Related gene-specific medical variations for Gene (Select 54741) - ClinVar - NCBI

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Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1225396	NM_002303.6(LEPR):c.-21+122T>A	LEPR, LEPROT	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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