Full data view for gene BCL2L2-PABPN1

Information The variants shown are described using the NM_001199864.1 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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.433-706_433-689dup r.(=) p.(=) Unknown - likely pathogenic g.23790684_23790701dup - PABPN1(NM_004643.3):c.6_23dupGGCGGCGGCGGCGGCGGC (p.A6_A11dup) - PABPN1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; homozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease D3 PubMed: Braverman 2017 family D (BJ) brother of 4 and 5 M yes - - 56y - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; homozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease D4 PubMed: Braverman 2017 family D (BJ) sister of 5 and 3 F yes - - 51y - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; homozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease D5 PubMed: Braverman 2017 family D (BJ) brother of 4 and 3 M yes - - 50y - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD D1 PubMed: Braverman 2017 family D (BJ) father of 3, 4, 5 M yes - - 72y - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD D2 PubMed: Braverman 2017 family D (BJ) mother of 3, 4, 5 F yes - - 89y - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD A2 PubMed: Braverman 2017 family D (BJ) son of 5 M - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease A1 PubMed: Braverman 2017 family A, mother of 2 and 3 F - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD A2 PubMed: Braverman 2017 family A, daughter1 of 1 F - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD A3 PubMed: Braverman 2017 family A, daughter2 of 1 F - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Both (homozygous) - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; not tested (extrapolated as homozygous) PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing retinal disease B PubMed: Braverman 2017 family B F - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD C PubMed: Braverman 2017 family C M - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; not tested (extrapolated as heterozygous) PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD E PubMed: Braverman 2017 family E F - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; not tested (extrapolated as heterozygous) PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD F PubMed: Braverman 2017 family F F - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD G PubMed: Braverman 2017 family G M - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD H PubMed: Braverman 2017 family H M - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD I PubMed: Braverman 2017 family I F - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; not tested (extrapolated as heterozygous) PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD J PubMed: Braverman 2017 family J F - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD K PubMed: Braverman 2017 family K F - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD L PubMed: Braverman 2017 family L F - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; not tested (extrapolated as heterozygous) PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD M PubMed: Braverman 2017 family M F - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD N PubMed: Braverman 2017 family N F - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD O PubMed: Braverman 2017 family O F - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD P PubMed: Braverman 2017 family P F - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD Q PubMed: Braverman 2017 family Q F - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD R PubMed: Braverman 2017 family R M - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD S PubMed: Braverman 2017 family S M - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; heterozygous PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD T PubMed: Braverman 2017 family T F - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; not tested (extrapolated as heterozygous) PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD U PubMed: Braverman 2017 family U M - - - - - - - 1 LOVD
+/. - c.433-697_433-689dup r.(=) p.(=) Unknown - pathogenic g.23790693_23790701dup g.23321484_23321492dup PAPBN1 (GCN)13 - PABPN1_000003 probably c.15_23dup, annotation incorrect; not tested (extrapolated as heterozygous) PubMed: Braverman 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing OPMD V PubMed: Braverman 2017 family V M - - - - - - - 1 LOVD
?/. - c.433-691_433-689dup r.(=) p.(=) Unknown - VUS g.23790699_23790701dup g.23321490_23321492dup BCL2L2-PABPN1(NM_001199864.1):c.433-710_433-709insGGC (p.(=)) - PABPN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.433-689_433-688insGGCAGC r.(=) p.(=) Unknown - pathogenic g.23790701_23790702insGGCAGC - PABPN1(NM_004643.3):c.21_22insGCGGCA (p.(Ala10_Ala11dup)) - BCL2L2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.433-629T>G r.(=) p.(=) Unknown - VUS g.23790761T>G - PABPN1(NM_004643.4):c.83T>G (p.(Val28Gly)) - BCL2L2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.433-477_433-476insT r.(=) p.(=) Unknown - VUS g.23790913_23790914insT - PABPN1(NM_004643.4):c.235_236insT (p.(Ala79Valfs*30)) - BCL2L2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.555G>A r.(?) p.(Pro185=) Unknown - benign g.23792215G>A g.23323006G>A PABPN1(NM_004643.4):c.474G>A (p.P158=) - PABPN1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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