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


233 records found for search term Nelf
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156058299CV2396454single nucleotide variantNM_005663.5(NELFA):c.-8C>Tnot specified [RCV004242165]uncertain significance420089672008967Humanname
598254420CV3990738single nucleotide variantNM_005663.5(NELFA):c.-6C>Tnot specified [RCV005385500]uncertain significance420089652008965Humanname
329395210CV2458210single nucleotide variantNM_198976.4(NELFCD):c.-3A>Gnot specified [RCV004265873]uncertain significance205898130758981307Humanname
401780807CV2723654single nucleotide variantNM_198976.4(NELFCD):c.-9G>Cnot specified [RCV004325832]uncertain significance205898130158981301Humanname
405813259CV3349914single nucleotide variantNM_198976.4(NELFCD):c.-23C>Tnot specified [RCV004483767]uncertain significance205898128758981287Humanname
405813286CV3349928single nucleotide variantNM_198976.4(NELFCD):c.-20G>Anot specified [RCV004483781]uncertain significance205898129058981290Humanname
597639575CV3556007single nucleotide variantNM_198976.4(NELFCD):c.-11C>Tnot specified [RCV004831858]uncertain significance205898129958981299Humanname
15168359CV730418single nucleotide variantNM_002904.6(NELFE):c.76-6T>Anot provided [RCV000883047]likely benign63195701631957016Humanname
15138918CV744147single nucleotide variantNM_005663.5(NELFA):c.383-6C>Tnot provided [RCV000899063]likely benign419898751989875Humanname
15159197CV759306single nucleotide variantNM_005663.5(NELFA):c.211-4G>Cnot provided [RCV000925231]likely benign419917191991719Humanname
15157347CV730278duplicationNM_005663.5(NELFA):c.925-10dupNELFA-related disorder [RCV003930526]|not provided [RCV000880803]benign|likely benign419849281984929Humanname , trait , alternate_id
15108199CV730279single nucleotide variantNM_005663.5(NELFA):c.924+10G>ANELFA-related disorder [RCV003950425]|not provided [RCV000893622]likely benign419857661985766Humanname , trait , alternate_id
15115148CV774936single nucleotide variantNM_005663.5(NELFA):c.383-10T>Gnot provided [RCV000939436]likely benign419898791989879Humanname
15140165CV779960single nucleotide variantNM_198976.4(NELFCD):c.1344+10C>Tnot provided [RCV000966092]benign205899312258993122Humanname
152107394CV1661889microsatelliteNM_001130969.3(NSMF):c.1132-22_1132-15delHypogonadotropic hypogonadism 9 with or without anosmia [RCV002486893]|not provided [RCV002116100]benign|likely benign9137452601137452608Humanalternate_id
8569995CV17563single nucleotide variantNM_001130969.3(NSMF):c.1438A>G (p.Thr480Ala)Hypogonadotropic hypogonadism 9 with or without anosmia [RCV000030872]risk factor9137449656137449656Human1alternate_id
8569996CV17564deletionNM_001130969.3(NSMF):c.1132-23_1132-15delHypogonadotropic hypogonadism 9 with or without anosmia [RCV000030873]risk factor9137452601137452609Human1alternate_id
243055384CV2408384single nucleotide variantNM_001130969.3(NSMF):c.194C>A (p.Pro65His)Hypogonadotropic hypogonadism 9 with or without anosmia [RCV003131833]uncertain significance9137457841137457841Human1alternate_id
405867340CV3394311single nucleotide variantNM_001130969.3(NSMF):c.919G>C (p.Asp307His)Hypogonadotropic hypogonadism 9 with or without anosmia [RCV004566428]uncertain significance9137453734137453734Human1alternate_id
597714540CV3726276single nucleotide variantNM_001130969.3(NSMF):c.383G>A (p.Arg128Gln)Hypogonadotropic hypogonadism 9 with or without anosmia [RCV005049030]uncertain significance9137457652137457652Human1alternate_id
598227643CV3896011single nucleotide variantNM_001130969.3(NSMF):c.779+182A>GHypogonadotropic hypogonadism 9 with or without anosmia [RCV005362270]likely benign9137455057137455057Human1alternate_id
598208678CV4007751single nucleotide variantNM_001130969.3(NSMF):c.586C>G (p.Arg196Gly)Hypogonadotropic hypogonadism 9 with or without anosmia [RCV005400065]uncertain significance9137457449137457449Human1alternate_id
12906556CV415184single nucleotide variantNM_001130969.3(NSMF):c.241G>A (p.Gly81Ser)Hypogonadotropic hypogonadism 9 with or without anosmia [RCV005398709]|NSMF-related disorder [RCV003419822]|not provided [RCV000489361]|not specified [RCV004649175]uncertain significance9137457794137457794Human1alternate_id
15112364CV626009single nucleotide variantNM_001130969.3(NSMF):c.1261C>T (p.Leu421Phe)Hypogonadotropic hypogonadism 9 with or without anosmia [RCV000859992]uncertain significance9137450231137450231Human1alternate_id
38463912CV919214single nucleotide variantNM_001130969.3(NSMF):c.586C>T (p.Arg196Cys)Hypogonadotropic hypogonadism 9 with or without anosmia [RCV001199027]uncertain significance9137457449137457449Human1alternate_id
38597888CV964324single nucleotide variantNM_001130969.3(NSMF):c.1435A>G (p.Arg479Gly)Hypogonadotropic hypogonadism 9 with or without anosmia [RCV001253245]uncertain significance9137449659137449659Human1alternate_id
126730318CV985997single nucleotide variantNM_001130969.3(NSMF):c.298C>T (p.Arg100Ter)Hypogonadotropic hypogonadism 9 with or without anosmia [RCV001294123]pathogenic9137457737137457737Humanalternate_id
15099020CV720913single nucleotide variantNM_005663.5(NELFA):c.528G>A (p.Ala176=)NELFA-related disorder [RCV003968134]|not provided [RCV000891864]likely benign419897241989724Humanname , trait , alternate_id
15182954CV734597single nucleotide variantNM_005663.5(NELFA):c.1012A>G (p.Ile338Val)NELFA-related disorder [RCV003902829]|not provided [RCV000907948]likely benign419848321984832Humanname , trait , alternate_id
15102116CV764433single nucleotide variantNM_005663.5(NELFA):c.24C>T (p.Asp8=)not provided [RCV000936929]likely benign420089362008936Humanname
156293305CV2233532single nucleotide variantNM_005663.4(NELFA):c.7G>C (p.Gly3Arg)not specified [RCV004100011]uncertain significance420089862008986Humanname
401739954CV2709748single nucleotide variantNM_005663.5(NELFA):c.1A>G (p.Met1Val)not specified [RCV004320737]uncertain significance420089592008959Humanname
15111540CV748893single nucleotide variantNM_005663.5(NELFA):c.75G>A (p.Ala25=)not provided [RCV000916748]likely benign420088852008885Humanname
597639011CV3565524single nucleotide variantNM_002904.6(NELFE):c.17C>T (p.Pro6Leu)not specified [RCV004831867]uncertain significance63195843031958430Humanname
598254462CV3990749single nucleotide variantNM_198976.4(NELFCD):c.6C>G (p.Asp2Glu)not specified [RCV005385505]uncertain significance205898131558981315Humanname
15114640CV748892single nucleotide variantNM_005663.5(NELFA):c.279C>T (p.Val93=)not provided [RCV000917314]likely benign419916471991647Humanname
15182277CV764432single nucleotide variantNM_005663.5(NELFA):c.282C>T (p.Ala94=)not provided [RCV000930324]benign419916441991644Humanname
15138641CV781931single nucleotide variantNM_005663.5(NELFA):c.150G>C (p.Ser50=)not provided [RCV000982505]likely benign420088102008810Humanname
155906427CV2303312single nucleotide variantNM_198976.4(NELFCD):c.10G>A (p.Asp4Asn)not specified [RCV004159059]uncertain significance205898131958981319Humanname
401927850CV2822351single nucleotide variantNM_005663.5(NELFA):c.576C>T (p.Ser192=)not provided [RCV003439213]likely benign419879761987976Humanname
15100033CV720911single nucleotide variantNM_005663.5(NELFA):c.645A>G (p.Lys215=)not provided [RCV000892039]benign419863921986392Humanname
15108203CV720912single nucleotide variantNM_005663.5(NELFA):c.588C>A (p.Pro196=)not provided [RCV000893623]likely benign419879641987964Humanname
15196562CV720914single nucleotide variantNM_005663.5(NELFA):c.441C>T (p.Asn147=)not provided [RCV000889808]likely benign419898111989811Humanname
15100822CV720915single nucleotide variantNM_005663.5(NELFA):c.309A>C (p.Thr103=)not provided [RCV000892172]likely benign419916171991617Humanname
15195701CV721960single nucleotide variantNM_002904.6(NELFE):c.660G>A (p.Arg220=)not provided [RCV000889577]likely benign63195463731954637Humanname
15159732CV734598single nucleotide variantNM_005663.5(NELFA):c.966G>A (p.Thr322=)not provided [RCV000902999]likely benign419848781984878Humanname
15190718CV734599single nucleotide variantNM_005663.5(NELFA):c.798C>T (p.Gly266=)not provided [RCV000910033]likely benign419861511986151Humanname
15161067CV734600single nucleotide variantNM_005663.5(NELFA):c.399G>A (p.Ala133=)not provided [RCV000903273]benign419898531989853Humanname
15118970CV734601single nucleotide variantNM_005663.5(NELFA):c.315G>A (p.Ser105=)not provided [RCV000895640]likely benign419916111991611Humanname
15120592CV748888single nucleotide variantNM_005663.5(NELFA):c.891C>T (p.Thr297=)not provided [RCV000918348]likely benign419858091985809Humanname
15136583CV748889single nucleotide variantNM_005663.5(NELFA):c.672A>G (p.Arg224=)not provided [RCV000921034]likely benign419863651986365Humanname
15141438CV748890single nucleotide variantNM_005663.5(NELFA):c.648C>T (p.Gly216=)not provided [RCV000921841]likely benign419863891986389Humanname
15167128CV748891single nucleotide variantNM_005663.5(NELFA):c.477G>A (p.Pro159=)not provided [RCV000927023]likely benign419897751989775Humanname
15194786CV764430single nucleotide variantNM_005663.5(NELFA):c.906C>T (p.Ala302=)not provided [RCV000933743]likely benign419857941985794Humanname
15120903CV764431single nucleotide variantNM_005663.5(NELFA):c.681G>A (p.Thr227=)not provided [RCV000940425]likely benign419863561986356Humanname
8632002CV87208single nucleotide variantNM_002904.5(NELFE):c.756C>T (p.Phe252=)Malignant melanoma [RCV000067299]not provided63195442931954429Humanname
8632003CV87209single nucleotide variantNM_002904.5(NELFE):c.624G>A (p.Arg208=)Malignant melanoma [RCV000067300]not provided63195467331954673Humanname
156050382CV2271875single nucleotide variantNM_198976.4(NELFCD):c.99G>T (p.Glu33Asp)not specified [RCV004130691]uncertain significance205898613158986131Humanname
156068446CV2280667single nucleotide variantNM_002904.6(NELFE):c.143G>A (p.Arg48His)not specified [RCV004143131]uncertain significance63195694331956943Humanname
155996942CV2393254single nucleotide variantNM_005663.5(NELFA):c.107C>T (p.Ala36Val)not specified [RCV004228770]uncertain significance420088532008853Humanname
329382863CV2465445single nucleotide variantNM_198976.4(NELFCD):c.50A>G (p.Asp17Gly)not specified [RCV004281215]uncertain significance205898135958981359Humanname
401923192CV2822350single nucleotide variantNM_005663.5(NELFA):c.1356G>A (p.Thr452=)not provided [RCV003434942]likely benign419836421983642Humanname
405812976CV3349761single nucleotide variantNM_015456.5(NELFB):c.257G>C (p.Gly86Ala)not specified [RCV004483614]uncertain significance9137255917137255917Humanname
405813132CV3349847single nucleotide variantNM_015456.5(NELFB):c.181G>A (p.Gly61Ser)not specified [RCV004483700]uncertain significance9137255546137255546Humanname
407489609CV3454895single nucleotide variantNM_015456.5(NELFB):c.1653C>T (p.His551=)not specified [RCV004641499]likely benign9137272528137272528Humanname
597639617CV3555999single nucleotide variantNM_015456.5(NELFB):c.271T>G (p.Ser91Ala)not specified [RCV004831850]uncertain significance9137255931137255931Humanname
15174663CV698471single nucleotide variantNM_005663.5(NELFA):c.1209C>T (p.Val403=)not provided [RCV000950395]benign419839411983941Humanname
15166834CV709300single nucleotide variantNM_005663.5(NELFA):c.1290C>T (p.Asn430=)not provided [RCV000971270]benign419838601983860Humanname
15157695CV709301single nucleotide variantNM_005663.5(NELFA):c.1023C>T (p.Ser341=)not provided [RCV000969356]likely benign419848211984821Humanname
15162984CV720907single nucleotide variantNM_005663.5(NELFA):c.1335C>T (p.Phe445=)not provided [RCV000881870]benign|likely benign419836631983663Humanname
15107329CV720908single nucleotide variantNM_005663.5(NELFA):c.1251G>A (p.Pro417=)not provided [RCV000893454]likely benign419838991983899Humanname
15190715CV734594single nucleotide variantNM_005663.5(NELFA):c.1170G>A (p.Ala390=)not provided [RCV000910032]likely benign419839801983980Humanname
15121616CV734596single nucleotide variantNM_005663.5(NELFA):c.1104G>A (p.Ala368=)not provided [RCV000896096]likely benign419840461984046Humanname
15168613CV748887single nucleotide variantNM_005663.5(NELFA):c.1080C>T (p.Ser360=)not provided [RCV000927328]likely benign419840701984070Humanname
15106159CV781930single nucleotide variantNM_005663.5(NELFA):c.1362C>T (p.Pro454=)not provided [RCV000976579]likely benign419836361983636Humanname
8625760CV80884single nucleotide variantNM_005663.4(NELFA):c.168C>A (p.Phe56Leu)Malignant melanoma [RCV000060961]not provided420088252008825Humanname
8632001CV87207single nucleotide variantNM_002904.5(NELFE):c.1002C>G (p.Pro334=)Malignant melanoma [RCV000067298]not provided63195377231953772Humanname
156136497CV2196178single nucleotide variantNM_005663.5(NELFA):c.302C>T (p.Pro101Leu)not specified [RCV004073535]uncertain significance419916241991624Humanname
156330999CV2210743single nucleotide variantNM_002904.6(NELFE):c.667G>A (p.Asp223Asn)not specified [RCV004085841]uncertain significance63195463031954630Humanname
156387305CV2221471single nucleotide variantNM_002904.6(NELFE):c.893C>T (p.Ala298Val)not specified [RCV004096752]uncertain significance63195412931954129Humanname
156281156CV2224345single nucleotide variantNM_015456.5(NELFB):c.602A>C (p.Asn201Thr)not specified [RCV004097691]uncertain significance9137256915137256915Humanname
156068724CV2237070single nucleotide variantNM_002904.6(NELFE):c.646C>T (p.Arg216Trp)not specified [RCV004114831]uncertain significance63195465131954651Humanname
155987387CV2248082single nucleotide variantNM_015456.5(NELFB):c.506C>T (p.Pro169Leu)not specified [RCV004115356]uncertain significance9137256424137256424Humanname
156148438CV2265276single nucleotide variantNM_005663.5(NELFA):c.518C>T (p.Thr173Met)not specified [RCV004126379]uncertain significance419897341989734Humanname
156043877CV2268482single nucleotide variantNM_002904.6(NELFE):c.740G>A (p.Arg247His)not specified [RCV004130175]uncertain significance63195455731954557Humanname
156139409CV2280746single nucleotide variantNM_005663.5(NELFA):c.653C>T (p.Pro218Leu)not specified [RCV004143196]uncertain significance419863841986384Humanname
156262545CV2282491single nucleotide variantNM_015456.5(NELFB):c.956G>C (p.Arg319Pro)not specified [RCV004133284]uncertain significance9137264273137264273Humanname
156053741CV2308599single nucleotide variantNM_005663.5(NELFA):c.985C>T (p.Pro329Ser)not specified [RCV004167158]uncertain significance419848591984859Humanname
156060285CV2323082single nucleotide variantNM_002904.6(NELFE):c.377G>T (p.Arg126Leu)not specified [RCV004187500]uncertain significance63195508631955086Humanname
156335277CV2333506single nucleotide variantNM_015456.5(NELFB):c.425A>C (p.Glu142Ala)not specified [RCV004190199]uncertain significance9137256343137256343Humanname
155921798CV2340513single nucleotide variantNM_005663.5(NELFA):c.827A>G (p.Lys276Arg)not specified [RCV004197232]uncertain significance419861221986122Humanname
155902627CV2356496single nucleotide variantNM_002904.6(NELFE):c.791T>C (p.Leu264Pro)not specified [RCV004199413]uncertain significance63195439431954394Humanname
156387558CV2372783single nucleotide variantNM_002904.6(NELFE):c.517C>T (p.Arg173Cys)not specified [RCV004221969]uncertain significance63195478031954780Humanname
156087597CV2388187single nucleotide variantNM_002904.6(NELFE):c.629G>A (p.Arg210Gln)not specified [RCV004234649]uncertain significance63195466831954668Humanname
156227500CV2392733single nucleotide variantNM_002904.6(NELFE):c.739C>T (p.Arg247Cys)not specified [RCV004247106]uncertain significance63195455831954558Humanname
156248443CV2393950single nucleotide variantNM_002904.6(NELFE):c.524G>A (p.Gly175Asp)not specified [RCV004236180]uncertain significance63195477331954773Humanname
156224662CV2399466single nucleotide variantNM_002904.6(NELFE):c.563G>A (p.Arg188Gln)not specified [RCV004242733]uncertain significance63195473431954734Humanname
329400027CV2440408single nucleotide variantNM_005663.5(NELFA):c.991G>C (p.Val331Leu)not specified [RCV004256345]uncertain significance419848531984853Humanname
329389859CV2441376single nucleotide variantNM_015456.5(NELFB):c.851C>T (p.Thr284Met)not specified [RCV004257181]uncertain significance9137263146137263146Humanname
329397020CV2468418single nucleotide variantNM_015456.5(NELFB):c.298G>A (p.Asp100Asn)not specified [RCV004277728]uncertain significance9137255958137255958Humanname
401767172CV2681501single nucleotide variantNM_015456.5(NELFB):c.833G>A (p.Arg278Gln)not specified [RCV004292035]uncertain significance9137263128137263128Humanname
401772858CV2698008single nucleotide variantNM_015456.5(NELFB):c.917C>A (p.Pro306Gln)not specified [RCV004302815]uncertain significance9137263212137263212Humanname
401719101CV2704954single nucleotide variantNM_002904.6(NELFE):c.806A>G (p.Glu269Gly)not specified [RCV004307521]uncertain significance63195437931954379Humanname
401734267CV2709428single nucleotide variantNM_015456.5(NELFB):c.746T>C (p.Val249Ala)not specified [RCV004318682]uncertain significance9137263041137263041Humanname
401762451CV2714144single nucleotide variantNM_002904.6(NELFE):c.495C>A (p.Ser165Arg)not specified [RCV004317395]uncertain significance63195480231954802Humanname
401861800CV2756705single nucleotide variantNM_002904.6(NELFE):c.701G>A (p.Arg234Gln)not specified [RCV004345212]uncertain significance63195459631954596Humanname
401883555CV2757984single nucleotide variantNM_005663.5(NELFA):c.349G>A (p.Val117Ile)not specified [RCV004339158]uncertain significance419915771991577Humanname
401889768CV2758456single nucleotide variantNM_002904.6(NELFE):c.568C>T (p.Arg190Cys)not specified [RCV004335107]uncertain significance63195472931954729Humanname
401863347CV2776763single nucleotide variantNM_002904.6(NELFE):c.664C>G (p.Arg222Gly)not specified [RCV004357913]uncertain significance63195463331954633Humanname
401866769CV2782936single nucleotide variantNM_015456.5(NELFB):c.631C>A (p.Pro211Thr)not specified [RCV004361732]uncertain significance9137256944137256944Humanname
401895332CV2786373single nucleotide variantNM_002904.6(NELFE):c.805G>A (p.Glu269Lys)not specified [RCV004361968]uncertain significance63195438031954380Humanname
405812944CV3349743single nucleotide variantNM_005663.5(NELFA):c.611T>C (p.Leu204Pro)not specified [RCV004483596]uncertain significance419879411987941Humanname
405812955CV3349749single nucleotide variantNM_005663.5(NELFA):c.847G>A (p.Val283Met)not specified [RCV004483602]uncertain significance419858531985853Humanname
405812960CV3349752single nucleotide variantNM_005663.5(NELFA):c.965C>T (p.Thr322Met)not specified [RCV004483605]uncertain significance419848791984879Humanname
405813121CV3349841single nucleotide variantNM_015456.5(NELFB):c.521A>G (p.Lys174Arg)not specified [RCV004483694]uncertain significance9137256834137256834Humanname
405813326CV3349950single nucleotide variantNM_002904.6(NELFE):c.335G>T (p.Arg112Met)not specified [RCV004483803]uncertain significance63195525031955250Humanname
405813330CV3349952single nucleotide variantNM_002904.6(NELFE):c.376C>T (p.Arg126Cys)not specified [RCV004483805]uncertain significance63195508731955087Humanname
405813340CV3349957single nucleotide variantNM_002904.6(NELFE):c.425G>A (p.Arg142Gln)not specified [RCV004483810]uncertain significance63195487231954872Humanname
405813343CV3349959single nucleotide variantNM_002904.6(NELFE):c.491G>A (p.Arg164Gln)not specified [RCV004483812]uncertain significance63195480631954806Humanname
405813362CV3349969single nucleotide variantNM_002904.6(NELFE):c.518G>A (p.Arg173His)not specified [RCV004483822]likely benign63195477931954779Humanname
405813372CV3349975single nucleotide variantNM_002904.6(NELFE):c.547C>G (p.Pro183Ala)not specified [RCV004483828]uncertain significance63195475031954750Humanname
405813492CV3349983single nucleotide variantNM_002904.6(NELFE):c.605G>A (p.Arg202Gln)not specified [RCV004483836]uncertain significance63195469231954692Humanname
405813496CV3350017single nucleotide variantNM_002904.6(NELFE):c.985A>G (p.Ile329Val)not specified [RCV004483870]uncertain significance63195378931953789Humanname
407456453CV3415894single nucleotide variantNM_005663.5(NELFA):c.691G>A (p.Val231Ile)not provided [RCV004598771]uncertain significance419863461986346Humanname
407526289CV3454893single nucleotide variantNM_005663.5(NELFA):c.746G>A (p.Arg249Gln)not specified [RCV004654759]uncertain significance419862911986291Humanname
597638961CV3555983single nucleotide variantNM_005663.5(NELFA):c.425A>G (p.Gln142Arg)not specified [RCV004831834]uncertain significance419898271989827Humanname
597638967CV3555984single nucleotide variantNM_005663.5(NELFA):c.343C>T (p.Pro115Ser)not specified [RCV004831835]uncertain significance419915831991583Humanname
597638983CV3555987single nucleotide variantNM_005663.5(NELFA):c.953C>T (p.Ala318Val)not specified [RCV004831838]uncertain significance419848911984891Humanname
597638989CV3555988single nucleotide variantNM_005663.5(NELFA):c.872C>T (p.Thr291Met)not specified [RCV004831839]uncertain significance419858281985828Humanname
597638994CV3555989single nucleotide variantNM_005663.5(NELFA):c.799G>A (p.Ala267Thr)not specified [RCV004831840]uncertain significance419861501986150Humanname
597639000CV3555990single nucleotide variantNM_005663.5(NELFA):c.856C>T (p.Pro286Ser)not specified [RCV004831841]uncertain significance419858441985844Humanname
597639641CV3555994single nucleotide variantNM_005663.5(NELFA):c.895G>T (p.Asp299Tyr)not specified [RCV004831845]uncertain significance419858051985805Humanname
597639610CV3556000single nucleotide variantNM_015456.5(NELFB):c.533T>A (p.Leu178Gln)not specified [RCV004831851]uncertain significance9137256846137256846Humanname
597639591CV3556004single nucleotide variantNM_015456.5(NELFB):c.943G>A (p.Asp315Asn)not specified [RCV004831855]uncertain significance9137264260137264260Humanname
597639585CV3556005single nucleotide variantNM_015456.5(NELFB):c.944A>T (p.Asp315Val)not specified [RCV004831856]uncertain significance9137264261137264261Humanname
597639559CV3565518single nucleotide variantNM_198976.4(NELFCD):c.122A>G (p.Lys41Arg)not specified [RCV004831861]uncertain significance205898615458986154Humanname
597639238CV3565521single nucleotide variantNM_002904.6(NELFE):c.689G>A (p.Arg230Gln)not specified [RCV004831864]uncertain significance63195460831954608Humanname
597639118CV3565522single nucleotide variantNM_002904.6(NELFE):c.725G>A (p.Arg242Gln)not specified [RCV004831865]uncertain significance63195457231954572Humanname
597639110CV3565523single nucleotide variantNM_002904.6(NELFE):c.610C>T (p.Arg204Trp)not specified [RCV004831866]uncertain significance63195468731954687Humanname
598254429CV3990739single nucleotide variantNM_005663.5(NELFA):c.406A>G (p.Met136Val)not specified [RCV005385501]uncertain significance419898461989846Humanname
598231903CV3990740single nucleotide variantNM_005663.5(NELFA):c.949C>T (p.Pro317Ser)not specified [RCV005381444]uncertain significance419848951984895Humanname
598254444CV3990745single nucleotide variantNM_015456.5(NELFB):c.914A>T (p.Asp305Val)not specified [RCV005385503]uncertain significance9137263209137263209Humanname
598231925CV3990746single nucleotide variantNM_015456.5(NELFB):c.478G>C (p.Val160Leu)not specified [RCV005381448]uncertain significance9137256396137256396Humanname
598254471CV3990752single nucleotide variantNM_002904.6(NELFE):c.392C>A (p.Ser131Tyr)not specified [RCV005385506]uncertain significance63195507131955071Humanname
598231947CV3990753single nucleotide variantNM_002904.6(NELFE):c.658C>T (p.Arg220Trp)not specified [RCV005381452]uncertain significance63195463931954639Humanname
15202106CV720910single nucleotide variantNM_005663.5(NELFA):c.661G>C (p.Ala221Pro)not provided [RCV000891382]benign419863761986376Humanname
8632004CV87210single nucleotide variantNM_002904.5(NELFE):c.331C>T (p.Gln111Ter)Malignant melanoma [RCV000067301]not provided63195525431955254Humanname
156238380CV2193634single nucleotide variantNM_015456.5(NELFB):c.1537C>T (p.Leu513Phe)not specified [RCV004074238]uncertain significance9137272128137272128Humanname
156170229CV2197880single nucleotide variantNM_198976.4(NELFCD):c.383C>G (p.Thr128Ser)not specified [RCV004077110]uncertain significance205898780458987804Humanname
156096094CV2210372single nucleotide variantNM_015456.5(NELFB):c.1733C>T (p.Thr578Ile)not specified [RCV004089522]uncertain significance9137272608137272608Humanname
155923050CV2217540single nucleotide variantNM_002904.6(NELFE):c.1075C>T (p.Arg359Trp)not specified [RCV004090077]uncertain significance63195236931952369Humanname
155975174CV2221337single nucleotide variantNM_005663.5(NELFA):c.1156C>G (p.Pro386Ala)not specified [RCV004094758]uncertain significance419839941983994Humanname
156066240CV2236900single nucleotide variantNM_005663.5(NELFA):c.1012A>C (p.Ile338Leu)not specified [RCV004112906]uncertain significance419848321984832Humanname
156280210CV2252217single nucleotide variantNM_015456.5(NELFB):c.1376T>G (p.Phe459Cys)not specified [RCV004122223]uncertain significance9137267080137267080Humanname
155919884CV2254951single nucleotide variantNM_005663.5(NELFA):c.1121C>T (p.Ala374Val)not specified [RCV004117185]uncertain significance419840291984029Humanname
156197271CV2259248single nucleotide variantNM_015456.5(NELFB):c.1809G>T (p.Lys603Asn)not specified [RCV004122270]uncertain significance9137272850137272850Humanname
156358586CV2260688single nucleotide variantNM_015456.5(NELFB):c.1777G>A (p.Gly593Ser)not specified [RCV004125622]uncertain significance9137272818137272818Humanname
156149003CV2265318single nucleotide variantNM_198976.4(NELFCD):c.712G>A (p.Val238Met)not specified [RCV004128209]uncertain significance205898991258989912Humanname
156045357CV2268595single nucleotide variantNM_005663.5(NELFA):c.1028C>T (p.Thr343Met)not specified [RCV004124010]uncertain significance419848161984816Humanname
155945026CV2269462single nucleotide variantNM_015456.5(NELFB):c.1471C>T (p.Arg491Cys)not specified [RCV004124577]uncertain significance9137267328137267328Humanname
155973773CV2269876single nucleotide variantNM_198976.4(NELFCD):c.932T>C (p.Met311Thr)not specified [RCV004127101]uncertain significance205899105358991053Humanname
156066323CV2270769single nucleotide variantNM_015456.5(NELFB):c.1669A>G (p.Ile557Val)not specified [RCV004131827]uncertain significance9137272544137272544Humanname
155903206CV2274838single nucleotide variantNM_015456.5(NELFB):c.1646A>C (p.His549Pro)not specified [RCV004133039]uncertain significance9137272521137272521Humanname
156251542CV2286860single nucleotide variantNM_198976.4(NELFCD):c.915C>G (p.Phe305Leu)not specified [RCV004142659]uncertain significance205899103658991036Humanname
156182919CV2294768single nucleotide variantNM_005663.5(NELFA):c.1429G>A (p.Val477Met)not specified [RCV004162290]uncertain significance419834771983477Humanname
155978771CV2318161single nucleotide variantNM_005663.5(NELFA):c.1081G>A (p.Ala361Thr)not specified [RCV004179352]likely benign419840691984069Humanname
156215384CV2347855single nucleotide variantNM_015456.5(NELFB):c.1153G>A (p.Asp385Asn)not specified [RCV004195506]uncertain significance9137266340137266340Humanname
156156309CV2367994single nucleotide variantNM_005663.5(NELFA):c.1103C>T (p.Ala368Val)not specified [RCV004223083]uncertain significance419840471984047Humanname
156384481CV2371454single nucleotide variantNM_015456.5(NELFB):c.1123G>A (p.Gly375Ser)not specified [RCV004216713]uncertain significance9137265959137265959Humanname
156165154CV2376326single nucleotide variantNM_005663.5(NELFA):c.1202C>T (p.Pro401Leu)not specified [RCV004222586]uncertain significance419839481983948Humanname
156051599CV2391254single nucleotide variantNM_015456.5(NELFB):c.1462G>A (p.Ala488Thr)not specified [RCV004237264]uncertain significance9137267319137267319Humanname
329391687CV2448882single nucleotide variantNM_015456.5(NELFB):c.1268C>T (p.Pro423Leu)not specified [RCV004261559]uncertain significance9137266972137266972Humanname
401751254CV2696277single nucleotide variantNM_005663.5(NELFA):c.1474G>T (p.Ala492Ser)not specified [RCV004310614]likely benign419834321983432Humanname
401739505CV2722148single nucleotide variantNM_198976.4(NELFCD):c.925A>G (p.Thr309Ala)not specified [RCV004328403]uncertain significance205899104658991046Humanname
401870642CV2755984single nucleotide variantNM_015456.5(NELFB):c.1805G>A (p.Arg602Gln)not specified [RCV004336067]uncertain significance9137272846137272846Humanname
401874568CV2759270single nucleotide variantNM_005663.5(NELFA):c.1151C>T (p.Ala384Val)not specified [RCV004335865]uncertain significance419839991983999Humanname
401890968CV2768868single nucleotide variantNM_005663.5(NELFA):c.1547C>T (p.Thr516Met)not specified [RCV004346979]uncertain significance419833591983359Humanname
401877068CV2793336single nucleotide variantNM_002904.6(NELFE):c.1123A>G (p.Asn375Asp)not specified [RCV004362149]uncertain significance63195232131952321Humanname
405812882CV3349707single nucleotide variantNM_005663.5(NELFA):c.1159A>C (p.Thr387Pro)not specified [RCV004483560]uncertain significance419839911983991Humanname
405812892CV3349713single nucleotide variantNM_005663.5(NELFA):c.1166C>T (p.Ala389Val)not specified [RCV004483566]uncertain significance419839841983984Humanname
405812895CV3349715single nucleotide variantNM_005663.5(NELFA):c.1210G>A (p.Ala404Thr)not specified [RCV004483568]likely benign419839401983940Humanname
405812904CV3349720single nucleotide variantNM_005663.5(NELFA):c.1259A>G (p.Gln420Arg)not specified [RCV004483573]uncertain significance419838911983891Humanname
405812979CV3349763single nucleotide variantNM_015456.5(NELFB):c.1307A>G (p.Asn436Ser)not specified [RCV004483616]uncertain significance9137267011137267011Humanname
405812984CV3349766single nucleotide variantNM_015456.5(NELFB):c.1411G>A (p.Glu471Lys)not specified [RCV004483619]uncertain significance9137267268137267268Humanname
405813029CV3349790single nucleotide variantNM_015456.5(NELFB):c.1690G>C (p.Ala564Pro)not specified [RCV004483643]uncertain significance9137272565137272565Humanname
405813047CV3349800single nucleotide variantNM_015456.5(NELFB):c.1709C>T (p.Ala570Val)not specified [RCV004483653]uncertain significance9137272584137272584Humanname
405813069CV3349812single nucleotide variantNM_015456.5(NELFB):c.1796T>C (p.Leu599Pro)not specified [RCV004483665]uncertain significance9137272837137272837Humanname
405813096CV3349827single nucleotide variantNM_015456.5(NELFB):c.1817C>T (p.Pro606Leu)not specified [RCV004483680]uncertain significance9137272858137272858Humanname
405813188CV3349877single nucleotide variantNM_015456.5(NELFB):c.1016A>G (p.Lys339Arg)not specified [RCV004483730]uncertain significance9137264333137264333Humanname
405813265CV3349917single nucleotide variantNM_198976.4(NELFCD):c.701C>T (p.Ala234Val)not specified [RCV004483770]uncertain significance205898990158989901Humanname
405813280CV3349925single nucleotide variantNM_198976.4(NELFCD):c.797A>G (p.Asp266Gly)not specified [RCV004483778]uncertain significance205899091858990918Humanname
407526286CV3454892single nucleotide variantNM_005663.5(NELFA):c.1428C>A (p.Asp476Glu)not specified [RCV004654758]uncertain significance419834781983478Humanname
407489606CV3454894single nucleotide variantNM_015456.5(NELFB):c.1171C>T (p.Arg391Trp)not specified [RCV004641498]uncertain significance9137266358137266358Humanname
407489613CV3454896single nucleotide variantNM_015456.5(NELFB):c.1745G>T (p.Gly582Val)not specified [RCV004641500]uncertain significance9137272786137272786Humanname
407526293CV3454897single nucleotide variantNM_015456.5(NELFB):c.1876G>A (p.Ala626Thr)not specified [RCV004654760]uncertain significance9137272917137272917Humanname
407526297CV3454899single nucleotide variantNM_198976.4(NELFCD):c.704T>C (p.Met235Thr)not specified [RCV004654762]uncertain significance205898990458989904Humanname
407526300CV3454900single nucleotide variantNM_198976.4(NELFCD):c.452A>G (p.Tyr151Cys)not specified [RCV004654763]uncertain significance205898896958988969Humanname
407526303CV3454901single nucleotide variantNM_002904.6(NELFE):c.1007T>A (p.Leu336Gln)not specified [RCV004654764]uncertain significance63195376731953767Humanname
407526306CV3454902single nucleotide variantNM_002904.6(NELFE):c.1102A>G (p.Ser368Gly)not specified [RCV004654765]uncertain significance63195234231952342Humanname
597638972CV3555985single nucleotide variantNM_005663.5(NELFA):c.1118G>A (p.Arg373Gln)not specified [RCV004831836]uncertain significance419840321984032Humanname
597638977CV3555986single nucleotide variantNM_005663.5(NELFA):c.1495A>G (p.Thr499Ala)not specified [RCV004831837]uncertain significance419834111983411Humanname
597639651CV3555992single nucleotide variantNM_005663.5(NELFA):c.1075C>A (p.Pro359Thr)not specified [RCV004831843]uncertain significance419840751984075Humanname
597639645CV3555993single nucleotide variantNM_005663.5(NELFA):c.1232C>T (p.Pro411Leu)not specified [RCV004831844]uncertain significance419839181983918Humanname
597639638CV3555995single nucleotide variantNM_015456.5(NELFB):c.1682C>T (p.Pro561Leu)not specified [RCV004831846]uncertain significance9137272557137272557Humanname
597639633CV3555996single nucleotide variantNM_015456.5(NELFB):c.1564G>A (p.Asp522Asn)not specified [RCV004831847]uncertain significance9137272155137272155Humanname
597639627CV3555997single nucleotide variantNM_015456.5(NELFB):c.1838C>G (p.Pro613Arg)not specified [RCV004831848]uncertain significance9137272879137272879Humanname
597639622CV3555998single nucleotide variantNM_015456.5(NELFB):c.1621G>A (p.Ala541Thr)not specified [RCV004831849]uncertain significance9137272212137272212Humanname
597639600CV3556002single nucleotide variantNM_015456.5(NELFB):c.1814G>A (p.Ser605Asn)not specified [RCV004831853]uncertain significance9137272855137272855Humanname
597639595CV3556003single nucleotide variantNM_015456.5(NELFB):c.1400G>A (p.Arg467His)not specified [RCV004831854]uncertain significance9137267257137267257Humanname
597639580CV3556006single nucleotide variantNM_198976.4(NELFCD):c.749G>A (p.Arg250His)not specified [RCV004831857]uncertain significance205898994958989949Humanname
597639570CV3556008single nucleotide variantNM_198976.4(NELFCD):c.950A>T (p.Glu317Val)not specified [RCV004831859]uncertain significance205899107158991071Humanname
597639566CV3556009single nucleotide variantNM_198976.4(NELFCD):c.772C>T (p.Arg258Cys)not specified [RCV004831860]uncertain significance205898997258989972Humanname
598254437CV3990741single nucleotide variantNM_005663.5(NELFA):c.1019G>C (p.Ser340Thr)not specified [RCV005385502]uncertain significance419848251984825Humanname
598231909CV3990742single nucleotide variantNM_005663.5(NELFA):c.1193C>T (p.Thr398Ile)not specified [RCV005381445]uncertain significance419839571983957Humanname
598231913CV3990743single nucleotide variantNM_015456.5(NELFB):c.1804C>T (p.Arg602Trp)not specified [RCV005381446]uncertain significance9137272845137272845Humanname
598231919CV3990744single nucleotide variantNM_015456.5(NELFB):c.1421T>C (p.Leu474Pro)not specified [RCV005381447]uncertain significance9137267278137267278Humanname
598254454CV3990747single nucleotide variantNM_198976.4(NELFCD):c.313A>G (p.Thr105Ala)not specified [RCV005385504]uncertain significance205898773458987734Humanname
598231930CV3990748single nucleotide variantNM_198976.4(NELFCD):c.921G>A (p.Met307Ile)not specified [RCV005381449]uncertain significance205899104258991042Humanname
598231936CV3990750single nucleotide variantNM_198976.4(NELFCD):c.958C>T (p.Arg320Cys)not specified [RCV005381450]uncertain significance205899131558991315Humanname
15170943CV709302single nucleotide variantNM_005663.5(NELFA):c.1000G>A (p.Ala334Thr)not provided [RCV000972105]benign419848441984844Humanname
15113785CV720909single nucleotide variantNM_005663.5(NELFA):c.1003T>G (p.Ser335Ala)not provided [RCV000894731]benign419848411984841Humanname
15191477CV734595single nucleotide variantNM_005663.5(NELFA):c.1160C>T (p.Thr387Met)not provided [RCV000910259]likely benign419839901983990Humanname
156342809CV2222485single nucleotide variantNM_198976.4(NELFCD):c.1060G>T (p.Ala354Ser)not specified [RCV004099332]uncertain significance205899141758991417Humanname
156061230CV2305471single nucleotide variantNM_198976.4(NELFCD):c.1348A>G (p.Ser450Gly)not specified [RCV004165188]uncertain significance205899345258993452Humanname
329378764CV2459930single nucleotide variantNM_198976.4(NELFCD):c.1538A>G (p.Lys513Arg)not specified [RCV004279418]uncertain significance205899372158993721Humanname
401780080CV2725861single nucleotide variantNM_198976.4(NELFCD):c.1693C>T (p.Pro565Ser)not specified [RCV004316321]uncertain significance205899422158994221Humanname
401869194CV2766937single nucleotide variantNM_198976.4(NELFCD):c.1021C>A (p.Gln341Lys)not specified [RCV004343323]uncertain significance205899137858991378Humanname
405813222CV3349894single nucleotide variantNM_198976.4(NELFCD):c.1066A>G (p.Ser356Gly)not specified [RCV004483747]uncertain significance205899142358991423Humanname
405813234CV3349900single nucleotide variantNM_198976.4(NELFCD):c.1577C>T (p.Thr526Ile)not specified [RCV004483753]uncertain significance205899376058993760Humanname
597639553CV3565519single nucleotide variantNM_198976.4(NELFCD):c.1562T>C (p.Ile521Thr)not specified [RCV004831862]uncertain significance205899374558993745Humanname
598231941CV3990751single nucleotide variantNM_198976.4(NELFCD):c.1237G>A (p.Val413Met)not specified [RCV005381451]uncertain significance205899300558993005Humanname
15140749CV710425microsatelliteNM_002904.6(NELFE):c.717CCGAGA[1] (p.237DR[2])not provided [RCV000966193]benign63195456931954574Humanname
15171928CV699529microsatelliteNM_002904.6(NELFE):c.610CGGGATCGAGAC[1] (p.205DR[3])not provided [RCV000949923]benign63195466431954675Humanname