ClinVar for MedGen (Select 341863) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1706561	NM_000939.4(POMC):c.-21+1G>A	LOC108167315, POMC	Single nucleotide variant (splice donor variant)	Obesity due to pro-opiomelanocortin deficiency	GPathogenic
Select item 1368345	NM_000939.4(POMC):c.434G>A (p.Arg145His)	POMC (R145H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 898577	NM_000939.4(POMC):c.642G>A (p.Glu214=)	POMC	Single nucleotide variant (synonymous variant)	Obesity +1 more	GUncertain significance
Select item 898576	NM_000939.4(POMC):c.662A>G (p.Tyr221Cys)	POMC (Y221C)	Single nucleotide variant (missense variant)	POMC-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 898575	NM_000939.4(POMC):c.801G>A (p.Glu267=)	POMC	Single nucleotide variant (synonymous variant)	POMC-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 897472	NM_000939.4(POMC):c.116C>T (p.Thr39Met)	POMC (T39M)	Single nucleotide variant (missense variant)	POMC-related disorder +3 more	GUncertain significance
Select item 896987	NM_000939.4(POMC):c.283A>G (p.Ser95Gly)	POMC (S95G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 896986	NM_000939.4(POMC):c.394C>G (p.Pro132Ala)	POMC (P132A)	Single nucleotide variant (missense variant)	POMC-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 895643	NM_001035256.2(POMC):c.-263C>A	LOC108167315, POMC	Single nucleotide variant	Obesity +1 more	GUncertain significance
Select item 895581	NM_000939.4(POMC):c.491C>T (p.Ala164Val)	POMC (A164V)	Single nucleotide variant (missense variant)	Obesity +1 more	GUncertain significance
Select item 895580	NM_000939.4(POMC):c.498C>T (p.Asp166=)	POMC	Single nucleotide variant (synonymous variant)	Obesity +2 more	GConflicting classifications of pathogenicity
Select item 895579	NM_000939.4(POMC):c.638C>T (p.Ala213Val)	POMC (A213V)	Single nucleotide variant (missense variant)	Obesity +2 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 +4 more	GConflicting classifications of pathogenicity
Select item 710881	NM_000939.4(POMC):c.261C>A (p.Phe87Leu)	POMC (F87L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 666582	NM_000939.4(POMC):c.84C>A (p.Cys28Ter)	POMC (C28*)	Single nucleotide variant (nonsense)	Obesity due to pro-opiomelanocortin deficiency	GPathogenic
Select item 666581	NM_000939.4(POMC):c.416dup (p.Tyr139Ter)	POMC (Y139*)	Duplication (nonsense)	Obesity due to pro-opiomelanocortin deficiency	GPathogenic
Select item 631855	NM_000939.4(POMC):c.433C>T (p.Arg145Cys)	POMC (R145C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 594219	NM_000939.4(POMC):c.280AGCAGCGGC[4] (p.94SSG[4])	POMC	Microsatellite (inframe_insertion)	Inherited obesity +2 more	GUncertain significance
Select item 492966	POMC, 1-BP INS, 6922C	POMC	Insertion	Obesity due to pro-opiomelanocortin deficiency	GPathogenic
Select item 451178	NM_000939.4(POMC):c.429C>G (p.His143Gln)	POMC (H143Q)	Single nucleotide variant (missense variant)	POMC-related disorder +3 more	GUncertain significance
Select item 436364	NM_000939.4(POMC):c.133-2A>C	LOC129933280, POMC	Single nucleotide variant (splice acceptor variant)	Obesity due to pro-opiomelanocortin deficiency	GPathogenic
Select item 335362	NM_001035256.2(POMC):c.-203A>G	LOC108167315, POMC	Single nucleotide variant	Obesity +1 more	GConflicting classifications of pathogenicity
Select item 335361	NM_000939.4(POMC):c.-20-906C>T	POMC	Single nucleotide variant (intron variant)	Obesity +1 more	GUncertain significance
Select item 335360	NM_000939.4(POMC):c.-20-904T>C	POMC	Single nucleotide variant (intron variant)	Obesity +1 more	GUncertain significance
Select item 335359	NM_000939.4(POMC):c.4C>T (p.Pro2Ser)	POMC (P2S)	Single nucleotide variant (missense variant)	Obesity +1 more	GUncertain significance
Select item 335358	NM_000939.4(POMC):c.18C>T (p.Cys6=)	POMC	Single nucleotide variant (synonymous variant)	Obesity due to pro-opiomelanocortin deficiency +2 more	GConflicting classifications of pathogenicity
Select item 335357	NM_000939.4(POMC):c.158A>G (p.Asp53Gly)	LOC129933280, POMC (D53G)	Single nucleotide variant (missense variant)	Obesity +3 more	GConflicting classifications of pathogenicity
Select item 335356	NM_000939.4(POMC):c.282C>T (p.Ser94=)	POMC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 335355	NM_000939.4(POMC):c.474G>T (p.Lys158Asn)	POMC (K158N)	Single nucleotide variant (missense variant)	Obesity +1 more	GUncertain significance
Select item 335354	NM_000939.4(POMC):c.585C>T (p.Ala195=)	POMC	Single nucleotide variant (synonymous variant)	Obesity +2 more	GBenign
Select item 335353	NM_000939.4(POMC):c.*28del	POMC	Deletion (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 335352	NM_000939.4(POMC):c.*63C>T	POMC	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 335351	NM_000939.4(POMC):c.*120A>G	POMC	Single nucleotide variant (3 prime UTR variant)	Obesity +1 more	GUncertain significance
Select item 211935	NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3])	POMC	Microsatellite (inframe_insertion)	not provided +3 more	GBenign/Likely benign
Select item 13359	POMC, 1-BP DEL, NT6996	POMC	Deletion	Obesity due to pro-opiomelanocortin deficiency	GPathogenic
Select item 13358	NM_000939.4(POMC):c.151A>T (p.Lys51Ter)	LOC129933280, POMC (K51*)	Single nucleotide variant (nonsense)	Obesity due to pro-opiomelanocortin deficiency	GPathogenic
Select item 13357	NM_000939.4(POMC):c.403_404dup (p.Lys136fs)	POMC (K136fs)	Duplication (frameshift variant)	Obesity due to pro-opiomelanocortin deficiency	GPathogenic
Select item 13356	NM_000939.4(POMC):c.706C>G (p.Arg236Gly)	POMC (R236G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 13355	NM_000939.4(POMC):c.-11C>A	POMC	Single nucleotide variant (5 prime UTR variant)	Obesity +2 more	GPathogenic
Select item 13354	NM_000939.4(POMC):c.433del (p.Arg145fs)	POMC (R145fs)	Deletion (frameshift variant)	Obesity due to pro-opiomelanocortin deficiency	GPathogenic
Select item 13353	NM_000939.4(POMC):c.313G>T (p.Glu105Ter)	POMC (E105*)	Single nucleotide variant (nonsense)	Obesity due to pro-opiomelanocortin deficiency	GPathogenic

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Items: 42