Unique variants in the LEP gene

Information The variants shown are described using the NM_000230.2 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
Legend   How to query  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. 1 - c.-6881324_*7679143del r.0? p.0? - pathogenic g.121000064_135573959del - - - IMPDH1_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 1i_2 c.-28-16_-3del r.-28_144del p.0? - pathogenic g.127892028_127892069del g.128251975_128252016del 1-44del42 - LEP_000006 - PubMed: Saeed 2015 - - Germline - - - - - Johan den Dunnen
-/. 2 - c.15C>G r.(?) p.(Thr5=) - benign g.127892086C>G g.128252033C>G LEP(NM_000230.3):c.15C>G (p.T5=) - LEP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - c.100C>T r.(?) p.(Leu34Phe) - VUS g.127892171C>T - LEP(NM_000230.3):c.100C>T (p.L34F) - LEP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 2 c.104_106del r.(?) p.(Ile35del) - pathogenic g.127892175_127892177del g.128252122_128252124del 104_106delTCA - LEP_000007 - PubMed: Saeed 2012 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.132C>T r.(?) p.(=) - likely benign g.127892203C>T - LEP(NM_000230.3):c.132C>T (p.D44=) - LEP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.144+5G>A r.spl? p.? - likely benign g.127892220G>A - LEP(NM_000230.3):c.144+5G>A - LEP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.204C>G r.(?) p.(Pro68=) - likely benign g.127894516C>G - LEP(NM_000230.3):c.204C>G (p.P68=) - LEP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.280G>A r.(?) p.(Val94Met) - benign g.127894592G>A g.128254539G>A LEP(NM_000230.3):c.280G>A (p.V94M) - LEP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.298G>A r.(?) p.(Asp100Asn) - VUS g.127894610G>A - LEP(NM_000230.3):c.298G>A (p.D100N) - LEP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.309C>T r.(?) p.(Asn103=) - benign g.127894621C>T g.128254568C>T LEP(NM_000230.3):c.309C>T (p.N103=) - LEP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - c.311T>G r.(?) p.(Leu104Arg) - VUS g.127894623T>G - LEP(NM_000230.2):c.311T>G (p.L104R) - LEP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 3 c.313C>T r.(?) p.(Arg105Trp) - pathogenic g.127894625C>T g.128254572C>T - - LEP_000008 - PubMed: Saeed 2015 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.350G>A r.(?) p.(Cys117Tyr) - pathogenic g.127894662G>A g.128254609G>A - - LEP_000009 - PubMed: Saeed 2015 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.372C>T r.(?) p.(=) - likely benign g.127894684C>T - LEP(NM_000230.3):c.372C>T (p.G124=) - LEP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 10 3 c.398del r.(?) p.(Gly133Valfs*15) - pathogenic g.127894710del g.128254657del 398delG - LEP_000010 - PubMed: Saeed 2012, PubMed: Saeed 2015 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.468C>T r.(?) p.(Asp156=) - likely benign g.127894780C>T - LEP(NM_000230.2):c.468C>T (p.D156=) - LEP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.496G>C r.(?) p.(Gly166Arg) - VUS g.127894808G>C g.128254755G>C LEP(NM_000230.2):c.496G>C (p.G166R), LEP(NM_000230.3):c.496G>C (p.G166R) - LEP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.