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


877 records found for search term shr
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405290203CV3214175single nucleotide variantNM_020859.4(SHROOM3):c.-8T>ASHROOM3-related disorder [RCV003927007]benign47643604576436045Humanname , trait , alternate_id
150534711CV1311540single nucleotide variantNM_020717.5(SHROOM4):c.4212+1G>AX-linked intellectual disability, Stocco dos Santos type [RCV001779386]likely pathogenicX5059826550598265Human1name
155643571CV1668085single nucleotide variantNM_020717.5(SHROOM4):c.3942+1G>AX-linked intellectual disability, Stocco dos Santos type [RCV002287904]uncertain significanceX5060263250602632Human1name
150330861CV1169056single nucleotide variantNM_020859.4(SHROOM3):c.168+119C>Anot provided [RCV001536177]benign47643633976436339Humanname
150333638CV1169057single nucleotide variantNM_020859.4(SHROOM3):c.168+155G>Tnot provided [RCV001537436]benign47643637576436375Humanname
150513855CV1227934single nucleotide variantNM_020859.4(SHROOM3):c.587+131T>Cnot provided [RCV001638212]benign47673106676731066Humanname
150441754CV1233594single nucleotide variantNM_020859.4(SHROOM3):c.4710-44T>Cnot provided [RCV001645282]benign47675640576756405Humanname
150471935CV1270175single nucleotide variantNM_020859.4(SHROOM3):c.168+125G>Tnot provided [RCV001695463]benign47643634576436345Humanname
150464253CV1276352single nucleotide variantNM_020859.4(SHROOM3):c.168+219T>Cnot provided [RCV001710297]benign47643643976436439Humanname
151351850CV1323682single nucleotide variantNM_020717.5(SHROOM4):c.3942+48T>CX-linked intellectual disability, Stocco dos Santos type [RCV001807591]benignX5060258550602585Human1name
10404656CV209087single nucleotide variantNM_020717.5(SHROOM4):c.2896-17A>Gnot specified [RCV000195191]likely benignX5062769250627692Humanname
405292237CV3199780single nucleotide variantNM_001649.4(SHROOM2):c.4311+10T>ASHROOM2-related disorder [RCV003964411]benignX99393769939376Humanname , trait , alternate_id
150433464CV1216918single nucleotide variantNM_020859.4(SHROOM3):c.4710-217A>Gnot provided [RCV001608820]benign47675623276756232Humanname
8587856CV122491single nucleotide variantNM_001649.2(SHROOM2):c.3587+757G>CLung cancer [RCV000103011]uncertain significanceX99336279933627Humanname
150497082CV1236963single nucleotide variantNM_020859.4(SHROOM3):c.5623-172T>Cnot provided [RCV001656027]benign47677863776778637Humanname
150501893CV1241068single nucleotide variantNM_020859.4(SHROOM3):c.5198+253C>Tnot provided [RCV001656964]benign47675719076757190Humanname
150494338CV1267334single nucleotide variantNM_020859.4(SHROOM3):c.3828-264C>Tnot provided [RCV001688362]benign47675404776754047Humanname
150444715CV1278034single nucleotide variantNM_020859.4(SHROOM3):c.3753+183T>Cnot provided [RCV001707177]benign47674210976742109Humanname
8587480CV122111single nucleotide variantNM_020717.3(SHROOM4):c.118-22113G>TLung cancer [RCV000102631]uncertain significanceX5071805050718050Humanname
150477672CV1252048single nucleotide variantNM_020859.4(SHROOM3):c.168+11474G>Anot provided [RCV001672248]benign47644769476447694Human12name
150477672CV1252048single nucleotide variantNM_020859.4(SHROOM3):c.168+11474G>Anot provided [RCV001672248]benign47644769476447695Human12name
150481578CV1279785insertionNM_020859.4(SHROOM3):c.168+118_168+119insTnot provided [RCV001714872]benign47643633876436339Humanname
150434854CV1215995insertionNM_020859.4(SHROOM3):c.168+124_168+125insAAAnot provided [RCV001609184]benign47643634476436345Humanname
150442009CV1264363insertionNM_020859.4(SHROOM3):c.4710-44_4710-43insCTCnot provided [RCV001679346]benign47675640576756406Humanname
8642881CV101865single nucleotide variantNM_020717.5(SHROOM4):c.3168T>C (p.Arg1056=)SHROOM4-related disorder [RCV003974984]|not provided [RCV004713256]|not specified [RCV000082023]benign|conflicting interpretations of pathogenicity|conflicting data from submittersX5060797450607974Humanname , trait , alternate_id
8642884CV101868single nucleotide variantNM_020717.5(SHROOM4):c.3414A>G (p.Glu1138=)SHROOM4-related disorder [RCV003974985]|not provided [RCV004713257]|not specified [RCV000082026]benignX5060772850607728Humanname , trait , alternate_id
150334899CV1164243single nucleotide variantNM_020859.4(SHROOM3):c.2905C>T (p.Arg969Trp)SHROOM3-related disorder [RCV003980653]|not provided [RCV001529945]likely benign47674107876741078Humanname , trait , alternate_id
150409842CV1195966single nucleotide variantNM_020859.4(SHROOM3):c.1691A>C (p.Glu564Ala)SHROOM3-related disorder [RCV003921236]|not provided [RCV001572814]likely benign47673986476739864Humanname , trait , alternate_id
150409651CV1195967single nucleotide variantNM_020859.4(SHROOM3):c.3035C>A (p.Thr1012Asn)SHROOM3-related disorder [RCV003910893]|not provided [RCV001572749]likely benign47674120876741208Humanname , trait , alternate_id
150517202CV1226650single nucleotide variantNM_020859.4(SHROOM3):c.440T>A (p.Leu147His)SHROOM3-related disorder [RCV003980826]|not provided [RCV001639744]benign47671027276710272Humanname , trait , alternate_id
150470729CV1269909single nucleotide variantNM_020859.4(SHROOM3):c.3869C>T (p.Pro1290Leu)SHROOM3-related disorder [RCV003975999]|not provided [RCV001695196]benign47675435276754352Humanname , trait , alternate_id
150521292CV1289048single nucleotide variantNM_020717.5(SHROOM4):c.2481C>T (p.Asp827=)SHROOM4-related disorder [RCV003948699]|not provided [RCV001725812]likely benignX5063359250633592Humanname , trait , alternate_id
152979986CV1678330single nucleotide variantNM_020859.4(SHROOM3):c.179G>T (p.Gly60Val)SHROOM3-related disorder [RCV003903639]|not provided [RCV004716895]|not specified [RCV002246835]benign|likely benign47655561976555619Humanname , trait , alternate_id
155663905CV1852888single nucleotide variantNM_020717.5(SHROOM4):c.2821C>T (p.Pro941Ser)SHROOM4-related disorder [RCV003971300]|not specified [RCV004062320]benignX5063325250633252Humanname , trait , alternate_id
10408387CV209085single nucleotide variantNM_020717.5(SHROOM4):c.4066G>A (p.Val1356Ile)SHROOM4-related disorder [RCV003927807]|not provided [RCV000514408]|not specified [RCV000193677]benign|likely benign|uncertain significanceX5059841250598412Humanname , trait , alternate_id
156113524CV2349129single nucleotide variantNM_001172700.2(SHROOM1):c.1319C>T (p.Pro440Leu)SHROOM1-related disorder [RCV003906610]|not specified [RCV004205971]likely benign|uncertain significance5132824342132824342Humanname , trait , alternate_id
329362306CV2444585single nucleotide variantNM_020717.5(SHROOM4):c.425G>A (p.Cys142Tyr)SHROOM4-related disorder [RCV005399288]|not specified [RCV004256808]likely benign|uncertain significanceX5063564850635648Humanname , trait , alternate_id
401936118CV2796263deletionNM_020717.5(SHROOM4):c.954_965del (p.Ala319_Pro322del)SHROOM4-related disorder [RCV003414089]uncertain significanceX5063510850635119Humanname , trait , alternate_id
401913986CV2799170single nucleotide variantNM_020717.5(SHROOM4):c.2422G>A (p.Asp808Asn)SHROOM4-related disorder [RCV003400312]uncertain significanceX5063365150633651Humanname , trait , alternate_id
401914390CV2799261single nucleotide variantNM_020717.5(SHROOM4):c.1745G>A (p.Arg582Gln)SHROOM4-related disorder [RCV003400379]uncertain significanceX5063432850634328Humanname , trait , alternate_id
401934630CV2800427single nucleotide variantNM_020717.5(SHROOM4):c.1970G>A (p.Ser657Asn)SHROOM4-related disorder [RCV003411981]uncertain significanceX5063410350634103Humanname , trait , alternate_id
401933337CV2804047single nucleotide variantNM_020717.5(SHROOM4):c.1568C>A (p.Ala523Asp)SHROOM4-related disorder [RCV003392811]|not specified [RCV004857969]uncertain significanceX5063450550634505Humanname , trait , alternate_id
401901789CV2804719single nucleotide variantNM_020859.4(SHROOM3):c.3499C>T (p.Pro1167Ser)SHROOM3-related disorder [RCV003393224]uncertain significance47674167276741672Humanname , trait , alternate_id
401923340CV2822595single nucleotide variantNM_020859.4(SHROOM3):c.3474C>G (p.Ala1158=)SHROOM3-related disorder [RCV003929136]|not provided [RCV003435047]likely benign47674164776741647Humanname , trait , alternate_id
401928209CV2822596single nucleotide variantNM_020859.4(SHROOM3):c.3492G>A (p.Gln1164=)SHROOM3-related disorder [RCV003908944]|not provided [RCV003439354]likely benign47674166576741665Humanname , trait , alternate_id
401931155CV2823830single nucleotide variantNM_001649.4(SHROOM2):c.4152C>T (p.Pro1384=)SHROOM2-related disorder [RCV003929191]|not provided [RCV003440948]likely benignX99392079939207Humanname , trait , alternate_id
405280243CV3191699single nucleotide variantNM_001649.4(SHROOM2):c.2859A>G (p.Ala953=)SHROOM2-related disorder [RCV003919833]benignX98982589898258Humanname , trait , alternate_id
405280236CV3191738single nucleotide variantNM_020859.4(SHROOM3):c.2442C>T (p.Thr814=)SHROOM3-related disorder [RCV003919871]likely benign47674061576740615Humanname , trait , alternate_id
405286702CV3192233single nucleotide variantNM_020859.4(SHROOM3):c.4602G>A (p.Pro1534=)SHROOM3-related disorder [RCV003924135]likely benign47675508576755085Humanname , trait , alternate_id
405292713CV3192590single nucleotide variantNM_001649.4(SHROOM2):c.2458G>A (p.Gly820Arg)SHROOM2-related disorder [RCV003929839]benignX98963669896366Humanname , trait , alternate_id
405276021CV3193206single nucleotide variantNM_001649.4(SHROOM2):c.399A>G (p.Pro133=)SHROOM2-related disorder [RCV003974372]benignX98910589891058Humanname , trait , alternate_id
405259237CV3194645single nucleotide variantNM_020717.5(SHROOM4):c.2874A>C (p.Lys958Asn)SHROOM4-related disorder [RCV003894039]likely benignX5063319950633199Humanname , trait , alternate_id
405265278CV3195641single nucleotide variantNM_001649.4(SHROOM2):c.409A>G (p.Thr137Ala)SHROOM2-related disorder [RCV003897335]benignX98910689891068Humanname , trait , alternate_id
405277768CV3196133single nucleotide variantNM_020717.5(SHROOM4):c.2867C>G (p.Thr956Ser)SHROOM4-related disorder [RCV003904650]likely benignX5063320650633206Humanname , trait , alternate_id
405275327CV3196260single nucleotide variantNM_001649.4(SHROOM2):c.3210C>T (p.Arg1070=)SHROOM2-related disorder [RCV003974129]likely benignX99324939932493Humanname , trait , alternate_id
405288323CV3197286single nucleotide variantNM_001649.4(SHROOM2):c.222C>T (p.Ile74=)SHROOM2-related disorder [RCV003982382]likely benignX98737089873708Humanname , trait , alternate_id
405277033CV3198749single nucleotide variantNM_020859.4(SHROOM3):c.4593T>A (p.Pro1531=)SHROOM3-related disorder [RCV003904073]likely benign47675507676755076Humanname , trait , alternate_id
405268379CV3198922single nucleotide variantNM_020859.4(SHROOM3):c.2643G>C (p.Pro881=)SHROOM3-related disorder [RCV003912040]likely benign47674081676740816Humanname , trait , alternate_id
405272296CV3199311single nucleotide variantNM_001649.4(SHROOM2):c.4423A>G (p.Ile1475Val)SHROOM2-related disorder [RCV003914261]benignX99447529944752Humanname , trait , alternate_id
405275821CV3199497single nucleotide variantNM_001649.4(SHROOM2):c.1789C>T (p.Arg597Trp)SHROOM2-related disorder [RCV003916896]|not specified [RCV004858014]likely benign|uncertain significanceX98956979895697Humanname , trait , alternate_id
405275924CV3199505single nucleotide variantNM_001649.4(SHROOM2):c.2794G>T (p.Ala932Ser)SHROOM2-related disorder [RCV003916904]benignX98981939898193Humanname , trait , alternate_id
405283866CV3199732single nucleotide variantNM_020859.4(SHROOM3):c.3160G>T (p.Val1054Leu)SHROOM3-related disorder [RCV003979389]benign47674133376741333Humanname , trait , alternate_id
405266330CV3201910single nucleotide variantNM_001649.4(SHROOM2):c.1827G>A (p.Pro609=)SHROOM2-related disorder [RCV003911399]likely benignX98957359895735Humanname , trait , alternate_id
405266740CV3202078single nucleotide variantNM_020717.5(SHROOM4):c.2750T>G (p.Met917Arg)SHROOM4-related disorder [RCV003911559]uncertain significanceX5063332350633323Humanname , trait , alternate_id
405285154CV3202472single nucleotide variantNM_001649.4(SHROOM2):c.3657C>A (p.Ser1219Arg)SHROOM2-related disorder [RCV003909735]likely benignX99372039937203Humanname , trait , alternate_id
405294178CV3203498single nucleotide variantNM_001649.4(SHROOM2):c.3948G>A (p.Ser1316=)SHROOM2-related disorder [RCV003934027]likely benignX99374949937494Humanname , trait , alternate_id
405260910CV3204384single nucleotide variantNM_001649.4(SHROOM2):c.2569G>A (p.Ala857Thr)SHROOM2-related disorder [RCV003944210]likely benignX98964779896477Humanname , trait , alternate_id
405275142CV3204660single nucleotide variantNM_020859.4(SHROOM3):c.1101T>G (p.Ser367Arg)SHROOM3-related disorder [RCV003952062]likely benign47673927476739274Humanname , trait , alternate_id
405291552CV3205844single nucleotide variantNM_020717.5(SHROOM4):c.4110G>A (p.Gly1370=)SHROOM4-related disorder [RCV003963966]likely benignX5059836850598368Humanname , trait , alternate_id
405291623CV3205879single nucleotide variantNM_020859.4(SHROOM3):c.1263C>T (p.Gly421=)SHROOM3-related disorder [RCV003963996]likely benign47673943676739436Humanname , trait , alternate_id
405291651CV3205970single nucleotide variantNM_020717.5(SHROOM4):c.2339G>A (p.Ser780Asn)SHROOM4-related disorder [RCV003964070]likely benignX5063373450633734Humanname , trait , alternate_id
405285688CV3206488single nucleotide variantNM_020859.4(SHROOM3):c.2799C>T (p.Ser933=)SHROOM3-related disorder [RCV003981204]benign47674097276740972Humanname , trait , alternate_id
405285652CV3206524single nucleotide variantNM_020859.4(SHROOM3):c.316G>C (p.Val106Leu)SHROOM3-related disorder [RCV003981231]likely benign47655575676555756Humanname , trait , alternate_id
405285669CV3206587single nucleotide variantNM_001649.4(SHROOM2):c.783G>A (p.Ser261=)SHROOM2-related disorder [RCV003981273]benignX98946919894691Humanname , trait , alternate_id
405276374CV3206671single nucleotide variantNM_001649.4(SHROOM2):c.1318G>A (p.Ala440Thr)SHROOM2-related disorder [RCV003917111]likely benignX98952269895226Humanname , trait , alternate_id
405292936CV3207051single nucleotide variantNM_001649.4(SHROOM2):c.2693C>T (p.Ala898Val)SHROOM2-related disorder [RCV003931465]benignX98966019896601Humanname , trait , alternate_id
405293163CV3207246single nucleotide variantNM_020859.4(SHROOM3):c.1413T>G (p.Pro471=)SHROOM3-related disorder [RCV003931644]likely benign47673958676739586Humanname , trait , alternate_id
405293392CV3207389single nucleotide variantNM_001649.4(SHROOM2):c.1639G>A (p.Ala547Thr)SHROOM2-related disorder [RCV003931771]benignX98955479895547Humanname , trait , alternate_id
405290636CV3207531single nucleotide variantNM_020859.4(SHROOM3):c.4581C>T (p.Pro1527=)SHROOM3-related disorder [RCV003927108]likely benign47675506476755064Humanname , trait , alternate_id
405292164CV3207884single nucleotide variantNM_020859.4(SHROOM3):c.3393C>T (p.Ser1131=)SHROOM3-related disorder [RCV003929558]benign47674156676741566Humanname , trait , alternate_id
405257911CV3207953single nucleotide variantNM_001649.4(SHROOM2):c.960T>A (p.Pro320=)SHROOM2-related disorder [RCV003941422]likely benignX98948689894868Humanname , trait , alternate_id
405258089CV3208169single nucleotide variantNM_020859.4(SHROOM3):c.2928C>T (p.Ser976=)SHROOM3-related disorder [RCV003941610]likely benign47674110176741101Humanname , trait , alternate_id
405258125CV3208209single nucleotide variantNM_020859.4(SHROOM3):c.4596T>A (p.Pro1532=)SHROOM3-related disorder [RCV003941647]likely benign47675507976755079Humanname , trait , alternate_id
405258150CV3208238single nucleotide variantNM_020859.4(SHROOM3):c.2262C>T (p.Ser754=)SHROOM3-related disorder [RCV003941673]likely benign47674043576740435Humanname , trait , alternate_id
405256162CV3208668single nucleotide variantNM_001649.4(SHROOM2):c.1426G>C (p.Gly476Arg)SHROOM2-related disorder [RCV003939730]benignX98953349895334Humanname , trait , alternate_id
405274537CV3208909single nucleotide variantNM_020859.4(SHROOM3):c.3525C>T (p.Ala1175=)SHROOM3-related disorder [RCV003951696]likely benign47674169876741698Humanname , trait , alternate_id
405271565CV3209486single nucleotide variantNM_001649.4(SHROOM2):c.3991G>T (p.Ala1331Ser)SHROOM2-related disorder [RCV003949801]likely benignX99375379937537Humanname , trait , alternate_id
405288740CV3209878single nucleotide variantNM_001649.4(SHROOM2):c.2453T>C (p.Leu818Pro)SHROOM2-related disorder [RCV003961377]|not specified [RCV004674006]likely benign|uncertain significanceX98963619896361Humanname , trait , alternate_id
405273214CV3210354single nucleotide variantNM_001649.4(SHROOM2):c.3489G>A (p.Thr1163=)SHROOM2-related disorder [RCV003914579]benignX99327729932772Humanname , trait , alternate_id
405277217CV3210564single nucleotide variantNM_001649.4(SHROOM2):c.2889G>A (p.Pro963=)SHROOM2-related disorder [RCV003917386]benignX98982889898288Humanname , trait , alternate_id
405287685CV3210703single nucleotide variantNM_001649.4(SHROOM2):c.483G>A (p.Glu161=)SHROOM2-related disorder [RCV003924463]benignX98943919894391Humanname , trait , alternate_id
405255740CV3210847single nucleotide variantNM_001649.4(SHROOM2):c.4383C>T (p.Asp1461=)SHROOM2-related disorder [RCV003939353]benignX99447129944712Humanname , trait , alternate_id
405262176CV3212832single nucleotide variantNM_001649.4(SHROOM2):c.4464C>T (p.Phe1488=)SHROOM2-related disorder [RCV003944742]likely benignX99447939944793Humanname , trait , alternate_id
405266373CV3213084single nucleotide variantNM_020717.5(SHROOM4):c.2173C>T (p.His725Tyr)SHROOM4-related disorder [RCV003969248]likely benignX5063390050633900Humanname , trait , alternate_id
405284035CV3213493single nucleotide variantNM_020859.4(SHROOM3):c.556G>C (p.Gly186Arg)SHROOM3-related disorder [RCV003922074]benign47673090476730904Humanname , trait , alternate_id
405284308CV3213649single nucleotide variantNM_001649.4(SHROOM2):c.4662C>T (p.Arg1554=)SHROOM2-related disorder [RCV003922219]likely benignX99467489946748Humanname , trait , alternate_id
405286982CV3213845single nucleotide variantNM_001649.4(SHROOM2):c.1549C>T (p.Arg517Cys)SHROOM2-related disorder [RCV003924241]benignX98954579895457Humanname , trait , alternate_id
405289827CV3213948single nucleotide variantNM_020717.5(SHROOM4):c.1387C>A (p.Pro463Thr)SHROOM4-related disorder [RCV003926801]benignX5063468650634686Humanname , trait , alternate_id
405290031CV3214079single nucleotide variantNM_020859.4(SHROOM3):c.2868C>T (p.Ser956=)SHROOM3-related disorder [RCV003926920]likely benign47674104176741041Humanname , trait , alternate_id
405293550CV3214279single nucleotide variantNM_020717.5(SHROOM4):c.2416C>T (p.Pro806Ser)SHROOM4-related disorder [RCV003931980]benignX5063365750633657Humanname , trait , alternate_id
405293608CV3214350single nucleotide variantNM_020717.5(SHROOM4):c.689G>A (p.Arg230Gln)SHROOM4-related disorder [RCV003932042]benignX5063538450635384Humanname , trait , alternate_id
405294712CV3215518single nucleotide variantNM_020859.4(SHROOM3):c.2103A>G (p.Ala701=)SHROOM3-related disorder [RCV003934594]likely benign47674027676740276Humanname , trait , alternate_id
405260959CV3215555single nucleotide variantNM_001649.4(SHROOM2):c.3237C>T (p.Asp1079=)SHROOM2-related disorder [RCV003944286]likely benignX99325209932520Humanname , trait , alternate_id
405265633CV3215610single nucleotide variantNM_001649.4(SHROOM2):c.4163C>T (p.Ala1388Val)SHROOM2-related disorder [RCV003946793]likely benignX99392189939218Humanname , trait , alternate_id
405282183CV3216287single nucleotide variantNM_020717.5(SHROOM4):c.2502C>T (p.Asp834=)SHROOM4-related disorder [RCV003956797]benignX5063357150633571Humanname , trait , alternate_id
405278523CV3216557single nucleotide variantNM_020859.4(SHROOM3):c.619C>T (p.His207Tyr)SHROOM3-related disorder [RCV003954469]benign47673879276738792Humanname , trait , alternate_id
405283260CV3216999single nucleotide variantNM_001649.4(SHROOM2):c.1164A>G (p.Pro388=)SHROOM2-related disorder [RCV003979146]benignX98950729895072Humanname , trait , alternate_id
405287597CV3217860single nucleotide variantNM_001649.4(SHROOM2):c.4821G>C (p.Leu1607Phe)SHROOM2-related disorder [RCV003981983]benignX99469079946907Humanname , trait , alternate_id
405283320CV3218515single nucleotide variantNM_020859.4(SHROOM3):c.3870G>A (p.Pro1290=)SHROOM3-related disorder [RCV003957304]benign47675435376754353Humanname , trait , alternate_id
405270949CV3218786single nucleotide variantNM_001649.4(SHROOM2):c.2453T>G (p.Leu818Arg)SHROOM2-related disorder [RCV003971553]|not provided [RCV004703359]likely benignX98963619896361Humanname , trait , alternate_id
405271558CV3219137single nucleotide variantNM_001649.4(SHROOM2):c.2694G>A (p.Ala898=)SHROOM2-related disorder [RCV003971831]likely benignX98966029896602Humanname , trait , alternate_id
405278600CV3220343single nucleotide variantNM_001649.4(SHROOM2):c.3756A>G (p.Thr1252=)SHROOM2-related disorder [RCV003976570]benignX99373029937302Humanname , trait , alternate_id
405272979CV3220449single nucleotide variantNM_001649.4(SHROOM2):c.3854G>T (p.Gly1285Val)SHROOM2-related disorder [RCV003972267]benignX99374009937400Humanname , trait , alternate_id
405279022CV3220539single nucleotide variantNM_001649.4(SHROOM2):c.2826C>A (p.Asp942Glu)SHROOM2-related disorder [RCV003976718]benignX98982259898225Humanname , trait , alternate_id
405265609CV3220775single nucleotide variantNM_020717.5(SHROOM4):c.3034T>C (p.Leu1012=)SHROOM4-related disorder [RCV003968956]likely benignX5060810850608108Humanname , trait , alternate_id
405266020CV3220992single nucleotide variantNM_001649.4(SHROOM2):c.1985G>A (p.Arg662His)SHROOM2-related disorder [RCV003969135]|not specified [RCV005281524]likely benign|uncertain significanceX98958939895893Humanname , trait , alternate_id
405289642CV3221000single nucleotide variantNM_020859.4(SHROOM3):c.697C>A (p.Pro233Thr)SHROOM3-related disorder [RCV003961880]likely benign47673887076738870Humanname , trait , alternate_id
405293052CV3221235single nucleotide variantNM_001649.4(SHROOM2):c.2573C>G (p.Ala858Gly)SHROOM2-related disorder [RCV003966769]benignX98964819896481Humanname , trait , alternate_id
405272402CV3221638single nucleotide variantNM_001649.4(SHROOM2):c.411C>T (p.Thr137=)SHROOM2-related disorder [RCV003972130]benignX98910709891070Humanname , trait , alternate_id
405278213CV3221743single nucleotide variantNM_001649.4(SHROOM2):c.2535C>T (p.Thr845=)SHROOM2-related disorder [RCV003976329]likely benignX98964439896443Humanname , trait , alternate_id
408374999CV3509193single nucleotide variantNM_020717.5(SHROOM4):c.83G>T (p.Gly28Val)SHROOM4-related disorder [RCV004747695]uncertain significanceX5081393650813936Humanname , trait , alternate_id
408375093CV3509561single nucleotide variantNM_020717.5(SHROOM4):c.3276C>T (p.Leu1092=)SHROOM4-related disorder [RCV004747738]likely benignX5060786650607866Humanname , trait , alternate_id
408367363CV3511386single nucleotide variantNM_001649.4(SHROOM2):c.3342C>T (p.Ser1114=)SHROOM2-related disorder [RCV004758407]likely benignX99326259932625Humanname , trait , alternate_id
408366592CV3511916single nucleotide variantNM_020859.4(SHROOM3):c.1119G>A (p.Thr373=)SHROOM3-related disorder [RCV004756810]likely benign47673929276739292Humanname , trait , alternate_id
408367530CV3517763single nucleotide variantNM_001649.4(SHROOM2):c.1590C>T (p.Arg530=)SHROOM2-related disorder [RCV004758582]likely benignX98954989895498Humanname , trait , alternate_id
12896978CV389601single nucleotide variantNM_020859.4(SHROOM3):c.1405C>G (p.Pro469Ala)SHROOM3-related disorder [RCV003972741]|not provided [RCV001613287]|not specified [RCV000456076]benign47673957876739578Humanname , trait , alternate_id
12896206CV389602single nucleotide variantNM_020859.4(SHROOM3):c.2922G>A (p.Ser974=)SHROOM3-related disorder [RCV003972742]|not provided [RCV001643159]|not specified [RCV000455034]benign47674109576741095Humanname , trait , alternate_id
12896927CV389617single nucleotide variantNM_020859.4(SHROOM3):c.4289G>A (p.Arg1430Gln)SHROOM3-related disorder [RCV003983075]|not provided [RCV004716500]|not specified [RCV000456005]benign47675477276754772Humanname , trait , alternate_id
12895996CV389671single nucleotide variantNM_020859.4(SHROOM3):c.836G>C (p.Gly279Ala)SHROOM3-related disorder [RCV003983073]|not provided [RCV001683503]|not specified [RCV000454736]benign47673900976739009Humanname , trait , alternate_id
12896504CV389672single nucleotide variantNM_020859.4(SHROOM3):c.973T>G (p.Ser325Ala)SHROOM3-related disorder [RCV003972740]|not provided [RCV004717620]|not specified [RCV000455435]benign47673914676739146Humanname , trait , alternate_id
12896685CV389675single nucleotide variantNM_020859.4(SHROOM3):c.2983C>T (p.Leu995=)SHROOM3-related disorder [RCV003983074]|not provided [RCV001598671]|not specified [RCV000455682]benign47674115676741156Humanname , trait , alternate_id
598177623CV4008322single nucleotide variantNM_020717.5(SHROOM4):c.1935A>T (p.Lys645Asn)SHROOM4-related disorder [RCV005393840]likely benignX5063413850634138Humanname , trait , alternate_id
598177630CV4008323single nucleotide variantNM_020717.5(SHROOM4):c.3047G>C (p.Arg1016Pro)SHROOM4-related disorder [RCV005393841]uncertain significanceX5060809550608095Humanname , trait , alternate_id
12892623CV404640single nucleotide variantNM_020717.5(SHROOM4):c.436C>T (p.Arg146Trp)SHROOM4-related disorder [RCV003932775]|X-linked intellectual disability, Stocco dos Santos type [RCV000477701]|not provided [RCV000514889]pathogenic|likely benign|uncertain significanceX5063563750635637Human1name , trait , alternate_id
13528189CV508962single nucleotide variantNM_020717.5(SHROOM4):c.2165G>A (p.Arg722His)SHROOM4-related disorder [RCV003932039]benign|likely benignX5063390850633908Humanname , trait , alternate_id
13830835CV580800microsatelliteNM_020717.5(SHROOM4):c.3393GGA[6] (p.Glu1151del)SHROOM4-related disorder [RCV003980356]|not provided [RCV004808867]|not specified [RCV004026921]benign|likely benignX5060772950607731Humanname , trait , alternate_id
15183658CV698634single nucleotide variantNM_020859.4(SHROOM3):c.4673A>C (p.Gln1558Pro)SHROOM3-related disorder [RCV003915800]|not provided [RCV000952516]benign|likely benign47675515676755156Humanname , trait , alternate_id
15156934CV698635single nucleotide variantNM_020859.4(SHROOM3):c.5914A>G (p.Asn1972Asp)SHROOM3-related disorder [RCV003925871]|not provided [RCV000946792]benign47677910076779100Humanname , trait , alternate_id
15104588CV706339single nucleotide variantNM_001649.4(SHROOM2):c.2195T>A (p.Leu732Gln)SHROOM2-related disorder [RCV003916008]|not provided [RCV000959716]benignX98961039896103Humanname , trait , alternate_id
15203252CV706340single nucleotide variantNM_001649.4(SHROOM2):c.3774G>C (p.Ser1258=)SHROOM2-related disorder [RCV003915969]|not provided [RCV000958309]benignX99373209937320Humanname , trait , alternate_id
15144976CV709464single nucleotide variantNM_020859.4(SHROOM3):c.216T>C (p.Ala72=)SHROOM3-related disorder [RCV003972861]|not provided [RCV000966919]benign47655565676555656Humanname , trait , alternate_id
15174476CV709465single nucleotide variantNM_020859.4(SHROOM3):c.1224T>C (p.Asp408=)SHROOM3-related disorder [RCV003936150]|not provided [RCV000972723]benign47673939776739397Humanname , trait , alternate_id
15136841CV717882single nucleotide variantNM_001649.4(SHROOM2):c.2495C>T (p.Ala832Val)SHROOM2-related disorder [RCV003926260]|not provided [RCV000965516]benignX98964039896403Humanname , trait , alternate_id
15155830CV721071single nucleotide variantNM_020859.4(SHROOM3):c.4519G>A (p.Glu1507Lys)SHROOM3-related disorder [RCV003930514]|not provided [RCV000880497]likely benign47675500276755002Humanname , trait , alternate_id
15112842CV721072single nucleotide variantNM_020859.4(SHROOM3):c.4754T>A (p.Met1585Lys)SHROOM3-related disorder [RCV003922831]|not provided [RCV000894546]benign|likely benign47675649376756493Humanname , trait , alternate_id
15192730CV734716single nucleotide variantNM_020859.4(SHROOM3):c.1839G>A (p.Ala613=)SHROOM3-related disorder [RCV003923141]|not provided [RCV000910629]benign47674001276740012Humanname , trait , alternate_id
15192734CV734717single nucleotide variantNM_020859.4(SHROOM3):c.3160G>A (p.Val1054Met)SHROOM3-related disorder [RCV003923142]|not provided [RCV000910630]benign47674133376741333Humanname , trait , alternate_id
15170072CV734718single nucleotide variantNM_020859.4(SHROOM3):c.4441A>C (p.Thr1481Pro)SHROOM3-related disorder [RCV003958213]|not provided [RCV000905193]benign47675492476754924Humanname , trait , alternate_id
15170077CV734719single nucleotide variantNM_020859.4(SHROOM3):c.4494G>A (p.Pro1498=)SHROOM3-related disorder [RCV003958214]|not provided [RCV000905194]benign47675497776754977Humanname , trait , alternate_id
15140375CV734720single nucleotide variantNM_020859.4(SHROOM3):c.4602G>T (p.Pro1534=)SHROOM3-related disorder [RCV003940830]|not provided [RCV000899308]benign47675508576755085Humanname , trait , alternate_id
21070718CV798330single nucleotide variantNM_020717.5(SHROOM4):c.3626C>T (p.Ala1209Val)SHROOM4-related disorder [RCV003918635]|not provided [RCV000999432]likely benign|uncertain significanceX5060751650607516Humanname , trait , alternate_id
8660691CV135761single nucleotide variantNM_020717.5(SHROOM4):c.96T>C (p.Cys32=)not provided [RCV004703389]|not specified [RCV000118352]benign|likely benignX5081392350813923Humanname
152103916CV1667544single nucleotide variantNM_020717.5(SHROOM4):c.66C>T (p.Gly22=)not provided [RCV002214532]likely benignX5081395350813953Humanname
21070732CV798333single nucleotide variantNM_020717.5(SHROOM4):c.39G>A (p.Val13=)not provided [RCV000999436]uncertain significanceX5081398050813980Humanname
156088400CV2295508single nucleotide variantNM_001649.4(SHROOM2):c.17C>T (p.Pro6Leu)not specified [RCV004160614]uncertain significanceX97865629786562Humanname
405733309CV3311268single nucleotide variantNM_020859.4(SHROOM3):c.11C>A (p.Thr4Asn)not specified [RCV004451310]uncertain significance47643606376436063Humanname
407519210CV3480597single nucleotide variantNM_001649.4(SHROOM2):c.10G>A (p.Ala4Thr)not specified [RCV004676393]uncertain significanceX97865559786555Humanname
151354108CV1327660single nucleotide variantNM_020717.5(SHROOM4):c.747C>T (p.Thr249=)not specified [RCV001817604]likely benignX5063532650635326Humanname
156037440CV2218599single nucleotide variantNM_001649.4(SHROOM2):c.73C>A (p.Arg25Ser)not specified [RCV004090860]uncertain significanceX97866189786618Humanname
156283926CV2249801single nucleotide variantNM_020859.4(SHROOM3):c.74A>G (p.Tyr25Cys)not specified [RCV004122562]uncertain significance47643612676436126Humanname
156157953CV2322613single nucleotide variantNM_020859.4(SHROOM3):c.68G>A (p.Gly23Glu)not specified [RCV004182752]uncertain significance47643612076436120Humanname
329398145CV2464812single nucleotide variantNM_020717.5(SHROOM4):c.64G>A (p.Gly22Ser)not specified [RCV004284761]uncertain significanceX5081395550813955Humanname
401751837CV2702921single nucleotide variantNM_020859.4(SHROOM3):c.88G>A (p.Ala30Thr)not specified [RCV004321251]uncertain significance47643614076436140Humanname
401931162CV2823824single nucleotide variantNM_001649.4(SHROOM2):c.390G>A (p.Ala130=)not provided [RCV003440942]likely benignX98910499891049Humanname
596920625CV3534075single nucleotide variantNM_020717.5(SHROOM4):c.582G>T (p.Ser194=)not specified [RCV004783293]likely benignX5063549150635491Humanname
597719726CV3598964single nucleotide variantNM_020859.4(SHROOM3):c.59C>A (p.Ala20Asp)not specified [RCV004861907]uncertain significance47643611176436111Humanname
597720039CV3598996single nucleotide variantNM_020717.5(SHROOM4):c.76A>G (p.Lys26Glu)not specified [RCV004861939]uncertain significanceX5081394350813943Humanname
598242428CV3914330single nucleotide variantNM_020859.4(SHROOM3):c.56C>T (p.Thr19Met)not specified [RCV005276527]uncertain significance47643610876436108Humanname
13213636CV430829single nucleotide variantNM_020717.5(SHROOM4):c.316C>T (p.Leu106=)not specified [RCV000500258]uncertain significanceX5063826250638262Humanname
13214065CV430830single nucleotide variantNM_020717.5(SHROOM4):c.30C>G (p.Tyr10Ter)not specified [RCV000500798]likely benign|conflicting interpretations of pathogenicityX5081398950813989Humanname
150516740CV1287511single nucleotide variantNM_020859.4(SHROOM3):c.2266C>T (p.Leu756=)not provided [RCV001723488]likely benign47674043976740439Humanname
152999693CV1683264single nucleotide variantNM_020717.5(SHROOM4):c.2631T>C (p.Cys877=)See cases [RCV002252448]uncertain significanceX5063344250633442Humanname
153346260CV1691044single nucleotide variantNM_020717.5(SHROOM4):c.239C>T (p.Ser80Phe)not specified [RCV002271945]uncertain significanceX5069581650695816Humanname
10408458CV209089single nucleotide variantNM_020717.5(SHROOM4):c.266G>A (p.Arg89Lys)not provided [RCV001572841]|not specified [RCV000194219]benign|likely benignX5069578950695789Humanname
10408324CV209090single nucleotide variantNM_020717.5(SHROOM4):c.245G>A (p.Arg82Gln)not specified [RCV000193182]uncertain significanceX5069581050695810Humanname
156186256CV2236169single nucleotide variantNM_001649.4(SHROOM2):c.188C>T (p.Ala63Val)not specified [RCV004107882]uncertain significanceX98736749873674Humanname
156199921CV2237629single nucleotide variantNM_020717.5(SHROOM4):c.277G>A (p.Ala93Thr)not specified [RCV004106560]uncertain significanceX5063830150638301Humanname
156188543CV2292553single nucleotide variantNM_020717.5(SHROOM4):c.287G>A (p.Ser96Asn)not specified [RCV004150324]uncertain significanceX5063829150638291Humanname
156256629CV2322001single nucleotide variantNM_020859.4(SHROOM3):c.196C>G (p.Leu66Val)not specified [RCV004173758]likely benign47655563676555636Humanname
401728352CV2686021single nucleotide variantNM_001649.4(SHROOM2):c.164A>G (p.Lys55Arg)not specified [RCV004297036]uncertain significanceX97867099786709Humanname
401860675CV2758571single nucleotide variantNM_020717.5(SHROOM4):c.293C>T (p.Pro98Leu)not specified [RCV004337658]uncertain significanceX5063828550638285Humanname
401931160CV2823826single nucleotide variantNM_001649.4(SHROOM2):c.2379G>A (p.Thr793=)not provided [RCV003440944]likely benignX98962879896287Humanname
405267033CV3186755single nucleotide variantNM_020717.5(SHROOM4):c.1686G>A (p.Glu562=)not provided [RCV003886836]likely benignX5063438750634387Humanname
405733183CV3311251single nucleotide variantNM_001649.4(SHROOM2):c.266C>T (p.Ala89Val)not specified [RCV004451293]uncertain significanceX98737529873752Humanname
405748508CV3311311single nucleotide variantNM_020717.5(SHROOM4):c.181A>G (p.Ile61Val)not specified [RCV004453423]uncertain significanceX5069587450695874Humanname
405748517CV3311312single nucleotide variantNM_020717.5(SHROOM4):c.211C>A (p.Gln71Lys)not specified [RCV004453424]uncertain significanceX5069584450695844Humanname
405748560CV3311318single nucleotide variantNM_020717.5(SHROOM4):c.283G>C (p.Val95Leu)not specified [RCV004453430]uncertain significanceX5063829550638295Humanname
597719262CV3598912single nucleotide variantNM_001649.4(SHROOM2):c.233A>G (p.Asn78Ser)not specified [RCV004861855]uncertain significanceX98737199873719Humanname
597719376CV3598925single nucleotide variantNM_001649.4(SHROOM2):c.100G>T (p.Gly34Cys)not specified [RCV004861868]uncertain significanceX97866459786645Humanname
597719644CV3598955single nucleotide variantNM_020859.4(SHROOM3):c.233A>C (p.His78Pro)not specified [RCV004861898]uncertain significance47655567376555673Humanname
598256554CV3914363single nucleotide variantNM_020717.5(SHROOM4):c.242T>C (p.Phe81Ser)not specified [RCV005279034]uncertain significanceX5069581350695813Humanname
15163715CV706265single nucleotide variantNM_020717.5(SHROOM4):c.2172T>G (p.Gly724=)not provided [RCV000948156]likely benignX5063390150633901Humanname
15184137CV709466single nucleotide variantNM_020859.4(SHROOM3):c.2295C>T (p.Ser765=)not provided [RCV000975040]benign47674046876740468Humanname
15104181CV764613single nucleotide variantNM_020859.4(SHROOM3):c.1368C>G (p.Ala456=)not provided [RCV000937337]likely benign47673954176739541Humanname
15129871CV782033single nucleotide variantNM_020859.4(SHROOM3):c.2235G>A (p.Pro745=)not provided [RCV000980950]likely benign47674040876740408Humanname
8642885CV101869single nucleotide variantNM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=)X-linked intellectual disability, Stocco dos Santos type [RCV001807031]|not provided [RCV004713258]|not specified [RCV000082027]benign|conflicting interpretations of pathogenicity|conflicting data from submittersX5060767450607674Human1name
126747371CV1019013single nucleotide variantNM_020717.5(SHROOM4):c.775C>A (p.Gln259Lys)X-linked intellectual disability, Stocco dos Santos type [RCV001331135]|not specified [RCV004035711]uncertain significanceX5063529850635298Human1name
126747367CV1019014single nucleotide variantNM_020717.5(SHROOM4):c.724C>T (p.Arg242Cys)X-linked intellectual disability, Stocco dos Santos type [RCV001331134]|not specified [RCV004857786]uncertain significanceX5063534950635349Human1name
151235768CV1163104single nucleotide variantNM_001649.4(SHROOM2):c.631G>A (p.Gly211Ser)Meniere disease [RCV001797192]likely pathogenicX98945399894539Human1name
151353832CV1327384single nucleotide variantNM_020717.5(SHROOM4):c.917C>T (p.Pro306Leu)not specified [RCV001817328]uncertain significanceX5063515650635156Humanname
151353861CV1327413single nucleotide variantNM_020717.5(SHROOM4):c.437G>A (p.Arg146Gln)not specified [RCV001817357]benign|conflicting interpretations of pathogenicity|uncertain significanceX5063563650635636Humanname
8660690CV135760single nucleotide variantNM_020717.5(SHROOM4):c.439C>T (p.His147Tyr)not provided [RCV000955611]|not specified [RCV000118351]benign|likely benignX5063563450635634Humanname
155643570CV1668084single nucleotide variantNM_020717.5(SHROOM4):c.940G>A (p.Glu314Lys)X-linked intellectual disability, Stocco dos Santos type [RCV002287903]uncertain significanceX5063513350635133Human1name
153305621CV1687728single nucleotide variantNM_020717.5(SHROOM4):c.4281C>T (p.His1427=)not provided [RCV002263549]likely benignX5059689650596896Humanname
153349265CV1694132single nucleotide variantNM_020717.5(SHROOM4):c.679C>T (p.Pro227Ser)X-linked intellectual disability, Stocco dos Santos type [RCV002275657]uncertain significanceX5063539450635394Human1name
155663850CV1785829single nucleotide variantNM_020717.5(SHROOM4):c.3384G>A (p.Gln1128=)not specified [RCV004047879]benignX5060775850607758Humanname
155797098CV1860147single nucleotide variantNM_020717.5(SHROOM4):c.384G>T (p.Trp128Cys)X-linked intellectual disability, Stocco dos Santos type [RCV002466788]|not specified [RCV004067557]uncertain significanceX5063819450638194Human1name
10052211CV194487single nucleotide variantNM_020717.5(SHROOM4):c.770G>A (p.Arg257His)not provided [RCV000178326]uncertain significanceX5063530350635303Humanname
10052212CV194488single nucleotide variantNM_020717.5(SHROOM4):c.839G>A (p.Arg280Gln)not provided [RCV000964097]|not specified [RCV000178327]benignX5063523450635234Humanname
10052837CV195401single nucleotide variantNM_020717.5(SHROOM4):c.3390A>G (p.Gln1130=)not provided [RCV000179513]uncertain significanceX5060775250607752Humanname
10408475CV209088single nucleotide variantNM_020717.5(SHROOM4):c.731A>G (p.Asn244Ser)not specified [RCV000194351]likely benignX5063534250635342Humanname
10448917CV214772duplicationNM_020859.4(SHROOM3):c.2848dup (p.Ala950fs)not provided [RCV000202360]uncertain significance47674101676741017Humanname
156263671CV2201184single nucleotide variantNM_020859.4(SHROOM3):c.635G>A (p.Arg212Gln)not specified [RCV004077331]uncertain significance47673880876738808Humanname
155918450CV2205873single nucleotide variantNM_020859.4(SHROOM3):c.319C>T (p.Arg107Cys)not specified [RCV004078310]uncertain significance47655575976555759Humanname
156018762CV2233252single nucleotide variantNM_001649.4(SHROOM2):c.351G>T (p.Trp117Cys)not specified [RCV004105637]uncertain significanceX98910109891010Humanname
156079326CV2248500single nucleotide variantNM_001649.4(SHROOM2):c.433G>A (p.Gly145Ser)not specified [RCV004119629]likely benignX98910929891092Humanname
155984186CV2274498single nucleotide variantNM_001649.4(SHROOM2):c.777G>C (p.Gln259His)not specified [RCV004137122]uncertain significanceX98946859894685Humanname
155928358CV2281088single nucleotide variantNM_001649.4(SHROOM2):c.617G>T (p.Arg206Leu)not specified [RCV004147357]uncertain significanceX98945259894525Humanname
156197020CV2293522single nucleotide variantNM_020859.4(SHROOM3):c.730G>A (p.Gly244Ser)not specified [RCV004153055]likely benign47673890376738903Humanname
156007880CV2299785single nucleotide variantNM_001172700.2(SHROOM1):c.16C>T (p.Pro6Ser)not specified [RCV004148943]uncertain significance5132826125132826125Humanname
156164595CV2319719single nucleotide variantNM_020859.4(SHROOM3):c.647A>G (p.Gln216Arg)not specified [RCV004187256]likely benign47673882076738820Humanname
156257091CV2322040single nucleotide variantNM_020859.4(SHROOM3):c.610A>C (p.Asn204His)not specified [RCV004173790]uncertain significance47673878376738783Humanname
155923544CV2351757single nucleotide variantNM_020859.4(SHROOM3):c.406C>T (p.His136Tyr)not specified [RCV004197915]uncertain significance47671023876710238Humanname
155930935CV2361289single nucleotide variantNM_020859.4(SHROOM3):c.418G>A (p.Ala140Thr)not specified [RCV004218505]uncertain significance47671025076710250Humanname
156187889CV2375250single nucleotide variantNM_020859.4(SHROOM3):c.767G>A (p.Arg256Lys)not specified [RCV004232664]uncertain significance47673894076738940Humanname
243050203CV2415414single nucleotide variantNM_020717.5(SHROOM4):c.326G>T (p.Gly109Val)X-linked intellectual disability, Stocco dos Santos type [RCV003147946]uncertain significanceX5063825250638252Human1name
329351826CV2455357single nucleotide variantNM_001649.4(SHROOM2):c.619G>A (p.Asp207Asn)not specified [RCV004274857]uncertain significanceX98945279894527Humanname
329360429CV2458736single nucleotide variantNM_020717.5(SHROOM4):c.526C>T (p.Pro176Ser)not specified [RCV004268387]uncertain significanceX5063554750635547Humanname
11637967CV266789single nucleotide variantNM_020717.5(SHROOM4):c.547C>G (p.Pro183Ala)not provided [RCV000295000]uncertain significanceX5063552650635526Humanname
401729146CV2673168single nucleotide variantNM_001649.4(SHROOM2):c.820G>A (p.Gly274Ser)not specified [RCV004284148]likely benignX98947289894728Humanname
401756225CV2687040single nucleotide variantNM_020859.4(SHROOM3):c.856A>G (p.Met286Val)not specified [RCV004304362]uncertain significance47673902976739029Humanname
401748075CV2699997single nucleotide variantNM_020859.4(SHROOM3):c.890A>C (p.Glu297Ala)not specified [RCV004310427]uncertain significance47673906376739063Humanname
401763439CV2703841single nucleotide variantNM_020859.4(SHROOM3):c.748A>T (p.Ser250Cys)not specified [RCV004306706]uncertain significance47673892176738921Humanname
401760358CV2709797single nucleotide variantNM_001649.4(SHROOM2):c.385C>A (p.Leu129Ile)not specified [RCV004320776]uncertain significanceX98910449891044Humanname
401884497CV2759345single nucleotide variantNM_020859.4(SHROOM3):c.822C>A (p.His274Gln)not specified [RCV004335928]uncertain significance47673899576738995Humanname
401887550CV2772008single nucleotide variantNM_020717.5(SHROOM4):c.763T>A (p.Ser255Thr)not specified [RCV004344687]uncertain significanceX5063531050635310Humanname
401873295CV2776471single nucleotide variantNM_001172700.2(SHROOM1):c.10C>G (p.Leu4Val)not specified [RCV004355579]uncertain significance5132826131132826131Humanname
401923337CV2822593single nucleotide variantNM_020859.4(SHROOM3):c.442C>T (p.Arg148Trp)not provided [RCV003435045]|not specified [RCV004857978]uncertain significance47671027476710274Humanname
401931156CV2823829single nucleotide variantNM_001649.4(SHROOM2):c.3699C>T (p.Ala1233=)not provided [RCV003440947]likely benignX99372459937245Humanname
401927032CV2828947single nucleotide variantNM_020717.5(SHROOM4):c.4065C>T (p.Ala1355=)not provided [RCV003438328]likely benignX5059841350598413Humanname
401927033CV2828948single nucleotide variantNM_020717.5(SHROOM4):c.4065C>A (p.Ala1355=)not provided [RCV003438329]likely benignX5059841350598413Humanname
401927037CV2828951single nucleotide variantNM_020717.5(SHROOM4):c.3756C>T (p.Ser1252=)not provided [RCV003438332]likely benignX5060738650607386Humanname
401927038CV2828952single nucleotide variantNM_020717.5(SHROOM4):c.3498A>G (p.Ser1166=)not provided [RCV003438333]likely benignX5060764450607644Humanname
404993587CV2851010single nucleotide variantNM_020717.5(SHROOM4):c.384G>A (p.Trp128Ter)not provided [RCV003491481]uncertain significanceX5063819450638194Humanname
405269789CV3187488single nucleotide variantNM_020717.5(SHROOM4):c.763T>G (p.Ser255Ala)not provided [RCV003887572]uncertain significanceX5063531050635310Humanname
405733260CV3311261single nucleotide variantNM_001649.4(SHROOM2):c.616C>T (p.Arg206Cys)not specified [RCV004451303]uncertain significanceX98945249894524Humanname
405733267CV3311262single nucleotide variantNM_001649.4(SHROOM2):c.682G>A (p.Asp228Asn)not specified [RCV004451304]uncertain significanceX98945909894590Humanname
405733271CV3311263single nucleotide variantNM_001649.4(SHROOM2):c.913C>A (p.Pro305Thr)not specified [RCV004451305]uncertain significanceX98948219894821Humanname
405733277CV3311264single nucleotide variantNM_001649.4(SHROOM2):c.950C>T (p.Pro317Leu)not specified [RCV004451306]uncertain significanceX98948589894858Humanname
405748369CV3311290single nucleotide variantNM_020859.4(SHROOM3):c.401C>A (p.Pro134His)not specified [RCV004453402]uncertain significance47671023376710233Humanname
405748588CV3311322single nucleotide variantNM_020717.5(SHROOM4):c.503C>T (p.Ala168Val)not specified [RCV004453434]uncertain significanceX5063557050635570Humanname
405748597CV3311323single nucleotide variantNM_020717.5(SHROOM4):c.514A>G (p.Ser172Gly)not specified [RCV004453435]likely benignX5063555950635559Humanname
405748603CV3311324single nucleotide variantNM_020717.5(SHROOM4):c.533A>G (p.Asp178Gly)not specified [RCV004453436]uncertain significanceX5063554050635540Humanname
405748610CV3311325single nucleotide variantNM_020717.5(SHROOM4):c.725G>A (p.Arg242His)not specified [RCV004453437]uncertain significanceX5063534850635348Humanname
407501339CV3480616single nucleotide variantNM_020859.4(SHROOM3):c.308G>A (p.Arg103Lys)not specified [RCV004669745]uncertain significance47655574876555748Humanname
407501393CV3480627single nucleotide variantNM_020859.4(SHROOM3):c.897G>A (p.Met299Ile)not specified [RCV004669756]uncertain significance47673907076739070Humanname
407572712CV3497200single nucleotide variantNM_020717.5(SHROOM4):c.775C>T (p.Gln259Ter)not provided [RCV004699020]uncertain significanceX5063529850635298Humanname
408380579CV3501207single nucleotide variantNM_020717.5(SHROOM4):c.3951T>A (p.Leu1317=)not provided [RCV004727296]likely benignX5059852750598527Humanname
597719117CV3598894single nucleotide variantNM_001649.4(SHROOM2):c.532G>A (p.Val178Ile)not specified [RCV004861837]uncertain significanceX98944409894440Humanname
597719125CV3598895single nucleotide variantNM_001649.4(SHROOM2):c.748C>T (p.Arg250Trp)not specified [RCV004861838]uncertain significanceX98946569894656Humanname
597719135CV3598896single nucleotide variantNM_001649.4(SHROOM2):c.566C>T (p.Ser189Leu)not specified [RCV004861839]uncertain significanceX98944749894474Humanname
597719216CV3598906single nucleotide variantNM_001649.4(SHROOM2):c.416G>A (p.Gly139Asp)not specified [RCV004861849]uncertain significanceX98910759891075Humanname
597719244CV3598910single nucleotide variantNM_001649.4(SHROOM2):c.964C>T (p.Arg322Cys)not specified [RCV004861853]uncertain significanceX98948729894872Humanname
597719287CV3598915single nucleotide variantNM_001649.4(SHROOM2):c.937T>C (p.Ser313Pro)not specified [RCV004861858]uncertain significanceX98948459894845Humanname
597719368CV3598924single nucleotide variantNM_001649.4(SHROOM2):c.820G>T (p.Gly274Cys)not specified [RCV004861867]uncertain significanceX98947289894728Humanname
597719394CV3598927single nucleotide variantNM_001649.4(SHROOM2):c.859G>A (p.Glu287Lys)not specified [RCV004861870]uncertain significanceX98947679894767Humanname
597719427CV3598931single nucleotide variantNM_020859.4(SHROOM3):c.373G>A (p.Val125Ile)not specified [RCV004861874]likely benign47671020576710205Humanname
597719523CV3598942single nucleotide variantNM_020859.4(SHROOM3):c.845G>A (p.Arg282His)not specified [RCV004861885]uncertain significance47673901876739018Humanname
597719555CV3598946single nucleotide variantNM_020859.4(SHROOM3):c.612C>G (p.Asn204Lys)not specified [RCV004861889]uncertain significance47673878576738785Humanname
597719784CV3598970single nucleotide variantNM_020859.4(SHROOM3):c.944G>C (p.Arg315Thr)not specified [RCV004861913]uncertain significance47673911776739117Humanname
597719844CV3598976single nucleotide variantNM_020717.5(SHROOM4):c.748C>G (p.Pro250Ala)not specified [RCV004861919]uncertain significanceX5063532550635325Humanname
597719872CV3598979single nucleotide variantNM_020717.5(SHROOM4):c.527C>G (p.Pro176Arg)not specified [RCV004861922]uncertain significanceX5063554650635546Humanname
597719997CV3598992single nucleotide variantNM_020717.5(SHROOM4):c.886C>T (p.Arg296Cys)not specified [RCV004861935]uncertain significanceX5063518750635187Humanname
597720019CV3598994single nucleotide variantNM_020717.5(SHROOM4):c.641C>T (p.Thr214Ile)not specified [RCV004861937]uncertain significanceX5063543250635432Humanname
598126107CV3881777single nucleotide variantNM_020717.5(SHROOM4):c.721C>T (p.Arg241Trp)not provided [RCV005233328]uncertain significanceX5063535250635352Humanname
598242288CV3914302single nucleotide variantNM_001649.4(SHROOM2):c.896G>A (p.Gly299Glu)not specified [RCV005276500]uncertain significanceX98948049894804Humanname
598242455CV3914335single nucleotide variantNM_020859.4(SHROOM3):c.997A>G (p.Arg333Gly)not specified [RCV005276532]uncertain significance47673917076739170Humanname
598199350CV3914340single nucleotide variantNM_020859.4(SHROOM3):c.616G>A (p.Asp206Asn)not specified [RCV005268381]uncertain significance47673878976738789Humanname
598256511CV3914354single nucleotide variantNM_020717.5(SHROOM4):c.451G>A (p.Glu151Lys)not specified [RCV005279025]uncertain significanceX5063562250635622Humanname
598256569CV3914366single nucleotide variantNM_020717.5(SHROOM4):c.518A>T (p.His173Leu)not specified [RCV005279037]uncertain significanceX5063555550635555Humanname
12901011CV411405single nucleotide variantNM_020717.5(SHROOM4):c.769C>T (p.Arg257Cys)not provided [RCV000483678]conflicting interpretations of pathogenicity|uncertain significanceX5063530450635304Humanname
13830828CV580792single nucleotide variantNM_020717.5(SHROOM4):c.3504C>T (p.Thr1168=)History of neurodevelopmental disorder [RCV000721065]|not provided [RCV000965522]likely benignX5060763850607638Humanname
13830831CV581036single nucleotide variantNM_020717.5(SHROOM4):c.509A>G (p.Tyr170Cys)History of neurodevelopmental disorder [RCV000721070]uncertain significanceX5063556450635564Humanname
13833188CV584416single nucleotide variantNM_020717.5(SHROOM4):c.325G>A (p.Gly109Arg)not provided [RCV000728365]uncertain significanceX5063825350638253Humanname
8625849CV80973single nucleotide variantNM_020859.3(SHROOM3):c.3963C>T (p.Asp1321=)Malignant melanoma [RCV000061051]not provided47675444676754446Humanname
8625850CV80974single nucleotide variantNM_020859.3(SHROOM3):c.5736C>T (p.Tyr1912=)Malignant melanoma [RCV000061052]not provided47677892276778922Humanname
8631288CV86448single nucleotide variantNM_020859.3(SHROOM3):c.880G>A (p.Gly294Ser)Malignant melanoma [RCV000066539]not provided47673905376739053Humanname
34891326CV904731single nucleotide variantNM_020717.5(SHROOM4):c.3033C>T (p.Asp1011=)not provided [RCV001172007]likely benignX5060810950608109Humanname
126733424CV1001276single nucleotide variantNM_020717.5(SHROOM4):c.1913C>G (p.Ser638Cys)not provided [RCV001311076]likely benignX5063416050634160Humanname
8642880CV101864single nucleotide variantNM_020717.5(SHROOM4):c.1100T>C (p.Val367Ala)not provided [RCV000082022]uncertain significanceX5063497350634973Humanname
126747361CV1019009single nucleotide variantNM_020717.5(SHROOM4):c.2519C>T (p.Thr840Ile)X-linked intellectual disability, Stocco dos Santos type [RCV001331132]uncertain significanceX5063355450633554Human1name
126747357CV1019010single nucleotide variantNM_020717.5(SHROOM4):c.1859T>C (p.Val620Ala)X-linked intellectual disability, Stocco dos Santos type [RCV001331131]uncertain significanceX5063421450634214Human1name
126747355CV1019011single nucleotide variantNM_020717.5(SHROOM4):c.1589C>T (p.Ser530Phe)X-linked intellectual disability, Stocco dos Santos type [RCV001331130]uncertain significanceX5063448450634484Human1name
126747349CV1019012single nucleotide variantNM_020717.5(SHROOM4):c.1157A>G (p.Glu386Gly)X-linked intellectual disability, Stocco dos Santos type [RCV001331129]uncertain significanceX5063491650634916Human1name
126912034CV1038893single nucleotide variantNM_020717.5(SHROOM4):c.2453G>A (p.Cys818Tyr)not specified [RCV001356063]benign|likely benignX5063362050633620Humanname
150409801CV1196377single nucleotide variantNM_020717.5(SHROOM4):c.1972A>G (p.Met658Val)not provided [RCV001572799]|not specified [RCV001726587]benign|likely benignX5063410150634101Humanname
150521288CV1289047single nucleotide variantNM_020717.5(SHROOM4):c.2891T>G (p.Val964Gly)not provided [RCV001725811]uncertain significanceX5063318250633182Humanname
151234434CV1320923single nucleotide variantNM_020717.5(SHROOM4):c.1460T>G (p.Leu487Trp)X-linked intellectual disability, Stocco dos Santos type [RCV001801275]uncertain significanceX5063461350634613Human1name
151662882CV1333519single nucleotide variantNM_020717.5(SHROOM4):c.1442A>G (p.Asp481Gly)not provided [RCV001837711]likely benignX5063463150634631Humanname
151663389CV1333922single nucleotide variantNM_020717.5(SHROOM4):c.1214C>A (p.Pro405His)X-linked intellectual disability, Stocco dos Santos type [RCV001839097]|not specified [RCV004857813]uncertain significanceX5063485950634859Human1name
151663610CV1334076single nucleotide variantNM_020717.5(SHROOM4):c.1448G>C (p.Arg483Thr)X-linked intellectual disability, Stocco dos Santos type [RCV001839250]uncertain significanceX5063462550634625Human1name
8660683CV135753duplicationNM_020717.5(SHROOM4):c.3415dup (p.Glu1139fs)not provided [RCV001573995]|not specified [RCV001727577]benign|likely benign|uncertain significanceX5060772650607727Humanname
8660684CV135754single nucleotide variantNM_020717.5(SHROOM4):c.1627A>T (p.Thr543Ser)not provided [RCV000955610]|not specified [RCV000118345]benign|likely benignX5063444650634446Humanname
8660685CV135755single nucleotide variantNM_020717.5(SHROOM4):c.1879C>T (p.Pro627Ser)History of neurodevelopmental disorder [RCV000720972]|not provided [RCV001573621]|not specified [RCV000118346]likely benign|uncertain significanceX5063419450634194Humanname
152103914CV1667543single nucleotide variantNM_020717.5(SHROOM4):c.1946C>T (p.Pro649Leu)not provided [RCV002214531]uncertain significanceX5063412750634127Humanname
153345862CV1691487single nucleotide variantNM_020717.5(SHROOM4):c.2440A>C (p.Met814Leu)X-linked intellectual disability, Stocco dos Santos type [RCV002272970]uncertain significanceX5063363350633633Human1name
155731738CV1826025single nucleotide variantNM_020717.5(SHROOM4):c.1288G>T (p.Gly430Cys)not specified [RCV004057787]benignX5063478550634785Humanname
155707590CV1833444single nucleotide variantNM_020717.5(SHROOM4):c.1541G>T (p.Arg514Ile)not provided [RCV003439015]|not specified [RCV004059023]benign|likely benignX5063453250634532Humanname
156369111CV1887848single nucleotide variantNM_020859.4(SHROOM3):c.2831G>C (p.Arg944Pro)not provided [RCV003092279]uncertain significance47674100476741004Humanname
10052210CV194486single nucleotide variantNM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly)X-linked intellectual disability, Stocco dos Santos type [RCV000613790]|not provided [RCV001726023]|not specified [RCV000178325]benign|likely benignX5063388150633881Human1name
10448918CV214773single nucleotide variantNM_020859.4(SHROOM3):c.1176C>G (p.Tyr392Ter)not provided [RCV000202361]likely pathogenic|uncertain significance47673934976739349Humanname
155918315CV2195850single nucleotide variantNM_020717.5(SHROOM4):c.2480A>G (p.Asp827Gly)not specified [RCV004076191]uncertain significanceX5063359350633593Humanname
156399486CV2205148single nucleotide variantNM_020859.4(SHROOM3):c.1381C>A (p.Pro461Thr)not specified [RCV004077745]uncertain significance47673955476739554Humanname
156401289CV2210828single nucleotide variantNM_020859.4(SHROOM3):c.1777A>G (p.Ser593Gly)not specified [RCV004085917]likely benign47673995076739950Humanname
156250825CV2215699single nucleotide variantNM_020717.5(SHROOM4):c.2468G>A (p.Arg823His)not specified [RCV004091226]uncertain significanceX5063360550633605Humanname
155923941CV2217759single nucleotide variantNM_001649.4(SHROOM2):c.2864G>A (p.Arg955Gln)not specified [RCV004083939]uncertain significanceX98982639898263Humanname
155986471CV2233998single nucleotide variantNM_020859.4(SHROOM3):c.2549A>G (p.Asn850Ser)not specified [RCV004106121]uncertain significance47674072276740722Humanname
156184952CV2239300single nucleotide variantNM_020859.4(SHROOM3):c.2397T>G (p.Ser799Arg)not specified [RCV004112262]uncertain significance47674057076740570Humanname
155970316CV2241350single nucleotide variantNM_001649.4(SHROOM2):c.2956G>T (p.Ala986Ser)not specified [RCV004102484]uncertain significanceX99322399932239Humanname
156082926CV2244437single nucleotide variantNM_001649.4(SHROOM2):c.1669C>T (p.Arg557Cys)not specified [RCV004100404]uncertain significanceX98955779895577Humanname
156173350CV2247593single nucleotide variantNM_020717.5(SHROOM4):c.1516G>A (p.Glu506Lys)not specified [RCV004108893]uncertain significanceX5063455750634557Humanname
155994921CV2249365single nucleotide variantNM_020717.5(SHROOM4):c.2007C>A (p.Ser669Arg)not specified [RCV004118377]uncertain significanceX5063406650634066Humanname
156076834CV2251408single nucleotide variantNM_020859.4(SHROOM3):c.1350T>A (p.His450Gln)not specified [RCV004117391]uncertain significance47673952376739523Humanname
155923174CV2251873single nucleotide variantNM_020859.4(SHROOM3):c.1408G>C (p.Val470Leu)not specified [RCV004119854]uncertain significance47673958176739581Humanname
156193163CV2255452single nucleotide variantNM_020859.4(SHROOM3):c.2459C>T (p.Thr820Ile)not specified [RCV004117806]uncertain significance47674063276740632Humanname
156240749CV2265593single nucleotide variantNM_001649.4(SHROOM2):c.1175A>G (p.His392Arg)not specified [RCV004124329]likely benignX98950839895083Humanname
156070831CV2267190single nucleotide variantNM_001649.4(SHROOM2):c.1460C>T (p.Ala487Val)not specified [RCV004133876]likely benignX98953689895368Humanname
156075058CV2273216single nucleotide variantNM_020717.5(SHROOM4):c.1382G>T (p.Cys461Phe)not specified [RCV004132014]uncertain significanceX5063469150634691Humanname
155949026CV2273599single nucleotide variantNM_020717.5(SHROOM4):c.2917A>G (p.Asn973Asp)not specified [RCV004134118]uncertain significanceX5062765450627654Humanname
156247968CV2276940single nucleotide variantNM_020859.4(SHROOM3):c.2462C>A (p.Ser821Tyr)not specified [RCV004140274]uncertain significance47674063576740635Humanname
155928936CV2281325single nucleotide variantNM_020717.5(SHROOM4):c.1778G>A (p.Arg593His)not specified [RCV004147554]uncertain significanceX5063429550634295Humanname
155986372CV2282560single nucleotide variantNM_020859.4(SHROOM3):c.2045G>A (p.Arg682Gln)not specified [RCV004135131]uncertain significance47674021876740218Humanname
155941258CV2294221single nucleotide variantNM_020717.5(SHROOM4):c.2231G>C (p.Gly744Ala)not specified [RCV004149575]uncertain significanceX5063384250633842Humanname
155900985CV2298119single nucleotide variantNM_001649.4(SHROOM2):c.1153C>T (p.Pro385Ser)not specified [RCV004159785]likely benignX98950619895061Humanname
156054423CV2308669single nucleotide variantNM_001649.4(SHROOM2):c.2486C>G (p.Pro829Arg)not specified [RCV004167217]uncertain significanceX98963949896394Humanname
156350300CV2316184single nucleotide variantNM_020859.4(SHROOM3):c.2525G>A (p.Gly842Asp)not specified [RCV004174227]uncertain significance47674069876740698Humanname
156276129CV2316512single nucleotide variantNM_020717.5(SHROOM4):c.1154A>G (p.Asn385Ser)not specified [RCV004169981]uncertain significanceX5063491950634919Humanname
156056568CV2320627single nucleotide variantNM_020717.5(SHROOM4):c.2713T>C (p.Ser905Pro)not specified [RCV004172242]uncertain significanceX5063336050633360Humanname
156193860CV2322002single nucleotide variantNM_020717.5(SHROOM4):c.1933A>C (p.Lys645Gln)not specified [RCV004173759]uncertain significanceX5063414050634140Humanname
156300490CV2322494single nucleotide variantNM_001649.4(SHROOM2):c.1452C>G (p.Asp484Glu)not specified [RCV004180615]uncertain significanceX98953609895360Humanname
155976343CV2324676single nucleotide variantNM_001649.4(SHROOM2):c.1681G>C (p.Ala561Pro)not specified [RCV004172920]uncertain significanceX98955899895589Humanname
156253125CV2325474single nucleotide variantNM_001649.4(SHROOM2):c.2992T>A (p.Cys998Ser)not specified [RCV004179926]likely benignX99322759932275Humanname
156191628CV2325620single nucleotide variantNM_001649.4(SHROOM2):c.1719T>A (p.Asp573Glu)not specified [RCV004180036]uncertain significanceX98956279895627Humanname
156186029CV2332479single nucleotide variantNM_020859.4(SHROOM3):c.1193G>A (p.Arg398His)not specified [RCV004196204]uncertain significance47673936676739366Humanname
156283137CV2334643single nucleotide variantNM_020859.4(SHROOM3):c.2096C>T (p.Thr699Ile)not specified [RCV004188628]uncertain significance47674026976740269Humanname
156283146CV2360548single nucleotide variantNM_020859.4(SHROOM3):c.2861C>T (p.Ser954Leu)not specified [RCV004211308]uncertain significance47674103476741034Humanname
156082264CV2368895single nucleotide variantNM_001649.4(SHROOM2):c.1178C>A (p.Ala393Glu)not provided [RCV003435948]|not specified [RCV004207851]likely benign|uncertain significanceX98950869895086Humanname
156209375CV2370102single nucleotide variantNM_001649.4(SHROOM2):c.1495A>G (p.Thr499Ala)not specified [RCV004210993]uncertain significanceX98954039895403Humanname
155937792CV2373831single nucleotide variantNM_020717.5(SHROOM4):c.1693C>T (p.Arg565Trp)not specified [RCV004224767]uncertain significanceX5063438050634380Humanname
156261019CV2381269single nucleotide variantNM_001649.4(SHROOM2):c.1600C>T (p.Arg534Trp)not specified [RCV004227331]uncertain significanceX98955089895508Humanname
156391795CV2382611single nucleotide variantNM_001649.4(SHROOM2):c.1532C>T (p.Thr511Met)not specified [RCV004232935]uncertain significanceX98954409895440Humanname
156053204CV2388518single nucleotide variantNM_001649.4(SHROOM2):c.2858C>A (p.Ala953Glu)not specified [RCV004237370]uncertain significanceX98982579898257Humanname
156046896CV2390896single nucleotide variantNM_020859.4(SHROOM3):c.1229A>C (p.Lys410Thr)not specified [RCV004234911]uncertain significance47673940276739402Humanname
156007853CV2392662single nucleotide variantNM_020859.4(SHROOM3):c.1217G>A (p.Ser406Asn)not specified [RCV004247043]uncertain significance47673939076739390Humanname
156267671CV2398354single nucleotide variantNM_020859.4(SHROOM3):c.1519G>A (p.Ala507Thr)not specified [RCV004237692]uncertain significance47673969276739692Humanname
329388860CV2438344single nucleotide variantNM_020859.4(SHROOM3):c.1879G>A (p.Glu627Lys)not specified [RCV004257094]uncertain significance47674005276740052Humanname
329365616CV2440933single nucleotide variantNM_020859.4(SHROOM3):c.1982C>A (p.Ala661Asp)not specified [RCV004261322]uncertain significance47674015576740155Humanname
329374370CV2443865single nucleotide variantNM_001649.4(SHROOM2):c.1301A>G (p.Asp434Gly)not specified [RCV004258204]uncertain significanceX98952099895209Humanname
329355526CV2445523single nucleotide variantNM_020859.4(SHROOM3):c.1859C>T (p.Ser620Phe)not specified [RCV004257577]uncertain significance47674003276740032Humanname
329393875CV2449924single nucleotide variantNM_020859.4(SHROOM3):c.2083T>C (p.Cys695Arg)not specified [RCV004268998]uncertain significance47674025676740256Humanname
329379463CV2456130single nucleotide variantNM_020717.5(SHROOM4):c.2615G>T (p.Cys872Phe)not specified [RCV004273326]uncertain significanceX5063345850633458Humanname
329368145CV2457066single nucleotide variantNM_020717.5(SHROOM4):c.2712T>G (p.Cys904Trp)not specified [RCV004264851]uncertain significanceX5063336150633361Humanname
329395681CV2462930single nucleotide variantNM_020717.5(SHROOM4):c.2876C>T (p.Pro959Leu)not specified [RCV004272769]uncertain significanceX5063319750633197Humanname
329380360CV2466580single nucleotide variantNM_001649.4(SHROOM2):c.1030G>A (p.Ala344Thr)not specified [RCV004274112]uncertain significanceX98949389894938Humanname
329392826CV2468977single nucleotide variantNM_001649.4(SHROOM2):c.2863C>G (p.Arg955Gly)not specified [RCV004274242]uncertain significanceX98982629898262Humanname
329398505CV2471128single nucleotide variantNM_020717.5(SHROOM4):c.1993T>C (p.Ser665Pro)not specified [RCV004278381]uncertain significanceX5063408050634080Humanname
401742342CV2673759single nucleotide variantNM_020859.4(SHROOM3):c.2942C>T (p.Thr981Met)not specified [RCV004293146]uncertain significance47674111576741115Humanname
401738750CV2676364single nucleotide variantNM_020717.5(SHROOM4):c.1135G>A (p.Val379Met)not specified [RCV004286390]likely benignX5063493850634938Humanname
401768724CV2686351single nucleotide variantNM_001649.4(SHROOM2):c.1680A>T (p.Lys560Asn)not specified [RCV004297426]uncertain significanceX98955889895588Humanname
401782453CV2686867single nucleotide variantNM_020717.5(SHROOM4):c.2051G>A (p.Arg684Gln)not specified [RCV004302045]likely benignX5063402250634022Humanname
401744938CV2693145single nucleotide variantNM_001172700.2(SHROOM1):c.61G>A (p.Asp21Asn)not specified [RCV004293081]uncertain significance5132826080132826080Humanname
401759213CV2694456single nucleotide variantNM_020859.4(SHROOM3):c.2948G>A (p.Arg983Gln)not specified [RCV004304623]uncertain significance47674112176741121Humanname
401744435CV2697000single nucleotide variantNM_020859.4(SHROOM3):c.1054C>T (p.Arg352Trp)not specified [RCV004292991]uncertain significance47673922776739227Humanname
401735186CV2699192single nucleotide variantNM_020717.5(SHROOM4):c.2628C>G (p.His876Gln)not specified [RCV004303687]uncertain significanceX5063344550633445Humanname
401777934CV2704464single nucleotide variantNM_020859.4(SHROOM3):c.2498G>A (p.Arg833His)not specified [RCV004313211]likely benign47674067176740671Humanname
401764483CV2705032single nucleotide variantNM_020859.4(SHROOM3):c.1177G>A (p.Ala393Thr)not specified [RCV004309952]uncertain significance47673935076739350Humanname
401760220CV2709673single nucleotide variantNM_020859.4(SHROOM3):c.1230A>T (p.Lys410Asn)not specified [RCV004318883]uncertain significance47673940376739403Humanname
401764643CV2721434single nucleotide variantNM_020859.4(SHROOM3):c.2002A>G (p.Ile668Val)not specified [RCV004322173]uncertain significance47674017576740175Humanname
401767104CV2721534single nucleotide variantNM_001649.4(SHROOM2):c.1994C>T (p.Ala665Val)not specified [RCV004316050]likely benignX98959029895902Humanname
401729375CV2733000single nucleotide variantNM_001649.4(SHROOM2):c.1004C>T (p.Ala335Val)not specified [RCV004331174]uncertain significanceX98949129894912Humanname
401863033CV2755801single nucleotide variantNM_020859.4(SHROOM3):c.2906G>A (p.Arg969Gln)not specified [RCV004342174]uncertain significance47674107976741079Humanname
401866259CV2762584single nucleotide variantNM_001649.4(SHROOM2):c.1685G>T (p.Ser562Ile)not specified [RCV004338108]uncertain significanceX98955939895593Humanname
401866262CV2762585single nucleotide variantNM_001649.4(SHROOM2):c.1746G>C (p.Gln582His)not specified [RCV004338109]uncertain significanceX98956549895654Humanname
401856686CV2764876single nucleotide variantNM_020859.4(SHROOM3):c.2143C>A (p.His715Asn)not specified [RCV004334970]uncertain significance47674031676740316Humanname
401857678CV2767436single nucleotide variantNM_020859.4(SHROOM3):c.1346A>G (p.Lys449Arg)not specified [RCV004349589]uncertain significance47673951976739519Humanname
401876443CV2770879single nucleotide variantNM_020859.4(SHROOM3):c.1058G>A (p.Gly353Asp)not specified [RCV004343554]uncertain significance47673923176739231Humanname
401892553CV2782195single nucleotide variantNM_020859.4(SHROOM3):c.2991G>T (p.Arg997Ser)not specified [RCV004359171]uncertain significance47674116476741164Humanname
401867456CV2792526single nucleotide variantNM_020859.4(SHROOM3):c.1463A>G (p.Asn488Ser)not specified [RCV004363569]uncertain significance47673963676739636Humanname
401918894CV2794693single nucleotide variantNM_020717.5(SHROOM4):c.1628C>T (p.Thr543Ile)not specified [RCV003388367]uncertain significanceX5063444550634445Humanname
401923339CV2822594single nucleotide variantNM_020859.4(SHROOM3):c.2849C>T (p.Ala950Val)not provided [RCV003435046]uncertain significance47674102276741022Humanname
401931161CV2823825single nucleotide variantNM_001649.4(SHROOM2):c.1840G>A (p.Ala614Thr)not provided [RCV003440943]likely benignX98957489895748Humanname
401931158CV2823827single nucleotide variantNM_001649.4(SHROOM2):c.2558A>G (p.Asn853Ser)not provided [RCV003440945]|not specified [RCV004364634]likely benignX98964669896466Humanname
401931157CV2823828single nucleotide variantNM_001649.4(SHROOM2):c.2810G>A (p.Arg937Gln)not provided [RCV003440946]likely benignX98982099898209Humanname
401917848CV2827995single nucleotide variantNM_001172700.2(SHROOM1):c.504C>G (p.Pro168=)not provided [RCV003429766]likely benign5132825637132825637Humanname
401927040CV2828953single nucleotide variantNM_020717.5(SHROOM4):c.2441T>C (p.Met814Thr)not provided [RCV003438334]likely benign|uncertain significanceX5063363250633632Humanname
401927041CV2828954single nucleotide variantNM_020717.5(SHROOM4):c.1201C>T (p.His401Tyr)not provided [RCV003438335]likely benignX5063487250634872Humanname
401927043CV2828955single nucleotide variantNM_020717.5(SHROOM4):c.1145A>G (p.Asn382Ser)not provided [RCV003438336]likely benignX5063492850634928Humanname
401944945CV2840752single nucleotide variantNM_020717.5(SHROOM4):c.2137G>A (p.Glu713Lys)not provided [RCV003457600]uncertain significanceX5063393650633936Humanname
404993579CV2851009single nucleotide variantNM_020717.5(SHROOM4):c.1747C>T (p.Arg583Trp)not provided [RCV003491480]uncertain significanceX5063432650634326Humanname
404993619CV2851015single nucleotide variantNM_020717.5(SHROOM4):c.2906G>A (p.Gly969Glu)not provided [RCV003491486]uncertain significanceX5062766550627665Humanname
404993635CV2851017single nucleotide variantNM_020717.5(SHROOM4):c.1744C>T (p.Arg582Trp)not provided [RCV003491488]uncertain significanceX5063432950634329Humanname
405191078CV2988154single nucleotide variantNM_020717.5(SHROOM4):c.1738C>G (p.Gln580Glu)not provided [RCV003706467]uncertain significanceX5063433550634335Humanname
405733171CV3311249single nucleotide variantNM_001649.4(SHROOM2):c.2573C>T (p.Ala858Val)not specified [RCV004451291]uncertain significanceX98964819896481Humanname
405733177CV3311250single nucleotide variantNM_001649.4(SHROOM2):c.2611G>A (p.Gly871Ser)not specified [RCV004451292]uncertain significanceX98965199896519Humanname
405733191CV3311252single nucleotide variantNM_001649.4(SHROOM2):c.2833G>A (p.Glu945Lys)not specified [RCV004451294]uncertain significanceX98982329898232Humanname
405733197CV3311253single nucleotide variantNM_001649.4(SHROOM2):c.2911C>T (p.Arg971Trp)not specified [RCV004451295]likely benignX99321949932194Humanname
405733210CV3311254single nucleotide variantNM_001649.4(SHROOM2):c.2960C>T (p.Pro987Leu)not specified [RCV004451296]uncertain significanceX99322439932243Humanname
405733285CV3311265single nucleotide variantNM_020859.4(SHROOM3):c.1067T>C (p.Val356Ala)not specified [RCV004451307]likely benign47673924076739240Humanname
405733293CV3311266single nucleotide variantNM_020859.4(SHROOM3):c.1186C>T (p.Arg396Trp)not specified [RCV004451308]uncertain significance47673935976739359Humanname
405733319CV3311269single nucleotide variantNM_020859.4(SHROOM3):c.1240C>T (p.Arg414Trp)not specified [RCV004451311]uncertain significance47673941376739413Humanname
405733325CV3311270single nucleotide variantNM_020859.4(SHROOM3):c.1532T>C (p.Met511Thr)not specified [RCV004451312]uncertain significance47673970576739705Humanname
405733332CV3311271single nucleotide variantNM_020859.4(SHROOM3):c.2006C>T (p.Pro669Leu)not specified [RCV004451313]uncertain significance47674017976740179Humanname
405733348CV3311273single nucleotide variantNM_020859.4(SHROOM3):c.2243C>G (p.Pro748Arg)not specified [RCV004451315]uncertain significance47674041676740416Humanname
405733356CV3311274single nucleotide variantNM_020859.4(SHROOM3):c.2339C>T (p.Ser780Leu)not specified [RCV004451316]uncertain significance47674051276740512Humanname
405733363CV3311275single nucleotide variantNM_020859.4(SHROOM3):c.2468A>G (p.Asn823Ser)not specified [RCV004451317]uncertain significance47674064176740641Humanname
405733370CV3311276single nucleotide variantNM_020859.4(SHROOM3):c.2615C>G (p.Ser872Trp)not specified [RCV004451318]uncertain significance47674078876740788Humanname
405733378CV3311277single nucleotide variantNM_020859.4(SHROOM3):c.2647G>A (p.Ala883Thr)not specified [RCV004451319]uncertain significance47674082076740820Humanname
405733385CV3311278single nucleotide variantNM_020859.4(SHROOM3):c.2699G>A (p.Arg900Lys)not specified [RCV004451320]likely benign47674087276740872Humanname
405733392CV3311279single nucleotide variantNM_020859.4(SHROOM3):c.2797T>C (p.Ser933Pro)not specified [RCV004451321]uncertain significance47674097076740970Humanname
405733399CV3311280single nucleotide variantNM_020859.4(SHROOM3):c.2930C>T (p.Ala977Val)not specified [RCV004451322]uncertain significance47674110376741103Humanname
405748468CV3311305single nucleotide variantNM_020717.5(SHROOM4):c.1129T>C (p.Ser377Pro)not specified [RCV004453417]uncertain significanceX5063494450634944Humanname
405748475CV3311306single nucleotide variantNM_020717.5(SHROOM4):c.1394G>T (p.Gly465Val)not specified [RCV004453418]uncertain significanceX5063467950634679Humanname
405748482CV3311307single nucleotide variantNM_020717.5(SHROOM4):c.1402C>G (p.His468Asp)not specified [RCV004453419]uncertain significanceX5063467150634671Humanname
405748496CV3311309single nucleotide variantNM_020717.5(SHROOM4):c.1694G>A (p.Arg565Gln)not specified [RCV004453421]uncertain significanceX5063437950634379Humanname
405748503CV3311310single nucleotide variantNM_020717.5(SHROOM4):c.1752G>C (p.Lys584Asn)not specified [RCV004453422]uncertain significanceX5063432150634321Humanname
405748524CV3311313single nucleotide variantNM_020717.5(SHROOM4):c.2478G>A (p.Met826Ile)not specified [RCV004453425]uncertain significanceX5063359550633595Humanname
405748532CV3311314single nucleotide variantNM_020717.5(SHROOM4):c.2545C>A (p.Pro849Thr)not specified [RCV004453426]uncertain significanceX5063352850633528Humanname
405748540CV3311315single nucleotide variantNM_020717.5(SHROOM4):c.2629T>C (p.Cys877Arg)not specified [RCV004453427]uncertain significanceX5063344450633444Humanname
405748545CV3311316single nucleotide variantNM_020717.5(SHROOM4):c.2755C>T (p.Pro919Ser)not specified [RCV004453428]uncertain significanceX5063331850633318Humanname
405748552CV3311317single nucleotide variantNM_020717.5(SHROOM4):c.2779C>T (p.His927Tyr)not specified [RCV004453429]uncertain significanceX5063329450633294Humanname
405748568CV3311319single nucleotide variantNM_020717.5(SHROOM4):c.2878A>G (p.Arg960Gly)not specified [RCV004453431]uncertain significanceX5063319550633195Humanname
405733118CV3314699single nucleotide variantNM_001649.4(SHROOM2):c.1058C>T (p.Ala353Val)not specified [RCV004451284]uncertain significanceX98949669894966Humanname
405733126CV3314700single nucleotide variantNM_001649.4(SHROOM2):c.1061A>G (p.Gln354Arg)not specified [RCV004451285]likely benignX98949699894969Humanname
405733133CV3314701single nucleotide variantNM_001649.4(SHROOM2):c.1114T>C (p.Ser372Pro)not specified [RCV004451286]uncertain significanceX98950229895022Humanname
405733141CV3314702single nucleotide variantNM_001649.4(SHROOM2):c.1135G>A (p.Gly379Arg)not specified [RCV004451287]uncertain significanceX98950439895043Humanname
405733146CV3314703single nucleotide variantNM_001649.4(SHROOM2):c.1742C>T (p.Pro581Leu)not specified [RCV004451288]uncertain significanceX98956509895650Humanname
405733156CV3314704single nucleotide variantNM_001649.4(SHROOM2):c.1984C>T (p.Arg662Cys)not specified [RCV004451289]uncertain significanceX98958929895892Humanname
405733165CV3314705single nucleotide variantNM_001649.4(SHROOM2):c.2311G>A (p.Glu771Lys)not specified [RCV004451290]uncertain significanceX98962199896219Humanname
405872115CV3398238single nucleotide variantNM_020717.5(SHROOM4):c.2839G>A (p.Glu947Lys)not provided [RCV004575239]uncertain significanceX5063323450633234Humanname
407501136CV3480590single nucleotide variantNM_001172700.2(SHROOM1):c.29G>A (p.Arg10His)not specified [RCV004669726]uncertain significance5132826112132826112Humanname
407501154CV3480596single nucleotide variantNM_001649.4(SHROOM2):c.1275C>A (p.Ser425Arg)not specified [RCV004669730]uncertain significanceX98951839895183Humanname
407501160CV3480598single nucleotide variantNM_001649.4(SHROOM2):c.2869G>A (p.Glu957Lys)not specified [RCV004669731]likely benignX98982689898268Humanname
407519212CV3480599single nucleotide variantNM_001649.4(SHROOM2):c.1730G>T (p.Ser577Ile)not specified [RCV004676394]uncertain significanceX98956389895638Humanname
407501169CV3480601single nucleotide variantNM_001649.4(SHROOM2):c.1619A>G (p.Lys540Arg)not specified [RCV004669733]likely benignX98955279895527Humanname
407519216CV3480605single nucleotide variantNM_001649.4(SHROOM2):c.1000A>G (p.Lys334Glu)not specified [RCV004676396]uncertain significanceX98949089894908Humanname
407501184CV3480607single nucleotide variantNM_001649.4(SHROOM2):c.1685G>C (p.Ser562Thr)not specified [RCV004669736]uncertain significanceX98955939895593Humanname
407501193CV3480609single nucleotide variantNM_001649.4(SHROOM2):c.1693C>G (p.Leu565Val)not specified [RCV004669738]uncertain significanceX98956019895601Humanname
407501210CV3480612single nucleotide variantNM_020859.4(SHROOM3):c.1934A>G (p.Glu645Gly)not specified [RCV004669741]uncertain significance47674010776740107Humanname
407501213CV3480613single nucleotide variantNM_020859.4(SHROOM3):c.1935A>C (p.Glu645Asp)not specified [RCV004669742]uncertain significance47674010876740108Humanname
407501219CV3480614single nucleotide variantNM_020859.4(SHROOM3):c.1192C>T (p.Arg398Cys)not specified [RCV004669743]uncertain significance47673936576739365Humanname
407501346CV3480617single nucleotide variantNM_020859.4(SHROOM3):c.2650C>G (p.Arg884Gly)not specified [RCV004669746]uncertain significance47674082376740823Humanname
407501351CV3480618single nucleotide variantNM_020859.4(SHROOM3):c.2485A>G (p.Lys829Glu)not specified [RCV004669747]uncertain significance47674065876740658Humanname
407501369CV3480622single nucleotide variantNM_020859.4(SHROOM3):c.1100G>C (p.Ser367Thr)not specified [RCV004669751]uncertain significance47673927376739273Humanname
407501373CV3480623single nucleotide variantNM_020859.4(SHROOM3):c.2209A>T (p.Ser737Cys)not specified [RCV004669752]uncertain significance47674038276740382Humanname
407501397CV3480628single nucleotide variantNM_020859.4(SHROOM3):c.2086G>T (p.Ala696Ser)not specified [RCV004669757]uncertain significance47674025976740259Humanname
407519221CV3480632single nucleotide variantNM_020859.4(SHROOM3):c.2158G>A (p.Val720Ile)not specified [RCV004676398]uncertain significance47674033176740331Humanname
407501416CV3480633single nucleotide variantNM_020859.4(SHROOM3):c.2815A>G (p.Thr939Ala)not specified [RCV004669761]uncertain significance47674098876740988Humanname
407501439CV3480638single nucleotide variantNM_020717.5(SHROOM4):c.2354C>A (p.Ser785Tyr)not specified [RCV004669766]uncertain significanceX5063371950633719Humanname
407501450CV3480640single nucleotide variantNM_020717.5(SHROOM4):c.1699G>A (p.Gly567Ser)not specified [RCV004669768]uncertain significanceX5063437450634374Humanname
407501455CV3480641single nucleotide variantNM_020717.5(SHROOM4):c.1956G>T (p.Lys652Asn)not specified [RCV004669769]uncertain significanceX5063411750634117Humanname
407519223CV3480642single nucleotide variantNM_020717.5(SHROOM4):c.1449G>T (p.Arg483Ser)not specified [RCV004676399]uncertain significanceX5063462450634624Humanname
407519225CV3480645single nucleotide variantNM_020717.5(SHROOM4):c.2453G>T (p.Cys818Phe)not specified [RCV004676400]uncertain significanceX5063362050633620Humanname
596921749CV3535375single nucleotide variantNM_020717.5(SHROOM4):c.1298G>A (p.Gly433Glu)X-linked intellectual disability, Stocco dos Santos type [RCV004784930]uncertain significanceX5063477550634775Human1name
597719101CV3598892single nucleotide variantNM_001649.4(SHROOM2):c.2489G>A (p.Arg830Gln)not specified [RCV004861835]likely benignX98963979896397Humanname
597719142CV3598897single nucleotide variantNM_001649.4(SHROOM2):c.2702T>A (p.Ile901Asn)not specified [RCV004861840]uncertain significanceX98966109896610Humanname
597719151CV3598898single nucleotide variantNM_001649.4(SHROOM2):c.1121A>G (p.His374Arg)not specified [RCV004861841]likely benignX98950299895029Humanname
597719167CV3598900single nucleotide variantNM_001649.4(SHROOM2):c.1673C>T (p.Ala558Val)not specified [RCV004861843]likely benignX98955819895581Humanname
597719175CV3598901single nucleotide variantNM_001649.4(SHROOM2):c.1786C>T (p.Arg596Cys)not specified [RCV004861844]uncertain significanceX98956949895694Humanname
597719202CV3598904single nucleotide variantNM_001649.4(SHROOM2):c.1862G>A (p.Arg621Gln)not specified [RCV004861847]uncertain significanceX98957709895770Humanname
597719232CV3598908single nucleotide variantNM_001649.4(SHROOM2):c.2099G>A (p.Arg700His)not specified [RCV004861851]uncertain significanceX98960079896007Humanname
597719254CV3598911single nucleotide variantNM_001649.4(SHROOM2):c.1475C>T (p.Ala492Val)not specified [RCV004861854]uncertain significanceX98953839895383Humanname
597719277CV3598914single nucleotide variantNM_001649.4(SHROOM2):c.2486C>T (p.Pro829Leu)not specified [RCV004861857]uncertain significanceX98963949896394Humanname
597719313CV3598918single nucleotide variantNM_001649.4(SHROOM2):c.2324C>G (p.Thr775Arg)not specified [RCV004861861]uncertain significanceX98962329896232Humanname
597719330CV3598920single nucleotide variantNM_001649.4(SHROOM2):c.1426G>A (p.Gly476Ser)not specified [RCV004861863]likely benignX98953349895334Humanname
597719340CV3598921single nucleotide variantNM_001649.4(SHROOM2):c.1717G>C (p.Asp573His)not specified [RCV004861864]uncertain significanceX98956259895625Humanname
597719349CV3598922single nucleotide variantNM_001649.4(SHROOM2):c.1183G>A (p.Gly395Ser)not specified [RCV004861865]uncertain significanceX98950919895091Humanname
597719403CV3598928single nucleotide variantNM_001649.4(SHROOM2):c.1801A>G (p.Ser601Gly)not specified [RCV004861871]uncertain significanceX98957099895709Humanname
597719411CV3598929single nucleotide variantNM_001649.4(SHROOM2):c.2900A>T (p.Asp967Val)not specified [RCV004861872]uncertain significanceX99321839932183Humanname
597719419CV3598930single nucleotide variantNM_001649.4(SHROOM2):c.1028C>T (p.Ala343Val)not specified [RCV004861873]likely benignX98949369894936Humanname
597719516CV3598941single nucleotide variantNM_020859.4(SHROOM3):c.2942C>G (p.Thr981Arg)not specified [RCV004861884]uncertain significance47674111576741115Humanname
597719530CV3598943single nucleotide variantNM_020859.4(SHROOM3):c.2273G>A (p.Arg758Gln)not specified [RCV004861886]uncertain significance47674044676740446Humanname
597719584CV3598949single nucleotide variantNM_020859.4(SHROOM3):c.1291C>G (p.Gln431Glu)not specified [RCV004861892]uncertain significance47673946476739464Humanname
597719622CV3598953single nucleotide variantNM_020859.4(SHROOM3):c.2167C>A (p.Pro723Thr)not specified [RCV004861896]uncertain significance47674034076740340Humanname
597719666CV3598958single nucleotide variantNM_020859.4(SHROOM3):c.2605G>A (p.Gly869Arg)not specified [RCV004861901]likely benign47674077876740778Humanname
597719677CV3598959single nucleotide variantNM_020859.4(SHROOM3):c.2933C>T (p.Ser978Phe)not specified [RCV004861902]uncertain significance47674110676741106Humanname
597719686CV3598960single nucleotide variantNM_020859.4(SHROOM3):c.1469T>C (p.Met490Thr)not specified [RCV004861903]likely benign47673964276739642Humanname
597719695CV3598961single nucleotide variantNM_020859.4(SHROOM3):c.2246C>G (p.Ser749Trp)not specified [RCV004861904]uncertain significance47674041976740419Humanname
597719705CV3598962single nucleotide variantNM_020859.4(SHROOM3):c.2068G>C (p.Gly690Arg)not specified [RCV004861905]uncertain significance47674024176740241Humanname
597719774CV3598969single nucleotide variantNM_020859.4(SHROOM3):c.2272C>T (p.Arg758Trp)not specified [RCV004861912]uncertain significance47674044576740445Humanname
597719795CV3598971single nucleotide variantNM_020859.4(SHROOM3):c.1051C>T (p.Pro351Ser)not specified [RCV004861914]uncertain significance47673922476739224Humanname
597719814CV3598973single nucleotide variantNM_020859.4(SHROOM3):c.1698G>C (p.Glu566Asp)not specified [RCV004861916]uncertain significance47673987176739871Humanname
597719891CV3598981single nucleotide variantNM_020717.5(SHROOM4):c.1519A>G (p.Lys507Glu)not specified [RCV004861924]uncertain significanceX5063455450634554Humanname
597719899CV3598982single nucleotide variantNM_020717.5(SHROOM4):c.1765G>T (p.Ala589Ser)not specified [RCV004861925]uncertain significanceX5063430850634308Humanname
597719908CV3598983single nucleotide variantNM_020717.5(SHROOM4):c.1117T>A (p.Cys373Ser)not specified [RCV004861926]uncertain significanceX5063495650634956Humanname
597719917CV3598984single nucleotide variantNM_020717.5(SHROOM4):c.1777C>T (p.Arg593Cys)not specified [RCV004861927]uncertain significanceX5063429650634296Humanname
597719949CV3598987single nucleotide variantNM_020717.5(SHROOM4):c.1476A>C (p.Gln492His)not specified [RCV004861930]uncertain significanceX5063459750634597Humanname
597719960CV3598988single nucleotide variantNM_020717.5(SHROOM4):c.1160C>T (p.Ala387Val)not specified [RCV004861931]uncertain significanceX5063491350634913Humanname
597719968CV3598989single nucleotide variantNM_020717.5(SHROOM4):c.2485T>C (p.Ser829Pro)not specified [RCV004861932]uncertain significanceX5063358850633588Humanname
597719988CV3598991single nucleotide variantNM_020717.5(SHROOM4):c.1327C>T (p.His443Tyr)not specified [RCV004861934]uncertain significanceX5063474650634746Humanname
597720008CV3598993single nucleotide variantNM_020717.5(SHROOM4):c.2542T>G (p.Ser848Ala)not specified [RCV004861936]uncertain significanceX5063353150633531Humanname
597720049CV3598997single nucleotide variantNM_020717.5(SHROOM4):c.2323A>G (p.Lys775Glu)not specified [RCV004861940]uncertain significanceX5063375050633750Humanname
598223454CV3894005single nucleotide variantNM_020717.5(SHROOM4):c.2913A>C (p.Lys971Asn)not provided [RCV005257248]uncertain significanceX5062765850627658Humanname
598242278CV3914300single nucleotide variantNM_001649.4(SHROOM2):c.2602C>T (p.Arg868Trp)not specified [RCV005276498]uncertain significanceX98965109896510Humanname
598242313CV3914307single nucleotide variantNM_001649.4(SHROOM2):c.1846G>A (p.Val616Met)not specified [RCV005276505]uncertain significanceX98957549895754Humanname
598242318CV3914308single nucleotide variantNM_001649.4(SHROOM2):c.2680C>A (p.Arg894Ser)not specified [RCV005276506]uncertain significanceX98965889896588Humanname
598242324CV3914309single nucleotide variantNM_001649.4(SHROOM2):c.1033G>A (p.Ala345Thr)not specified [RCV005276507]likely benignX98949419894941Humanname
598242329CV3914310single nucleotide variantNM_001649.4(SHROOM2):c.1093C>T (p.Leu365Phe)not specified [RCV005276508]uncertain significanceX98950019895001Humanname
598242353CV3914315single nucleotide variantNM_001649.4(SHROOM2):c.2084C>T (p.Thr695Met)not specified [RCV005276513]uncertain significanceX98959929895992Humanname
598242359CV3914316single nucleotide variantNM_001649.4(SHROOM2):c.2858C>T (p.Ala953Val)not specified [RCV005276514]uncertain significanceX98982579898257Humanname
598242374CV3914319single nucleotide variantNM_020859.4(SHROOM3):c.2055G>C (p.Gln685His)not specified [RCV005276517]uncertain significance47674022876740228Humanname
598199342CV3914323single nucleotide variantNM_020859.4(SHROOM3):c.1699G>A (p.Glu567Lys)not specified [RCV005268380]uncertain significance47673987276739872Humanname
598242395CV3914324single nucleotide variantNM_020859.4(SHROOM3):c.1673A>G (p.His558Arg)not specified [RCV005276521]uncertain significance47673984676739846Humanname
598242423CV3914329single nucleotide variantNM_020859.4(SHROOM3):c.2626C>T (p.Arg876Cys)not specified [RCV005276526]uncertain significance47674079976740799Humanname
598242444CV3914333single nucleotide variantNM_020859.4(SHROOM3):c.2809G>C (p.Gly937Arg)not specified [RCV005276530]uncertain significance47674098276740982Humanname
598242450CV3914334single nucleotide variantNM_020859.4(SHROOM3):c.2791G>T (p.Ala931Ser)not specified [RCV005276531]uncertain significance47674096476740964Humanname
598242469CV3914338single nucleotide variantNM_020859.4(SHROOM3):c.2228A>G (p.Glu743Gly)not specified [RCV005276535]uncertain significance47674040176740401Humanname
598242474CV3914339single nucleotide variantNM_020859.4(SHROOM3):c.2633C>G (p.Pro878Arg)not specified [RCV005276536]uncertain significance47674080676740806Humanname
598242479CV3914341single nucleotide variantNM_020859.4(SHROOM3):c.2953C>T (p.Arg985Trp)not specified [RCV005276537]uncertain significance47674112676741126Humanname
598242491CV3914343single nucleotide variantNM_020859.4(SHROOM3):c.2117G>A (p.Arg706Lys)not specified [RCV005276539]uncertain significance47674029076740290Humanname
598242505CV3914346single nucleotide variantNM_020859.4(SHROOM3):c.2704C>G (p.Pro902Ala)not specified [RCV005276542]likely benign47674087776740877Humanname
598199357CV3914349single nucleotide variantNM_020859.4(SHROOM3):c.2303C>T (p.Ala768Val)not specified [RCV005268382]uncertain significance47674047676740476Humanname
598256492CV3914350single nucleotide variantNM_020859.4(SHROOM3):c.1741A>T (p.Asn581Tyr)not specified [RCV005279021]uncertain significance47673991476739914Humanname
598256502CV3914352single nucleotide variantNM_020717.5(SHROOM4):c.2983T>G (p.Phe995Val)not specified [RCV005279023]uncertain significanceX5060815950608159Humanname
598256516CV3914355single nucleotide variantNM_020717.5(SHROOM4):c.1135G>C (p.Val379Leu)not specified [RCV005279026]uncertain significanceX5063493850634938Humanname
598256521CV3914356single nucleotide variantNM_020717.5(SHROOM4):c.1619G>A (p.Cys540Tyr)not specified [RCV005279027]uncertain significanceX5063445450634454Humanname
598256526CV3914357single nucleotide variantNM_020717.5(SHROOM4):c.1543A>T (p.Thr515Ser)not specified [RCV005279028]uncertain significanceX5063453050634530Humanname
598256529CV3914358single nucleotide variantNM_020717.5(SHROOM4):c.1387C>T (p.Pro463Ser)not specified [RCV005279029]uncertain significanceX5063468650634686Humanname
598256534CV3914359single nucleotide variantNM_020717.5(SHROOM4):c.2683G>A (p.Ala895Thr)not specified [RCV005279030]uncertain significanceX5063339050633390Humanname
598256539CV3914360single nucleotide variantNM_020717.5(SHROOM4):c.1577A>G (p.Gln526Arg)not specified [RCV005279031]uncertain significanceX5063449650634496Humanname
598256564CV3914365single nucleotide variantNM_020717.5(SHROOM4):c.1027G>A (p.Glu343Lys)not specified [RCV005279036]uncertain significanceX5063504650635046Humanname
617150927CV4021978single nucleotide variantNM_020717.5(SHROOM4):c.1649C>T (p.Thr550Ile)not provided [RCV005426939]uncertain significanceX5063442450634424Humanname
13215378CV430827single nucleotide variantNM_020717.5(SHROOM4):c.2509T>C (p.Tyr837His)not specified [RCV000502436]uncertain significanceX5063356450633564Humanname
13216087CV430828single nucleotide variantNM_020717.5(SHROOM4):c.1675G>A (p.Glu559Lys)not provided [RCV000999434]|not specified [RCV000503302]likely benign|uncertain significanceX5063439850634398Humanname
13518513CV486485single nucleotide variantNM_020717.5(SHROOM4):c.2815C>T (p.His939Tyr)not provided [RCV000584871]uncertain significanceX5063325850633258Humanname
13518713CV486486single nucleotide variantNM_020717.5(SHROOM4):c.2773C>T (p.Arg925Trp)X-linked intellectual disability, Stocco dos Santos type [RCV002289883]|not provided [RCV000585042]uncertain significanceX5063330050633300Human1name
14695832CV622494single nucleotide variantNM_020717.5(SHROOM4):c.2672G>T (p.Ser891Ile)X-linked intellectual disability, Stocco dos Santos type [RCV000785007]uncertain significanceX5063340150633401Human1name
14697896CV623368single nucleotide variantNM_020717.5(SHROOM4):c.1996G>A (p.Glu666Lys)X-linked intellectual disability, Stocco dos Santos type [RCV000786918]uncertain significanceX5063407750634077Human1name
15159830CV709620single nucleotide variantNM_001172700.2(SHROOM1):c.963C>T (p.Thr321=)not provided [RCV000969782]benign5132825178132825178Humanname
15140292CV717824single nucleotide variantNM_020717.5(SHROOM4):c.2497G>A (p.Ala833Thr)not provided [RCV000966114]|not specified [RCV004029922]benignX5063357650633576Humanname
15187775CV721070single nucleotide variantNM_020859.4(SHROOM3):c.2153G>A (p.Arg718Gln)not provided [RCV000887346]|not specified [RCV001724188]benign|likely benign47674032676740326Humanname
15181048CV734715single nucleotide variantNM_020859.4(SHROOM3):c.1055G>A (p.Arg352Gln)not provided [RCV000907497]likely benign47673922876739228Humanname
21070722CV798331single nucleotide variantNM_020717.5(SHROOM4):c.2336A>G (p.Glu779Gly)not provided [RCV000999433]uncertain significanceX5063373750633737Humanname
21070727CV798332single nucleotide variantNM_020717.5(SHROOM4):c.1053C>A (p.Ser351Arg)not provided [RCV000999435]|not specified [RCV001819712]benign|likely benignX5063502050635020Humanname
8628755CV83899single nucleotide variantNM_001649.2(SHROOM2):c.1192C>T (p.Pro398Ser)Malignant melanoma [RCV000063980]not providedX98951009895100Humanname
8628756CV83900single nucleotide variantNM_001649.2(SHROOM2):c.1193C>T (p.Pro398Leu)Malignant melanoma [RCV000063981]not providedX98951019895101Humanname
28887056CV860898single nucleotide variantNM_020717.5(SHROOM4):c.1229A>G (p.His410Arg)not provided [RCV001091933]uncertain significanceX5063484450634844Humanname
38459526CV920039single nucleotide variantNM_020717.5(SHROOM4):c.2362C>T (p.His788Tyr)X-linked intellectual disability, Stocco dos Santos type [RCV001195911]uncertain significanceX5063371150633711Human1name
38597522CV963985single nucleotide variantNM_020717.5(SHROOM4):c.2335G>A (p.Glu779Lys)Intellectual disability [RCV001251640]uncertain significanceX5063373850633738Human2name
40815366CV971214single nucleotide variantNM_020717.5(SHROOM4):c.2798G>A (p.Arg933Gln)X-linked intellectual disability, Stocco dos Santos type [RCV001262700]likely benignX5063327550633275Human1name
42723679CV984626single nucleotide variantNM_020717.5(SHROOM4):c.1165G>T (p.Ala389Ser)X-linked intellectual disability, Stocco dos Santos type [RCV001291669]uncertain significanceX5063490850634908Human1name
126734501CV999839single nucleotide variantNM_020717.5(SHROOM4):c.1096G>A (p.Ala366Thr)not provided [RCV001304450]uncertain significanceX5063497750634977Humanname
8642886CV101870single nucleotide variantNM_020717.5(SHROOM4):c.4101G>T (p.Leu1367Phe)not provided [RCV000224335]|not specified [RCV000082028]benignX5059837750598377Humanname
126747363CV1019008single nucleotide variantNM_020717.5(SHROOM4):c.4322G>A (p.Arg1441His)X-linked intellectual disability, Stocco dos Santos type [RCV001331133]uncertain significanceX5059685550596855Human1name
126742436CV1022178single nucleotide variantNM_020717.5(SHROOM4):c.3541G>C (p.Glu1181Gln)X-linked intellectual disability, Stocco dos Santos type [RCV001336506]uncertain significanceX5060760150607601Human1name
150547489CV1292045single nucleotide variantNM_020859.4(SHROOM3):c.4204G>T (p.Gly1402Cys)not specified [RCV001733711]uncertain significance47675468776754687Humanname
151349892CV1325487single nucleotide variantNM_020717.5(SHROOM4):c.3207C>A (p.Ser1069Arg)not provided [RCV001814773]uncertain significanceX5060793550607935Humanname
151355960CV1327143single nucleotide variantNM_020717.5(SHROOM4):c.3533A>G (p.Glu1178Gly)not specified [RCV001822313]likely benignX5060760950607609Humanname
8660687CV135757single nucleotide variantNM_020717.5(SHROOM4):c.3611A>G (p.Glu1204Gly)Intellectual disability [RCV001251639]|not provided [RCV000118348]|not specified [RCV004019649]benign|uncertain significanceX5060753150607531Human2name
8660688CV135758single nucleotide variantNM_020717.5(SHROOM4):c.3734C>T (p.Ser1245Leu)not provided [RCV004713297]|not specified [RCV000118349]benign|likely benign|conflicting interpretations of pathogenicityX5060740850607408Humanname
8660689CV135759single nucleotide variantNM_020717.5(SHROOM4):c.3944T>C (p.Ile1315Thr)Intellectual disability [RCV001251638]|See cases [RCV002251986]|not provided [RCV000118350]|not specified [RCV004019650]likely benign|conflicting interpretations of pathogenicity|uncertain significanceX5059853450598534Human2name
153305616CV1687727single nucleotide variantNM_020717.5(SHROOM4):c.4439A>G (p.Lys1480Arg)not provided [RCV002263548]uncertain significanceX5059673850596738Humanname
155265090CV1695469single nucleotide variantNM_001649.4(SHROOM2):c.3811G>C (p.Glu1271Gln)not provided [RCV002280032]uncertain significanceX99373579937357Humanname
155265337CV1695530single nucleotide variantNM_001649.4(SHROOM2):c.4769G>A (p.Arg1590Gln)not provided [RCV002280262]|not specified [RCV004857895]uncertain significanceX99468559946855Humanname
155265387CV1704768single nucleotide variantNM_020717.5(SHROOM4):c.3919G>A (p.Asp1307Asn)X-linked intellectual disability, Stocco dos Santos type [RCV002284994]|not specified [RCV004047581]pathogenic|uncertain significanceX5060265650602656Human1name
9693343CV177182single nucleotide variantNM_020717.5(SHROOM4):c.3211C>T (p.Arg1071Trp)not provided [RCV000153950]uncertain significanceX5060793150607931Humanname
155663869CV1785835single nucleotide variantNM_020717.5(SHROOM4):c.3385A>C (p.Lys1129Gln)not specified [RCV004047880]benignX5060775750607757Humanname
10408330CV209086single nucleotide variantNM_020717.5(SHROOM4):c.3140C>G (p.Ala1047Gly)not specified [RCV000193242]uncertain significanceX5060800250608002Humanname
156321172CV2197519single nucleotide variantNM_020859.4(SHROOM3):c.4484G>A (p.Arg1495Gln)not specified [RCV004081243]likely benign47675496776754967Humanname
155980993CV2212118single nucleotide variantNM_001172700.2(SHROOM1):c.271G>A (p.Ala91Thr)not specified [RCV004089020]uncertain significance5132825870132825870Humanname
156380258CV2218087single nucleotide variantNM_020859.4(SHROOM3):c.3584G>A (p.Gly1195Glu)not specified [RCV004086522]uncertain significance47674175776741757Humanname
156224146CV2219280single nucleotide variantNM_020859.4(SHROOM3):c.4247C>T (p.Thr1416Met)not specified [RCV004095156]likely benign47675473076754730Humanname
156276306CV2230474single nucleotide variantNM_020859.4(SHROOM3):c.4219G>A (p.Gly1407Ser)not specified [RCV004097450]likely benign47675470276754702Humanname
156296468CV2236566single nucleotide variantNM_020717.5(SHROOM4):c.4352A>G (p.Tyr1451Cys)not specified [RCV004110559]uncertain significanceX5059682550596825Humanname
156043750CV2237539single nucleotide variantNM_020859.4(SHROOM3):c.3470C>T (p.Pro1157Leu)not specified [RCV004106481]uncertain significance47674164376741643Humanname
156200184CV2237673single nucleotide variantNM_001649.4(SHROOM2):c.3176G>A (p.Arg1059Lys)not specified [RCV004106598]uncertain significanceX99324599932459Humanname
155921970CV2240610single nucleotide variantNM_020859.4(SHROOM3):c.3209C>T (p.Thr1070Met)not specified [RCV004119254]uncertain significance47674138276741382Humanname
156267384CV2243982single nucleotide variantNM_001649.4(SHROOM2):c.4366G>A (p.Glu1456Lys)not specified [RCV004108480]uncertain significanceX99446959944695Humanname
155924751CV2248857single nucleotide variantNM_001649.4(SHROOM2):c.3573T>A (p.Asp1191Glu)not specified [RCV004115869]uncertain significanceX99328569932856Humanname
156085875CV2249364single nucleotide variantNM_001649.4(SHROOM2):c.3808C>T (p.Pro1270Ser)not specified [RCV004118376]uncertain significanceX99373549937354Humanname
156315730CV2250813single nucleotide variantNM_001649.4(SHROOM2):c.3266T>A (p.Val1089Asp)not specified [RCV004129673]uncertain significanceX99325499932549Humanname
156360592CV2269068single nucleotide variantNM_001172700.2(SHROOM1):c.292A>G (p.Thr98Ala)not specified [RCV004130249]uncertain significance5132825849132825849Humanname
11059999CV226993single nucleotide variantNM_020717.5(SHROOM4):c.3998G>A (p.Arg1333Gln)not specified [RCV004822017]likely benign|uncertain significanceX5059848050598480Humanname
156332933CV2270434single nucleotide variantNM_020859.4(SHROOM3):c.5884C>A (p.Pro1962Thr)not specified [RCV004137404]uncertain significance47677907076779070Humanname
156253395CV2284049single nucleotide variantNM_001649.4(SHROOM2):c.3478C>G (p.Arg1160Gly)not specified [RCV004144655]uncertain significanceX99327619932761Humanname
156237966CV2285845single nucleotide variantNM_001649.4(SHROOM2):c.3661C>A (p.Pro1221Thr)not specified [RCV004143788]uncertain significanceX99372079937207Humanname
156345069CV2290915single nucleotide variantNM_020859.4(SHROOM3):c.4777G>A (p.Gly1593Ser)not specified [RCV004151478]uncertain significance47675651676756516Humanname
156017231CV2295537single nucleotide variantNM_001649.4(SHROOM2):c.3571G>A (p.Asp1191Asn)not specified [RCV004160637]uncertain significanceX99328549932854Humanname
156072467CV2295966single nucleotide variantNM_001172700.2(SHROOM1):c.269C>T (p.Ala90Val)not specified [RCV004151858]uncertain significance5132825872132825872Humanname
156296449CV2297575single nucleotide variantNM_001649.4(SHROOM2):c.3322C>T (p.Arg1108Cys)not specified [RCV004155278]uncertain significanceX99326059932605Humanname
156148232CV2307329single nucleotide variantNM_020859.4(SHROOM3):c.5470G>A (p.Glu1824Lys)not specified [RCV004166017]uncertain significance47677074676770746Humanname
156351846CV2323846single nucleotide variantNM_001172700.2(SHROOM1):c.275G>C (p.Arg92Pro)not specified [RCV004176379]uncertain significance5132825866132825866Humanname
156284243CV2334747single nucleotide variantNM_020717.5(SHROOM4):c.3308G>A (p.Arg1103His)not specified [RCV004188725]uncertain significanceX5060783450607834Humanname
155978899CV2335226single nucleotide variantNM_020859.4(SHROOM3):c.4390C>T (p.Pro1464Ser)not specified [RCV004186796]uncertain significance47675487376754873Humanname
156291294CV2342863single nucleotide variantNM_020717.5(SHROOM4):c.4282G>A (p.Val1428Met)not specified [RCV004189898]uncertain significanceX5059689550596895Humanname
156242127CV2346974single nucleotide variantNM_001649.4(SHROOM2):c.3065C>T (p.Ser1022Leu)not specified [RCV004202419]uncertain significanceX99323489932348Humanname
155905480CV2349774single nucleotide variantNM_001649.4(SHROOM2):c.3050G>A (p.Arg1017Gln)not specified [RCV004204186]uncertain significanceX99323339932333Humanname
156346336CV2353510single nucleotide variantNM_020859.4(SHROOM3):c.4382A>G (p.Gln1461Arg)not specified [RCV004199495]uncertain significance47675486576754865Humanname
156141730CV2358433single nucleotide variantNM_020717.5(SHROOM4):c.3758C>T (p.Ala1253Val)not specified [RCV004207326]uncertain significanceX5060738450607384Humanname
156284758CV2360693single nucleotide variantNM_020859.4(SHROOM3):c.4601C>T (p.Pro1534Leu)not specified [RCV004213486]likely benign47675508476755084Humanname
156383264CV2361473single nucleotide variantNM_020859.4(SHROOM3):c.5648T>C (p.Ile1883Thr)not specified [RCV004221113]uncertain significance47677883476778834Humanname
11350818CV237189single nucleotide variantNM_020717.5(SHROOM4):c.3147G>A (p.Met1049Ile)History of neurodevelopmental disorder [RCV000720941]|not provided [RCV000224464]benignX5060799550607995Humanname
155992357CV2379303single nucleotide variantNM_001649.4(SHROOM2):c.4411G>A (p.Glu1471Lys)not specified [RCV004223770]uncertain significanceX99447409944740Humanname
156061870CV2380297single nucleotide variantNM_020859.4(SHROOM3):c.3559G>C (p.Asp1187His)not specified [RCV004224647]uncertain significance47674173276741732Humanname
156134392CV2383143single nucleotide variantNM_020859.4(SHROOM3):c.3686C>G (p.Ser1229Trp)not specified [RCV004219758]uncertain significance47674185976741859Humanname
156348334CV2384936single nucleotide variantNM_020859.4(SHROOM3):c.3253G>A (p.Ala1085Thr)not specified [RCV004226173]uncertain significance47674142676741426Humanname
155940094CV2386714single nucleotide variantNM_020717.5(SHROOM4):c.3277G>A (p.Gly1093Arg)not specified [RCV004233408]uncertain significanceX5060786550607865Humanname
156267360CV2389295single nucleotide variantNM_020859.4(SHROOM3):c.4433C>T (p.Ala1478Val)not specified [RCV004235609]uncertain significance47675491676754916Humanname
155927803CV2391536single nucleotide variantNM_020859.4(SHROOM3):c.4850T>C (p.Phe1617Ser)not specified [RCV004239921]uncertain significance47675658976756589Humanname
155958784CV2395257single nucleotide variantNM_020859.4(SHROOM3):c.4562C>G (p.Pro1521Arg)not specified [RCV004238966]uncertain significance47675504576755045Humanname
156255165CV2397622single nucleotide variantNM_020717.5(SHROOM4):c.3442G>A (p.Glu1148Lys)not specified [RCV004237075]uncertain significanceX5060770050607700Humanname
156451073CV2402450single nucleotide variantNM_001649.4(SHROOM2):c.4121C>T (p.Pro1374Leu)not provided [RCV003123251]uncertain significanceX99376679937667Humanname
243050710CV2415561single nucleotide variantNM_020717.5(SHROOM4):c.3166C>T (p.Arg1056Cys)X-linked intellectual disability, Stocco dos Santos type [RCV003148159]uncertain significanceX5060797650607976Human1name
329370868CV2435711single nucleotide variantNM_001649.4(SHROOM2):c.3209G>A (p.Arg1070His)not specified [RCV004254943]uncertain significanceX99324929932492Humanname
329353720CV2439585single nucleotide variantNM_001649.4(SHROOM2):c.3025C>T (p.Arg1009Trp)not specified [RCV004255605]uncertain significanceX99323089932308Humanname
329365918CV2441232single nucleotide variantNM_001649.4(SHROOM2):c.4105C>A (p.Pro1369Thr)not specified [RCV004263621]uncertain significanceX99376519937651Humanname
329400436CV2441665single nucleotide variantNM_020859.4(SHROOM3):c.4412A>C (p.Asp1471Ala)not specified [RCV004259484]uncertain significance47675489576754895Humanname
329372586CV2443179single nucleotide variantNM_001649.4(SHROOM2):c.4294G>A (p.Asp1432Asn)not specified [RCV004255372]uncertain significanceX99393499939349Humanname
329352219CV2452149single nucleotide variantNM_020717.5(SHROOM4):c.4310G>A (p.Gly1437Asp)not specified [RCV004278863]uncertain significanceX5059686750596867Humanname
329372499CV2455241single nucleotide variantNM_020717.5(SHROOM4):c.3832A>G (p.Asn1278Asp)not specified [RCV004274460]uncertain significanceX5060274350602743Humanname
329401789CV2457420single nucleotide variantNM_020859.4(SHROOM3):c.5807G>A (p.Arg1936Gln)not specified [RCV004267246]uncertain significance47677899376778993Humanname
329394708CV2461541single nucleotide variantNM_001649.4(SHROOM2):c.3172A>G (p.Lys1058Glu)not specified [RCV004269458]uncertain significanceX99324559932455Humanname
329394273CV2469787single nucleotide variantNM_020717.5(SHROOM4):c.3939A>T (p.Lys1313Asn)not specified [RCV004285285]uncertain significanceX5060263650602636Humanname
329352813CV2470559single nucleotide variantNM_001649.4(SHROOM2):c.4019T>C (p.Ile1340Thr)not specified [RCV004273563]uncertain significanceX99375659937565Humanname
329376614CV2472268single nucleotide variantNM_001649.4(SHROOM2):c.3464A>T (p.Lys1155Met)not specified [RCV004283374]uncertain significanceX99327479932747Humanname
8561917CV25834single nucleotide variantNM_020717.5(SHROOM4):c.3266C>T (p.Ser1089Leu)X-linked intellectual disability, Stocco dos Santos type [RCV000011542]pathogenic|uncertain significanceX5060787650607876Human1name
11633065CV265033single nucleotide variantNM_020717.5(SHROOM4):c.3739C>T (p.Gln1247Ter)not provided [RCV000308203]pathogenic|uncertain significance|no classifications from unflagged recordsX5060740350607403Humanname
401731493CV2674392single nucleotide variantNM_001649.4(SHROOM2):c.3401G>A (p.Arg1134His)not specified [RCV004289262]uncertain significanceX99326849932684Humanname
401743363CV2674643single nucleotide variantNM_020859.4(SHROOM3):c.4616C>T (p.Pro1539Leu)not specified [RCV004293939]likely benign47675509976755099Humanname
401741542CV2677382single nucleotide variantNM_001649.4(SHROOM2):c.3421G>A (p.Gly1141Arg)not specified [RCV004289463]uncertain significanceX99327049932704Humanname
401746948CV2678968single nucleotide variantNM_020859.4(SHROOM3):c.4775T>C (p.Val1592Ala)not specified [RCV004294981]uncertain significance47675651476756514Humanname
401719084CV2679412single nucleotide variantNM_001649.4(SHROOM2):c.3880C>T (p.Arg1294Cys)not specified [RCV004285939]uncertain significanceX99374269937426Humanname
401727286CV2684551single nucleotide variantNM_001649.4(SHROOM2):c.3966G>C (p.Glu1322Asp)not specified [RCV004293662]uncertain significanceX99375129937512Humanname
401782286CV2686655single nucleotide variantNM_001649.4(SHROOM2):c.3533C>G (p.Pro1178Arg)not specified [RCV004300068]uncertain significanceX99328169932816Humanname
401731990CV2690247single nucleotide variantNM_020859.4(SHROOM3):c.5921C>T (p.Thr1974Met)not specified [RCV004302252]uncertain significance47677910776779107Humanname
401749436CV2694648single nucleotide variantNM_020859.4(SHROOM3):c.3913A>G (p.Lys1305Glu)not specified [RCV004298759]uncertain significance47675439676754396Humanname
401741507CV2697564single nucleotide variantNM_001649.4(SHROOM2):c.3238G>A (p.Gly1080Ser)not specified [RCV004298320]likely benignX99325219932521Humanname
401721552CV2710024single nucleotide variantNM_020717.5(SHROOM4):c.4109G>A (p.Gly1370Glu)not specified [RCV004315086]uncertain significanceX5059836950598369Humanname
401730723CV2711463single nucleotide variantNM_020859.4(SHROOM3):c.4199C>T (p.Pro1400Leu)not specified [RCV004306786]uncertain significance47675468276754682Humanname
401753860CV2719091single nucleotide variantNM_020859.4(SHROOM3):c.5713G>T (p.Val1905Leu)not specified [RCV004322976]uncertain significance47677889976778899Humanname
401729647CV2733211single nucleotide variantNM_001649.4(SHROOM2):c.4576G>A (p.Gly1526Ser)not specified [RCV004332129]uncertain significanceX99449059944905Humanname
401856011CV2754214single nucleotide variantNM_020859.4(SHROOM3):c.3508C>T (p.Arg1170Cys)not specified [RCV004334403]uncertain significance47674168176741681Humanname
401879308CV2758267single nucleotide variantNM_001649.4(SHROOM2):c.4168G>A (p.Val1390Met)not specified [RCV004341625]uncertain significanceX99392239939223Humanname
401865191CV2768701single nucleotide variantNM_020859.4(SHROOM3):c.4708A>G (p.Ser1570Gly)not specified [RCV004344546]uncertain significance47675519176755191Humanname
401874531CV2774019single nucleotide variantNM_020859.4(SHROOM3):c.3698C>T (p.Ala1233Val)not specified [RCV004358425]uncertain significance47674187176741871Humanname
401892025CV2775890single nucleotide variantNM_020859.4(SHROOM3):c.4417G>A (p.Asp1473Asn)not specified [RCV004344921]uncertain significance47675490076754900Humanname
401863343CV2776773single nucleotide variantNM_020859.4(SHROOM3):c.5603A>G (p.Asp1868Gly)not specified [RCV004357922]uncertain significance47677087976770879Humanname
401876230CV2777716single nucleotide variantNM_001649.4(SHROOM2):c.3529G>A (p.Ala1177Thr)not specified [RCV004345552]uncertain significanceX99328129932812Humanname
401890723CV2778315single nucleotide variantNM_001649.4(SHROOM2):c.3380C>T (p.Pro1127Leu)not specified [RCV004350368]uncertain significanceX99326639932663Humanname
401890498CV2778802single nucleotide variantNM_020859.4(SHROOM3):c.3571G>A (p.Gly1191Arg)not specified [RCV004346702]uncertain significance47674174476741744Humanname
401897519CV2787125single nucleotide variantNM_001649.4(SHROOM2):c.3537G>C (p.Gln1179His)not specified [RCV004360559]uncertain significanceX99328209932820Humanname
401875360CV2789029single nucleotide variantNM_001649.4(SHROOM2):c.3553C>A (p.Pro1185Thr)not specified [RCV004363335]uncertain significanceX99328369932836Humanname
401928212CV2822597single nucleotide variantNM_020859.4(SHROOM3):c.3812C>G (p.Ala1271Gly)not provided [RCV003439355]uncertain significance47674907576749075Humanname
401928214CV2822598single nucleotide variantNM_020859.4(SHROOM3):c.4192C>T (p.Pro1398Ser)not provided [RCV003439356]likely benign47675467576754675Humanname
401917847CV2827994single nucleotide variantNM_001172700.2(SHROOM1):c.1083C>T (p.Pro361=)not provided [RCV003429765]likely benign5132824773132824773Humanname
401927034CV2828949single nucleotide variantNM_020717.5(SHROOM4):c.4030G>T (p.Ala1344Ser)not provided [RCV003438330]uncertain significanceX5059844850598448Humanname
401927036CV2828950single nucleotide variantNM_020717.5(SHROOM4):c.3774G>T (p.Gln1258His)not provided [RCV003438331]likely benignX5060280150602801Humanname
405867074CV2842589single nucleotide variantNM_020859.4(SHROOM3):c.3385G>A (p.Glu1129Lys)EBV-positive nodal T- and NK-cell lymphoma [RCV004557946]likely benign47674155876741558Humanname
404993569CV2851008single nucleotide variantNM_001649.4(SHROOM2):c.4718C>T (p.Ala1573Val)not provided [RCV003491479]uncertain significanceX99468049946804Humanname
404993596CV2851011single nucleotide variantNM_020717.5(SHROOM4):c.3317C>T (p.Pro1106Leu)not provided [RCV003491482]uncertain significanceX5060782550607825Humanname
404993603CV2851012single nucleotide variantNM_020717.5(SHROOM4):c.3160C>T (p.Arg1054Cys)not provided [RCV003491483]uncertain significanceX5060798250607982Humanname
404993609CV2851013single nucleotide variantNM_020717.5(SHROOM4):c.3044A>G (p.Tyr1015Cys)not provided [RCV003491484]uncertain significanceX5060809850608098Humanname
404993613CV2851014single nucleotide variantNM_020717.5(SHROOM4):c.4201A>C (p.Asn1401His)not provided [RCV003491485]uncertain significanceX5059827750598277Humanname
404993627CV2851016single nucleotide variantNM_020717.5(SHROOM4):c.3370C>G (p.Gln1124Glu)not provided [RCV003491487]uncertain significanceX5060777250607772Humanname
405733217CV3311255single nucleotide variantNM_001649.4(SHROOM2):c.3125A>G (p.His1042Arg)not specified [RCV004451297]uncertain significanceX99324089932408Humanname
405733225CV3311256single nucleotide variantNM_001649.4(SHROOM2):c.3604G>A (p.Asp1202Asn)not specified [RCV004451298]uncertain significanceX99371509937150Humanname
405733239CV3311258single nucleotide variantNM_001649.4(SHROOM2):c.3752G>A (p.Ser1251Asn)not specified [RCV004451300]uncertain significanceX99372989937298Humanname
405733246CV3311259single nucleotide variantNM_001649.4(SHROOM2):c.4355G>A (p.Arg1452Gln)not specified [RCV004451301]uncertain significanceX99446849944684Humanname
405733253CV3311260single nucleotide variantNM_001649.4(SHROOM2):c.4746G>T (p.Lys1582Asn)not specified [RCV004451302]uncertain significanceX99468329946832Humanname
405733405CV3311281single nucleotide variantNM_020859.4(SHROOM3):c.3004G>A (p.Ala1002Thr)not specified [RCV004451323]uncertain significance47674117776741177Humanname
405733415CV3311282single nucleotide variantNM_020859.4(SHROOM3):c.3121G>T (p.Gly1041Cys)not specified [RCV004451324]uncertain significance47674129476741294Humanname
405733422CV3311283single nucleotide variantNM_020859.4(SHROOM3):c.3134A>G (p.Asn1045Ser)not specified [RCV004451325]uncertain significance47674130776741307Humanname
405733429CV3311284single nucleotide variantNM_020859.4(SHROOM3):c.3136G>A (p.Gly1046Arg)not specified [RCV004451326]uncertain significance47674130976741309Humanname
405748334CV3311285single nucleotide variantNM_020859.4(SHROOM3):c.3188G>C (p.Arg1063Pro)not specified [RCV004453397]uncertain significance47674136176741361Humanname
405748347CV3311287single nucleotide variantNM_020859.4(SHROOM3):c.3340G>A (p.Glu1114Lys)not specified [RCV004453399]uncertain significance47674151376741513Humanname
405748354CV3311288single nucleotide variantNM_020859.4(SHROOM3):c.3361C>T (p.Leu1121Phe)not specified [RCV004453400]uncertain significance47674153476741534Humanname
405748361CV3311289single nucleotide variantNM_020859.4(SHROOM3):c.3953G>T (p.Gly1318Val)not specified [RCV004453401]uncertain significance47675443676754436Humanname
405748373CV3311291single nucleotide variantNM_020859.4(SHROOM3):c.4216G>A (p.Asp1406Asn)not specified [RCV004453403]likely benign47675469976754699Humanname
405748380CV3311292single nucleotide variantNM_020859.4(SHROOM3):c.4353T>A (p.Phe1451Leu)not specified [RCV004453404]uncertain significance47675483676754836Humanname
405748394CV3311294single nucleotide variantNM_020859.4(SHROOM3):c.4387C>G (p.Leu1463Val)not specified [RCV004453406]uncertain significance47675487076754870Humanname
405748401CV3311295single nucleotide variantNM_020859.4(SHROOM3):c.4438A>G (p.Ser1480Gly)not specified [RCV004453407]uncertain significance47675492176754921Humanname
405748408CV3311296single nucleotide variantNM_020859.4(SHROOM3):c.4468T>C (p.Ser1490Pro)not specified [RCV004453408]uncertain significance47675495176754951Humanname
405748416CV3311297single nucleotide variantNM_020859.4(SHROOM3):c.5011T>G (p.Leu1671Val)not specified [RCV004453409]uncertain significance47675675076756750Humanname
405748424CV3311298single nucleotide variantNM_020859.4(SHROOM3):c.5111C>A (p.Pro1704His)not specified [RCV004453410]uncertain significance47675685076756850Humanname
405748431CV3311299single nucleotide variantNM_020859.4(SHROOM3):c.5186G>A (p.Cys1729Tyr)not specified [RCV004453411]uncertain significance47675692576756925Humanname
405748435CV3311300single nucleotide variantNM_020859.4(SHROOM3):c.5417C>T (p.Thr1806Met)not specified [RCV004453412]likely benign47677069376770693Humanname
405748444CV3311301single nucleotide variantNM_020859.4(SHROOM3):c.5619A>T (p.Glu1873Asp)not specified [RCV004453413]uncertain significance47677089576770895Humanname
405748450CV3311302single nucleotide variantNM_020859.4(SHROOM3):c.5675G>A (p.Arg1892Gln)not specified [RCV004453414]uncertain significance47677886176778861Humanname
405748456CV3311303single nucleotide variantNM_020859.4(SHROOM3):c.5936C>T (p.Pro1979Leu)not specified [RCV004453415]uncertain significance47677912276779122Humanname
405748461CV3311304single nucleotide variantNM_020859.4(SHROOM3):c.5950A>G (p.Thr1984Ala)not specified [RCV004453416]uncertain significance47677913676779136Humanname
405748574CV3311320single nucleotide variantNM_020717.5(SHROOM4):c.3237G>C (p.Glu1079Asp)not specified [RCV004453432]uncertain significanceX5060790550607905Humanname
405748582CV3311321single nucleotide variantNM_020717.5(SHROOM4):c.3601G>A (p.Val1201Ile)not specified [RCV004453433]uncertain significanceX5060754150607541Humanname
405866629CV3401034single nucleotide variantNM_020717.5(SHROOM4):c.4388T>C (p.Ile1463Thr)X-linked intellectual disability, Stocco dos Santos type [RCV004577150]uncertain significanceX5059678950596789Human1name
407519208CV3480592single nucleotide variantNM_001172700.2(SHROOM1):c.163C>T (p.Leu55Phe)not specified [RCV004676391]uncertain significance5132825978132825978Humanname
407501164CV3480600single nucleotide variantNM_001649.4(SHROOM2):c.4184A>G (p.Asn1395Ser)not specified [RCV004669732]uncertain significanceX99392399939239Humanname
407519214CV3480602single nucleotide variantNM_001649.4(SHROOM2):c.3847C>A (p.Pro1283Thr)not specified [RCV004676395]uncertain significanceX99373939937393Humanname
407501173CV3480603single nucleotide variantNM_001649.4(SHROOM2):c.3038G>A (p.Gly1013Glu)not specified [RCV004669734]uncertain significanceX99323219932321Humanname
407519218CV3480606single nucleotide variantNM_001649.4(SHROOM2):c.4118C>A (p.Ser1373Tyr)not specified [RCV004676397]uncertain significanceX99376649937664Humanname
407501188CV3480608single nucleotide variantNM_001649.4(SHROOM2):c.3062A>C (p.Tyr1021Ser)not specified [RCV004669737]uncertain significanceX99323459932345Humanname
407501198CV3480610single nucleotide variantNM_001649.4(SHROOM2):c.4109A>G (p.Lys1370Arg)not specified [RCV004669739]uncertain significanceX99376559937655Humanname
407501204CV3480611single nucleotide variantNM_020859.4(SHROOM3):c.3355G>A (p.Ala1119Thr)not specified [RCV004669740]uncertain significance47674152876741528Humanname
407501355CV3480619single nucleotide variantNM_020859.4(SHROOM3):c.4234G>T (p.Val1412Leu)not specified [RCV004669748]uncertain significance47675471776754717Humanname
407501360CV3480620single nucleotide variantNM_020859.4(SHROOM3):c.5375A>G (p.His1792Arg)not specified [RCV004669749]uncertain significance47677065176770651Humanname
407501364CV3480621single nucleotide variantNM_020859.4(SHROOM3):c.3127C>G (p.Gln1043Glu)not specified [RCV004669750]uncertain significance47674130076741300Humanname
407501378CV3480624single nucleotide variantNM_020859.4(SHROOM3):c.3988C>A (p.Pro1330Thr)not specified [RCV004669753]uncertain significance47675447176754471Humanname
407501384CV3480625single nucleotide variantNM_020859.4(SHROOM3):c.3883C>G (p.Leu1295Val)not specified [RCV004669754]uncertain significance47675436676754366Humanname
407501402CV3480629single nucleotide variantNM_020859.4(SHROOM3):c.3400G>A (p.Ala1134Thr)not specified [RCV004669758]likely benign47674157376741573Humanname
407501406CV3480630single nucleotide variantNM_020859.4(SHROOM3):c.3401C>A (p.Ala1134Asp)not specified [RCV004669759]uncertain significance47674157476741574Humanname
407501411CV3480631single nucleotide variantNM_020859.4(SHROOM3):c.4388T>A (p.Leu1463His)not specified [RCV004669760]uncertain significance47675487176754871Humanname
407501422CV3480634single nucleotide variantNM_020859.4(SHROOM3):c.5935C>T (p.Pro1979Ser)not specified [RCV004669762]uncertain significance47677912176779121Humanname
407501426CV3480635single nucleotide variantNM_020859.4(SHROOM3):c.3635G>C (p.Trp1212Ser)not specified [RCV004669763]uncertain significance47674180876741808Humanname
407501430CV3480636single nucleotide variantNM_020859.4(SHROOM3):c.5158A>G (p.Ile1720Val)not specified [RCV004669764]uncertain significance47675689776756897Humanname
407501446CV3480639single nucleotide variantNM_020717.5(SHROOM4):c.3052A>G (p.Ile1018Val)not specified [RCV004669767]likely benignX5060809050608090Humanname
407501460CV3480643single nucleotide variantNM_020717.5(SHROOM4):c.4247G>T (p.Gly1416Val)not specified [RCV004669770]uncertain significanceX5059693050596930Humanname
407501465CV3480644single nucleotide variantNM_020717.5(SHROOM4):c.3215C>T (p.Ala1072Val)not specified [RCV004669771]uncertain significanceX5060792750607927Humanname
407501593CV3495612single nucleotide variantNM_020717.5(SHROOM4):c.4456C>G (p.Leu1486Val)not provided [RCV004697452]uncertain significanceX5059672150596721Humanname
597719066CV3598888single nucleotide variantNM_001172700.2(SHROOM1):c.184T>G (p.Tyr62Asp)not specified [RCV004861831]uncertain significance5132825957132825957Humanname
597719076CV3598889single nucleotide variantNM_001172700.2(SHROOM1):c.184T>C (p.Tyr62His)not specified [RCV004861832]uncertain significance5132825957132825957Humanname
597719083CV3598890single nucleotide variantNM_001172700.2(SHROOM1):c.250C>T (p.Arg84Trp)not specified [RCV004861833]uncertain significance5132825891132825891Humanname
597719159CV3598899single nucleotide variantNM_001649.4(SHROOM2):c.3814G>T (p.Ala1272Ser)not specified [RCV004861842]uncertain significanceX99373609937360Humanname
597719184CV3598902single nucleotide variantNM_001649.4(SHROOM2):c.4156G>A (p.Val1386Met)not specified [RCV004861845]uncertain significanceX99392119939211Humanname
597719209CV3598905single nucleotide variantNM_001649.4(SHROOM2):c.3479G>A (p.Arg1160His)not specified [RCV004861848]uncertain significanceX99327629932762Humanname
597719225CV3598907single nucleotide variantNM_001649.4(SHROOM2):c.3614C>A (p.Thr1205Asn)not specified [RCV004861850]uncertain significanceX99371609937160Humanname
597719238CV3598909single nucleotide variantNM_001649.4(SHROOM2):c.4363C>T (p.Arg1455Cys)not specified [RCV004861852]uncertain significanceX99446929944692Humanname
597719295CV3598916single nucleotide variantNM_001649.4(SHROOM2):c.4294G>C (p.Asp1432His)not specified [RCV004861859]uncertain significanceX99393499939349Humanname
597719304CV3598917single nucleotide variantNM_001649.4(SHROOM2):c.3439C>G (p.Leu1147Val)not specified [RCV004861860]uncertain significanceX99327229932722Humanname
597719321CV3598919single nucleotide variantNM_001649.4(SHROOM2):c.3986C>T (p.Ser1329Phe)not specified [RCV004861862]uncertain significanceX99375329937532Humanname
597719386CV3598926single nucleotide variantNM_001649.4(SHROOM2):c.4267G>A (p.Glu1423Lys)not specified [RCV004861869]uncertain significanceX99393229939322Humanname
597719435CV3598932single nucleotide variantNM_020859.4(SHROOM3):c.4465A>G (p.Ile1489Val)not specified [RCV004861875]uncertain significance47675494876754948Humanname
597719454CV3598934single nucleotide variantNM_020859.4(SHROOM3):c.3934G>A (p.Val1312Ile)not specified [RCV004861877]uncertain significance47675441776754417Humanname
597719465CV3598935single nucleotide variantNM_020859.4(SHROOM3):c.3163G>A (p.Ala1055Thr)not specified [RCV004861878]uncertain significance47674133676741336Humanname
597719475CV3598936single nucleotide variantNM_020859.4(SHROOM3):c.4061T>C (p.Ile1354Thr)not specified [RCV004861879]uncertain significance47675454476754544Humanname
597719484CV3598937single nucleotide variantNM_020859.4(SHROOM3):c.4894C>T (p.Pro1632Ser)not specified [RCV004861880]uncertain significance47675663376756633Humanname
597719492CV3598938single nucleotide variantNM_020859.4(SHROOM3):c.3899G>A (p.Gly1300Asp)not specified [RCV004861881]uncertain significance47675438276754382Humanname
597719498CV3598939single nucleotide variantNM_020859.4(SHROOM3):c.4423C>T (p.Pro1475Ser)not specified [RCV004861882]uncertain significance47675490676754906Humanname
597719506CV3598940single nucleotide variantNM_020859.4(SHROOM3):c.5279T>G (p.Leu1760Arg)not specified [RCV004861883]uncertain significance47675962576759625Humanname
597719565CV3598947single nucleotide variantNM_020859.4(SHROOM3):c.3184G>A (p.Glu1062Lys)not specified [RCV004861890]uncertain significance47674135776741357Humanname
597719575CV3598948single nucleotide variantNM_020859.4(SHROOM3):c.4106A>G (p.Gln1369Arg)not specified [RCV004861891]uncertain significance47675458976754589Humanname
597719595CV3598950single nucleotide variantNM_020859.4(SHROOM3):c.3624G>C (p.Glu1208Asp)not specified [RCV004861893]uncertain significance47674179776741797Humanname
597719604CV3598951single nucleotide variantNM_020859.4(SHROOM3):c.4136C>T (p.Pro1379Leu)not specified [RCV004861894]uncertain significance47675461976754619Humanname
597719615CV3598952single nucleotide variantNM_020859.4(SHROOM3):c.3188G>A (p.Arg1063His)not specified [RCV004861895]uncertain significance47674136176741361Humanname
597719634CV3598954single nucleotide variantNM_020859.4(SHROOM3):c.4589C>T (p.Pro1530Leu)not specified [RCV004861897]uncertain significance47675507276755072Humanname
597719659CV3598957single nucleotide variantNM_020859.4(SHROOM3):c.4069C>T (p.Pro1357Ser)not specified [RCV004861900]uncertain significance47675455276754552Humanname
597719715CV3598963single nucleotide variantNM_020859.4(SHROOM3):c.3023G>A (p.Arg1008His)not specified [RCV004861906]uncertain significance47674119676741196Humanname
597719736CV3598965single nucleotide variantNM_020859.4(SHROOM3):c.3149C>A (p.Pro1050Gln)not specified [RCV004861908]uncertain significance47674132276741322Humanname
597719743CV3598966single nucleotide variantNM_020859.4(SHROOM3):c.5515G>A (p.Gly1839Arg)not specified [RCV004861909]uncertain significance47677079176770791Humanname
597719762CV3598968single nucleotide variantNM_020859.4(SHROOM3):c.3658A>G (p.Met1220Val)not specified [RCV004861911]uncertain significance47674183176741831Humanname
597719806CV3598972single nucleotide variantNM_020859.4(SHROOM3):c.3262G>T (p.Asp1088Tyr)not specified [RCV004861915]uncertain significance47674143576741435Humanname
597719827CV3598974single nucleotide variantNM_020717.5(SHROOM4):c.4231A>C (p.Lys1411Gln)not specified [RCV004861917]uncertain significanceX5059694650596946Humanname
597719835CV3598975single nucleotide variantNM_020717.5(SHROOM4):c.4084T>C (p.Phe1362Leu)not specified [RCV004861918]uncertain significanceX5059839450598394Humanname
597719853CV3598977single nucleotide variantNM_020717.5(SHROOM4):c.4405G>A (p.Glu1469Lys)not specified [RCV004861920]uncertain significanceX5059677250596772Humanname
597719864CV3598978single nucleotide variantNM_020717.5(SHROOM4):c.4079A>G (p.Asn1360Ser)not specified [RCV004861921]uncertain significanceX5059839950598399Humanname
597719881CV3598980single nucleotide variantNM_020717.5(SHROOM4):c.3580T>C (p.Ser1194Pro)not specified [RCV004861923]uncertain significanceX5060756250607562Humanname
597719937CV3598986single nucleotide variantNM_020717.5(SHROOM4):c.3455C>G (p.Ala1152Gly)not specified [RCV004861929]uncertain significanceX5060768750607687Humanname
597719979CV3598990single nucleotide variantNM_020717.5(SHROOM4):c.3403G>A (p.Glu1135Lys)not specified [RCV004861933]uncertain significanceX5060773950607739Humanname
12836165CV379436single nucleotide variantNM_020717.5(SHROOM4):c.3645C>G (p.Phe1215Leu)not provided [RCV000422929]likely benign|uncertain significanceX5060749750607497Humanname
598242215CV3914286single nucleotide variantNM_001172700.2(SHROOM1):c.242C>T (p.Thr81Ile)not specified [RCV005276486]uncertain significance5132825899132825899Humanname
598242219CV3914287single nucleotide variantNM_001172700.2(SHROOM1):c.139A>G (p.Thr47Ala)not specified [RCV005276487]uncertain significance5132826002132826002Humanname
598242238CV3914291single nucleotide variantNM_001172700.2(SHROOM1):c.268G>C (p.Ala90Pro)not specified [RCV005276490]uncertain significance5132825873132825873Humanname
598242267CV3914297single nucleotide variantNM_001649.4(SHROOM2):c.3032G>T (p.Arg1011Leu)not specified [RCV005276496]uncertain significanceX99323159932315Humanname
598199336CV3914298single nucleotide variantNM_001649.4(SHROOM2):c.4282G>A (p.Asp1428Asn)not specified [RCV005268379]uncertain significanceX99393379939337Humanname
598242271CV3914299single nucleotide variantNM_001649.4(SHROOM2):c.4336C>T (p.Arg1446Cys)not specified [RCV005276497]uncertain significanceX99446659944665Humanname
598242282CV3914301single nucleotide variantNM_001649.4(SHROOM2):c.3241G>A (p.Ala1081Thr)not specified [RCV005276499]likely benignX99325249932524Humanname
598242294CV3914303single nucleotide variantNM_001649.4(SHROOM2):c.4069C>T (p.Leu1357Phe)not specified [RCV005276501]uncertain significanceX99376159937615Humanname
598242298CV3914304single nucleotide variantNM_001649.4(SHROOM2):c.3545C>T (p.Thr1182Met)not specified [RCV005276502]uncertain significanceX99328289932828Humanname
598242304CV3914305single nucleotide variantNM_001649.4(SHROOM2):c.3884G>T (p.Cys1295Phe)not specified [RCV005276503]uncertain significanceX99374309937430Humanname
598242308CV3914306single nucleotide variantNM_001649.4(SHROOM2):c.4354C>T (p.Arg1452Trp)not specified [RCV005276504]uncertain significanceX99446839944683Humanname
598242342CV3914313single nucleotide variantNM_001649.4(SHROOM2):c.3433C>T (p.Arg1145Cys)not specified [RCV005276511]likely benignX99327169932716Humanname
598242347CV3914314single nucleotide variantNM_001649.4(SHROOM2):c.3286A>T (p.Thr1096Ser)not specified [RCV005276512]uncertain significanceX99325699932569Humanname
598242364CV3914317single nucleotide variantNM_001649.4(SHROOM2):c.3912G>A (p.Met1304Ile)not specified [RCV005276515]uncertain significanceX99374589937458Humanname
598242369CV3914318single nucleotide variantNM_020859.4(SHROOM3):c.3343C>G (p.Arg1115Gly)not specified [RCV005276516]uncertain significance47674151676741516Humanname
598242379CV3914320single nucleotide variantNM_020859.4(SHROOM3):c.4016C>T (p.Thr1339Met)not specified [RCV005276518]likely benign47675449976754499Humanname
598242388CV3914322single nucleotide variantNM_020859.4(SHROOM3):c.5971A>G (p.Thr1991Ala)not specified [RCV005276520]likely benign47677915776779157Humanname
598242402CV3914325single nucleotide variantNM_020859.4(SHROOM3):c.3893G>A (p.Arg1298His)not specified [RCV005276522]uncertain significance47675437676754376Humanname
598242407CV3914326single nucleotide variantNM_020859.4(SHROOM3):c.3157A>G (p.Ser1053Gly)not specified [RCV005276523]uncertain significance47674133076741330Humanname
598242411CV3914327single nucleotide variantNM_020859.4(SHROOM3):c.5674C>T (p.Arg1892Trp)not specified [RCV005276524]uncertain significance47677886076778860Humanname
598242417CV3914328single nucleotide variantNM_020859.4(SHROOM3):c.4483C>T (p.Arg1495Trp)not specified [RCV005276525]uncertain significance47675496676754966Humanname
598242439CV3914332single nucleotide variantNM_020859.4(SHROOM3):c.4753A>G (p.Met1585Val)not specified [RCV005276529]likely benign47675649276756492Humanname
598242459CV3914336single nucleotide variantNM_020859.4(SHROOM3):c.3736A>G (p.Thr1246Ala)not specified [RCV005276533]likely benign47674190976741909Humanname
598242464CV3914337single nucleotide variantNM_020859.4(SHROOM3):c.4259T>C (p.Val1420Ala)not specified [RCV005276534]uncertain significance47675474276754742Humanname
598242496CV3914344single nucleotide variantNM_020859.4(SHROOM3):c.3839G>T (p.Cys1280Phe)not specified [RCV005276540]uncertain significance47675432276754322Humanname
598242501CV3914345single nucleotide variantNM_020859.4(SHROOM3):c.4357A>G (p.Asn1453Asp)not specified [RCV005276541]uncertain significance47675484076754840Humanname
598242510CV3914347single nucleotide variantNM_020859.4(SHROOM3):c.3179T>C (p.Leu1060Pro)not specified [RCV005276543]uncertain significance47674135276741352Humanname
598242515CV3914348single nucleotide variantNM_020859.4(SHROOM3):c.4714A>C (p.Asn1572His)not specified [RCV005276544]uncertain significance47675645376756453Humanname
598256497CV3914351single nucleotide variantNM_020859.4(SHROOM3):c.4556C>T (p.Ser1519Phe)not specified [RCV005279022]uncertain significance47675503976755039Humanname
598256543CV3914361single nucleotide variantNM_020717.5(SHROOM4):c.4126G>A (p.Val1376Ile)not specified [RCV005279032]uncertain significanceX5059835250598352Humanname
598256549CV3914362single nucleotide variantNM_020717.5(SHROOM4):c.4476T>G (p.Asn1492Lys)not specified [RCV005279033]uncertain significanceX5059670150596701Humanname
616934124CV4012125single nucleotide variantNM_020717.5(SHROOM4):c.4101G>C (p.Leu1367Phe)not specified [RCV005409159]uncertain significanceX5059837750598377Humanname
12905504CV413833single nucleotide variantNM_020717.5(SHROOM4):c.3104A>C (p.Glu1035Ala)X-linked intellectual disability, Stocco dos Santos type [RCV001196368]|not provided [RCV000487580]|not specified [RCV004023235]likely benign|uncertain significanceX5060803850608038Human1name
13215271CV430825single nucleotide variantNM_020717.5(SHROOM4):c.4321C>T (p.Arg1441Cys)not specified [RCV000502309]uncertain significanceX5059685650596856Humanname
13475370CV446688single nucleotide variantNM_020717.5(SHROOM4):c.4303G>T (p.Val1435Leu)not provided [RCV000519870]uncertain significanceX5059687450596874Humanname
13477695CV446689single nucleotide variantNM_020717.5(SHROOM4):c.4114C>A (p.Leu1372Met)not provided [RCV000520469]|not specified [RCV004023621]uncertain significanceX5059836450598364Humanname
13827538CV578596single nucleotide variantNM_020717.5(SHROOM4):c.3955G>A (p.Glu1319Lys)X-linked intellectual disability, Stocco dos Santos type [RCV000714626]uncertain significanceX5059852350598523Human1name
13836226CV587495single nucleotide variantNM_020859.4(SHROOM3):c.3581G>A (p.Gly1194Asp)not provided [RCV000732276]uncertain significance47674175476741754Humanname
14702648CV626299single nucleotide variantNM_020717.5(SHROOM4):c.3071T>C (p.Leu1024Pro)X-linked intellectual disability, Stocco dos Santos type [RCV000791095]uncertain significanceX5060807150608071Human1name
15184141CV709467single nucleotide variantNM_020859.4(SHROOM3):c.4670C>T (p.Ala1557Val)not provided [RCV000975041]benign47675515376755153Humanname
21070714CV798329single nucleotide variantNM_020717.5(SHROOM4):c.4288C>T (p.Arg1430Cys)not provided [RCV000999431]likely benignX5059688950596889Humanname
28887045CV860897single nucleotide variantNM_020717.5(SHROOM4):c.3394G>A (p.Glu1132Lys)not provided [RCV001091932]uncertain significanceX5060774850607748Humanname
8631289CV86449single nucleotide variantNM_020859.3(SHROOM3):c.5884C>T (p.Pro1962Ser)Malignant melanoma [RCV000066540]not provided47677907076779070Humanname
8631290CV86450single nucleotide variantNM_020859.3(SHROOM3):c.5926G>A (p.Glu1976Lys)Malignant melanoma [RCV000066541]not provided47677911276779112Humanname
41407595CV980404single nucleotide variantNM_020717.5(SHROOM4):c.3174C>A (p.Phe1058Leu)X-linked intellectual disability, Stocco dos Santos type [RCV001280816]uncertain significanceX5060796850607968Human1name
156398631CV2194691single nucleotide variantNM_001172700.2(SHROOM1):c.785A>T (p.His262Leu)not specified [RCV004075250]uncertain significance5132825356132825356Humanname
156346886CV2375332single nucleotide variantNM_001172700.2(SHROOM1):c.308C>T (p.Thr103Ile)not specified [RCV004232734]uncertain significance5132825833132825833Humanname
156094692CV2377787single nucleotide variantNM_001172700.2(SHROOM1):c.586G>A (p.Gly196Arg)not specified [RCV004230367]uncertain significance5132825555132825555Humanname
156085799CV2390694single nucleotide variantNM_001172700.2(SHROOM1):c.388G>A (p.Glu130Lys)not specified [RCV004239207]uncertain significance5132825753132825753Humanname
156005100CV2401055single nucleotide variantNM_001172700.2(SHROOM1):c.591G>C (p.Glu197Asp)not specified [RCV004244327]uncertain significance5132825550132825550Humanname
329373785CV2447403single nucleotide variantNM_001172700.2(SHROOM1):c.731G>A (p.Gly244Asp)not specified [RCV004262678]uncertain significance5132825410132825410Humanname
329391698CV2453048single nucleotide variantNM_001172700.2(SHROOM1):c.344T>C (p.Leu115Pro)not specified [RCV004277662]uncertain significance5132825797132825797Humanname
401732437CV2678104single nucleotide variantNM_001172700.2(SHROOM1):c.585G>C (p.Glu195Asp)not specified [RCV004296619]uncertain significance5132825556132825556Humanname
401727523CV2678367single nucleotide variantNM_001172700.2(SHROOM1):c.431G>A (p.Arg144Gln)not specified [RCV004292397]uncertain significance5132825710132825710Humanname
401756823CV2696509single nucleotide variantNM_001172700.2(SHROOM1):c.380A>G (p.Gln127Arg)not specified [RCV004312579]likely benign5132825761132825761Humanname
405733068CV3314693single nucleotide variantNM_001172700.2(SHROOM1):c.373G>A (p.Ala125Thr)not specified [RCV004451278]uncertain significance5132825768132825768Humanname
405733074CV3314694single nucleotide variantNM_001172700.2(SHROOM1):c.377C>T (p.Ala126Val)not specified [RCV004451279]uncertain significance5132825764132825764Humanname
405733082CV3314695single nucleotide variantNM_001172700.2(SHROOM1):c.397A>G (p.Ser133Gly)not specified [RCV004451280]uncertain significance5132825744132825744Humanname
405733095CV3314696single nucleotide variantNM_001172700.2(SHROOM1):c.913C>T (p.Arg305Trp)not specified [RCV004451281]uncertain significance5132825228132825228Humanname
405733103CV3314697single nucleotide variantNM_001172700.2(SHROOM1):c.970A>C (p.Ile324Leu)not specified [RCV004451282]uncertain significance5132825171132825171Humanname
405733110CV3314698single nucleotide variantNM_001172700.2(SHROOM1):c.971T>C (p.Ile324Thr)not specified [RCV004451283]uncertain significance5132825170132825170Humanname
407501140CV3480591single nucleotide variantNM_001172700.2(SHROOM1):c.701G>A (p.Arg234Gln)not specified [RCV004669727]uncertain significance5132825440132825440Humanname
597719003CV3598881single nucleotide variantNM_001172700.2(SHROOM1):c.463G>A (p.Glu155Lys)not specified [RCV004861824]uncertain significance5132825678132825678Humanname
597719057CV3598887single nucleotide variantNM_001172700.2(SHROOM1):c.437A>G (p.Gln146Arg)not specified [RCV004861830]uncertain significance5132825704132825704Humanname
597719091CV3598891single nucleotide variantNM_001172700.2(SHROOM1):c.676C>T (p.Pro226Ser)not specified [RCV004861834]uncertain significance5132825465132825465Humanname
598242248CV3914293single nucleotide variantNM_001172700.2(SHROOM1):c.884G>A (p.Gly295Asp)not specified [RCV005276492]uncertain significance5132825257132825257Humanname
156111777CV2217929single nucleotide variantNM_001172700.2(SHROOM1):c.1762C>A (p.Pro588Thr)not specified [RCV004086386]uncertain significance5132823899132823899Humanname
156382660CV2223584single nucleotide variantNM_001172700.2(SHROOM1):c.1363C>A (p.Gln455Lys)not specified [RCV004091938]uncertain significance5132824298132824298Humanname
156289715CV2299382single nucleotide variantNM_001172700.2(SHROOM1):c.2066C>T (p.Ala689Val)not specified [RCV004152681]uncertain significance5132823410132823410Humanname
156351840CV2323845single nucleotide variantNM_001172700.2(SHROOM1):c.1151C>A (p.Ser384Tyr)not specified [RCV004176378]uncertain significance5132824705132824705Humanname
156268808CV2326330single nucleotide variantNM_001172700.2(SHROOM1):c.2479C>T (p.His827Tyr)not specified [RCV004180873]uncertain significance5132822876132822876Humanname
156055816CV2343424single nucleotide variantNM_001172700.2(SHROOM1):c.2189T>A (p.Leu730Gln)not specified [RCV004197500]uncertain significance5132823287132823287Humanname
156068420CV2356851single nucleotide variantNM_001172700.2(SHROOM1):c.1025A>G (p.Lys342Arg)not specified [RCV004204229]uncertain significance5132825027132825027Humanname
156345024CV2372855single nucleotide variantNM_001172700.2(SHROOM1):c.1945G>A (p.Gly649Ser)not specified [RCV004222037]uncertain significance5132823631132823631Humanname
155999464CV2378589single nucleotide variantNM_001172700.2(SHROOM1):c.1778C>T (p.Ala593Val)not specified [RCV004229023]uncertain significance5132823883132823883Humanname
329373381CV2434230single nucleotide variantNM_001172700.2(SHROOM1):c.2498C>G (p.Pro833Arg)not specified [RCV004251906]uncertain significance5132822857132822857Humanname
329361006CV2463188single nucleotide variantNM_001172700.2(SHROOM1):c.2198C>A (p.Ala733Glu)not specified [RCV004274968]uncertain significance5132823278132823278Humanname
401721404CV2673704single nucleotide variantNM_001172700.2(SHROOM1):c.1567G>A (p.Ala523Thr)not specified [RCV004282433]uncertain significance5132824094132824094Humanname
401769382CV2689685single nucleotide variantNM_001172700.2(SHROOM1):c.1375G>A (p.Gly459Ser)not specified [RCV004297605]uncertain significance5132824286132824286Humanname
401732689CV2691080single nucleotide variantNM_001172700.2(SHROOM1):c.1273G>A (p.Gly425Ser)not specified [RCV004301079]uncertain significance5132824388132824388Humanname
401721246CV2709885single nucleotide variantNM_001172700.2(SHROOM1):c.2455G>T (p.Ala819Ser)not specified [RCV004321177]uncertain significance5132822900132822900Humanname
401730819CV2711510single nucleotide variantNM_001172700.2(SHROOM1):c.1477A>C (p.Thr493Pro)not specified [RCV004306825]uncertain significance5132824184132824184Humanname
401742484CV2715241single nucleotide variantNM_001172700.2(SHROOM1):c.1762C>G (p.Pro588Ala)not specified [RCV004324590]uncertain significance5132823899132823899Humanname
401875445CV2789056single nucleotide variantNM_001172700.2(SHROOM1):c.1456G>A (p.Gly486Arg)not specified [RCV004363356]uncertain significance5132824205132824205Humanname
405732985CV3314682single nucleotide variantNM_001172700.2(SHROOM1):c.1055C>T (p.Ala352Val)not specified [RCV004451267]uncertain significance5132824801132824801Humanname
405732989CV3314683single nucleotide variantNM_001172700.2(SHROOM1):c.1058C>T (p.Ala353Val)not specified [RCV004451268]uncertain significance5132824798132824798Humanname
405733010CV3314685single nucleotide variantNM_001172700.2(SHROOM1):c.1552C>T (p.Pro518Ser)not specified [RCV004451270]uncertain significance5132824109132824109Humanname
405733025CV3314687single nucleotide variantNM_001172700.2(SHROOM1):c.1772G>T (p.Gly591Val)not specified [RCV004451272]uncertain significance5132823889132823889Humanname
405733032CV3314688single nucleotide variantNM_001172700.2(SHROOM1):c.1969C>T (p.Arg657Cys)not specified [RCV004451273]uncertain significance5132823507132823507Humanname
405733042CV3314689single nucleotide variantNM_001172700.2(SHROOM1):c.1993C>T (p.Leu665Phe)not specified [RCV004451274]uncertain significance5132823483132823483Humanname
405733048CV3314690single nucleotide variantNM_001172700.2(SHROOM1):c.2116A>T (p.Met706Leu)not specified [RCV004451275]uncertain significance5132823360132823360Humanname
405733055CV3314691single nucleotide variantNM_001172700.2(SHROOM1):c.2425C>T (p.Arg809Cys)not specified [RCV004451276]uncertain significance5132822930132822930Humanname
407519206CV3480586single nucleotide variantNM_001172700.2(SHROOM1):c.2323G>A (p.Glu775Lys)not specified [RCV004676390]uncertain significance5132823032132823032Humanname
407501121CV3480587single nucleotide variantNM_001172700.2(SHROOM1):c.1980G>C (p.Lys660Asn)not specified [RCV004669723]uncertain significance5132823496132823496Humanname
407501126CV3480588single nucleotide variantNM_001172700.2(SHROOM1):c.1924G>A (p.Ala642Thr)not specified [RCV004669724]uncertain significance5132823652132823652Humanname
407501131CV3480589single nucleotide variantNM_001172700.2(SHROOM1):c.2195G>A (p.Arg732Gln)not specified [RCV004669725]uncertain significance5132823281132823281Humanname
407501150CV3480595single nucleotide variantNM_001172700.2(SHROOM1):c.2134G>A (p.Val712Met)not specified [RCV004669729]uncertain significance5132823342132823342Humanname
597718996CV3598880single nucleotide variantNM_001172700.2(SHROOM1):c.1748G>A (p.Arg583Gln)not specified [RCV004861823]uncertain significance5132823913132823913Humanname
597719011CV3598882single nucleotide variantNM_001172700.2(SHROOM1):c.1753G>A (p.Ala585Thr)not specified [RCV004861825]uncertain significance5132823908132823908Humanname
597719028CV3598884single nucleotide variantNM_001172700.2(SHROOM1):c.2124C>G (p.Asp708Glu)not specified [RCV004861827]uncertain significance5132823352132823352Humanname
597719038CV3598885single nucleotide variantNM_001172700.2(SHROOM1):c.2285T>A (p.Leu762Gln)not specified [RCV004861828]uncertain significance5132823070132823070Humanname
597719047CV3598886single nucleotide variantNM_001172700.2(SHROOM1):c.1748G>C (p.Arg583Pro)not specified [RCV004861829]uncertain significance5132823913132823913Humanname
598242197CV3914283single nucleotide variantNM_001172700.2(SHROOM1):c.1490G>C (p.Ser497Thr)not specified [RCV005276483]uncertain significance5132824171132824171Humanname
598242203CV3914284single nucleotide variantNM_001172700.2(SHROOM1):c.2411G>A (p.Arg804His)not specified [RCV005276484]uncertain significance5132822944132822944Humanname
598242210CV3914285single nucleotide variantNM_001172700.2(SHROOM1):c.2533C>T (p.Pro845Ser)not specified [RCV005276485]uncertain significance5132822822132822822Humanname
598242224CV3914288single nucleotide variantNM_001172700.2(SHROOM1):c.1658A>T (p.Asp553Val)not specified [RCV005276488]uncertain significance5132824003132824003Humanname
598199327CV3914289single nucleotide variantNM_001172700.2(SHROOM1):c.1297G>T (p.Val433Phe)not specified [RCV005268378]uncertain significance5132824364132824364Humanname
598242231CV3914290single nucleotide variantNM_001172700.2(SHROOM1):c.1613C>T (p.Pro538Leu)not specified [RCV005276489]uncertain significance5132824048132824048Humanname
598242243CV3914292single nucleotide variantNM_001172700.2(SHROOM1):c.1744G>T (p.Val582Phe)not specified [RCV005276491]uncertain significance5132823917132823917Humanname
598242254CV3914294single nucleotide variantNM_001172700.2(SHROOM1):c.1969C>G (p.Arg657Gly)not specified [RCV005276493]uncertain significance5132823507132823507Humanname
598242263CV3914296single nucleotide variantNM_001172700.2(SHROOM1):c.2350G>C (p.Glu784Gln)not specified [RCV005276495]uncertain significance5132823005132823005Humanname
15174726CV698775single nucleotide variantNM_001172700.2(SHROOM1):c.1777G>A (p.Ala593Thr)not provided [RCV000950408]benign|likely benign5132823884132823884Humanname
8642883CV101867microsatelliteNM_020717.5(SHROOM4):c.3393GGA[8] (p.Glu1151dup)X-linked intellectual disability, Stocco dos Santos type [RCV001807030]|not specified [RCV000082025]benignX5060772850607729Humanname
598128220CV3887418microsatelliteNM_020717.5(SHROOM4):c.3440AGG[4] (p.Glu1151del)not provided [RCV005243591]likely benignX5060768850607690Humanname
13830841CV581029microsatelliteNM_020717.5(SHROOM4):c.3440AGG[6] (p.Glu1151dup)not specified [RCV004026923]benignX5060768750607688Humanname
11655013CV271708indelNM_020717.5(SHROOM4):c.3414delinsGGAG (p.Glu1151dup)X-linked intellectual disability, Stocco dos Santos type [RCV002494870]|not specified [RCV000322654]benign|likely benignX5060772850607728Humanname
401927044CV2828956deletionNM_020717.5(SHROOM4):c.6_8del (p.Glu2_Asn3delinsAsp)not provided [RCV003438337]uncertain significanceX5081401150814013Humanname
8660686CV135756insertionNM_020717.3(SHROOM4):c.3413_3414insGG (p.Glu1140Lysfs)not provided [RCV000118347]uncertain significanceX5060772850607729Humanname
8642882CV101866duplicationNM_020717.5(SHROOM4):c.3372_3383dup (p.Gln1125_Gln1128dup)X-linked intellectual disability, Stocco dos Santos type [RCV001807029]|not specified [RCV000082024]benignX5060775850607759Human1name
153305626CV1687729duplicationNM_020717.5(SHROOM4):c.3372_3374dup (p.Gln1128_Lys1129insGln)not provided [RCV002263550]uncertain significanceX5060776750607768Humanname
408377843CV3500848microsatelliteNM_020717.5(SHROOM4):c.3393GGA[9] (p.Glu1151_Ala1152insGluGlu)not provided [RCV004722498]likely benignX5060772850607729Humanname
155664046CV1785908insertionNM_020717.5(SHROOM4):c.3393_3394insCAGAAGCAACAGGAG (p.Gln1131_Glu1132insGlnLysGlnGlnGlu)not specified [RCV004047905]benignX5060774850607749Humanname