Full data view for gene TULP1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_003322.3 transcript reference sequence.

74 entries on 1 page. Showing entries 1 - 74.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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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     

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Age at death     

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+?/. - c.(901C>T) r.(?) p.(Gln301*) Both (homozygous) - likely pathogenic g.35473878G>A g.35506101G>A TULP1 p.Q301Ter - TULP1_000004 no nucleotide annotation, extrapolated from protein and databases; homozygous PubMed: Jacobson 2014 - - Germline yes - - - - DNA ? - - retinal disease P1 PubMed: Jacobson 2014 sibling of P2 F - United States - - - - - 1 LOVD
+?/. - c.(901C>T) r.(?) p.(Gln301*) Both (homozygous) - likely pathogenic g.35473878G>A g.35506101G>A TULP1 p.Q301Ter - TULP1_000004 no nucleotide annotation, extrapolated from protein and databases; homozygous PubMed: Jacobson 2014 - - Germline yes - - - - DNA ? - - retinal disease P2 PubMed: Jacobson 2014 sibling of P1 M - United States - - - - - 1 LOVD
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 5 Generation family, 3 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 5 Generation family, 3 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 5 Generation family, 3 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 16 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 2 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 2 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 6 Generation family, 14 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 4 Generation family, 2 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+/? 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A codon position 301(Q301X) - TULP1_000004 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Li 2009 4 Generation family, 2 affected ? yes Saudi Arabia - - - - - 1 Raheel Qamar
+?/. - c.901C>T r.(?) p.(Gln301Ter) Unknown - likely pathogenic g.35473878G>A g.35506101G>A - - TULP1_000004 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 09DG00491 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.901C>T r.(?) p.(Gln301Ter) Unknown - likely pathogenic g.35473878G>A g.35506101G>A - - TULP1_000004 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 09DG00492 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.901C>T r.(?) p.(Gln301Ter) Unknown - likely pathogenic g.35473878G>A g.35506101G>A - - TULP1_000004 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 11DG0480 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.901C>T r.(?) p.(Gln301Ter) Unknown - likely pathogenic g.35473878G>A g.35506101G>A - - TULP1_000004 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 12DG0751 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.901C>T r.(?) p.(Gln301Ter) Unknown - likely pathogenic g.35473878G>A g.35506101G>A - - TULP1_000004 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 12DG2327 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.901C>T r.(?) p.(Gln301Ter) Unknown - likely pathogenic g.35473878G>A g.35506101G>A - - TULP1_000004 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 13DG2124 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.901C>T r.(?) p.(Gln301Ter) Unknown - likely pathogenic g.35473878G>A g.35506101G>A - - TULP1_000004 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 14DG0103 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
-/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - benign g.35473878G>A - c.901C>T - TULP1_000004 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Abu-Safieh-2013 # affected:2 (1) - - Saudi Arabia - - - - - 2 LOVD
-/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - benign g.35473878G>A - c.901C>T - TULP1_000004 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Abu-Safieh-2013 - - - Saudi Arabia - - - - - 3 LOVD
+/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A - c.901C>T - TULP1_000004 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Abu-Safieh-2013 Failed segregation test - - Saudi Arabia - - - - - 3 LOVD
+/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A - c.901C>T - TULP1_000004 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Abu-Safieh-2013 olfactory receptor family of proteins are not uncommonly truncated in healthy people - - Saudi Arabia - - - - - 3 LOVD
+/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A - c.901C>T - TULP1_000004 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Abu-Safieh-2013 Found in Saudi controls   - - Saudi Arabia - - - - - 3 LOVD
-/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - benign g.35473878G>A - c.901C>T - TULP1_000004 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Abu-Safieh-2013 - - - Saudi Arabia - - - - - 3 LOVD
?/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - VUS g.35473878G>A - c.901C>T - TULP1_000004 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Abu-Safieh-2013 # affected:6 (3); No eye phenotype in KO mouse - - Saudi Arabia - - - - - 6 LOVD
?/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - VUS g.35473878G>A - c.901C>T - TULP1_000004 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Abu-Safieh-2013 # affected:6 (3); Mutated in Huntington disease - - Saudi Arabia - - - - - 6 LOVD
?/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - VUS g.35473878G>A - c.901C>T - TULP1_000004 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Abu-Safieh-2013 Absent in Saudi controls - - Saudi Arabia - - - - - 1 LOVD
-/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - benign g.35473878G>A - c.901C>T - TULP1_000004 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Abu-Safieh-2013 - - - Saudi Arabia - - - - - 4 LOVD
+/. 10 c.901C>T r.? p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A - c.901C>T - TULP1_000004 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 - - no - - - - - - 1 Julia Lopez
+/. 10 c.901C>T r.? p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A - c.901C>T - TULP1_000004 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 - - no - - - - - - 1 Julia Lopez
+/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A - c.901C>T - TULP1_000004 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - M yes Saudi Arabia - - - - - 1 LOVD
+/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A - c.901C>T - TULP1_000004 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - M no Saudi Arabia - - - - - 1 LOVD
+/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A - c.901C>T - TULP1_000004 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F yes Saudi Arabia - - - - - 1 LOVD
+/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A - c.901C>T - TULP1_000004 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F yes Saudi Arabia - - - - - 1 LOVD
+/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A - c.901C>T - TULP1_000004 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - M ? Saudi Arabia - - - - - 1 LOVD
+/. - c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A TULP1 c.901C>T, p.Gln301Ter - TULP1_000004 homozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI766_001500 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic g.35473878G>A g.35506101G>A c.901C>T, p.Gln301Ter - TULP1_000004 homozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI766_001500 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. - c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic (recessive) g.35473878G>A - 895C>T (Q301X) - TULP1_000004 - PubMed: Aldahmesh 2009 - - Germline - - - - - DNA SEQ - - retinal disease DGU-F3 PubMed: Aldahmesh 2009 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.901C>T r.(?) p.(Gln301*) Both (homozygous) - pathogenic (recessive) g.35473878G>A - 895C>T (Q301X) - TULP1_000004 - PubMed: Aldahmesh 2009 - - Germline - - - - - DNA SEQ - - retinal disease DGU-F10 PubMed: Aldahmesh 2009 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - likely pathogenic g.35473878G>A g.35506101G>A TULP1 c.901C>T (p.Gln301*) - TULP1_000004 homozygous PubMed: Khan 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - retrospective study retinal disease 1 PubMed: Khan 2015 sibling of 2; retrospective consecutive case series M - Saudi Arabia - - - - - 1 LOVD
+?/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - likely pathogenic g.35473878G>A g.35506101G>A TULP1 c.901C>T (p.Gln301*) - TULP1_000004 homozygous PubMed: Khan 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - retrospective study retinal disease 2 PubMed: Khan 2015 sibling of 1; retrospective consecutive case series F - Saudi Arabia - - - - - 1 LOVD
+?/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - likely pathogenic g.35473878G>A g.35506101G>A TULP1 c.901C>T (p.Gln301*) - TULP1_000004 homozygous PubMed: Khan 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - retrospective study retinal disease 3 PubMed: Khan 2015 retrospective consecutive case series F - Saudi Arabia - - - - - 1 LOVD
+?/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - likely pathogenic g.35473878G>A g.35506101G>A TULP1 c.901C>T (p.Gln301*) - TULP1_000004 homozygous PubMed: Khan 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - retrospective study retinal disease 4 PubMed: Khan 2015 retrospective consecutive case series F - Saudi Arabia - - - - - 1 LOVD
+?/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - likely pathogenic g.35473878G>A g.35506101G>A TULP1 c.901C>T (p.Gln301*) - TULP1_000004 homozygous PubMed: Khan 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - retrospective study retinal disease 5 PubMed: Khan 2015 retrospective consecutive case series F - Saudi Arabia - - - - - 1 LOVD
+?/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - likely pathogenic g.35473878G>A g.35506101G>A TULP1 c.901C>T (p.Gln301*) - TULP1_000004 homozygous PubMed: Khan 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - retrospective study retinal disease 6 PubMed: Khan 2015 retrospective consecutive case series F - Saudi Arabia - - - - - 1 LOVD
+?/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - likely pathogenic g.35473878G>A g.35506101G>A TULP1 c.901C>T (p.Gln301*) - TULP1_000004 homozygous PubMed: Khan 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - retrospective study retinal disease 7 PubMed: Khan 2015 sibling of 8; retrospective consecutive case series M - Saudi Arabia - - - - - 1 LOVD
+?/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - likely pathogenic g.35473878G>A g.35506101G>A TULP1 c.901C>T (p.Gln301*) - TULP1_000004 homozygous PubMed: Khan 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - retrospective study retinal disease 8 PubMed: Khan 2015 sibling of 7; retrospective consecutive case series M - Saudi Arabia - - - - - 1 LOVD
+?/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - likely pathogenic g.35473878G>A g.35506101G>A TULP1 c.901C>T (p.Gln301*) - TULP1_000004 homozygous PubMed: Khan 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - retrospective study retinal disease 9 PubMed: Khan 2015 retrospective consecutive case series F - Saudi Arabia - - - - - 1 LOVD
+?/. 10 c.901C>T r.(?) p.(Gln301*) Both (homozygous) - likely pathogenic g.35473878G>A g.35506101G>A TULP1 c.901C>T (p.Gln301*) - TULP1_000004 homozygous PubMed: Khan 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - retrospective study retinal disease 10 PubMed: Khan 2015 retrospective consecutive case series F - Saudi Arabia - - - - - 1 LOVD
+/. - c.901C>T r.(?) p.(Gln301Ter) Both (homozygous) ACMG pathogenic (recessive) g.35473878G>A g.35506101G>A - - TULP1_000004 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-464 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.901C>T r.(?) p.(Gln301Ter) Both (homozygous) ACMG pathogenic (recessive) g.35473878G>A g.35506101G>A - - TULP1_000004 ACMG PVS1, PM2, PP5 PubMed: Basharat 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - smMIPs ? FamGPatV1 PubMed: Basharat 2024 relative F yes Pakistan - - - - - 1 Rabia Basharat
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