"New York Genome Center"[submitter] AND "POMC"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13356	NM_000939.4(POMC):c.706C>G (p.Arg236Gly)	POMC (R236G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 420163	NM_000939.4(POMC):c.599_604dup (p.Ala201_Gln202insArgAla)	POMC	Duplication (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 716681	NM_000939.4(POMC):c.583G>A (p.Ala195Thr)	POMC (A195T)	Single nucleotide variant (missense variant)	Obesity due to pro-opiomelanocortin deficiency +3 more	GConflicting classifications of pathogenicity
Select item 594219	NM_000939.4(POMC):c.280AGCAGCGGC[4] (p.94SSG[4])	POMC	Microsatellite (inframe_insertion)	Obesity due to pro-opiomelanocortin deficiency +2 more	GUncertain significance
Select item 335357	NM_000939.4(POMC):c.158A>G (p.Asp53Gly)	LOC129933280, POMC (D53G)	Single nucleotide variant (missense variant)	Obesity +2 more	GConflicting classifications of pathogenicity
Select item 983342	NM_000939.4(POMC):c.26C>T (p.Ser9Leu)	POMC (S9L)	Single nucleotide variant (missense variant)	Obesity due to pro-opiomelanocortin deficiency	GUncertain significance
Select item 2584571	NM_000939.4(POMC):c.-20-675A>G	POMC	Single nucleotide variant (intron variant)	Obesity due to pro-opiomelanocortin deficiency +1 more	GUncertain significance
Select item 2502150	NM_000939.4(POMC):c.-21+8C>A	LOC108167315, POMC	Single nucleotide variant (intron variant)	Inherited obesity	GUncertain significance