List of variants reported as pathogenic for obesity disorder

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 83

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HGVS	dbSNP	gnomAD frequency
NM_001138.2(AGRP):c.199G>A (p.Ala67Thr)	rs5030980	0.02970
NM_003356.4(UCP3):c.824+1G>A	rs45476292	0.02748
NM_002303.6(LEPR):c.1835G>A (p.Arg612His)	rs144159890	0.00036
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)	rs121913563	0.00031
NM_005912.3(MC4R):c.757G>A (p.Val253Ile)	rs187152753	0.00014
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter)	rs13447324	0.00013
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)	rs79783591	0.00011
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr)	rs374270497	0.00010
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)	rs375168720	0.00006
NM_005912.3(MC4R):c.896C>A (p.Pro299His)	rs52804924	0.00004
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile)	rs766665118	0.00003
NM_138711.6(PPARG):c.248C>A (p.Pro83Gln)	rs1800571	0.00003
NM_032898.5(CEP19):c.232C>T (p.Arg78Ter)	rs587777230	0.00002
NM_000439.5(PCSK1):c.920C>T (p.Ser307Leu)	rs137852824	0.00001
NM_000939.4(POMC):c.-11C>A	rs753856820	0.00001
NM_000939.4(POMC):c.151A>T (p.Lys51Ter)	rs121918112	0.00001
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro)	rs376439188	0.00001
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys)	rs370479598	0.00001
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)	rs369841551	0.00001
NM_005912.3(MC4R):c.494G>A (p.Arg165Gln)	rs747681609	0.00001
NM_005912.3(MC4R):c.496G>A (p.Val166Ile)	rs942758928	0.00001
NM_005912.3(MC4R):c.838T>C (p.Phe280Leu)	rs756232889	0.00001
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp)	rs373044722	0.00001
NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter)	rs1782357136	0.00001
NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter)	rs1251713297	0.00001
46;XX;t(10;15)(q25.2;q11.2)
46;XX;t(2;10)(q22;22.3)dn
46;XX;t(2;11)(q11.2;p13)dn
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3
GRCh37/hg19 15q11.2(chr15:22765628-23300287)
GRCh37/hg19 16p11.2(chr16:29592783-30190568)
GRCh37/hg19 16p12.2(chr16:21751992-22546976)x1
GRCh37/hg19 19p13.3(chr19:3976203-4345430)
GRCh37/hg19 8p23.3-23.1(chr8:10501-7214947)x1
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)	rs80359473
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)	rs121964976
NM_000230.3(LEP):c.175G>A (p.Gly59Ser)	rs200575914
NM_000230.3(LEP):c.190C>T (p.Pro64Ser)
NM_000230.3(LEP):c.313C>T (p.Arg105Trp)	rs104894023
NM_000230.3(LEP):c.398del (p.Gly133fs)
NM_000439.5(PCSK1):c.1095+1G>A
NM_000439.5(PCSK1):c.1095+1G>T
NM_000439.5(PCSK1):c.1213C>T (p.Arg405Ter)
NM_000439.5(PCSK1):c.1350_1353del (p.Val450_Asp451insTer)
NM_000439.5(PCSK1):c.1447G>A (p.Gly483Arg)	rs137852821
NM_000439.5(PCSK1):c.238C>T (p.Arg80Ter)	rs765019354
NM_000439.5(PCSK1):c.595C>T (p.Arg199Ter)
NM_000439.5(PCSK1):c.620+4A>C	rs1580764441
NM_000439.5(PCSK1):c.638_640del (p.Ala213del)	rs137852823
NM_000439.5(PCSK1):c.748G>T (p.Glu250Ter)	rs137852822
NM_000439.5(PCSK1):c.927C>G (p.Asn309Lys)
NM_000439.5(PCSK1):c.958dup (p.Asp320fs)	rs2112419752
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)	rs1057518907
NM_000939.4(POMC):c.-21+1G>A
NM_000939.4(POMC):c.133-2A>C	rs1553400259
NM_000939.4(POMC):c.313G>T (p.Glu105Ter)	rs121918111
NM_000939.4(POMC):c.403_404dup (p.Lys136fs)	rs796065035
NM_000939.4(POMC):c.416dup (p.Tyr139Ter)	rs1573250294
NM_000939.4(POMC):c.433del (p.Arg145fs)	rs796065034
NM_000939.4(POMC):c.84C>A (p.Cys28Ter)	rs1573254045
NM_001195305.3(BBIP1):c.109C>T (p.Gln37Ter)	rs1590746439
NM_002303.6(LEPR):c.2597+1G>A	rs1474810899
NM_002303.6(LEPR):c.3268_3269dup (p.Ser1090fs)	rs1553174844
NM_002303.6(LEPR):c.464A>C (p.Tyr155Ser)	rs1557670950
NM_002693.3(POLG):c.1270_1271del (p.Leu424fs)	rs796052908
NM_005068.3(SIM1):c.616del (p.Gln206fs)	rs2114540946
NM_005912.3(MC4R):c.346_347del (p.Ser116fs)
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile)	rs1555691402
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer)	rs770293321
NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr)	rs121913562
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs)	rs193922687
NM_005912.3(MC4R):c.861T>A (p.Tyr287Ter)	rs121917829
NM_005912.3(MC4R):c.947T>G (p.Ile316Ser)	rs121913564
NM_005912.3(MC4R):c.[105C>A;110A>T]
NM_006208.3(ENPP1):c.1426C>T (p.Arg476Ter)
NM_006208.3(ENPP1):c.2375A>G (p.Asn792Ser)
NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)	rs1014959895
NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer)	rs1567499068
NM_021969.3(NR0B2):c.227del (p.Phe76fs)	rs779783209
NM_022552.5(DNMT3A):c.1647C>A (p.Cys549Ter)	rs574130689
POMC, 1-BP DEL, NT6996
POMC, 1-BP INS, 6922C
Single allele

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