"GeneDx"[submitter] AND "LEPR"[gene] - ClinVar

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Search results

Items: 81

	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 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 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 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
Select item 151358	GRCh38/hg38 1p31.3(chr1:65395820-65473801)x3	DNAJC6, LEPR +4 more	Copy number gain	See cases	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 1225396	NM_002303.6(LEPR):c.-21+122T>A	LEPR, LEPROT	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 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 1291785	NM_002303.6(LEPR):c.494+303C>A	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197250	NM_002303.6(LEPR):c.494+324A>T	LEPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234758	NM_002303.6(LEPR):c.495-125dup	LEPR	Duplication (intron variant)	not provided	GBenign
Select item 1297800	NM_002303.6(LEPR):c.495-125del	LEPR	Deletion (intron variant)	not provided	GBenign
Select item 8521	NM_002303.6(LEPR):c.668A>G (p.Gln223Arg)	LEPR (Q223R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1286120	NM_002303.6(LEPR):c.703+253A>G	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190305	NM_002303.6(LEPR):c.704-26A>G	LEPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183725	NM_002303.6(LEPR):c.849+49A>G	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195166	NM_002303.6(LEPR):c.850-246C>T	LEPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235525	NM_002303.6(LEPR):c.850-230T>C	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263741	NM_002303.6(LEPR):c.850-50A>C	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236987	NM_002303.6(LEPR):c.994+223C>T	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
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 804985	NM_002303.6(LEPR):c.1285+20G>A	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1224031	NM_002303.6(LEPR):c.1285+31T>C	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241787	NM_002303.6(LEPR):c.1404-299C>T	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262068	NM_002303.6(LEPR):c.1404-119G>A	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262558	NM_002303.6(LEPR):c.1603+162T>A	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250033	NM_002303.6(LEPR):c.1604-270A>G	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2575606	NM_002303.6(LEPR):c.1717C>A (p.Arg573Ser)	LEPR (R573S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254351	NM_002303.6(LEPR):c.1752+307A>G	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266126	NM_002303.6(LEPR):c.1753-44A>G	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2498024	NM_002303.6(LEPR):c.1874G>A (p.Trp625Ter)	LEPR (W625*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1268305	NM_002303.6(LEPR):c.1996-27A>G	LEPR, LOC122094844	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3340175	NM_002303.6(LEPR):c.2051A>C (p.His684Pro)	LEPR, LOC122094844 (H684P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1254375	NM_002303.6(LEPR):c.2212+177A>G	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241189	NM_002303.6(LEPR):c.2212+228A>G	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238327	NM_002303.6(LEPR):c.2213-110G>A	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233569	NM_002303.6(LEPR):c.2395+167CTCTT[5]	LEPR	Microsatellite (intron variant)	not provided	GBenign
Select item 1292736	NM_002303.6(LEPR):c.2395+186_2395+187insC	LEPR	Insertion (intron variant)	not provided	GBenign
Select item 1292719	NM_002303.6(LEPR):c.2395+187_2395+188insCTTC	LEPR	Insertion (intron variant)	not provided	GBenign
Select item 1232524	NM_002303.6(LEPR):c.2396-178A>G	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247474	NM_002303.6(LEPR):c.2396-86T>A	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262802	NM_002303.6(LEPR):c.2396-37T>A	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
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 1227668	NM_002303.6(LEPR):c.2597+160G>C	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249569	NM_002303.6(LEPR):c.2598-219A>G	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223784	NM_002303.6(LEPR):c.2598-208C>T	LEPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183122	NM_002303.6(LEPR):c.2673+37C>A	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227633	NM_002303.6(LEPR):c.2673+287A>G	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183895	NM_002303.6(LEPR):c.2673+2835T>C	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277606	NM_002303.6(LEPR):c.2673+2994_2673+2997del	LEPR	Deletion (intron variant)	not provided	GBenign
Select item 1181593	NM_002303.6(LEPR):c.2673+3114T>A	LEPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220209	NM_002303.6(LEPR):c.2673+3223C>T	LEPR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1267242	NM_002303.6(LEPR):c.2673+3353T>A	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243676	NM_002303.6(LEPR):c.2674-3221T>C	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202881	NM_002303.6(LEPR):c.2674-3175T>G	LEPR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181709	NM_002303.6(LEPR):c.2674-3129C>A	LEPR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259804	NM_002303.6(LEPR):c.2674-2861C>A	LEPR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 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 298000	NM_002303.6(LEPR):c.3057G>A (p.Pro1019=)	LEPR	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 36466	NM_002303.6(LEPR):c.3417A>G (p.Ala1139=)	LEPR	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 875004	NM_002303.6(LEPR):c.*232G>A	LEPR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign

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Items: 81