POMC[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 147963	GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1	ABHD1, ADGRF3 +142 more	Copy number loss	See cases	GUncertain significance
Select item 154924	GRCh38/hg38 2p23.3(chr2:25113266-25618499)x3	DNMT3A, DTNB +56 more	Copy number gain	See cases	GUncertain significance
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 335352	NM_000939.4(POMC):c.*63C>T	POMC	Single nucleotide variant (3 prime UTR 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 3344181	NM_000939.4(POMC):c.*10G>T	POMC	Single nucleotide variant (3 prime UTR variant)	POMC-related disorder	GLikely benign
Select item 3357529	NM_000939.4(POMC):c.*2G>A	POMC	Single nucleotide variant (3 prime UTR variant)	POMC-related disorder	GLikely benign
Select item 898575	NM_000939.4(POMC):c.801G>A (p.Glu267=)	POMC	Single nucleotide variant (synonymous variant)	Obesity due to pro-opiomelanocortin deficiency +1 more	GUncertain significance
Select item 1567506	NM_000939.4(POMC):c.798C>T (p.Gly266=)	POMC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3030401	NM_000939.4(POMC):c.795G>A (p.Lys265=)	POMC	Single nucleotide variant (synonymous variant)	POMC-related disorder	GLikely benign
Select item 3353925	NM_000939.4(POMC):c.756G>T (p.Thr252=)	POMC	Single nucleotide variant (synonymous variant)	POMC-related disorder	GLikely benign
Select item 3352297	NM_000939.4(POMC):c.755C>T (p.Thr252Met)	POMC (T252M)	Single nucleotide variant (missense variant)	POMC-related disorder	GUncertain significance
Select item 2059980	NM_000939.4(POMC):c.745C>T (p.Pro249Ser)	POMC (P249S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3354379	NM_000939.4(POMC):c.740del (p.Gln247fs)	POMC (Q247fs)	Deletion (frameshift variant)	POMC-related disorder	GUncertain significance
Select item 596635	NM_000939.4(POMC):c.730G>C (p.Glu244Gln)	POMC (E244Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3055667	NM_000939.4(POMC):c.729C>T (p.Ser243=)	POMC	Single nucleotide variant (synonymous variant)	POMC-related disorder	GLikely benign
Select item 2079912	NM_000939.4(POMC):c.716G>A (p.Gly239Asp)	POMC (G239D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501879	NM_000939.4(POMC):c.710A>G (p.Tyr237Cys)	POMC (Y237C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1935298	NM_000939.4(POMC):c.693G>A (p.Pro231=)	POMC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3351501	NM_000939.4(POMC):c.692C>T (p.Pro231Leu)	POMC (P231L)	Single nucleotide variant (missense variant)	POMC-related disorder	GUncertain significance
Select item 3357963	NM_000939.4(POMC):c.675C>T (p.His225=)	POMC	Single nucleotide variant (synonymous variant)	POMC-related disorder	GLikely benign
Select item 2628923	NM_000939.4(POMC):c.668T>C (p.Met223Thr)	POMC (M223T)	Single nucleotide variant (missense variant)	POMC-related disorder	GUncertain significance
Select item 3348151	NM_000939.4(POMC):c.663C>T (p.Tyr221=)	POMC	Single nucleotide variant (synonymous variant)	POMC-related disorder	GLikely benign
Select item 898576	NM_000939.4(POMC):c.662A>G (p.Tyr221Cys)	POMC (Y221C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3029669	NM_000939.4(POMC):c.643AAG[1] (p.Lys216del)	POMC (K216del)	Microsatellite	POMC-related disorder	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 211936	NM_000939.4(POMC):c.641A>G (p.Glu214Gly)	POMC (E214G)	Single nucleotide variant (missense variant)	not provided +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)	not provided +2 more	GUncertain significance
Select item 3354871	NM_000939.4(POMC):c.635C>T (p.Ala212Val)	POMC (A212V)	Single nucleotide variant (missense variant)	POMC-related disorder	GUncertain significance
Select item 3350054	NM_000939.4(POMC):c.629T>C (p.Leu210Pro)	POMC (L210P)	Single nucleotide variant (missense variant)	POMC-related disorder	GUncertain significance
Select item 2634265	NM_000939.4(POMC):c.626T>C (p.Leu209Pro)	POMC (L209P)	Single nucleotide variant (missense variant)	POMC-related disorder	GUncertain significance
Select item 746351	NM_000939.4(POMC):c.618G>A (p.Glu206=)	POMC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 381722	NM_000939.4(POMC):c.616G>T (p.Glu206Ter)	POMC (E206*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 420163	NM_000939.4(POMC):c.599_604dup (p.Ala201_Gln202insArgAla)	POMC	Duplication (inframe_insertion)	not provided +2 more	GUncertain significance
Select item 2634459	NM_000939.4(POMC):c.602C>T (p.Ala201Val)	POMC (A201V)	Single nucleotide variant (missense variant)	POMC-related disorder	GUncertain significance
Select item 2549523	NM_000939.4(POMC):c.599G>T (p.Gly200Val)	POMC (G200V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2003812	NM_000939.4(POMC):c.599G>A (p.Gly200Glu)	POMC (G200E)	Single nucleotide variant (missense variant)	not provided	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 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 2634648	NM_000939.4(POMC):c.573del (p.Asp192fs)	POMC (D192fs)	Deletion (frameshift variant)	POMC-related disorder	GUncertain significance
Select item 3216725	NM_000939.4(POMC):c.557G>T (p.Arg186Leu)	POMC (R186L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1984779	NM_000939.4(POMC):c.557G>A (p.Arg186Gln)	POMC (R186Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3348947	NM_000939.4(POMC):c.556C>T (p.Arg186Trp)	POMC (R186W)	Single nucleotide variant (missense variant)	POMC-related disorder	GUncertain significance
Select item 3357416	NM_000939.4(POMC):c.534G>A (p.Arg178=)	POMC	Single nucleotide variant (synonymous variant)	POMC-related disorder	GLikely benign
Select item 3043975	NM_000939.4(POMC):c.523G>C (p.Glu175Gln)	POMC (E175Q)	Single nucleotide variant (missense variant)	POMC-related disorder	GUncertain significance
Select item 2618213	NM_000939.4(POMC):c.518C>G (p.Pro173Arg)	POMC (P173R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3358044	NM_000939.4(POMC):c.516C>G (p.Phe172Leu)	POMC (F172L)	Single nucleotide variant (missense variant)	POMC-related disorder	GUncertain significance
Select item 3355156	NM_000939.4(POMC):c.516C>T (p.Phe172=)	POMC	Single nucleotide variant (synonymous variant)	POMC-related disorder	GLikely benign
Select item 3057553	NM_000939.4(POMC):c.504G>C (p.Ser168=)	POMC	Single nucleotide variant (synonymous variant)	POMC-related disorder	GLikely benign
Select item 3345648	NM_000939.4(POMC):c.502T>C (p.Ser168Pro)	POMC (S168P)	Single nucleotide variant (missense variant)	POMC-related disorder	GUncertain significance
Select item 1677671	NM_000939.4(POMC):c.499G>T (p.Glu167Ter)	POMC (E167*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 895580	NM_000939.4(POMC):c.498C>T (p.Asp166=)	POMC	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3018425	NM_000939.4(POMC):c.492C>T (p.Ala164=)	POMC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3348936	NM_000939.4(POMC):c.477_478dup (p.Tyr160fs)	POMC (Y160fs)	Microsatellite (frameshift variant)	POMC-related disorder	GUncertain significance
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 3358625	NM_000939.4(POMC):c.462G>C (p.Arg154=)	POMC	Single nucleotide variant (synonymous variant)	POMC-related disorder	GLikely benign
Select item 2249319	NM_000939.4(POMC):c.442A>G (p.Lys148Glu)	POMC (K148E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3355722	NM_000939.4(POMC):c.434G>T (p.Arg145Leu)	POMC (R145L)	Single nucleotide variant (missense variant)	POMC-related disorder	GLikely pathogenic
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 631855	NM_000939.4(POMC):c.433C>T (p.Arg145Cys)	POMC (R145C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 596626	NM_000939.4(POMC):c.430T>C (p.Phe144Leu)	POMC (F144L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3057718	NM_000939.4(POMC):c.429C>T (p.His143=)	POMC	Single nucleotide variant (synonymous variant)	POMC-related disorder	GLikely benign
Select item 451178	NM_000939.4(POMC):c.429C>G (p.His143Gln)	POMC (H143Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2978557	NM_000939.4(POMC):c.427C>T (p.His143Tyr)	POMC (H143Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3348805	NM_000939.4(POMC):c.425A>G (p.Glu142Gly)	POMC (E142G)	Single nucleotide variant (missense variant)	POMC-related disorder	GUncertain significance
Select item 666581	NM_000939.4(POMC):c.416dup (p.Tyr139Ter)	POMC (Y139*)	Duplication (nonsense)	Obesity due to pro-opiomelanocortin deficiency	GPathogenic
Select item 1810745	NM_000939.4(POMC):c.416A>G (p.Tyr139Cys)	POMC (Y139C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3357744	NM_000939.4(POMC):c.403G>A (p.Gly135Ser)	POMC (G135S)	Single nucleotide variant (missense variant)	POMC-related disorder	GUncertain significance
Select item 500149	NM_000939.4(POMC):c.399C>T (p.Arg133=)	POMC	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 896986	NM_000939.4(POMC):c.394C>G (p.Pro132Ala)	POMC (P132A)	Single nucleotide variant (missense variant)	Obesity due to pro-opiomelanocortin deficiency +3 more	GConflicting classifications of pathogenicity
Select item 2543763	NM_000939.4(POMC):c.389C>T (p.Pro130Leu)	POMC (P130L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216724	NM_000939.4(POMC):c.383C>T (p.Ala128Val)	POMC (A128V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3352208	NM_000939.4(POMC):c.379G>T (p.Gly127Cys)	POMC (G127C)	Single nucleotide variant (missense variant)	POMC-related disorder	GUncertain significance
Select item 3348778	NM_000939.4(POMC):c.357C>T (p.Gly119=)	POMC	Single nucleotide variant (synonymous variant)	POMC-related disorder	GLikely benign
Select item 728820	NM_000939.4(POMC):c.346C>T (p.Leu116=)	POMC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 3345742	NM_000939.4(POMC):c.343C>G (p.Pro115Ala)	POMC (P115A)	Single nucleotide variant (missense variant)	POMC-related disorder	GUncertain significance
Select item 2252493	NM_000939.4(POMC):c.334G>T (p.Asp112Tyr)	POMC (D112Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3356162	NM_000939.4(POMC):c.327G>T (p.Ala109=)	POMC	Single nucleotide variant (synonymous variant)	POMC-related disorder	GLikely benign
Select item 3344948	NM_000939.4(POMC):c.321C>T (p.Val107=)	POMC	Single nucleotide variant (synonymous variant)	POMC-related disorder	GLikely benign
Select item 3357082	NM_000939.4(POMC):c.318C>T (p.Asp106=)	POMC	Single nucleotide variant (synonymous variant)	POMC-related disorder	GLikely benign
Select item 1677425	NM_000939.4(POMC):c.314A>G (p.Glu105Gly)	POMC (E105G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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
Select item 3058717	NM_000939.4(POMC):c.312C>T (p.Arg104=)	POMC	Single nucleotide variant (synonymous variant)	POMC-related disorder	GLikely benign
Select item 2281328	NM_000939.4(POMC):c.310C>A (p.Arg104Ser)	POMC (R104S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3354335	NM_000939.4(POMC):c.302G>C (p.Gly101Ala)	POMC (G101A)	Single nucleotide variant (missense variant)	POMC-related disorder	GUncertain significance
Select item 1969856	NM_000939.4(POMC):c.299C>G (p.Ala100Gly)	POMC (A100G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167896	NM_000939.4(POMC):c.280AGCAGCGGC[11] (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)	POMC	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2146580	NM_000939.4(POMC):c.280AGCAGCGGC[12] (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)	POMC	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1319356	NM_000939.4(POMC):c.297_298insA (p.Ala100fs)	POMC (A100fs)	Insertion (frameshift variant)	not provided	GUncertain significance

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