PNPLA3 patatin like phospholipase domain containing 3

Annotation transcript: NM_025225.3

151 unique variant annotations were identified in 445 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
22-44319752-C-G c.-40C>G - 5-UTRSNV 1/9 - 1
22-44319810-G-T c.19G>T p.G7C Missense 1/9 - 1
22-44319822-TCC-GAG c.31_33delinsGAG p.S11E Missense 1/9 - 1
22-44319822-TC-GA c.31_32inv p.S11D Missense 1/9 - 1
22-44319822-T-G c.31T>G p.S11A Missense 1/9 - 3
22-44319823-C-G c.32C>G p.S11C Missense 1/9 - 2
22-44319828-GCG-TGT c.37_39delinsTGT p.A13C Missense 1/9 - 1
22-44319837-G-C c.46G>C p.G16R Missense 1/9 - 1
22-44319847-G-C c.56G>C p.G19A Missense 1/9 - 1
22-44319858-G-A c.67G>A p.V23I Missense 1/9 - 1
22-44319865-C-A c.74C>A p.A25E Missense 1/9 - 1
22-44319873-TGC-GAG c.82_84delinsGAG p.C28E Missense 1/9 - 1
22-44319876-CTG-ATC c.85_87delinsATC p.L29I Missense 1/9 - 1
22-44319885-C-T c.94C>T p.H32Y Missense 1/9 - 1
22-44319925-G-A c.134G>A p.G45D Missense 1/9 - 1
22-44319930-T-G c.139T>G p.S47A Missense 1/9 - 15
22-44319934-CC-AG c.143_144delinsAG p.A48E Missense 1/9 - 1
22-44319950-C-G c.159C>G p.C53W Missense 1/9 - 1
22-44322841-CTT-ATG c.214_216delinsATG p.L72M Missense 2/9 - 1
22-44322862-C-T c.235C>T p.R79W Missense 2/9 - 1
22-44322883-C-T c.256C>T p.P86S Missense 2/9 - 1
22-44322901-A-G c.274A>G p.K92E Missense 2/9 - 1
22-44322909-C-A c.282C>A p.L94= Synonymous 2/9 - 1
22-44322909-C-G c.282C>G p.L94= Synonymous 2/9 - 1
22-44322909-C-T c.282C>T p.L94= Synonymous 2/9 - 1
22-44322922-T-A c.295T>A p.C99S Missense 2/9 - 1
22-44322922-T-C c.295T>C p.C99R Missense 2/9 - 1
22-44322922-T-G c.295T>G p.C99G Missense 2/9 - 2
22-44322943-G-A c.316G>A p.V106I Missense 2/9 - 1
22-44322946-C-A c.319C>A p.H107N Missense 2/9 - 1
22-44322955-A-C c.328A>C p.I110L Missense 2/9 - 1
22-44322970-G-T c.343G>T p.G115C Missense 2/9 - 3
22-44323006-G-A c.379G>A p.V127I Missense 2/9 - 1
22-44323025-G-A c.398G>A p.R133Q Missense 2/9 - 2
22-44323042-G-A c.415G>A p.V139M Missense 2/9 - 1
22-44323042-G-T c.415G>T p.V139L Missense 2/9 - 1
22-44323048-G-A c.420+1G>A - IntronicSNV - 2/8 1
22-44323070-C-T c.420+23C>T - IntronicSNV - 2/8 1
22-44323074-G-A c.420+27G>A - IntronicSNV - 2/8 2
22-44323219-A-C c.420+172A>C - IntronicSNV - 2/8 1
22-44323219-A-G c.420+172A>G - IntronicSNV - 2/8 1
22-44323955-T-A c.421-749T>A - IntronicSNV - 2/8 3
22-44323955-T-C c.421-749T>C - IntronicSNV - 2/8 3
22-44323955-T-G c.421-749T>G - IntronicSNV - 2/8 3
22-44324104-C-T c.421-600C>T - IntronicSNV - 2/8 1
22-44324181-G-A c.421-523G>A - IntronicSNV - 2/8 1
22-44324676-A-G c.421-28A>G - IntronicSNV - 2/8 11
22-44324718-C-T c.435C>T p.S145= Synonymous 3/9 - 1
22-44324725-AT-TG c.442_443delinsTG p.I148C Missense 3/9 - 1
22-44324727-C-A c.444C>A p.I148= Synonymous 3/9 - 1
22-44324727-C-G c.444C>G p.I148M Missense 3/9 - 1240
22-44324727-C-T c.444C>T p.I148= Synonymous 3/9 - 6
22-44324730-C-T c.447C>T p.P149= Synonymous 3/9 - 35
22-44324743-C-T c.460C>T p.L154F Missense 3/9 - 1
22-44324767-G-A c.484G>A p.V162M Missense 3/9 - 2
22-44324769-G-A c.486G>A p.V162= Synonymous 3/9 - 1
22-44324769-G-C c.486G>C p.V162= Synonymous 3/9 - 1
22-44324769-G-T c.486G>T p.V162= Synonymous 3/9 - 1
22-44324855-G-A c.486+86G>A - IntronicSNV - 3/8 11
22-44325631-C-T c.486+862C>T - IntronicSNV - 3/8 1
22-44325855-C-A c.486+1086C>A - IntronicSNV - 3/8 1
22-44325996-G-A c.486+1227G>A - IntronicSNV - 3/8 6
22-44325996-G-C c.486+1227G>C - IntronicSNV - 3/8 6
22-44325996-G-T c.486+1227G>T - IntronicSNV - 3/8 6
22-44327179-G-A c.487-1579G>A - IntronicSNV - 3/8 1
22-44328043-T-C c.487-715T>C - IntronicSNV - 3/8 3
22-44328730-G-A c.487-28G>A - IntronicSNV - 3/8 13
22-44328791-C-T c.520C>T p.P174S Missense 4/9 - 1
22-44328812-A-G c.541A>G p.T181A Missense 4/9 - 1
22-44328820-C-T c.549C>T p.T183= Synonymous 4/9 - 1
22-44328832-C-G c.561C>G p.F187L Missense 4/9 - 1
22-44328832-C-T c.561C>T p.F187= Synonymous 4/9 - 1
22-44328845-G-A c.574G>A p.D192N Missense 4/9 - 2
22-44328854-C-T c.583C>T p.P195S Missense 4/9 - 1
22-44328860-GTC-ATG c.589_591delinsATG p.V197M Missense 4/9 - 1
22-44328899-CTC-TGG c.628_630delinsTGG p.L210W Missense 4/9 - 1
22-44328908-C-G c.637C>G p.R213G Missense 4/9 - 1
22-44328911-C-T c.640C>T p.L214F Missense 4/9 - 1
22-44328930-A-G c.659A>G p.Y220C Missense 4/9 - 2
22-44328933-TT-AA c.662_663inv p.L221Q Missense 4/9 - 1
22-44328951-T-C c.680T>C p.V227A Missense 4/9 - 4
22-44329078-C-A c.696+111C>A - IntronicSNV - 4/8 4
22-44329078-C-T c.696+111C>T - IntronicSNV - 4/8 4
22-44329275-G-A c.696+308G>A - IntronicSNV - 4/8 1
22-44329275-G-T c.696+308G>T - IntronicSNV - 4/8 1
22-44330031-C-T c.697-455C>T - IntronicSNV - 4/8 1
22-44330128-T-C c.697-358T>C - IntronicSNV - 4/8 1
22-44330128-T-G c.697-358T>G - IntronicSNV - 4/8 1
22-44330481-C-A c.697-5C>A - IntronicSNV - 4/8 1
22-44330490-T-C c.701T>C p.L234P Missense 5/9 - 1
22-44330522-G-C c.733G>C p.A245P Missense 5/9 - 1
22-44331060-G-A c.757+514G>A - IntronicSNV - 5/8 1
22-44331060-G-C c.757+514G>C - IntronicSNV - 5/8 1
22-44331943-G-A c.758-988G>A - IntronicSNV - 5/8 1
22-44332570-G-A c.758-361G>A - IntronicSNV - 5/8 42
22-44332653-C-G c.758-278C>G - IntronicSNV - 5/8 4
22-44332878-C-A c.758-53C>A - IntronicSNV - 5/8 1
22-44332878-C-G c.758-53C>G - IntronicSNV - 5/8 1
22-44332878-C-T c.758-53C>T - IntronicSNV - 5/8 1
22-44332951-C-T c.778C>T p.P260S Missense 6/9 - 1
22-44332955-GC-AG c.782_783delinsAG p.G261E Missense 6/9 - 1
22-44332972-G-A c.799G>A p.E267K Missense 6/9 - 1
22-44332988-A-T c.815A>T p.E272V Missense 6/9 - 1
22-44332999-C-G c.826C>G p.P276A Missense 6/9 - 1
22-44333065-GGA-TGT c.892_894delinsTGT p.G298C Missense 6/9 - 1
22-44333069-A-G c.896A>G p.D299G Missense 6/9 - 1
22-44333069-A-T c.896A>T p.D299V Missense 6/9 - 1
22-44333086-C-A c.913C>A p.L305M Missense 6/9 - 1
22-44333122-CTG-TTT c.949_951delinsTTT p.L317F Missense 6/9 - 1
22-44333135-C-T c.962C>T p.S321L Missense 6/9 - 1
22-44333172-A-G c.979+20A>G - IntronicSNV - 6/8 6
22-44333694-T-G c.979+542T>G - IntronicSNV - 6/8 23
22-44334842-T-C c.980-1031T>C - IntronicSNV - 6/8 1
22-44335744-T-C c.980-129T>C - IntronicSNV - 6/8 1
22-44335885-A-G c.992A>G p.E331G Missense 7/9 - 1
22-44335894-A-C c.1001A>C p.D334A Missense 7/9 - 1
22-44335894-A-G c.1001A>G p.D334G Missense 7/9 - 1
22-44335895-C-A c.1002C>A p.D334E Missense 7/9 - 1
22-44335895-C-G c.1002C>G p.D334E Missense 7/9 - 1
22-44335899-G-A c.1006G>A p.G336S Missense 7/9 - 1
22-44336001-C-T c.1108C>T p.Q370* Nonsense 7/9 - 1
22-44336098-T-C c.1112+93T>C - IntronicSNV - 7/8 6
22-44336310-A-G c.1112+305A>G - IntronicSNV - 7/8 1
22-44337533-G-A c.1112+1528G>A - IntronicSNV - 7/8 2
22-44338134-T-C c.1112+2129T>C - IntronicSNV - 7/8 6
22-44338134-T-G c.1112+2129T>G - IntronicSNV - 7/8 6
22-44340618-A-G c.1160A>G p.Q387R Missense 8/9 - 1
22-44340642-C-G c.1184C>G p.T395S Missense 8/9 - 1
22-44340904-C-G c.1217+229C>G - IntronicSNV - 8/8 8
22-44340904-C-T c.1217+229C>T - IntronicSNV - 8/8 8
22-44341398-C-A c.1218-636C>A - IntronicSNV - 8/8 1
22-44341398-C-T c.1218-636C>T - IntronicSNV - 8/8 1
22-44341986-T-C c.1218-48T>C - IntronicSNV - 8/8 1
22-44341986-T-G c.1218-48T>G - IntronicSNV - 8/8 1
22-44342111-C-T c.1295C>T p.S432F Missense 9/9 - 1
22-44342116-A-G c.1300A>G p.K434E Missense 9/9 - 36
22-44342150-C-T c.1334C>T p.T445I Missense 9/9 - 1
22-44342153-C-T c.1337C>T p.P446L Missense 9/9 - 77
22-44342156-G-A c.1340G>A p.R447Q Missense 9/9 - 1
22-44342174-G-T c.1358G>T p.S453I Missense 9/9 - 39
22-44342175-C-G c.1359C>G p.S453R Missense 9/9 - 1
22-44342175-C-T c.1359C>T p.S453= Synonymous 9/9 - 1
22-44342180-A-G c.1364A>G p.N455S Missense 9/9 - 1
22-44342236-AGT-TGA c.1420_1422delinsTGA p.S474* Nonsense 9/9 - 1
22-44342313-C-G c.*51C>G - 3-UTRSNV 9/9 - 1
22-44342313-C-T c.*51C>T - 3-UTRSNV 9/9 - 1
22-44342325-C-T c.*63C>T - 3-UTRSNV 9/9 - 2
22-44342394-T-A c.*132T>A - 3-UTRSNV 9/9 - 1
22-44342394-T-C c.*132T>C - 3-UTRSNV 9/9 - 1
22-44342655-G-C c.*393G>C - 3-UTRSNV 9/9 - 1
22-44342691-T-C c.*429T>C - 3-UTRSNV 9/9 - 1