All variants in the RMND1 gene

Information The variants shown are described using the NM_017909.3 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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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.-15+10T>G r.(=) p.(=) - VUS g.151773141A>C - RMND1(NM_017909.4):c.-15+10T>G - C6orf211_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.140G>A r.(?) p.(Arg47His) - likely benign g.151766807C>T - RMND1(NM_017909.4):c.140G>A (p.R47H) - RMND1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 c.485del r.(?) p.(Pro162Glnfs*5) - pathogenic g.151766463del g.151445328del - - RMND1_000006 - PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - Johan den Dunnen
+/. 3 c.533C>T r.(?) p.(Thr178Met) - pathogenic g.151757661G>A g.151436526G>A - - RMND1_000003 - PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - Johan den Dunnen
+/. 3 c.533C>T r.(?) p.(Thr178Met) - pathogenic g.151757661G>A g.151436526G>A - - RMND1_000003 - PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - Johan den Dunnen
+/. 3 c.613G>T r.(?) p.(Asp205Tyr) - pathogenic g.151757581C>A g.151436446C>A - - RMND1_000004 - PubMed: Janer 2015, Journal: Janer 2015, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - Johan den Dunnen
-?/. - c.668C>T r.(?) p.(Pro223Leu) - likely benign g.151754311G>A - RMND1(NM_017909.4):c.668C>T (p.P223L) - RMND1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.689+17A>G r.(=) p.(=) - benign g.151754273T>C g.151433138T>C - - RMND1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 5 c.713A>G r.(?) p.(Asn238Ser) - pathogenic g.151751289T>C g.151430154T>C - - RMND1_000002 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - Johan den Dunnen
+/. 5 c.713A>G r.(?) p.(Asn238Ser) - pathogenic g.151751289T>C g.151430154T>C - - RMND1_000002 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - Johan den Dunnen
+/. 5 c.713A>G r.(?) p.(Asn238Ser) - pathogenic g.151751289T>C g.151430154T>C - - RMND1_000002 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - Johan den Dunnen
+/. 5 c.713A>G r.(?) p.(Asn238Ser) - pathogenic g.151751289T>C g.151430154T>C - - RMND1_000002 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - Johan den Dunnen
+/. 5 c.713A>G r.(?) p.(Asn238Ser) - pathogenic g.151751289T>C g.151430154T>C - - RMND1_000002 - PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - Johan den Dunnen
+/. 5 c.713A>G r.(?) p.(Asn238Ser) - pathogenic g.151751289T>C g.151430154T>C - - RMND1_000002 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - Johan den Dunnen
+/. 5 c.713A>G r.(?) p.(Asn238Ser) - pathogenic g.151751289T>C g.151430154T>C - - RMND1_000002 - PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - Johan den Dunnen
+/. 5 c.713A>G r.(?) p.(Asn238Ser) - pathogenic g.151751289T>C g.151430154T>C - - RMND1_000002 - PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - Johan den Dunnen
+/. 5 c.713A>G r.(?) p.(Asn238Ser) - pathogenic g.151751289T>C g.151430154T>C - - RMND1_000002 - PubMed: Janer 2015, Journal: Janer 2015, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - Johan den Dunnen
+?/. - c.713A>G r.(?) p.(Asn238Ser) - likely pathogenic g.151751289T>C g.151430154T>C RMND1(NM_017909.4):c.713A>G (p.N238S) - RMND1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.713A>G r.(?) p.(Asn238Ser) - pathogenic g.151751289T>C g.151430154T>C RMND1(NM_017909.4):c.713A>G (p.N238S) - RMND1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.713A>G r.(?) p.(Asn238Ser) - pathogenic (recessive) g.151751289T>C g.151430154T>C - - RMND1_000002 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen
+/. - c.713A>G r.(?) p.(Asn238Ser) - pathogenic g.151751289T>C - RMND1(NM_017909.4):c.713A>G (p.N238S) - RMND1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.729+1G>C r.spl? p.? - likely pathogenic g.151751272C>G - - - RMND1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.783C>T r.(?) p.(Ile261=) - likely benign g.151748664G>A - RMND1(NM_017909.4):c.783C>T (p.I261=) - RMND1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.818A>C r.(?) p.(Tyr273Ser) - likely pathogenic g.151748629T>G - - - RMND1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 c.829G>C r.(?) p.(Glu277Gln) ACMG likely pathogenic g.151748618C>G - - - RMND1_000029 - - - rs143508229 Unknown - - - - - Cordula Haas
+/. - c.829_830+2del r.spl p.(Glu277Glyfs*2) - pathogenic (recessive) g.151748615_151748618del g.151427480_151427483del 829_830+2delGAGT - RMND1_000017 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen
-?/. - c.858A>T r.(?) p.(Glu286Asp) - likely benign g.151744739T>A - RMND1(NM_017909.4):c.858A>T (p.E286D) - RMND1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1002+18A>T r.(=) p.(=) - likely benign g.151743658T>A - RMND1(NM_017909.4):c.1002+18A>T - RMND1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1003-2_1003-1insTGA r.spl? p.? - VUS g.151742458_151742459insCAT - RMND1(NM_017909.4):c.1003-2_1003-1insTGA - RMND1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1085G>A r.(?) p.(Arg362His) - VUS g.151738529C>T g.151417394C>T - - RMND1_000016 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142588921 Germline - 3/2795 individuals - - - Mohammed Faruq
-?/. - c.1085G>A r.(?) p.(Arg362His) - likely benign g.151738529C>T - RMND1(NM_017909.4):c.1085G>A (p.R362H) - RMND1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1166C>G r.(?) p.(Thr389Arg) - VUS g.151738448G>C g.151417313G>C - - RMND1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1177C>G r.(?) p.(Leu393Val) - likely pathogenic g.151738437G>C g.151417302G>C - - RMND1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1200+4C>T r.spl? p.? - likely benign g.151738410G>A - RMND1(NM_017909.4):c.1200+4C>T - RMND1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1209T>C r.(?) p.(Asn403=) - likely benign g.151726963A>G - RMND1(NM_017909.3):c.1209T>C (p.N403=), RMND1(NM_017909.4):c.1209T>C (p.N403=) - RMND1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1209T>C r.(?) p.(Asn403=) - likely benign g.151726963A>G - RMND1(NM_017909.3):c.1209T>C (p.N403=), RMND1(NM_017909.4):c.1209T>C (p.N403=) - RMND1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.1238C>A r.(?) p.(Thr413Lys) - likely pathogenic g.151726934G>T g.151405799G>T RMND1(NM_017909.2):c.1238C>A (p.(Thr413Lys)) - RMND1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1249C>A r.(?) p.(=) - likely benign g.151726923G>T - RMND1(NM_017909.4):c.1249C>A (p.R417=) - RMND1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.1262_1275del r.(?) p.(Asn421ThrfsTer18) - likely pathogenic g.151726898_151726911del g.151405763_151405776del RMND1(NM_017909.4):c.1262_1275delATGAGAAGAGGGCA (p.N421Tfs*18) - RMND1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1280G>A r.(?) p.(Arg427His) - VUS g.151726892C>T g.151405757C>T RMND1(NM_017909.3):c.1280G>A (p.R427H) - RMND1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1280G>A r.(?) p.(Arg427His) - VUS g.151726892C>T - RMND1(NM_017909.3):c.1280G>A (p.R427H) - RMND1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 11 c.1303C>T r.(?) p.(Leu435Phe) - pathogenic g.151726869G>A g.151405734G>A - - RMND1_000007 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - Johan den Dunnen
+/. 11i c.1317+1G>T r.spl? p.? - pathogenic g.151726854C>A g.151405719C>A - - RMND1_000005 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - Johan den Dunnen
-/. - c.1349G>A r.(?) p.(*450=) - benign g.151726371C>T - RMND1(NM_017909.4):c.1349G>A (p.*450=) - RMND1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
./. - c.1349G>C r.(?) p.(*450Serext*31) - pathogenic g.151726371C>G g.151405236C>G - - RMND1_000001 - PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano
+/. 12 c.1349G>C r.(?) p.(*450Serext*31) - pathogenic g.151726371C>G g.151405236C>G - - RMND1_000001 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - Johan den Dunnen
+/. 12 c.1349G>C r.(?) p.(*450Serext*31) - pathogenic g.151726371C>G g.151405236C>G - - RMND1_000001 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - Johan den Dunnen
+/. 12 c.1349G>C r.(?) p.(*450Serext*31) - pathogenic g.151726371C>G g.151405236C>G - - RMND1_000001 - PubMed: Ng 2016, Journal: Ng 2016, PubMed: Ulrick 2016, Journal: Ulrick 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.1349G>C r.(?) p.(*450Serext*31) - pathogenic (recessive) g.151726371C>G g.151405236C>G - - RMND1_000001 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen
+/. - c.1349G>C r.(?) p.(*450Serext*31) - pathogenic (recessive) g.151726371C>G g.151405236C>G - - RMND1_000001 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen
+/. - c.1349G>C r.(?) p.(*450Serext*31) - pathogenic (recessive) g.151726371C>G g.151405236C>G - - RMND1_000001 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen
+/. - c.1349G>C r.(?) p.(*450Serext*31) - pathogenic (recessive) g.151726371C>G g.151405236C>G - - RMND1_000001 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen
+/. - c.1349G>C r.(?) p.(*450Serext*31) - pathogenic (recessive) g.151726371C>G g.151405236C>G - - RMND1_000001 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen
+/. - c.1349G>C r.(?) p.(*450Serext*31) - pathogenic g.151726371C>G - RMND1(NM_017909.4):c.1349G>C (p.*450Sext*31) - RMND1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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