LEP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	IMPDH1, AHCYL2 +106 more	Copy number gain	See cases	GLikely benign
Select item 358814	NM_000230.3(LEP):c.-39G>A	LEP, LOC106728418	Single nucleotide variant (5 prime UTR variant)	Monogenic Non-Syndromic Obesity +2 more	GBenign/Likely benign
Select item 909528	NM_000230.3(LEP):c.-14T>G	LEP	Single nucleotide variant (5 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 741430	NM_000230.3(LEP):c.15C>G (p.Thr5=)	LEP	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 358815	NM_000230.3(LEP):c.21C>T (p.Cys7=)	LEP	Single nucleotide variant (synonymous variant)	LEP-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2635971	NM_000230.3(LEP):c.22G>A (p.Gly8Arg)	LEP (G8R)	Single nucleotide variant (missense variant)	LEP-related disorder	GUncertain significance
Select item 2095005	NM_000230.3(LEP):c.24A>G (p.Gly8=)	LEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1422020	NM_000230.3(LEP):c.30G>C (p.Leu10Phe)	LEP (L10F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2026268	NM_000230.3(LEP):c.45T>C (p.Tyr15=)	LEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 910456	NM_000230.3(LEP):c.53A>G (p.Tyr18Cys)	LEP (Y18C)	Single nucleotide variant (missense variant)	Obesity due to congenital leptin deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1074122	NM_000230.3(LEP):c.73C>T (p.Gln25Ter)	LEP (Q25*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 778362	NM_000230.3(LEP):c.75A>G (p.Gln25=)	LEP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3042985	NM_000230.3(LEP):c.132C>T (p.Asp44=)	LEP	Single nucleotide variant (synonymous variant)	LEP-related disorder	GLikely benign
Select item 3052124	NM_000230.3(LEP):c.133A>G (p.Ile45Val)	LEP (I45V)	Single nucleotide variant (missense variant)	LEP-related disorder	GUncertain significance
Select item 910457	NM_000230.3(LEP):c.143C>T (p.Thr48Met)	LEP (T48M)	Single nucleotide variant (missense variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 2963137	NM_000230.3(LEP):c.144+10_144+29del	LEP	Deletion (intron variant)	not provided	GLikely benign
Select item 358816	NM_000230.3(LEP):c.144+15C>T	LEP	Single nucleotide variant (intron variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 1220903	NM_000230.3(LEP):c.145-217G>A	LEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707063	NM_000230.3(LEP):c.145-209G>T	LEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247016	NM_000230.3(LEP):c.145-152G>A	LEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211617	NM_000230.3(LEP):c.145-116G>C	LEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294302	NM_000230.3(LEP):c.145-107G>A	LEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266247	NM_000230.3(LEP):c.145-50C>T	LEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 724209	NM_000230.3(LEP):c.165G>A (p.Gln55=)	LEP	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3047910	NM_000230.3(LEP):c.174C>G (p.Thr58=)	LEP	Single nucleotide variant (synonymous variant)	LEP-related disorder	GLikely benign
Select item 2428497	NM_000230.3(LEP):c.175G>A (p.Gly59Ser)	LEP (G59S)	Single nucleotide variant (missense variant)	Obesity due to congenital leptin deficiency	GPathogenic
Select item 358817	NM_000230.3(LEP):c.181G>A (p.Asp61Asn)	LEP (D61N)	Single nucleotide variant (missense variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 2428498	NM_000230.3(LEP):c.190C>T (p.Pro64Ser)	LEP (P64S)	Single nucleotide variant (missense variant)	Obesity due to congenital leptin deficiency	GPathogenic
Select item 2474043	NM_000230.3(LEP):c.194G>T (p.Gly65Val)	LEP (G65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044720	NM_000230.3(LEP):c.204C>G (p.Pro68=)	LEP	Single nucleotide variant (synonymous variant)	LEP-related disorder	GLikely benign
Select item 358818	NM_000230.3(LEP):c.212C>A (p.Thr71Asn)	LEP (T71N)	Single nucleotide variant (missense variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 435745	NM_000230.3(LEP):c.276A>G (p.Arg92=)	LEP	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 358819	NM_000230.3(LEP):c.280G>A (p.Val94Met)	LEP (V94M)	Single nucleotide variant (missense variant)	Obesity due to congenital leptin deficiency +3 more	GBenign/Likely benign
Select item 162430	NM_000230.3(LEP):c.298G>T (p.Asp100Tyr)	LEP (D100Y)	Single nucleotide variant (missense variant)	Leptin dysfunction	GPathogenic
Select item 2735087	NM_000230.3(LEP):c.309C>A (p.Asn103Lys)	LEP (N103K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 783831	NM_000230.3(LEP):c.309C>T (p.Asn103=)	LEP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 13987	NM_000230.3(LEP):c.313C>T (p.Arg105Trp)	LEP (R105W)	Single nucleotide variant (missense variant)	Obesity due to congenital leptin deficiency	GPathogenic
Select item 2136611	NM_000230.3(LEP):c.328G>A (p.Val110Met)	LEP (V110M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2986693	NM_000230.3(LEP):c.333G>T (p.Leu111=)	LEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 594218	NM_000230.3(LEP):c.350G>T (p.Cys117Phe)	LEP (C117F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634563	NM_000230.3(LEP):c.367A>G (p.Ser123Gly)	LEP (S123G)	Single nucleotide variant (missense variant)	LEP-related disorder	GUncertain significance
Select item 2893938	NM_000230.3(LEP):c.372C>T (p.Gly124=)	LEP	Single nucleotide variant (synonymous variant)	LEP-related disorder +1 more	GLikely benign
Select item 3050910	NM_000230.3(LEP):c.375G>A (p.Leu125=)	LEP	Single nucleotide variant (synonymous variant)	LEP-related disorder	GLikely benign
Select item 1901314	NM_000230.3(LEP):c.378G>A (p.Glu126=)	LEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 13986	NM_000230.3(LEP):c.398del (p.Gly133fs)	LEP (G133fs)	Deletion (frameshift variant)	Obesity due to congenital leptin deficiency	GPathogenic
Select item 2132136	NM_000230.3(LEP):c.429G>A (p.Glu143=)	LEP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 911679	NM_000230.3(LEP):c.436G>T (p.Ala146Ser)	LEP (A146S)	Single nucleotide variant (missense variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 448905	NM_000230.3(LEP):c.461T>C (p.Leu154Pro)	LEP (L154P)	Single nucleotide variant (missense variant)	Obesity due to congenital leptin deficiency	GLikely pathogenic
Select item 2172424	NM_000230.3(LEP):c.492C>T (p.Ser164=)	LEP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1210010	NM_000230.3(LEP):c.496G>C (p.Gly166Arg)	LEP (G166R)	Single nucleotide variant (missense variant)	LEP-related disorder	GUncertain significance
Select item 3031515	NM_000230.3(LEP):c.*4C>T	LEP	Single nucleotide variant (3 prime UTR variant)	LEP-related disorder	GLikely benign
Select item 911680	NM_000230.3(LEP):c.*33C>T	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 358820	NM_000230.3(LEP):c.*34G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +2 more	GConflicting classifications of pathogenicity
Select item 911681	NM_000230.3(LEP):c.*57C>T	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 358821	NM_000230.3(LEP):c.*69A>G	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 358822	NM_000230.3(LEP):c.*150G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 358823	NM_000230.3(LEP):c.*204C>T	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 1707392	NM_000230.3(LEP):c.*229C>G	LEP	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 358824	NM_000230.3(LEP):c.*300C>T	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 358825	NM_000230.3(LEP):c.*360G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 358826	NM_000230.3(LEP):c.*366A>T	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 909587	NM_000230.3(LEP):c.*373G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 358827	NM_000230.3(LEP):c.*400G>T	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GLikely benign
Select item 358828	NM_000230.3(LEP):c.*422G>C	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 910510	NM_000230.3(LEP):c.*653A>C	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 910511	NM_000230.3(LEP):c.*750G>C	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 910512	NM_000230.3(LEP):c.*781G>C	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 358829	NM_000230.3(LEP):c.*785A>G	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 911752	NM_000230.3(LEP):c.*962T>G	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 358830	NM_000230.3(LEP):c.*992G>T	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 358831	NM_000230.3(LEP):c.*1010C>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 358832	NM_000230.3(LEP):c.*1014C>G	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 911753	NM_000230.3(LEP):c.*1124G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 911754	NM_000230.3(LEP):c.*1185C>T	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 358833	NM_000230.3(LEP):c.*1243A>G	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GLikely benign
Select item 358834	NM_000230.3(LEP):c.*1260A>G	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 908787	NM_000230.3(LEP):c.*1318G>C	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 908788	NM_000230.3(LEP):c.*1369G>T	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 908789	NM_000230.3(LEP):c.*1422A>T	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 358835	NM_000230.3(LEP):c.*1428C>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 358836	NM_000230.3(LEP):c.*1549T>C	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 909642	NM_000230.3(LEP):c.*1579G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 909643	NM_000230.3(LEP):c.*1637A>G	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 358837	NM_000230.3(LEP):c.*1640C>T	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 358838	NM_000230.3(LEP):c.*1678C>T	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 358839	NM_000230.3(LEP):c.*1720A>G	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GBenign
Select item 910572	NM_000230.3(LEP):c.*1738G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 910573	NM_000230.3(LEP):c.*1749T>C	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 910574	NM_000230.3(LEP):c.*1825T>C	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 911808	NM_000230.3(LEP):c.*1886T>G	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 358840	NM_000230.3(LEP):c.*2015C>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 358841	NM_000230.3(LEP):c.*2053G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance

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