Full data view for gene PBX1

Information The variants shown are described using the NM_002585.3 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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.(?_-30)_(*220_?)del r.0? p.0? Unknown - pathogenic g.(?_164529030)_(164816133_?)del g.(?_164559793)_(164846896_?)del - - NPHS2_000000 - PubMed: Heidet 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K136 PubMed: Heidet 2017 affected patient and 1st degree relative - - France - - - - - 2 Johan den Dunnen
+/. - c.(?_-30)_(*220_?)del r.0? p.0? Unknown - pathogenic g.(?_164529030)_(164816133_?)del g.(?_164559793)_(164846896_?)del - - NPHS2_000000 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K181 PubMed: Heidet 2017 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - 1 Johan den Dunnen
+?/. - c.191+1G>A r.spl p.? Unknown ACMG likely pathogenic g.164529251G>A g.164560014G>A - - PBX1_000020 - - ClinVar-3374741 - De novo - - - - - DNA SEQ-NG-I peripheral blood CES ? - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
-?/. - c.192-12dup r.(=) p.(=) Unknown - likely benign g.164532463dup - PBX1(NM_002585.3):c.192-12dupT - PBX1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.192A>G r.(?) p.(Arg64=) Unknown - likely benign g.164532475A>G - PBX1(NM_002585.3):c.192A>G (p.R64=) - PBX1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.353_354del r.(?) p.(Ala118GlyfsTer3) Unknown - likely pathogenic g.164761818_164761819del g.164792581_164792582del PBX1(NM_002585.3):c.353_354delCG (p.A118Gfs*3) - PBX1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.393_401dup r.(?) p.(Ala133_Ala135dup) Unknown - VUS g.164761858_164761866dup - PBX1(NM_002585.4):c.393_401dupAGCGGCGGC (p.A133_A135dup) - PBX1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.414G>C r.(?) p.(Gly138=) Unknown - likely benign g.164761879G>C - PBX1(NM_002585.3):c.414G>C (p.G138=) - PBX1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.428del r.(?) p.(Asn143Thrfs*37) Unknown - pathogenic g.164761893del g.164792656del 428delA - PBX1_000007 - PubMed: Heidet 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K175 PubMed: Heidet 2017 2-generation family, 1 affected, unaffected non-carrier parents F - France - - - - - 1 Johan den Dunnen
-?/. - c.510+8G>T r.(=) p.(=) Unknown - likely benign g.164761983G>T - PBX1(NM_002585.4):c.510+8G>T - PBX1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.511-19G>T r.(=) p.(=) Unknown - likely benign g.164768917G>T - PBX1(NM_002585.3):c.511-19G>T - PBX1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.511-2A>G r.spl p.? Unknown - pathogenic g.164768934A>G g.164799697A>G - - PBX1_000009 - PubMed: Heidet 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K186 PubMed: Heidet 2017 2-generation family, affected fetus, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
-?/. - c.534C>T r.(?) p.(His178=) Unknown - likely benign g.164768959C>T - PBX1(NM_002585.3):c.534C>T (p.H178=) - PBX1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.550C>T r.(?) p.(Arg184*) Unknown - VUS g.164768975C>T g.164799738C>T - - PBX1_000008 - PubMed: Heidet 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K179 PubMed: Heidet 2017 2-generation family, 1 affected, unaffected non-carrier parents F - France - - - - - 1 Johan den Dunnen
+/. - c.649C>T r.(?) p.(Gln217*) Maternal (confirmed) ACMG pathogenic (maternal) g.164769074C>T g.164799837C>T - - PBX1_000017 inherited from mother with childhood-limited intellectual impairment, outer ear abnormality (persistent) - - - Germline yes - - - - DNA SEQ-NG-I - - CAKUTHED - - - - - - - - - - - 1 Marketa Wayhelova
-?/. - c.693G>C r.(?) p.(Leu231=) Unknown - likely benign g.164769118G>C g.164799881G>C PBX1(NM_002585.3):c.693G>C (p.L231=) - PBX1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.701G>T r.(?) p.(Arg234Leu) Unknown - VUS g.164769126G>T - PBX1(NM_001204961.1):c.701G>T (p.(Arg234Leu)) - PBX1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.701+13T>G r.(=) p.(=) Unknown - likely benign g.164769139T>G - PBX1(NM_002585.3):c.701+13T>G - PBX1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.704G>T r.(?) p.(Arg235Leu) Unknown - pathogenic g.164776781G>T g.164807544G>T - - PBX1_000002 de novo mutation - - - De novo - - - - - DNA SEQ blood - SRXY - - - rF - - - - - - - 1 Kenneth Mcelreavey
?/. - c.758A>G r.(?) p.(Tyr253Cys) Unknown - VUS g.164776835A>G - PBX1(NM_002585.4):c.758A>G (p.Y253C) - PBX1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.771C>T r.(?) p.(Ser257=) Unknown - likely benign g.164776848C>T - PBX1(NM_002585.4):c.771C>T (p.S257=) - PBX1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.787G>A r.(?) p.(Glu263Lys) Unknown - VUS g.164776864G>A g.164807627G>A - - PBX1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.862C>T r.(?) p.(Arg288Ter) Unknown - VUS g.164781251C>T g.164812014C>T - - PBX1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1008T>G r.(?) p.(Ser336Arg) Unknown - VUS g.164789319T>G - PBX1(NM_002585.3):c.1008T>G (p.S336R) - PBX1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1046G>A r.(?) p.(Ser349Asn) Unknown - VUS g.164789357G>A - PBX1(NM_002585.4):c.1046G>A (p.(Ser349Asn)) - PBX1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1123C>T r.(?) p.(Arg375Cys) Unknown - VUS g.164790786C>T - PBX1(NM_002585.4):c.1123C>T (p.R375C) - PBX1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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