All variants in the DIS3L2 gene

Information The variants shown are described using the NM_152383.4 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
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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.33G>A r.(?) p.(Arg11=) - likely benign g.232879670G>A g.232014960G>A DIS3L2(NM_152383.4):c.33G>A (p.R11=) - DIS3L2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.34C>A r.(?) p.(Pro12Thr) - likely benign g.232879671C>A g.232014961C>A DIS3L2(NM_152383.4):c.34C>A (p.P12T) - DIS3L2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.34C>T r.(?) p.(Pro12Ser) - likely benign g.232879671C>T g.232014961C>T DIS3L2(NM_001257281.1):c.34C>T (p.(Pro12Ser)) - DIS3L2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.108G>A r.(?) p.(Lys36=) - likely benign g.232880279G>A g.232015569G>A DIS3L2(NM_152383.4):c.108G>A (p.K36=) - DIS3L2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.211-9del r.(=) p.(=) - likely benign g.232888978del g.232024268del DIS3L2(NM_152383.4):c.211-9delG - DIS3L2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.263C>T r.(?) p.(Pro88Leu) - likely benign g.232889039C>T g.232024329C>T DIS3L2(NM_001257281.1):c.263C>T (p.(Pro88Leu)) - DIS3L2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.301G>T r.(?) p.(Ala101Ser) - likely benign g.232894725G>T g.232030015G>T DIS3L2(NM_152383.4):c.301G>T (p.A101S) - DIS3L2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 6 c.367-41553_602+40962del r.(?) p.(Val123Glufs*136) - likely pathogenic g.232910644_233036291del g.232045934_232171581del - - DIS3L2_000001 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Astuti 2012 - - Germline - - - 0 - Gerard C.P. Schaafsma
+?/. 6 c.367-41553_602+40962del r.(?) p.(Val123Glufs*136) - likely pathogenic g.232910644_233036291del g.232045934_232171581del - - DIS3L2_000001 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Astuti 2012 - - Germline - - - 0 - Gerard C.P. Schaafsma
-?/. - c.367-13C>T r.(=) p.(=) - likely benign g.232952184C>T g.232087474C>T - - DIS3L2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.367-6C>T r.(=) p.(=) - likely benign g.232952191C>T g.232087481C>T DIS3L2(NM_152383.4):c.367-6C>T - DIS3L2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.426C>T r.(?) p.(Pro142=) - benign g.232952256C>T g.232087546C>T DIS3L2(NM_001257281.1):c.426C>T (p.(Pro142=)), DIS3L2(NM_152383.4):c.426C>T (p.P142=) - DIS3L2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.426C>T r.(?) p.(Pro142=) - benign g.232952256C>T g.232087546C>T DIS3L2(NM_001257281.1):c.426C>T (p.(Pro142=)), DIS3L2(NM_152383.4):c.426C>T (p.P142=) - DIS3L2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.448C>T r.(?) p.(Leu150Phe) - likely benign g.232952278C>T g.232087568C>T - - DIS3L2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.453G>A r.(?) p.(Pro151=) - likely benign g.232952283G>A g.232087573G>A - - DIS3L2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.541dup r.(?) p.(Ile181Asnfs*8) - likely pathogenic g.232952371dup - DIS3L2(NM_152383.4):c.541dupA (p.I181Nfs*8) - DIS3L2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.593C>T r.(?) p.(Ser198Phe) - likely benign g.232952423C>T g.232087713C>T - - DIS3L2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.685C>G r.(?) p.(Leu229Val) - likely benign g.232995412C>G g.232130702C>G DIS3L2(NM_152383.4):c.685C>G (p.L229V) - DIS3L2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.702+10T>G r.(=) p.(=) - likely benign g.232995439T>G g.232130729T>G DIS3L2(NM_001257282.1):c.712T>G (p.Y238D), DIS3L2(NM_152383.4):c.702+10T>G - DIS3L2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.702+10T>G r.(=) p.(=) - likely benign g.232995439T>G g.232130729T>G DIS3L2(NM_001257282.1):c.712T>G (p.Y238D), DIS3L2(NM_152383.4):c.702+10T>G - DIS3L2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.702+39T>G r.(=) p.(=) - likely benign g.232995468T>G g.232130758T>G DIS3L2(NM_001257282.1):c.741T>G (p.A247=) - DIS3L2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.727C>A r.(?) p.(His243Asn) - VUS g.233001206C>A - DIS3L2(NM_001257281.1):c.727C>A (p.(His243Asn)) - DIS3L2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.795C>T r.(?) p.(Tyr265=) - likely benign g.233001274C>T - DIS3L2(NM_001257281.1):c.795C>T (p.(=)) - DIS3L2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.803T>C r.(?) p.(Phe268Ser) - VUS g.233001282T>C - DIS3L2(NM_152383.4):c.803T>C (p.F268S) - DIS3L2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.874C>T r.(?) p.(Arg292Trp) - VUS g.233001353C>T g.232136643C>T DIS3L2(NM_152383.4):c.874C>T (p.R292W) - DIS3L2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.933C>G r.(?) p.(Asp311Glu) - likely benign g.233001412C>G - DIS3L2(NM_001257281.1):c.933C>G (p.(Asp311Glu)) - DIS3L2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. ? c.951-?_1124+?del r.(?) p.(Gln318_Arg375del) - likely pathogenic g.233028169_233028342del g.232163459_232163632del - - DIS3L2_000004 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Astuti 2012 - - Germline - - - 0 - Gerard C.P. Schaafsma
+?/. 9 c.951-?_1124+?del r.(?) p.(Gln318_Arg375del) - likely pathogenic g.233028169_233028342del g.232163459_232163632del - - DIS3L2_000002 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Astuti 2012 - - Germline - - - 0 - Gerard C.P. Schaafsma
+?/. 9 c.951-?_1124+?del r.(?) p.(Gln318_Arg375del) - likely pathogenic g.233028169_233028342del g.232163459_232163632del - - DIS3L2_000002 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Astuti 2012 - - Germline - - - 0 - Gerard C.P. Schaafsma
-/. - c.1170C>T r.(?) p.(Leu390=) - benign g.233075081C>T g.232210371C>T DIS3L2(NM_001257281.1):c.1170C>T (p.(Leu390=)), DIS3L2(NM_152383.4):c.1170C>T (p.L390=) - DIS3L2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1170C>T r.(?) p.(Leu390=) - benign g.233075081C>T - DIS3L2(NM_001257281.1):c.1170C>T (p.(Leu390=)), DIS3L2(NM_152383.4):c.1170C>T (p.L390=) - DIS3L2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1448G>A r.(?) p.(Arg483Gln) - benign g.233127939G>A g.232263229G>A DIS3L2(NM_152383.4):c.1448G>A (p.R483Q) - DIS3L2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1448G>A r.(?) p.(Arg483Gln) - likely benign g.233127939G>A g.232263229G>A - - DIS3L2_000017 126 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs148474013 Germline - 126/2794 individuals - 0 - Mohammed Faruq
+?/. ? c.1466G>A r.(?) p.(Cys489Tyr) - likely pathogenic g.233127957G>A g.232263247G>A - - DIS3L2_000005 - PubMed: Astuti 2012 - - Germline - - - 0 - Gerard C.P. Schaafsma
-?/. - c.1485G>A r.(?) p.(Glu495=) - likely benign g.233127976G>A g.232263266G>A DIS3L2(NM_152383.4):c.1485G>A (p.E495=) - DIS3L2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1488T>C r.(?) p.(His496=) - benign g.233127979T>C g.232263269T>C DIS3L2(NM_001257281.1):c.1488T>C (p.(His496=)), DIS3L2(NM_152383.4):c.1488T>C (p.H496=) - DIS3L2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1488T>C r.(?) p.(His496=) - likely benign g.233127979T>C - DIS3L2(NM_001257281.1):c.1488T>C (p.(His496=)), DIS3L2(NM_152383.4):c.1488T>C (p.H496=) - DIS3L2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1684C>T r.(?) p.(His562Tyr) - likely benign g.233164774C>T g.232300064C>T DIS3L2(NM_001257281.1):c.1581+36702C>T (p.(=)), DIS3L2(NM_152383.4):c.1684C>T (p.H562Y) - DIS3L2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.1684C>T r.(?) p.(His562Tyr) - VUS g.233164774C>T g.232300064C>T DIS3L2(NM_001257281.1):c.1581+36702C>T (p.(=)), DIS3L2(NM_152383.4):c.1684C>T (p.H562Y) - DIS3L2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1727G>A r.(?) p.(Arg576His) - likely benign g.233164817G>A g.232300107G>A DIS3L2(NM_001257281.1):c.1581+36745G>A (p.(=)), DIS3L2(NM_152383.4):c.1727G>A (p.R576H) - DIS3L2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1727G>A r.(?) p.(Arg576His) - VUS g.233164817G>A g.232300107G>A DIS3L2(NM_001257281.1):c.1581+36745G>A (p.(=)), DIS3L2(NM_152383.4):c.1727G>A (p.R576H) - DIS3L2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1740-20A>C r.(=) p.(=) - likely benign g.233194503A>C g.232329793A>C DIS3L2(NM_152383.4):c.1740-20A>C - DIS3L2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1740-15A>C r.(=) p.(=) - likely benign g.233194508A>C g.232329798A>C DIS3L2(NM_152383.4):c.1740-15A>C - DIS3L2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1740-11A>C r.(=) p.(=) - likely benign g.233194512A>C g.232329802A>C DIS3L2(NM_152383.4):c.1740-11A>C - DIS3L2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1740-7T>C r.(=) p.(=) - likely benign g.233194516T>C g.232329806T>C DIS3L2(NM_001257281.1):c.1582-13539T>C (p.(=)), DIS3L2(NM_152383.4):c.1740-7T>C - DIS3L2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1740-7T>C r.(=) p.(=) - likely benign g.233194516T>C g.232329806T>C DIS3L2(NM_001257281.1):c.1582-13539T>C (p.(=)), DIS3L2(NM_152383.4):c.1740-7T>C - DIS3L2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1756A>G r.(?) p.(Met586Val) - VUS g.233194539A>G g.232329829A>G DIS3L2(NM_152383.4):c.1756A>G (p.(Met586Val)) - DIS3L2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1835dup r.(?) p.(Pro613AlafsTer8) - pathogenic g.233194618dup g.232329908dup DIS3L2(NM_152383.4):c.1835dupC (p.P613Afs*8) - DIS3L2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1908C>T r.(?) p.(Ser636=) - likely benign g.233194691C>T g.232329981C>T DIS3L2(NM_152383.4):c.1908C>T (p.S636=) - DIS3L2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1970G>A r.(?) p.(Arg657His) - likely benign g.233195446G>A - DIS3L2(NM_152383.4):c.1970G>A (p.R657H) - DIS3L2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 17 c.2115C>T r.(?) p.(Arg705=) - VUS g.233198654C>T g.232333944C>T - - DIS3L2_000054 - - - - Germline - - - 0 - Maximiliano Zeballos
-/. - c.2187C>T r.(?) p.(Pro729=) - benign g.233199107C>T g.232334397C>T DIS3L2(NM_001257281.1):c.1582-8948C>T (p.(=)), DIS3L2(NM_152383.4):c.2187C>T (p.P729=) - DIS3L2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.2187C>T r.(?) p.(Pro729=) - benign g.233199107C>T - DIS3L2(NM_001257281.1):c.1582-8948C>T (p.(=)), DIS3L2(NM_152383.4):c.2187C>T (p.P729=) - DIS3L2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2243G>A r.(?) p.(Arg748His) - VUS g.233199163G>A g.232334453G>A - - DIS3L2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.2259T>C r.(?) p.(Ser753=) - likely benign g.233199179T>C g.232334469T>C - - DIS3L2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.2271_2273del r.(?) p.(Phe758del) - VUS g.233199191_233199193del - DIS3L2(NM_152383.4):c.2271_2273delCTT (p.F758del) - DIS3L2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2295T>C r.(?) p.(Ser765=) - likely benign g.233199346T>C - DIS3L2(NM_001257281.1):c.1582-8709T>C (p.?) - DIS3L2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2329A>G r.(?) p.(Ile777Val) - likely benign g.233199380A>G g.232334670A>G DIS3L2(NM_152383.4):c.2329A>G (p.(Ile777Val)) - DIS3L2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2356G>T r.(?) p.(Val786Leu) - VUS g.233199407G>T g.232334697G>T DIS3L2(NM_152383.4):c.2356G>T (p.(Val786Leu)) - DIS3L2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2367C>T r.(?) p.(Tyr789=) - likely benign g.233199418C>T g.232334708C>T DIS3L2(NM_152383.4):c.2367C>T (p.Y789=) - DIS3L2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.2370C>T r.(?) p.(Gly790=) - VUS g.233199421C>T g.232334711C>T DIS3L2(NM_152383.4):c.2370C>T (p.G790=) - DIS3L2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2370C>T r.(?) p.(Gly790=) - likely benign g.233199421C>T g.232334711C>T DIS3L2(NM_152383.4):c.2370C>T (p.G790=) - DIS3L2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. ? c.2394+5G>A r.(?) p.(Glu764_Asn798del) - likely pathogenic g.233199450G>A g.232334740G>A - - DIS3L2_000003 - PubMed: Astuti 2012 - - Germline - - - 0 - Gerard C.P. Schaafsma
-?/. - c.2424G>A r.(?) p.(Gln808=) - likely benign g.233200512G>A g.232335802G>A DIS3L2(NM_152383.4):c.2424G>A (p.Q808=) - DIS3L2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.*6784_*6785insGGG r.(=) p.(=) - VUS g.233208124_233208125insGGG g.232343414_232343415insGGG DIS3L2(NM_001257281.1):c.1651_1652insGGG (p.E550_A551insG) - DIS3L2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*6855_*6856del r.(=) p.(=) - VUS g.233208195_233208196del g.232343485_232343486del DIS3L2(NM_001257281.1):c.1721_1722del (p.(Phe576ProfsTer131)) - DIS3L2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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