Related gene-specific medical variations for Gene (Select 3953) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 36

	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 3356444	NM_002303.6(LEPR):c.2190C>A (p.Thr730=)	LEPR, LOC122094844	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3349116	NM_002303.6(LEPR):c.2025T>C (p.Ser675=)	LEPR, LOC122094844	Single nucleotide variant (synonymous variant)	LEPR-related disorder	GLikely benign
Select item 3345979	NM_002303.6(LEPR):c.2045A>G (p.Asn682Ser)	LEPR, LOC122094844 (N682S)	Single nucleotide variant (missense variant)	LEPR-related disorder	GUncertain significance
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 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 3247939	NC_000001.10:g.(?_66101854)_(66102698_?)del	LEPR	Deletion	not provided	GPathogenic
Select item 3057526	NM_002303.6(LEPR):c.2024G>C (p.Ser675Thr)	LEPR, LOC122094844 (S675T)	Single nucleotide variant (missense variant)	LEPR-related disorder	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 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 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 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 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 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 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 2041056	NM_002303.6(LEPR):c.2124A>C (p.Gln708His)	LEPR, LOC122094844 (Q708H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338147	NM_002303.6(LEPR):c.2034A>T (p.Arg678Ser)	LEPR, LOC122094844 (R678S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1268305	NM_002303.6(LEPR):c.1996-27A>G	LEPR, LOC122094844	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225396	NM_002303.6(LEPR):c.-21+122T>A	LEPR, LEPROT	Single nucleotide variant (intron variant)	not provided	GBenign
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)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 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 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 804987	NM_002303.6(LEPR):c.2153A>G (p.Asn718Ser)	LEPR, LOC122094844 (N718S)	Single nucleotide variant (missense variant)	not provided	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 685653	GRCh37/hg19 1p31.3(chr1:65924642-66031145)x4	LEPR	Copy number gain	not provided	GUncertain significance
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 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 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 151441	GRCh38/hg38 1p31.3(chr1:65473801-65541817)x3	LEPR	Copy number gain	See cases	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 36