All variants in the REN gene

Information The variants shown are described using the NM_000537.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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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.77C>T r.(?) p.(Thr26Ile) - likely pathogenic g.204135345G>A g.204166217G>A - - REN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 1 c.98G>A r.spl p.(Arg33Gln) - pathogenic g.204135324C>T g.204166196C>T - - REN_000001 abnormal splicing PubMed: Gibrouval 2012 - - Germline - - - - - Olivier Gribouval
+/? 2 c.127C>T r.(?) p.(Arg43*) - pathogenic g.204131263G>A g.204162135G>A - - REN_000011 - PubMed: Gibrouval 2012 - - Germline - - - - - Olivier Gribouval
+/? 2 c.127C>T r.(?) p.(Arg43*) - pathogenic g.204131263G>A g.204162135G>A - - REN_000011 - PubMed: Gibrouval 2012 - - Germline - - - - - Olivier Gribouval
+/? 2 c.145C>T r.(?) p.(Arg49*) - pathogenic g.204131245G>A g.204162117G>A - - REN_000002 - PubMed: Gribouval 2005 - - Germline - - - - - Olivier Gribouval
+/? 2 c.145C>T r.(?) p.(Arg49*) - pathogenic g.204131245G>A g.204162117G>A - - REN_000002 - PubMed: Gribouval 2005 - - Germline - - - - - Olivier Gribouval
-/. - c.204A>C r.(?) p.(Thr68=) - benign g.204131186T>G g.204162058T>G - - REN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/? 2 c.241_243dup r.(?) p.(Tyr81dup) - pathogenic g.204131149_204131151dup g.204162021_204162023dup - - REN_000005 - PubMed: Gibrouval 2012 - - Germline - - - - - Olivier Gribouval
+/? 2 c.241_243dup r.(?) p.(Tyr81dup) - pathogenic g.204131149_204131151dup g.204162021_204162023dup - - REN_000005 - PubMed: Gibrouval 2012 - - Germline - - - - - Olivier Gribouval
+/? 2 c.249+1G>A r.spl p.? - pathogenic g.204131140C>T g.204162012C>T - - REN_000004 abnormal splicing PubMed: Gibrouval 2012 - - Germline - - - - - Olivier Gribouval
+/? 2 c.249+1G>A r.spl p.? - pathogenic g.204131140C>T g.204162012C>T - - REN_000004 abnormal splicing PubMed: Gibrouval 2012 - - Germline - - - - - Olivier Gribouval
+/? 3 c.310G>A r.(?) p.(Asp104Asn) - pathogenic g.204130483C>T g.204161355C>T - - REN_000009 - PubMed: Gribouval 2005 - - Germline - - - - - Olivier Gribouval
+/? 3 c.373+1G>A r.spl p.? - pathogenic g.204130419C>T g.204161291C>T IVS3+1G>A - REN_000010 abnormal splicing PubMed: Gribouval 2005 - - Germline - - - - - Olivier Gribouval
+/? 4 c.374-12_374-11inv r.spl p.(=) - pathogenic g.204129817_204129818inv g.204160689_204160690inv IVS3-12TC>AG - REN_000006 abnormal splicing PubMed: Gribouval 2005 - - Germline - - - - - Olivier Gribouval
+/? 4 c.374-12_374-11inv r.spl p.(=) - pathogenic g.204129817_204129818inv g.204160689_204160690inv IVS3-12TC>AG - REN_000006 abnormal splicing PubMed: Gribouval 2005 - - Germline - - - - - Olivier Gribouval
+/? 4 c.404C>A r.(?) p.(Ser135Tyr) - pathogenic g.204129776G>T g.204160648G>T - - REN_000007 - Bacchetta et al 2007 - - Germline - - - - - Olivier Gribouval
+/? 4 c.404C>A r.(?) p.(Ser135Tyr) - pathogenic g.204129776G>T g.204160648G>T - - REN_000007 - Bacchetta et al 2007 - - Germline - - - - - Olivier Gribouval
+/? 4 c.404C>A r.(?) p.(Ser135Tyr) - pathogenic g.204129776G>T g.204160648G>T - - REN_000007 - Bacchetta et al 2007 - - Germline - - - - - Olivier Gribouval
+/? 4 c.404C>A r.(?) p.(Ser135Tyr) - pathogenic g.204129776G>T g.204160648G>T - - REN_000007 - Bacchetta et al 2007 - - Germline - - - - - Olivier Gribouval
-/. - c.492+17T>G r.(=) p.(=) - benign g.204129671A>C g.204160543A>C REN(NM_000537.4):c.492+17T>G - REN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/? 5 c.516_517del r.(?) p.(Gln172Hisfs*19) - pathogenic g.204128700_204128701del g.204159572_204159573del 516_517delGA - REN_000003 - PubMed: Gibrouval 2012 - - Germline - - - - - Olivier Gribouval
+/? 5 c.689G>A r.spl p.(Arg230Lys) - pathogenic g.204128527C>T g.204159399C>T - - REN_000008 abnormal splicing PubMed: Gribouval 2005 - - Germline - - - - - Olivier Gribouval
+/? 5 c.689G>A r.spl p.(Arg230Lys) - pathogenic g.204128527C>T g.204159399C>T - - REN_000008 abnormal splicing PubMed: Gribouval 2005 - - Germline - - - - - Olivier Gribouval
-/. - c.819-25_819-18dup r.(=) p.(=) - benign g.204125485_204125492dup g.204156357_204156364dup REN(NM_000537.4):c.819-25_819-18dupTCTGTCTG - ETNK2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.819-21_819-18del r.(=) p.(=) - likely benign g.204125489_204125492del g.204156361_204156364del REN(NM_000537.4):c.819-21_819-18delTCTG - REN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.960+2dup r.(?) p.(?) ACMG VUS g.204125304dup g.204156176dup - - REN_000025 ACMG grading: PM2,PP3; prenatal diagnostic, other child of couple with renal insufficiency - - - Germline - - - 0 - Andreas Laner
-/. - c.961-47G>A r.(=) p.(=) - benign g.204125093C>T g.204155965C>T REN(NM_000537.4):c.961-47G>A - REN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.*3191C>A r.(=) p.(=) - VUS g.204120953G>T g.204151825G>T ETNK2(NM_018208.2):c.28C>A (p.(Pro10Thr)) - ETNK2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*5054C>T r.(=) p.(=) - VUS g.204119090G>A g.204149962G>A ETNK2(NM_018208.2):c.259C>T (p.(Arg87Cys)) - ETNK2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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