SPRED1 — 1197 ClinVar variants

Pathogenic 90

• p.Arg117Ter Multiple submitters SPRED1-related disorder
• p.Arg16Ter Multiple submitters Cardiovascular phenotype
• p.Arg18Ter Multiple submitters SPRED1-related disorder
• p.Arg24Ter Multiple submitters Legius syndrome
• p.Arg64Ter Multiple submitters SPRED1-related disorder
• p.Arg66fs Multiple submitters Cardiovascular phenotype
• p.Asn132fs Multiple submitters Legius syndrome
• p.Gln339Ter Multiple submitters Legius syndrome
• p.Gln50Ter Multiple submitters Legius syndrome
• p.Gly115fs Multiple submitters Legius syndrome
• p.Lys77Ter Multiple submitters Legius syndrome
• p.Ser381Ter Multiple submitters Legius syndrome
• p.Trp31Ter Multiple submitters Legius syndrome
• c.207+1G>T Single submitter Legius syndrome
• c.423+2T>C Single submitter Legius syndrome
• c.684+1G>T Single submitter Legius syndrome
• p.Ala119fs Single submitter Legius syndrome
• p.Ala137fs Single submitter Legius syndrome
• p.Ala409fs Single submitter Legius syndrome
• p.Arg110fs Single submitter Legius syndrome
• p.Arg117fs Single submitter Legius syndrome
• p.Arg207Ter Single submitter Legius syndrome
• p.Arg326Ter Single submitter Legius syndrome
• p.Arg349fs Single submitter Noonan syndrome and Noonan-related syndrome
• p.Asp108fs Single submitter Legius syndrome
• p.Asp139fs Single submitter Legius syndrome
• p.Asp154fs Single submitter Legius syndrome
• p.Asp265fs Single submitter Legius syndrome
• p.Cys335Ter Single submitter Legius syndrome
• p.Cys352_Gln353insTer Single submitter Legius syndrome
• p.Gln125Ter Single submitter Legius syndrome
• p.Gln141Ter Single submitter Legius syndrome
• p.Gln159fs Single submitter Legius syndrome
• p.Gln189Ter Single submitter Legius syndrome
• p.Gln194Ter Single submitter Legius syndrome
• p.Gln205Ter Single submitter Legius syndrome
• p.Gln213Ter Single submitter Legius syndrome
• p.Gln240fs Single submitter Legius syndrome
• p.Gln281Ter Single submitter Legius syndrome
• p.Glu129fs Single submitter Legius syndrome
• p.Glu129Ter Single submitter Legius syndrome
• p.Glu242Ter Single submitter Legius syndrome
• p.Glu373Ter Single submitter Legius syndrome
• p.Glu3fs Single submitter Legius syndrome
• p.Gly30fs Single submitter Legius syndrome
• p.Gly35Ter Single submitter Legius syndrome
• p.Gly385fs Single submitter Legius syndrome
• p.His378fs Single submitter Legius syndrome
• p.His91fs Single submitter Legius syndrome
• p.Ile245fs Single submitter Legius syndrome
• p.Ile413fs Single submitter Legius syndrome
• p.Ile60fs Single submitter Legius syndrome
• p.Ile94fs Single submitter Legius syndrome
• p.Leu101fs Single submitter Legius syndrome
• p.Leu302fs Single submitter Legius syndrome
• p.Leu39fs Single submitter Legius syndrome
• p.Lys232fs Single submitter Legius syndrome
• p.Lys301Ter Single submitter Legius syndrome
• p.Lys351fs Single submitter Legius syndrome
• p.Lys46fs Single submitter Legius syndrome
• p.Lys98fs Single submitter Legius syndrome
• p.Met380_Ser381insTer Single submitter Legius syndrome
• p.Met425fs Single submitter Legius syndrome
• p.Phe103fs Single submitter Legius syndrome
• p.Phe157fs Single submitter
• p.Phe59fs Single submitter Legius syndrome
• p.Pro230_Leu231insTer Single submitter Legius syndrome
• p.Pro264fs Single submitter Cardiovascular phenotype
• p.Pro33fs Single submitter Legius syndrome
• p.Pro358fs Single submitter Legius syndrome
• p.Ser165fs Single submitter Legius syndrome
• p.Ser233Ter Single submitter Legius syndrome
• p.Ser27Ter Single submitter Legius syndrome
• p.Ser317Ter Single submitter Legius syndrome
• p.Ser367fs Single submitter Legius syndrome
• p.Ser392Ter Single submitter Legius syndrome
• p.Ser411fs Single submitter Legius syndrome
• p.Thr102fs Single submitter Legius syndrome
• p.Trp267Ter Single submitter Legius syndrome
• p.Tyr14fs Single submitter Legius syndrome
• p.Tyr14Ter Single submitter Legius syndrome
• p.Tyr187Ter Single submitter Legius syndrome
• p.Tyr261Ter Single submitter Legius syndrome
• p.Tyr337Ter Single submitter Legius syndrome
• p.Tyr364fs Single submitter Legius syndrome
• p.Tyr82delinsTrpSerGlyAspArgAspHisProGlyTer Single submitter Legius syndrome
• c.423+1G>A No assertion criteria Legius syndrome
• p.Arg262Ter No assertion criteria Legius syndrome
• p.Gln215Ter No assertion criteria Legius syndrome
• p.Val44Asp No assertion criteria Legius syndrome

Pathogenic/Likely pathogenic 15

• p.Arg110delinsSerTer Multiple submitters SPRED1-related disorder
• p.Arg251Ter Multiple submitters Legius syndrome
• p.Arg325Ter Multiple submitters SPRED1-related disorder
• p.Arg403Ter Multiple submitters Legius syndrome
• p.Gln226Ter Multiple submitters Legius syndrome
• p.Glu384fs Multiple submitters SPRED1-related disorder
• p.Gly350fs Multiple submitters SPRED1-related disorder
• p.Lys289fs Multiple submitters Legius syndrome
• p.Met1Ile Multiple submitters SPRED1-related disorder
• p.Met1Val Multiple submitters Legius syndrome
• p.Met266fs Multiple submitters SPRED1-related disorder
• p.Ser290fs Multiple submitters Legius syndrome
• p.Ser308fs Multiple submitters Legius syndrome
• p.Thr102Arg Multiple submitters Inborn genetic diseases
• p.Thr102Met Multiple submitters Legius syndrome

Likely pathogenic 47

• p.Arg24Gln Multiple submitters SPRED1-related disorder ⚠
• p.Tyr258Ter Multiple submitters Legius syndrome
• c.207+1G>A Single submitter Legius syndrome
• c.207+2T>G Single submitter Legius syndrome
• c.32+2T>C Single submitter neurofibromatosis type 1
• c.32+2T>G Single submitter Legius syndrome
• c.376+1G>A Single submitter Legius syndrome
• c.376+1G>T Single submitter Legius syndrome
• c.376+2T>C Single submitter Legius syndrome
• c.423+1del Single submitter Legius syndrome
• c.424-2A>T Single submitter Legius syndrome
• c.582+1G>T Single submitter Legius syndrome
• c.582+2T>C Single submitter Legius syndrome
• c.685-2A>G Single submitter neurofibromatosis type 1
• p.Arg118fs Single submitter Legius syndrome
• p.Asn172_Ile173insTer Single submitter SPRED1-related disorder
• p.Asn269fs Single submitter SPRED1-related disorder
• p.Asp398fs Single submitter
• p.Asp79fs Single submitter Legius syndrome
• p.Asp9fs Single submitter Legius syndrome
• p.Cys296Ter Single submitter SPRED1-related disorder
• p.Cys379fs Single submitter Legius syndrome
• p.Cys416Ter Single submitter Noonan syndrome and Noonan-related syndrome
• p.Cys55fs Single submitter Noonan syndrome and Noonan-related syndrome
• p.Gln158Ter Single submitter Legius syndrome
• p.Gln281fs Single submitter Legius syndrome
• p.Gln353Ter Single submitter
• p.Glu328fs Single submitter
• p.Ile234fs Single submitter Legius syndrome
• p.Ile320fs Single submitter Legius syndrome
• p.Ile359fs Single submitter Cardiovascular phenotype
• p.Leu370fs Single submitter Legius syndrome
• p.Lys284fs Single submitter SPRED1-related disorder
• p.Lys306Ter Single submitter Noonan syndrome and Noonan-related syndrome
• p.Lys322Ter Single submitter
• p.Met188fs Single submitter SPRED1-related disorder
• p.Met1fs Single submitter Legius syndrome
• p.Met1Leu Single submitter Legius syndrome
• p.Met209fs Single submitter SPRED1-related disorder
• p.Met380fs Single submitter
• p.Phe400fs Single submitter Legius syndrome
• p.Pro175fs Single submitter Legius syndrome
• p.Ser295fs Single submitter Legius syndrome
• p.Thr102Lys Single submitter Legius syndrome
• p.Trp92Ter Single submitter Legius syndrome
• p.Val309fs Single submitter Noonan syndrome and Noonan-related syndrome
• p.Val310_Phe311insTer Single submitter Legius syndrome

Conflicting classifications of pathogenicity 65

• c.208-6T>C Single submitter Cardiovascular phenotype
• c.33-1G>A Single submitter Legius syndrome ⚠
• c.424-5A>G Single submitter Legius syndrome
• c.684+50A>T Single submitter
• c.-18G>T Single submitter
• c.*3192G>A Single submitter Legius syndrome
• c.*3647T>G Single submitter Legius syndrome
• c.*3745A>G Single submitter Legius syndrome
• c.*4304G>A Single submitter Legius syndrome
• c.*4471C>A Single submitter Legius syndrome
• c.*4472C>A Single submitter Legius syndrome
• c.*578AT[13] Single submitter
• p.Ala134Gly Single submitter Legius syndrome ⚠
• p.Ala276Thr Single submitter Legius syndrome ⚠
• p.Ala409Phe Single submitter Legius syndrome
• p.Ala409Thr Single submitter Legius syndrome ⚠
• p.Ala432Val Single submitter Cardiovascular phenotype ⚠
• p.Arg332His Single submitter Cardiovascular phenotype ⚠
• p.Arg334His Single submitter Noonan syndrome and Noonan-related syndrome ⚠
• p.Arg349Thr Single submitter Noonan syndrome and Noonan-related syndrome ⚠
• p.Arg428His Single submitter Cardiovascular phenotype ⚠
• p.Arg61Cys Single submitter Legius syndrome ⚠
• p.Arg61His Single submitter Legius syndrome ⚠
• p.Arg66= Single submitter Cardiovascular phenotype
• p.Asn193Ser Single submitter Cardiovascular phenotype ⚠
• p.Asn269Lys Single submitter Legius syndrome ⚠
• p.Asn53Asp Single submitter Cardiovascular phenotype ⚠
• p.Asp298His Single submitter Cardiovascular phenotype ⚠
• p.Cys296Tyr Single submitter Cardiovascular phenotype ⚠
• p.Cys335= Single submitter Cardiovascular phenotype
• p.Cys362Tyr Single submitter Cardiovascular phenotype ⚠
• p.Cys401Phe Single submitter Cardiovascular phenotype ⚠
• p.Cys416Arg Single submitter Cardiovascular phenotype ⚠
• p.Cys435Tyr Single submitter Cardiovascular phenotype ⚠
• p.Cys436Tyr Single submitter Cardiovascular phenotype ⚠
• p.Cys55Arg Single submitter Cardiovascular phenotype ⚠
• p.Gln159His Single submitter Legius syndrome ⚠
• p.Gln281Arg Single submitter Cardiovascular phenotype ⚠
• p.Glu129Lys Single submitter Cardiovascular phenotype ⚠
• p.Gly438Val Single submitter Cardiovascular phenotype ⚠
• p.His236Arg Single submitter Legius syndrome ⚠
• p.Ile173Met Single submitter Cardiovascular phenotype ⚠
• p.Ile204Val Single submitter Legius syndrome ⚠
• p.Ile234Met Single submitter Cardiovascular phenotype ⚠
• p.Ile94Thr Single submitter Legius syndrome
• p.Lys288Asn Single submitter Legius syndrome
• p.Lys321= Single submitter Legius syndrome
• p.Met188Ile Single submitter Legius syndrome ⚠
• p.Met425Val Single submitter Legius syndrome ⚠
• p.Pro315Leu Single submitter Legius syndrome ⚠
• p.Ser124Phe Single submitter Cardiovascular phenotype ⚠
• p.Ser171Pro Single submitter Cardiovascular phenotype ⚠
• p.Ser279Asn Single submitter Cardiovascular phenotype ⚠
• p.Ser308Ala Single submitter Legius syndrome ⚠
• p.Ser317= Single submitter Noonan syndrome and Noonan-related syndrome
• p.Thr196Ile Single submitter Noonan syndrome and Noonan-related syndrome ⚠
• p.Thr313Met Single submitter Legius syndrome ⚠
• p.Trp404Ter Single submitter Cardiovascular phenotype ⚠
• p.Tyr14= Single submitter Legius syndrome
• p.Tyr292Cys Single submitter Cardiovascular phenotype ⚠
• p.Val309Ala Single submitter Cardiovascular phenotype ⚠
• p.Val336Ile Single submitter Legius syndrome ⚠
• p.Val421Ile Single submitter Cardiovascular phenotype ⚠
• p.Val42Ile Single submitter Noonan syndrome and Noonan-related syndrome
• p.Val71Ile Single submitter Legius syndrome ⚠

Benign 43

• c.377-149G>A Multiple submitters
• c.377-319T>C Multiple submitters
• c.423+103C>T Multiple submitters
• c.423+105C>G Multiple submitters
• c.423+52C>A Multiple submitters
• c.424-18G>A Multiple submitters Legius syndrome
• c.424-8C>A Multiple submitters Legius syndrome
• c.424-98T>C Multiple submitters
• c.582+52A>G Multiple submitters
• c.684+49_684+50insTT Multiple submitters Legius syndrome
• c.-93C>T Multiple submitters Noonan syndrome and Noonan-related syndrome
• c.*1724A>C Multiple submitters Legius syndrome
• c.*248T>C Multiple submitters Legius syndrome
• c.*2831G>A Multiple submitters Legius syndrome
• c.*3521A>G Multiple submitters Legius syndrome
• c.*3830G>A Multiple submitters Legius syndrome
• c.*3946G>A Multiple submitters Legius syndrome
• c.*3996G>A Multiple submitters Legius syndrome
• c.*4662T>A Multiple submitters Legius syndrome
• c.*4932A>G Multiple submitters Legius syndrome
• c.*5110C>T Multiple submitters Legius syndrome
• p.Lys97= Multiple submitters Cardiovascular phenotype
• p.Val348= Multiple submitters Cardiovascular phenotype
• c.208-18G>A Single submitter
• c.32+307A>C Single submitter
• c.33-274A>G Single submitter
• c.376+279_376+291del Single submitter
• c.423+272A>G Single submitter
• c.423+292G>A Single submitter
• c.582+22del Single submitter Legius syndrome
• c.684+167A>G Single submitter
• c.684+50_684+51insAAT Single submitter
• c.684+53_684+54insTA Single submitter
• c.685-184C>T Single submitter
• c.685-206G>A Single submitter
• c.685-244G>C Single submitter
• c.685-3dup Single submitter Legius syndrome
• c.*2742G>T Single submitter Legius syndrome
• c.*3698T>G Single submitter Legius syndrome
• c.*427A>T Single submitter Legius syndrome
• c.*5398G>T Single submitter Legius syndrome
• c.424-8= No assertion criteria Legius syndrome
• c.424-98= No assertion criteria Legius syndrome

Benign/Likely benign 17

• c.207+15A>G Multiple submitters Legius syndrome
• c.207+37A>G Multiple submitters Legius syndrome
• c.32+20C>T Multiple submitters Legius syndrome
• c.376+3A>T Multiple submitters Cardiovascular phenotype
• c.377-10A>G Multiple submitters Legius syndrome
• c.582+17T>A Multiple submitters Legius syndrome
• c.583-7A>G Multiple submitters Noonan syndrome and Noonan-related syndrome
• c.685-8T>C Multiple submitters Noonan syndrome and Noonan-related syndrome
• c.*256C>T Multiple submitters Noonan syndrome and Noonan-related syndrome
• p.Ala409Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Ala409Val Multiple submitters Cardiovascular phenotype ⚠
• p.Asn10Lys Multiple submitters Legius syndrome
• p.Asp398Asn Multiple submitters Cardiovascular phenotype
• p.Asp9Val Multiple submitters Noonan syndrome and Noonan-related syndrome
• p.Lys97Arg Multiple submitters Legius syndrome
• p.Ser149Asn Multiple submitters Legius syndrome
• p.Val212Ile Multiple submitters Noonan syndrome and Noonan-related syndrome

Likely benign 283

• c.207+10A>G Multiple submitters Legius syndrome
• c.33-11A>G Multiple submitters Legius syndrome
• c.582+16A>G Multiple submitters Legius syndrome
• c.583-9G>T Multiple submitters Legius syndrome
• c.685-17A>G Multiple submitters Legius syndrome
• c.*3057A>G Multiple submitters Legius syndrome
• c.*3561G>A Multiple submitters Legius syndrome
• c.*3591C>T Multiple submitters Legius syndrome
• c.*5202C>T Multiple submitters Legius syndrome
• p.Ala107= Multiple submitters Cardiovascular phenotype
• p.Ala111= Multiple submitters Cardiovascular phenotype
• p.Ala134= Multiple submitters Legius syndrome
• p.Ala142= Multiple submitters Cardiovascular phenotype
• p.Ala183= Multiple submitters Legius syndrome
• p.Ala192= Multiple submitters Legius syndrome
• p.Ala355= Multiple submitters Cardiovascular phenotype
• p.Ala432= Multiple submitters Legius syndrome
• p.Ala56= Multiple submitters Cardiovascular phenotype
• p.Arg18= Multiple submitters Cardiovascular phenotype
• p.Arg61= Multiple submitters Cardiovascular phenotype
• p.Asn53= Multiple submitters Cardiovascular phenotype
• p.Asp146= Multiple submitters Legius syndrome
• p.Asp382= Multiple submitters Cardiovascular phenotype
• p.Asp386= Multiple submitters Legius syndrome
• p.Asp397= Multiple submitters Cardiovascular phenotype
• p.Asp398= Multiple submitters Legius syndrome
• p.Asp9= Multiple submitters Cardiovascular phenotype
• p.Cys127= Multiple submitters Cardiovascular phenotype
• p.Cys296= Multiple submitters Legius syndrome
• p.Cys296Arg Multiple submitters Cardiovascular phenotype
• p.Cys401= Multiple submitters Legius syndrome
• p.Cys426= Multiple submitters Cardiovascular phenotype
• p.Cys429= Multiple submitters Legius syndrome
• p.Cys433= Multiple submitters Cardiovascular phenotype
• p.Gln215His Multiple submitters Legius syndrome
• p.Gln281= Multiple submitters Cardiovascular phenotype
• p.Glu145= Multiple submitters Legius syndrome
• p.Glu3= Multiple submitters Legius syndrome
• p.Gly100= Multiple submitters Cardiovascular phenotype
• p.Gly136= Multiple submitters Cardiovascular phenotype
• p.Gly198= Multiple submitters Cardiovascular phenotype
• p.Gly30= Multiple submitters Cardiovascular phenotype
• p.Gly330= Multiple submitters Legius syndrome
• p.Ile116= Multiple submitters Cardiovascular phenotype
• p.Leu293= Multiple submitters Legius syndrome
• p.Leu302= Multiple submitters Legius syndrome
• p.Leu318= Multiple submitters Legius syndrome
• p.Leu370= Multiple submitters Legius syndrome
• p.Leu39= Multiple submitters Cardiovascular phenotype
• p.Leu402= Multiple submitters Legius syndrome
• p.Leu405= Multiple submitters Legius syndrome
• p.Lys153= Multiple submitters Legius syndrome
• p.Lys284= Multiple submitters Cardiovascular phenotype
• p.Lys324= Multiple submitters Cardiovascular phenotype
• p.Lys360= Multiple submitters Cardiovascular phenotype
• p.Phe59= Multiple submitters Cardiovascular phenotype
• p.Pro128= Multiple submitters Cardiovascular phenotype
• p.Pro390= Multiple submitters Cardiovascular phenotype
• p.Pro415= Multiple submitters Cardiovascular phenotype
• p.Ser13= Multiple submitters Cardiovascular phenotype
• p.Ser190= Multiple submitters Cardiovascular phenotype
• p.Ser208= Multiple submitters Legius syndrome
• p.Ser279= Multiple submitters Cardiovascular phenotype
• p.Ser287= Multiple submitters Cardiovascular phenotype
• p.Ser295= Multiple submitters Cardiovascular phenotype
• p.Ser304= Multiple submitters Cardiovascular phenotype
• p.Ser333= Multiple submitters Legius syndrome
• p.Ser381= Multiple submitters Cardiovascular phenotype
• p.Ser396= Multiple submitters Legius syndrome
• p.Ser41= Multiple submitters Cardiovascular phenotype
• p.Thr196= Multiple submitters Cardiovascular phenotype
• p.Thr23= Multiple submitters Legius syndrome
• p.Thr313= Multiple submitters Cardiovascular phenotype
• p.Thr395= Multiple submitters Legius syndrome
• p.Thr5= Multiple submitters Cardiovascular phenotype
• p.Thr7= Multiple submitters Legius syndrome
• p.Tyr187= Multiple submitters Cardiovascular phenotype
• p.Tyr211= Multiple submitters Cardiovascular phenotype
• p.Tyr420= Multiple submitters Cardiovascular phenotype
• p.Val17= Multiple submitters Cardiovascular phenotype
• p.Val20= Multiple submitters Cardiovascular phenotype
• p.Val229= Multiple submitters Cardiovascular phenotype
• p.Val336= Multiple submitters Legius syndrome
• p.Val408= Multiple submitters Cardiovascular phenotype
• c.207+11A>T Single submitter Legius syndrome
• c.207+12T>C Single submitter Legius syndrome
• c.207+13G>A Single submitter Legius syndrome
• c.207+16T>G Single submitter Legius syndrome
• c.207+19A>G Single submitter Legius syndrome
• c.208-10C>G Single submitter Legius syndrome
• c.208-11G>A Single submitter Legius syndrome
• c.208-12G>C Single submitter Legius syndrome
• c.32+12A>G Single submitter Legius syndrome
• c.32+13T>C Single submitter Legius syndrome
• c.32+14T>C Single submitter Legius syndrome
• c.32+162G>A Single submitter
• c.32+16A>G Single submitter Legius syndrome
• c.32+18C>G Single submitter Legius syndrome
• c.32+18C>T Single submitter Legius syndrome
• c.32+3_32+6dup Single submitter Legius syndrome
• c.32+9C>T Single submitter Legius syndrome
• c.33-13del Single submitter Legius syndrome
• c.33-14T>C Single submitter Legius syndrome
• c.33-7A>G Single submitter Legius syndrome
• c.376+10C>A Single submitter Legius syndrome
• c.376+14A>G Single submitter Legius syndrome
• c.376+17A>G Single submitter Legius syndrome
• c.376+19T>G Single submitter Legius syndrome
• c.376+9T>G Single submitter Legius syndrome
• c.377-12C>T Single submitter Legius syndrome
• c.377-16T>C Single submitter Legius syndrome
• c.377-16T>G Single submitter Legius syndrome
• c.377-19del Single submitter Legius syndrome
• c.377-201A>G Single submitter
• c.377-21_377-18del Single submitter Legius syndrome
• c.423+10G>T Single submitter Legius syndrome
• c.423+11G>A Single submitter Legius syndrome
• c.423+17A>G Single submitter Legius syndrome
• c.423+19G>A Single submitter Legius syndrome
• c.423+20G>A Single submitter Legius syndrome
• c.423+8A>G Single submitter Legius syndrome
• c.424-14G>A Single submitter Legius syndrome
• c.424-15G>A Single submitter Legius syndrome
• c.424-16G>A Single submitter Legius syndrome
• c.424-19T>C Single submitter Legius syndrome
• c.424-19T>G Single submitter Legius syndrome
• c.582+18T>C Single submitter Legius syndrome
• c.583-14T>C Single submitter
• c.583-15T>C Single submitter Legius syndrome
• c.583-18A>C Single submitter Legius syndrome
• c.583-20A>T Single submitter Legius syndrome
• c.583-8T>C Single submitter Legius syndrome
• c.684+10G>A Single submitter Legius syndrome
• c.684+133A>G Single submitter
• c.684+13A>G Single submitter Legius syndrome
• c.684+14G>A Single submitter Legius syndrome
• c.684+20C>G Single submitter Legius syndrome
• c.685-10T>G Single submitter Legius syndrome
• c.685-13G>A Single submitter Legius syndrome
• c.685-15_685-14del Single submitter Legius syndrome
• c.685-17A>T Single submitter Legius syndrome
• c.685-19T>C Single submitter
• c.-191C>T Single submitter Legius syndrome
• c.-294CT[2] Single submitter RASopathy
• c.-332G>A Single submitter
• c.*1040G>A Single submitter Legius syndrome
• c.*2018T>G Single submitter Legius syndrome
• c.*2247A>G Single submitter Legius syndrome
• c.*2570T>C Single submitter Legius syndrome
• c.*2611C>T Single submitter Legius syndrome
• c.*2885G>A Single submitter Legius syndrome
• c.*3623G>T Single submitter Legius syndrome
• c.*4372A>G Single submitter Legius syndrome
• c.*4697G>A Single submitter Legius syndrome
• c.*581T>C Single submitter Legius syndrome
• c.*633A>G Single submitter Legius syndrome
• p.Ala109= Single submitter Cardiovascular phenotype
• p.Ala119= Single submitter Cardiovascular phenotype
• p.Ala15= Single submitter
• p.Ala259= Single submitter Legius syndrome
• p.Ala276= Single submitter Cardiovascular phenotype
• p.Ala406= Single submitter Legius syndrome
• p.Ala443= Single submitter Legius syndrome
• p.Ala6= Single submitter Legius syndrome
• p.Arg184= Single submitter Legius syndrome
• p.Arg207= Single submitter Legius syndrome
• p.Arg214= Single submitter Cardiovascular phenotype
• p.Arg235= Single submitter Cardiovascular phenotype
• p.Arg24= Single submitter Cardiovascular phenotype
• p.Arg251= Single submitter Legius syndrome
• p.Arg325= Single submitter Cardiovascular phenotype
• p.Arg326= Single submitter Cardiovascular phenotype
• p.Arg341= Single submitter Legius syndrome
• p.Arg349= Single submitter Cardiovascular phenotype
• p.Arg428= Single submitter Cardiovascular phenotype
• p.Asn182= Single submitter Legius syndrome
• p.Asn227= Single submitter Cardiovascular phenotype
• p.Asn347= Single submitter Cardiovascular phenotype
• p.Asp11= Single submitter Cardiovascular phenotype
• p.Asp113= Single submitter Legius syndrome
• p.Asp26= Single submitter Cardiovascular phenotype
• p.Asp260= Single submitter Cardiovascular phenotype
• p.Asp275= Single submitter Cardiovascular phenotype
• p.Asp277= Single submitter Cardiovascular phenotype
• p.Asp329Gly Single submitter Cardiovascular phenotype ⚠
• p.Asp389= Single submitter Cardiovascular phenotype
• p.Asp57= Single submitter Cardiovascular phenotype
• p.Asp96= Single submitter Legius syndrome
• p.Cys220= Single submitter Cardiovascular phenotype
• p.Cys338= Single submitter Cardiovascular phenotype
• p.Cys362= Single submitter Cardiovascular phenotype
• p.Cys371= Single submitter Cardiovascular phenotype
• p.Cys418= Single submitter Legius syndrome
• p.Cys419= Single submitter Legius syndrome
• p.Cys435= Single submitter Cardiovascular phenotype
• p.Gln191= Single submitter Cardiovascular phenotype
• p.Gln215= Single submitter Cardiovascular phenotype
• p.Gln281His Single submitter Cardiovascular phenotype
• p.Gln353= Single submitter Cardiovascular phenotype
• p.Glu121= Single submitter Legius syndrome
• p.Glu129= Single submitter Cardiovascular phenotype
• p.Glu135= Single submitter Cardiovascular phenotype
• p.Glu242= Single submitter Cardiovascular phenotype
• p.Glu244= Single submitter Cardiovascular phenotype
• p.Glu272= Single submitter Cardiovascular phenotype
• p.Glu299= Single submitter Cardiovascular phenotype
• p.Glu328= Single submitter Cardiovascular phenotype
• p.Glu63= Single submitter Cardiovascular phenotype
• p.Glu73= Single submitter Cardiovascular phenotype
• p.Gly126= Single submitter Cardiovascular phenotype
• p.Gly221= Single submitter Cardiovascular phenotype
• p.Gly297= Single submitter Cardiovascular phenotype
• p.Gly36= Single submitter Legius syndrome
• p.Gly434= Single submitter Cardiovascular phenotype
• p.Gly444= Single submitter Legius syndrome
• p.Gly62= Single submitter Cardiovascular phenotype
• p.His236= Single submitter Cardiovascular phenotype
• p.His263= Single submitter Cardiovascular phenotype
• p.His344= Single submitter Cardiovascular phenotype
• p.His90= Single submitter Cardiovascular phenotype
• p.Ile234= Single submitter Cardiovascular phenotype
• p.Ile253= Single submitter Cardiovascular phenotype
• p.Ile363= Single submitter Cardiovascular phenotype
• p.Ile413= Single submitter Cardiovascular phenotype
• p.Leu140= Single submitter Cardiovascular phenotype
• p.Leu151= Single submitter Cardiovascular phenotype
• p.Leu223= Single submitter Cardiovascular phenotype
• p.Leu271= Single submitter Cardiovascular phenotype
• p.Leu34= Single submitter Legius syndrome
• p.Leu407= Single submitter Cardiovascular phenotype
• p.Leu76= Single submitter Legius syndrome
• p.Lys322= Single submitter Cardiovascular phenotype
• p.Lys399= Single submitter Cardiovascular phenotype
• p.Lys439= Single submitter Legius syndrome
• p.Lys46= Single submitter Cardiovascular phenotype
• p.Lys93= Single submitter Legius syndrome
• p.Lys98= Single submitter Cardiovascular phenotype
• p.Phe282= Single submitter Cardiovascular phenotype
• p.Phe311= Single submitter
• p.Phe342= Single submitter Legius syndrome
• p.Phe387= Single submitter Cardiovascular phenotype
• p.Phe400= Single submitter Legius syndrome
• p.Phe58= Single submitter Legius syndrome
• p.Pro167= Single submitter Cardiovascular phenotype
• p.Pro177= Single submitter Legius syndrome
• p.Pro285= Single submitter Legius syndrome
• p.Pro305= Single submitter Legius syndrome
• p.Pro305Leu Single submitter Cardiovascular phenotype
• p.Ser124= Single submitter Cardiovascular phenotype
• p.Ser148= Single submitter Legius syndrome
• p.Ser149= Single submitter Cardiovascular phenotype
• p.Ser170= Single submitter Legius syndrome
• p.Ser225= Single submitter Legius syndrome
• p.Ser278= Single submitter Cardiovascular phenotype
• p.Ser316= Single submitter Legius syndrome
• p.Ser367= Single submitter Cardiovascular phenotype
• p.Ser383= Single submitter Cardiovascular phenotype
• p.Ser392= Single submitter Cardiovascular phenotype
• p.Ser40= Single submitter Cardiovascular phenotype
• p.Ser41Cys Single submitter Cardiovascular phenotype
• p.Thr102= Single submitter Cardiovascular phenotype
• p.Thr161= Single submitter Cardiovascular phenotype
• p.Thr86= Single submitter Cardiovascular phenotype
• p.Thr88= Single submitter Cardiovascular phenotype
• p.Tyr168= Single submitter Cardiovascular phenotype
• p.Tyr294= Single submitter Cardiovascular phenotype
• p.Tyr337= Single submitter Legius syndrome
• p.Tyr377= Single submitter Cardiovascular phenotype
• p.Tyr82= Single submitter Cardiovascular phenotype
• p.Val152= Single submitter Cardiovascular phenotype
• p.Val162= Single submitter Legius syndrome
• p.Val21= Single submitter Cardiovascular phenotype
• p.Val212= Single submitter
• p.Val237= Single submitter Legius syndrome
• p.Val246= Single submitter Cardiovascular phenotype
• p.Val310= Single submitter Legius syndrome
• p.Val348Gly Single submitter Cardiovascular phenotype
• p.Val414= Single submitter Cardiovascular phenotype
• p.Val42= Single submitter Cardiovascular phenotype
• p.Val421= Single submitter Cardiovascular phenotype
• p.Val47= Single submitter Cardiovascular phenotype
• p.Val85= Single submitter Cardiovascular phenotype
• p.Cys429Arg No assertion criteria Noonan syndrome

Uncertain significance 637

Showing the top 300 by review status; the full set is in the sitemap.

• c.208-12G>A Multiple submitters Legius syndrome
• c.424-4A>G Multiple submitters Legius syndrome
• c.-2A>T Multiple submitters Noonan syndrome and Noonan-related syndrome
• c.*105A>G Multiple submitters Legius syndrome
• p.Ala137Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala142Ser Multiple submitters Legius syndrome ⚠
• p.Ala15Thr Multiple submitters Noonan syndrome and Noonan-related syndrome ⚠
• p.Ala183Asp Multiple submitters Legius syndrome ⚠
• p.Ala183Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ala19Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Ala406Thr Multiple submitters Legius syndrome ⚠
• p.Ala406Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ala443Pro Multiple submitters Legius syndrome ⚠
• p.Arg117Gln Multiple submitters Legius syndrome ⚠
• p.Arg118Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg169Gly Multiple submitters Legius syndrome ⚠
• p.Arg16Gln Multiple submitters Cardiovascular phenotype
• p.Arg16Gly Multiple submitters Legius syndrome ⚠
• p.Arg174Ile Multiple submitters Legius syndrome ⚠
• p.Arg18Gln Multiple submitters Legius syndrome ⚠
• p.Arg18Leu Multiple submitters Legius syndrome ⚠
• p.Arg207Thr Multiple submitters Legius syndrome ⚠
• p.Arg214Gln Multiple submitters Legius syndrome ⚠
• p.Arg214Trp Multiple submitters Cardiovascular phenotype ⚠
• p.Arg228Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Arg257His Multiple submitters Cardiovascular phenotype ⚠
• p.Arg325Gly Multiple submitters Legius syndrome
• p.Arg326Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Arg334Cys Multiple submitters Legius syndrome
• p.Arg334Leu Multiple submitters Legius syndrome ⚠
• p.Arg341Gly Multiple submitters Legius syndrome ⚠
• p.Arg341Ser Multiple submitters Legius syndrome ⚠
• p.Arg403Gln Multiple submitters Cardiovascular phenotype ⚠
• p.Arg428Cys Multiple submitters Legius syndrome ⚠
• p.Arg61Leu Multiple submitters Cardiovascular phenotype ⚠
• p.Arg64Gln Multiple submitters Legius syndrome ⚠
• p.Arg66Lys Multiple submitters Legius syndrome ⚠
• p.Asn10Asp Multiple submitters Legius syndrome ⚠
• p.Asn10Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Asn143Ser Multiple submitters Legius syndrome ⚠
• p.Asn182Lys Multiple submitters Legius syndrome ⚠
• p.Asp11Val Multiple submitters Legius syndrome ⚠
• p.Asp138Gly Multiple submitters Legius syndrome ⚠
• p.Asp180Tyr Multiple submitters Legius syndrome ⚠
• p.Asp180Val Multiple submitters Cardiovascular phenotype ⚠
• p.Asp203Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp241Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Asp25Gly Multiple submitters Legius syndrome ⚠
• p.Asp270Tyr Multiple submitters Legius syndrome ⚠
• p.Asp275Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.Asp277Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Asp286Asn Multiple submitters Legius syndrome ⚠
• p.Asp307Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Asp329Tyr Multiple submitters Cardiovascular phenotype ⚠
• p.Asp389Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Asp394Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Asp397Asn Multiple submitters Cardiovascular phenotype
• p.Asp398Tyr Multiple submitters Legius syndrome
• p.Asp57Gly Multiple submitters Legius syndrome ⚠
• p.Asp79Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Cys220Tyr Multiple submitters Legius syndrome ⚠
• p.Cys368Ser Multiple submitters Legius syndrome ⚠
• p.Cys433Tyr Multiple submitters Legius syndrome ⚠
• p.Cys74Phe Multiple submitters Legius syndrome ⚠
• p.Gln104Arg Multiple submitters Legius syndrome ⚠
• p.Gln189His Multiple submitters Cardiovascular phenotype ⚠
• p.Gln189Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Gln194Glu Multiple submitters Legius syndrome ⚠
• p.Gln194His Multiple submitters Legius syndrome ⚠
• p.Gln205Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Gln50Leu Multiple submitters Cardiovascular phenotype ⚠
• p.Glu129Val Multiple submitters Cardiovascular phenotype ⚠
• p.Glu135Gln Multiple submitters Legius syndrome ⚠
• p.Glu166Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Glu179Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu210Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Glu242Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu299Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Glu299Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Glu328Lys Multiple submitters Legius syndrome ⚠
• p.Glu345Gln Multiple submitters Cardiovascular phenotype
• p.Glu373Asp Multiple submitters Legius syndrome ⚠
• p.Glu52Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly100Val Multiple submitters Legius syndrome ⚠
• p.Gly136Arg Multiple submitters Legius syndrome ⚠
• p.Gly198Ala Multiple submitters Legius syndrome ⚠
• p.Gly201Val Multiple submitters Legius syndrome ⚠
• p.Gly330Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Gly430Ala Multiple submitters Legius syndrome ⚠
• p.Gly434Cys Multiple submitters Cardiovascular phenotype ⚠
• p.Gly434Val Multiple submitters Cardiovascular phenotype ⚠
• p.Gly438Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Gly54Ala Multiple submitters Legius syndrome ⚠
• p.Gly54Val Multiple submitters Cardiovascular phenotype ⚠
• p.His263Arg Multiple submitters ⚠
• p.Ile120Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ile173Val Multiple submitters Cardiovascular phenotype ⚠
• p.Ile195Lys Multiple submitters Cardiovascular phenotype ⚠
• p.Ile195Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Ile204Thr Multiple submitters Legius syndrome ⚠
• p.Ile234Val Multiple submitters Legius syndrome ⚠
• p.Ile245Thr Multiple submitters Legius syndrome ⚠
• p.Ile253Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Ile359Asn Multiple submitters Legius syndrome ⚠
• p.Ile363Val Multiple submitters Legius syndrome ⚠
• p.Ile413Thr Multiple submitters Cardiovascular phenotype
• p.Ile60Val Multiple submitters Legius syndrome ⚠
• p.Ile81Val Multiple submitters Legius syndrome ⚠
• p.Leu101Pro Multiple submitters Legius syndrome ⚠
• p.Leu151Val Multiple submitters Cardiovascular phenotype ⚠
• p.Leu202Ser Multiple submitters Legius syndrome ⚠
• p.Leu223Gln Multiple submitters Legius syndrome ⚠
• p.Leu293Val Multiple submitters Cardiovascular phenotype ⚠
• p.Leu302Phe Multiple submitters Cardiovascular phenotype ⚠
• p.Leu34Pro Multiple submitters SPRED1-related disorder ⚠
• p.Leu370Pro Multiple submitters Cardiovascular phenotype ⚠
• p.Leu39Val Multiple submitters Legius syndrome ⚠
• p.Leu407Met Multiple submitters Cardiovascular phenotype ⚠
• p.Leu410Ser Multiple submitters Cardiovascular phenotype ⚠
• p.Leu80Val Multiple submitters Cardiovascular phenotype ⚠
• p.Lys218Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Lys289Asn Multiple submitters Cardiovascular phenotype
• p.Lys289Thr Multiple submitters Legius syndrome ⚠
• p.Lys306Glu Multiple submitters Legius syndrome ⚠
• p.Lys321Asn Multiple submitters Cardiovascular phenotype
• p.Lys321Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Lys322Thr Multiple submitters Legius syndrome ⚠
• p.Lys360Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Lys46Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Lys84Glu Multiple submitters Cardiovascular phenotype ⚠
• p.Met188Lys Multiple submitters Legius syndrome ⚠
• p.Met188Thr Multiple submitters Legius syndrome ⚠
• p.Met209Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Met266Leu Multiple submitters Cardiovascular phenotype ⚠
• p.Met375Ile Multiple submitters Cardiovascular phenotype ⚠
• p.Met425Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Phe311Leu Multiple submitters Cardiovascular phenotype ⚠
• p.Phe342Tyr Multiple submitters Legius syndrome ⚠
• p.Phe400Tyr Multiple submitters Cardiovascular phenotype
• p.Pro128Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Pro167Thr Multiple submitters Cardiovascular phenotype ⚠
• p.Pro230Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Pro315Ser Multiple submitters Legius syndrome ⚠
• p.Pro356Gln Multiple submitters Legius syndrome ⚠
• p.Ser105Arg Multiple submitters Legius syndrome ⚠
• p.Ser150Tyr Multiple submitters Legius syndrome ⚠
• p.Ser165Gly Multiple submitters Legius syndrome ⚠
• p.Ser170Gly Multiple submitters Legius syndrome ⚠
• p.Ser176del Multiple submitters Cardiovascular phenotype
• p.Ser176Phe Multiple submitters Cardiovascular phenotype ⚠
• p.Ser217Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Ser222Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Ser222Asn Multiple submitters Legius syndrome ⚠
• p.Ser279Ile Multiple submitters Legius syndrome
• p.Ser28Gly Multiple submitters Cardiovascular phenotype ⚠
• p.Ser303Asn Multiple submitters Cardiovascular phenotype ⚠
• p.Ser333Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Ser383Pro Multiple submitters Legius syndrome
• p.Ser388Phe Multiple submitters Legius syndrome ⚠
• p.Ser411Phe Multiple submitters Cardiovascular phenotype ⚠
• p.Thr300Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Thr395Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Thr5Arg Multiple submitters Cardiovascular phenotype ⚠
• p.Thr7Ile Multiple submitters Cardiovascular phenotype ⚠
• p.Tyr14Cys Multiple submitters Legius syndrome ⚠
• p.Tyr168Asp Multiple submitters Cardiovascular phenotype ⚠
• p.Tyr211His Multiple submitters Legius syndrome ⚠
• p.Tyr258Cys Multiple submitters Legius syndrome ⚠
• p.Tyr294Phe Multiple submitters Legius syndrome ⚠
• p.Tyr364Cys Multiple submitters Cardiovascular phenotype
• p.Val152Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Val17Ala Multiple submitters Cardiovascular phenotype ⚠
• p.Val17Leu Multiple submitters Legius syndrome ⚠
• p.Val17Met Multiple submitters Legius syndrome ⚠
• p.Val20Leu Multiple submitters Legius syndrome ⚠
• p.Val229Ile Multiple submitters Cardiovascular phenotype ⚠
• p.Val229Phe Multiple submitters Cardiovascular phenotype ⚠
• p.Val366Ile Multiple submitters Legius syndrome ⚠
• c.207+2804T>G Single submitter
• c.207+3A>C Single submitter Legius syndrome
• c.207+5T>C Single submitter Legius syndrome
• c.207+6G>A Single submitter Legius syndrome
• c.208-9T>G Single submitter Legius syndrome
• c.32+20491C>T Single submitter
• c.32+3A>T Single submitter Legius syndrome
• c.32+6C>G Single submitter Legius syndrome
• c.32+6C>T Single submitter Legius syndrome
• c.33-15871_33-15870del Single submitter
• c.376+15C>A Single submitter Cardiovascular phenotype
• c.376+3A>G Single submitter Legius syndrome
• c.376+4G>A Single submitter Legius syndrome
• c.376+4G>C Single submitter Legius syndrome
• c.423+4A>C Single submitter Legius syndrome
• c.423+5_423+8del Single submitter Legius syndrome
• c.423+5G>A Single submitter Legius syndrome
• c.424-6312C>G Single submitter
• c.574_582+14dup Single submitter Legius syndrome
• c.582+4A>C Single submitter Legius syndrome
• c.583-11_583-8del Single submitter
• c.684+3A>C Single submitter Legius syndrome
• c.684+5G>A Single submitter Legius syndrome
• c.685-3_685-2insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTATCTGTTTCTTTTTT Single submitter Legius syndrome
• c.-114G>A Single submitter Legius syndrome
• c.-12G>C Single submitter
• c.-12G>T Single submitter
• c.-134C>T Single submitter
• c.-22A>C Single submitter
• c.-24A>G Single submitter Legius syndrome
• c.-294C>T Single submitter Legius syndrome
• c.-309C>T Single submitter Legius syndrome
• c.-87C>T Single submitter Legius syndrome
• c.*1095A>G Single submitter Legius syndrome
• c.*1337A>C Single submitter Legius syndrome
• c.*1400G>A Single submitter Legius syndrome
• c.*149G>A Single submitter Legius syndrome
• c.*1727G>T Single submitter Legius syndrome
• c.*1747A>C Single submitter Legius syndrome
• c.*1798A>C Single submitter Legius syndrome
• c.*1833A>C Single submitter Legius syndrome
• c.*1897C>T Single submitter Legius syndrome
• c.*1967C>T Single submitter Legius syndrome
• c.*2117A>G Single submitter Legius syndrome
• c.*2251G>A Single submitter Legius syndrome
• c.*2323T>C Single submitter Legius syndrome
• c.*2359G>C Single submitter Legius syndrome
• c.*2398T>G Single submitter Legius syndrome
• c.*2420T>C Single submitter Legius syndrome
• c.*2422A>G Single submitter Legius syndrome
• c.*2444T>A Single submitter Legius syndrome
• c.*2539A>T Single submitter Legius syndrome
• c.*2853A>G Single submitter Legius syndrome
• c.*2990T>C Single submitter Legius syndrome
• c.*3289C>T Single submitter Legius syndrome
• c.*3323C>T Single submitter Legius syndrome
• c.*3340G>A Single submitter Legius syndrome
• c.*3395G>A Single submitter Legius syndrome
• c.*3536C>G Single submitter Legius syndrome
• c.*3543C>T Single submitter Legius syndrome
• c.*3544G>A Single submitter Legius syndrome
• c.*3584G>A Single submitter Legius syndrome
• c.*3657C>T Single submitter Legius syndrome
• c.*3659A>G Single submitter Legius syndrome
• c.*3701A>G Single submitter Legius syndrome
• c.*3705A>G Single submitter Legius syndrome
• c.*383G>A Single submitter Legius syndrome
• c.*4046G>A Single submitter Legius syndrome
• c.*4744G>T Single submitter Legius syndrome
• c.*4822A>G Single submitter Legius syndrome
• c.*4987A>C Single submitter Legius syndrome
• c.*5232G>A Single submitter Legius syndrome
• c.*5263C>A Single submitter Legius syndrome
• c.*5418A>G Single submitter Legius syndrome
• c.*5440T>C Single submitter Legius syndrome
• c.*5449A>G Single submitter Legius syndrome
• c.*5540A>G Single submitter Legius syndrome
• c.*565A>C Single submitter Legius syndrome
• c.*578AT[11] Single submitter
• c.*632C>T Single submitter Legius syndrome
• c.*810A>G Single submitter Legius syndrome
• c.*936C>A Single submitter Legius syndrome
• p.Ala107Thr Single submitter Legius syndrome ⚠
• p.Ala119Pro Single submitter Legius syndrome ⚠
• p.Ala119Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala134Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala137Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala142Pro Single submitter Cardiovascular phenotype ⚠
• p.Ala183Ser Single submitter Cardiovascular phenotype ⚠
• p.Ala183Val Single submitter Legius syndrome ⚠
• p.Ala19Thr Single submitter Cardiovascular phenotype ⚠
• p.Ala276Gly Single submitter Legius syndrome ⚠
• p.Ala372Gly Single submitter Cardiovascular phenotype ⚠
• p.Ala432fs Single submitter
• p.Ala442Thr Single submitter Legius syndrome ⚠
• p.Ala56Val Single submitter Cardiovascular phenotype ⚠
• p.Ala6Gly Single submitter Legius syndrome ⚠
• p.Arg118Ser Single submitter ⚠
• p.Arg118Thr Single submitter Legius syndrome ⚠
• p.Arg16Leu Single submitter Legius syndrome ⚠
• p.Arg174Gly Single submitter Legius syndrome ⚠
• p.Arg185Gly Single submitter Legius syndrome ⚠
• p.Arg207Ser Single submitter Cardiovascular phenotype ⚠
• p.Arg228Ser Single submitter Legius syndrome ⚠
• p.Arg24Leu Single submitter
• p.Arg251Gly Single submitter Legius syndrome ⚠
• p.Arg256Cys Single submitter Legius syndrome ⚠
• p.Arg256Leu Single submitter Cardiovascular phenotype ⚠
• p.Arg256Ser Single submitter Legius syndrome ⚠
• p.Arg257Cys Single submitter Legius syndrome
• p.Arg257Leu Single submitter Cardiovascular phenotype ⚠
• p.Arg273Lys Single submitter Cardiovascular phenotype ⚠
• p.Arg325Gln Single submitter Legius syndrome ⚠
• p.Arg326Gly Single submitter Cardiovascular phenotype ⚠
• p.Arg332Cys Single submitter Legius syndrome ⚠
• p.Arg334Pro Single submitter Cardiovascular phenotype ⚠
• p.Arg349Trp Single submitter Cardiovascular phenotype ⚠
• p.Arg424fs Single submitter Legius syndrome
• p.Arg428Leu Single submitter Cardiovascular phenotype ⚠
• p.Arg61Ser Single submitter Cardiovascular phenotype ⚠
• p.Arg66Thr Single submitter Legius syndrome ⚠
• p.Asn10del Single submitter Legius syndrome