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

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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)	Inborn genetic diseases +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)	Obesity due to leptin receptor gene deficiency +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

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Items: 36