Full data view for gene RCBTB1

Information The variants shown are described using the NM_018191.3 transcript reference sequence.

85 entries on 1 page. Showing entries 1 - 85.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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Age at death     

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+/. _1_9_ c.(?_-1596)_(1045+1031_1045+1794)dup r.0? p.0? Unknown - VUS g.(50121800_50122563)_(50161054_?)dup - c.1-?_1045+?dup - RCBTB1_000018 - PubMed: Van Cauwenbergh 2016 - - Germline/De novo (untested) - - - - - DNA arrayCNV leukocytes five probe groups containing multiple genes retinal disease III:2:P4 PubMed: Van Cauwenbergh 2016 4 generation family, 2 affected M no Belgium - - - - - 2 Jasmine Chen
-/. 2i c.-41-2A>C r.spl? p.? Unknown - benign g.50141458T>G - c.-41-2A>C - RCBTB1_000039 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 12782 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-/. 2i c.-41-2A>C r.spl? p.? Unknown - benign g.50141458T>G - c.-41-2A>C - RCBTB1_000039 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 4673 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-/. 2i c.-41-2A>C r.spl? p.? Unknown - benign g.50141458T>G - c.-41-2A>C - RCBTB1_000039 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 19024 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
?/. 3 c.76G>T r.(?) p.(Val26Phe) Both (homozygous) - VUS g.50141340C>A - c.76G>T - RCBTB1_000047 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
-/. 3i c.126+2del r.spl? p.? Unknown - benign g.50141288del - c.126+2delT - RCBTB1_000038 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 17842 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-/. 4 c.152delinsTT r.(?) p.(Ser51Ilefs*2) Unknown - benign g.50140879delinsAA - c.152delinsTT - RCBTB1_000037 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 11465 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
?/. - c.154A>C r.(?) p.(Asn52His) Unknown - VUS g.50140877T>G - RCBTB1(NM_001352500.1):c.154A>C (p.N52H) - RCBTB1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.158G>A r.(?) p.(Cys53Tyr) Unknown - VUS g.50140873C>T g.49566737C>T - - RCBTB1_000023 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71472 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
+/. 4 c.170del r.(?) p.(Gly57Glufs*12) Parent #1 - pathogenic g.50140861del - c.170delG - RCBTB1_000036 - PubMed: Huang-2019 - - Unknown - - - - - DNA SEQ - - retinal disease - PubMed: Huang-2019 - F - - Singaporean-Chinese - - - - 1 LOVD
+/. 4 c.170del r.(?) p.(Gly57Glufs*12) Parent #1 - pathogenic g.50140861del - c.170delG and c.905_906insTT - RCBTB1_000036 - PubMed: Yang 2020 - - Unknown - - - - - DNA SEQ-NG, SEQ - - retinal disease 16755 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-/. 4 c.170del r.(?) p.(Gly57Glufs*12) Unknown - benign g.50140861del - c.170delG - RCBTB1_000036 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 8126 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-/. 4 c.170del r.(?) p.(Gly57Glufs*12) Unknown - benign g.50140861del - c.170delG - RCBTB1_000036 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 7973 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-/. 4 c.170del r.(?) p.(Gly57Glufs*12) Unknown - benign g.50140861del - c.170delG - RCBTB1_000036 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 6391 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-/. 4 c.170del r.(?) p.(Gly57Glufs*12) Unknown - benign g.50140861del - c.170delG - RCBTB1_000036 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 10442 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-/. 4 c.170del r.(?) p.(Gly57Glufs*12) Unknown - benign g.50140861del - c.170delG - RCBTB1_000036 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 794 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-/. 4 c.170del r.(?) p.(Gly57Glufs*12) Unknown - benign g.50140861del - c.170delG - RCBTB1_000036 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 1228 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-/. 4 c.170del r.(?) p.(Gly57Glufs*12) Unknown - benign g.50140861del - c.170delG - RCBTB1_000036 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 8739 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-/. - c.207A>C r.(?) p.(Glu69Asp) Unknown - benign g.50140824T>G g.49566688T>G RCBTB1(NM_018191.4):c.207A>C (p.E69D) - RCBTB1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273C>T r.(?) p.(Thr91=) Unknown - likely benign g.50140758G>A g.49566622G>A RCBTB1(NM_018191.4):c.273C>T (p.T91=) - RCBTB1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.354C>T r.(?) p.(Pro118=) Unknown - likely benign g.50134144G>A - RCBTB1(NM_001352500.1):c.354C>T (p.P118=) - RCBTB1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.363C>A r.(?) p.(Val121=) Unknown - VUS g.50134135G>T g.49559999G>T RCBTB1(NM_018191.4):c.363C>A (p.V121=) - RCBTB1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.487G>C r.(?) p.(Gly163Arg) Parent #1 - VUS g.50129767C>G - c.487G>C - RCBTB1_000046 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
?/. - c.577T>G r.(?) p.(Ser193Ala) Unknown - VUS g.50129677A>C - RCBTB1(NM_018191.4):c.577T>G (p.S193A) - RCBTB1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.594C>G r.(?) p.(Asp198Glu) Maternal (inferred) - VUS g.50129660G>C g.49555524G>C - - RCBTB1_000017 - PubMed: Van Cauwenbergh 2016 - - Germline yes - - - - DNA arrayCNV leukocytes five probe groups containing multiple genes retinal disease III:2:P4 PubMed: Van Cauwenbergh 2016 4 generation family, 2 affected M no Belgium - - - - - 2 Jasmine Chen
-?/. - c.594C>G r.(?) p.(Asp198Glu) Unknown - likely benign g.50129660G>C - RCBTB1(NM_001352506.1):c.15C>G (p.D5E) - RCBTB1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.630C>T r.(?) p.(Asn210=) Unknown - likely benign g.50126395G>A - RCBTB1(NM_001352506.1):c.51C>T (p.N17=) - RCBTB1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.707del r.(?) p.(Asn236Thrfs*11) Paternal (inferred) - pathogenic (!) g.50126319del g.49552183del 707delA - RCBTB1_000016 variant is pathogenic (dominant) but with a reduced penetrance (unaffected carrier parents) PubMed: Wu 2016 - - Germline - - - - - DNA SEQ-NG-I - WES EVR;FEVR E5 II-1 PubMed: Wu 2016 2 generation family, 1 affected M no Taiwan - - - - cryopexy, pars plana vitrectomy, removal of subretinal fibrous cord 1 Jasmine Chen
+/. - c.707del r.(?) p.(Asn236Thrfs*11) Both (homozygous) ACMG pathogenic g.50126319del g.49552183del RCBTB1 c.[707del];[707del], V1: c.707delA, (p.Asn236ThrfsTer11) - RCBTB1_000016 homozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F171 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.707del r.(?) p.(Asn236Thrfs*11) Both (homozygous) ACMG pathogenic g.50126319del g.49552183del RCBTB1 c.[707del];[707del], V1: c.707delA, (p.Asn236ThrfsTer11) - RCBTB1_000016 homozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F238 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.707del r.(?) p.(Asn236Thrfs*11) Both (homozygous) ACMG pathogenic g.50126319del g.49552183del RCBTB1 c.[707del];[707del], V1: c.707delA, (p.Asn236ThrfsTer11) - RCBTB1_000016 homozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F282 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. 7 c.707del r.(?) p.(Asn236Thrfs*11) Parent #2 - pathogenic g.50126318del - c.707delA - RCBTB1_000016 - PubMed: Huang-2020 - - Unknown - - - - - DNA SEQ - - retinal disease - PubMed: Huang-2019 - F - - Singaporean-Chinese - - - - 1 LOVD
-/. 7 c.707del r.(?) p.(Asn236Thrfs*11) Unknown - benign g.50126318del - c.707delA - RCBTB1_000016 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 9192 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-/. 7 c.707del r.(?) p.(Asn236Thrfs*11) Unknown - benign g.50126318del - c.707delA - RCBTB1_000016 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 18927 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-/. 7 c.707del r.(?) p.(Asn236Thrfs*11) Unknown - benign g.50126318del - c.707delA - RCBTB1_000016 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 9923 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-/. 7 c.707del r.(?) p.(Asn236Thrfs*11) Unknown - benign g.50126318del - c.707delA - RCBTB1_000016 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 7317 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-/. 7 c.707del r.(?) p.(Asn236Thrfs*11) Unknown - benign g.50126318del - c.707delA - RCBTB1_000016 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 6163 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-/. 7 c.707del r.(?) p.(Asn236Thrfs*11) Unknown - benign g.50126318del - c.707delA - RCBTB1_000016 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 5284 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-/. 7 c.707del r.(?) p.(Asn236Thrfs*11) Unknown - benign g.50126318del - c.707delA - RCBTB1_000016 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 6874 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-/. 7 c.707del r.(?) p.(Asn236Thrfs*11) Unknown - benign g.50126318del - c.707delA - RCBTB1_000016 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 5208 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-/. 7 c.707del r.(?) p.(Asn236Thrfs*11) Unknown - benign g.50126318del - c.707delA - RCBTB1_000016 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - Healthy/Control NC1 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
+/. - c.707delA r.(?) p.(Asn236ThrfsTer11) Both (homozygous) - pathogenic g.50126319del g.49552183del RCBTB1 c.[707del];[707del]; p.(Asn236ThrfsTer11) - RCBTB1_000016 homozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0.00231; GnomAD_exome_East: 0.00146; GnomAD_All: 0.000113 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F171 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.707delA r.(?) p.(Asn236ThrfsTer11) Both (homozygous) - pathogenic g.50126319del g.49552183del RCBTB1 c.[707del];[707del]; p.(Asn236ThrfsTer11) - RCBTB1_000016 homozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0.00231; GnomAD_exome_East: 0.00146; GnomAD_All: 0.000113 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F238 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.707delA r.(?) p.(Asn236ThrfsTer11) Both (homozygous) - pathogenic g.50126319del g.49552183del RCBTB1 c.[707del];[707del]; p.(Asn236ThrfsTer11) - RCBTB1_000016 homozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0.00231; GnomAD_exome_East: 0.00146; GnomAD_All: 0.000113 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F282 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. 7i c.711+2T>C r.spl? p.(?) Parent #2 - pathogenic g.50126312A>G - c.711+2T>C - RCBTB1_000045 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
-/. 8 c.783_786del r.(?) p.(Tyr262Glyfs*12) Unknown - benign g.50125530_50125533del - c.783_786delATAT - RCBTB1_000035 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 9948 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
+?/. - c.854+1G>T r.spl? p.? Unknown - likely pathogenic g.50125461C>A - RCBTB1(NM_001352506.1):c.275+1G>T, RCBTB1(NM_001352506.2):c.275+1G>T - RCBTB1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.854+1G>T r.spl? p.? Unknown - likely pathogenic g.50125461C>A - RCBTB1(NM_001352506.1):c.275+1G>T, RCBTB1(NM_001352506.2):c.275+1G>T - RCBTB1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.891G>A r.(?) p.(Thr297=) Unknown - likely benign g.50123748C>T g.49549612C>T RCBTB1(NM_001352506.2):c.312G>A (p.T104=), RCBTB1(NM_018191.3):c.891G>A (p.T297=) - RCBTB1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.891G>A r.(?) p.(Thr297=) Unknown - likely benign g.50123748C>T g.49549612C>T RCBTB1(NM_001352506.2):c.312G>A (p.T104=), RCBTB1(NM_018191.3):c.891G>A (p.T297=) - RCBTB1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.905_906insTT r.(?) p.(Gln303Cysfs*17) Parent #2 - pathogenic g.50123733_50123734insAA - c.170delG and c.905_906insTT - RCBTB1_000034 - PubMed: Yang 2020 - - Unknown - - - - - DNA SEQ-NG, SEQ - - retinal disease 16755 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
+/. - c.919G>A r.(?) p.(Val307Met) Both (homozygous) - pathogenic (recessive) g.50123720C>T g.49549584C>T - - RCBTB1_000002 - PubMed: Coppieters 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - - retinal disease 27486781-FamF2 PubMed: Coppieters 2016 2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents/relatives F;M - Italy - - - - - 3 Johan den Dunnen
+/. - c.919G>A r.(?) p.(Val307Met) Both (homozygous) - pathogenic (recessive) g.50123720C>T g.49549584C>T - - RCBTB1_000002 - PubMed: Coppieters 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease 27486781-FamF3 PubMed: Coppieters 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Greece - - - - - 1 Johan den Dunnen
?/. 9 c.919G>A r.(?) p.(Val307Met) Both (homozygous) - VUS g.50123720C>T - c.919G>A - RCBTB1_000002 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.930G>T r.(?) p.(Trp310Cys) Both (homozygous) - pathogenic (recessive) g.50123709C>A g.49549573C>A - - RCBTB1_000003 - PubMed: Coppieters 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - - retinal disease 27486781-FamF4 PubMed: Coppieters 2016 3-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives F;M - Greece - - - - - 4 Johan den Dunnen
+?/. - c.930G>T r.(?) p.(Trp310Cys) Parent #1 - likely pathogenic g.50123709C>A g.49549573C>A RCBTB1, variant 1: c.930G>T/p.W310C, variant 2: c.930G>T/p.W310C - RCBTB1_000003 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1121 PubMed: Weisschuh 2020 Filing key number: 765, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
-/. - c.951C>G r.(?) p.(Ser317=) Unknown - benign g.50123688G>C g.49549552G>C RCBTB1(NM_018191.3):c.951C>G (p.S317=) - RCBTB1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.951C>T r.(?) p.(Ser317=) Unknown - benign g.50123688G>A g.49549552G>A RCBTB1(NM_001352506.1):c.372C>T (p.S124=), RCBTB1(NM_018191.4):c.951C>T (p.S317=) - RCBTB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.951C>T r.(?) p.(Ser317=) Unknown - likely benign g.50123688G>A - RCBTB1(NM_001352506.1):c.372C>T (p.S124=), RCBTB1(NM_018191.4):c.951C>T (p.S317=) - RCBTB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.973C>T r.(?) p.(His325Tyr) Both (homozygous) - pathogenic (recessive) g.50123666G>A g.49549530G>A - - RCBTB1_000001 - PubMed: Coppieters 2016 - rs200826424 Germline yes - - - - DNA SEQ-NG-I peripheral blood leukocytes WES EVR;FEVR, retinal disease F1 V:1 PubMed: Coppieters 2016 5 generation consanguineous family, 3 affected F yes Belgium Turkish - - - - 3 Jasmine Chen
?/. - c.973C>T r.(?) p.(His325Tyr) Unknown ACMG VUS g.50123666G>A g.49549530G>A - - RCBTB1_000001 ACMG PM2, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-843 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
?/. - c.973C>T r.(?) p.(His325Tyr) Unknown ACMG VUS g.50123666G>A g.49549530G>A - - RCBTB1_000001 ACMG PM2, PP5; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MISC-301 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
-?/. - c.1045+11G>C r.(=) p.(=) Unknown - likely benign g.50123583C>G - RCBTB1(NM_001352506.2):c.466+11G>C - RCBTB1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1045+2280_1045+2282dup r.(=) p.(=) Unknown - benign g.50121322_50121324dup - RCBTB1(NM_001352506.2):c.466+2280_466+2282dupTTT - RCBTB1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1045+2281_1045+2282dup r.(=) p.(=) Unknown - benign g.50121323_50121324dup - RCBTB1(NM_001352506.2):c.466+2281_466+2282dupTT - RCBTB1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1045+2282dup r.(=) p.(=) Unknown - benign g.50121324dup - RCBTB1(NM_001352506.2):c.466+2282dupT - RCBTB1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1046-11G>A r.(=) p.(=) Unknown - benign g.50119010C>T g.49544874C>T RCBTB1(NM_018191.4):c.1046-11G>A - RCBTB1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1112A>G r.(?) p.(Asp371Gly) Unknown - VUS g.50118933T>C g.49544797T>C RCBTB1(NM_018191.3):c.1112A>G (p.D371G) - RCBTB1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 10 c.1123C>T r.(?) p.(Arg375*) Unknown - benign g.50118922G>A - c.1123C>T - RCBTB1_000033 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 6237 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
+/. - c.1151A>G r.(?) p.(His384Arg) Both (homozygous) - pathogenic (recessive) g.50118894T>C g.49544758T>C - - RCBTB1_000004 - PubMed: Coppieters 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease 27486781-FamF5 PubMed: Coppieters 2016 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Algeria - - - - - 1 Johan den Dunnen
+/. - c.1164G>T r.(?) p.(Leu388Phe) Both (homozygous) - pathogenic (recessive) g.50118881C>A g.49544745C>A - - RCBTB1_000006 - PubMed: Coppieters 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease 27486781-FamF6 PubMed: Coppieters 2016 3-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. 10i c.1172+1G>A r.spl p.(Glu349Glyfs*17) Maternal (inferred) - pathogenic (!) g.50118872C>T g.49544736C>T - - RCBTB1_000015 variant is pathogenic (dominant) but with a reduced penetrance (unaffected carrier parents) PubMed: Wu 2016 - - Germline ? - - - - DNA SEQ-NG-I - WES EVR;FEVR E9 III-2 PubMed: Wu 2016 family of 3-generations, 2 affected M no Taiwan - - - - - 2 Jasmine Chen
+/. 10i c.1172+1G>A r.spl p.(Glu349Glyfs*17) Maternal (inferred) - pathogenic (!) g.50118872C>T g.49544736C>T - - RCBTB1_000015 variant is pathogenic (dominant) but with a reduced penetrance (unaffected carrier parents) PubMed: Wu 2016 - - Germline ? - - - - DNA SEQ-NG-I - WES EVR;FEVR E9 III-4 PubMed: Wu 2016 3 generation family, 2 affected M no Taiwan - - - - right eye intraocular lens implantation 1 Jasmine Chen
-/. 10i c.1172+1G>C r.spl? p.? Unknown - benign g.50118872C>G - c.1172+1G>C - RCBTB1_000032 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 6540 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
?/. - c.1202C>T r.(?) p.(Ser401Leu) Both (homozygous) - VUS g.50115934G>A g.49541798G>A - - RCBTB1_000005 - PubMed: Coppieters 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease 27486781-FamF5 PubMed: Coppieters 2016 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Algeria - - - - - 1 Johan den Dunnen
-/. 11 c.1262_1263del r.(?) p.(Tyr421Serfs*31) Unknown - benign g.50115873_50115874del - c.1262_1263delAT - RCBTB1_000031 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 16538 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-/. 11 c.1262_1263del r.(?) p.(Tyr421Serfs*31) Unknown - benign g.50115873_50115874del - c.1262_1263delAT - RCBTB1_000031 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - Healthy/Control NC2, NC3 PubMed: Yang 2020 - - - - - - - - - 2 LOVD
-/. - c.1287C>T r.(?) p.(Tyr429=) Unknown - benign g.50115849G>A g.49541713G>A RCBTB1(NM_018191.4):c.1287C>T (p.Y429=) - RCBTB1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1383C>T r.(?) p.(His461=) Unknown - likely benign g.50115084G>A - RCBTB1(NM_001352506.1):c.804C>T (p.H268=) - RCBTB1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 12 c.1428del r.(?) p.(Ser477Leufs*11) Unknown - benign g.50115039del - c.1428delC - RCBTB1_000030 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease 12790 PubMed: Yang 2020 - - - - - - - - - 1 LOVD
-?/. - c.1455+12A>G r.(=) p.(=) Unknown - likely benign g.50115000T>C - RCBTB1(NM_001352504.2):c.*3A>G - RCBTB1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1490A>G r.(?) p.(Asn497Ser) Unknown - VUS g.50108364T>C g.49534228T>C RCBTB1(NM_018191.4):c.1490A>G (p.N497S) - RCBTB1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1496T>G r.(?) p.(Leu499Trp) Unknown - VUS g.50108358A>C - RCBTB1(NM_001352506.1):c.917T>G (p.L306W) - RCBTB1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1498del r.(?) p.(Thr500Glnfs*17) Unknown - pathogenic g.50108356del - RCBTB1(NM_001352506.1):c.919delA (p.T307Qfs*17) - RCBTB1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5464G>T r.(=) p.(=) Unknown - VUS g.50102794C>A g.49528658C>A PHF11(NM_001040443.1):c.989C>A (p.(Ser330Tyr)) - PHF11_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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