LEPROT[gene] - ClinVar

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Items: 42

	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 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 3247793	NC_000001.10:g.(?_61548464)_(67861772_?)dup	AK4, ALG6 +32 more	Duplication	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
Select item 2424397	NC_000001.10:g.(?_65299551)_(67861772_?)del	AK4, C1orf141 +14 more	Deletion	not provided	GPathogenic
Select item 1527048	GRCh37/hg19 1p31.3-31.2(chr1:65125111-69186543)	SGIP1, SLC35D1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	ATG4C, MRPL37 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 687744	GRCh37/hg19 1p31.3(chr1:65853698-65952922)x3	DNAJC6, LEPR +1 more	Copy number gain	not provided	GUncertain significance
Select item 687420	GRCh37/hg19 1p31.3(chr1:65853698-65965376)x3	DNAJC6, LEPR +1 more	Copy number gain	not provided	GUncertain significance
Select item 686125	GRCh37/hg19 1p31.3(chr1:65853698-65969430)x3	DNAJC6, LEPR +1 more	Copy number gain	not provided	GUncertain significance
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565106	GRCh37/hg19 1p31.3(chr1:64848307-67436595)x1	SGIP1, JAK1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 565102	GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3	AK4, ALG6 +46 more	Copy number gain	not provided	GPathogenic
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic
Select item 394145	GRCh37/hg19 1p31.3(chr1:65881068-65939484)x3	DNAJC6, LEPR +1 more	Copy number gain	See cases	GBenign

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Items: 42