All variants in the DYX1C1 gene

Information The variants shown are described using the NM_130810.3 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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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.10C>T r.(?) p.(Gln4*) ACMG likely pathogenic g.55790518G>A - - - DYX1C1_000010 ACMG grading: PVS1,PM2 - - rs762704959 Germline - - - - - Andreas Laner
-?/. - c.102C>T r.(?) p.(Phe34=) - likely benign g.55790426G>A - DNAAF4(NM_130810.4):c.102C>T (p.F34=) - CCPG1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.114C>A r.(?) p.(Asn38Lys) - likely benign g.55790414G>T - DNAAF4(NM_130810.4):c.114C>A (p.(Asn38Lys)) - CCPG1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.197T>C r.(?) p.(Ile66Thr) - VUS g.55789984A>G - DNAAF4(NM_130810.4):c.197T>C (p.(Ile66Thr)) - CCPG1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.215T>G r.(?) p.(Val72Gly) - VUS g.55789966A>C - DNAAF4(NM_130810.4):c.215T>G (p.(Val72Gly)) - CCPG1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 3 c.252_253dup r.(?) p.(Thr85Argfs*5) - pathogenic g.55789930_55789931dup g.55497732_55497733dup 253_254insGA - DYX1C1_000005 - PubMed: Tarkar 2013 - - Germline yes - - - - Johan den Dunnen
-?/. - c.271G>A r.(?) p.(Val91Ile) - likely benign g.55789910C>T g.55497712C>T DNAAF4(NM_130810.4):c.271G>A (p.(Val91Ile)) - CCPG1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.299G>A r.(?) p.(Arg100Lys) - VUS g.55783427C>T - DNAAF4(NM_130810.4):c.299G>A (p.R100K) - CCPG1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 4 c.325G>T r.(?) p.(Glu109*) - pathogenic g.55783401C>A g.55491203C>A - - DYX1C1_000002 - PubMed: Tarkar 2013, OMIM:var0005 - - Germline yes - - - - Johan den Dunnen
+/. 4 c.384C>A r.(?) p.(Tyr128*) - pathogenic g.55783342G>T g.55491144G>T - - DYX1C1_000006 - PubMed: Tarkar 2013 - - Germline yes - - - - Johan den Dunnen
+/. 4 c.390_393del r.(?) p.(Val132*) - pathogenic g.55783334_55783337del g.55491136_55491139del 390_393delAAGT - DYX1C1_000007 - PubMed: Tarkar 2013 - - Germline yes - - - - Johan den Dunnen
+/. 4 c.390_393del r.(?) p.(Val132*) - pathogenic g.55783334_55783337del g.55491136_55491139del 390_393delAAGT - DYX1C1_000007 - PubMed: Tarkar 2013 - - Germline yes - - - - Johan den Dunnen
-?/. - c.420G>A r.(?) p.(Glu140=) - likely benign g.55759345C>T - DNAAF4(NM_130810.3):c.420G>A (p.E140=) - CCPG1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.423G>A r.(?) p.(Arg141=) - likely benign g.55759342C>T - DNAAF4(NM_130810.3):c.423G>A (p.R141=) - CCPG1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 5 c.485G>A r.(?) p.(Trp162*) - pathogenic g.55759280C>T g.55467082C>T - - DYX1C1_000008 - PubMed: Tarkar 2013 - - Germline yes - - - - Johan den Dunnen
+/. - c.523dup r.(?) p.(Ile175Asnfs*15) - pathogenic g.55759250dup - DNAAF4(NM_130810.4):c.523dupA (p.I175Nfs*15) - CCPG1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.542T>G r.(?) p.(Leu181Ter) - pathogenic g.55759223A>C g.55467025A>C DNAAF4(NM_130810.4):c.542T>G (p.L181*) - CCPG1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 5 c.583del r.(?) p.(Ile195*) - pathogenic g.55759189del g.55466991del - - DYX1C1_000004 - PubMed: Tarkar 2013, OMIM:var0006 - - Germline yes - - - - Johan den Dunnen
+/. 5 c.583del r.(?) p.(Ile195*) - pathogenic g.55759189del g.55466991del - - DYX1C1_000004 - PubMed: Tarkar 2013, OMIM:var0006 - - Germline yes - - - - Johan den Dunnen
+/. 5 c.583del r.(?) p.(Ile195*) - pathogenic g.55759189del g.55466991del - - DYX1C1_000004 - PubMed: Tarkar 2013, OMIM:var0006 - - Germline yes - - - - Johan den Dunnen
+/. 5 c.583del r.(?) p.(Ile195*) - pathogenic g.55759189del g.55466991del - - DYX1C1_000004 - PubMed: Tarkar 2013, OMIM:var0006 - - Germline yes - - - - Johan den Dunnen
?/. - c.724T>G r.(?) p.(Phe242Val) - VUS g.55742479A>C - DNAAF4(NM_130810.4):c.724T>G (p.F242V) - CCPG1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 6 c.783+1G>T r.spl p.? - pathogenic g.55742419C>A g.55450221C>A - - DYX1C1_000009 - PubMed: Tarkar 2013 - - Germline yes - - - - Johan den Dunnen
+/. 6 c.783+1G>T r.spl p.? - pathogenic g.55742419C>A g.55450221C>A - - DYX1C1_000009 - PubMed: Tarkar 2013 - - Germline yes - - - - Johan den Dunnen
+/. 6i_7i c.784-1037_894-2012del r.(del) p.? - pathogenic g.55729297_55732845del g.55437099_55440647del 3.5 kb del ex 7 - DYX1C1_000003 - PubMed: Casey 2014 - - Germline yes - - - - Johan den Dunnen
+/. 6i_71 c.784-1037_894-2012del r.(del) p.? - pathogenic g.55729297_55732845del g.55437099_55440647del 784-1066_894-2041del - DYX1C1_000003 - PubMed: Tarkar 2013, OMIM:var0003 - - Germline yes - - - - Johan den Dunnen
+/. 6i_71 c.784-1037_894-2012del r.(del) p.? - pathogenic g.55729297_55732845del g.55437099_55440647del 784-1066_894-2041del - DYX1C1_000003 - PubMed: Tarkar 2013, OMIM:var0003 - - Germline yes - - - - Johan den Dunnen
+/. 6i_71 c.784-1037_894-2012del r.(del) p.? - pathogenic g.55729297_55732845del g.55437099_55440647del 784-1066_894-2041del - DYX1C1_000003 - PubMed: Tarkar 2013, OMIM:var0003 - - Germline yes - - - - Johan den Dunnen
+/. 6i_71 c.784-1037_894-2012del r.(del) p.? - pathogenic g.55729297_55732845del g.55437099_55440647del 784-1066_894-2041del - DYX1C1_000003 - PubMed: Tarkar 2013, OMIM:var0003 - - Germline yes - - - - Johan den Dunnen
+/. 6i_71 c.784-1037_894-2012del r.(del) p.? - pathogenic g.55729297_55732845del g.55437099_55440647del 784-1066_894-2041del - DYX1C1_000003 - PubMed: Tarkar 2013, OMIM:var0003 - - Germline yes - - - - Johan den Dunnen
+/. 6i_71 c.784-1037_894-2012del r.(del) p.? - pathogenic g.55729297_55732845del g.55437099_55440647del 784-1066_894-2041del - DYX1C1_000003 - PubMed: Tarkar 2013, OMIM:var0003 - - Germline yes - - - - Johan den Dunnen
+/. 6i_71 c.784-1037_894-2012del r.(del) p.? - pathogenic g.55729297_55732845del g.55437099_55440647del 784-1066_894-2041del - DYX1C1_000003 - PubMed: Tarkar 2013, OMIM:var0003 - - Germline yes - - - - Johan den Dunnen
+/. 6i_71 c.784-1037_894-2012del r.(del) p.? - pathogenic g.55729297_55732845del g.55437099_55440647del 784-1066_894-2041del - DYX1C1_000003 - PubMed: Tarkar 2013, OMIM:var0003 - - Germline yes - - - - Johan den Dunnen
+/. 6i_71 c.784-1037_894-2012del r.(del) p.? - pathogenic g.55729297_55732845del g.55437099_55440647del 784-1066_894-2041del - DYX1C1_000003 - PubMed: Tarkar 2013, OMIM:var0003 - - Germline yes - - - - Johan den Dunnen
+/. 6i_71 c.784-1037_894-2012del r.(del) p.? - pathogenic g.55729297_55732845del g.55437099_55440647del 784-1066_894-2041del - DYX1C1_000003 - PubMed: Tarkar 2013, OMIM:var0003 - - Germline yes - - - - Johan den Dunnen
+/. 6i_71 c.784-1037_894-2012del r.(del) p.? - pathogenic g.55729297_55732845del g.55437099_55440647del 784-1066_894-2041del - DYX1C1_000003 - PubMed: Tarkar 2013, OMIM:var0003 - - Germline yes - - - - Johan den Dunnen
+/. - c.784-1G>A r.spl? p.? - pathogenic g.55731780C>T g.55439582C>T DNAAF4(NM_130810.4):c.784-1G>A - CCPG1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.784-1G>A r.spl? p.? - pathogenic g.55731780C>T - DNAAF4(NM_130810.4):c.784-1G>A - CCPG1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 7 c.808C>T r.(?) p.(Arg270*) - pathogenic g.55731755G>A g.55439557G>A - - DYX1C1_000001 - PubMed: Tarkar 2013, OMIM:var0004 - - Germline yes - - - - Johan den Dunnen
?/. - c.809G>C r.(?) p.(Arg270Pro) - VUS g.55731754C>G g.55439556C>G DYX1C1(NM_001033559.2):c.809G>C (p.(Arg270Pro)) - CCPG1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.862A>G r.(?) p.(Lys288Glu) - VUS g.55731701T>C - DNAAF4(NM_130810.4):c.862A>G (p.(Lys288Glu)) - CCPG1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.881A>T r.(?) p.(Lys294Met) - VUS g.55731682T>A g.55439484T>A DNAAF4(NM_130810.4):c.881A>T (p.(Lys294Met), p.K294M) - CCPG1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.881A>T r.(?) p.(Lys294Met) - VUS g.55731682T>A - DNAAF4(NM_130810.4):c.881A>T (p.(Lys294Met), p.K294M) - CCPG1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.913A>C r.(?) p.(Asn305His) - VUS g.55727237T>G - DNAAF4(NM_130810.4):c.913A>C (p.N305H) - CCPG1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.986A>T r.(?) p.(Asn329Ile) - VUS g.55727164T>A g.55434966T>A DYX1C1(NM_001033559.2):c.986A>T (p.(Asn329Ile)) - CCPG1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.988C>T r.(?) p.(Arg330Trp) - likely pathogenic g.55727162G>A - DNAAF4(NM_130810.4):c.988C>T (p.R330W) - CCPG1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1022A>T r.(?) p.(His341Leu) - VUS g.55727128T>A - DNAAF4(NM_130810.4):c.1022A>T (p.(His341Leu)) - CCPG1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1114C>T r.(?) p.(Arg372Cys) - likely pathogenic g.55724734G>A g.55432536G>A DNAAF4(NM_130810.4):c.1114C>T (p.R372C) - CCPG1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1133A>C r.(?) p.(Gln378Pro) - VUS g.55724715T>G - DNAAF4(NM_130810.4):c.1133A>C (p.Q378P) - CCPG1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1212T>A r.(?) p.(Ile404=) - VUS g.55722919A>T - DNAAF4(NM_001033559.2):c.1106T>A (p.L369*) - CCPG1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*70250G>T r.(=) p.(=) - VUS g.55652618C>A - CCPG1(NM_004748.4):c.1353G>T (p.L451F) - CCPG1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*70479T>G r.(=) p.(=) - VUS g.55652389A>C g.55360191A>C CCPG1(NM_004748.4):c.1582T>G (p.S528A) - CCPG1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*70563A>G r.(=) p.(=) - VUS g.55652305T>C - CCPG1(NM_004748.4):c.1666A>G (p.K556E) - CCPG1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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