Unique variants in gene LRTOMT

Information The variants shown are described using the NM_001145309.3 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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.-81039G>A r.(?) p.(=) - likely benign g.71711435G>A - IL18BP(NM_005699.3):c.67G>A (p.V23I) - chr11_006767 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-79598C>A r.(?) p.(=) - VUS g.71712876C>A - IL18BP(NM_173042.2):c.554C>A (p.S185Y) - chr11_006768 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-77336C>T r.(?) p.(=) - VUS g.71715138C>T - NUMA1(NM_001286561.1):c.6089G>A (p.R2030Q) - IL18BP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-76669C>T r.(?) p.(=) - VUS g.71715805C>T - NUMA1(NM_001286561.1):c.5845G>A (p.E1949K) - IL18BP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.-75207A>G r.(?) p.(=) - likely benign, VUS g.71717267A>G g.72006221A>G NUMA1(NM_001286561.1):c.5464T>C (p.Y1822H), NUMA1(NM_006185.2):c.5506T>C (p.(Tyr1836His)) - NUMA1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.-72062C>T r.(?) p.(=) - VUS g.71720412C>T g.72009366C>T NUMA1(NM_001286561.1):c.4699G>A (p.E1567K) - NUMA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-68372C>T r.(?) p.(=) - VUS g.71724102C>T g.72013056C>T NUMA1(NM_001286561.1):c.4447G>A (p.V1483I) - NUMA1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-67880C>T r.(?) p.(=) - VUS g.71724594C>T g.72013548C>T NUMA1(NM_001286561.1):c.3955G>A (p.A1319T) - NUMA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-67344T>C r.(?) p.(=) - likely benign g.71725130T>C - NUMA1(NM_001286561.1):c.3419A>G (p.Q1140R) - chr11_006769 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-67330T>G r.(?) p.(=) - likely benign g.71725144T>G g.72014098T>G NUMA1(NM_006185.2):c.3405A>C (p.(Gln1135His)) - NUMA1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-67285G>C r.(?) p.(=) - likely benign g.71725189G>C g.72014143G>C NUMA1(NM_001286561.1):c.3360C>G (p.P1120=) - NUMA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.-67190G>C r.(?) p.(=) - likely benign g.71725284G>C g.72014238G>C NUMA1(NM_001286561.1):c.3265C>G (p.Q1089E) - NUMA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-66677G>A r.(?) p.(=) - likely benign g.71725797G>A g.72014751G>A NUMA1(NM_001286561.1):c.2752C>T (p.R918C) - NUMA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-66352T>A r.(?) p.(=) - likely benign g.71726122T>A g.72015076T>A NUMA1(NM_006185.2):c.2427A>T (p.(Glu809Asp)) - NUMA1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-66078A>G r.(?) p.(=) - VUS g.71726396A>G g.72015350A>G NUMA1(NM_001286561.1):c.2153T>C (p.L718P) - NUMA1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-66010C>T r.(?) p.(=) - likely benign g.71726464C>T g.72015418C>T NUMA1(NM_001286561.1):c.2085G>A (p.Q695=) - NUMA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-65355T>C r.(?) p.(=) - likely benign g.71727119T>C g.72016073T>C NUMA1(NM_001286561.1):c.1430A>G (p.N477S) - NUMA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-63643G>C r.(?) p.(=) - likely benign g.71728831G>C g.72017785G>C NUMA1(NM_001286561.1):c.1021C>G (p.L341V) - NUMA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-367G>A r.(?) p.(=) - VUS g.71800166G>A g.72089120G>A LRTOMT(NM_001271471.2):c.37G>A (p.E13K) - LRTOMT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.-155G>A r.(?) p.(=) - pathogenic g.71804708G>A g.72093662G>A LRTOMT(NM_001271471.2):c.249G>A (p.W83*) - LRTOMT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-149C>T r.(?) p.(=) - likely benign g.71804714C>T - LRTOMT(NM_001271471.2):c.255C>T (p.D85=) - chr11_006770 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.34+373A>G r.(=) p.(=) - benign g.71806515A>G g.72095469A>G LRTOMT(NM_145309.5):c.528A>G (p.K176=) - LAMTOR1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 6 c.47T>C r.(?) p.(Leu16Pro) - pathogenic g.71816022T>C g.72104976T>C - - LRTOMT_000003 - MORL Deafness Variation Database, PubMed: Du 2008 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 7 c.102G>A r.(?) p.(Met34Ile) - pathogenic g.71817000G>A g.72105954G>A - - LRTOMT_000004 - MORL Deafness Variation Database, PubMed: Babanejad 2012 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 7 c.107del r.(?) p.(Pro36Leufs*12) - pathogenic g.71817005del g.72105959del - - LRTOMT_000005 - MORL Deafness Variation Database, PubMed: Vanwesemael 2011 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/? 1 7 c.165C>G r.(?) p.(His55Gln) - VUS g.71817063C>G g.72106017C>G - - LRTOMT_000006 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/., ?/? 2 7 c.191T>G r.(?) p.(Val64Gly) - VUS g.71817089T>G g.72106043T>G LRTOMT(NM_001145309.3):c.191T>G (p.V64G) - LAMTOR1_000009 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Duzkale 2013 - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_Groningen, Global Variome, with Curator vacancy
+/+ 1 7 c.208C>T r.(?) p.(Arg70*) - pathogenic g.71817106C>T g.72106060C>T - - LRTOMT_000007 - MORL Deafness Variation Database, PubMed: Riahi 2014 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.230G>A r.(?) p.(Arg77Gln) - likely benign g.71817128G>A g.72106082G>A LRTOMT(NM_001145309.3):c.230G>A (p.R77Q) - LAMTOR1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 7 c.240G>T r.(?) p.(Glu80Asp) - pathogenic g.71817138G>T g.72106092G>T - - LRTOMT_000008 - MORL Deafness Variation Database, PubMed: Babanejad 2012 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 7 c.241C>T r.(?) p.(Arg81Trp) - pathogenic g.71817139C>T g.72106093C>T - - LRTOMT_000009 - MORL Deafness Variation Database, PubMed: Babanejad 2012 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 7 c.242G>A r.(?) p.(Arg81Gln) - pathogenic g.71817140G>A g.72106094G>A - - LRTOMT_000010 - 1 more item - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 7 c.313T>C r.(?) p.(Trp105Arg) - pathogenic g.71817211T>C g.72106165T>C - - LRTOMT_000011 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Ahmed 2008 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 7 c.328G>A r.(?) p.(Glu110Lys) - pathogenic g.71817226G>A g.72106180G>A - - LRTOMT_000012 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Ahmed 2008 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
+/+ 1 7 c.333C>G r.(?) p.(Tyr111*) - pathogenic g.71817231C>G g.72106185C>G - - LRTOMT_000013 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Du 2008 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/. 1 - c.352G>A r.(?) p.(Val118Ile) - benign g.71817250G>A g.72106204G>A LRTOMT(NM_001145309.3):c.352G>A (p.V118I) - LAMTOR1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., +/+ 2 7i c.358+4A>C r.spl? p.? - likely pathogenic, pathogenic g.71817260A>C g.72106214A>C - - LAMTOR1_000004 VKGL data sharing initiative Nederland 1 more item - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_Nijmegen, Global Variome, with Curator vacancy
+/+ 1 8 c.473G>A r.(?) p.(Arg158His) - pathogenic g.71819083G>A g.72108037G>A - - LRTOMT_000014 - MORL Deafness Variation Database, PubMed: Du 2008 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. 1 - c.500G>A r.(?) p.(Arg167His) - VUS g.71819110G>A g.72108064G>A LRTOMT(NM_001145309.3):c.500G>A (p.R167H) - LAMTOR1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.503C>T r.(?) p.(Thr168Met) - likely benign g.71819113C>T g.72108067C>T LRTOMT(NM_001145309.3):c.503C>T (p.T168M) - LAMTOR1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.562C>T r.(?) p.(Leu188Phe) - VUS g.71819657C>T g.72108611C>T LRTOMT(NM_001145309.3):c.562C>T (p.L188F) - LAMTOR1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 9 c.612_613insAGCT r.(?) p.(Gln205Serfs*40) - pathogenic g.71819707_71819708insAGCT g.72108661_72108662insAGCT - - LRTOMT_000015 - MORL Deafness Variation Database, PubMed: Miller 2010, PubMed: Farwell 2015 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/., -?/. 2 - c.623G>A r.(?) p.(Arg208Gln) - benign, likely benign g.71819718G>A g.72108672G>A LRTOMT(NM_001145309.3):c.623G>A (p.R208Q) - LAMTOR1_000007 VKGL data sharing initiative Nederland, 45 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs61741195 CLASSIFICATION record, Germline - 45/2794 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
?/? 1 9 c.672C>G r.(?) p.(Asp224Glu) - VUS g.71819767C>G g.72108721C>G - - LRTOMT_000016 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/., ?/? 2 9 c.695C>T r.(?) p.(Ala232Val) - VUS g.71819790C>T g.72108744C>T LRTOMT(NM_001145309.3):c.695C>T (p.A232V) - LAMTOR1_000008 VKGL data sharing initiative Nederland MORL Deafness Variation Database, PubMed: Duzkale 2013 - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_Rotterdam, Global Variome, with Curator vacancy
-?/-? 1 9 c.844A>C r.(?) p.(Ile282Leu) - likely benign g.71819939A>C g.72108893A>C - - LRTOMT_000017 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
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