All variants in the REEP6 gene

Information The variants shown are described using the NM_138393.1 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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.-5835_115+936delins-2010_-1853inv r.0? p.0? - pathogenic (recessive) g.1485434_1492319delins1489259_1489416inv g.1485435_1492320delins1489260_1489417inv - - REEP6_000012 Variant Error [ESYNTAX]: This genomic variant has an error (char 36: expected EOF). Please fix this entry and then remove this message. PubMed: Arno 2016 - - Germline yes - - - - Johan den Dunnen
-?/. - c.-3659C>T r.(?) p.(=) - likely benign g.1487610C>T g.1487611C>T PCSK4(NM_017573.4):c.674G>A (p.R225Q) - PCSK4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-3655C>T r.(?) p.(=) - VUS g.1487614C>T g.1487615C>T PCSK4(NM_017573.3):c.670G>A (p.(Ala224Thr)) - PCSK4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.62T>C r.(?) p.(Val21Ala) - likely benign g.1491330T>C - REEP6(NM_001329556.2):c.62T>C (p.V21A) - PCSK4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.116-20C>T r.(=) p.(=) - likely benign g.1495273C>T - REEP6(NM_138393.4):c.116-20C>T - PCSK4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.119C>A r.(?) p.(Ala40Asp) - VUS g.1495296C>A g.1495297C>A - - PCSK4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.176A>G r.(?) p.(Asn59Ser) - VUS g.1495353A>G - REEP6(NM_001329556.2):c.176A>G (p.N59S) - PCSK4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.198C>T r.(?) p.(Pro66=) - likely benign g.1495375C>T g.1495376C>T REEP6(NM_001329556.2):c.198C>T (p.P66=) - PCSK4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.204T>C r.(?) p.(Tyr68=) - likely benign g.1495381T>C g.1495382T>C REEP6(NM_138393.4):c.204T>C (p.Y68=) - PCSK4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.209+5dup r.spl? p.? - VUS g.1495391dup g.1495392dup - - PCSK4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.210-14C>T r.(=) p.(=) - likely benign g.1495454C>T - REEP6(NM_001329556.3):c.210-14C>T - PCSK4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2i c.210-2A>G r.spl? p.(?) - pathogenic g.1495466A>G - c.210-2A>G - REEP6_000020 - PubMed: Panneman 2023 - - Unknown - - - - - Daan Panneman
+/. - c.223G>A r.(?) p.(Glu75Lys) - pathogenic (recessive) g.1495481G>A g.1495482G>A - - REEP6_000013 - PubMed: Veleri 2017 - - Germline - - - - - Johan den Dunnen
+/. - c.223G>A r.(?) p.(Glu75Lys) - pathogenic (recessive) g.1495481G>A g.1495482G>A - - REEP6_000013 - PubMed: Veleri 2017 - - Germline - - - - - Johan den Dunnen
?/. 3 c.223G>A r.(?) p.(Glu75Lys) - VUS g.1495481G>A - c.223G>A - REEP6_000013 - PubMed: Panneman 2023 - - Unknown - - - - - Daan Panneman
+/. 3 c.234_237del r.(?) p.(Ser78Argfs*67) - pathogenic (recessive) g.1495492_1495495del - c.230_233del:p.77_78del - REEP6_000019 - PubMed: Numa-2020 - - Unknown - - - - - LOVD
+/. - c.255G>A r.(?) p.(Trp85Ter) ACMG pathogenic (recessive) g.1495513G>A g.1495514G>A - - REEP6_000024 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 1275816 - Germline - - - - - Johan den Dunnen
+/. - c.267G>A r.(?) p.(Trp89*) - pathogenic (recessive) g.1495525G>A g.1495526G>A - - REEP6_000014 - PubMed: Mejecase 2018 - - Germline yes - - - - Johan den Dunnen
-/. - c.268G>C r.(?) p.(Val90Leu) - benign g.1495526G>C g.1495527G>C REEP6(NM_001329556.2):c.268G>C (p.V90L) - PCSK4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.279_280del r.(?) p.(Leu94Valfs*320) - pathogenic (recessive) g.1495537_1495538del g.1495538_1495539del - - REEP6_000011 - PubMed: Arno 2016 - - Germline yes - - - - Johan den Dunnen
+?/. 3 c.279_280del r.(?) p.(Leu94Valfs*86) - likely pathogenic g.1495537_1495538del - c.279_280del - REEP6_000011 - PubMed: Panneman 2023 - - Unknown - - - - - Daan Panneman
?/. - c.280_281del r.(?) p.(Leu94ValfsTer320) ACMG VUS g.1495538_1495539del g.1495539_1495540del REEP6 c.280_281del, p.L94fs - REEP6_000017 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - LOVD
+/. 3 c.280_281del r.(?) p.(Leu94Valfs*320) - pathogenic (recessive) g.1495538_1495539del - c.280_281del:p.94_94del - REEP6_000017 - PubMed: Numa-2020 - - Unknown - - - - - LOVD
+/. - c.295G>A r.(?) p.(Glu99Lys) - pathogenic (recessive) g.1495553G>A g.1495554G>A - - REEP6_000015 - PubMed: Lin 2020 - - Germline - - - - - Johan den Dunnen
+?/. - c.295G>A r.(?) p.(Glu99Lys) - likely pathogenic g.1495553G>A g.1495554G>A REEP6 c.295G>A, p.E99K - REEP6_000015 homozygous PubMed: Jauregui 2020 - - Unknown ? - - - - LOVD
?/. - c.295G>A r.(?) p.(Glu99Lys) ACMG VUS g.1495553G>A g.1495554G>A REEP6 c.G295A, p.E99K - REEP6_000015 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - LOVD
?/. - c.349-7C>G r.(=) p.(=) - VUS g.1496277C>G g.1496278C>G REEP6(NM_001329556.2):c.349-7C>G - REEP6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.349-4G>T r.spl? p.? - pathogenic g.1496280G>T g.1496281G>T - - REEP6_000001 - - - - Germline - - - - - Marta de Castro-Miró
+/. - c.349-1G>A r.spl p.? - pathogenic g.1496283G>A g.1496284G>A - - REEP6_000002 - - - - Germline - - - - - Marta de Castro-Miró
+/. - c.383C>T r.(?) p.(Pro128Leu) - pathogenic (recessive) g.1496318C>T g.1496319C>T - - REEP6_000010 - PubMed: Arno 2016 - - Germline yes - - - - Johan den Dunnen
?/. - c.391G>A r.(?) p.(Gly131Arg) - VUS g.1496326G>A - - - REEP6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.404T>C r.(?) p.(Leu135Pro) - pathogenic (recessive) g.1496339T>C g.1496340T>C - - REEP6_000007 - PubMed: Arno 2016 - - Germline yes - - - - Johan den Dunnen
?/. - c.413G>A r.(?) p.(Arg138His) - VUS g.1496348G>A g.1496349G>A REEP6(NM_001329556.2):c.413G>A (p.R138H) - REEP6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.420G>A r.(?) p.(=) - likely benign g.1496355G>A - REEP6(NM_001329556.3):c.420G>A (p.V140=) - REEP6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 4 c.421C>T r.(?) p.(Arg141Cys) - VUS g.1496356C>T - c.421C>T - REEP6_000021 - PubMed: Panneman 2023 - - Unknown - - - - - Daan Panneman
+/. - c.448del r.(?) p.(Ala150Profs*2) - pathogenic (recessive) g.1496383del g.1496384del - - REEP6_000008 - PubMed: Arno 2016 - - Germline yes - - - - Johan den Dunnen
-?/. - c.469G>A r.(?) p.(Asp157Asn) - likely benign g.1496404G>A g.1496405G>A REEP6(NM_001329556.2):c.469G>A (p.D157N) - REEP6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.469G>A r.(?) p.(Asp157Asn) ACMG VUS g.1496404G>A g.1496405G>A - - REEP6_000004 ACMG PM2, BP4 PubMed: Weisschuh 2024 - - Germline - - - - - Johan den Dunnen
-?/. - c.517+122C>T r.(=) p.(=) - likely benign g.1496574C>T - REEP6(NM_138393.4):c.517+122C>T - REEP6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.517+155C>T r.(=) p.(=) - VUS g.1496607C>T g.1496608C>T REEP6(NM_138393.4):c.517+155C>T - REEP6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.517+177dup r.(=) p.(?) - pathogenic (recessive) g.1496629dup g.1496630dup NM_001329556.3:c.557dup (Val187Glyfs*13) - REEP6_000009 - PubMed: Arno 2016 - - Germline yes - - - - Johan den Dunnen
-?/. - c.518-20A>C r.(=) p.(=) - likely benign g.1497153A>C - REEP6(NM_001329556.3):c.599-20A>C - REEP6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 5 c.598+1delG r.(?) p.? - pathogenic g.1497254delG - c.598+1delG - REEP6_000018 - PubMed: Fuster-Garcia-2019 - - Unknown - - - - - LOVD
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