LDLRAD2

LDLRAD2 low density lipoprotein receptor class A domain containing 2

Annotation transcript: NM_001013693.3

272 unique variant annotations were identified in 234 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
1-22138917-C-T c.-28C>T - 5-UTRSNV 1/5 - 1
1-22138963-C-T c.19C>T p.L7= Synonymous 1/5 - 1
1-22138966-C-T c.22C>T p.Q8* Nonsense 1/5 - 1
1-22138979-G-T c.35G>T p.R12M Missense 1/5 - 3
1-22138984-C-T c.40C>T p.L14F Missense 1/5 - 1
1-22138998-A-C c.54A>C p.A18= Synonymous 1/5 - 1
1-22138998-A-G c.54A>G p.A18= Synonymous 1/5 - 1
1-22138998-A-T c.54A>T p.A18= Synonymous 1/5 - 1
1-22139001-C-A c.57C>A p.A19= Synonymous 1/5 - 1
1-22139001-C-T c.57C>T p.A19= Synonymous 1/5 - 1
1-22139002-G-A c.58G>A p.A20T Missense 1/5 - 1
1-22139002-GC-AA c.58_59delinsAA p.A20N Missense 1/5 - 1
1-22139003-C-A c.59C>A p.A20D Missense 1/5 - 1
1-22139005-C-T c.61C>T p.L21= Synonymous 1/5 - 1
1-22139007-G-A c.63G>A p.L21= Synonymous 1/5 - 1
1-22139007-G-C c.63G>C p.L21= Synonymous 1/5 - 1
1-22139007-G-T c.63G>T p.L21= Synonymous 1/5 - 2
1-22139017-G-A c.73G>A p.A25T Missense 1/5 - 1
1-22139023-G-A c.79G>A p.E27K Missense 1/5 - 2
1-22139027-C-A c.83C>A p.T28K Missense 1/5 - 2
1-22139141-C-T c.85+112C>T - IntronicSNV - 1/4 1
1-22139797-A-T c.85+768A>T - IntronicSNV - 1/4 1
1-22140891-C-A c.86C>A p.A29D Missense 2/5 - 2
1-22140891-CC-AG c.86_87delinsAG p.A29E Missense 2/5 - 1
1-22140891-C-G c.86C>G p.A29G Missense 2/5 - 1
1-22140892-C-A c.87C>A p.A29= Synonymous 2/5 - 1
1-22140892-C-G c.87C>G p.A29= Synonymous 2/5 - 1
1-22140892-C-T c.87C>T p.A29= Synonymous 2/5 - 1
1-22140896-C-T c.91C>T p.L31= Synonymous 2/5 - 1
1-22140900-C-A c.95C>A p.A32E Missense 2/5 - 1
1-22140905-C-T c.100C>T p.L34= Synonymous 2/5 - 1
1-22140907-G-A c.102G>A p.L34= Synonymous 2/5 - 1
1-22140907-G-C c.102G>C p.L34= Synonymous 2/5 - 1
1-22140907-G-T c.102G>T p.L34= Synonymous 2/5 - 1
1-22140910-C-T c.105C>T p.C35= Synonymous 2/5 - 1
1-22140911-GGG-AGC c.106_108delinsAGC p.G36S Missense 2/5 - 1
1-22140914-C-G c.109C>G p.Q37E Missense 2/5 - 3
1-22140919-G-A c.114G>A p.T38= Synonymous 2/5 - 1
1-22140923-C-T c.118C>T p.Q40* Nonsense 2/5 - 1
1-22140931-C-A c.126C>A p.D42E Missense 2/5 - 1
1-22140931-C-T c.126C>T p.D42= Synonymous 2/5 - 1
1-22140944-CGC-TGG c.139_141delinsTGG p.R47W Missense 2/5 - 1
1-22140945-G-A c.140G>A p.R47H Missense 2/5 - 3
1-22140948-C-T c.143C>T p.S48L Missense 2/5 - 2
1-22140950-C-G c.145C>G p.H49D Missense 2/5 - 1
1-22140951-A-C c.146A>C p.H49P Missense 2/5 - 1
1-22140956-G-A c.151G>A p.A51T Missense 2/5 - 1
1-22140960-C-T c.155C>T p.S52L Missense 2/5 - 2
1-22140963-G-A c.158G>A p.R53H Missense 2/5 - 1
1-22140963-GC-AA c.158_159delinsAA p.R53Q Missense 2/5 - 1
1-22140964-C-T c.159C>T p.R53= Synonymous 2/5 - 2
1-22140969-T-C c.164T>C p.F55S Missense 2/5 - 1
1-22140975-T-G c.170T>G p.F57C Missense 2/5 - 1
1-22140976-C-T c.171C>T p.F57= Synonymous 2/5 - 1
1-22140990-C-T c.185C>T p.T62I Missense 2/5 - 1
1-22140995-TG-AC c.190_191delinsAC p.C64T Missense 2/5 - 1
1-22140997-C-T c.192C>T p.C64= Synonymous 2/5 - 3
1-22141007-G-A c.202G>A p.V68M Missense 2/5 - 1
1-22141013-G-A c.208G>A p.A70T Missense 2/5 - 2
1-22141014-C-T c.209C>T p.A70V Missense 2/5 - 3
1-22141016-G-C c.211G>C p.A71P Missense 2/5 - 1
1-22141017-C-T c.212C>T p.A71V Missense 2/5 - 1
1-22141020-C-T c.215C>T p.A72V Missense 2/5 - 2
1-22141024-C-A c.219C>A p.P73= Synonymous 2/5 - 2
1-22141024-C-G c.219C>G p.P73= Synonymous 2/5 - 2
1-22141024-C-T c.219C>T p.P73= Synonymous 2/5 - 2
1-22141030-C-T c.225C>T p.D75= Synonymous 2/5 - 7
1-22141031-C-A c.226C>A p.R76= Synonymous 2/5 - 1
1-22141033-G-A c.228G>A p.R76= Synonymous 2/5 - 1
1-22141033-G-C c.228G>C p.R76= Synonymous 2/5 - 1
1-22141033-G-T c.228G>T p.R76= Synonymous 2/5 - 1
1-22141032-G-A c.227G>A p.R76Q Missense 2/5 - 1
1-22141037-C-T c.232C>T p.R78C Missense 2/5 - 1
1-22141038-G-A c.233G>A p.R78H Missense 2/5 - 1
1-22141038-G-C c.233G>C p.R78P Missense 2/5 - 1
1-22141058-C-T c.253C>T p.L85= Synonymous 2/5 - 1
1-22141060-G-A c.255G>A p.L85= Synonymous 2/5 - 1
1-22141060-G-C c.255G>C p.L85= Synonymous 2/5 - 1
1-22141060-G-T c.255G>T p.L85= Synonymous 2/5 - 1
1-22141068-G-A c.263G>A p.S88N Missense 2/5 - 1
1-22141078-C-T c.273C>T p.P91= Synonymous 2/5 - 1
1-22141079-G-A c.274G>A p.A92T Missense 2/5 - 4
1-22141080-C-T c.275C>T p.A92V Missense 2/5 - 1
1-22141081-G-A c.276G>A p.A92= Synonymous 2/5 - 1
1-22141081-G-C c.276G>C p.A92= Synonymous 2/5 - 1
1-22141081-G-T c.276G>T p.A92= Synonymous 2/5 - 1
1-22141088-GC-TG c.283_284delinsTG p.A95W Missense 2/5 - 1
1-22141089-C-G c.284C>G p.A95G Missense 2/5 - 1
1-22141089-C-T c.284C>T p.A95V Missense 2/5 - 1
1-22141090-G-A c.285G>A p.A95= Synonymous 2/5 - 1
1-22141096-C-A c.291C>A p.N97K Missense 2/5 - 2
1-22141096-C-G c.291C>G p.N97K Missense 2/5 - 1
1-22141102-C-A c.297C>A p.S99= Synonymous 2/5 - 2
1-22141102-C-G c.297C>G p.S99= Synonymous 2/5 - 1
1-22141102-C-T c.297C>T p.S99= Synonymous 2/5 - 1
1-22141103-T-A c.298T>A p.S100T Missense 2/5 - 1
1-22141104-C-A c.299C>A p.S100Y Missense 2/5 - 1
1-22141106-C-T c.301C>T p.P101S Missense 2/5 - 1
1-22141108-G-A c.303G>A p.P101= Synonymous 2/5 - 1
1-22141114-G-A c.309G>A p.P103= Synonymous 2/5 - 1
1-22141115-G-A c.310G>A p.A104T Missense 2/5 - 5
1-22141118-G-A c.313G>A p.D105N Missense 2/5 - 3
1-22141121-C-G c.316C>G p.P106A Missense 2/5 - 1
1-22141121-C-T c.316C>T p.P106S Missense 2/5 - 1
1-22141124-T-C c.319T>C p.C107R Missense 2/5 - 1
1-22141127-G-A c.322G>A p.A108T Missense 2/5 - 2
1-22141128-C-T c.323C>T p.A108V Missense 2/5 - 1
1-22141129-C-A c.324C>A p.A108= Synonymous 2/5 - 1
1-22141129-C-G c.324C>G p.A108= Synonymous 2/5 - 1
1-22141129-C-T c.324C>T p.A108= Synonymous 2/5 - 1
1-22141135-C-CGGG c.330_331insGGG p.G110dup InFrameInsertion 2/5 - 1
1-22141136-T-C c.331T>C p.S111P Missense 2/5 - 2
1-22141139-T-TCGTAG c.334_335insCGTAG p.Y112Sfs*2 Frameshift 2/5 - 1
1-22141141-C-A c.336C>A p.Y112* Nonsense 2/5 - 2
1-22141141-C-T c.336C>T p.Y112= Synonymous 2/5 - 1
1-22141148-T-C c.343T>C p.F115L Missense 2/5 - 1
1-22141148-T-G c.343T>G p.F115V Missense 2/5 - 2
1-22141150-C-A c.345C>A p.F115L Missense 2/5 - 1
1-22141150-C-G c.345C>G p.F115L Missense 2/5 - 1
1-22141150-TCTACG-T c.345_349del p.F115Lfs*76 Frameshift 2/5 - 1
1-22141155-A-C c.350A>C p.E117A Missense 2/5 - 1
1-22141157-G-A c.352G>A p.G118S Missense 2/5 - 3
1-22141158-GGCC-G c.353_355del p.G118_P119delinsA MultiAAMissense 2/5 - 1
1-22141161-C-A c.356C>A p.P119Q Missense 2/5 - 2
1-22141162-G-A c.357G>A p.P119= Synonymous 2/5 - 1
1-22141162-G-C c.357G>C p.P119= Synonymous 2/5 - 1
1-22141162-G-T c.357G>T p.P119= Synonymous 2/5 - 1
1-22141164-C-T c.359C>T p.P120L Missense 2/5 - 1
1-22141165-G-A c.360G>A p.P120= Synonymous 2/5 - 1
1-22141165-G-C c.360G>C p.P120= Synonymous 2/5 - 1
1-22141165-G-T c.360G>T p.P120= Synonymous 2/5 - 1
1-22141167-G-A c.362G>A p.G121E Missense 2/5 - 1
1-22141168-G-A c.363G>A p.G121= Synonymous 2/5 - 1
1-22141173-C-T c.368C>T p.P123L Missense 2/5 - 1
1-22141187-T-C c.382T>C p.S128P Missense 2/5 - 1
1-22141190-C-T c.385C>T p.P129S Missense 2/5 - 1
1-22141192-A-C c.387A>C p.P129= Synonymous 2/5 - 1
1-22141192-A-G c.387A>G p.P129= Synonymous 2/5 - 1
1-22141192-A-T c.387A>T p.P129= Synonymous 2/5 - 1
1-22141199-G-T c.394G>T p.G132C Missense 2/5 - 1
1-22141200-G-A c.395G>A p.G132D Missense 2/5 - 1
1-22141202-C-T c.397C>T p.L133= Synonymous 2/5 - 1
1-22141204-G-A c.399G>A p.L133= Synonymous 2/5 - 1
1-22141204-G-C c.399G>C p.L133= Synonymous 2/5 - 1
1-22141204-G-T c.399G>T p.L133= Synonymous 2/5 - 1
1-22141206-A-C c.401A>C p.N134T Missense 2/5 - 31
1-22141206-A-G c.401A>G p.N134S Missense 2/5 - 5
1-22141207-C-T c.402C>T p.N134= Synonymous 2/5 - 1
1-22141213-G-A c.408G>A p.P136= Synonymous 2/5 - 1
1-22141213-G-C c.408G>C p.P136= Synonymous 2/5 - 1
1-22141213-G-T c.408G>T p.P136= Synonymous 2/5 - 1
1-22141223-G-A c.418G>A p.A140T Missense 2/5 - 1
1-22141247-C-A c.442C>A p.L148M Missense 2/5 - 1
1-22141274-C-A c.469C>A p.P157T Missense 2/5 - 1
1-22141277-C-A c.472C>A p.R158S Missense 2/5 - 1
1-22141279-C-T c.474C>T p.R158= Synonymous 2/5 - 1
1-22141294-C-T c.489C>T p.G163= Synonymous 2/5 - 1
1-22141295-G-A c.490G>A p.E164K Missense 2/5 - 2
1-22141309-C-T c.504C>T p.F168= Synonymous 2/5 - 1
1-22141312-T-C c.507T>C p.R169= Synonymous 2/5 - 1
1-22141322-GC-G c.511+6del - IntronicDeletion - 2/4 1
1-22141323-T-G c.511+7T>G - IntronicSNV - 2/4 1
1-22141983-T-C c.512-453T>C - IntronicSNV - 2/4 1
1-22142436-G-A c.512G>A p.G171E Missense 3/5 - 2
1-22142436-G-C c.512G>C p.G171A Missense 3/5 - 1
1-22142439-C-T c.515C>T p.P172L Missense 3/5 - 7
1-22142441-T-G c.517T>G p.C173G Missense 3/5 - 3
1-22142451-A-G c.527A>G p.Y176C Missense 3/5 - 1
1-22142456-C-G c.532C>G p.R178G Missense 3/5 - 4
1-22142457-G-T c.533G>T p.R178L Missense 3/5 - 1
1-22142463-A-C c.539A>C p.Q180P Missense 3/5 - 1
1-22142464-G-A c.540G>A p.Q180= Synonymous 3/5 - 1
1-22142465-A-G c.541A>G p.N181D Missense 3/5 - 1
1-22142474-T-C c.550T>C p.C184R Missense 3/5 - 2
1-22142474-T-G c.550T>G p.C184G Missense 3/5 - 4
1-22142479-C-G c.555C>G p.I185M Missense 3/5 - 1
1-22142479-C-T c.555C>T p.I185= Synonymous 3/5 - 2
1-22142484-C-T c.560C>T p.S187L Missense 3/5 - 1
1-22142497-T-C c.573T>C p.C191= Synonymous 3/5 - 3
1-22142502-C-T c.578C>T p.P193L Missense 3/5 - 1
1-22142503-C-A c.579C>A p.P193= Synonymous 3/5 - 1
1-22142507-G-A c.583G>A p.G195S Missense 3/5 - 2
1-22142525-G-A c.601G>A p.D201N Missense 3/5 - 2
1-22142540-G-GA c.616_617insA p.G206Efs*7 Frameshift 3/5 - 1
1-22142543-CT-C c.619del p.S207Pfs*28 Frameshift 3/5 - 1
1-22142550-CA-GT c.626_627delinsGT p.S209C Missense 3/5 - 1
1-22142623-T-C c.643+56T>C - IntronicSNV - 3/4 1
1-22146509-T-C c.644-1434T>C - IntronicSNV - 3/4 1
1-22147077-G-A c.644-866G>A - IntronicSNV - 3/4 1
1-22147077-G-C c.644-866G>C - IntronicSNV - 3/4 1
1-22147764-A-G c.644-179A>G - IntronicSNV - 3/4 4
1-22147943-G-T c.644G>T p.G215V Missense 4/5 - 3
1-22147944-T-A c.645T>A p.G215= Synonymous 4/5 - 1
1-22147944-T-C c.645T>C p.G215= Synonymous 4/5 - 1
1-22147944-T-G c.645T>G p.G215= Synonymous 4/5 - 1
1-22147948-T-G c.649T>G p.S217A Missense 4/5 - 1
1-22147953-G-A c.654G>A p.P218= Synonymous 4/5 - 1
1-22147953-G-C c.654G>C p.P218= Synonymous 4/5 - 1
1-22147953-G-T c.654G>T p.P218= Synonymous 4/5 - 1
1-22147956-G-T c.657G>T p.V219= Synonymous 4/5 - 2
1-22147959-C-A c.660C>A p.P220= Synonymous 4/5 - 1
1-22147969-G-A c.670G>A p.G224R Missense 4/5 - 1
1-22147970-GGA-G c.671_672del p.G224Efs*27 Frameshift 4/5 - 1
1-22147971-A-T c.672A>T p.G224= Synonymous 4/5 - 1
1-22147972-A-C c.673A>C p.S225R Missense 4/5 - 1
1-22147974-T-A c.675T>A p.S225R Missense 4/5 - 1
1-22147974-T-G c.675T>G p.S225R Missense 4/5 - 1
1-22147981-G-A c.682G>A p.A228T Missense 4/5 - 1
1-22147984-CAT-C c.687_688del p.T230Lfs*21 Frameshift 4/5 - 1
1-22147988-C-T c.689C>T p.T230I Missense 4/5 - 2
1-22147989-C-A c.690C>A p.T230= Synonymous 4/5 - 1
1-22147989-C-G c.690C>G p.T230= Synonymous 4/5 - 1
1-22147989-C-T c.690C>T p.T230= Synonymous 4/5 - 1
1-22147997-C-T c.698C>T p.S233F Missense 4/5 - 2
1-22148004-T-G c.705T>G p.T235= Synonymous 4/5 - 1
1-22148008-T-A c.709T>A p.S237T Missense 4/5 - 2
1-22148020-G-T c.721G>T p.G241W Missense 4/5 - 1
1-22148024-C-A c.725C>A p.S242Y Missense 4/5 - 1
1-22148028-A-C c.729A>C p.A243= Synonymous 4/5 - 1
1-22148028-A-G c.729A>G p.A243= Synonymous 4/5 - 1
1-22148028-A-T c.729A>T p.A243= Synonymous 4/5 - 1
1-22148030-G-A c.731G>A p.G244E Missense 4/5 - 3
1-22148043-T-C c.744T>C p.I248= Synonymous 4/5 - 2
1-22148047-G-A c.748G>A p.A250T Missense 4/5 - 1
1-22148053-A-T c.754A>T p.R252W Missense 4/5 - 1
1-22148060-C-T c.761C>T p.S254F Missense 4/5 - 3
1-22148069-G-T c.770G>T p.G257V Missense 4/5 - 1
1-22148081-C-G c.782C>G p.T261R Missense 4/5 - 1
1-22148082-G-A c.783G>A p.T261= Synonymous 4/5 - 2
1-22148082-G-C c.783G>C p.T261= Synonymous 4/5 - 1
1-22148082-G-T c.783G>T p.T261= Synonymous 4/5 - 1
1-22148087-A-G c.788A>G p.Q263R Missense 4/5 - 1
1-22148089-G-T c.790G>T p.D264Y Missense 4/5 - 2
1-22148091-C-T c.792C>T p.D264= Synonymous 4/5 - 2
1-22148092-G-A c.793G>A p.A265T Missense 4/5 - 4
1-22148092-G-C c.793G>C p.A265P Missense 4/5 - 1
1-22148095-G-C c.796G>C p.A266P Missense 4/5 - 4
1-22148101-G-A c.802G>A p.E268K Missense 4/5 - 3
1-22148104-G-A c.805G>A p.G269S Missense 4/5 - 1
1-22148164-G-A c.805+60G>A - IntronicSNV - 4/4 5
1-22148164-G-C c.805+60G>C - IntronicSNV - 4/4 5
1-22148167-C-T c.805+63C>T - IntronicSNV - 4/4 1
1-22148474-T-C c.806-221T>C - IntronicSNV - 4/4 4
1-22148698-C-G c.809C>G p.S270C Missense 5/5 - 1
1-22149073-G-A c.*365G>A - 3-UTRSNV 5/5 - 1
1-22149183-G-C c.*475G>C - 3-UTRSNV 5/5 - 2
1-22149183-G-T c.*475G>T - 3-UTRSNV 5/5 - 2
1-22149889-G-A c.*1181G>A - 3-UTRSNV 5/5 - 2
1-22149935-T-C c.*1227T>C - 3-UTRSNV 5/5 - 23
1-22149935-T-G c.*1227T>G - 3-UTRSNV 5/5 - 22
1-22150120-C-T c.*1412C>T - 3-UTRSNV 5/5 - 36
1-22150156-G-A c.*1448G>A - 3-UTRSNV 5/5 - 1
1-22150160-G-A c.*1452G>A - 3-UTRSNV 5/5 - 7
1-22150160-G-T c.*1452G>T - 3-UTRSNV 5/5 - 15
1-22150204-C-T c.*1496C>T - 3-UTRSNV 5/5 - 2
1-22150214-T-A c.*1506T>A - 3-UTRSNV 5/5 - 1
1-22150214-T-C c.*1506T>C - 3-UTRSNV 5/5 - 1
1-22150214-T-G c.*1506T>G - 3-UTRSNV 5/5 - 1
1-22150257-C-G c.*1549C>G - 3-UTRSNV 5/5 - 11
1-22150257-C-T c.*1549C>T - 3-UTRSNV 5/5 - 11
1-22150617-A-G c.*1909A>G - 3-UTRSNV 5/5 - 2
1-22150627-C-A c.*1919C>A - 3-UTRSNV 5/5 - 1
1-22150627-C-G c.*1919C>G - 3-UTRSNV 5/5 - 1
1-22150627-C-T c.*1919C>T - 3-UTRSNV 5/5 - 1
1-22150776-A-G c.*2068A>G - 3-UTRSNV 5/5 - 2
1-22150778-G-C c.*2070G>C - 3-UTRSNV 5/5 - 1
1-22150778-G-T c.*2070G>T - 3-UTRSNV 5/5 - 1
1-22151109-C-T c.*2401C>T - 3-UTRSNV 5/5 - 1
1-22151124-G-A c.*2416G>A - 3-UTRSNV 5/5 - 1
1-22151329-G-A c.*2621G>A - 3-UTRSNV 5/5 - 2
1-22151329-G-C c.*2621G>C - 3-UTRSNV 5/5 - 2
1-22151337-C-T c.*2629C>T - 3-UTRSNV 5/5 - 1