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LOVD - Variant listings for RB1

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978 public entries
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?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam245 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam645 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam792 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam884 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam641 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam759 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam850 bilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam877 unilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - CU001 bilateral rb germline blood DNA - familial Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - 21 bilateral rb germline blood DNA - familial Sampieri et al. (2006) J Hum Genet 51: 209 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - T14 bilateral sporadic - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - RB-1 bilateral rb germline blood DNA - isolated - 1 published -
?/? g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 somatic Br04X other cancer somatic nd DNA - - COSMIC - COSM888 1 - -
?/? g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 germline #11 bilateral rb germline blood DNA - isolated Seo et al., 2012 1 published -
?/? g.78250C>T c.1666C>T substitution 17_ex - p.Arg556* - nonsense RB1_00124 germline #704 bilateral rb germline blood DNA unknown isolated Renieri - Siena 1 unpublished -
?/? g.99362C>T c.1695+21083C>T substitution 17_in - variant - variant RB1_01076 - not provided no cancer - nd DNA - - Lohmann - Essen 1 published -
?/? g.99426C>T c.1695+21147C>T substitution 17_in - variant - variant RB1_00988 - not provided no cancer - nd DNA - - - 1 published -
?/? g.149991>T c.1696-7C>T Substitution 17_in - - - unknown RB1_01818 unknown 1KG_13_49027122 other cancer unknown nd DNA - - http://www.1000genomes.org/ 1 published -
?/? g.150002C>T c.1700C>T substitution 18_ex - p.Ser567Leu - missense RB1_00004 - RB-104 bilateral rb germline blood DNA - - Yandell et al., 1989 1 published -
?/? g.150002C>T c.1700C>T substitution 18_ex - p.Ser567Leu - missense RB1_00004 - E591 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/+ g.150025C>T c.1723C>T substitution 18_ex - p.Gln575X - nonsense RB1_00128 - G461 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.150025C>T c.1723C>T substitution 18_ex - p.Gln575X - nonsense RB1_00128 - #296 bilateral rb germline blood DNA not reported isolated Sippel et al., 1998 1 published -
?/+ g.150025C>T c.1723C>T substitution 18_ex - p.Gln575X - nonsense RB1_00128 - Fam199 unilateral rb somatic retinoblastoma DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.150025C>T c.1723C>T substitution 18_ex - p.Gln575X - nonsense RB1_00128 - not provided unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.150025C>T c.1723C>T substitution 18_ex - p.Gln575X - nonsense RB1_00128 - not provided - somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.150025C>T c.1723C>T substitution 18_ex - p.Gln575X - nonsense RB1_00128 - not provided unilateral rb somatic nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.150025C>T c.1723C>T substitution 18_ex - p.Gln575X - nonsense RB1_00128 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.150025C>T c.1723C>T substitution 18_ex - p.Gln575X - nonsense RB1_00128 - Fam610 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.150025C>T c.1723C>T substitution 18_ex - p.Gln575X - nonsense RB1_00128 - Fam475 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.150025C>T c.1723C>T substitution 18_ex - p.Gln575* - nonsense RB1_00128 somatic #570/2013 unilateral rb somatic tumour DNA heterozygous isolated Renieri - Siena 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - RB427 bilateral rb germline blood DNA not reported - Blanquet et al., 1994 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - RB399 bilateral rb germline blood DNA not reported - Blanquet et al., 1995 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - RB160 rb germline blood DNA not reported familial Blanquet et al., 1995 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Nip bilateral rb germline blood DNA not reported - Cowell et al., 1994 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Nip bilateral rb germline blood DNA not reported - Cowell et al., 1994 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Nip bilateral rb germline blood DNA not reported - Cowell et al., 1994 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - E526T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - G817 bilateral rb germline inherited blood DNA - familial Lohmann et al., 1996 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - G445 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - G852 rb germline blood DNA - familial Lohmann et al., 1996 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - G1313 rb germline blood DNA - familial Lohmann et al., 1996 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Rb1 bilateral rb germline blood DNA not reported isolated Szijan et al., 1994 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - E42 rb germline blood DNA - familial Yilmaz et al., 1998 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - G493 unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - E712T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - RB-198 bilateral rb germline blood DNA - isolated Mateu et al., 1997 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - HC3 bilateral rb germline retinoblastoma DNA - isolated Braggio et al. (2004) J Clin Pathol 57(6): 585-90. 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - HC19 unilateral rb somatic retinoblastoma DNA - - Braggio et al. (2004) J Clin Pathol 57(6): 585-90. 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Fam127 unilateral rb somatic nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Fam196 unilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Fam319 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Fam358 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Fam494 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Fam496 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Fam552 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Fam581 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - not provided rb germline blood DNA - - Dalamon et al (2001) Ophthalmic Res 33(6):336-9 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - not provided - germline chorionic villus DNA - familial Dalamon et al (2001) Ophthalmic Res 33(6):336-9 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Rb211 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Rb217 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Rb230 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - E1822 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - E4882 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - E928 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - not provided - - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - E3721 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - not provided bilateral rb - nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - E2057 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - E2455 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - E2466 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - E2661 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - not provided - - nd DNA - not reported Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - E2636 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - E3938 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - E599 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - E4107 bilateral rb germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - not provided bilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - not provided - somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Fam899 unilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Fam184 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Fam325 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Fam366 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Fam488 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Fam633 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Fam789 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Fam845 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Fam945 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Fam779 bilateral rb germline nd DNA - - not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Fam884 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - Fam767 bilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.150037C>T c.1735C>T substitution 18_ex - p.Arg579X - nonsense RB1_00129 - 17b bilateral rb germline blood DNA - isolated - 1 published -
701 - 800
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Legend: [ RB1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. g-position: Variation at DNA level according to GenBank accession number L11910 (NCBI Genbank) cDNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Exon: Exon numbering. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. RBWiki: RBWiki expected consequence type: expected consequence type at protein level, e.g. frameshift, missense RB1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. originated_in: data on the cell of origin, either germline or somatic (mosaic mutations are of somatic origin) Patient ID: Internal reference to the patient. Phenotype: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Mut. origin: Origin of mutation Tissue: Tissue type the variant was detected in. Template: Variant detected in DNA, RNA and/or Protein. tumor-genotype: Genotype of the tumor cells family history: Occurrence of the tumor in the family Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Published: Patient data is published in a paper

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