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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


277 records found for search term Fmo3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
28896346CV862801single nucleotide variantNM_001002294.3(FMO3):c.*4T>CTrimethylaminuria [RCV001102175]uncertain significance1171117446171117446Human2name
11593517CV278457single nucleotide variantNM_001002294.3(FMO3):c.-25G>ATrimethylaminuria [RCV000349537]|not provided [RCV005411401]benign|uncertain significance1171090963171090963Human2name
11588127CV278468single nucleotide variantNM_001002294.3(FMO3):c.*52G>ATrimethylaminuria [RCV000300480]uncertain significance1171117494171117494Human2name
329955238CV2671181single nucleotide variantNM_001002294.3(FMO3):c.-6-1G>Cnot specified [RCV003236455]uncertain significance1171092652171092652Humanname
11593849CV277608single nucleotide variantNM_001002294.3(FMO3):c.*364C>TTrimethylaminuria [RCV000352998]uncertain significance1171117806171117806Human2name
11582661CV278469single nucleotide variantNM_001002294.3(FMO3):c.*374A>GTrimethylaminuria [RCV000261426]uncertain significance1171117816171117816Human2name
28896348CV862802single nucleotide variantNM_001002294.3(FMO3):c.*261A>GTrimethylaminuria [RCV001102176]uncertain significance1171117703171117703Human2name
11542950CV249534single nucleotide variantNM_001002294.3(FMO3):c.132+1G>Tnot provided [RCV000241810]likely pathogenic|likely benign1171092791171092791Humanname
11581539CV278470single nucleotide variantNM_001002294.3(FMO3):c.628-6T>CTrimethylaminuria [RCV000374206]|not provided [RCV000900317]likely benign|uncertain significance1171110792171110792Human2name
405044903CV2859854single nucleotide variantNM_001002294.3(FMO3):c.322-6T>Cnot provided [RCV003579381]likely benign1171107669171107669Humanname
402473957CV2919586single nucleotide variantNM_001002294.3(FMO3):c.484+2T>GTrimethylaminuria [RCV005013048]|not provided [RCV003571104]likely pathogenic1171107839171107839Human2name
405067741CV2923944single nucleotide variantNM_001002294.3(FMO3):c.628-1G>Anot provided [RCV003580927]likely pathogenic1171110797171110797Humanname
405237873CV2970070single nucleotide variantNM_001002294.3(FMO3):c.827+9G>Anot provided [RCV003683412]likely benign1171111006171111006Humanname
405254791CV2978644single nucleotide variantNM_001002294.3(FMO3):c.133-2A>Gnot provided [RCV003723172]likely pathogenic1171103783171103783Humanname
405214151CV2981336single nucleotide variantNM_001002294.3(FMO3):c.132+9C>Gnot provided [RCV003709093]likely benign1171092799171092799Humanname
404996623CV2992572single nucleotide variantNM_001002294.3(FMO3):c.321+1G>Tnot provided [RCV003692763]likely pathogenic1171103974171103974Humanname
405248693CV3003627single nucleotide variantNM_001002294.3(FMO3):c.484+1G>Anot provided [RCV003721098]likely pathogenic1171107838171107838Humanname
405253997CV3045046single nucleotide variantNM_001002294.3(FMO3):c.322-8T>Cnot provided [RCV003722720]likely benign1171107667171107667Humanname
405255576CV3172557single nucleotide variantNM_001002294.3(FMO3):c.627+9C>Tnot provided [RCV003872495]likely benign1171108230171108230Humanname
405281942CV3224400single nucleotide variantNM_001002294.3(FMO3):c.828-2A>GTrimethylaminuria [RCV003988783]likely pathogenic1171114005171114005Human2name
597669625CV3706922single nucleotide variantNM_001002294.3(FMO3):c.132+1G>ATrimethylaminuria [RCV005004647]likely pathogenic1171092791171092791Human2name
597669665CV3707025single nucleotide variantNM_001002294.3(FMO3):c.828-2A>TTrimethylaminuria [RCV005004681]likely pathogenic1171114005171114005Human2name
597918013CV3767954single nucleotide variantNM_001002294.3(FMO3):c.133-9C>Tnot provided [RCV005114755]likely benign1171103776171103776Humanname
597950076CV3768578single nucleotide variantNM_001002294.3(FMO3):c.628-2A>Gnot provided [RCV005120764]likely pathogenic1171110796171110796Humanname
11542874CV249535single nucleotide variantNM_001002294.3(FMO3):c.321+31C>Anot provided [RCV004710661]|not specified [RCV000241714]likely benign1171104004171104004Humanname
11550924CV249539single nucleotide variantNM_001002294.3(FMO3):c.485-22G>ATrimethylaminuria [RCV001701968]|not provided [RCV004714590]|not specified [RCV000252379]benign1171108057171108057Human2name
11548343CV249541single nucleotide variantNM_001002294.3(FMO3):c.627+10C>GTrimethylaminuria [RCV000321968]|not provided [RCV003660773]|not specified [RCV000248966]benign1171108231171108231Human2name
405090543CV2859351single nucleotide variantNM_001002294.3(FMO3):c.627+10C>Tnot provided [RCV003549851]likely benign1171108231171108231Humanname
405042515CV2862955single nucleotide variantNM_001002294.3(FMO3):c.132+11T>Cnot provided [RCV003579224]likely benign1171092801171092801Humanname
405209577CV2866964single nucleotide variantNM_001002294.3(FMO3):c.828-13G>Cnot provided [RCV003552400]likely benign1171113994171113994Humanname
405194566CV2872388single nucleotide variantNM_001002294.3(FMO3):c.627+11C>Tnot provided [RCV003550666]likely benign1171108232171108232Humanname
405160179CV2898365deletionNM_001002294.3(FMO3):c.1183+1delnot provided [RCV003562312]pathogenic1171114361171114361Humanname
405140721CV2900861single nucleotide variantNM_001002294.3(FMO3):c.132+15G>Cnot provided [RCV003560826]likely benign1171092805171092805Humanname
405217797CV2907360single nucleotide variantNM_001002294.3(FMO3):c.1184-5A>Gnot provided [RCV003568005]likely benign1171116203171116203Humanname
405035001CV2923439single nucleotide variantNM_001002294.3(FMO3):c.1257-7T>Cnot provided [RCV003578628]likely benign1171117093171117093Humanname
405238255CV2970069single nucleotide variantNM_001002294.3(FMO3):c.627+15G>Anot provided [RCV003683411]likely benign1171108236171108236Humanname
405235275CV2976484single nucleotide variantNM_001002294.3(FMO3):c.627+12C>Tnot provided [RCV003682968]likely benign1171108233171108233Humanname
405247848CV2976912single nucleotide variantNM_001002294.3(FMO3):c.485-19T>Cnot provided [RCV003685783]likely benign1171108060171108060Humanname
405230346CV2977407single nucleotide variantNM_001002294.3(FMO3):c.627+20C>Tnot provided [RCV003711330]likely benign1171108241171108241Humanname
405199627CV2982455single nucleotide variantNM_001002294.3(FMO3):c.827+18G>Anot provided [RCV003678054]likely benign1171111015171111015Humanname
405231078CV2988282single nucleotide variantNM_001002294.3(FMO3):c.827+19T>Cnot provided [RCV003711532]benign1171111016171111016Humanname
402496481CV2988710single nucleotide variantNM_001002294.3(FMO3):c.828-12T>Cnot provided [RCV003714309]likely benign1171113995171113995Humanname
405238860CV2996890single nucleotide variantNM_001002294.3(FMO3):c.132+12G>Anot provided [RCV003718743]likely benign1171092802171092802Humanname
402485846CV2998907single nucleotide variantNM_001002294.3(FMO3):c.1257-6C>Tnot provided [RCV003687045]likely benign1171117094171117094Humanname
402501154CV3010518single nucleotide variantNM_001002294.3(FMO3):c.1184-2A>Gnot provided [RCV003688505]likely pathogenic1171116206171116206Humanname
402500090CV3013047single nucleotide variantNM_001002294.3(FMO3):c.827+17C>Tnot provided [RCV003688400]likely benign1171111014171111014Humanname
597918719CV3768528single nucleotide variantNM_001002294.3(FMO3):c.133-11T>Cnot provided [RCV005114891]likely benign1171103774171103774Humanname
597974567CV3831718single nucleotide variantNM_001002294.3(FMO3):c.827+17C>Anot provided [RCV005168657]likely benign1171111014171111014Humanname
28885952CV865034single nucleotide variantNM_001002294.3(FMO3):c.132+13T>CTrimethylaminuria [RCV001098307]|not provided [RCV005093473]likely benign|uncertain significance1171092803171092803Human2name
28896110CV865035single nucleotide variantNM_001002294.3(FMO3):c.484+13T>CTrimethylaminuria [RCV001102083]uncertain significance1171107850171107850Human2name
28896120CV865036single nucleotide variantNM_001002294.3(FMO3):c.627+13G>ATrimethylaminuria [RCV001102086]uncertain significance1171108234171108234Human2name
11543851CV249545single nucleotide variantNM_001002294.3(FMO3):c.1183+35T>Cnot provided [RCV004713454]|not specified [RCV000243011]benign1171114397171114397Humanname
11546174CV249546duplicationNM_001002294.3(FMO3):c.1184-32dupnot specified [RCV000246118]benign1171116174171116175Humanname
405175609CV2864593single nucleotide variantNM_001002294.3(FMO3):c.1183+12A>Gnot provided [RCV003542730]likely benign1171114374171114374Humanname
405233099CV2985330single nucleotide variantNM_001002294.3(FMO3):c.1256+20T>Cnot provided [RCV003711746]likely benign1171116300171116300Humanname
597871976CV3768435single nucleotide variantNM_001002294.3(FMO3):c.1183+20C>Tnot provided [RCV005122814]likely benign1171114382171114382Humanname
597888086CV3804422single nucleotide variantNM_001002294.3(FMO3):c.1183+10T>Cnot provided [RCV005150873]likely benign1171114372171114372Humanname
597974689CV3831789single nucleotide variantNM_001002294.3(FMO3):c.1256+10C>Tnot provided [RCV005168728]likely benign1171116290171116290Humanname
405277579CV3195946single nucleotide variantNM_001002294.3(FMO3):c.133-2658A>TFMO3-related disorder [RCV003904470]likely benign1171101127171101127Humanname , trait , alternate_id
405035780CV3016709deletionNM_001002294.3(FMO3):c.825_827+16delnot provided [RCV003695931]likely pathogenic1171110991171111009Humanname
402522753CV2867424single nucleotide variantNM_001002294.3(FMO3):c.21C>T (p.Ile7=)not provided [RCV003547789]likely benign1171092679171092679Humanname
11546928CV249536microsatelliteNM_001002294.3(FMO3):c.321+44_321+46delnot specified [RCV000247102]likely benign1171104013171104015Humanname
402473828CV2857951deletionNM_001002294.3(FMO3):c.16del (p.Ala6fs)not provided [RCV003543029]pathogenic1171092673171092673Humanname
405033716CV3009396single nucleotide variantNM_001002294.3(FMO3):c.81G>A (p.Glu27=)not provided [RCV003695766]likely benign1171092739171092739Humanname
405029610CV3015662single nucleotide variantNM_001002294.3(FMO3):c.42C>T (p.Gly14=)not provided [RCV003695405]likely benign1171092700171092700Humanname
405180193CV3060537single nucleotide variantNM_001002294.3(FMO3):c.1A>G (p.Met1Val)not provided [RCV003728698]pathogenic1171092659171092659Humanname
405246036CV3075687deletionNM_001002294.3(FMO3):c.1184-9_1184-6delnot provided [RCV003738623]likely benign1171116197171116200Humanname
597969938CV3832090microsatelliteNM_001002294.3(FMO3):c.133-11_133-10delnot provided [RCV005166346]likely benign1171103772171103773Humanname
11582054CV277592single nucleotide variantNM_001002294.3(FMO3):c.225C>T (p.Pro75=)Trimethylaminuria [RCV000396110]|not provided [RCV003698755]likely benign|uncertain significance1171103877171103877Human2name
402468146CV3174191single nucleotide variantNM_001002294.3(FMO3):c.10A>T (p.Lys4Ter)not provided [RCV003873474]pathogenic1171092668171092668Humanname
329402617CV2451175single nucleotide variantNM_001002294.3(FMO3):c.29C>T (p.Ala10Val)Inborn genetic diseases [RCV003199531]uncertain significance1171092687171092687Human1name
11544352CV249538single nucleotide variantNM_001002294.3(FMO3):c.441C>T (p.Ser147=)Trimethylaminuria [RCV000304429]|not provided [RCV003669123]|not specified [RCV000243673]benign1171107794171107794Human2name
11544869CV249540single nucleotide variantNM_001002294.3(FMO3):c.585G>C (p.Ser195=)Trimethylaminuria [RCV002494744]|not provided [RCV003546496]|not specified [RCV000244370]benign|likely benign1171108179171108179Human2name
11548872CV249543single nucleotide variantNM_001002294.3(FMO3):c.855C>T (p.Asn285=)Trimethylaminuria [RCV000296336]|not provided [RCV003669124]|not specified [RCV000249666]benign1171114034171114034Human3name
11548872CV249543single nucleotide variantNM_001002294.3(FMO3):c.855C>T (p.Asn285=)Trimethylaminuria [RCV000296336]|not provided [RCV003669124]|not specified [RCV000249666]benign1171114034171114035Human3name
11546286CV249544single nucleotide variantNM_001002294.3(FMO3):c.969C>T (p.Asp323=)Trimethylaminuria [RCV001098407]|not provided [RCV003542292]|not specified [RCV000246258]benign|likely benign1171114148171114148Human2name
402485120CV2855257single nucleotide variantNM_001002294.3(FMO3):c.912G>A (p.Lys304=)not provided [RCV003544398]likely benign1171114091171114091Humanname
402488567CV2861943single nucleotide variantNM_001002294.3(FMO3):c.519C>T (p.Ser173=)not provided [RCV003544721]likely benign1171108113171108113Humanname
405208078CV2870443single nucleotide variantNM_001002294.3(FMO3):c.369C>T (p.Gly123=)not provided [RCV003552202]likely benign1171107722171107722Humanname
405224639CV2885567single nucleotide variantNM_001002294.3(FMO3):c.712C>A (p.Arg238=)not provided [RCV003554446]likely benign1171110882171110882Humanname
405049881CV2887029single nucleotide variantNM_001002294.3(FMO3):c.444A>T (p.Gly148=)not provided [RCV003579710]likely benign1171107797171107797Humanname
405182483CV2909495single nucleotide variantNM_001002294.3(FMO3):c.468A>C (p.Pro156=)not provided [RCV003564043]likely benign1171107821171107821Humanname
402524053CV2940438single nucleotide variantNM_001002294.3(FMO3):c.900G>A (p.Lys300=)not provided [RCV003663520]likely benign1171114079171114079Humanname
405247671CV2976755single nucleotide variantNM_001002294.3(FMO3):c.885C>T (p.Gly295=)not provided [RCV003685719]benign1171114064171114064Humanname
405223879CV2982899single nucleotide variantNM_001002294.3(FMO3):c.744G>A (p.Pro248=)not provided [RCV003681101]likely benign1171110914171110914Humanname
405010262CV2990266deletionNM_001002294.3(FMO3):c.237del (p.Asn80fs)Trimethylaminuria [RCV004783090]|not provided [RCV003693860]pathogenic|likely pathogenic1171103886171103886Human2name
404995941CV2992472single nucleotide variantNM_001002294.3(FMO3):c.987A>C (p.Thr329=)not provided [RCV003692708]likely benign1171114166171114166Humanname
402512227CV2994875single nucleotide variantNM_001002294.3(FMO3):c.411G>A (p.Ser137=)not provided [RCV003689530]likely benign1171107764171107764Humanname
405239344CV2997092single nucleotide variantNM_001002294.3(FMO3):c.567G>A (p.Val189=)not provided [RCV003718845]likely benign1171108161171108161Humanname
405249975CV2997154single nucleotide variantNM_001002294.3(FMO3):c.894C>T (p.Ser298=)not provided [RCV003721491]likely benign1171114073171114073Humanname
405206020CV2997934single nucleotide variantNM_001002294.3(FMO3):c.768C>T (p.Tyr256=)not provided [RCV003678745]likely benign1171110938171110938Humanname
404988572CV2998556single nucleotide variantNM_001002294.3(FMO3):c.951C>T (p.Thr317=)not provided [RCV003692070]likely benign1171114130171114130Humanname
402519519CV3003342single nucleotide variantNM_001002294.3(FMO3):c.537A>G (p.Pro179=)not provided [RCV003716211]likely benign1171108131171108131Humanname
405131481CV3021831single nucleotide variantNM_001002294.3(FMO3):c.700C>T (p.Leu234=)not provided [RCV003701736]likely benign1171110870171110870Humanname
405157667CV3024713duplicationNM_001002294.3(FMO3):c.102dup (p.Asn35fs)not provided [RCV003703742]pathogenic1171092759171092760Humanname
405123479CV3043173single nucleotide variantNM_001002294.3(FMO3):c.393G>A (p.Arg131=)not provided [RCV003724144]likely benign1171107746171107746Humanname
405090156CV3044745single nucleotide variantNM_001002294.3(FMO3):c.360A>C (p.Ala120=)not provided [RCV003717761]likely benign1171107713171107713Humanname
405237976CV3077828single nucleotide variantNM_001002294.3(FMO3):c.807T>C (p.Tyr269=)not provided [RCV003736270]likely benign1171110977171110977Humanname
405176620CV3119322single nucleotide variantNM_001002294.3(FMO3):c.930G>A (p.Ser310=)not provided [RCV003819607]likely benign1171114109171114109Humanname
8600148CV31355single nucleotide variantNM_001002294.3(FMO3):c.94G>A (p.Glu32Lys)Trimethylaminuria [RCV000017709]pathogenic|likely pathogenic1171092752171092752Human2name
8565557CV31356deletionNM_001002294.3(FMO3):c.192del (p.Glu65fs)Trimethylaminuria [RCV000017710]pathogenic1171103842171103842Human2name
405262246CV3194381single nucleotide variantNM_001002294.3(FMO3):c.50C>T (p.Ser17Phe)FMO3-related disorder [RCV003896411]uncertain significance1171092708171092708Humanname , trait , alternate_id
405728461CV3257335single nucleotide variantNM_001002294.3(FMO3):c.98A>G (p.Lys33Arg)Inborn genetic diseases [RCV004389693]likely benign1171092756171092756Human1name
407510075CV3432452single nucleotide variantNM_001002294.3(FMO3):c.41G>A (p.Gly14Asp)Inborn genetic diseases [RCV004625972]uncertain significance1171092699171092699Human1name
597668594CV3706920duplicationNM_001002294.3(FMO3):c.116dup (p.Leu40fs)Trimethylaminuria [RCV005004645]likely pathogenic1171092769171092770Human2name
598158260CV3973467single nucleotide variantNM_001002294.3(FMO3):c.35T>C (p.Val12Ala)Inborn genetic diseases [RCV005327962]uncertain significance1171092693171092693Human1name
15142942CV731871single nucleotide variantNM_001002294.3(FMO3):c.549T>C (p.Asn183=)not provided [RCV000899756]benign1171108143171108143Humanname
15116832CV731872single nucleotide variantNM_001002294.3(FMO3):c.906C>T (p.Asn302=)not provided [RCV000895270]likely benign1171114085171114085Humanname
15161678CV745846single nucleotide variantNM_001002294.3(FMO3):c.585G>A (p.Ser195=)not provided [RCV000925733]likely benign1171108179171108179Humanname
8624799CV79913single nucleotide variantNM_001002294.2(FMO3):c.67G>A (p.Glu23Lys)Malignant melanoma [RCV000059989]not provided1171092725171092725Humanname
28896124CV862790single nucleotide variantNM_001002294.3(FMO3):c.660G>A (p.Val220=)Trimethylaminuria [RCV001102087]|not provided [RCV003769072]likely benign|uncertain significance1171110830171110830Human2name
28896129CV862791single nucleotide variantNM_001002294.3(FMO3):c.684T>C (p.Gly228=)Trimethylaminuria [RCV001102088]|not provided [RCV005093485]likely benign|uncertain significance1171110854171110854Human2name
28880846CV862793single nucleotide variantNM_001002294.3(FMO3):c.729C>G (p.Leu243=)Trimethylaminuria [RCV001096674]uncertain significance1171110899171110899Human2name
150544253CV1313225single nucleotide variantNM_001002294.3(FMO3):c.122G>A (p.Trp41Ter)Trimethylaminuria [RCV001783303]pathogenic1171092780171092780Human1name
12907351CV227205single nucleotide variantNM_001002294.3(FMO3):c.172G>A (p.Val58Ile)Trimethylaminuria [RCV000490346]|not provided [RCV002515595]pathogenic|conflicting interpretations of pathogenicity|uncertain significance1171103824171103824Human2name
11549917CV249547single nucleotide variantNM_001002294.3(FMO3):c.1221T>C (p.Asn407=)Trimethylaminuria [RCV000341486]|not provided [RCV000890930]|not specified [RCV000251045]benign|uncertain significance1171116245171116245Human2name
11546700CV249548single nucleotide variantNM_001002294.3(FMO3):c.1479G>A (p.Ser493=)not provided [RCV003409377]|not specified [RCV000246803]likely benign1171117322171117322Humanname
11659919CV277401single nucleotide variantNM_001002294.3(FMO3):c.260T>A (p.Ile87Asn)Trimethylaminuria [RCV000362581]uncertain significance1171103912171103912Human2name
11579683CV278462single nucleotide variantNM_001002294.3(FMO3):c.245T>C (p.Met82Thr)Trimethylaminuria [RCV000309833]conflicting interpretations of pathogenicity|uncertain significance1171103897171103897Human2name
11577503CV278467single nucleotide variantNM_001002294.3(FMO3):c.1539T>C (p.His513=)Trimethylaminuria [RCV000261570]|not provided [RCV003688836]likely benign|uncertain significance1171117382171117382Human2name
401917040CV2829631single nucleotide variantNM_001002294.3(FMO3):c.151A>G (p.Arg51Gly)not provided [RCV003443675]likely pathogenic1171103803171103803Humanname
402483447CV2860681single nucleotide variantNM_001002294.3(FMO3):c.1569G>T (p.Leu523=)not provided [RCV003544186]likely benign1171117412171117412Humanname
405175563CV2864486single nucleotide variantNM_001002294.3(FMO3):c.1284A>G (p.Thr428=)not provided [RCV003542678]likely benign1171117127171117127Humanname
405200120CV2877120single nucleotide variantNM_001002294.3(FMO3):c.1050C>T (p.Ile350=)not provided [RCV003551304]benign1171114229171114229Humanname
405160126CV2898362single nucleotide variantNM_001002294.3(FMO3):c.209C>T (p.Pro70Leu)not provided [RCV003562309]pathogenic1171103861171103861Humanname
405167238CV2900929single nucleotide variantNM_001002294.3(FMO3):c.170C>G (p.Ser57Ter)not provided [RCV003562839]pathogenic1171103822171103822Humanname
405061534CV2926236deletionNM_001002294.3(FMO3):c.22_29del (p.Ile8fs)not provided [RCV003580450]pathogenic1171092679171092686Humanname
405227896CV2980583single nucleotide variantNM_001002294.3(FMO3):c.1506C>T (p.Val502=)not provided [RCV003711021]likely benign1171117349171117349Humanname
405248177CV2981090single nucleotide variantNM_001002294.3(FMO3):c.1131T>G (p.Ala377=)not provided [RCV003721031]likely benign1171114310171114310Humanname
405191986CV2984915single nucleotide variantNM_001002294.3(FMO3):c.1293T>C (p.Ile431=)not provided [RCV003706549]likely benign1171117136171117136Humanname
402496519CV2988717deletionNM_001002294.3(FMO3):c.559del (p.Val187fs)Trimethylaminuria [RCV005003686]|not provided [RCV003714313]pathogenic|likely pathogenic1171108153171108153Human2name
404993169CV2999659single nucleotide variantNM_001002294.3(FMO3):c.1425C>T (p.Gly475=)not provided [RCV003692480]likely benign1171117268171117268Humanname
402504326CV3007112single nucleotide variantNM_001002294.3(FMO3):c.1245A>G (p.Lys415=)not provided [RCV003688717]likely benign1171116269171116269Humanname
405083835CV3043602single nucleotide variantNM_001002294.3(FMO3):c.1557A>G (p.Ala519=)not provided [RCV003717333]likely benign1171117400171117400Humanname
405245689CV3051652single nucleotide variantNM_001002294.3(FMO3):c.1041C>T (p.Asn347=)not provided [RCV003720373]likely benign1171114220171114220Humanname
405246032CV3075686single nucleotide variantNM_001002294.3(FMO3):c.1269C>T (p.Ser423=)not provided [RCV003738622]likely benign1171117112171117112Humanname
405236036CV3079612deletionNM_001002294.3(FMO3):c.391del (p.Arg131fs)Trimethylaminuria [RCV005013168]|not provided [RCV003735917]pathogenic|likely pathogenic1171107742171107742Human2name
8600139CV31345single nucleotide variantNM_001002294.3(FMO3):c.198G>T (p.Met66Ile)Trimethylaminuria [RCV000017699]pathogenic|likely pathogenic1171103850171103850Human2name
8600140CV31346single nucleotide variantNM_001002294.3(FMO3):c.154G>A (p.Ala52Thr)Trimethylaminuria [RCV000017700]|not specified [RCV004700244]pathogenic|uncertain significance1171103806171103806Human2name
8600146CV31352single nucleotide variantNM_001002294.3(FMO3):c.182A>G (p.Asn61Ser)Trimethylaminuria [RCV000017706]pathogenic|likely pathogenic1171103834171103834Human2name
405234309CV3155492single nucleotide variantNM_001002294.3(FMO3):c.1551C>T (p.Leu517=)not provided [RCV003853470]likely benign1171117394171117394Humanname
407510073CV3432451single nucleotide variantNM_001002294.3(FMO3):c.118C>G (p.Leu40Val)Inborn genetic diseases [RCV004625971]uncertain significance1171092776171092776Human1name
408382526CV3525680single nucleotide variantNM_001002294.3(FMO3):c.112G>T (p.Gly38Trp)not specified [RCV004766590]uncertain significance1171092770171092770Humanname
597668760CV3676570single nucleotide variantNM_001002294.3(FMO3):c.138T>A (p.His46Gln)Inborn genetic diseases [RCV004979933]uncertain significance1171103790171103790Human1name
597668646CV3706931single nucleotide variantNM_001002294.3(FMO3):c.262C>T (p.Gln88Ter)Trimethylaminuria [RCV005004652]likely pathogenic1171103914171103914Human2name
597683851CV3707012deletionNM_001002294.3(FMO3):c.680del (p.Asn227fs)Trimethylaminuria [RCV005006681]likely pathogenic1171110849171110849Human2name
597869013CV3803424single nucleotide variantNM_001002294.3(FMO3):c.1311C>T (p.Leu437=)not provided [RCV005148021]likely benign1171117154171117154Humanname
597907580CV3804210single nucleotide variantNM_001002294.3(FMO3):c.1104G>A (p.Val368=)not provided [RCV005153756]likely benign1171114283171114283Humanname
597974657CV3831769single nucleotide variantNM_001002294.3(FMO3):c.1275C>T (p.Thr425=)not provided [RCV005168708]likely benign1171117118171117118Humanname
597938203CV3852771single nucleotide variantNM_001002294.3(FMO3):c.1575C>T (p.Ile525=)not provided [RCV005187171]likely benign1171117418171117418Humanname
15182895CV718385single nucleotide variantNM_001002294.3(FMO3):c.1530C>T (p.Phe510=)Trimethylaminuria [RCV001100185]|not provided [RCV000886101]benign|uncertain significance1171117373171117373Human2name
8629080CV84224single nucleotide variantNM_001002294.2(FMO3):c.1584C>T (p.Phe528=)Malignant melanoma [RCV000064306]not provided1171117427171117427Humanname
150530019CV1311395single nucleotide variantNM_001002294.3(FMO3):c.667C>T (p.Arg223Trp)Trimethylaminuria [RCV001775501]likely pathogenic1171110837171110837Human2name
150544252CV1313224single nucleotide variantNM_001002294.3(FMO3):c.622G>T (p.Glu208Ter)Trimethylaminuria [RCV001783302]|not provided [RCV003660902]pathogenic1171108216171108216Human2name
156418378CV1911027single nucleotide variantNM_001002294.3(FMO3):c.594T>A (p.Asp198Glu)not provided [RCV002611564]likely benign1171108188171108188Humanname
156116154CV2221643single nucleotide variantNM_001002294.3(FMO3):c.874A>G (p.Ile292Val)Inborn genetic diseases [RCV002761996]uncertain significance1171114053171114053Human1name
156279557CV2252173single nucleotide variantNM_001002294.3(FMO3):c.510C>G (p.Cys170Trp)Inborn genetic diseases [RCV002792994]uncertain significance1171108104171108104Human1name
156030252CV2379581single nucleotide variantNM_001002294.3(FMO3):c.971G>C (p.Cys324Ser)Inborn genetic diseases [RCV002703606]uncertain significance1171114150171114150Human1name
329393589CV2471984single nucleotide variantNM_001002294.3(FMO3):c.926C>T (p.Thr309Ile)Inborn genetic diseases [RCV003218361]uncertain significance1171114105171114105Human1name
11550679CV249537single nucleotide variantNM_001002294.3(FMO3):c.394G>C (p.Asp132His)Trimethylaminuria [RCV001100091]|not provided [RCV000958513]|not specified [RCV000252068]benign1171107747171107747Human2name
11546352CV249542single nucleotide variantNM_001002294.3(FMO3):c.830T>C (p.Val277Ala)Trimethylaminuria [RCV000388305]|not provided [RCV000973291]|not specified [RCV000246347]benign|likely benign1171114009171114009Human2name
329952124CV2668849single nucleotide variantNM_001002294.3(FMO3):c.584C>T (p.Ser195Leu)Trimethylaminuria [RCV003230932]likely pathogenic1171108178171108178Human2name
401761734CV2726884single nucleotide variantNM_001002294.3(FMO3):c.673T>G (p.Trp225Gly)Inborn genetic diseases [RCV003299954]uncertain significance1171110843171110843Human1name
401797423CV2742228single nucleotide variantNM_001002294.3(FMO3):c.919A>C (p.Thr307Pro)not specified [RCV003324408]uncertain significance1171114098171114098Humanname
11664484CV277402single nucleotide variantNM_001002294.3(FMO3):c.994A>G (p.Ser332Gly)Trimethylaminuria [RCV000406247]uncertain significance1171114173171114173Human2name
11580935CV277598single nucleotide variantNM_001002294.3(FMO3):c.889G>T (p.Val297Leu)Trimethylaminuria [RCV000348917]uncertain significance1171114068171114068Human2name
11646327CV278458single nucleotide variantNM_001002294.3(FMO3):c.430A>G (p.Met144Val)Trimethylaminuria [RCV000270329]uncertain significance1171107783171107783Human2name
11580894CV278464single nucleotide variantNM_001002294.3(FMO3):c.979T>G (p.Phe327Val)Trimethylaminuria [RCV000347909]|not provided [RCV004691156]uncertain significance1171114158171114158Human2name
11577578CV278486single nucleotide variantNM_001002294.3(FMO3):c.706G>A (p.Val236Ile)FMO3-related disorder [RCV003930209]|Trimethylaminuria [RCV000263249]|not provided [RCV003727646]benign|likely benign|uncertain significance1171110876171110876Human2name , trait , alternate_id
402482857CV2860652single nucleotide variantNM_001002294.3(FMO3):c.625C>T (p.Gln209Ter)not provided [RCV003544172]pathogenic1171108219171108219Humanname
405018747CV2866092deletionNM_001002294.3(FMO3):c.1210del (p.Asp404fs)not provided [RCV003577403]pathogenic1171116234171116234Humanname
405077442CV2869649duplicationNM_001002294.3(FMO3):c.1118dup (p.Ser374fs)Trimethylaminuria [RCV005003660]|not provided [RCV003548905]pathogenic|likely pathogenic1171114296171114297Human2name
405219465CV2870127single nucleotide variantNM_001002294.3(FMO3):c.712C>T (p.Arg238Ter)Trimethylaminuria [RCV005003662]|not provided [RCV003553660]pathogenic|likely pathogenic1171110882171110882Human2name
405228958CV2894508single nucleotide variantNM_001002294.3(FMO3):c.775C>T (p.Gln259Ter)not provided [RCV003555044]pathogenic1171110945171110945Humanname
405160140CV2898363single nucleotide variantNM_001002294.3(FMO3):c.668G>A (p.Arg223Gln)not provided [RCV003562310]likely pathogenic1171110838171110838Humanname
405160159CV2898364single nucleotide variantNM_001002294.3(FMO3):c.778A>G (p.Met260Val)not provided [RCV003562311]pathogenic1171110948171110948Humanname
405170227CV2911920single nucleotide variantNM_001002294.3(FMO3):c.584C>A (p.Ser195Ter)not provided [RCV003563060]pathogenic1171108178171108178Humanname
405249336CV2983695duplicationNM_001002294.3(FMO3):c.1237dup (p.Met413fs)not provided [RCV003686168]pathogenic1171116257171116258Humanname
405003486CV3016352single nucleotide variantNM_001002294.3(FMO3):c.692G>A (p.Trp231Ter)not provided [RCV003693396]pathogenic1171110862171110862Humanname
8600137CV31343single nucleotide variantNM_001002294.3(FMO3):c.913G>T (p.Glu305Ter)Trimethylaminuria [RCV000017697]|not provided [RCV001036315]pathogenic1171114092171114092Human2name
8600138CV31344single nucleotide variantNM_001002294.3(FMO3):c.769G>A (p.Val257Met)Trimethylaminuria [RCV000017698]|not provided [RCV003669101]|not specified [RCV000253910]pathogenic|benign|likely benign|conflicting interpretations of pathogenicity1171110939171110939Human2name
8600141CV31347single nucleotide variantNM_001002294.3(FMO3):c.458C>T (p.Pro153Leu)FMO3-related disorder [RCV004755741]|Trimethylaminuria [RCV000017701]|not provided [RCV002223760]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity1171107811171107811Human2name , trait , alternate_id
8600143CV31349single nucleotide variantNM_001002294.3(FMO3):c.442G>T (p.Gly148Ter)FMO3 activity, decreased [RCV000017703]|not provided [RCV003556036]pathogenic1171107795171107795Humanname , trait
8600145CV31351single nucleotide variantNM_001002294.3(FMO3):c.940G>T (p.Glu314Ter)Trimethylaminuria [RCV000017705]pathogenic1171114119171114119Human2name
8604019CV31357single nucleotide variantNM_001002294.3(FMO3):c.923A>G (p.Glu308Gly)Trimethylaminuria [RCV000290538]|not provided [RCV001642531]|not specified [RCV000254132]pathogenic|benign|likely benign1171114102171114102Human2name
405065648CV3144831single nucleotide variantNM_001002294.3(FMO3):c.406G>T (p.Glu136Ter)not provided [RCV003850608]pathogenic1171107759171107759Humanname
405673852CV3222441single nucleotide variantNM_001002294.3(FMO3):c.601A>C (p.Thr201Pro)Trimethylaminuria [RCV004515808]likely benign1171108195171108195Human2name
405728437CV3257332single nucleotide variantNM_001002294.3(FMO3):c.305A>G (p.Lys102Arg)Inborn genetic diseases [RCV004389690]uncertain significance1171103957171103957Human1name
405728455CV3257334single nucleotide variantNM_001002294.3(FMO3):c.560T>G (p.Val187Gly)Inborn genetic diseases [RCV004389692]|Trimethylaminuria [RCV005003755]likely pathogenic|uncertain significance1171108154171108154Human3name
407427405CV3410655single nucleotide variantNM_001002294.3(FMO3):c.571G>T (p.Gly191Cys)Trimethylaminuria [RCV004586302]likely pathogenic1171108165171108165Human2name
407427408CV3410657single nucleotide variantNM_001002294.3(FMO3):c.596T>C (p.Ile199Thr)not specified [RCV004586304]uncertain significance1171108190171108190Humanname
407510078CV3432453single nucleotide variantNM_001002294.3(FMO3):c.432G>T (p.Met144Ile)Inborn genetic diseases [RCV004625973]uncertain significance1171107785171107785Human1name
407574195CV3498568single nucleotide variantNM_001002294.3(FMO3):c.557G>A (p.Arg186His)not specified [RCV004703044]uncertain significance1171108151171108151Humanname
408382169CV3525601single nucleotide variantNM_001002294.3(FMO3):c.419T>C (p.Phe140Ser)Trimethylaminuria [RCV004766510]likely pathogenic1171107772171107772Human2name
12849959CV364540single nucleotide variantNM_001002294.3(FMO3):c.859G>T (p.Glu287Ter)Trimethylaminuria [RCV005004152]|not provided [RCV000439141]pathogenic|likely pathogenic1171114038171114038Human2name
597668753CV3676569single nucleotide variantNM_001002294.3(FMO3):c.551G>T (p.Gly184Val)Inborn genetic diseases [RCV004979932]uncertain significance1171108145171108145Human1name
597668662CV3706942single nucleotide variantNM_001002294.3(FMO3):c.375G>A (p.Trp125Ter)Trimethylaminuria [RCV005004654]likely pathogenic1171107728171107728Human2name
597668858CV3707021single nucleotide variantNM_001002294.3(FMO3):c.768C>A (p.Tyr256Ter)Trimethylaminuria [RCV005004676]likely pathogenic1171110938171110938Human2name
597683955CV3707027single nucleotide variantNM_001002294.3(FMO3):c.841G>T (p.Glu281Ter)Trimethylaminuria [RCV005006691]likely pathogenic1171114020171114020Human2name
597871047CV3768269single nucleotide variantNM_001002294.3(FMO3):c.762G>A (p.Trp254Ter)not provided [RCV005122648]pathogenic1171110932171110932Humanname
8601183CV38476single nucleotide variantNM_001002294.3(FMO3):c.472G>A (p.Glu158Lys)See cases [RCV002251938]|Trimethylaminuria [RCV000361492]|not provided [RCV001668146]|not specified [RCV000248637]pathogenic|benign1171107825171107825Human5name
598219375CV3895649single nucleotide variantNM_001002294.3(FMO3):c.989G>A (p.Gly330Glu)Trimethylaminuria [RCV005360490]likely pathogenic1171114168171114168Human2name
598214913CV3973465single nucleotide variantNM_001002294.3(FMO3):c.797A>G (p.His266Arg)Inborn genetic diseases [RCV005339602]uncertain significance1171110967171110967Human1name
598214917CV3973466single nucleotide variantNM_001002294.3(FMO3):c.634A>C (p.Ile212Leu)Inborn genetic diseases [RCV005339603]uncertain significance1171110804171110804Human1name
13797940CV553150single nucleotide variantNM_001002294.3(FMO3):c.370C>T (p.Gln124Ter)Trimethylaminuria [RCV000681472]|not provided [RCV001381492]pathogenic|likely pathogenic1171107723171107723Human2name
13797942CV553151single nucleotide variantNM_001002294.3(FMO3):c.442G>A (p.Gly148Arg)Trimethylaminuria [RCV000681473]likely pathogenic1171107795171107795Human2name
14689299CV619969single nucleotide variantNM_001002294.3(FMO3):c.929C>T (p.Ser310Leu)See cases [RCV002252234]|Trimethylaminuria [RCV000778196]|not provided [RCV003558577]pathogenic|likely pathogenic|uncertain significance1171114108171114108Human2name
14689300CV619970duplicationNM_001002294.3(FMO3):c.1123dup (p.Leu375fs)Trimethylaminuria [RCV000778197]uncertain significance1171114299171114300Human1name
28891188CV862785single nucleotide variantNM_001002294.3(FMO3):c.329T>C (p.Val110Ala)Trimethylaminuria [RCV001100089]|not provided [RCV003727852]likely benign|uncertain significance1171107682171107682Human2name
28891191CV862786single nucleotide variantNM_001002294.3(FMO3):c.341A>G (p.Asn114Ser)FMO3-related disorder [RCV003963044]|Trimethylaminuria [RCV001100090]|not provided [RCV002558009]|not specified [RCV003155360]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance1171107694171107694Human2name , trait , alternate_id
28891196CV862787single nucleotide variantNM_001002294.3(FMO3):c.428T>A (p.Val143Glu)Trimethylaminuria [RCV001100092]uncertain significance1171107781171107781Human2name
28896113CV862788single nucleotide variantNM_001002294.3(FMO3):c.539G>T (p.Gly180Val)Trimethylaminuria [RCV001102084]|not provided [RCV003669185]benign1171108133171108133Human2name
28896117CV862789single nucleotide variantNM_001002294.3(FMO3):c.613C>T (p.Arg205Cys)Trimethylaminuria [RCV001102085]|not provided [RCV003574822]|not specified [RCV003987784]pathogenic|uncertain significance1171108207171108207Human2name
28880843CV862792single nucleotide variantNM_001002294.3(FMO3):c.713G>A (p.Arg238Gln)Trimethylaminuria [RCV001096673]|not provided [RCV003558661]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance1171110883171110883Human2name
28880852CV862794single nucleotide variantNM_001002294.3(FMO3):c.743C>T (p.Pro248Leu)Trimethylaminuria [RCV001096675]uncertain significance1171110913171110913Human2name
153000370CV1683001single nucleotide variantNM_001002294.3(FMO3):c.1282A>T (p.Thr428Ser)See cases [RCV002253011]uncertain significance1171117125171117125Humanname
329400194CV2440709single nucleotide variantNM_001002294.3(FMO3):c.1373C>T (p.Ala458Val)Inborn genetic diseases [RCV003197181]uncertain significance1171117216171117216Human1name
329355886CV2442380single nucleotide variantNM_001002294.3(FMO3):c.1213A>G (p.Met405Val)Inborn genetic diseases [RCV003203051]uncertain significance1171116237171116237Human1name
329397106CV2459925single nucleotide variantNM_001002294.3(FMO3):c.1202C>A (p.Ser401Tyr)Inborn genetic diseases [RCV003195345]uncertain significance1171116226171116226Human1name
11550130CV249549single nucleotide variantNM_001002294.3(FMO3):c.1595C>T (p.Thr532Ile)Inborn genetic diseases [RCV005338119]|not specified [RCV000251333]likely benign1171117438171117438Human1name
401752515CV2707035single nucleotide variantNM_001002294.3(FMO3):c.1003T>C (p.Tyr335His)Inborn genetic diseases [RCV003277385]uncertain significance1171114182171114182Human1name
11579593CV277403single nucleotide variantNM_001002294.3(FMO3):c.1204A>G (p.Met402Val)Trimethylaminuria [RCV000307703]|not provided [RCV000911384]likely benign|uncertain significance1171116228171116228Human2name
11581175CV277600single nucleotide variantNM_001002294.3(FMO3):c.1505T>G (p.Val502Gly)FMO3-related disorder [RCV003920185]|Trimethylaminuria [RCV000358753]|not provided [RCV000959526]likely benign|uncertain significance1171117348171117348Human2name , trait , alternate_id
401899239CV2783767single nucleotide variantNM_001002294.3(FMO3):c.1513C>T (p.Leu505Phe)Inborn genetic diseases [RCV003377400]uncertain significance1171117356171117356Human1name
11582030CV278466single nucleotide variantNM_001002294.3(FMO3):c.1288T>C (p.Tyr430His)Inborn genetic diseases [RCV005338135]|Trimethylaminuria [RCV000394966]uncertain significance1171117131171117131Human3name
401918863CV2794684single nucleotide variantNM_001002294.3(FMO3):c.1408C>T (p.Gln470Ter)Trimethylaminuria [RCV003388358]pathogenic1171117251171117251Human2name
405174721CV2863465single nucleotide variantNM_001002294.3(FMO3):c.1005C>A (p.Tyr335Ter)FMO3-related disorder [RCV004756517]|not provided [RCV003542634]pathogenic|likely pathogenic1171114184171114184Human1name , trait , alternate_id
405160194CV2898366single nucleotide variantNM_001002294.3(FMO3):c.1262G>T (p.Gly421Val)Trimethylaminuria [RCV005003666]|not provided [RCV003562313]likely pathogenic1171117105171117105Human2name
405160206CV2898367single nucleotide variantNM_001002294.3(FMO3):c.1498C>T (p.Arg500Ter)Trimethylaminuria [RCV005003667]|not provided [RCV003562314]pathogenic1171117341171117341Human2name
405063736CV2927146single nucleotide variantNM_001002294.3(FMO3):c.1231G>T (p.Glu411Ter)not provided [RCV003580608]pathogenic1171116255171116255Humanname
402486486CV2931810single nucleotide variantNM_001002294.3(FMO3):c.1257G>A (p.Trp419Ter)not provided [RCV003572575]pathogenic1171117100171117100Humanname
405012780CV2933978single nucleotide variantNM_001002294.3(FMO3):c.1478C>T (p.Ser493Leu)not provided [RCV003576880]likely benign1171117321171117321Humanname
8600142CV31348single nucleotide variantNM_001002294.3(FMO3):c.1474C>T (p.Arg492Trp)Trimethylaminuria [RCV000017702]|not provided [RCV003574701]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity1171117317171117317Human2name
8600144CV31350single nucleotide variantNM_001002294.3(FMO3):c.1160G>T (p.Arg387Leu)FMO3-related disorder [RCV003398530]|Trimethylaminuria [RCV000017704]|not specified [RCV005237387]pathogenic|likely pathogenic|uncertain significance1171114339171114339Human2name , trait , alternate_id
8600147CV31353single nucleotide variantNM_001002294.3(FMO3):c.1302G>A (p.Met434Ile)Trimethylaminuria [RCV000017707]|not provided [RCV003556037]pathogenic|likely pathogenic|uncertain significance1171117145171117145Human2name
405728432CV3257331single nucleotide variantNM_001002294.3(FMO3):c.1060A>G (p.Lys354Glu)Inborn genetic diseases [RCV004389689]uncertain significance1171114239171114239Human1name
8601182CV34316single nucleotide variantNM_001002294.3(FMO3):c.1079T>C (p.Leu360Pro)Trimethylaminuria [RCV000020652]|not provided [RCV002513145]pathogenic|likely benign|other|not provided1171114258171114258Human2name
407510070CV3432450single nucleotide variantNM_001002294.3(FMO3):c.1561C>T (p.Pro521Ser)Inborn genetic diseases [RCV004625970]uncertain significance1171117404171117404Human1name
597668747CV3676567single nucleotide variantNM_001002294.3(FMO3):c.1192A>G (p.Thr398Ala)Inborn genetic diseases [RCV004979931]uncertain significance1171116216171116216Human1name
597668970CV3707042single nucleotide variantNM_001002294.3(FMO3):c.1159C>G (p.Arg387Gly)Trimethylaminuria [RCV005004690]likely pathogenic1171114338171114338Human2name
597684031CV3707043single nucleotide variantNM_001002294.3(FMO3):c.1159C>T (p.Arg387Cys)Trimethylaminuria [RCV005006699]likely pathogenic1171114338171114338Human2name
597668996CV3707050single nucleotide variantNM_001002294.3(FMO3):c.1164G>A (p.Trp388Ter)Trimethylaminuria [RCV005004693]likely pathogenic1171114343171114343Human2name
597684121CV3707063single nucleotide variantNM_001002294.3(FMO3):c.1256G>A (p.Trp419Ter)Trimethylaminuria [RCV005006708]likely pathogenic1171116280171116280Human2name
597684225CV3707075single nucleotide variantNM_001002294.3(FMO3):c.1306G>T (p.Glu436Ter)Trimethylaminuria [RCV005006718]likely pathogenic1171117149171117149Human2name
597949709CV3772202single nucleotide variantNM_001002294.3(FMO3):c.1045G>T (p.Glu349Ter)not provided [RCV005120521]pathogenic1171114224171114224Humanname
598122561CV3884492single nucleotide variantNM_001002294.3(FMO3):c.1448G>C (p.Arg483Thr)not specified [RCV005237184]uncertain significance1171117291171117291Humanname
598214894CV3973461single nucleotide variantNM_001002294.3(FMO3):c.1319T>C (p.Phe440Ser)Inborn genetic diseases [RCV005339598]uncertain significance1171117162171117162Human1name
598214905CV3973463single nucleotide variantNM_001002294.3(FMO3):c.1274C>T (p.Thr425Ile)Inborn genetic diseases [RCV005339600]uncertain significance1171117117171117117Human1name
598214909CV3973464single nucleotide variantNM_001002294.3(FMO3):c.1546A>G (p.Lys516Glu)Inborn genetic diseases [RCV005339601]uncertain significance1171117389171117389Human1name
598177039CV4008231single nucleotide variantNM_001002294.3(FMO3):c.1424G>A (p.Gly475Asp)Trimethylaminuria [RCV005393747]uncertain significance1171117267171117267Human2name
12906383CV414743single nucleotide variantNM_001002294.3(FMO3):c.1160G>A (p.Arg387His)Trimethylaminuria [RCV005010405]|not provided [RCV000489148]likely pathogenic1171114339171114339Human2name
28886269CV862795single nucleotide variantNM_001002294.3(FMO3):c.1084G>C (p.Glu362Gln)Trimethylaminuria [RCV001098408]|not provided [RCV002557993]benign|conflicting interpretations of pathogenicity|uncertain significance1171114263171114263Human2name
28886274CV862796single nucleotide variantNM_001002294.3(FMO3):c.1222G>T (p.Asp408Tyr)Trimethylaminuria [RCV001098409]|not provided [RCV004697044]uncertain significance1171116246171116246Human2name
28891422CV862797single nucleotide variantNM_001002294.3(FMO3):c.1250G>A (p.Arg417His)Trimethylaminuria [RCV001100181]|not provided [RCV004691364]uncertain significance1171116274171116274Human2name
28891424CV862798single nucleotide variantNM_001002294.3(FMO3):c.1322T>C (p.Ile441Thr)Trimethylaminuria [RCV001100182]|not provided [RCV003558666]pathogenic|uncertain significance1171117165171117165Human2name
28891429CV862799single nucleotide variantNM_001002294.3(FMO3):c.1462A>G (p.Thr488Ala)Trimethylaminuria [RCV001100183]uncertain significance1171117305171117305Human2name
28891435CV862800single nucleotide variantNM_001002294.3(FMO3):c.1507G>A (p.Gly503Arg)Trimethylaminuria [RCV001100184]uncertain significance1171117350171117350Human2name
40886642CV973152single nucleotide variantNM_001002294.3(FMO3):c.1499G>A (p.Arg500Gln)Inborn genetic diseases [RCV001265831]likely pathogenic1171117342171117342Human1name
405016223CV2855723duplicationNM_001002294.3(FMO3):c.530_531dup (p.Glu178fs)not provided [RCV003577153]pathogenic1171108122171108123Humanname
402516108CV2865663deletionNM_001002294.3(FMO3):c.674_690del (p.Trp225fs)not provided [RCV003547414]pathogenic1171110842171110858Humanname
405208072CV2870442deletionNM_001002294.3(FMO3):c.358_368del (p.Ala120fs)not provided [RCV003552201]pathogenic1171107711171107721Humanname
404988179CV2998414deletionNM_001002294.3(FMO3):c.726_729del (p.Phe242fs)Trimethylaminuria [RCV005003687]|not provided [RCV003691999]pathogenic|likely pathogenic1171110896171110899Human2name
402518928CV3000120deletionNM_001002294.3(FMO3):c.488_489del (p.Leu163fs)not provided [RCV003716282]pathogenic1171108082171108083Humanname
402518304CV3003430insertionNM_001002294.3(FMO3):c.174_175insA (p.Phe59fs)not provided [RCV003716239]pathogenic1171103826171103827Humanname
405115082CV3019319duplicationNM_001002294.3(FMO3):c.839_842dup (p.Pro282fs)not provided [RCV003700151]pathogenic1171114015171114016Humanname
408366356CV3507599deletionNM_001002294.3(FMO3):c.877_878del (p.Leu293fs)FMO3-related disorder [RCV004756586]likely pathogenic1171114055171114056Humanname , trait , alternate_id
597668700CV3706954deletionNM_001002294.3(FMO3):c.458_459del (p.Pro153fs)Trimethylaminuria [RCV005004658]pathogenic1171107810171107811Human2name
597939705CV3775379deletionNM_001002294.3(FMO3):c.579_580del (p.Asn194fs)not provided [RCV005118205]pathogenic1171108173171108174Humanname
126728439CV1015587deletionNM_001002294.3(FMO3):c.1139_1140del (p.Pro380fs)Trimethylaminuria [RCV005003727]|not provided [RCV003820116]pathogenic|likely pathogenic1171114317171114318Human2name
597684092CV3707058deletionNM_001002294.3(FMO3):c.1246_1247del (p.Lys416fs)Trimethylaminuria [RCV005006705]likely pathogenic1171116267171116268Human2name
597683691CV3706932indelNM_001002294.3(FMO3):c.327_329delinsAC (p.Phe109fs)Trimethylaminuria [RCV005006666]likely pathogenic1171107680171107682Humanname
597683986CV3707041indelNM_001002294.3(FMO3):c.1158_1159delinsAT (p.Arg387Cys)Trimethylaminuria [RCV005006695]likely pathogenic1171114337171114338Humanname
126734480CV1019226microsatelliteNM_001002294.3(FMO3):c.993_994del (p.Tyr331_Ser332delinsTer)Trimethylaminuria [RCV005013010]|not provided [RCV003554254]pathogenic|likely pathogenic1171114170171114171Humanname
12907457CV227206microsatelliteNM_001002294.3(FMO3):c.591_592del (p.Cys197_Asp198delinsTer)Trimethylaminuria [RCV000490504]|not provided [RCV002515594]pathogenic1171108183171108184Humanname
402494737CV2874450insertionNM_001002294.3(FMO3):c.768_769insAGATGACTG (p.Val257delinsArgTer)not provided [RCV003545278]pathogenic1171110938171110939Humanname
597668782CV3707000indelNM_001002294.3(FMO3):c.591_594delinsAA (p.Cys197_Asp198delinsTer)Trimethylaminuria [RCV005004667]pathogenic1171108185171108188Humanname
597683580CV3706924indelNM_001002294.3(FMO3):c.155_191delinsTCCATCACAGGACCATGC (p.Ala52fs)Trimethylaminuria [RCV005006656]likely pathogenic1171103807171103843Humanname