Unique variants in the FMO3 gene

Information The variants shown are described using the NM_001002294.2 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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Re-site     

VIP     

Methylation     

Owner     
-/- 1 _1 c.-979C>G - r.(=) p.(=) - benign g.171059150C>G g.171090009C>G -2650C>G - FMO3_000095 no effect on transcription in vitro PubMed: Koukouritaki et al. 2005 - rs1736560 Germline ? HapMap 0.332 (Eur), 0.558 (Jpn), 0.124 (Afr) - - - Ian Phillips
-/- 1 _1 c.-918C>T - r.(=) p.(=) - benign g.171059211C>T g.171090070C>T -2589C>T - FMO3_000096 no effect on transcription in vitro PubMed: Koukouritaki et al. 2005 - - Germline ? 0.040 (white American), 0.007 (African American), 0.007 (Hispanic American) - - - Ian Phillips
-/- 1 _1 c.-872T>A - r.(=) p.(=) - benign g.171059257T>A g.171090116T>A -2543T>A - FMO3_000097 no effect on transcription in vitro PubMed: Koukouritaki et al. 2005 - rs12404218 Germline ? HapMap 0.066 (Eur), 0.256 (Jpn), 0.080 (Afr) - - - Ian Phillips
?/? 1 _1 c.-506G>C - r.(=) p.(=) - VUS g.171059623G>C g.171090482G>C -2177G>C - FMO3_000098 increases transcription in vitro by up to 8-fold, effect in vivo unknown PubMed: Koukouritaki et al. 2005 - rs3754491 Germline ? HapMap 0.100 (Eur), 0.244 (Jpn), 0.075 (Afr) - - - Ian Phillips
?/? 1 _1 c.-435G>A - r.(=) p.(=) - VUS g.171059694G>A g.171090553G>A -2106G>A - FMO3_000099 decreases transcription in vitro, effect in vivo unknown PubMed: Koukouritaki et al. 2005 - rs16864006 Germline ? HapMap 0.000 (Eur), 0.000 (Asian), 0.031 (Afr) - - - Ian Phillips
?/? 1 _1 c.-428A>G - r.(=) p.(=) - VUS g.171059701A>G g.171090560A>G -2099A>G - FMO3_000100 effect unknown PubMed: Koukouritaki et al. 2005 - - Germline ? 0/1204 control chromosomes - - - Ian Phillips
+/+ 2 _1_2i c.-421_133-993del - r.(?), r.? p.? - pathogenic (recessive) g.171059708_171071933del g.171090567_171102792del g.-2092 to 10145del - FMO3_000091 Expected to affect metabolism of drug substrates of FMO3, 1 more item PubMed: Forrest et al. 2006 - - Germline, SUMMARY record -, yes - - - - Ian Phillips
?/? 1 _1 c.-290T>C - r.(=) p.(=) - VUS g.171059839T>C g.171090698T>C -1961T>C - FMO3_000101 no effect on transcription in vitro PubMed: Koukouritaki et al. 2005 - rs16864007 Germline ? HapMap 0.000 (Eur), 0.000 (Asian), 0.031 (Afr) - - - Ian Phillips
+/+ 1 4_9 c.[341A>G;1322T>C] - - p.[Asn114Ser;Ile441Thr] - NA g.[171076835A>G;171086305T>C] - - - FMO3_000000 1 more item PubMed: Shimizu 2012 - - In vitro (cloned) - - - - - Ornicha Prapapan
-/-, ?/? 2 2 c.72G>T - r.(?) p.(Glu24Asp), p.Glu24Asp - benign, NA g.171061871G>T g.171092730G>T g.72G>T - FMO3_000034 small increase in kcat/Km for TMA and methimazole; no effect for sulindac or ethylenethiourea PubMed: Koukouritaki 2005, PubMed: Koukouritaki 2007, 1 more item - - Germline, In vitro (cloned) -, no 2/400 chromosomes (non-Latino white), 0/404 (Hispanic American), 0/402 (African American) - - - Ornicha Prapapan
+/+ 3 2 c.94G>A - r.(?) p.(Glu32Lys), p.Glu32Lys - NA, pathogenic (recessive) g.171061893G>A g.171092752G>A g.94G>A - FMO3_000003 abolishes enzyme activity for TMA and for methimazole and 5-DPT, rare variant. Het in 1 individual, 1 more item PubMed: Zhang 2003, PubMed: Zhang et al. 2003 - rs72549320 Germline, In vitro (cloned) -, yes 0/98 chromosomes - - - Ornicha Prapapan
+/+ 1 2 c.110T>C - r.(?) p.(Ile37Thr) - pathogenic (recessive) g.171061909T>C g.171092768T>C g.110T>C - FMO3_000029 het in 1 Italian TMAU proband PubMed: Teresa et al. 2006 - - Germline yes 0/200 chromosomes - - - Ornicha Prapapan
+?/. 2 7 c.112G>T - r.(?) p.(Gly38Trp) - likely pathogenic (recessive) g.171061911G>T g.171092770G>T Gly38Trp - FMO3_000104 not in 200 control chromosomes PubMed: Ferreira 2013 - rs199975586 Germline ? - - - - Johan den Dunnen, Ornicha Prapapan
+?/. 1 - c.116G>A - r.(?) p.(Gly39Asp) - likely pathogenic g.171061915G>A g.171092774G>A - - FMO3_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/- 1 3 c.136C>A - r.(?) p.(His46Asn) - benign g.171072929C>A g.171103788C>A - - FMO3_000046 Rare variant. 1/140 chromosomes in Koreans PubMed: Park et al. 1999 - - Germline no 1/140 chromosomes - - - Ornicha Prapapan
+/+ 1 3 c.151A>G - r.(?) p.(Arg51Gly) - pathogenic (recessive) g.171072944A>G g.171103803A>G g.11145A>G - FMO3_000030 Rare variant. 1 homozygous proband. PubMed: Mazon Ramos et al. 2003 - - Germline yes - - - - Ornicha Prapapan
+/+ 1 3 c.154G>A - r.(?) p.(Ala52Thr) - pathogenic (recessive) g.171072947G>A g.171103806G>A g.11148G>T - FMO3_000018 Het in 1 of 8 patients PubMed: Akerman et al. 1999 - rs72549321 Germline yes 0/60 chromosomes - - - Ornicha Prapapan
+/+, ?/. 8 3 c.172G>A - r.(?) p.(Val58Ile), p.Val58Ile - NA, pathogenic (recessive), VUS g.171072965G>A g.171103824G>A g.11166G>A, g.16882G>A - FMO3_000007 1 homozygous; Clinindb (India), 1 Thai; impaired TMA N-oxygenation capacity, 4 more items PubMed: Kubota 2002, PubMed: Narang 2020, Journal: Narang 2020, PubMed: Shimizu 2012 - rs144935285, rs72549332 Germline, In vitro (cloned), SUMMARY record -, yes 1/2795 individuals, 16/2795 individuals, 6/1280 chromosomes - - - Ornicha Prapapan, Mohammed Faruq
+/+ 3 3 c.182A>G - r.(?) p.(Asn61Ser), p.Asn61Ser - NA, pathogenic (recessive) g.171072975A>G g.171103834A>G g.11177A>G - FMO3_000002 abolishes N-oxygenation of TMA, but no effect on S-oxygenation of methimazole, 2 more items PubMed: Dolphin 2000, PubMed: Dolphin et al. 2000 - rs72549322, rs72549331 Germline, In vitro (cloned), SUMMARY record -, yes 0/118 chromosomes - - - Ornicha Prapapan
+/+ 3 3 c.183C>A - r.(?) p.(Asn61Lys), p.Asn61Lys - NA, pathogenic (recessive) g.171072976C>A g.171103835C>A g.11177C>A - FMO3_000035 3 more items PubMed: Koukouritaki 2005, PubMed: Koukouritaki 2007, 1 more item - - Germline, In vitro (cloned), SUMMARY record -, ? see Remarks - - - Ornicha Prapapan
+/+ 2 3 c.192del - r.(?) p.(Glu65Argfs*2) - pathogenic (recessive) g.171072985del g.171103844del A191 deletion; g.11185delA - FMO3_000036 Expected to affect metabolism of drug substrates of FMO3, 1 more item PubMed: Zhang et al. 2003 - - Germline, SUMMARY record -, yes 0/174 Chromosomes - - - Ornicha Prapapan
+/+ 3 3 c.198G>T - r.(?) p.(Met66Ile), p.Met66Ile - NA, pathogenic (recessive) g.171072991G>T g.171103850G>T g.11192G>T - FMO3_000012 abolishes activity for TMA, Rare variant. 2 probands of Irish origin., 1 more item PubMed: Treacy 1998,PubMed: Akerman 1999, PubMed: Akerman et al. 1999, PubMed: Treacy et al. 1998 - rs72549323 Germline, In vitro (cloned), SUMMARY record -, yes 0/360 - - - Ornicha Prapapan
+/+, +/. 5 3 c.209C>T - r.(?) p.(Pro70Leu), p.Pro70Leu - NA, pathogenic (recessive) g.171073002C>T g.171103861C>T g.16919C>T - FMO3_000014 expected to influence metabolism of drug (xenobiotic) substrates of FMO3 that undergo N-oxygenation, 1 more item PubMed: Fujieda 2003, PubMed: Shimizu 2012 - - Germline, In vitro (cloned), SUMMARY record -, yes 2/1280 chromosomes - - - Johan den Dunnen, Ornicha Prapapan
+/+ 3 3 c.245T>C - r.(?) p.(Met82Thr), p.Met82Thr - NA, pathogenic (recessive) g.171073038T>C g.171103897T>C g.11239T>C - FMO3_000019 abolishes activity for TMA and methimazole, 2 more items PubMed: Murphy 2000, PubMed: Murphy et al. 2000 - rs72549324 Germline, In vitro (cloned), SUMMARY record -, yes 0/50 chromosomes - - - Ornicha Prapapan
-/-, -?/. 3 4 c.341A>G - r.(?) p.(Asn114Ser) - benign, likely benign g.171076835A>G g.171107694A>G g.15036A>G - FMO3_000005 classification based on frequency in 305 unrelated individuals, 1 more item PubMed: Le 2019, PubMed: Shimizu 2012, PubMed: Shimizu et al. 2007 - rs186763441 Germline no 0/100 chromosomes, 1/1280 chromosomes, frequency 0.014 - - - Global Variome, with Curator vacancy, Ornicha Prapapan
+?/+? 3 4 c.394G>C - r.(?) p.(Asp132His), p.Asp132His - likely pathogenic (recessive), NA g.171076888G>C g.171107747G>C g.15089G>C - FMO3_000033 expected to have a moderate substrate-dependent effect on metabolism of drug substrates of FMO3, 2 more items PubMed: Cashman 2003, PubMed: Furnes et al. 2003, PubMed: Lattard et al. 2003 - rs12072582 Germline, In vitro (cloned), SUMMARY record -, ? - - - - Ornicha Prapapan
?/? 1 4 c.428T>A - r.(?) p.(Val143Glu) - VUS g.171076922T>A g.171107781T>A g.15123T>A - FMO3_000020 1 more item PubMed: Basarab et al. 1999 - - Germline yes 6/88 chromosomes - - - Ornicha Prapapan
+?/-, -/-, -/. 6 4 c.441C>T - r.(=), r.(?) p.(=), p.(Ser147=) - benign, likely pathogenic g.171076935C>T g.171107794C>T 15019A>C (S147S), 20852C>T, Ser147Ser - FMO3_000092 VKGL data sharing initiative Nederland PubMed: Ferreira 2013, PubMed: Fujieda 2003, PubMed: Koukouritaki et al. 2005 - rs1800822 CLASSIFICATION record, Germline no HapMap 0.066 (Eur), 0.227 (Jpn), 0.031 (Afr) - - - Johan den Dunnen, Ian Phillips, VKGL-NL_Nijmegen
+/+ 1 4 c.442G>T - r.(?) p.(Gly148*) - pathogenic (recessive) g.171076936G>T g.171107795G>T g.15137G>T - FMO3_000006 1 more item PubMed: Park et al. 1999 - rs72549325 Germline ? 1/140 chromosomes - - - Ornicha Prapapan
-/- 1 4 c.445C>T - r.(?) p.(His149Tyr) - benign g.171076939C>T g.171107798C>T - - FMO3_000055 Rare variant. 1 in 140 Korean chromosomes. PubMed: Park et al. 1999 - - Germline no 1/140 chromosomes - - - Ornicha Prapapan
+/+ 5 4 c.458C>T - r.(?) p.(Pro153Leu), p.Pro153Leu - NA, pathogenic (recessive) g.171076952C>T g.171107811C>T g.15153C>T, Pro153Leu - FMO3_000001 abolishes activity for TMA and methimazole, not in 200 control chromosomes, 2 more items PubMed: Mayatepek 2004, PubMed: Treacy 1998, PubMed: Dolphin 1997, PubMed: Ferreira 2013, 1 more item - rs72549326 Germline, In vitro (cloned) -, yes 0/60 chromosomes - - - Johan den Dunnen, Ornicha Prapapan
+?/-, +?/., +?/?, -/-, -/., ?/., ?/? 27 4 c.472G>A - r.(?) p.(Glu158Lys), p.Glu158Lys - benign, likely pathogenic, likely pathogenic (recessive), NA, VUS g.171076966G>A g.171107825G>A FMO3(NM_001002294.3):c.472G>A (p.E158K), g.15167G>A, Glu158Lys - FMO3_000008 caffeine and clozapine: no effect on metabolism, not in 200 control chromosomes, 5 more items PubMed: Soderberg 2012, PubMed: Dolphin 1997, PubMed: Treacy 1998, PubMed: Zschocke 1999, 5 more items - rs2266782, rs72549321 CLASSIFICATION record, Germline, In vitro (cloned) -, no, yes - - - - Johan den Dunnen, Elizabeth A. Shephard, Ornicha Prapapan, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 1 4i c.484+65_484+67del - r.(=) p.(=) - benign g.171077043_171077045del g.171107902_171107904del 20960_20962delCTT - FMO3_000110 - PubMed: Fujieda 2003 - - Germline - - - - - Johan den Dunnen
-/. 1 4i c.485-22G>A - r.(=) p.(=) - benign g.171077198G>A g.171108057G>A 21115G>A - FMO3_000111 - PubMed: Fujieda 2003 - - Germline - - - - - Johan den Dunnen
+/+ 2 5 c.517A>C - r.(?) p.(Ser173Arg), p.Ser173Arg - NA, pathogenic (recessive) g.171077252A>C g.171108111A>C S173R - FMO3_000102 impaired benzydamine N-oxygenation in compound het with P153L, 1 more item PubMed: Mayatepek 2004, PubMed: Mayatepek et al. 2004 - - Germline, In vitro (cloned) -, ? - - - - Elizabeth A. Shephard
+?/-, -/- 4 5 c.539G>T - r.(?) p.(Gly180Val), p.Gly180Val - benign, likely pathogenic, NA g.171077274G>T g.171108133G>T g.15475G>T, Glu180Val - FMO3_000042 no effect on N-oxygenation of TMA or S-oxygenation of methimazole, not in 200 control chromosomes, 1 more item PubMed: Dolphin 2000, PubMed: Dolphin et al. 2000, PubMed: Teresa et al. 2006, PubMed: Ferreira 2013 - rs75904274 Germline, In vitro (cloned) -, no 2/24 caucasian - - - Johan den Dunnen, Ornicha Prapapan
+/+, -?/-? 3 5 c.560T>C - r.(?) p.(Val187Ala), p.Val187Ala - NA, pathogenic (recessive) g.171077295T>C g.171108154T>C - - FMO3_000070 Expected to affect metabolism of drug substrates of FMO3, when in cis with p.Glu158Lys, 2 more items PubMed: Motika 2009, PubMed: Motika et al. 2009 - rs28363549 Germline, In vitro (cloned) -, yes - - - - Ornicha Prapapan
+/+ 4 5 c.584C>T - r.(?) p.(Ser195Leu), p.Ser195Leu - NA, pathogenic (recessive) g.171077319C>T g.171108178C>T g.21236C>T - FMO3_000017 Expected to affect N-oxygenation of drug substrates of FMO3, 1 more item PubMed: Park 1999, PubMed: Shimizu 2012 - - Germline, In vitro (cloned), SUMMARY record -, yes 1/1280 chromosomes, 1/140 chromosomes - - - Ornicha Prapapan
+/+ 4 5 c.591_592del - r.(?) p.(Cys197*) - pathogenic (recessive) g.171077326_171077327del g.171108185_171108186del Cys197stop, g.21243_21244TGdel - FMO3_000037 - PubMed: Shimizu 2012, PubMed: Yamazaki 2007 - rs3832024 Germline yes - - - - Ornicha Prapapan
+/+ 1 5 c.591_594delinsAA - r.(?) p.(Cys197*) - pathogenic (recessive) g.171077326_171077329delinsAA g.171108185_171108188delinsAA 21243_21244delTG, 21246T>A (Asp198Glu) - FMO3_000109 - PubMed: Fujieda 2003 - rs3832024 Germline yes - - - - Ornicha Prapapan
?/? 1 5 c.594T>A - r.(?) p.(Asp198Glu) - VUS g.171077329T>A g.171108188T>A g.15531T>A - FMO3_000021 1 more item PubMed: Fujieda et al. 2003, Shimizu et al. (in press) - - Germline yes 0/44 chromosomes - - - Ornicha Prapapan
+?/+? 1 5 c.596T>C - r.(?) p.(Ile199Thr) - likely pathogenic (recessive) g.171077331T>C g.171108190T>C g.155533T>C - FMO3_000022 Rare variant. 2 het probands. Probably causative of TMAU PubMed: Zschocke et al. 1999 - - Germline yes - - - - Ornicha Prapapan
+/+ 3 5 c.602C>A - r.(?) p.(Thr201Lys), p.Thr201Lys - NA, pathogenic (recessive) g.171077337C>A g.171108196C>A g.15539C>A - FMO3_000088 Expected to affect metabolism of drug substrates of FMO3, 2 more items PubMed: Shimizu 2006, PubMed: Shimizu et al. 2006 - rs72549324 Germline, In vitro (cloned), SUMMARY record -, yes 0/70 chromosomes - - - Ornicha Prapapan
+/+, -?/-? 8 5 c.613C>T - r.(?) p.(Arg205Cys), p.Arg205Cys - likely benign, NA, pathogenic (recessive) g.171077348C>T g.171108207C>T 21265C>T, Arg205Cys, g.21265C>T - FMO3_000041 75% reduction in activity for TMA, Expected to affect metabolism of drug substrates of FMO3, 2 more items PubMed: Fujieda 2003, PubMed: Shimizu 2007, PubMed: Shimizu 2012, PubMed: Yamazaki 2007 - rs2266782, rs28363549 Germline, In vitro (cloned), SUMMARY record -, no, yes 2/27 cases - - - Ornicha Prapapan
-/., ?/- 5 5i c.627+10C>G - r.(=), r.(?) p.(=) - benign, VUS g.171077372C>G g.171108231C>G FMO3(NM_001002294.3):c.627+10C>G, IVS5+10C>G - FMO3_000108 not in 200 control chromosomes, VKGL data sharing initiative Nederland PubMed: Ferreira 2013 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/+ 2 6 c.668G>A - r.(?) p.(Arg223Gln) - pathogenic (recessive) g.171079979G>A g.171110838G>A g.18177G>A - FMO3_000004 Expected to affect metabolism of drug substrates of FMO3, 1 more item Preti et al. 2002 J. Invest Dermatol 119, 244 - rs2266780 Germline, SUMMARY record -, yes 0/88 chromosomes - - - Ornicha Prapapan
+?/. 1 6 c.695A>T - r.(?) p.(Asp232Val) - likely pathogenic (recessive) g.171080006A>T g.171110865A>T - - FMO3_000105 - PubMed: Ferreira 2013 - - Germline - - - - - Elizabeth A. Shephard
+/+ 3 6 c.713G>A - r.(?) p.(Arg238Gln), p.Arg238Gln - NA, pathogenic (recessive) g.171080024G>A g.171110883G>A g.18225G>A - FMO3_000044 abolished activity, impaired benzydamine N-oxygenation in homozygotes, 1 more item PubMed: Mayatepek 2004, PubMed: Mayatepek 2004, PubMed: Allerston 2009, 1 more item - - Germline, In vitro (cloned) -, yes - - - - Ornicha Prapapan
+/+ 1 6 c.713G>C - r.(?) p.(Arg238Pro) - pathogenic (recessive) g.171080024G>C g.171110883G>C g.18225G>C - FMO3_000023 1 Italian proband who exhibits fishy body odour. Compound het for R238P and G475D PubMed: Teresa et al. 2006 - - Germline yes 0/200 chromosomes - - - Ornicha Prapapan
+?/-, -/-, -/., ?/? 6 6 c.769G>A - r.(?) p.(Val257Met), p.Val257Met - benign, likely pathogenic, NA g.171080080G>A g.171110939G>A g.18281G>A, Val257Met - FMO3_000009 no effect on metabolism of caffeine or clozapine, not in 200 control chromosomes, 3 more items PubMed: Dolphin 2000, PubMed: Teresa 2006, PubMed: Ferreira 2013, PubMed: Sachse 1999, 1 more item - rs1736557 CLASSIFICATION record, Germline, In vitro (cloned) -, no - - - - Johan den Dunnen, Ornicha Prapapan, VKGL-NL_Nijmegen
+/+ 3 6 c.778A>G - r.(?) p.(Met260Val), p.Met260Val - NA, pathogenic (recessive) g.171080089A>G g.171110948A>G g.18290A>G - FMO3_000031 expected to affect N-oxygenation and S-oxygenation of drug substrates of FMO3, 2 more items PubMed: Shimizu 2006, PubMed: Shimizu et al. 2006 - - Germline, In vitro (cloned), SUMMARY record -, yes - - - - Ornicha Prapapan
?/. 1 - c.818C>G - r.(?) p.(Pro273Arg) - VUS g.171080129C>G g.171110988C>G FMO3(NM_001319173.1):c.758C>G (p.P253R) - FMO3_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.830T>C - r.(?) p.(Val277Ala) - likely benign g.171083149T>C g.171114009T>C - - FMO3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/-, -/-, -/., ?/- 6 7 c.855C>T - r.(=), r.(?) p.(=), p.(Asn285=) - benign, likely pathogenic, VUS g.171083174C>T g.171114034C>T 21375C>T (Asn285Asn), Asn285Asn, FMO3(NM_001002294.3):c.855C>T (p.N285=) - FMO3_000093 VKGL data sharing initiative Nederland PubMed: Ferreira 2013, PubMed: Koukouritaki et al. 2005 - rs909530 CLASSIFICATION record, Germline no HapMap 0.279 (Eur), 0.407 (Jpn), 0.540 (Afr) - - - Johan den Dunnen, Ian Phillips, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/+, +/. 4 7 c.913G>T - r.(?) p.(Glu305*), p.(Glu305Ter), p.Glu305* - NA, pathogenic, pathogenic (recessive) g.171083232G>T g.171114092G>T g.21429G>T - FMO3_000010 abolishes activity, VKGL data sharing initiative Nederland, 2 more items PubMed: Mayatepek 2004, PubMed: Treacy 1998, PubMed: Akerman 1999, 1 more item - rs61753344 CLASSIFICATION record, Germline, In vitro (cloned) -, yes 1/320 chromosomes - - - Ornicha Prapapan, VKGL-NL_Nijmegen
+?/- 1 7 c.919A>C - r.(?) p.(Thr307Pro ) - likely pathogenic g.171083238A>C g.171114098A>C Thr307Pro - FMO3_000112 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - - - Johan den Dunnen
+?/-, -/-, ?/., ?/? 12 7 c.923A>G - r.(?) p.(Glu308Gly), p.Glu308Gly - benign, likely pathogenic, NA, VUS g.171083242A>G g.171114102A>G g.21443A>G, Glu308Gly - FMO3_000083 caffeine and clozapine: no effect on metabolism, not in 200 control chromosomes, 5 more items PubMed: Soderberg 2012, PubMed: Ferreira 2013, PubMed: Sachse 1999, PubMed: Shimizu 2012, 3 more items - rs2266780, rs3832024 CLASSIFICATION record, Germline, In vitro (cloned) -, yes - - - - Johan den Dunnen, Ornicha Prapapan, VKGL-NL_Nijmegen
+?/. 1 7 c.929C>T - r.(?) p.(Ser310Leu) - likely pathogenic (recessive) g.171083248C>T g.171114108C>T Ser310Leu - FMO3_000113 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - - - Johan den Dunnen
+/+ 1 7 c.940G>T - r.(?) p.(Glu314*) - pathogenic (recessive) g.171083259G>T g.171114119G>T g.21460G>T - FMO3_000107 Rare variant. 1 German/Russian het, compound with P153L PubMed: Akerman et al. 1999 - rs72549330 Germline yes 0/60 chromosomes - - - Ornicha Prapapan
+/+ 3 7 c.1079T>C - r.(?) p.(Leu360Pro), p.Leu360Pro - NA, pathogenic (recessive) g.171083398T>C g.171114258T>C g.21599T>C - FMO3_000043 expected to increase rate of metabolism of N- and S-oxygenation of drug substrates of FMO3, 2 more items PubMed: Furnes 2003, PubMed: Lattard 2003, PubMed: Furnes et al. 2003, PubMed: Lattard et al. 2003 - rs28363581 Germline, In vitro (cloned), SUMMARY record -, no - - - - Ornicha Prapapan
?/., ?/? 2 7 c.1084G>C - r.(?) p.(Glu362Gln) - VUS g.171083403G>C g.171114263G>C g.21604G>C - FMO3_000039 VKGL data sharing initiative Nederland, 1 more item PubMed: Cashman et al. 2002, PubMed: Furnes et al. 2003, - rs2066532 CLASSIFICATION record, Germline no - - - - Ornicha Prapapan, VKGL-NL_Nijmegen
+?/- 1 7 c.(1118dup) - r.(?) p.(Ser374Valfs*10) - likely pathogenic g.171083437dup g.171114297dup Gln373GlnfsX11 - FMO3_000114 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1159C>T - r.(?) p.(Arg387Cys) - VUS g.171083478C>T g.171114338C>T - - FMO3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 7 c.1160G>T - r.(?) p.(Arg387Leu) - pathogenic (recessive) g.171083479G>T g.171114339G>T g.21680G>T - FMO3_000025 Rare variant. 1 homozygous Metis proband PubMed: Akerman et al. 1999 - rs72549331 Germline yes 0/60 chromosomes - - - Ornicha Prapapan
+?/. 1 7 c.1163G>T - r.(?) p.(Trp388Leu) - likely pathogenic (recessive) g.171083482G>T g.171114342G>T Trp388Leu - FMO3_000069 - PubMed: Ferreira 2013 - rs199975586 Germline - - - - - Johan den Dunnen
+/+ 2 7 c.1164G>A - r.(?) p.(Trp388*), p.Trp388* - NA, pathogenic (recessive) g.171083483G>A g.171114343G>A g.21684G>A - FMO3_000026 abolishes activity for TMA, Rare variant. Truncated protein. Causative of TMAU PubMed: Shimizu 2007 - rs72549325 Germline, In vitro (cloned) -, yes 0/100 chromosomes - - - Ornicha Prapapan
+/+ 2 7 c.1184del - r.(?) p.(Gly395Glufs*11) - pathogenic (recessive) g.171085348del g.171116208del c.1182delG; g.21702delG; M405fsX - FMO3_000038 Expected to affect metabolism of drug substrates of FMO3, 1 more item PubMed: Teresa et al. 2006 - rs61757397 Germline, SUMMARY record -, yes - - - - Ornicha Prapapan
+/+ 2 8 c.1247_1248delinsT - r.(?) p.(Lys416Ilefs*72) - pathogenic (recessive) g.171085411_171085412delinsT g.171116271_171116272delinsT g.23612-23613AG>T; c.AG1246T - FMO3_000090 Expected to affect metabolism of drug substrates of FMO3, 1 more item PubMed: Motika et al. 2009 - rs144935285 Germline, SUMMARY record -, yes - - - - Ian Phillips, Ornicha Prapapan
-/-, -?/-? 3 8 c.1248G>T - r.(?) p.(Lys416Asn), p.Lys416Asn - benign, likely benign, NA g.171085412G>T g.171116272G>T g.23613G>T - FMO3_000032 possible limited substrate-dependent effect on metabolism of drug substrates of FMO3, 2 more items PubMed: Koukouritaki 2005, PubMed: Koukouritaki 2007, 1 more item - - Germline, In vitro (cloned), SUMMARY record -, no - - - - Ornicha Prapapan
?/? 2 8 c.1250G>T - r.(?) p.(Arg417Leu) - VUS g.171085414G>T g.171116274G>T Arg417Leu - FMO3_000115 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - - - Johan den Dunnen
+/+ 4 9 c.1262G>T - r.(?) p.(Gly421Val), p.Gly421Val - NA, pathogenic (recessive) g.171086245G>T g.171117105G>T g.30162G>T (Gly421Val) - FMO3_000013 expected to affect N-oxygenation of drug substrates of FMO3, 1 more item PubMed: Shimizu 2012 - rs61757397 Germline, In vitro (cloned), SUMMARY record -, yes 2/1280 chromosomes - - - Ornicha Prapapan
?/? 2 9 c.1282A>T - r.(?) p.(Thr428Ser) - VUS g.171086265A>T g.171117125A>T Thr428Ser - FMO3_000080 not in 200 control chromosomes PubMed: Ferreira 2013 - - Germline - - - - - Johan den Dunnen
+/+ 3 9 c.1302G>A - r.(?) p.(Met434Ile), p.Met434Ile - NA, pathogenic (recessive) g.171086285G>A g.171117145G>A g.24486G>A - FMO3_000024 abolishes activity for TMA and methimazole, Rare variant. 1 het proband compound with R492W, 1 more item PubMed: Dolphin 2000, PubMed: Dolphin et al. 2000 - rs72549330, rs72549332 Germline, In vitro (cloned), SUMMARY record -, yes 0/74 chromosomes - - - Ornicha Prapapan
+/+ 1 9 c.(1309_1596del) - r.(?) p.Leu437* - NA g.171086292_171086579del g.171117152_171117439del - - FMO3_000000 cDNA expression cloning in E.coli shows no N-oxygenation activity PubMed: Yamazaki 2007 - - In vitro (cloned) - - - - - Johan den Dunnen
+/+ 2 9 c.1322T>C - r.(?) p.(Ile441Thr) - pathogenic (recessive) g.171086305T>C g.171117165T>C g.30222T>C (Ile441Thr) - FMO3_000081 Expected to affect N-oxygenation of drug substrates of FMO3 PubMed: Shimizu 2012 - - Germline, SUMMARY record -, yes 1/1280 chromosomes - - - Ornicha Prapapan
+/+ 1 9 c.(1399_1596del) - r.(?) p.Ser467* - NA g.171086382_171086579del g.171117242_171117439del - - FMO3_000000 cDNA expression cloning in E.coli shows no N-oxygenation activity PubMed: Yamazaki 2007 - - In vitro (cloned) - - - - - Johan den Dunnen
+/+ 1 9 c.1408C>T - r.(?) p.(Gln470*) - pathogenic (recessive) g.171086391C>T g.171117251C>T g.30308C>T, g.24592C>T - FMO3_000028 Rare variant. Truncated protein. 1 het Japanese, compound het with E158K-E308G PubMed: Shimizu et al. 2007 - - Germline yes 0/100 chromosomes - - - Ornicha Prapapan
+?/+? 1 9 c.1424G>A - r.(?) p.(Gly475Asp) - likely pathogenic (recessive) g.171086407G>A g.171117267G>A g.24608G>A - FMO3_000015 Rare variant. 2 proband hets, one compound with p.Arg238Pro. Probably causative of TMAU. PubMed: Zschocke et al. 1999, PubMed: Teresa et al. 2006 - rs72549333 Germline yes 0/200 chromosomes - - - Ornicha Prapapan
?/. 1 - c.1435T>C - r.(?) p.(Trp479Arg) - VUS g.171086418T>C g.171117278T>C - - FMO3_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 3 9 c.1462A>G - r.(?) p.(Thr488Ala), p.Thr488Ala - likely pathogenic (recessive), NA g.171086445A>G g.171117305A>G - - FMO3_000106 expected to have moderate effect on N-oxygenation of drug substrates of FMO3, 1 more item PubMed: Shimizu 2012 - - Germline, In vitro (cloned), SUMMARY record -, ? 2/1280 chromosomes - - - Ornicha Prapapan
+/+ 3 9 c.1474C>T - r.(?) p.(Arg492Trp), p.Arg492Trp - NA, pathogenic (recessive) g.171086457C>T g.171117317C>T g.24658C>T - FMO3_000011 abolishes activity for TMA and methimazole, 2 more items PubMed: Akerman 1999, PubMed: Akerman 1999, PubMed: Dolphin 2000, 1 more item - rs72549334 Germline, In vitro (cloned), SUMMARY record -, yes 0/394 chromosomes - - - Ornicha Prapapan
-?/. 1 - c.1479G>A - r.(?) p.(Ser493=) - likely benign g.171086462G>A g.171117322G>A - - FMO3_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 9 9 c.1498C>T - r.(?) p.(Arg500*), p.Arg500* - NA, pathogenic (recessive) g.171086481C>T g.171117341C>T Arg500stop, g.24682C>T, g.30398 C>T, g.30398C>T - FMO3_000016 abolishes activity for TMA and 5-DPT, 2 more items PubMed: Shimizu 2006, PubMed: Shimizu 2012, PubMed: Yamazaki 2007 - - Germline, In vitro (cloned), SUMMARY record -, yes - - - - Ornicha Prapapan
+?/. 1 - c.1499G>A - r.(?) p.(Arg500Gln) - likely pathogenic g.171086482G>A g.171117342G>A - - FMO3_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 1 9 c.1507G>A - r.(?) p.(Gly503Arg) - VUS g.171086490G>A g.171117350G>A G1507A, g.24691G>C - FMO3_000045 - PubMed: Furnes et al. 2003 - rs72549335 Germline ? 1/100 chromosomes (African American). - - - Ornicha Prapapan
+/+ 1 9 c.(1529_1597del) - r.(?) p.Phe510* - NA g.171086512_171086580del g.171117372_171117440del - - FMO3_000000 cDNA expression cloning in E.coli shows 0.01 N-oxygenation activity PubMed: Yamazaki 2007 - - In vitro (cloned) - - - - - Johan den Dunnen
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