ClinVar for MedGen (Select 767139) - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359113	NM_002303.6(LEPR):c.1967dup (p.Glu657fs)	LEPR (E657fs)	Duplication (frameshift variant)	Obesity due to leptin receptor gene deficiency	GLikely pathogenic
Select item 2584561	NM_002303.6(LEPR):c.495-2927T>G	LEPR	Single nucleotide variant (intron variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 2584550	NM_002303.6(LEPR):c.1012C>A (p.Pro338Thr)	LEPR (P338T)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 2502246	NM_002303.6(LEPR):c.3240A>C (p.Leu1080Phe)	LEPR (L1080F)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 2502175	NM_002303.6(LEPR):c.976C>T (p.Arg326Cys)	LEPR (R326C)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 2502174	NM_002303.6(LEPR):c.346A>C (p.Asn116His)	LEPR (N116H)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 1709580	NM_002303.6(LEPR):c.421A>G (p.Ile141Val)	LEPR (I141V)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 1679174	NM_002303.6(LEPR):c.133_136dup (p.Tyr46Ter)	LEPR (Y46*)	Duplication (nonsense)	Obesity due to leptin receptor gene deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1339320	NM_002303.6(LEPR):c.2674-5935A>C	LEPR (T910P)	Single nucleotide variant (missense variant +1 more)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 931429	NM_002303.6(LEPR):c.2221G>A (p.Val741Met)	LEPR (V741M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 917430	NM_002303.6(LEPR):c.2918C>A (p.Thr973Asn)	LEPR (T973N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 876875	NM_002303.6(LEPR):c.3041C>G (p.Ser1014Cys)	LEPR (S1014C)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 876826	NM_002303.6(LEPR):c.806A>G (p.Tyr269Cys)	LEPR (Y269C)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 876825	NM_002303.6(LEPR):c.704-8T>C	LEPR	Single nucleotide variant (intron variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 876824	NM_002303.6(LEPR):c.691C>T (p.Pro231Ser)	LEPR (P231S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 876823	NM_002303.6(LEPR):c.611A>G (p.Lys204Arg)	LEPR (K204R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 875883	NM_002303.6(LEPR):c.2260G>A (p.Val754Met)	LEPR (V754M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875882	NM_002303.6(LEPR):c.2185T>G (p.Leu729Val)	LEPR, LOC122094844 (L729V)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 875881	NM_002303.6(LEPR):c.2171T>C (p.Val724Ala)	LEPR, LOC122094844 (V724A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 875835	NM_002303.6(LEPR):c.594G>A (p.Val198=)	LEPR	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 875834	NM_002303.6(LEPR):c.371-9T>A	LEPR	Single nucleotide variant (intron variant)	Obesity due to leptin receptor gene deficiency +1 more	GConflicting classifications of pathogenicity
Select item 875833	NM_002303.6(LEPR):c.345A>G (p.Val115=)	LEPR	Single nucleotide variant (synonymous variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 875832	NM_002303.6(LEPR):c.299C>G (p.Ser100Cys)	LEPR (S100C)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 875831	NM_002303.6(LEPR):c.260T>C (p.Phe87Ser)	LEPR (F87S)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 875007	NM_002303.6(LEPR):c.*453C>T	LEPR	Single nucleotide variant (3 prime UTR variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 875006	NM_002303.6(LEPR):c.*287G>C	LEPR	Single nucleotide variant (3 prime UTR variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 875005	NM_002303.6(LEPR):c.*251G>T	LEPR	Single nucleotide variant (3 prime UTR variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 875004	NM_002303.6(LEPR):c.*232G>A	LEPR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 875003	NM_002303.6(LEPR):c.*153A>G	LEPR	Single nucleotide variant (3 prime UTR variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 874955	NM_002303.6(LEPR):c.2046C>T (p.Asn682=)	LEPR, LOC122094844	Single nucleotide variant (synonymous variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 874954	NM_002303.6(LEPR):c.1701C>T (p.Asn567=)	LEPR	Single nucleotide variant (synonymous variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 874953	NM_002303.6(LEPR):c.1635A>G (p.Ala545=)	LEPR	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 874952	NM_002303.6(LEPR):c.1413T>A (p.Leu471=)	LEPR	Single nucleotide variant (synonymous variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 874951	NM_002303.6(LEPR):c.1374G>A (p.Ala458=)	LEPR	Single nucleotide variant (synonymous variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 874950	NM_002303.6(LEPR):c.1341C>T (p.Cys447=)	LEPR	Single nucleotide variant (synonymous variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 874897	NM_002303.6(LEPR):c.-51T>G	LEPR, LEPROT (L21R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 874076	NM_002303.6(LEPR):c.*99A>G	LEPR	Single nucleotide variant (3 prime UTR variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 874075	NM_002303.6(LEPR):c.*48G>C	LEPR	Single nucleotide variant (3 prime UTR variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 874074	NM_002303.6(LEPR):c.3437A>T (p.Gln1146Leu)	LEPR (Q1146L)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 874018	NM_002303.6(LEPR):c.1299T>C (p.Asn433=)	LEPR	Single nucleotide variant (synonymous variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 874017	NM_002303.6(LEPR):c.1157A>G (p.Asp386Gly)	LEPR (D386G)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 874016	NM_002303.6(LEPR):c.1040A>G (p.Asn347Ser)	LEPR (N347S)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 874015	NM_002303.6(LEPR):c.1030G>A (p.Val344Ile)	LEPR (V344I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 874014	NM_002303.6(LEPR):c.1018A>G (p.Ile340Val)	LEPR (I340V)	Single nucleotide variant (missense variant)	LEPR-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 873955	NM_002303.6(LEPR):c.-162C>A	LEPR, LEPROT	Single nucleotide variant (5 prime UTR variant)	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 873954	NM_002303.5(LEPR):c.-186C>T	LEPR	Single nucleotide variant	Obesity due to leptin receptor gene deficiency	GUncertain significance
Select item 804989	NM_002303.6(LEPR):c.2597+15G>C	LEPR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 791797	NM_002303.6(LEPR):c.3024A>G (p.Ser1008=)	LEPR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 775558	NM_002303.6(LEPR):c.2958C>T (p.Tyr986=)	LEPR	Single nucleotide variant (synonymous variant)	Obesity due to leptin receptor gene deficiency +1 more	GBenign/Likely benign
Select item 730209	NM_002303.6(LEPR):c.2370A>C (p.Ser790=)	LEPR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 727197	NM_002303.6(LEPR):c.36T>C (p.His12=)	LEPR	Single nucleotide variant (synonymous variant)	Obesity due to leptin receptor gene deficiency +2 more	GConflicting classifications of pathogenicity
Select item 666597	Single allele	LEPR	Deletion	Obesity due to leptin receptor gene deficiency	GPathogenic
Select item 631614	NM_002303.6(LEPR):c.1835G>A (p.Arg612His)	LEPR (R612H)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency +2 more	GPathogenic/Likely pathogenic
Select item 619954	NM_002303.6(LEPR):c.464A>C (p.Tyr155Ser)	LEPR (Y155S)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency	GPathogenic
Select item 487357	NM_002303.6(LEPR):c.370+16G>T	LEPR	Single nucleotide variant (intron variant)	Obesity due to leptin receptor gene deficiency +1 more	GBenign
Select item 453309	NM_002303.6(LEPR):c.3268_3269dup (p.Ser1090fs)	LEPR (S1090fs)	Microsatellite (frameshift variant)	Obesity due to leptin receptor gene deficiency	GPathogenic
Select item 393364	NM_002303.6(LEPR):c.2096C>T (p.Thr699Met)	LEPR, LOC122094844 (T699M)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency +2 more	GBenign
Select item 298009	NM_002303.6(LEPR):c.*403T>C	LEPR	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 298008	NM_002303.6(LEPR):c.*346CA[8]	LEPR	Microsatellite (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GBenign
Select item 298007	NM_002303.6(LEPR):c.*201C>T	LEPR	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 298006	NM_002303.6(LEPR):c.*188A>C	LEPR	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 298005	NM_002303.6(LEPR):c.*112T>C	LEPR	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 298004	NM_002303.6(LEPR):c.60_61insCTTTA	LEPR	Insertion (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +2 more	GBenign/Likely benign
Select item 298003	NM_002303.6(LEPR):c.3479T>C (p.Met1160Thr)	LEPR (M1160T)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency +4 more	GConflicting classifications of pathogenicity
Select item 298002	NM_002303.6(LEPR):c.3114A>G (p.Ile1038Met)	LEPR (I1038M)	Single nucleotide variant (missense variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 298001	NM_002303.6(LEPR):c.3078T>C (p.Asn1026=)	LEPR	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 298000	NM_002303.6(LEPR):c.3057G>A (p.Pro1019=)	LEPR	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 297999	NM_002303.6(LEPR):c.3019A>T (p.Ser1007Cys)	LEPR (S1007C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 297998	NM_002303.6(LEPR):c.2970C>G (p.Ile990Met)	LEPR (I990M)	Single nucleotide variant (missense variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 297997	NM_002303.6(LEPR):c.2698A>G (p.Ile900Val)	LEPR (I900V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 297996	NM_002303.6(LEPR):c.2397T>G (p.Asp799Glu)	LEPR (D799E)	Single nucleotide variant (missense variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 297995	NM_002303.6(LEPR):c.2103C>T (p.Phe701=)	LEPR, LOC122094844	Single nucleotide variant (synonymous variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 297994	NM_002303.6(LEPR):c.1411C>A (p.Leu471Ile)	LEPR (L471I)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency +2 more	GUncertain significance
Select item 297993	NM_002303.6(LEPR):c.1246C>T (p.His416Tyr)	LEPR (H416Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 297992	NM_002303.6(LEPR):c.1166G>A (p.Ser389Asn)	LEPR (S389N)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency +1 more	GUncertain significance
Select item 297991	NM_002303.6(LEPR):c.1029T>C (p.Ser343=)	LEPR	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 297990	NM_002303.6(LEPR):c.921G>C (p.Gln307His)	LEPR (Q307H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 297989	NM_002303.6(LEPR):c.716C>T (p.Pro239Leu)	LEPR (P239L)	Single nucleotide variant (missense variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 297988	NM_002303.6(LEPR):c.666C>G (p.Phe222Leu)	LEPR (F222L)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency +2 more	GUncertain significance
Select item 297987	NM_002303.6(LEPR):c.536G>A (p.Gly179Asp)	LEPR (G179D)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 297986	NM_002303.6(LEPR):c.371A>G (p.Asp124Gly)	LEPR (D124G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 297985	NM_002303.6(LEPR):c.-20-15A>T	LEPR	Single nucleotide variant (intron variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 297984	NM_017526.5(LEPROT):c.21C>T (p.Leu7=)	LEPROT, LEPR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 297983	NM_002303.6(LEPR):c.-120C>T	LEPR, LEPROT	Single nucleotide variant (5 prime UTR variant)	Obesity due to leptin receptor gene deficiency +1 more	GUncertain significance
Select item 297982	NM_002303.6(LEPR):c.-122T>C	LEPR, LEPROT	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 297981	NM_002303.6(LEPR):c.-161C>T	LEPR, LEPROT	Single nucleotide variant (5 prime UTR variant)	Obesity due to leptin receptor gene deficiency +1 more	GUncertain significance
Select item 36466	NM_002303.6(LEPR):c.3417A>G (p.Ala1139=)	LEPR	Single nucleotide variant (synonymous variant)	Obesity due to leptin receptor gene deficiency +4 more	GConflicting classifications of pathogenicity
Select item 8524	NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn)	LEPR (K656N)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 8523	NM_002303.6(LEPR):c.326A>G (p.Lys109Arg)	LEPR (K109R)	Single nucleotide variant (missense variant)	Monogenic Non-Syndromic Obesity +3 more	GBenign
Select item 8522	NM_002303.6(LEPR):c.2597+1G>A	LEPR	Single nucleotide variant (splice donor variant)	Obesity due to leptin receptor gene deficiency	GPathogenic
Select item 8521	NM_002303.6(LEPR):c.668A>G (p.Gln223Arg)	LEPR (Q223R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign

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Items: 91