Full data view for gene RPS19

Information The variants shown are described using the NM_001022.3 transcript reference sequence.

388 entries on 4 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     
+/. _1_6_ c.-372_*39{0} r.0 p.0? Unknown - pathogenic (dominant) g.(?_42363988)_(42375484_?)del g.(?_41859918)_(41871416_?)del del gene - RPS19_000091 - PubMed: Ramenghi 2000 - - Unknown - - - - - DNA SEQ - - DBA Pat13 PubMed: Ramenghi 2000 - M - - - - - - - 1 Johan den Dunnen
+/. _1_6_ c.-372_*39{0} r.0 p.0? Unknown - pathogenic (dominant) g.(?_42363988)_(42375484_?)del g.(?_41859918)_(41871416_?)del del gene - RPS19_000091 - PubMed: Willig 1999 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA I1 PubMed: Willig 1999 - M - - - - - - - 1 Johan den Dunnen
+/. _1_6_ c.-372_*39{0} r.0 p.0? Unknown - pathogenic (dominant) g.(?_42363988)_(42375484_?)del g.(?_41859918)_(41871416_?)del del gene - RPS19_000091 - PubMed: Willig 1999 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA S11 PubMed: Willig 1999 - M - - - - - - - 1 Johan den Dunnen
+/. 3 c112A>T r.(?) p.(Lys38Ter) Unknown - pathogenic (dominant) g.42365221A>T g.41861152A>T - - RPS19_000028 - PubMed: Boria 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Ps19_12 PubMed: Boria 2010 - M - - - - - - - 1 Johan den Dunnen
+/. _1_6_ c.-372_*39{0} r.0 p.0 Paternal (inferred) - pathogenic (dominant) g.(40700000_41800000)_(42640000_42910000)del - 46,XX,t(8;19)(q35;q13) - RPS19_000091 deletion incl. D19S197 and PG1 PubMed: Gustavsson 1998, PubMed: Willig 1999 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA PatMH;I24 PubMed: Gustavsson 1998, PubMed: Willig 1999 - F - - - - - - - 1 Johan den Dunnen
+/. _1_6_ c.-372_*39{0} r.0 p.0? Unknown - pathogenic (dominant) g.(41500000_41800000)_(44100000_45450000)del - deletion complete allele - RPS19_000091 deletion break points between CYP2B6/TGFB and XRCC1/D19S19 PubMed: Gustavsson 1997, PubMed: Gustavsson 1998 - - De novo - - - - - DNA SEQ - - DBA PatRG PubMed: Gustavsson 1997, PubMed: Gustavsson 1998 - - - - - - - - - 1 Johan den Dunnen
+/. _1_6_ c.-372_*39{0} r.0 p.0? Maternal (inferred) - pathogenic (dominant) g.(?_42363988)_(42375484_?)del g.(?_41859918)_(41871416_?)del deletion complete allele - RPS19_000091 deletion incl. D19S220/D19S200, D19S197, PG1, LIPE, D19S408/D19S178 PubMed: Gustavsson 1998 - - Unknown - - - - - DNA SEQ - - DBA PatHC PubMed: Gustavsson 1998 - - - - - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_42363988)_(42375482_?)del - - - RPS19_000005 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, PCRq, SEQ-NG - WES DBA 30503522-PatDBA049 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_42363988)_(42375482_?)del - - - RPS19_000005 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, PCRq, SEQ-NG - WES DBA 30503522-PatDBA054 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.0 r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_42363988)_(42375482_?)del - - - RPS19_000005 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, PCRq, SEQ-NG - WES DBA 30503522-PatDBA055 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.0 r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_42363988)_(42375482_?)del - - - RPS19_000005 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, PCRq, SEQ-NG - WES DBA 30503522-PatDBA090 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_42363988)_(42375482_?)del - - - RPS19_000005 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, PCRq, SEQ-NG - WES DBA 30503522-PatDBA104 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_42363988)_(42375482_?)del - - - RPS19_000005 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, PCRq, SEQ-NG - WES DBA 30503522-PatDBA117 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_42363988)_(42375482_?)del - - - RPS19_000005 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, PCRq, SEQ-NG - WES DBA 30503522-PatDBA135 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_42363988)_(42375482_?)del - - - RPS19_000005 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, PCRq, SEQ-NG - WES DBA 30503522-PatDBA161 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.0 r.0 p.0 Parent #1 - pathogenic (dominant) g.(?_42363988)_(42375482_?)del - - - RPS19_000005 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, PCRq, SEQ-NG - WES DBA 30503522-PatDBA321 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.? - - - NPHS1_000138 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ - - DBA 30503522-PatDBA355 PubMed: Ulirsch 2018 DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.? - - - NPHS1_000138 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ - - DBA 30503522-PatDBA356 PubMed: Ulirsch 2018 DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.? - - - NPHS1_000138 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ - - DBA 30503522-PatDBA357 PubMed: Ulirsch 2018 DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (dominant) g.? - t(1;19)(p32;q13) - NPHS1_000138 - PubMed: Campagnoli 2004 - - Unknown - - - - - DNA SEQ - - DBA patient PubMed: Campagnoli 2004 - - - Italy - - - - - 1 Johan den Dunnen
+/. 3_6_ c.? r.? p.? Unknown - pathogenic (dominant) g.? - LOH 3' to exon 3 - NPHS1_000138 - PubMed: Orfali 2004 - - De novo - - - - - DNA SEQ - - DBA FamE75 PubMed: Orfali 2004 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_4 c.? r.? p.? Unknown - pathogenic (dominant) g.? - LOH 5' to exon 4 - NPHS1_000138 - PubMed: Orfali 2004 - - De novo - - - - - DNA SEQ - - DBA FamE25 PubMed: Orfali 2004 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (dominant) g.? - t(X;19) - NPHS1_000138 - PubMed: Willig 1999 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA S10 PubMed: Willig 1999 - F - - - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (dominant) g.(39000000_44000000)_qterdelins[NC_000023.10:g.pter_(24900001_37600000)inv] - - 46,XX,t(X;19)(p21;q13) NPHS1_000138 - PubMed: Gustavsson 1997, PubMed: Gustavsson 1997 - - De novo - - - - - DNA FISH, microscope - - DBA patient PubMed: Gustavsson 1997 2-generation family, 1 affected, unaffected non-carrier parents F - Sweden - - - - - 1 Johan den Dunnen
+/. - c.1-2A>G r.spl p.? Parent #1 - pathogenic (dominant) g.42364843A>G g.41860773A>G - - RPS19_000007 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA165 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.1-2A>T r.spl p.? Parent #1 - pathogenic (dominant) g.42364843A>T g.41860773A>T - - RPS19_000006 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA128 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.1-2A>T r.spl p.? Parent #1 - pathogenic (dominant) g.42364843A>T g.41860773A>T - - RPS19_000006 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA129 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.1-2A>T r.spl p.? Parent #1 - pathogenic (dominant) g.42364843A>T g.41860773A>T - - RPS19_000006 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ - - DBA 30503522-PatDBA344 PubMed: Ulirsch 2018 DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.1-2A>T r.spl p.? Parent #1 - pathogenic (dominant) g.42364843A>T g.41860773A>T - - RPS19_000006 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ - - DBA 30503522-PatDBA345 PubMed: Ulirsch 2018 DBA case - - - - - - - - 1 Johan den Dunnen
+/. 1i c.1-2A>T r.spl p.0? Parent #1 - pathogenic (dominant) g.42364843A>T g.41860773A>T - - RPS19_000006 - PubMed: Boria 2010 - - Germline - - - - - DNA SEQ - - DBA Ps19_34 PubMed: Boria 2010 family, 2 affected brothers M - - - - - - - 2 Johan den Dunnen
+/. 1i c.1-2A>T r.spl p.0? Parent #1 - pathogenic (dominant) g.42364843A>T g.41860773A>T - - RPS19_000006 - PubMed: Boria 2010 - - Germline - - - - - DNA SEQ - - DBA Ps19_34brother PubMed: Boria 2010 brother M - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_1-2)_(71+2_?)del r.? p.0? Unknown - likely pathogenic g.(?_42364843)_(42364917_?)del - - - RPS19_000008 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel42 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_1-2)_(71+2_?)del r.? p.0? Unknown - likely pathogenic g.(?_42364843)_(42364917_?)del - - - RPS19_000008 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel43 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_1-2)_(71+2_?)del r.? p.0? Unknown - likely pathogenic g.(?_42364843)_(42364917_?)del - - - RPS19_000008 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel44 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_1-2)_(71+2_?)del r.? p.0? Unknown - likely pathogenic g.(?_42364843)_(42364917_?)del - - - RPS19_000008 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel45 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_1-2)_(71+2_?)del r.? p.0? Unknown - likely pathogenic g.(?_42364843)_(42364917_?)del - - - RPS19_000008 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel46 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_1-2)_(71+2_?)del r.? p.0? Unknown - likely pathogenic g.(?_42364843)_(42364917_?)del - - - RPS19_000008 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel47 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_1-2)_(71+2_?)del r.? p.0? Unknown - likely pathogenic g.(?_42364843)_(42364917_?)del - - - RPS19_000008 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel48 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.(?_1-2)_(71+2_?)del r.? p.0? Unknown - likely pathogenic g.(?_42364843)_(42364917_?)del - - - RPS19_000008 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ-NG - WES DBA 30503522-DBAputdel49 PubMed: Ulirsch 2018 - - - - - - - - - 1 Johan den Dunnen
+/. 1i c.1-1G>A r.(?) p.0? Unknown - pathogenic (dominant) g.42364844G>A g.41860774G>A - - RPS19_000093 - PubMed: Campagnoli 2004 - - Unknown - - - - - DNA SEQ - - DBA patient PubMed: Campagnoli 2004 - - - Italy - - - - - 1 Johan den Dunnen
+/. 1i c.1-1G>C r.spl p.0? Parent #1 - pathogenic (dominant) g.42364844G>C g.41860774G>C -1G>C - RPS19_000092 - PubMed: Boria 2010 - - Germline - - - - - DNA SEQ - - DBA Ps19_33 PubMed: Boria 2010 - M - - - - - - - 1 Johan den Dunnen
+/. 1i c.1-1G>T r.(?) p.0? Parent #1 - pathogenic (dominant) g.42364844G>T g.41860774G>T - - RPS19_000094 - PubMed: Draptchinskaia 1999, PubMed: Orfali 2004 - - Germline - - - - - DNA SEQ - - DBA F38;FamE3 PubMed: Draptchinskaia 1999, PubMed: Orfali 2004 family, child, father and grandfather - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 1i c.1-1G>T r.spl p.? Parent #1 - pathogenic (dominant) g.42364844G>T g.41860774G>T - - RPS19_000094 - PubMed: Willig 1999 - - Germline - - - - - DNA SEQ - - DBA E3 PubMed: Willig 1999 - M - - - - - - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.0? Parent #1 - pathogenic (dominant) g.42364845A>G g.41860775A>G - - RPS19_000009 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA152 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.0? Parent #1 - pathogenic (dominant) g.42364845A>G g.41860775A>G - - RPS19_000009 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA336 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 2 c.1A>G r.(?) p.(Met1?) Parent #1 - pathogenic (dominant) g.42364845A>G g.41860775A>G - - RPS19_000009 - PubMed: Draptchinskaia 1999 - - Germline - - - - - DNA SEQ - - DBA F18 PubMed: Draptchinskaia 1999 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.1A>G r.(?) p.(Met1?) Parent #1 - pathogenic (dominant) g.42364845A>G g.41860775A>G - - RPS19_000009 - PubMed: Willig 1999 - - Germline - - - - - DNA SEQ - - DBA F9 PubMed: Willig 1999 - M - - - - - - - 1 Johan den Dunnen
+/. 2 c.2T>A r.(?) p.(Met1?) Parent #1 - pathogenic (dominant) g.42364846T>A g.41860776T>A - - RPS19_000095 - PubMed: Boria 2010 - - Germline - - - - - DNA SEQ - - DBA Ps19_1 PubMed: Boria 2010 - F - - - - - - - 1 Johan den Dunnen
+/. - c.3G>A r.(?) p.0? Parent #1 - pathogenic (dominant) g.42364847G>A g.41860777G>A - - RPS19_000010 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA026 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.3G>A r.(?) p.0? Parent #1 - pathogenic (dominant) g.42364847G>A g.41860777G>A - - RPS19_000010 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA089 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.3G>A r.(?) p.0? Parent #1 - pathogenic (dominant) g.42364847G>A g.41860777G>A - - RPS19_000010 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA096 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.3G>A r.(?) p.0? Parent #1 - pathogenic (dominant) g.42364847G>A g.41860777G>A - - RPS19_000010 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA260 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.3G>A r.(?) p.0? Parent #1 - pathogenic (dominant) g.42364847G>A g.41860777G>A - - RPS19_000010 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA273 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.3G>A r.(?) p.0? Parent #1 - pathogenic (dominant) g.42364847G>A g.41860777G>A - - RPS19_000010 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA290 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.3G>A r.(?) p.(Met1?) Unknown - pathogenic g.42364847G>A g.41860777G>A - - RPS19_000010 - - - - De novo - - - - - DNA SEQ-NG - - DBA1 107 - - F - China - - - - - 1 Sha Hong
+/. 2 c.3G>A r.(?) p.(Met1?) Unknown - pathogenic (dominant) g.42364847G>A g.41860777G>A - - RPS19_000010 - PubMed: Campagnoli 2008 - - Unknown - - - - - DNA SEQ - - DBA - PubMed: Campagnoli 2008 - - - Italy - - - - - 1 Johan den Dunnen
+/. 2 c.3G>A r.(?) p.(Met1?) Unknown - pathogenic (dominant) g.42364847G>A g.41860777G>A - - RPS19_000010 - PubMed: Proust 2003 - - Unknown - - - - - DNA SEQ - - DBA FamK PubMed: Proust 2003 family, 1 affected M - France - - - - - 1 Johan den Dunnen
+/. 2 c.3G>A r.(?) p.(Met1?) Unknown - pathogenic (dominant) g.42364847G>A g.41860777G>A - - RPS19_000010 - PubMed: Konno 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat43 PubMed: Konno 2010 - F - Japan - - - - - 1 Johan den Dunnen
+/. 2 c.3G>C r.(?) p.(Met1?) Unknown - pathogenic (dominant) g.42364847G>C g.41860777G>C - - RPS19_000096 - PubMed: Ramenghi 2000 - - Unknown - - - - - DNA SEQ - - DBA Pat1 PubMed: Ramenghi 2000 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.3G>T r.(?) p.0? Parent #1 - pathogenic (dominant) g.42364847G>T g.41860777G>T - - RPS19_000011 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA059 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.3G>T r.(?) p.0? Parent #1 - pathogenic (dominant) g.42364847G>T g.41860777G>T - - RPS19_000011 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA071 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.3G>T r.(?) p.0? Parent #1 - pathogenic (dominant) g.42364847G>T g.41860777G>T - - RPS19_000011 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA097 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.3G>T r.(?) p.0? Parent #1 - pathogenic (dominant) g.42364847G>T g.41860777G>T - - RPS19_000011 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA162 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.3G>T r.(?) p.0? Parent #1 - pathogenic (dominant) g.42364847G>T g.41860777G>T - - RPS19_000011 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA215 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.3G>T r.(?) p.0? Parent #1 - pathogenic (dominant) g.42364847G>T g.41860777G>T - - RPS19_000011 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA233 PubMed: Ulirsch 2018 DBA case, uunaffected parents - - - - - - - - 1 Johan den Dunnen
+/. - c.3G>T r.(?) p.0? Parent #1 - pathogenic (dominant) g.42364847G>T g.41860777G>T - - RPS19_000011 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA249 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.3G>T r.(?) p.0? Parent #1 - pathogenic (dominant) g.42364847G>T g.41860777G>T - - RPS19_000011 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA250 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.3G>T r.(?) p.0? Parent #1 - pathogenic (dominant) g.42364847G>T g.41860777G>T - - RPS19_000011 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA251 PubMed: Ulirsch 2018 DBA case with affected relative - - - - - - - - 2 Johan den Dunnen
+/. - c.3G>T r.(?) p.0? Parent #1 - pathogenic (dominant) g.42364847G>T g.41860777G>T - - RPS19_000011 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ - - DBA 30503522-PatDBA343 PubMed: Ulirsch 2018 DBA case - - - - - - - - 1 Johan den Dunnen
+/. 2 c.3G>T r.(?) p.(Met1?) Unknown - pathogenic (dominant) g.42364847G>T g.41860777G>T - - RPS19_000011 - PubMed: Orfali 2004 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA FamE98 PubMed: Orfali 2004 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2 c.3G>T r.(?) p.(Met1?) Unknown - pathogenic (dominant) g.42364847G>T g.41860777G>T - - RPS19_000011 - PubMed: Ramenghi 2000 - - Unknown - - - - - DNA SEQ - - DBA Pat17 PubMed: Ramenghi 2000 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.3G>T r.(?) p.(Met1?) Unknown - likely pathogenic (recessive) g.42364847G>T g.41860777G>T - - RPS19_000011 - PubMed: Tsangaris 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - - - - 1 Johan den Dunnen
+/. - c.3G>T r.(?) p.(Met1?) Unknown - pathogenic g.42364847G>T - - - RPS19_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.10_13del r.(?) p.(Val4Leufs*2) Parent #1 - pathogenic (dominant) g.42364854_42364857del g.41860784_41860787del g.42364853_42364856del - RPS19_000012 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA058 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 2 c.10_13del r.(?) p.(Val4LeufsTer2) Unknown - pathogenic (dominant) g.42364854_42364857del g.41860784_41860787del 10_13delGTTA - RPS19_000012 - PubMed: Boria 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Ps19_2 PubMed: Boria 2010 - F - - - - - - - 1 Johan den Dunnen
+/. - c.13dup r.(?) p.(Thr5Asnfs*46) Parent #1 - pathogenic (dominant) g.42364857dup g.41860787dup g.42364856_42364857insA - RPS19_000013 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA271 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.13dup r.(?) p.(Thr5Asnfs*46) Parent #1 - pathogenic (dominant) g.42364857dup g.41860787dup g.42364856_42364857insA - RPS19_000013 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA285 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.13dup r.(?) p.(Thr5Asnfs*46) Parent #1 - pathogenic (dominant) g.42364857dup g.41860787dup g.42364856_42364857insA - RPS19_000013 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA338 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 2 c.14del r.(?) p.(Thr5MetfsTer2) Unknown - pathogenic (dominant) g.42364858del g.41860788del 14delC - RPS19_000097 - PubMed: Boria 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Ps19_3 PubMed: Boria 2010 - F - - - - - - - 1 Johan den Dunnen
+/. 2 c.14_15insA r.(?) p.(Val6CysfsTer45) Unknown - pathogenic (dominant) g.42364858_42364859insA g.41860788_41860789insA 13insA (Val6CysfsX45) - RPS19_000098 - PubMed: Draptchinskaia 1999 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA S14 PubMed: Draptchinskaia 1999 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.14_15insA r.(?) p.(Val6CysfsTer45) Unknown - pathogenic (dominant) g.42364858_42364859insA g.41860788_41860789insA - - RPS19_000098 - PubMed: Willig 1999 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA F31 PubMed: Willig 1999 - M - - - - - - - 1 Johan den Dunnen
+/. - c.15del r.(?) p.(Val6*) Parent #1 - pathogenic (dominant) g.42364859del g.41860789del - - RPS19_000014 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA268 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.20_32del r.(?) p.(Lys7Serfs*18) Parent #1 - pathogenic (dominant) g.42364864_42364876del g.41860794_41860806del g.42364863_42364875del - RPS19_000015 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA281 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 2 c.20_32del r.(?) p.(Lys7SerfsTer18) Unknown - pathogenic (dominant) g.42364864_42364876del g.41860794_41860806del 19del13 - RPS19_000015 - PubMed: Proust 2003 - - Unknown - - - - - DNA SEQ - - DBA FamB PubMed: Proust 2003 family, 1 affected - - France - - - - - 1 Johan den Dunnen
+/. - c.21del r.(?) p.(Asp8Thrfs*2) Parent #1 - pathogenic (dominant) g.42364865del g.41860795del g.42364862del - RPS19_000016 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA207 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 2 c.27_44del r.(?) p.(Asn10_Val15del) Unknown - pathogenic (dominant) g.42364871_42364888del g.41860801_41860818del 24del18 - RPS19_000099 - PubMed: Proust 2003 - - Unknown - - - - - DNA SEQ - - DBA FamG PubMed: Proust 2003 family, 1 affected - - France - - - - - 1 Johan den Dunnen
+/. 2 c.28_29insT r.(?) p.(Asn10IlefsTer41) Unknown - pathogenic (dominant) g.42364872_42364873insT g.41860802_41860803insT - - RPS19_000100 - PubMed: Boria 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Ps19_4 PubMed: Boria 2010 - M - - - - - - - 1 Johan den Dunnen
+/. - c.31C>T r.(?) p.(Gln11*) Parent #1 - pathogenic (dominant) g.42364875C>T g.41860805C>T - - RPS19_000017 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA011 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.31C>T r.(?) p.(Gln11*) Parent #1 - pathogenic (dominant) g.42364875C>T g.41860805C>T - - RPS19_000017 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA109 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.31C>T r.(?) p.(Gln11*) Parent #1 - pathogenic (dominant) g.42364875C>T g.41860805C>T - - RPS19_000017 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA184 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.31C>T r.(?) p.(Gln11*) Parent #1 - pathogenic (dominant) g.42364875C>T g.41860805C>T - - RPS19_000017 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA292 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 2 c.31C>T r.31c>u p.(Gln11Ter) Unknown - pathogenic (dominant) g.42364875C>T g.41860805C>T - - RPS19_000017 - PubMed: Gazda 2004 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat12 PubMed: Gazda 2004 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.31C>T r.(?) p.(Gln11Ter) Unknown - pathogenic (dominant) g.42364875C>T g.41860805C>T - - RPS19_000017 - PubMed: Gazda 2004 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA Pat13 PubMed: Gazda 2004 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.31C>T r.(?) p.(Gln11Ter) Unknown - pathogenic (dominant) g.42364875C>T g.41860805C>T - - RPS19_000017 - PubMed: Willig 1999 - - Unknown - - - - - DNA SEQ - - DBA I7 PubMed: Willig 1999 - M - - - - - - - 1 Johan den Dunnen
+/. 2 c.31C>T r.(?) p.(Gln11Ter) Unknown - pathogenic (dominant) g.42364875C>T g.41860805C>T - - RPS19_000017 - PubMed: Willig 1999, PubMed: Proust 2003 - - Unknown - - - - - DNA SEQ - - DBA FamI7;PatC PubMed: Willig 1999, PubMed: Proust 2003 - F - France - - - - - 1 Johan den Dunnen
+/. - c.34C>T r.(?) p.(Gln12*) Parent #1 - pathogenic (dominant) g.42364878C>T g.41860808C>T - - RPS19_000018 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA007 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. - c.34C>T r.(?) p.(Gln12*) Parent #1 - pathogenic (dominant) g.42364878C>T g.41860808C>T - - RPS19_000018 - PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA280 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
+/. 2 c.34C>T r.(?) p.(Gln12Ter) Parent #1 - pathogenic (dominant) g.42364878C>T g.41860808C>T 34C>T - RPS19_000018 - PubMed: Orfali 2004 - - Germline - - - - - DNA SEQ - - DBA FamE49 PubMed: Orfali 2004 family, child and father - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2 c.34C>T r.(?) p.(Gln12Ter) Unknown - pathogenic (dominant) g.42364878C>T g.41860808C>T - - RPS19_000018 - PubMed: Willig 1999 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA F23 PubMed: Willig 1999 - F - - - - - - - 1 Johan den Dunnen
+/. 2 c.34C>T r.(?) p.(Gln12Ter) Unknown - pathogenic (dominant) g.42364878C>T g.41860808C>T - - RPS19_000018 - PubMed: Willig 1999 - - Germline/De novo (untested) - - - - - DNA SEQ - - DBA F16 PubMed: Willig 1999 - M - - - - - - - 1 Johan den Dunnen
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