"Ambry Genetics"[submitter] AND "LEPR"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3290484	NM_002303.6(LEPR):c.62C>T (p.Ala21Val)	LEPR (A21V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2560292	NM_002303.6(LEPR):c.197C>A (p.Thr66Lys)	LEPR (T66K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 3054625	NM_002303.6(LEPR):c.317T>C (p.Ile106Thr)	LEPR (I106T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2227492	NM_002303.6(LEPR):c.457A>G (p.Arg153Gly)	LEPR (R153G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315626	NM_002303.6(LEPR):c.469T>G (p.Tyr157Asp)	LEPR (Y157D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 2266631	NM_002303.6(LEPR):c.842T>C (p.Ile281Thr)	LEPR (I281T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118393	NM_002303.6(LEPR):c.853G>A (p.Asp285Asn)	LEPR (D285N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2636683	NM_002303.6(LEPR):c.1063A>G (p.Lys355Glu)	LEPR (K355E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611027	NM_002303.6(LEPR):c.1096A>T (p.Ile366Phe)	LEPR (I366F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273655	NM_002303.6(LEPR):c.1117G>A (p.Ala373Thr)	LEPR (A373T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2065970	NM_002303.6(LEPR):c.1373C>T (p.Ala458Val)	LEPR (A458V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
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 3118388	NM_002303.6(LEPR):c.1420T>A (p.Ser474Thr)	LEPR (S474T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2636021	NM_002303.6(LEPR):c.1442C>T (p.Pro481Leu)	LEPR (P481L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218208	NM_002303.6(LEPR):c.1651A>C (p.Ile551Leu)	LEPR (I551L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 804986	NM_002303.6(LEPR):c.1652T>A (p.Ile551Asn)	LEPR (I551N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2272317	NM_002303.6(LEPR):c.1667T>C (p.Ile556Thr)	LEPR (I556T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290482	NM_002303.6(LEPR):c.1943T>A (p.Ile648Lys)	LEPR (I648K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1338147	NM_002303.6(LEPR):c.2034A>T (p.Arg678Ser)	LEPR, LOC122094844 (R678S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2302834	NM_002303.6(LEPR):c.2063A>G (p.Asn688Ser)	LEPR, LOC122094844 (N688S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 875881	NM_002303.6(LEPR):c.2171T>C (p.Val724Ala)	LEPR, LOC122094844 (V724A)	Single nucleotide variant (missense variant)	Obesity due to leptin receptor gene deficiency +2 more	GConflicting classifications of pathogenicity
Select item 3118390	NM_002303.6(LEPR):c.2278C>G (p.Leu760Val)	LEPR (L760V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515042	NM_002303.6(LEPR):c.2542G>A (p.Val848Ile)	LEPR (V848I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2278848	NM_002303.6(LEPR):c.2560A>G (p.Ile854Val)	LEPR (I854V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2487406	NM_002303.6(LEPR):c.2768G>A (p.Ser923Asn)	LEPR (S923N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549671	NM_002303.6(LEPR):c.2839G>A (p.Asp947Asn)	LEPR (D947N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 917430	NM_002303.6(LEPR):c.2918C>A (p.Thr973Asn)	LEPR (T973N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3118392	NM_002303.6(LEPR):c.3229A>G (p.Ile1077Val)	LEPR (I1077V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3290483	NM_002303.6(LEPR):c.3251C>T (p.Ser1084Leu)	LEPR (S1084L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278738	NM_002303.6(LEPR):c.3317C>T (p.Ala1106Val)	LEPR (A1106V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338094	NM_002303.6(LEPR):c.3437A>C (p.Gln1146Pro)	LEPR (Q1146P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 43