Full data view for gene RPS26

Information The variants shown are described using the NM_001029.3 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-22C>G r.(?) p.(=) Both (homozygous) - VUS g.56435929C>G g.56042145C>G - - RPS26_000042 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-22C>G r.(?) p.(=) Unknown - VUS g.56435929C>G g.56042145C>G - - RPS26_000042 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.0 r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_56435686)_(56438007_)del - - - RPS26_000049 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, PCRq, SEQ-NG - WES DBA 30503522-PatDBA003 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_56435686)_(56438007_)del - - - RPS26_000049 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, PCRq, SEQ-NG - WES DBA 30503522-PatDBA013 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_56435686)_(56438007_)del - - - RPS26_000049 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, PCRq, SEQ-NG - WES DBA 30503522-PatDBA139 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_56435686)_(56438007_)del - - - RPS26_000049 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, PCRq, SEQ-NG - WES DBA 30503522-PatDBA222 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_56435686)_(56438007_)del - - - RPS26_000049 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA arrayCGH, SEQ - - DBA 30503522-PatDBA342 PubMed: Ulirsch 2018 DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.0? Parent #1 - pathogenic (dominant) g.56435951A>G g.56042167A>G - - RPS26_000002 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA033 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.0? Parent #1 - pathogenic (dominant) g.56435951A>G g.56042167A>G - - RPS26_000002 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA094 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.0? Parent #1 - pathogenic (dominant) g.56435951A>G g.56042167A>G - - RPS26_000002 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA125 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.0? Parent #1 - pathogenic (dominant) g.56435951A>G g.56042167A>G - - RPS26_000002 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA225 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.0? Parent #1 - pathogenic (dominant) g.56435951A>G g.56042167A>G - - RPS26_000002 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA300 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.1A>G r.(?) p.0? Parent #1 - pathogenic (dominant) g.56435951A>G g.56042167A>G - - RPS26_000002 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA301 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.1A>G r.(?) p.0? Parent #1 - pathogenic (dominant) g.56435951A>G g.56042167A>G - - RPS26_000002 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA326 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+?/? ? c.1A>G r.(?) p.(Met1?) Unknown - pathogenic (dominant) g.56435951A>G g.56042167A>G Met1Val - RPS26_000002 - dear8LOV2v - - De novo - - - - - DNA SEQ - - DBA Pat7 PubMed: Doherty 2010 2-generation family, affected father/daughter, father M - - - - - - - 2 LOVD
+/. - c.1A>G r.(?) p.(Met1?) Paternal (confirmed) - pathogenic (dominant) g.56435951A>G g.56042167A>G Met1Val - RPS26_000002 - PubMed: Doherty 2010 - - Germline - - - - - DNA SEQ - - DBA Pat7d PubMed: Doherty 2010 daughter F - - - - - - - 1 LOVD
+/. - c.1A>G r.(?) p.(Met1?) Unknown - pathogenic (dominant) g.56435951A>G g.56042167A>G Met1Val - RPS26_000002 - PubMed: Doherty 2010 - - De novo - - - - - DNA SEQ - - DBA Pat8 PubMed: Doherty 2010 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 LOVD
+/. - c.1A>G r.(?) p.(Met1?) Unknown - pathogenic (dominant) g.56435951A>G g.56042167A>G Met1Val - RPS26_000002 - PubMed: Doherty 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat9 PubMed: Doherty 2010 2-generation family, affected father/daughter M - - - - - - - 2 LOVD
+/. - c.1A>G r.(?) p.(Met1?) Paternal (confirmed) - pathogenic (dominant) g.56435951A>G g.56042167A>G Met1Val - RPS26_000002 - PubMed: Doherty 2010 - - Germline - - - - - DNA SEQ - - DBA Pat9d PubMed: Doherty 2010 daughter F - - - - - - - 1 LOVD
+/. - c.1A>G r.(?) p.(Met1?) Unknown - pathogenic (dominant) g.56435951A>G g.56042167A>G Met1Val - RPS26_000002 - PubMed: Doherty 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat10 PubMed: Doherty 2010 - M - - - - - - - 1 LOVD
+/. - c.1A>T r.(?) p.0? Parent #1 - pathogenic (dominant) g.56435951A>T g.56042167A>T - - RPS26_000001 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA040 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.1A>T r.(?) p.(Met1?) Unknown - pathogenic (dominant) g.56435951A>T g.56042167A>T Met1Leu - RPS26_000001 - PubMed: Doherty 2010 - - De novo - - - - - DNA SEQ - - DBA Pat6 2-generation family, 1 affected, unaffected non-carrier parents PubMed: Doherty 2010 M - - - - - - - 1 LOVD
+/. - c.2T>C r.(?) p.0? Parent #1 - pathogenic (dominant) g.56435952T>C g.56042168T>C - - RPS26_000052 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA043 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.2T>G r.(?) p.(Met1?) Parent #1 - pathogenic (dominant) g.56435952T>G g.56042168T>G 1T>G, Met1Arg - RPS26_000003 - PubMed: Doherty 2010 - - Germline - - - - - DNA SEQ - - DBA Pat11 PubMed: Doherty 2010 familial M - - - - - - - 1 LOVD
+/. - c.3+1G>A r.spl p.? Parent #1 - pathogenic (dominant) g.56435954G>A g.56042170G>A - - RPS26_000008 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA194 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.3+1G>A r.spl p.? Parent #1 - pathogenic (dominant) g.56435954G>A g.56042170G>A - - RPS26_000008 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA319 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 1i c.3+1G>A r.spl p.? Parent #1 - likely pathogenic g.56435954G>A g.56042170G>A IVS1+1g>a - RPS26_000008 - PubMed: Doherty 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat16 PubMed: Doherty 2010 - M - - - - - - - 1 LOVD
+/. - c.3+1G>C r.spl p.? Parent #1 - pathogenic (dominant) g.56435954G>C g.56042170G>C - - RPS26_000007 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA088 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.3+1G>C r.spl p.? Parent #1 - pathogenic (dominant) g.56435954G>C g.56042170G>C - - RPS26_000007 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA288 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 1i c.3+1G>C r.spl p.? Unknown - pathogenic (dominant) g.56435954G>C g.56042170G>C IVS1+1g>c - RPS26_000007 - PubMed: Doherty 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat15 PubMed: Doherty 2010 - M - - - - - - - 1 LOVD
+/. - c.3+1G>T r.spl p.? Parent #1 - pathogenic (dominant) g.56435954G>T g.56042170G>T - - RPS26_000009 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA002 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.3+1G>T r.spl p.? Parent #1 - pathogenic (dominant) g.56435954G>T g.56042170G>T - - RPS26_000009 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA205 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.3+1_3+3del r.spl p.(Met1?) Parent #1 - pathogenic (dominant) g.56435954_56435956del g.56042170_56042172del g.56435952_56435954del - RPS26_000016 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA061 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 2i c.3+2T>G r.spl p.? Unknown - pathogenic (dominant) g.56435955T>G - IVS1+1g>t, intron 2 - RPS26_000054 variant description not certain, conflicting descriptions PubMed: Doherty 2010 - - De novo - - - - - DNA SEQ - - DBA Pat17 PubMed: Doherty 2010 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 LOVD
+?/. - c.3+5G>C r.spl? p.? Unknown - likely pathogenic g.56435958G>C - RPS26(NM_001029.5):c.3+5G>C - RPS26_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4-8T>A r.[3_4ins4-6_4-1,=] p.(=) Parent #1 - pathogenic (dominant) g.56436201T>A g.56042417T>A - - RPS26_000017 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA091 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.4-3C>G r.[3_4ins[3+1_4-4;gag];62_63ins62+1_63-1] p.? Parent #1 - pathogenic (dominant) g.56436206C>G g.56042422C>G - - RPS26_000047 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA219 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.4-2A>T r.spl p.? Parent #1 - pathogenic (dominant) g.56436207A>T g.56042423A>T - - RPS26_000018 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA042 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_4-2)_(181+2_?)del r.? p.? Unknown - likely pathogenic g.(?_56436207)_(56436388_?)del - - - RPS26_000019 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel66 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_4-2)_(181+2_?)del r.? p.? Unknown - likely pathogenic g.(?_56436207)_(56436388_?)del - - - RPS26_000019 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel67 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_4-2)_(181+2_?)del r.? p.? Unknown - likely pathogenic g.(?_56436207)_(56436388_?)del - - - RPS26_000019 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel68 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_4-2)_(181+2_?)del r.? p.? Unknown - likely pathogenic g.(?_56436207)_(56436388_?)del - - - RPS26_000019 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel69 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+/. - c.9_12del r.(?) p.(Lys4Glufs*40) Parent #1 - pathogenic (dominant) g.56436214_56436217del g.56042430_56042433del g.56436211_56436214del - RPS26_000020 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA169 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.9_12del r.(?) p.(Lys4Glufs*40) Parent #1 - pathogenic (dominant) g.56436214_56436217del g.56042430_56042433del g.56436211_56436214del - RPS26_000020 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA227 PubMed: Ulirsch 2018 DBA case, uunaffected parents - - - - - - - - 1 Johan den Dunnen
+/. - c.9_12del r.(?) p.(Lys4Glufs*40) Parent #1 - pathogenic (dominant) g.56436214_56436217del g.56042430_56042433del g.56436211_56436214del - RPS26_000020 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA272 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.13del r.(?) p.(Arg5Glufs*40) Parent #1 - pathogenic (dominant) g.56436218del g.56042434del g.56436215del - RPS26_000012 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA187 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.13del r.(?) p.(Arg5Glufs*40) Parent #1 - pathogenic (dominant) g.56436218del g.56042434del g.56436215del - RPS26_000012 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA188 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.17_20del r.(?) p.(Arg6Thrfs*38) Parent #1 - pathogenic (dominant) g.56436222_56436225del g.56042438_56042441del g.56436219_56436222del - RPS26_000022 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA069 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.31dup r.(?) p.(Ala11Glyfs*15) Unknown - pathogenic (dominant) g.56436236dup g.56042452dup 31_32insG - RPS26_000006 - PubMed: Doherty 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat14 PubMed: Doherty 2010 - F - - - - - - - 1 LOVD
+/. - c.78_79del r.(?) p.(Ala27Profs*10) Parent #1 - pathogenic (dominant) g.56436283_56436284del g.56042499_56042500del g.56436281_56436282del - RPS26_000011 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA095 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.78_79del r.(?) p.(Ala27Profs*10) Parent #1 - pathogenic (dominant) g.56436283_56436284del g.56042499_56042500del g.56436281_56436282del - RPS26_000011 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA170 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.95_98del r.(?) p.(Lys32Thrfs*12) Parent #1 - pathogenic (dominant) g.56436300_56436303del g.56042516_56042519del g.56436299_56436302del - RPS26_000024 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA209 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.97G>A r.(?) p.(Asp33Asn) Parent #1 - pathogenic (dominant) g.56436302G>A g.56042518G>A - - RPS26_000004 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA018 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.97G>A r.(?) p.(Asp33Asn) Unknown - pathogenic (dominant) g.56436302G>A g.56042518G>A Asp33Asn - RPS26_000004 - PubMed: Doherty 2010 - - De novo - - - - - DNA SEQ - - DBA Pat12 PubMed: Doherty 2010 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 LOVD
+/. - c.120_121del r.(?) p.(Ile41Serfs*14) Parent #1 - pathogenic (dominant) g.56436325_56436326del g.56042541_56042542del - - RPS26_000026 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ - - DBA 30503522-PatDBA341 PubMed: Ulirsch 2018 DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.154_155insT r.(?) p.(Asp52Valfs*4) Parent #1 - pathogenic (dominant) g.56436359_56436360insT g.56042575_56042576insT - - RPS26_000027 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA024 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.181+1del r.spl p.? Unknown ACMG pathogenic (dominant) g.56436387del g.56042603del c.181+1delG - RPS26_000055 ACMG PVS1, PM2, PP3, PP5 PubMed: Marinakis 2021 RCV001194602 - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 9071 PubMed: Marinakis 2021 - M - Greece - - - - - 1 Jan Traeger-Synodinos
?/. - c.181+86T>G r.(=) p.(=) Both (homozygous) - VUS g.56436472T>G g.56042688T>G - - RPS26_000044 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.181+86T>G r.(=) p.(=) Both (homozygous) - VUS g.56436472T>G g.56042688T>G - - RPS26_000044 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.182-8T>G r.181_182ins182-7_182-1 p.(=) Parent #1 - pathogenic (dominant) g.56437139T>G g.56043355T>G - - RPS26_000028 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA216 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.219C>G r.(?) p.(Tyr73*) Parent #1 - pathogenic (dominant) g.56437184C>G g.56043400C>G - - RPS26_000029 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA075 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.231T>G r.(?) p.(Cys77Trp) Parent #1 - pathogenic (dominant) g.56437196T>G g.56043412T>G - - RPS26_000030 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA073 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.259C>T r.(?) p.(Arg87*) Parent #1 - pathogenic (dominant) g.56437224C>T g.56043440C>T - - RPS26_000031 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA084 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.312+1G>C r.spl p.? Parent #1 - pathogenic (dominant) g.56437278G>C g.56043494G>C - - RPS26_000033 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA240 PubMed: Ulirsch 2018 DBA case, uunaffected parents - - - - - - - - 1 Johan den Dunnen
+/. - c.312+1G>T r.spl p.? Parent #1 - pathogenic (dominant) g.56437278G>T g.56043494G>T - - RPS26_000032 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA051 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
?/. - c.313-293dup r.(=) p.(=) Unknown - VUS g.56437610dup g.56043826dup - - RPS26_000046 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.313-217C>T r.(=) p.(=) Unknown - VUS g.56437686C>T g.56043902C>T - - RPS26_000041 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/. - c.(?_313-2)_(*2_?)del r.? p.? Unknown - likely pathogenic g.(?_56437901)_(56437940_?)del - - - RPS26_000034 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel70 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
-/. - c.327T>A r.(?) p.(Arg109=) Unknown - benign g.56437917T>A - RPS26(NM_001029.3):c.327T>A (p.(=)) - RPS26_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.344T>C r.(?) p.(Met115Thr) Unknown - pathogenic (dominant) g.56437934T>C g.56044150T>C Met115Thr - RPS26_000005 - PubMed: Doherty 2010 - - De novo - - - - - DNA SEQ - - DBA Pat13 PubMed: Doherty 2010 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 LOVD
+?/. - c.344T>C r.(?) p.(Met115Thr) Unknown - likely pathogenic g.56437934T>C g.56044150T>C RPS26(NM_001029.5):c.344T>C (p.M115T) - RPS26_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*49T>G r.*59_*60ins(*61_?) p.(=) Parent #1 - pathogenic (dominant) g.56437987T>G g.56044203T>G - - RPS26_000048 variant affects polyA-addition signal yielding read-through RNA transcrption and reduced mRNA levels PubMed: Ulirsch 2018 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA163 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
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