Full data view for gene UBR1

Information The variants shown are described using the NM_174916.2 transcript reference sequence.

153 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.47C>T r.(?) p.(Ala16Val) Unknown - benign g.43398174G>A g.43105976G>A UBR1(NM_174916.2):c.47C>T (p.A16V) - UBR1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1i c.81+1G>A r.spl? p.? Paternal (confirmed) - likely pathogenic g.43398139C>T g.43105941C>T - - UBR1_000071 - PubMed: Corona-Rivera et al. 2016 - - Germline yes - - - - DNA SEQ - - JBS - PubMed: Corona-Rivera 2016 #1 - M no Mexico - 00y02m - - - 1 Maja Sukalo
+?/+? 1i c.81+2dup r.spl? p.? Unknown - likely pathogenic g.43398138dup g.43105940dup - - UBR1_000043 not in 200 control chromosomes tested PubMed: Sukalo et al. 2014 - - Unknown ? 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #34.1 - M no Germany white >07y08m - - - 1 Maja Sukalo
+?/+? 1i c.81+5G>C r.spl? p.? Paternal (confirmed) - likely pathogenic g.43398135C>G g.43105937C>G IVS1+5G>C - UBR1_000030 not in 200 control chromosomes tested, HGMD CS087516 PubMed: Alkhouri et al. 2008 - - Germline ? 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Alkhouri 2008; PubMed: Sukalo 2014 #23.1 - F no - white >12y03m - - - 1 Maja Sukalo
+/. - c.94C>T r.(?) p.(Gln32Ter) Unknown - pathogenic g.43378426G>A g.43086228G>A UBR1(NM_174916.3):c.94C>T (p.Q32*) - UBR1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.199C>T r.(?) p.(Gln67*) Unknown - pathogenic g.43378321G>A - - - UBR1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.264G>A r.(?) p.(Glu88=) Unknown - likely benign g.43378256C>T - UBR1(NM_174916.3):c.264G>A (p.(Glu88=), p.E88=) - UBR1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.264G>A r.(?) p.(Glu88=) Unknown - likely benign g.43378256C>T - UBR1(NM_174916.3):c.264G>A (p.(Glu88=), p.E88=) - UBR1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.364G>C r.(?) p.(Val122Leu) Paternal (confirmed) - likely pathogenic g.43374889C>G g.43082691C>G - - UBR1_000023 not in 200 control chromosomes tested, heterozygous in healthy sister PubMed: Hwang et al. 2011 - - Germline yes 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Hwang 2011 #1; PubMed: Sukalo 2014 #18.1 - F no Spain - >20y - - - 1 Maja Sukalo
+?/+? 3 c.380G>T r.(?) p.(Cys127Phe) Both (homozygous) - likely pathogenic g.43374873C>A g.43082675C>A - - UBR1_000053 not in 200 control chromosomes tested PubMed: Sukalo et al. 2014 - - Unknown ? 2/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #41.1 - F yes Mexico - >02y03m - - - 1 Maja Sukalo
+?/+? 3 c.407A>G r.(?) p.(His136Arg) Unknown - likely pathogenic g.43374846T>C g.43082648T>C - - UBR1_000005 not in 200 control chromosomes tested, HGMD CM054873 PubMed: Zenker et al. 2005 #JBS05 and PubMed: Hwang et al. 2011 - rs119477054 Unknown ? 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Zenker 2005 #JBS05; PubMed: Hwang 2011 #2; PubMed: Sukalo 2014 #6.1 - F no Netherlands - >13y06m - - - 1 Maja Sukalo
+?/. - c.407A>G r.(?) p.(His136Arg) Unknown - likely pathogenic g.43374846T>C - - - UBR1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 4 c.477del r.(?) p.(Gly160Alafs*5) Both (homozygous) - likely pathogenic g.43367228del g.43075030del - - UBR1_000012 not in 200 control chromosomes tested PubMed: Zenker et al. 2005 #JBS10 - - Unknown ? 2/100 alleles - - - DNA SEQ - - JBS - PubMed: Jones 1994 #1; PubMed: Timoney 2004 #2; PubMed: Zenker 2005 #JBS10; PubMed: Cheung 2009 #1; PubMed: Sukalo 2014 #10.1 Further publication: PubMed: Corona-Rivera et al. 2016 #7 F no Portugal - >12y - - - 1 Maja Sukalo
+?/+? 4 c.497A>G r.(?) p.(His166Arg) Maternal (confirmed) - likely pathogenic g.43367208T>C g.43075010T>C - - UBR1_000039 not in 200 control chromosomes tested PubMed: Sukalo et al. 2014 - - Germline ? 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #31.1 - F no Brazil white >15y - - - 1 Maja Sukalo
+?/+? 4 c.497A>G r.(?) p.(His166Arg) Both (homozygous) - likely pathogenic g.43367208T>C g.43075010T>C - - UBR1_000039 - PubMed: Sukalo et al. 2014 - - Unknown ? - - - - DNA SEQ - - JBS - - - M yes Turkey - >02y00m - - - 1 Maja Sukalo
+?/+? 4i c.529-13G>A r.(=) p.(=) Both (homozygous) - likely pathogenic g.43363136C>T g.43070938C>T - - UBR1_000026 not in 200 control chromosomes tested; Splice site affected; demonstrated on RNA level; probable effect on protein: p.(Asn177Leufs*10) PubMed: Godbole et al. 2013 - - Unknown ? 4/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #20.1 - F ? Guatemala - >00y05m - - - 1 Maja Sukalo
+?/+? 4i c.529-13G>A r.(=) p.(=) Both (homozygous) - likely pathogenic g.43363136C>T g.43070938C>T - - UBR1_000026 not in 200 control chromosomes tested; Splice site affected; demonstrated on RNA level; probable effect on protein: p.(Asn177Leufs*10) PubMed: Godbole et al. 2013 - - Unknown ? 4/100 alleles - - - DNA SEQ - - JBS - PubMed: Godbole 2013; PubMed: Sukalo 2014 #48.1 - F yes India - >00y10m - - - 1 Maja Sukalo
+?/+ 4i c.529-13G>A r.(=) p.(=) Both (homozygous) - likely pathogenic g.43363136C>T g.43070938C>T - - UBR1_000026 - PubMed: Godbole et al. 2013 - - Germline yes - - - - DNA SEQ - - JBS - - - M yes Turkey - >01y05m - - - 1 Maja Sukalo
?/. - c.566A>G r.(?) p.(Gln189Arg) Unknown - VUS g.43363086T>C - UBR1(NM_174916.3):c.566A>G (p.(Gln189Arg)) - UBR1_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 5 c.650T>G r.(?) p.(Leu217Arg) Unknown - likely pathogenic g.43363002A>C g.43070804A>C - - UBR1_000051 not in 200 control chromosomes tested PubMed: Sukalo et al. 2014 - - Unknown ? 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #40.1 - M no United States - >22y - - - 1 Maja Sukalo
-?/. - c.654G>T r.(?) p.(Gln218His) Unknown - likely benign g.43362998C>A - UBR1(NM_174916.2):c.654G>T (p.(Gln218His)) - UBR1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.660-3C>T r.spl? p.? Unknown - likely benign g.43360237G>A - UBR1(NM_174916.2):c.660-3C>T - UBR1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 5i c.660-2_660-1del r.spl? p.? Unknown - likely pathogenic g.43360235_43360236del g.43068037_43068038del IVS5-2delAG - UBR1_000008 not in 200 control chromosomes tested PubMed: Zenker et al. 2005 #JBS07 - - Unknown ? 2/100 alleles - - - DNA SEQ - - JBS - PubMed: Zerres and Holtgrave 1986; PubMed: Zenker 2005 #JBS07; PubMed: Sukalo 2014 #8.1 - F no Germany - >11y - - - 1 Maja Sukalo
+?/+? 5i c.660-2_660-1del r.spl? p.? Unknown - likely pathogenic g.43360235_43360236del g.43068037_43068038del IVS5-2delAG - UBR1_000008 not in 200 control chromosomes tested PubMed: Zenker et al. 2005 - - Unknown ? 2/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #42.1 - F no Mexico - >13y07m - - - 1 Maja Sukalo
+/. - c.660-2_660-1del r.spl? p.? Unknown - pathogenic g.43360235_43360236del g.43068037_43068038del UBR1(NM_174916.3):c.660-2_660-1delAG - UBR1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.752G>T r.(?) p.(Cys251Phe) Unknown - VUS g.43360142C>A - UBR1(NM_174916.3):c.752G>T (p.(Cys251Phe)) - UBR1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 6 c.753_754del r.(?) p.(Cys251*) Both (homozygous) - likely pathogenic g.43360142_43360143del g.43067944_43067945del 753-754delTG - UBR1_000013 not in 200 control chromosomes tested PubMed: Zenker et al. 2005 #JBS11 - - Unknown ? 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Jones 1994 #2; PubMed: Timoney 2004 #1; PubMed: Zenker 2005 #JBS11; PubMed: Cheung 2009 #2; PubMed: Sukalo 2014 #11.1 - M yes India - >13y - - - 1 Maja Sukalo
-?/. - c.760G>A r.(?) p.(Ala254Thr) Unknown - likely benign g.43360134C>T - UBR1(NM_174916.2):c.760G>A (p.(Ala254Thr)) - UBR1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 7 c.857T>G r.(?) p.(Ile286Arg) Paternal (confirmed) - likely pathogenic g.43352254A>C g.43060056A>C - - UBR1_000021 not in 200 control chromosomes tested PubMed: Sukalo et al. 2014 - - De novo ? 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #17.1 - M no Germany white >19y - - - 1 Maja Sukalo
-/. - c.862-18C>T r.(=) p.(=) Unknown - benign g.43352041G>A g.43059843G>A UBR1(NM_174916.3):c.862-18C>T - UBR1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 8 c.950T>C r.(?) p.(Leu317Pro) Maternal (confirmed) - likely pathogenic g.43351935A>G g.43059737A>G - - UBR1_000041 not in 200 control chromosomes tested PubMed: Liu et al. 2011 - - Germline yes 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Liu 2011; PubMed: Sukalo 2014 #33.1 - F no Mongolia - >01y09m - - - 1 Maja Sukalo
+?/+? 9i c.1094-13A>G r.(=) p.(=) Both (homozygous) - likely pathogenic g.43350640T>C g.43058442T>C - - UBR1_000016 not in 200 control chromosomes tested; Splice site affected; demonstrated on RNA level; probable effect on protein: p.(Val365Glufs*2) PubMed: Sukalo et al. 2014 - - Unknown ? 2/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #14.1 - M yes Afghanistan - >03y - - - 1 Maja Sukalo
+?/+? 9i c.1094-12A>G r.(=) p.(=) Both (homozygous) - likely pathogenic g.43350639T>C g.43058441T>C IVS9-12A>G - UBR1_000015 not in 200 control chromosomes tested; creation of ectopic splice acceptor site (not tested on RNA level), HGMD ID CS054935 PubMed: Zenker et al. 2005 #JBS12 - - Unknown ? 2/100 alleles - - - DNA SEQ - - JBS - PubMed: Vieira 2002; PubMed: Zenker 2005 #JBS12; PubMed: Sukalo 2014 #13.1 - F yes - African >01y01m - - - 1 Maja Sukalo
+?/+? 10 c.1166_1177del r.(?) p.(Ala389_Phe392del) Paternal (inferred) - likely pathogenic g.43350548_43350559del g.43058350_43058361del - - UBR1_000047 not in 200 control chromosomes tested PubMed: Sukalo et al. 2014 - - Unknown yes 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #37.1; PubMed: Corona-Rivera 2016 #4 - M no Russian Federation - >17y - - - 1 Maja Sukalo
?/. - c.1213A>G r.(?) p.(Ser405Gly) Unknown - VUS g.43348610T>C g.43056412T>C UBR1(NM_174916.2):c.1213A>G (p.(Ser405Gly)) - UBR1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 11 c.1258C>A r.(?) p.(Gln420Lys) Both (homozygous) - likely pathogenic g.43348565G>T g.43056367G>T - - UBR1_000064 - - - - Unknown ? - c.1258C>A - - DNA SEQ - - JBS - - no clinical data available M yes - - >04y04m - - - 1 Maja Sukalo
+?/+? 11 c.1280T>G r.(?) p.(Leu427Arg) Paternal (confirmed) - likely pathogenic g.43348543A>C g.43056345A>C - - UBR1_000067 - PubMed: Atik et al. 2015 - - Germline yes - - - - DNA SEQ - - JBS - PubMed: Atik 2015 - F no Turkey - >03y - - - 1 Maja Sukalo
+?/+? 11i_12i c.(1281+1_1282-1)_(1439+1_1440-1)del r.? p.? Both (homozygous) - likely pathogenic g.(43340690_43346939)_(43347098_43348541)del - - - UBR1_000062 deletion exon 12 - - - Unknown ? - c.(1281+1_1282-1)_(1439+1_1440-1)del - - DNA MLPA - - JBS - - - F yes Iran - >00y03m - - - 1 Maja Sukalo
+?/+? 12i c.1440-1G>A r.spl? p.? Both (homozygous) - likely pathogenic g.43340690C>T g.43048492C>T IVS12-1G>A - UBR1_000046 not in 200 control chromosomes tested, HGMD CS083276 PubMed: Al-Dosari et al. 2008 - - Unknown ? 2/100 alleles - - - DNA SEQ - - JBS - PubMed: Al-Dosari 2008; PubMed: Sukalo 2014 #36.1 - M yes Saudi Arabia - >00y03m - - - 1 Maja Sukalo
+?/+? 13 c.1507C>T r.(?) p.(Arg503*) Maternal (confirmed) - likely pathogenic g.43340622G>A g.43048424G>A - - UBR1_000017 not in 200 control chromosomes tested PubMed: Hwang et al. 2011 - - Germline ? 3/100 alleles - - - DNA SEQ - - JBS - PubMed: Hwang 2011 #3; PubMed: Sukalo 2014 #15.1 - F no Portugal - >15y03m - - - 1 Maja Sukalo
+?/+? 13 c.1507C>T r.(?) p.(Arg503*) Both (homozygous) - likely pathogenic g.43340622G>A g.43048424G>A - - UBR1_000017 not in 200 control chromosomes tested PubMed: Hwang et al. 2011 - - Unknown ? 3/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #32.1 - F ? - - >23y - - - 1 Maja Sukalo
+?/+? 13 c.1507C>T r.(?) p.(Arg503*) Both (homozygous) - likely pathogenic g.43340622G>A g.43048424G>A - - UBR1_000017 not in 200 control chromosomes tested PubMed: Hwang et al. 2011 - - Unknown ? 3/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #32.2 - M ? - - >20y - - - 1 Maja Sukalo
+?/+? 13 c.1507C>T r.(?) p.(Arg503*) Both (homozygous) - likely pathogenic g.43340622G>A g.43048424G>A - - UBR1_000017 not in 200 control chromosomes tested PubMed: Hwang et al. 2011 - - Unknown ? 3/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #32.3 - F ? - - >17y - - - 1 Maja Sukalo
+/. - c.1507C>T r.(?) p.(Arg503*) Unknown - pathogenic g.43340622G>A - UBR1(NM_174916.3):c.1507C>T (p.R503*) - UBR1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 13 c.1537C>T r.(?) p.(Gln513*) Both (homozygous) - likely pathogenic g.43340592G>A g.43048394G>A - - UBR1_000001 not in 200 control chromosomes tested PubMed: Zenker et al. 2005 #JBS04 - rs119477055 Unknown ? 6/100 alleles - - - DNA SEQ - - JBS - PubMed: Zenker 2005 #JBS04; PubMed: Sukalo 2014 #1.1; PubMed: Corona-Rivera 2016 #3 - M no Costa Rica Indian >11y09m - - - 1 Maja Sukalo
+?/+? 13 c.1537C>T r.(?) p.(Gln513*) Both (homozygous) - likely pathogenic g.43340592G>A g.43048394G>A - - UBR1_000001 not in 200 control chromosomes tested PubMed: Zenker et al. 2005 #JBS03 - rs119477055 Unknown yes 6/100 alleles - - - DNA SEQ - - JBS - PubMed: Guzman and Carranza 1997 #2; PubMed: Zenker 2005 #JBS03; PubMed: Sukalo 2014 #2.1; PubMed: Corona-Rivera 2016 #5 - F no Costa Rica Indian >08y - - - 1 Maja Sukalo
+?/+? 13 c.1537C>T r.(?) p.(Gln513*) Both (homozygous) - likely pathogenic g.43340592G>A g.43048394G>A - - UBR1_000001 not in 200 control chromosomes tested PubMed: Zenker et al. 2005 #JBS03 - rs119477055 Unknown yes 6/100 alleles - - - DNA SEQ - - JBS - PubMed: Guzman and Carranza 1997 #1; PubMed: Zenker 2005 #JBS03; PubMed: Sukalo 2014 #2.2; PubMed: Corona-Rivera 2016 #6 - M no Costa Rica Indian 00y09m - - - 1 Maja Sukalo
+?/+? 13 c.1537C>T r.(?) p.(Gln513*) Both (homozygous) - likely pathogenic g.43340592G>A g.43048394G>A - - UBR1_000001 not in 200 control chromosomes tested PubMed: Zenker et al. 2005 - - Germline yes 6/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #44.1; PubMed: Corona-Rivera 2016 #2 - F yes Costa Rica - 00y04m - - - 1 Maja Sukalo
+?/+? 13 c.1537C>T r.(?) p.(Gln513*) Both (homozygous) - likely pathogenic g.43340592G>A g.43048394G>A - - UBR1_000001 - PubMed: Sukalo et al. 2014 - rs119477055 Unknown ? - - - - DNA SEQ - - JBS - - - F ? Costa Rica - >00y05m - - - 1 Maja Sukalo
+?/+? 14 c.1648C>T r.(?) p.(Gln550*) Both (homozygous) - likely pathogenic g.43339379G>A g.43047181G>A - - UBR1_000002 not in 200 control chromosomes tested, HGMD CM054874 PubMed: Zenker et al. 2005 #JBS01 - - Unknown ? 2/100 alleles - - - DNA SEQ - - JBS - PubMed: Zenker 2005 #JBS01; PubMed: Sukalo 2014 #3.1 - F yes Turkey - >10y - - - 1 Maja Sukalo
+?/+? 15 c.1688C>A r.(?) p.(Ala563Asp) Both (homozygous) - likely pathogenic g.43335574G>T g.43043376G>T - - UBR1_000029 not in 200 control chromosomes tested PubMed: Sukalo et al. 2014 - - Unknown ? 3/100 alleles - - - DNA SEQ - - JBS - PubMed: Reichart 1979 #1; PubMed: Sukalo 2014 #22.1 - F no Germany - >12y - - - 1 Maja Sukalo
+?/+? 15 c.1688C>A r.(?) p.(Ala563Asp) Both (homozygous) - likely pathogenic g.43335574G>T g.43043376G>T - - UBR1_000029 not in 200 control chromosomes tested PubMed: Sukalo et al. 2014 - - Unknown ? 3/100 alleles - - - DNA SEQ - - JBS - PubMed: Reichart 1979 #2; PubMed: Sukalo 2014 #22.2 - F no Germany - >07y - - - 1 Maja Sukalo
+?/+? 15 c.1688C>A r.(?) p.(Ala563Asp) Unknown - likely pathogenic g.43335574G>T g.43043376G>T - - UBR1_000029 not in 200 control chromosomes tested PubMed: Sukalo et al. 2014 - - Unknown ? 3/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #24.1 So far, only heterozygous UBR1 mutation detected (Sanger sequencing and MLPA) F no - white >37y - - - 1 Maja Sukalo
+?/+? 15 c.1759C>T r.(?) p.(Gln587*) Both (homozygous) - likely pathogenic g.43335503G>A g.43043305G>A - - UBR1_000003 not in 200 control chromosomes tested, HGMD CM054872 PubMed: Zenker et al. 2005 #JBS02 and PubMed: Schoner et al. 2011 - - Unknown ? 2/100 alleles - - - DNA SEQ - - JBS - PubMed: Zenker 2005 #JBS02; PubMed: Schoner 2011 #1; PubMed: Sukalo 2014 #4.1 - M yes Turkey - >07y - - - 1 Maja Sukalo
+?/+? 15 c.1759C>T r.(?) p.(Gln587*) Both (homozygous) - likely pathogenic g.43335503G>A g.43043305G>A - - UBR1_000003 not in 200 control chromosomes tested, HGMD CM054872 PubMed: Zenker et al. 2005 #JBS02 and PubMed: Schoner et al. 2011 - - Unknown ? 2/100 alleles - - - DNA SEQ - - JBS - PubMed: Zenker 2005 #JBS02; PubMed: Schoner 2011 #2; PubMed: Sukalo 2014 #4.2 - M yes Turkey - 00y00m - - - 1 Maja Sukalo
?/. - c.1787A>T r.(?) p.(Lys596Met) Unknown - VUS g.43335475T>A - UBR1(NM_174916.3):c.1787A>T (p.(Lys596Met)) - UBR1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 16 c.1886C>G r.(?) p.(Ser629*) Paternal (inferred) - likely pathogenic g.43330394G>C g.43038196G>C - - UBR1_000035 not in 200 control chromosomes tested PubMed: Sukalo et al. 2014 - - Unknown ? 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #28.1 - F no Australia white >18y - - - 1 Maja Sukalo
+?/+? 16i c.1911+14C>G r.(=) p.(=) Unknown - likely pathogenic g.43330355G>C g.43038157G>C - - UBR1_000010 not in 200 control chromosomes tested; Splice site affected; demonstrated on RNA level; probable effect on protein: p.(Glu638Valfs*29) PubMed: Sukalo et al. 2014 - - Unknown ? 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Rudnik-Schöneborn 1991 #3; PubMed: Swanenburg de Veye 1991; PubMed: Zenker 2005 #JBS08; PubMed: Sukalo 2014 #9.1 - M no Netherlands white >25y - - - 1 Maja Sukalo
+?/+? 17 c.1979_1981del r.(?) p.(Val660del) Maternal (confirmed) - likely pathogenic g.43330016_43330018del g.43037818_43037820del c.1979-1981_delTTG - UBR1_000031 not in 200 control chromosomes tested PubMed: Alkhouri et al. 2008 - - Germline ? 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Alkhouri 2008; PubMed: Sukalo 2014 #23.1 - F no - white >12y03m - - - 1 Maja Sukalo
+?/+? 17 c.1993C>T r.(?) p.(Arg665*) Maternal (confirmed) - likely pathogenic g.43330000G>A g.43037802G>A - - UBR1_000022 not in 200 control chromosomes tested PubMed: Sukalo et al. 2014 - - Germline ? 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #17.1 - M no Germany white >19y - - - 1 Maja Sukalo
+?/+? 18 c.2034C>A r.(?) p.(Tyr678*) Unknown - likely pathogenic g.43328780G>T g.43036582G>T - - UBR1_000040 not in 200 control chromosomes tested PubMed: Sukalo et al. 2014 - - De novo ? 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #31.1 - F no Brazil white >15y - - - 1 Maja Sukalo
+?/+? 19 c.2098T>C r.(?) p.(Ser700Pro) Both (homozygous) - likely pathogenic g.43328468A>G g.43036270A>G - - UBR1_000050 not in 200 control chromosomes tested PubMed: Almashraki et al. 2011 - - Germline yes 2/100 alleles - - - DNA SEQ - - JBS - PubMed: Almashraki 2011; PubMed: Sukalo 2014 #39.1 - M yes Yemen - >03y - - - 1 Maja Sukalo
+?/+? 19 c.2098T>C r.(?) p.(Ser700Pro) Both (homozygous) - likely pathogenic g.43328468A>G g.43036270A>G - - UBR1_000050 not in 200 control chromosomes tested PubMed: Almashraki et al. 2011 - - Germline yes - - - - DNA SEQ - - JBS - - - F yes Yemen - >00y02m - - - 1 Maja Sukalo
+?/+? 20i c.2254+2T>C r.spl? p.? Unknown - likely pathogenic g.43324764A>G g.43032566A>G IVS20+2T>C - UBR1_000006 not in 200 control chromosomes tested, HGMD CS054933 PubMed: Zenker et al. 2005 #JBS05 and PubMed: Hwang et al. 2011 - - Unknown ? 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Zenker 2005 #JBS05; PubMed: Hwang 2011 #2; PubMed: Sukalo 2014 #6.1 - F no Netherlands - >13y06m - - - 1 Maja Sukalo
+?/. - c.2254+2T>C r.spl? p.? Unknown - likely pathogenic g.43324764A>G - - - UBR1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 21 c.2260C>T r.(?) p.(Arg754Cys) Maternal (confirmed) - likely pathogenic g.43322261G>A g.43030063G>A - - UBR1_000048 not in 200 control chromosomes tested PubMed: Sukalo et al. 2014 - - Germline yes 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #37.1; PubMed: Corona-Rivera 2016 #4 - M no Russian Federation - >17y - - - 1 Maja Sukalo
+?/+? 21 c.2261G>A r.(?) p.(Arg754His) Both (homozygous) - likely pathogenic g.43322260C>T g.43030062C>T - - UBR1_000057 not in 200 control chromosomes tested PubMed: Sukalo et al. 2014 - - Germline yes 2/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #46.1 - F yes India - 00y04m - - - 1 Maja Sukalo
+?/+? 21 c.2295_2297del r.(?) p.(Glu766del) Maternal (inferred) - likely pathogenic g.43322228_43322230del g.43030030_43030032del - - UBR1_000027 not in 200 control chromosomes tested PubMed: Sukalo et al. 2014 - - Unknown ? 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #21.1 - M no - Cherokee >12y01m - - - 1 Maja Sukalo
+?/+? 21 c.2311_2312del r.(?) p.(Glu771Asnfs*8) Both (homozygous) - likely pathogenic g.43322213_43322214del g.43030015_43030016del - - UBR1_000070 - - - - Germline - - - - - DNA SEQ - - JBS - - - F yes - - >00y01m - - - 1 Maja Sukalo
+?/+? 21 c.2319dup r.(?) p.(His774Serfs*6) Maternal (confirmed) - likely pathogenic g.43322203dup g.43030005dup - - UBR1_000024 not in 200 control chromosomes tested PubMed: Hwang et al. 2011 - - Germline yes 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Hwang 2011 #1; PubMed: Sukalo 2014 #18.1 - F no Spain - >20y - - - 1 Maja Sukalo
+?/+? 21i c.2379+1G>C r.spl? p.? Both (homozygous) - likely pathogenic g.43322141C>G g.43029943C>G IVS21-1G>C - UBR1_000004 not in 200 control chromosomes tested, HGMD CS054934 PubMed: Zenker et al. 2005 #JBS06 - - Unknown yes 2/100 alleles - - - DNA SEQ - - JBS - PubMed: Rudnik-Schöneborn 1991 #2; PubMed: Zenker 2005 #JBS06; PubMed: Sukalo 2014 #5.1 - M yes Lebanon - >14y10m - - - 1 Maja Sukalo
+?/+? 21i c.2379+1G>C r.spl? p.? Both (homozygous) - likely pathogenic g.43322141C>G g.43029943C>G IVS21-1G>C - UBR1_000004 not in 200 control chromosomes tested, HGMD CS054934 PubMed: Zenker et al. 2005 #JBS06 - - Unknown yes 2/100 alleles - - - DNA SEQ - - JBS - PubMed: Rudnik-Schöneborn 1991 #1; PubMed: Zenker 2005 #JBS06; PubMed: Sukalo 2014 #5.2 - M yes Lebanon - 00y01m - - - 1 Maja Sukalo
+?/+? 21i c.2379+1G>C r.spl? p.? Both (homozygous) - likely pathogenic g.43322141C>G g.43029943C>G IVS21-1G>C - UBR1_000004 not in 200 control chromosomes tested, HGMD CS054934 PubMed: Zenker et al. 2005 - - Unknown yes 2/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #5.3 - F yes (Germany) - >00y04m - - - 1 Maja Sukalo
+?/+? 21i c.2380-1G>A r.spl? p.? Both (homozygous) - likely pathogenic g.43320027C>T g.43027829C>T - - UBR1_000056 not in 200 control chromosomes tested PubMed: Sukalo et al. 2014 - - Germline yes 2/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #45.1 - M yes Turkey - >01y03m - - - 1 Maja Sukalo
+?/+? 22i c.2432+5G>C r.spl? p.? Maternal (confirmed) - likely pathogenic g.43319969C>G g.43027771C>G - - UBR1_000068 - PubMed: Atik et al. 2015 - - Germline yes - - - - DNA SEQ - - JBS - PubMed: Atik 2015 - F no Turkey - >03y - - - 1 Maja Sukalo
?/. - c.2433-4T>G r.spl? p.? Unknown - VUS g.43318865A>C g.43026667A>C UBR1(NM_174916.2):c.2433-4T>G (p.?) - UBR1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 24 c.2546_2547insA r.(?) p.(Met849Ilefs*13) Unknown - likely pathogenic g.43317616_43317617insT g.43025418_43025419insT 2547insA - UBR1_000011 not in 200 control chromosomes tested PubMed: Zenker et al. 2005 #JBS08 - - Unknown ? 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Rudnik-Schöneborn 1991 #3; PubMed: Swanenburg de Veye 1991; PubMed: Zenker 2005 #JBS08; PubMed: Sukalo 2014 #9.1 - M no Netherlands white >25y - - - 1 Maja Sukalo
-?/. - c.2595A>G r.(?) p.(Pro865=) Unknown - likely benign g.43317171T>C g.43024973T>C UBR1(NM_174916.2):c.2595A>G (p.P865=) - UBR1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 25 c.2598del r.(?) p.(Pro867Hisfs*12) Both (homozygous) - likely pathogenic g.43317168del g.43024970del - - UBR1_000014 not in 200 control chromosomes tested PubMed: Zenker et al. 2005 #JBS13 - - Unknown ? 2/100 alleles - - - DNA SEQ - - JBS - PubMed: Zenker 2005 #JBS13; PubMed: Sukalo 2014 #12.1 - M yes Israel - >04y06m - - - 1 Maja Sukalo
+?/+? 25 c.2608G>T r.(?) p.(Glu870*) Unknown - likely pathogenic g.43317158C>A g.43024960C>A - - UBR1_000054 not in 200 control chromosomes tested PubMed: Sukalo et al. 2014 - - Unknown ? 1/100 alleles - - - DNA SEQ - - JBS - PubMed: Sukalo 2014 #42.1 - F no Mexico - >13y07m - - - 1 Maja Sukalo
-/. - c.2695A>G r.(?) p.(Ile899Val) Parent #1 - benign g.43317071T>C g.43024873T>C - - UBR1_000108 103 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35069201 Germline - 103/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 103 Mohammed Faruq
-/. - c.2695A>G r.(?) p.(Ile899Val) Both (homozygous) - benign g.43317071T>C g.43024873T>C - - UBR1_000108 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35069201 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.2695A>G r.(?) p.(Ile899Val) Unknown - likely benign g.43317071T>C - UBR1(NM_174916.3):c.2695A>G (p.(Ile899Val)) - UBR1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2707T>G r.(?) p.(Ser903Ala) Unknown - likely benign g.43317059A>C g.43024861A>C UBR1(NM_174916.2):c.2707T>G (p.(Ser903Ala)) - UBR1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2710A>G r.(?) p.(Asn904Asp) Unknown - likely benign g.43317056T>C g.43024858T>C UBR1(NM_174916.2):c.2710A>G (p.(Asn904Asp)) - UBR1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 25i_29i c.(2739+1_2740-1)_(3209+1_3210-1)del r.? p.? Paternal (confirmed) - likely pathogenic g.(43299483_43307885)_(43315000_43317026)del - - - UBR1_000065 deletion exons 26, 27, 28, 29 - - - Germline yes - c.(2739+1_2740+1)_(3209+1_3210-1)del - - DNA MLPA - - JBS - - - M no - white >00y08m - - - 1 Maja Sukalo
+?/+? 26i c.2839+5G>A r.spl? p.? Both (homozygous) - likely pathogenic g.43314895C>T g.43022697C>T IVS26+5G>A - UBR1_000025 not in 200 control chromosomes tested; Splice site affected; demonstrated on RNA level; probable effect on protein: p.(Arg947Aspfs*7); HGMD CS086052 PubMed: Elting et al. 2008 - - Germline yes 4/100 alleles - - - DNA SEQ - - JBS - PubMed: Elting 2008 #1; PubMed: Sukalo 2014 #19.1 - F yes Turkey - >07y01m - - - 1 Maja Sukalo
+?/+? 26i c.2839+5G>A r.spl? p.? Both (homozygous) - likely pathogenic g.43314895C>T g.43022697C>T IVS26+5G>A - UBR1_000025 not in 200 control chromosomes tested; Splice site affected; demonstrated on RNA level; probable effect on protein: p.(Arg947Aspfs*7); HGMD CS086052 PubMed: Elting et al. 2008 - - Germline yes 4/100 alleles - - - DNA SEQ - - JBS - PubMed: Elting 2008 (sister of #1); PubMed: Sukalo 2014 #19.2 - F yes Turkey - >22y - - - 1 Maja Sukalo
+?/+? 26i c.2839+5G>A r.spl? p.? Both (homozygous) - likely pathogenic g.43314895C>T g.43022697C>T IVS26+5G>A - UBR1_000025 not in 200 control chromosomes tested; Splice site affected; demonstrated on RNA level; probable effect on protein: p.(Arg947Aspfs*7); HGMD CS086052 PubMed: Elting et al. 2008 - - Germline yes 4/100 alleles - - - DNA SEQ - - JBS - PubMed: Elting 2008 #2; PubMed: Sukalo 2014 #25.1 - F yes Iran - >05y06m - - - 1 Maja Sukalo
+?/+? 15 c.2839+5G>A r.spl? p.? Both (homozygous) - likely pathogenic g.43314895C>T g.43022697C>T IVS26+5G>A - UBR1_000025 not in 200 control chromosomes tested; Splice site affected; demonstrated on RNA level; probable effect on protein: p.(Arg947Aspfs*7); HGMD CS086052 PubMed: Elting et al. 2008 - - Germline yes 4/100 alleles - - - DNA SEQ - - JBS - PubMed: Elting 2008 (sister of #2); PubMed: Sukalo 2014 #25.2 - F yes Iran - 00y03m - - - 1 Maja Sukalo
+?/+? 26i c.2839+5G>A r.spl? p.? Both (homozygous) - likely pathogenic g.43314895C>T g.43022697C>T - - UBR1_000025 - - - - Germline yes - - - - DNA SEQ - - JBS - - - F yes Turkey - >01y00m - - - 1 Maja Sukalo
?/. - c.2924T>C r.(?) p.(Ile975Thr) Unknown - VUS g.43313489A>G g.43021291A>G UBR1(NM_174916.2):c.2924T>C (p.(Ile975Thr)) - UBR1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 29 c.3055C>T r.(?) p.(Arg1019*) Both (homozygous) - likely pathogenic g.43308040G>A g.43015842G>A - - UBR1_000069 - - - - Germline yes - - - - DNA SEQ - - JBS - - - F yes Turkey - >00y05m - - - 1 Maja Sukalo
+?/+? 29 c.3055C>T r.(?) p.(Arg1019*) Maternal (confirmed) - likely pathogenic g.43308040G>A g.43015842G>A - - UBR1_000069 - PubMed: Corona-Rivera et al. 2016 - - Germline yes - - - - DNA SEQ - - JBS - PubMed: Corona-Rivera 2016 #1 - M no Mexico - 00y02m - - - 1 Maja Sukalo
+?/+? 29 c.3055C>T r.(?) p.(Arg1019*) Both (homozygous) - likely pathogenic g.43308040G>A g.43015842G>A - - UBR1_000069 - - - - Germline yes - - - - DNA SEQ - - JBS - - - M yes Turkey - >00y05m - - - 1 Maja Sukalo
+/. - c.3055C>T r.(?) p.(Arg1019Ter) Unknown - pathogenic g.43308040G>A g.43015842G>A UBR1(NM_174916.2):c.3055C>T (p.R1019*) - UBR1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3156T>C r.(?) p.(Tyr1052=) Unknown - likely benign g.43307939A>G g.43015741A>G UBR1(NM_174916.3):c.3156T>C (p.Y1052=) - UBR1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3188A>G r.(?) p.(Asp1063Gly) Unknown - likely benign g.43307907T>C g.43015709T>C UBR1(NM_174916.2):c.3188A>G (p.(Asp1063Gly)) - UBR1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3210-4G>A r.spl? p.? Unknown - VUS g.43299486C>T - UBR1(NM_174916.3):c.3210-4G>A - UBR1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 29i_30i c.(3209+1_3210-1)_(3415+1_3416-1)dup r.(?) p.(Glu1139Alafs*27) Maternal (confirmed) - likely pathogenic g.(43296129_43299277)_(43299483_43307885)dup - - - UBR1_000066 duplication exon 30 - - - Germline yes - c.(3209+1_3210-1)_(3415+1_3416-1)dup - - DNA MLPA - - JBS - - - M no - white >00y08m - - - 1 Maja Sukalo
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