Full data view for gene RPL5

Information The variants shown are described using the NM_000969.3 transcript reference sequence.

151 entries on 2 pages. Showing entries 1 - 100.
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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.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.93297672A>G g.92832115A>G - - RPL5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.1A>G r.(?) p.(Met1?) Unknown - pathogenic (dominant) g.93297672A>G g.92832115A>G - - RPL5_000001 - PubMed: Boria 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pl5_1 PubMed: Boria 2010 - F - - - - - - - 1 Johan den Dunnen
+/. - c.2T>C r.(?) p.0? Parent #1 - pathogenic (dominant) g.93297673T>C g.92832116T>C - - RPL5_000004 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA235 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.2T>G r.(?) p.0? Parent #1 - pathogenic (dominant) g.93297673T>G g.92832116T>G - - RPL5_000003 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA115 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.2T>G r.(?) p.0? Parent #1 - pathogenic (dominant) g.93297673T>G g.92832116T>G - - RPL5_000003 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA116 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. 1 c.2T>G r.(?) p.(Met1?) Paternal (confirmed) - pathogenic (dominant) g.93297673T>G g.92832116T>G - - RPL5_000003 - PubMed: Boria 2010 - - Germline - - - - - DNA SEQ - - DBA Pl5_2 PubMed: Boria 2010 family, affected father/daughter F - - - - - - - 2 Johan den Dunnen
+/. 1 c.2T>G r.(?) p.(Met1?) Parent #1 - pathogenic (dominant) g.93297673T>G g.92832116T>G - - RPL5_000003 - PubMed: Boria 2010 - - Germline - - - - - DNA SEQ - - DBA Pl5_2father PubMed: Boria 2010 father M - - - - - - - 1 Johan den Dunnen
+/. - c.3G>A r.(?) p.0? Parent #1 - pathogenic (dominant) g.93297674G>A g.92832117G>A - - RPL5_000005 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA008 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.3G>A r.(?) p.0? Parent #1 - pathogenic (dominant) g.93297674G>A g.92832117G>A - - RPL5_000005 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA282 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 1 c.3G>A r.(?) p.(Met1?) Unknown - pathogenic (dominant) g.93297674G>A g.92832117G>A - - RPL5_000005 - PubMed: Konno 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat55 PubMed: Konno 2010 - F - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.3G>C r.(?) p.(Met1?) Unknown - pathogenic (dominant) g.93297674G>C g.92832117G>C - - RPL5_000047 - PubMed: Quarello 2010 - - Unknown - - - - - DNA SEQ - - DBA RPL5-Pat1 PubMed: Quarello 2010 - F - Italy - - - - - 1 Johan den Dunnen
+/. 1 c.3G>T r.(?) p.(Met1?) Unknown - pathogenic (dominant) g.93297674G>T g.92832117G>T - - RPL5_000048 - PubMed: Konno 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat41 PubMed: Konno 2010 - F - Japan - - - - - 1 Johan den Dunnen
+/. - c.3+1G>T r.spl p.? Parent #1 - pathogenic (dominant) g.93297675G>T g.92832118G>T - - RPL5_000006 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA195 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.3+1G>T r.spl p.? Parent #1 - pathogenic (dominant) g.93297675G>T g.92832118G>T - - RPL5_000006 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA197 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
-?/. - c.3+3G>C r.spl? p.? Unknown - likely benign g.93297677G>C g.92832120G>C RPL5(NM_000969.3):c.3+3G>C (p.?), RPL5(NM_000969.5):c.3+3G>C - FAM69A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3+3G>C r.spl? p.? Unknown - likely benign g.93297677G>C - RPL5(NM_000969.3):c.3+3G>C (p.?), RPL5(NM_000969.5):c.3+3G>C - FAM69A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3+3G>C r.spl? p.? Unknown - likely benign g.93297677G>C - RPL5(NM_000969.3):c.3+3G>C (p.?), RPL5(NM_000969.5):c.3+3G>C - FAM69A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.3+3G>C r.spl p.? Maternal (confirmed) - pathogenic (dominant) g.93297677G>C g.92832120G>C - - FAM69A_000009 - PubMed: Quarello 2010 - - Germline - - - - - DNA SEQ - - DBA RPL5-Pat10 PubMed: Quarello 2010 2-generation family, affected mother/son M - Italy - - - - - 2 Johan den Dunnen
+?/. - c.(?_4-419)_(4-305_?)del r.? p.? Unknown - likely pathogenic g.(?_93298527)_(93298641_?)del - - - RPL5_000007 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel21 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_4-419)_(4-305_?)del r.? p.? Unknown - likely pathogenic g.(?_93298527)_(93298641_?)del - - - RPL5_000007 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel22 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_4-2)_(73+2_?)del r.? p.? Unknown - likely pathogenic g.(?_93298944)_(93299017_?)del - - - RPL5_000008 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel23 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+/. - c.4-1G>A r.spl p.? Parent #1 - pathogenic (dominant) g.93298945G>A g.92833388G>A - - RPL5_000009 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA037 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 2 c.39dup r.(?) p.(Lys14Ter) Unknown - pathogenic (dominant) g.93298981dup g.92833424dup 39_40insT - RPL5_000049 - PubMed: Quarello 2010 - - Unknown - - - - - DNA SEQ - - DBA RPL5-Pat8 PubMed: Quarello 2010 - M - Italy - - - - - 1 Johan den Dunnen
+/. 2 c.39dup r.(?) p.(Lys14Ter) Unknown - pathogenic (dominant) g.93298981dup g.92833424dup - - RPL5_000049 - PubMed: Konno 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat65 PubMed: Konno 2010 - F - Japan - - - - - 1 Johan den Dunnen
+/. - c.40_41del r.(?) p.(Lys14Glufs*7) Parent #1 - pathogenic (dominant) g.93298982_93298983del g.92833425_92833426del - - RPL5_000010 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA248 PubMed: Ulirsch 2018 DBA case, uunaffected parents - - - - - - - - 1 Johan den Dunnen
+/. - c.47dup r.(?) p.(Tyr16*) Parent #1 - pathogenic (dominant) g.93298989dup g.92833432dup g.93298988_93298989insA - RPL5_000011 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA114 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.47dup r.(?) p.(Tyr16*) Parent #1 - pathogenic (dominant) g.93298989dup g.92833432dup g.93298988_93298989insA - RPL5_000011 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA231 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. 2 c.47dup r.(?) p.(Tyr16Ter) Unknown - pathogenic (dominant) g.93298989dup g.92833432dup 46_47 insA - RPL5_000011 - PubMed: Gazda 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat5 PubMed: Gazda 2008 - M - - - - - - - 1 Johan den Dunnen
+/. - c.48C>A r.(?) p.(Tyr16*) Parent #1 - pathogenic (dominant) g.93298990C>A g.92833433C>A - - RPL5_000012 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA068 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.48C>A r.(?) p.(Tyr16*) Parent #1 - pathogenic (dominant) g.93298990C>A g.92833433C>A - - RPL5_000012 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA119 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.48C>A r.(?) p.(Tyr16*) Parent #1 - pathogenic (dominant) g.93298990C>A g.92833433C>A - - RPL5_000012 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA126 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 2 c.48C>A r.(?) p.(Tyr16Ter) Unknown - pathogenic (dominant) g.93298990C>A g.92833433C>A - - RPL5_000012 - PubMed: Boria 2010 - - De novo - - - - - DNA SEQ - - DBA Pl5_3 PubMed: Boria 2010 - M - - - - - - - 1 Johan den Dunnen
+/. 2 c.48C>A r.(?) p.(Tyr16Ter) Unknown ACMG pathogenic g.93298990C>A g.92833433C>A - - RPL5_000012 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat99,1 PubMed: Stray-Pedersen 2017 - F - Norway - - - - - 1 Johan den Dunnen
+/. 2 c.48C>G r.(?) p.(Tyr16Ter) Unknown - pathogenic (dominant) g.93298990C>G g.92833433C>G - - RPL5_000050 - PubMed: Gazda 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat1 PubMed: Gazda 2008 2-generation family, 1 affected, unaffected non-carrier mother F - - - - - - - 1 Johan den Dunnen
+/. - c.49C>T r.(?) p.(Gln17*) Parent #1 - pathogenic (dominant) g.93298991C>T g.92833434C>T - - RPL5_000013 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA279 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.67C>T r.(?) p.(Arg23*) Parent #1 - pathogenic (dominant) g.93299009C>T g.92833452C>T - - RPL5_000014 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA030 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.67C>T r.(?) p.(Arg23*) Parent #1 - pathogenic (dominant) g.93299009C>T g.92833452C>T - - RPL5_000014 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA166 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.67C>T r.(?) p.(Arg23*) Parent #1 - pathogenic (dominant) g.93299009C>T g.92833452C>T - - RPL5_000014 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA263 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 2 c.67C>T r.(?) p.(Arg23Ter) Unknown - pathogenic (dominant) g.93299009C>T g.92833452C>T - - RPL5_000014 - PubMed: Gazda 2008 - - De novo - - - - - DNA SEQ - - DBA Pat2 PubMed: Gazda 2008 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.73G>A r.(?) p.(Glu25Lys) Parent #1 - pathogenic (dominant) g.93299015G>A g.92833458G>A - - RPL5_000016 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA270 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.73G>T r.(?) p.(Glu25*) Parent #1 - pathogenic (dominant) g.93299015G>T g.92833458G>T - - RPL5_000015 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA259 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.73+2T>G r.spl p.? Parent #1 - pathogenic (dominant) g.93299017T>G g.92833460T>G - - RPL5_000017 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA080 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 2i c.73+2T>G r.spl p.? Unknown - pathogenic (dominant) g.93299017T>G g.92833460T>G IVS2 +2t>g - RPL5_000017 - PubMed: Gazda 2008 - - De novo - - - - - DNA SEQ - - DBA Pat17 PubMed: Gazda 2008 2-generation family, 1 affected, unaffected non-carrier parents/relatives M - - - - - - - 1 Johan den Dunnen
+/. 2i c.74-1G>A r.spl p.? Unknown - pathogenic (dominant) g.93299101G>A g.92833544G>A - - RPL5_000051 - PubMed: Cmejla 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA CZUH04mother PubMed: Cmejla 2009 - F - Czech Republic - - - - - 2 Johan den Dunnen
+/. 2i c.74-1G>A r.spl p.(Glu25Glyfs*2) Maternal (confirmed) - pathogenic (dominant) g.93299101G>A g.92833544G>A - - RPL5_000051 - PubMed: Cmejla 2009 - - Germline - - - - - DNA SEQ - - DBA CZUH04 PubMed: Cmejla 2009 - M - Czech Republic - - - - - 1 Johan den Dunnen
+?/. - c.83_86delinsTGG r.(?) p.(Thr28Metfs*10) Unknown - likely pathogenic (recessive) g.93299111_93299114delinsTGG g.92833554_92833557delinsTGG 83_86delCTGAinsTGG - RPL5_000052 - PubMed: Tsangaris 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+/. - c.89_90del r.(?) p.(Tyr30Leufs*11) Parent #1 - pathogenic (dominant) g.93299117_93299118del g.92833560_92833561del g.93299116_93299117del - RPL5_000018 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA264 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 3 c.91del r.(?) p.(Tyr31MetfsTer7) Unknown - pathogenic (dominant) g.93299119del g.92833562del 91delT - RPL5_000053 - PubMed: Boria 2010 - - De novo - - - - - DNA SEQ - - DBA Pl5_4 PubMed: Boria 2010 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.95C>T r.(?) p.(Ala32Val) Unknown - likely pathogenic g.93299123C>T - - - RPL5_000042 - - - - De novo - - - - - DNA SEQ-NG - - DBA6 93 - - M - China - - - - - 1 Sha Hong
+/. - c.134_138del r.(?) p.(Asn45Thrfs*66) Unknown - pathogenic (dominant) g.93299162_93299166del - 134_138delACACA - RPL5_000044 - - - - De novo - - - - - DNA SEQ - - DBA patient PubMed: Quarello 2010 - - - Italy - - - - - 1 Johan den Dunnen
+/. 3 c.134_138del r.(?) p.(Asn45ThrfsTer66) Unknown - pathogenic (dominant) g.93299162_93299166del g.92833605_92833609del 134_138delACACA - RPL5_000044 - PubMed: Quarello 2010 - - De novo - - - - - DNA SEQ - - DBA RPL5-Pat3 PubMed: Quarello 2010 2-generation family, 1 affected, unaffected non-carrier parents/relatives F - Italy - - - - - 1 Johan den Dunnen
+/. - c.141dup r.(?) p.(Lys48Glnfs*65) Parent #1 - pathogenic (dominant) g.93299169dup g.92833612dup g.93299166_93299167insC - RPL5_000019 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA065 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.141dup r.(?) p.(Lys48Glnfs*65) Parent #1 - pathogenic (dominant) g.93299169dup g.92833612dup g.93299166_93299167insC - RPL5_000019 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA067 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.143_146del r.(?) p.(Lys48Thrfs*3) Unknown - pathogenic g.93299171_93299174del g.92833614_92833617del 143_146delAATA - RPL5_000041 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. 3 c.145dup r.(?) p.(Tyr49LeufsTer64) Unknown - pathogenic (dominant) g.93299173dup g.92833616dup 145dupT - RPL5_000054 - PubMed: Cmejla 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA CZUH32 PubMed: Cmejla 2009 - F - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.156_159del r.(?) p.(Arg54*) Parent #1 - pathogenic (dominant) g.93299184_93299187del g.92833627_92833630del g.93299183_93299186del - RPL5_000020 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA315 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 3 c.156_159del r.(?) p.(Arg54Ter) Unknown - pathogenic (dominant) g.93299184_93299187del g.92833627_92833630del 156_159 delAGTT - RPL5_000020 - PubMed: Gazda 2008 - - De novo - - - - - DNA SEQ - - DBA Pat6 PubMed: Gazda 2008 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
-/. - c.165G>A r.(?) p.(=) Unknown - benign g.93299193G>A - RPL5(NM_000969.5):c.165G>A (p.(Val55=)) - FAM69A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.169_172del r.(?) p.(Asn57Glufs*12) Parent #1 - pathogenic (dominant) g.93299197_93299200del g.92833640_92833643del g.93299194_93299197del - RPL5_000021 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA017 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.169_172del r.(?) p.(Asn57Glufs*12) Parent #1 - pathogenic (dominant) g.93299197_93299200del g.92833640_92833643del g.93299194_93299197del - RPL5_000021 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA077 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.169_172del r.(?) p.(Asn57Glufs*12) Parent #1 - pathogenic (dominant) g.93299197_93299200del g.92833640_92833643del g.93299194_93299197del - RPL5_000021 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA160 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.169_172del r.(?) p.(Asn57Glufs*12) Parent #1 - pathogenic (dominant) g.93299197_93299200del g.92833640_92833643del g.93299194_93299197del - RPL5_000021 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA193 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 3 c.169_172del r.(?) p.(Asn57GlufsTer12) Unknown - pathogenic (dominant) g.93299197_93299200del g.92833640_92833643del 169_172 delAACA - RPL5_000021 - PubMed: Gazda 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat7 PubMed: Gazda 2008 - M - - - - - - - 1 Johan den Dunnen
+/. 3 c.169_172del r.(?) p.(Asn57GlufsTer12) Unknown - pathogenic (dominant) g.93299197_93299200del g.92833640_92833643del 169_172delAACA - RPL5_000021 - PubMed: Cmejla 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA CZUH41 PubMed: Cmejla 2009 - M - Czech Republic - - - - - 1 Johan den Dunnen
+/. 3 c.169_172del r.(?) p.(Asn57GlufsTer12) Unknown - pathogenic (dominant) g.93299197_93299200del g.92833640_92833643del 169_172delAACA - RPL5_000021 - PubMed: Quarello 2010 - - De novo - - - - - DNA SEQ - - DBA RPL5-Pat4 PubMed: Quarello 2010 2-generation family, 1 affected, unaffected non-carrier parents M - Italy - - - - - 1 Johan den Dunnen
+/. 3 c.169_172del r.(?) p.(Asn57GlufsTer12) Unknown - pathogenic (dominant) g.93299197_93299200del g.92833640_92833643del 169_172delAACA - RPL5_000021 - PubMed: Quarello 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA RPL5-Pat5 PubMed: Quarello 2010 2-generation family, 1 affected, unaffected non-carrier mother F - Italy - - - - - 1 Johan den Dunnen
+/. 3 c.172dup r.(?) p.(Arg58LysfsTer55) Unknown - pathogenic (dominant) g.93299200dup g.92833643dup 172_173insA - RPL5_000055 - PubMed: Boria 2010 - - De novo - - - - - DNA SEQ - - DBA Pl5_6 PubMed: Boria 2010 - M - - - - - - - 1 Johan den Dunnen
+/. - c.173del r.(?) p.(Arg58Lysfs*12) Parent #1 - pathogenic (dominant) g.93299201del g.92833644del - - RPL5_000022 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA334 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 3 c.173del r.(?) p.(Arg58LysfsTer12) Unknown - pathogenic (dominant) g.93299201del g.92833644del 173 delG - RPL5_000022 - PubMed: Gazda 2008 - - De novo - - - - - DNA SEQ - - DBA Pat8 PubMed: Gazda 2008 2-generation family, 1 affected, unaffected non-carrier parents/relatives M - - - - - - - 1 Johan den Dunnen
+/. - c.175_176del r.(?) p.(Asp59Tyrfs*53) Parent #1 - pathogenic (dominant) g.93299203_93299204del g.92833646_92833647del g.93299200_93299201del - RPL5_000023 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA027 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.175_176del r.(?) p.(Asp59Tyrfs*53) Parent #1 - pathogenic (dominant) g.93299203_93299204del g.92833646_92833647del g.93299200_93299201del - RPL5_000023 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA048 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.175_176del r.(?) p.(Asp59Tyrfs*53) Parent #1 - pathogenic (dominant) g.93299203_93299204del g.92833646_92833647del g.93299200_93299201del - RPL5_000023 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA238 PubMed: Ulirsch 2018 DBA case, uunaffected parents - - - - - - - - 1 Johan den Dunnen
+/. 3 c.175_176del r.(?) p.(Asp59TyrfsTer53) Unknown - pathogenic (dominant) g.93299203_93299204del g.92833646_92833647del 173_4 delGA - RPL5_000023 - PubMed: Gazda 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat9 PubMed: Gazda 2008 - M - - - - - - - 1 Johan den Dunnen
+/. 3 c.175_176del r.(?) p.(Asp59TyrfsTer53) Unknown - pathogenic (dominant) g.93299203_93299204del g.92833646_92833647del 173_4 delGA - RPL5_000023 - PubMed: Gazda 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat10 PubMed: Gazda 2008 - M - - - - - - - 1 Johan den Dunnen
+/. 3 c.175_176del r.(?) p.(Asp59TyrfsTer53) Unknown - pathogenic (dominant) g.93299203_93299204del g.92833646_92833647del 173_4 delGA - RPL5_000023 - PubMed: Gazda 2008 - - De novo - - - - - DNA SEQ - - DBA Pat11 PubMed: Gazda 2008 2-generation family, 1 affected, unaffected non-carrier parents/relatives F - - - - - - - 1 Johan den Dunnen
+/. 3 c.175_176del r.(?) p.(Asp59TyrfsTer53) Unknown - pathogenic (dominant) g.93299203_93299204del g.92833646_92833647del 175_176delGA - RPL5_000023 - PubMed: Cmejla 2009 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA CZUH26 PubMed: Cmejla 2009 - F - Czech Republic - - - - - 1 Johan den Dunnen
+?/. - c.175_176delGA r.(?) p.(Asp59TyrfsTer53) Unknown - likely pathogenic (recessive) g.93299203_93299204del g.92833646_92833647del - - RPL5_000023 - PubMed: Tsangaris 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+/. 3 c.183_184del r.(?) p.(Ile61MetfsTer51) Unknown - pathogenic (dominant) g.93299211_93299212del g.92833654_92833655del 183_184delTT - RPL5_000056 - PubMed: Quarello 2010 - - De novo - - - - - DNA SEQ - - DBA RPL5-Pat6 PubMed: Quarello 2010 2-generation family, 1 affected, unaffected non-carrier parents M - Italy - - - - - 1 Johan den Dunnen
+/. - c.189+1G>A r.spl p.? Parent #1 - pathogenic (dominant) g.93299218G>A g.92833661G>A - - RPL5_000024 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA072 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 3i c.189+1G>A r.74_189del p.? Unknown - pathogenic (dominant) g.93299218G>A g.92833661G>A - - RPL5_000024 - PubMed: Quarello 2010 - - Unknown - - - - - DNA SEQ - - DBA RPL5-Pat11 PubMed: Quarello 2010 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.189+1G>T r.spl p.? Parent #1 - pathogenic (dominant) g.93299218G>T g.92833661G>T - - RPL5_000025 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA106 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 3i c.189+1G>T r.spl p.? Unknown - pathogenic (dominant) g.93299218G>T g.92833661G>T IVS3 +1g>t - RPL5_000025 - PubMed: Gazda 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat18 PubMed: Gazda 2008 - M - - - - - - - 1 Johan den Dunnen
+/. - c.189+2dup r.spl p.? Parent #1 - pathogenic (dominant) g.93299219dup g.92833662dup g.93299218_93299219insT - RPL5_000026 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA201 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.190-12_191del r.spl p.? Parent #1 - pathogenic (dominant) g.93300324_93300337del g.92834767_92834780del g.93300323_93300336del - RPL5_000027 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA156 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_190-2)_(324+2_?)del r.? p.? Unknown - likely pathogenic g.(?_93300334)_(93300472_?)del - - - RPL5_000028 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel24 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+/. 4 c.191_204dup r.(?) p.(Ile69LeufsTer6) Unknown - pathogenic (dominant) g.93300337_93300350dup g.92834780_92834793dup 191_204ins14 (Ile64LeufsX10) - RPL5_000045 - PubMed: Boria 2010 - - De novo - - - - - DNA SEQ - - DBA Pl5_7 PubMed: Boria 2010 - F - - - - - - - 1 Johan den Dunnen
+/. - c.208G>T r.(?) p.(Glu70*) Parent #1 - pathogenic (dominant) g.93300354G>T g.92834797G>T - - RPL5_000029 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA132 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 4 c.208G>T r.(?) p.(Glu70Ter) Unknown - pathogenic (dominant) g.93300354G>T g.92834797G>T - - RPL5_000029 - PubMed: Boria 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pl5_8 PubMed: Boria 2010 - F - - - - - - - 1 Johan den Dunnen
+/. 4 c.228C>A r.(?) p.(Cys76Ter) Unknown - pathogenic (dominant) g.93300374C>A g.92834817C>A - - RPL5_000057 - PubMed: Gazda 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat3 PubMed: Gazda 2008 - F - - - - - - - 1 Johan den Dunnen
+/. - c.235dup r.(?) p.(Tyr79Leufs*34) Parent #1 - pathogenic (dominant) g.93300381dup g.92834824dup g.93300380_93300381insT - RPL5_000030 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA142 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.235dup r.(?) p.(Tyr79Leufs*34) Parent #1 - pathogenic (dominant) g.93300381dup g.92834824dup g.93300380_93300381insT - RPL5_000030 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA143 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. 4 c.235dup r.(?) p.(Tyr79LeufsTer34) Maternal (confirmed) - pathogenic (dominant) g.93300381dup g.92834824dup 235_236 insT - RPL5_000030 - PubMed: Gazda 2008 - - Germline - - - - - DNA SEQ - - DBA Pat12 PubMed: Gazda 2008 2-generation family, 1 affected, carrier mother F - - - - - - - 2 Johan den Dunnen
+/. 4 c.235dup r.(?) p.(Tyr79LeufsTer34) Unknown - pathogenic (dominant) g.93300381dup g.92834824dup 235_236 insT - RPL5_000030 - PubMed: Gazda 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat12mother PubMed: Gazda 2008 mother F - - - - - - - 1 Johan den Dunnen
+/. 4 c.235dup r.(?) p.(Tyr79LeufsTer34) Maternal (confirmed) - pathogenic (dominant) g.93300381dup g.92834824dup 235_236 insT - RPL5_000030 - PubMed: Gazda 2008 - - Germline - - - - - DNA SEQ - - DBA Pat13 PubMed: Gazda 2008 2-generation family, 1 affected, carrier mother F - - - - - - - 2 Johan den Dunnen
+/. 4 c.235dup r.(?) p.(Tyr79LeufsTer34) Unknown - pathogenic (dominant) g.93300381dup g.92834824dup 235_236 insT - RPL5_000030 - PubMed: Gazda 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat13mother PubMed: Gazda 2008 mother F - - - - - - - 1 Johan den Dunnen
?/. - c.244G>A r.(?) p.(Glu82Lys) Unknown - VUS g.93300390G>A - RPL5(NM_000969.5):c.244G>A (p.(Glu82Lys)) - FAM69A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.258T>A r.(?) p.(Tyr86*) Unknown - pathogenic g.93300404T>A - RPL5(NM_000969.5):c.258T>A (p.Y86*) - FAM69A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.283del r.(?) p.(Tyr95MetfsTer31) Unknown - pathogenic (dominant) g.93300429del g.92834872del 283delT - RPL5_000058 - PubMed: Boria 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pl5_9 PubMed: Boria 2010 - M - - - - - - - 1 Johan den Dunnen
?/. - c.319C>T r.(?) p.(Arg107Cys) Unknown - VUS g.93300465C>T - RPL5(NM_000969.5):c.319C>T (p.(Arg107Cys)) - FAM69A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.324+1G>A r.spl p.? Parent #1 - pathogenic (dominant) g.93300471G>A g.92834914G>A - - RPL5_000031 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA265 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
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