3953[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 152348	GRCh38/hg38 1p31.3(chr1:64944525-67592003)x1	AK4, C1orf141 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 151358	GRCh38/hg38 1p31.3(chr1:65395820-65473801)x3	DNAJC6, LEPR +4 more	Copy number gain	See cases	GLikely benign
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 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 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 297982	NM_002303.6(LEPR):c.-122T>C	LEPR, LEPROT	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
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 724943	NM_017526.5(LEPROT):c.16+700G>A	LEPR, LEPROT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2214462	NM_017526.5(LEPROT):c.22G>A (p.Val8Met)	LEPR, LEPROT (V17M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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 1225396	NM_002303.6(LEPR):c.-21+122T>A	LEPR, LEPROT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2222914	NM_017526.5(LEPROT):c.94G>A (p.Val32Ile)	LEPR, LEPROT (V41I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290486	NM_017526.5(LEPROT):c.112G>A (p.Val38Ile)	LEPR, LEPROT (V47I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598776	NM_017526.5(LEPROT):c.199C>T (p.Arg67Trp)	LEPR, LEPROT (R76W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312060	NM_017526.5(LEPROT):c.230T>C (p.Ile77Thr)	LEPR, LEPROT (I77T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 151441	GRCh38/hg38 1p31.3(chr1:65473801-65541817)x3	LEPR	Copy number gain	See cases	GBenign
Select item 1235035	NM_002303.6(LEPR):c.-20-166G>A	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
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 3351981	NM_002303.6(LEPR):c.-5G>C	LEPR	Single nucleotide variant (5 prime UTR variant)	LEPR-related disorder	GLikely benign
Select item 3357044	NM_002303.6(LEPR):c.3G>A (p.Met1Ile)	LEPR (M1I)	Single nucleotide variant (missense variant +1 more)	LEPR-related disorder	GLikely pathogenic
Select item 3352977	NM_002303.6(LEPR):c.12A>G (p.Gln4=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3352778	NM_002303.6(LEPR):c.26T>C (p.Val9Ala)	LEPR (V9A)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3344632	NM_002303.6(LEPR):c.33A>G (p.Leu11=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
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 1286753	NM_002303.6(LEPR):c.40+239_40+240insACAC	LEPR	Insertion (intron variant)	not provided	GBenign
Select item 1193475	NM_002303.6(LEPR):c.40+239_40+240insACACAC	LEPR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1187101	NM_002303.6(LEPR):c.40+239_40+240insAC	LEPR	Insertion (intron variant)	not provided	GLikely benign
Select item 1203311	NM_002303.6(LEPR):c.40+240_40+243del	LEPR	Deletion (intron variant)	not provided	GLikely benign
Select item 1282777	NM_002303.6(LEPR):c.40+240T>A	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192002	NM_002303.6(LEPR):c.40+241CA[11]	LEPR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1244528	NM_002303.6(LEPR):c.41-128A>G	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3290484	NM_002303.6(LEPR):c.62C>T (p.Ala21Val)	LEPR (A21V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3350741	NM_002303.6(LEPR):c.66T>C (p.Phe22=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 2632958	NM_002303.6(LEPR):c.76T>C (p.Tyr26His)	LEPR (Y26H)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 2754886	NM_002303.6(LEPR):c.81A>G (p.Pro27=)	LEPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443479	NM_002303.6(LEPR):c.82A>G (p.Ile28Val)	LEPR (I28V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421140	NM_002303.6(LEPR):c.93G>A (p.Trp31Ter)	LEPR (W31*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3351645	NM_002303.6(LEPR):c.127A>G (p.Thr43Ala)	LEPR (T43A)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 2545811	NM_002303.6(LEPR):c.128C>G (p.Thr43Ser)	LEPR (T43S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1336313	NM_002303.6(LEPR):c.165G>C (p.Lys55Asn)	LEPR (K55N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3353224	NM_002303.6(LEPR):c.179C>T (p.Ser60Leu)	LEPR (S60L)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 1900848	NM_002303.6(LEPR):c.180G>A (p.Ser60=)	LEPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3348977	NM_002303.6(LEPR):c.181A>C (p.Asn61His)	LEPR (N61H)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3358355	NM_002303.6(LEPR):c.183T>C (p.Asn61=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 2560292	NM_002303.6(LEPR):c.197C>A (p.Thr66Lys)	LEPR (T66K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3357437	NM_002303.6(LEPR):c.208C>T (p.Pro70Ser)	LEPR (P70S)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3344023	NM_002303.6(LEPR):c.209C>A (p.Pro70His)	LEPR (P70H)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3348213	NM_002303.6(LEPR):c.233del (p.His78fs)	LEPR (H78fs)	Deletion (frameshift variant)	LEPR-related disorder	GLikely pathogenic
Select item 2814341	NM_002303.6(LEPR):c.253dup (p.Thr85fs)	LEPR (T85fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 3351172	NM_002303.6(LEPR):c.264C>T (p.His88=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3353366	NM_002303.6(LEPR):c.286_289delinsT (p.Asp96_Arg97delinsTer)	LEPR	Indel (nonsense)	LEPR-related disorder	GLikely pathogenic
Select item 3290481	NM_002303.6(LEPR):c.287A>G (p.Asp96Gly)	LEPR (D96G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3347208	NM_002303.6(LEPR):c.288T>C (p.Asp96=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 1356049	NM_002303.6(LEPR):c.296G>A (p.Cys99Tyr)	LEPR (C99Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2711821	NM_002303.6(LEPR):c.309A>C (p.Ala103=)	LEPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3054625	NM_002303.6(LEPR):c.317T>C (p.Ile106Thr)	LEPR (I106T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely 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 2629393	NM_002303.6(LEPR):c.340A>G (p.Thr114Ala)	LEPR (T114A)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
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 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 3356453	NM_002303.6(LEPR):c.347A>C (p.Asn116Thr)	LEPR (N116T)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
Select item 3030931	NM_002303.6(LEPR):c.354A>G (p.Leu118=)	LEPR	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 2298634	NM_002303.6(LEPR):c.356T>A (p.Val119Asp)	LEPR (V119D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050576	NM_002303.6(LEPR):c.370+10A>G	LEPR	Single nucleotide variant (intron variant)	LEPR-related disorder	GLikely benign
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 1204399	NM_002303.6(LEPR):c.370+129G>C	LEPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222942	NM_002303.6(LEPR):c.371-80C>G	LEPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3352473	NM_002303.6(LEPR):c.371-33_371-9dup	LEPR	Duplication (intron variant)	LEPR-related disorder	GLikely benign
Select item 3035211	NM_002303.6(LEPR):c.371-20_371-9dup	LEPR	Duplication (intron variant)	LEPR-related disorder	GLikely benign
Select item 3351282	NM_002303.6(LEPR):c.371-16_371-9del	LEPR	Deletion (intron variant)	LEPR-related disorder	GLikely benign
Select item 3059924	NM_002303.6(LEPR):c.371-13_371-9del	LEPR	Deletion (intron variant)	LEPR-related disorder	GLikely benign
Select item 3059861	NM_002303.6(LEPR):c.371-12_371-9del	LEPR	Deletion (intron variant)	LEPR-related disorder	GLikely benign
Select item 3058915	NM_002303.6(LEPR):c.371-19_371-9del	LEPR	Deletion (intron variant)	LEPR-related disorder	GLikely benign
Select item 3039702	NM_002303.6(LEPR):c.371-22_371-9del	LEPR	Deletion (intron variant)	LEPR-related disorder	GLikely benign
Select item 1208339	NM_002303.6(LEPR):c.371-26_371-25insG	LEPR	Insertion (intron variant)	not provided	GLikely benign
Select item 1278179	NM_002303.6(LEPR):c.371-25T>G	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2957018	NM_002303.6(LEPR):c.371-17T>G	LEPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3355802	NM_002303.6(LEPR):c.371-10_371-8del	LEPR	Deletion (intron variant)	LEPR-related disorder	GLikely benign
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 3029158	NM_002303.6(LEPR):c.371-8A>C	LEPR	Single nucleotide variant (intron variant)	LEPR-related disorder	GLikely benign
Select item 730249	NM_002303.6(LEPR):c.371-8_371-7insTTTTTTTTTT	LEPR	Insertion (intron variant)	not provided	GBenign
Select item 3350191	NM_002303.6(LEPR):c.371-6A>C	LEPR	Single nucleotide variant (intron variant)	LEPR-related disorder	GLikely benign
Select item 631613	NM_002303.6(LEPR):c.371-2_371-1insT	LEPR	Insertion (splice acceptor variant)	LEPR-related disorder	GUncertain significance
Select item 2635775	NM_002303.6(LEPR):c.371A>T (p.Asp124Val)	LEPR (D124V)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
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 2636874	NM_002303.6(LEPR):c.391T>A (p.Cys131Ser)	LEPR (C131S)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance

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