All variants in the PNPLA2 gene

Information The variants shown are described using the NM_020376.3 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.-145-88T>C r.(=) p.(=) - benign g.819486T>C - PNPLA2(NM_020376.4):c.-145-88T>C - EFCAB4A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-145-10G>T r.(=) p.(=) - likely benign g.819564G>T - PNPLA2(NM_020376.4):c.-145-10G>T - EFCAB4A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.122C>T r.(?) p.(Thr41Met) - likely benign g.819840C>T g.819840C>T PNPLA2(NM_020376.3):c.122C>T (p.T41M) - EFCAB4A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.236G>A r.(?) p.(Arg79Gln) - likely benign g.821676G>A g.821676G>A PNPLA2(NM_020376.3):c.236G>A (p.R79Q, p.(Arg79Gln)), PNPLA2(NM_020376.4):c.236G>A (p.R79Q) - PNPLA2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.236G>A r.(?) p.(Arg79Gln) - VUS g.821676G>A g.821676G>A PNPLA2(NM_020376.3):c.236G>A (p.R79Q, p.(Arg79Gln)), PNPLA2(NM_020376.4):c.236G>A (p.R79Q) - PNPLA2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.236G>A r.(?) p.(Arg79Gln) - VUS g.821676G>A g.821676G>A - - PNPLA2_000002 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139576982 Germline - 3/2794 individuals - - - Mohammed Faruq
?/. - c.236G>A r.(?) p.(Arg79Gln) - VUS g.821676G>A - PNPLA2(NM_020376.3):c.236G>A (p.R79Q, p.(Arg79Gln)), PNPLA2(NM_020376.4):c.236G>A (p.R79Q) - PNPLA2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.326A>G r.(?) p.(His109Arg) - likely benign g.821766A>G g.821766A>G PNPLA2(NM_020376.3):c.326A>G (p.H109R) - EFCAB4A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.338G>A r.(?) p.(Arg113His) - VUS g.821778G>A - PNPLA2(NM_020376.3):c.338G>A (p.(Arg113His)) - EFCAB4A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.369C>T r.(?) p.(Asp123=) - likely benign g.821809C>T g.821809C>T PNPLA2(NM_020376.3):c.369C>T (p.D123=) - EFCAB4A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.487-8C>T r.(=) p.(=) - likely benign g.822389C>T - PNPLA2(NM_020376.3):c.487-8C>T - EFCAB4A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.487C>T r.(?) p.(Arg163Cys) - VUS g.822397C>T - PNPLA2(NM_020376.4):c.487C>T (p.(Arg163Cys)) - EFCAB4A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.584C>T r.(?) p.(Pro195Leu) - pathogenic (recessive) g.822494C>T - - - PNPLA2_000013 - PubMed: Avila-Smirnow 2020 - - Germline - - - - - Johan den Dunnen
+/. - c.584C>T r.(?) p.(Pro195Leu) - pathogenic (recessive) g.822494C>T g.822494C>T - - PNPLA2_000013 - PubMed: Marti 2025 - - Germline - - - - - Johan den Dunnen
+/. - c.613dup r.(?) p.(Leu205Profs*102) - pathogenic g.822523dup - PNPLA2(NM_020376.4):c.613dupC (p.L205Pfs*102) - EFCAB4A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.695del r.(?) p.(Leu232Argfs*24) - pathogenic g.822605del - - - EFCAB4A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.696+16A>G r.(=) p.(=) - benign g.822622A>G g.822622A>G PNPLA2(NM_020376.4):c.696+16A>G - PNPLA2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.696+16A>G r.(=) p.(=) - benign g.822622A>G g.822622A>G PNPLA2(NM_020376.4):c.696+16A>G - PNPLA2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.697G>A r.(?) p.(Val233Met) - VUS g.823527G>A g.823527G>A - - EFCAB4A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.726C>T r.(?) p.(Tyr242=) - likely benign g.823556C>T g.823556C>T - - EFCAB4A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.747G>A r.(=) p.(=) - VUS g.823577G>A g.823577G>A - - PNPLA2_000001 - - - - Germline - - - - - Andreas Laner
?/. - c.755A>T r.(?) p.(Asn252Ile) - VUS g.823585A>T g.823585A>T - - EFCAB4A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.756C>G r.(?) p.(Asn252Lys) - likely benign g.823586C>G g.823586C>G PNPLA2(NM_020376.4):c.756C>G (p.N252K) - PNPLA2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.757+16C>T r.(=) p.(=) - likely benign g.823603C>T g.823603C>T - - PNPLA2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.793C>T r.(?) p.(Pro265Ser) - likely benign g.823729C>T g.823729C>T PNPLA2(NM_020376.4):c.793C>T (p.(Pro265Ser), p.P265S) - PNPLA2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.793C>T r.(?) p.(Pro265Ser) - likely benign g.823729C>T g.823729C>T PNPLA2(NM_020376.4):c.793C>T (p.(Pro265Ser), p.P265S) - PNPLA2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.799G>C r.(?) p.(Ala267Pro) - likely benign g.823735G>C g.823735G>C PNPLA2(NM_020376.3):c.799G>C (p.(Ala267Pro)) - EFCAB4A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.803G>C r.(?) p.(Arg268Pro) - likely benign g.823739G>C g.823739G>C PNPLA2(NM_020376.3):c.803G>C (p.(Arg268Pro)) - EFCAB4A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.809A>C r.(?) p.(His270Pro) - likely benign g.823745A>C g.823745A>C PNPLA2(NM_020376.3):c.809A>C (p.(His270Pro)) - EFCAB4A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.809_812del r.(?) p.(His270ProfsTer49) - likely benign g.823745_823748del g.823745_823748del PNPLA2(NM_020376.3):c.809_812del (p.(His270ProfsTer49)) - EFCAB4A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.815C>G r.(?) p.(Pro272Arg) - VUS g.823751C>G - PNPLA2(NM_020376.4):c.815C>G (p.(Pro272Arg)) - EFCAB4A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.873C>G r.(?) p.(Pro291=) - benign g.823809C>G g.823809C>G PNPLA2(NM_020376.4):c.873C>G (p.P291=) - PNPLA2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.873C>G r.(?) p.(Pro291=) - benign g.823809C>G - PNPLA2(NM_020376.4):c.873C>G (p.P291=) - PNPLA2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.919+4C>T r.spl? p.? - likely benign g.823859C>T g.823859C>T PNPLA2(NM_020376.3):c.919+4C>T (p.?), PNPLA2(NM_020376.4):c.919+4C>T - PNPLA2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.919+4C>T r.spl? p.? - likely benign g.823859C>T - PNPLA2(NM_020376.3):c.919+4C>T (p.?), PNPLA2(NM_020376.4):c.919+4C>T - PNPLA2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.943C>T r.(?) p.(Pro315Ser) - likely benign g.824021C>T g.824021C>T - - EFCAB4A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1175+3G>A r.spl? p.? - likely benign g.824439G>A - PNPLA2(NM_020376.4):c.1175+3G>A - EFCAB4A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1196T>G r.(?) p.(Leu399Arg) ACMG VUS g.824543T>G g.824543T>G c.1196_1200delinsGGCGG p.(Leu399Arg) het - PNPLA2_000011 - - - - Germline - - - - - Andreas Laner
?/. - c.1200C>G r.(?) p.(Arg400=) ACMG VUS g.824547C>G g.824547C>G c.1196_1200delinsGGCGG p.(Leu399Arg) het - PNPLA2_000012 - - - - Germline - - - - - Andreas Laner
-?/. - c.1220C>T r.(?) p.(Ser407Phe) - likely benign g.824567C>T - PNPLA2(NM_020376.3):c.1220C>T (p.(Ser407Phe)) - EFCAB4A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1430C>T r.(?) p.(Pro477Leu) - likely benign g.824777C>T - PNPLA2(NM_020376.3):c.1430C>T (p.P477L) - EFCAB4A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1442T>C r.(?) p.(Leu481Pro) - benign g.824789T>C g.824789T>C PNPLA2(NM_020376.4):c.1442T>C (p.L481P) - PNPLA2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1442T>C r.(?) p.(Leu481Pro) - benign g.824789T>C g.824789T>C PNPLA2(NM_020376.4):c.1442T>C (p.L481P) - PNPLA2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1447G>C r.(?) p.(Gly483Arg) - likely benign g.824794G>C g.824794G>C PNPLA2(NM_020376.3):c.1447G>C (p.(Gly483Arg)) - EFCAB4A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1458C>T r.(?) p.(Pro486=) - benign g.824805C>T g.824805C>T - - PNPLA2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*4616_*4618dup r.(=) p.(=) - likely benign g.829478_829480dup g.829478_829480dup EFCAB4A(NM_173584.4):c.387_388insGAG (p.(Asp129_Glu130insGlu)) - CD151_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*5847G>C r.(=) p.(=) - likely benign g.830709G>C g.830709G>C EFCAB4A(NM_173584.4):c.782G>C (p.(Arg261Pro)) - CD151_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*6672G>C r.(=) p.(=) - VUS g.831534G>C g.831534G>C EFCAB4A(NM_173584.4):c.859-1G>C (p.?) - CD151_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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