ClinVar for MedGen (Select 767138) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242154	NM_002303.6(LEPR):c.1752+1G>A	LEPR	Single nucleotide variant (splice donor variant)	Obesity due to congenital leptin deficiency	GLikely pathogenic
Select item 2428498	NM_000230.3(LEP):c.190C>T (p.Pro64Ser)	LEP (P64S)	Single nucleotide variant (missense variant)	Obesity due to congenital leptin deficiency	GPathogenic
Select item 2428497	NM_000230.3(LEP):c.175G>A (p.Gly59Ser)	LEP (G59S)	Single nucleotide variant (missense variant)	Obesity due to congenital leptin deficiency	GPathogenic
Select item 911852	NM_000230.3(LEP):c.*2800G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 911808	NM_000230.3(LEP):c.*1886T>G	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 911754	NM_000230.3(LEP):c.*1185C>T	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 911753	NM_000230.3(LEP):c.*1124G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 911752	NM_000230.3(LEP):c.*962T>G	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 911681	NM_000230.3(LEP):c.*57C>T	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 911680	NM_000230.3(LEP):c.*33C>T	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 911679	NM_000230.3(LEP):c.436G>T (p.Ala146Ser)	LEP (A146S)	Single nucleotide variant (missense variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 910630	NM_000230.3(LEP):c.*2503C>T	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 910574	NM_000230.3(LEP):c.*1825T>C	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 910573	NM_000230.3(LEP):c.*1749T>C	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 910572	NM_000230.3(LEP):c.*1738G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 910512	NM_000230.3(LEP):c.*781G>C	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 910511	NM_000230.3(LEP):c.*750G>C	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 910510	NM_000230.3(LEP):c.*653A>C	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 910457	NM_000230.3(LEP):c.143C>T (p.Thr48Met)	LEP (T48M)	Single nucleotide variant (missense variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 910456	NM_000230.3(LEP):c.53A>G (p.Tyr18Cys)	LEP (Y18C)	Single nucleotide variant (missense variant)	Obesity due to congenital leptin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 909708	NM_000230.3(LEP):c.*2437C>T	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 909707	NM_000230.3(LEP):c.*2263G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 909706	NM_000230.3(LEP):c.*2245C>G	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 909643	NM_000230.3(LEP):c.*1637A>G	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 909642	NM_000230.3(LEP):c.*1579G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 909587	NM_000230.3(LEP):c.*373G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 909528	NM_000230.3(LEP):c.-14T>G	LEP	Single nucleotide variant (5 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 908851	NM_000230.3(LEP):c.*2110G>T	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 908789	NM_000230.3(LEP):c.*1422A>T	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 908788	NM_000230.3(LEP):c.*1369G>T	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 908787	NM_000230.3(LEP):c.*1318G>C	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency	GUncertain significance
Select item 724209	NM_000230.3(LEP):c.165G>A (p.Gln55=)	LEP	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 448905	NM_000230.3(LEP):c.461T>C (p.Leu154Pro)	LEP (L154P)	Single nucleotide variant (missense variant)	Obesity due to congenital leptin deficiency	GLikely pathogenic
Select item 358856	NM_000230.3(LEP):c.2819_2822dup	LEP	Duplication (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +2 more	GUncertain significance
Select item 358855	NM_000230.3(LEP):c.2820_2822dup	LEP	Duplication (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GLikely benign
Select item 358854	NM_000230.3(LEP):c.*2822dup	LEP	Duplication (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 358853	NM_000230.3(LEP):c.*2799C>T	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +2 more	GUncertain significance
Select item 358852	NM_000230.3(LEP):c.*2738G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 358851	NM_000230.3(LEP):c.*2595C>T	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 358850	NM_000230.3(LEP):c.*2595C>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GLikely benign
Select item 358849	NM_000230.3(LEP):c.*2579G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 358848	NM_000230.3(LEP):c.*2527G>T	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 358847	NM_000230.3(LEP):c.*2410G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GBenign/Likely benign
Select item 358846	NM_000230.3(LEP):c.*2267A>C	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 358845	NM_000230.3(LEP):c.*2253C>A	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +2 more	GBenign/Likely benign
Select item 358844	NM_000230.3(LEP):c.*2234G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 358843	NM_000230.3(LEP):c.*2224G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 358842	NM_000230.3(LEP):c.*2205G>A	LEP	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 358841	NM_000230.3(LEP):c.*2053G>A	LEP	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 358840	NM_000230.3(LEP):c.*2015C>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 358839	NM_000230.3(LEP):c.*1720A>G	LEP	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 358838	NM_000230.3(LEP):c.*1678C>T	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 358837	NM_000230.3(LEP):c.*1640C>T	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 358836	NM_000230.3(LEP):c.*1549T>C	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 358835	NM_000230.3(LEP):c.*1428C>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 358834	NM_000230.3(LEP):c.*1260A>G	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 358833	NM_000230.3(LEP):c.*1243A>G	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GLikely benign
Select item 358832	NM_000230.3(LEP):c.*1014C>G	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 358831	NM_000230.3(LEP):c.*1010C>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 358830	NM_000230.3(LEP):c.*992G>T	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 358829	NM_000230.3(LEP):c.*785A>G	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 358828	NM_000230.3(LEP):c.*422G>C	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 358827	NM_000230.3(LEP):c.*400G>T	LEP	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 358826	NM_000230.3(LEP):c.*366A>T	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +2 more	GUncertain significance
Select item 358825	NM_000230.3(LEP):c.*360G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 more	GUncertain significance
Select item 358824	NM_000230.3(LEP):c.*300C>T	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 358823	NM_000230.3(LEP):c.*204C>T	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 358822	NM_000230.3(LEP):c.*150G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +2 more	GUncertain significance
Select item 358821	NM_000230.3(LEP):c.*69A>G	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 358820	NM_000230.3(LEP):c.*34G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +2 more	GConflicting classifications of pathogenicity
Select item 358819	NM_000230.3(LEP):c.280G>A (p.Val94Met)	LEP (V94M)	Single nucleotide variant (missense variant)	Monogenic diabetes +3 more	GBenign/Likely benign
Select item 358818	NM_000230.3(LEP):c.212C>A (p.Thr71Asn)	LEP (T71N)	Single nucleotide variant (missense variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 358817	NM_000230.3(LEP):c.181G>A (p.Asp61Asn)	LEP (D61N)	Single nucleotide variant (missense variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 358816	NM_000230.3(LEP):c.144+15C>T	LEP	Single nucleotide variant (intron variant)	Monogenic Non-Syndromic Obesity +1 more	GUncertain significance
Select item 358815	NM_000230.3(LEP):c.21C>T (p.Cys7=)	LEP	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 358814	NM_000230.3(LEP):c.-39G>A	LEP, LOC106728418	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 13987	NM_000230.3(LEP):c.313C>T (p.Arg105Trp)	LEP (R105W)	Single nucleotide variant (missense variant)	Obesity due to congenital leptin deficiency	GPathogenic
Select item 13986	NM_000230.3(LEP):c.398del (p.Gly133fs)	LEP (G133fs)	Deletion (frameshift variant)	not provided	GPathogenic

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Items: 78