Full data view for gene PEX7

This database is one of the dbPEX gene variant databases.
Information The variants shown are described using the NM_000288.3 transcript reference sequence.

114 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     
+?/. 9 c.875T>A r.(?) p.(Leu292*) Maternal (confirmed) ACMG likely pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 ACMG PP4, PM3, PS1, PVS1, PM2, PP5 PubMed: Silveira 2021, Journal: Silveira 2021 - - Germline - - - - - DNA SEQ-NG-I - - RCDP1 Pat29 PubMed: Silveira 2021, Journal: Silveira 2021 - M ? - - - - - - 1 Karina Silveira
+/. - c.875T>A r.(?) p.(Leu292Ter) Unknown - pathogenic g.137219351T>A g.136898213T>A PEX7(NM_000288.3):c.875T>A (p.L292*, p.(Leu292*)), PEX7(NM_000288.4):c.875T>A (p.L292*) - PEX7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.875T>A r.(?) p.(Leu292Ter) Unknown - pathogenic g.137219351T>A g.136898213T>A PEX7(NM_000288.3):c.875T>A (p.L292*, p.(Leu292*)), PEX7(NM_000288.4):c.875T>A (p.L292*) - PEX7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.875T>A r.(?) p.(Leu292Ter) Unknown - pathogenic g.137219351T>A g.136898213T>A PEX7(NM_000288.3):c.875T>A (p.L292*, p.(Leu292*)), PEX7(NM_000288.4):c.875T>A (p.L292*) - PEX7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.875T>A r.(?) p.(Leu292Ter) Unknown - pathogenic g.137219351T>A g.136898213T>A PEX7(NM_000288.3):c.875T>A (p.L292*, p.(Leu292*)), PEX7(NM_000288.4):c.875T>A (p.L292*) - PEX7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.875T>A r.(?) p.(Leu292Ter) Unknown - pathogenic g.137219351T>A g.136898213T>A PEX7(NM_000288.3):c.875T>A (p.L292*, p.(Leu292*)), PEX7(NM_000288.4):c.875T>A (p.L292*) - PEX7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.875T>A r.(?) p.(Leu292Ter) Unknown - pathogenic g.137219351T>A g.136898213T>A PEX7(NM_000288.3):c.875T>A (p.L292*, p.(Leu292*)), PEX7(NM_000288.4):c.875T>A (p.L292*) - PEX7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD070 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD073 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD076 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA ASO, SEQ - - PBD PBD077 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD079 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD081 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD082 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD123 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD125 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA ASO - - PBD PBD128 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA ASO - - PBD PBD129 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD130 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD140 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD141 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 no variant 2nd chromosome PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD142 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD148 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 no variant 2nd chromosome PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD410 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 no variant 2nd chromosome PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD411 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD414 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD415 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD416 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD417 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD418 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD420 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD421 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD422 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD424 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD425 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 no variant 2nd chromosome PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD427 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD435 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA ASO, SEQ - - PBD PBD137 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD426 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD432 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.875u>a p.Leu292* Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Motley 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PBD - PubMed: Motley 2002 - - - Netherlands - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Parent #1 - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Steven Steinberg
+/. 9 c.875T>A r.(?) p.(Leu292*) Both (homozygous) - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Both (homozygous) - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Both (homozygous) - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Both (homozygous) - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Both (homozygous) - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - - - - Germline - - - - - DNA SEQ - - PBD - - - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Both (homozygous) - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD071 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Both (homozygous) - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD074 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Both (homozygous) - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD078 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Both (homozygous) - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD080 PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
+/. 9 c.875T>A r.(?) p.(Leu292*) Both (homozygous) - pathogenic (recessive) g.137219351T>A g.136898213T>A - - PEX7_000001 - PubMed: Braverman 1997, PubMed: Braverman 2002 - - Germline - - - - - DNA SEQ - - PBD PBD122 PubMed: Braverman 1997, PubMed: Braverman 2002 - - - - - - - - - 1 Nancy Braverman
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