(missense variant)
POMC-related condition
+1 more
GUncertain significance
POMC
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
POMC
Microsatellite
(inframe_insertion)
not provided
+2 more
GUncertain significance
POMC
Microsatellite
(inframe_insertion)
Monogenic Non-Syndromic Obesity
+3 more
GBenign/Likely benign
POMC
(W84*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
POMC
(K76fs)
Deletion
(frameshift variant)
not provided
GPathogenic
POMC
(Q19*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
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