ANGPTL7

ANGPTL7 angiopoietin like 7

Annotation transcript: NM_021146.4

217 unique variant annotations were identified in 133 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
1-11249637-A-G c.1A>G p.M1? Missense 1/5 - 1
1-11249641-T-C c.5T>C p.L2P Missense 1/5 - 1
1-11249642-G-T c.6G>T p.L2= Synonymous 1/5 - 1
1-11249656-C-A c.20C>A p.S7* Nonsense 1/5 - 2
1-11249656-C-G c.20C>G p.S7* Nonsense 1/5 - 3
1-11249665-C-A c.29C>A p.T10N Missense 1/5 - 2
1-11249684-C-A c.48C>A p.I16= Synonymous 1/5 - 1
1-11249684-C-T c.48C>T p.I16= Synonymous 1/5 - 1
1-11249688-G-A c.52G>A p.A18T Missense 1/5 - 1
1-11249688-GC-AA c.52_53delinsAA p.A18N Missense 1/5 - 1
1-11249688-GCC-CAA c.52_54delinsCAA p.A18Q Missense 1/5 - 1
1-11249700-C-G c.64C>G p.H22D Missense 1/5 - 1
1-11249704-C-T c.68C>T p.P23L Missense 1/5 - 5
1-11249707-C-T c.71C>T p.A24V Missense 1/5 - 4
1-11249719-A-T c.83A>T p.K28M Missense 1/5 - 1
1-11249724-T-A c.88T>A p.S30T Missense 1/5 - 1
1-11249728-A-G c.92A>G p.K31R Missense 1/5 - 1
1-11249740-C-G c.104C>G p.P35R Missense 1/5 - 1
1-11249742-G-T c.106G>T p.A36S Missense 1/5 - 1
1-11249745-C-G c.109C>G p.Q37E Missense 1/5 - 1
1-11249758-A-G c.122A>G p.K41R Missense 1/5 - 1
1-11249760-GC-CT c.124_125delinsCT p.A42L Missense 1/5 - 1
1-11249761-C-T c.125C>T p.A42V Missense 1/5 - 2
1-11249763-G-A c.127G>A p.A43T Missense 1/5 - 2
1-11249764-C-T c.128C>T p.A43V Missense 1/5 - 2
1-11249766-A-T c.130A>T p.N44Y Missense 1/5 - 1
1-11249775-G-A c.139G>A p.E47K Missense 1/5 - 1
1-11249775-G-C c.139G>C p.E47Q Missense 1/5 - 1
1-11249789-G-T c.153G>T p.E51D Missense 1/5 - 2
1-11249796-GC-CT c.160_161delinsCT p.A54L Missense 1/5 - 1
1-11249803-T-C c.167T>C p.V56A Missense 1/5 - 2
1-11249823-CTG-TTT c.187_189delinsTTT p.L63F Missense 1/5 - 1
1-11249830-A-G c.194A>G p.E65G Missense 1/5 - 1
1-11249834-G-A c.198G>A p.L66= Synonymous 1/5 - 1
1-11249835-A-G c.199A>G p.N67D Missense 1/5 - 1
1-11249852-G-A c.216G>A p.R72= Synonymous 1/5 - 1
1-11249854-A-G c.218A>G p.D73G Missense 1/5 - 1
1-11249864-C-T c.228C>T p.S76= Synonymous 1/5 - 1
1-11249865-G-A c.229G>A p.V77M Missense 1/5 - 3
1-11249878-T-C c.242T>C p.V81A Missense 1/5 - 1
1-11249887-T-C c.251T>C p.L84P Missense 1/5 - 3
1-11249887-TG-T c.253del p.E85Rfs*21 Frameshift 1/5 - 1
1-11249905-G-A c.269G>A p.R90H Missense 1/5 - 3
1-11249905-G-C c.269G>C p.R90P Missense 1/5 - 1
1-11249909-G-A c.273G>A p.M91I Missense 1/5 - 1
1-11249914-C-T c.278C>T p.S93L Missense 1/5 - 1
1-11249915-G-A c.279G>A p.S93= Synonymous 1/5 - 1
1-11249915-G-C c.279G>C p.S93= Synonymous 1/5 - 1
1-11249915-G-T c.279G>T p.S93= Synonymous 1/5 - 1
1-11249916-C-A c.280C>A p.R94= Synonymous 1/5 - 1
1-11249916-C-T c.280C>T p.R94W Missense 1/5 - 3
1-11249918-G-A c.282G>A p.R94= Synonymous 1/5 - 1
1-11249918-G-C c.282G>C p.R94= Synonymous 1/5 - 1
1-11249918-G-T c.282G>T p.R94= Synonymous 1/5 - 1
1-11249921-C-A c.285C>A p.L95= Synonymous 1/5 - 1
1-11249922-A-G c.286A>G p.T96A Missense 1/5 - 1
1-11249931-G-A c.295G>A p.E99K Missense 1/5 - 1
1-11249931-G-C c.295G>C p.E99Q Missense 1/5 - 2
1-11249934-AG-CC c.298_299delinsCC p.S100P Missense 1/5 - 2
1-11249947-A-G c.311A>G p.E104G Missense 1/5 - 1
1-11249948-G-C c.312G>C p.E104D Missense 1/5 - 1
1-11249948-G-T c.312G>T p.E104D Missense 1/5 - 1
1-11249956-A-G c.320A>G p.N107S Missense 1/5 - 2
1-11249964-G-T c.328G>T p.D110Y Missense 1/5 - 1
1-11249969-C-A c.333C>A p.I111= Synonymous 1/5 - 1
1-11249969-C-T c.333C>T p.I111= Synonymous 1/5 - 1
1-11249970-A-G c.334A>G p.M112V Missense 1/5 - 1
1-11249972-G-A c.336G>A p.M112I Missense 1/5 - 1
1-11249977-T-G c.341T>G p.L114R Missense 1/5 - 1
1-11249979-C-T c.343C>T p.Q115* Nonsense 1/5 - 2
1-11249982-G-T c.346G>T p.A116S Missense 1/5 - 1
1-11249983-C-A c.347C>A p.A116E Missense 1/5 - 1
1-11249983-C-T c.347C>T p.A116V Missense 1/5 - 1
1-11249984-CA-C c.348del p.A117Hfs*105 Frameshift 1/5 - 1
1-11249985-AG-A c.349del p.A117Hfs*105 Frameshift 1/5 - 1
1-11249985-G-A c.349G>A p.A117T Missense 1/5 - 1
1-11249986-C-A c.350C>A p.A117E Missense 1/5 - 1
1-11249986-C-T c.350C>T p.A117V Missense 1/5 - 1
1-11249990-G-A c.354G>A p.Q118= Synonymous 1/5 - 2
1-11250000-C-G c.364C>G p.Q122E Missense 1/5 - 2
1-11250004-C-T c.368C>T p.T123I Missense 1/5 - 1
1-11250006-T-C c.370T>C p.S124P Missense 1/5 - 1
1-11250008-C-A c.372C>A p.S124= Synonymous 1/5 - 1
1-11250008-C-G c.372C>G p.S124= Synonymous 1/5 - 1
1-11250008-C-T c.372C>T p.S124= Synonymous 1/5 - 1
1-11250009-G-A c.373G>A p.A125T Missense 1/5 - 4
1-11250010-C-A c.374C>A p.A125E Missense 1/5 - 1
1-11250012-G-A c.376G>A p.D126N Missense 1/5 - 1
1-11252338-G-A c.388G>A p.D130N Missense 2/5 - 1
1-11252354-A-G c.404A>G p.Y135C Missense 2/5 - 1
1-11252357-A-G c.407A>G p.Q136R Missense 2/5 - 1
1-11252361-G-A c.411G>A p.K137= Synonymous 2/5 - 1
1-11252365-CTA-C c.415_416del p.Y139Pfs*7 Frameshift 2/5 - 1
1-11252369-G-A c.419G>A p.R140H Missense 2/5 - 13
1-11252375-C-T c.425C>T p.S142F Missense 2/5 - 1
1-11252386-A-C c.436A>C p.K146Q Missense 2/5 - 1
1-11252389-C-A c.439C>A p.L147I Missense 2/5 - 4
1-11252396-C-T c.446C>T p.P149L Missense 2/5 - 1
1-11252398-G-A c.448G>A p.D150N Missense 2/5 - 1
1-11252401-G-A c.451G>A p.D151N Missense 2/5 - 2
1-11253651-G-A c.492G>A p.M164I Missense 3/5 - 1
1-11253651-G-C c.492G>C p.M164I Missense 3/5 - 1
1-11253651-G-T c.492G>T p.M164I Missense 3/5 - 1
1-11253659-C-T c.500C>T p.S167L Missense 3/5 - 1
1-11253661-G-T c.502G>T p.G168C Missense 3/5 - 1
1-11253684-G-C c.525G>C p.Q175H Missense 3/5 - 4
1-11253688-C-T c.529C>T p.R177* Nonsense 3/5 - 3
1-11253689-G-A c.530G>A p.R177Q Missense 3/5 - 1
1-11253700-C-T c.541C>T p.L181F Missense 3/5 - 1
1-11253708-C-T c.549C>T p.S183= Synonymous 3/5 - 1
1-11253715-C-A c.556C>A p.R186= Synonymous 3/5 - 2
1-11253715-CGG-TGT c.556_558delinsTGT p.R186C Missense 3/5 - 1
1-11253715-C-T c.556C>T p.R186W Missense 3/5 - 1
1-11253717-G-C c.558G>C p.R186= Synonymous 3/5 - 1
1-11253717-G-T c.558G>T p.R186= Synonymous 3/5 - 1
1-11253717-G-A c.558G>A p.R186= Synonymous 3/5 - 3
1-11253721-T-A c.562T>A p.W188R Missense 3/5 - 1
1-11253721-T-C c.562T>C p.W188R Missense 3/5 - 1
1-11253721-T-G c.562T>G p.W188G Missense 3/5 - 1
1-11253722-G-A c.563G>A p.W188* Nonsense 3/5 - 5
1-11253723-G-A c.564G>A p.W188* Nonsense 3/5 - 4
1-11253733-A-C c.574A>C p.K192Q Missense 3/5 - 1
1-11253738-G-A c.579G>A p.Q193= Synonymous 3/5 - 1
1-11253739-G-C c.580G>C p.G194R Missense 3/5 - 1
1-11253754-C-A c.595C>A p.R199S Missense 3/5 - 1
1-11253754-C-T c.595C>T p.R199C Missense 3/5 - 3
1-11253755-G-A c.596G>A p.R199H Missense 3/5 - 2
1-11253755-GT-AA c.596_597delinsAA p.R199Q Missense 3/5 - 1
1-11253758-G-T c.599G>T p.G200V Missense 3/5 - 1
1-11253759-G-A c.600G>A p.G200= Synonymous 3/5 - 3
1-11253760-G-A c.601G>A p.D201N Missense 3/5 - 1
1-11253778-G-A c.619G>A p.E207K Missense 3/5 - 8
1-11253790-CGG-TGT c.631_633delinsTGT p.R211C Missense 3/5 - 1
1-11253791-G-A c.632G>A p.R211Q Missense 3/5 - 1
1-11253800-G-A c.641G>A p.R214K Missense 3/5 - 2
1-11253802-C-G c.643C>G p.Q215E Missense 3/5 - 1
1-11253805-C-T c.646C>T p.P216S Missense 3/5 - 1
1-11253811-C-A c.652C>A p.R218= Synonymous 3/5 - 1
1-11253813-G-C c.654G>C p.R218= Synonymous 3/5 - 1
1-11253813-G-T c.654G>T p.R218= Synonymous 3/5 - 1
1-11253813-G-A c.654G>A p.R218= Synonymous 3/5 - 2
1-11253818-G-A c.659G>A p.R220H Missense 3/5 - 1
1-11253823-G-A c.664G>A p.E222K Missense 3/5 - 1
1-11253828-G-T c.669G>T p.M223I Missense 3/5 - 1
1-11253831-G-A c.672G>A p.E224= Synonymous 3/5 - 2
1-11253832-G-A c.672+1G>A - IntronicSNV - 3/4 1
1-11254521-T-A c.676T>A p.W226R Missense 4/5 - 1
1-11254521-T-C c.676T>C p.W226R Missense 4/5 - 1
1-11254522-G-A c.677G>A p.W226* Nonsense 4/5 - 1
1-11254523-G-C c.678G>C p.W226C Missense 4/5 - 3
1-11254528-G-A c.683G>A p.G228D Missense 4/5 - 1
1-11254533-C-A c.688C>A p.L230M Missense 4/5 - 1
1-11254533-C-G c.688C>G p.L230V Missense 4/5 - 1
1-11254539-T-C c.694T>C p.Y232H Missense 4/5 - 1
1-11254541-C-T c.696C>T p.Y232= Synonymous 4/5 - 1
1-11254553-C-A c.708C>A p.S236R Missense 4/5 - 2
1-11254561-T-A c.716T>A p.V239D Missense 4/5 - 1
1-11254574-A-G c.729A>G p.E243= Synonymous 4/5 - 1
1-11254587-CGC-TGG c.742_744delinsTGG p.R248W Missense 4/5 - 1
1-11254587-C-T c.742C>T p.R248C Missense 4/5 - 3
1-11254588-G-A c.743G>A p.R248H Missense 4/5 - 5
1-11254590-C-T c.745C>T p.L249F Missense 4/5 - 2
1-11254592-C-A c.747C>A p.L249= Synonymous 4/5 - 1
1-11254592-C-G c.747C>G p.L249= Synonymous 4/5 - 1
1-11254592-C-T c.747C>T p.L249= Synonymous 4/5 - 2
1-11254595-C-T c.750C>T p.F250= Synonymous 4/5 - 2
1-11254600-G-A c.755G>A p.G252E Missense 4/5 - 4
1-11254597-T-TG c.756dup p.N253Efs*15 Frameshift 4/5 - 1
1-11254607-C-A c.762C>A p.Y254* Nonsense 4/5 - 1
1-11254607-C-G c.762C>G p.Y254* Nonsense 4/5 - 1
1-11254608-A-T c.763A>T p.T255S Missense 4/5 - 2
1-11254612-G-A c.767G>A p.G256D Missense 4/5 - 3
1-11254622-G-A c.777G>A p.G259= Synonymous 4/5 - 2
1-11254628-C-T c.783C>T p.D261= Synonymous 4/5 - 1
1-11254629-G-A c.784G>A p.A262T Missense 4/5 - 3
1-11254637-G-C c.792G>C p.Q264H Missense 4/5 - 3
1-11254637-G-T c.792G>T p.Q264H Missense 4/5 - 2
1-11254641-C-G c.796C>G p.H266D Missense 4/5 - 1
1-11254643-T-A c.798T>A p.H266Q Missense 4/5 - 1
1-11254643-TAAC-T c.803_805del p.N268del InFrameDeletion 4/5 - 1
1-11254668-G-A c.823G>A p.D275N Missense 4/5 - 2
1-11254673-G-A c.828G>A p.K276= Synonymous 4/5 - 4
1-11254674-G-A c.829G>A p.D277N Missense 4/5 - 5
1-11254684-A-G c.839A>G p.N280S Missense 4/5 - 1
1-11254687-G-A c.842G>A p.C281Y Missense 4/5 - 1
1-11254693-A-G c.848A>G p.D283G Missense 4/5 - 2
1-11254698-T-C c.853T>C p.C285R Missense 4/5 - 2
1-11254711-G-A c.866G>A p.R289H Missense 4/5 - 1
1-11254711-G-C c.866G>C p.R289P Missense 4/5 - 1
1-11254722-A-G c.871+6A>G - IntronicSNV - 4/4 1
1-11254914-G-A c.875G>A p.G292D Missense 5/5 - 1
1-11254917-A-G c.878A>G p.Y293C Missense 5/5 - 1
1-11254918-C-A c.879C>A p.Y293* Nonsense 5/5 - 1
1-11254918-C-G c.879C>G p.Y293* Nonsense 5/5 - 1
1-11254927-C-A c.888C>A p.N296K Missense 5/5 - 1
1-11254941-C-T c.902C>T p.S301F Missense 5/5 - 2
1-11254942-C-T c.903C>T p.S301= Synonymous 5/5 - 1
1-11254948-C-T c.909C>T p.L303= Synonymous 5/5 - 1
1-11254958-T-C c.919T>C p.Y307H Missense 5/5 - 1
1-11254960-C-CT c.922dup p.Y308Lfs*5 Frameshift 5/5 - 1
1-11254965-G-A c.926G>A p.R309H Missense 5/5 - 1
1-11254970-G-A c.931G>A p.G311S Missense 5/5 - 1
1-11254978-C-A c.939C>A p.H313Q Missense 5/5 - 1
1-11254978-C-G c.939C>G p.H313Q Missense 5/5 - 1
1-11254994-G-A c.955G>A p.G319S Missense 5/5 - 3
1-11254995-G-A c.956G>A p.G319D Missense 5/5 - 4
1-11255008-T-C c.969T>C p.Y323= Synonymous 5/5 - 3
1-11255018-G-A c.979G>A p.G327R Missense 5/5 - 2
1-11255018-G-C c.979G>C p.G327R Missense 5/5 - 2
1-11255025-C-T c.986C>T p.T329I Missense 5/5 - 1
1-11255040-G-A c.1001G>A p.R334Q Missense 5/5 - 1
1-11255041-G-A c.1002G>A p.R334= Synonymous 5/5 - 1
1-11255043-T-G c.1004T>G p.V335G Missense 5/5 - 1
1-11255050-G-A c.1011G>A p.M337I Missense 5/5 - 1
1-11255057-C-T c.1018C>T p.R340C Missense 5/5 - 2
1-11255058-G-A c.1019G>A p.R340H Missense 5/5 - 3
1-11255071-C-T c.1032C>T p.F344= Synonymous 5/5 - 2