ClinVar for Gene (Select 3952) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 3052124	NM_000230.3(LEP):c.133A>G (p.Ile45Val)	LEP (I45V)	Single nucleotide variant (missense variant)	LEP-related condition	GUncertain significance
Select item 3050910	NM_000230.3(LEP):c.375G>A (p.Leu125=)	LEP	Single nucleotide variant (synonymous variant)	LEP-related condition	GLikely benign
Select item 3047910	NM_000230.3(LEP):c.174C>G (p.Thr58=)	LEP	Single nucleotide variant (synonymous variant)	LEP-related condition	GLikely benign
Select item 3044720	NM_000230.3(LEP):c.204C>G (p.Pro68=)	LEP	Single nucleotide variant (synonymous variant)	LEP-related condition	GLikely benign
Select item 3042985	NM_000230.3(LEP):c.132C>T (p.Asp44=)	LEP	Single nucleotide variant (synonymous variant)	LEP-related condition	GLikely benign
Select item 3031515	NM_000230.3(LEP):c.*4C>T	LEP	Single nucleotide variant (3 prime UTR variant)	LEP-related condition	GLikely benign
Select item 2986693	NM_000230.3(LEP):c.333G>T (p.Leu111=)	LEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963137	NM_000230.3(LEP):c.144+10_144+29del	LEP	Deletion (intron variant)	not provided	GLikely benign
Select item 2893938	NM_000230.3(LEP):c.372C>T (p.Gly124=)	LEP	Single nucleotide variant (synonymous variant)	LEP-related condition +1 more	GLikely benign
Select item 2735087	NM_000230.3(LEP):c.309C>A (p.Asn103Lys)	LEP (N103K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2685269	GRCh37/hg19 7q31.33-32.2(chr7:127076892-129405807)x1	AHCYL2, ARF5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2635971	NM_000230.3(LEP):c.22G>A (p.Gly8Arg)	LEP (G8R)	Single nucleotide variant (missense variant)	LEP-related condition	GUncertain significance
Select item 2634563	NM_000230.3(LEP):c.367A>G (p.Ser123Gly)	LEP (S123G)	Single nucleotide variant (missense variant)	LEP-related condition	GUncertain significance
Select item 2474043	NM_000230.3(LEP):c.194G>T (p.Gly65Val)	LEP (G65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2172424	NM_000230.3(LEP):c.492C>T (p.Ser164=)	LEP	Single nucleotide variant (synonymous variant)	LEP-related condition +1 more	GBenign/Likely benign
Select item 2136611	NM_000230.3(LEP):c.328G>A (p.Val110Met)	LEP (V110M)	Single nucleotide variant (missense variant)	LEP-related condition +1 more	GUncertain significance
Select item 2132136	NM_000230.3(LEP):c.429G>A (p.Glu143=)	LEP	Single nucleotide variant (synonymous variant)	LEP-related condition +1 more	GLikely benign
Select item 2095005	NM_000230.3(LEP):c.24A>G (p.Gly8=)	LEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026268	NM_000230.3(LEP):c.45T>C (p.Tyr15=)	LEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1901314	NM_000230.3(LEP):c.378G>A (p.Glu126=)	LEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1707392	NM_000230.3(LEP):c.*229C>G	LEP	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1707063	NM_000230.3(LEP):c.145-209G>T	LEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527397	GRCh37/hg19 7q32.1(chr7:127869902-127898641)	LEP	Copy number loss	not specified	GUncertain significance
Select item 1527396	GRCh37/hg19 7q32.1(chr7:127311520-128041339)	IMPDH1, LEP +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1527394	GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	BPGM, CALD1 +65 more	Copy number loss	not specified	GPathogenic
Select item 1527391	GRCh37/hg19 7q31.33-33(chr7:123967475-132729981)	ZC3HC1, ZNF800 +55 more	Copy number loss	not specified	GPathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1422020	NM_000230.3(LEP):c.30G>C (p.Leu10Phe)	LEP (L10F)	Single nucleotide variant (missense variant)	LEP-related condition +1 more	GUncertain significance
Select item 1294302	NM_000230.3(LEP):c.145-107G>A	LEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266247	NM_000230.3(LEP):c.145-50C>T	LEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247016	NM_000230.3(LEP):c.145-152G>A	LEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220903	NM_000230.3(LEP):c.145-217G>A	LEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211617	NM_000230.3(LEP):c.145-116G>C	LEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210010	NM_000230.3(LEP):c.496G>C (p.Gly166Arg)	LEP (G166R)	Single nucleotide variant (missense variant)	LEP-related condition	GUncertain significance
Select item 1074122	NM_000230.3(LEP):c.73C>T (p.Gln25Ter)	LEP (Q25*)	Single nucleotide variant (nonsense)	not provided	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 +2 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 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 783831	NM_000230.3(LEP):c.309C>T (p.Asn103=)	LEP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778362	NM_000230.3(LEP):c.75A>G (p.Gln25=)	LEP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 741430	NM_000230.3(LEP):c.15C>G (p.Thr5=)	LEP	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687212	GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)x1	AASS, AHCYL2 +46 more	Copy number loss	not provided	GPathogenic
Select item 594218	NM_000230.3(LEP):c.350G>T (p.Cys117Phe)	LEP (C117F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
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 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 435745	NM_000230.3(LEP):c.276A>G (p.Arg92=)	LEP	Single nucleotide variant (synonymous variant)	LEP-related condition +1 more	GLikely benign
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 358856	NM_000230.3(LEP):c.2819_2822dup	LEP	Duplication (3 prime UTR variant)	Monogenic Non-Syndromic Obesity +1 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)	Obesity due to congenital leptin deficiency +1 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)	Obesity due to congenital leptin deficiency +1 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)	Obesity due to congenital leptin deficiency +1 more	GLikely benign
Select item 358841	NM_000230.3(LEP):c.*2053G>A	LEP	Single nucleotide variant (3 prime UTR variant)	Obesity due to congenital leptin deficiency +1 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

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