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LOVD - Variant listings for RB1

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?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - E1025 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - E5410 bilateral rb germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - E1944 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - E2772 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - E3205 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - E3541 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - E437 bilateral rb germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided - germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided - somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Fam455 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Fam479 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Fam707 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Fam755 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Fam774 unilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - Fam629 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - 5u unilateral rb germline blood DNA - isolated - 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - 5u rb germline nd DNA - isolated - 1 - -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - 197/97 bilateral rb germline blood DNA - isolated Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - 237 bilateral rb germline blood DNA - isolated Dalamon et al. (2004) J Biochem Mol Biol 37: 246 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - CO313 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - 29 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - T15 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - F3020 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - F5058 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - 24 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - 25 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - 26 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - not provided rb germline blood DNA - - Zhang et al. (1997) Yan Ke Xue Bao 13: 5 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - RB-56 bilateral rb germline blood DNA - isolated - 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - F9; pt# 16 bilateral retinoma germline blood DNA - familial Abouzeid et al. (2009), Mol Vis.;15:771-7 1 published -
?/+ g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 - F9; pt# 17 unilateral rb/retinoma germline blood DNA - familial Abouzeid et al. (2009), Mol Vis.;15:771-7 1 published -
?/? g.162237C>T c.2359C>T
    + c.1332+1G>A		 substitution 23_ex - p.Arg787X - nonsense RB1_00005 germline E2550 unilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - new germline mutation
?/? g.162237C>T c.2359C>T
    + c.1333-2A>G		 substitution 23_ex - p.Arg787X - nonsense RB1_00005 somatic E5516 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - -
?/? g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 germline RB5 bilateral rb germline blood DNA - - Abidi et al. (2011) Mol Vis.;17:3541-7 1 published -
?/? g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 somatic TCGA-02-0007 other cancer somatic nd DNA - - COSMIC - COSM23824 1 published -
?/? g.162237C>T c.2359C>T substitution 23_ex - p.Arg787* - nonsense RB1_00005 germline #779 bilateral rb germline blood DNA unknown isolated Renieri - Siena 1 unpublished -
+/? g.162237C>T c.2359C>T substitution 23_ex - p.Arg787X - nonsense RB1_00005 unknown Tab_1_14 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.162238G>A c.2360G>A substitution 23_ex - p.Arg787Gln - - RB1_01316 - 1093 unilateral rb germline blood DNA - familial lp Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.162241G>C c.2363G>C substitution 23_ex - p.Ser788Thr - missense RB1_00174 - TS17 bilateral rb germline blood DNA not reported isolated Liu et al., 1995 1 published -
?/+ g.162241_162262dup c.2363_2384dup insertion 23_ex - - - frameshift RB1_00434 - E3184 bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.162243_162244del c.2365_2366del Deletion 23_ex - p.(Pro789Leufs*5) - frameshift RB1_02092 germline P_20140723_433 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/? g.162244delC c.2366delC Deletion 23_ex - - - unknown RB1_01705 somatic ng_un_is_tu_180 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished 2nd mutation in tumor (1st was c.751C>T)
?/? g.162246delT c.2368delT Deletion 23_ex - - - unknown RB1_01773 somatic ge_is_notu_30 no cancer mosaicism blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.162247_162248insT c.2369_2370insT Insertion 23_ex - p.Lys791Glnfs*4 - unknown RB1_01800 unknown rs67412362 other cancer unknown nd DNA - - dbSNP 1 published -
?/+ g.162248C>A c.2370C>A substitution 23_ex - p.Tyr790X - nonsense RB1_00282 - JA403 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/+ g.162248C>A c.2370C>A substitution 23_ex - p.Tyr790X - nonsense RB1_00282 - not provided - - nd DNA - not reported Lohmann - Essen 1 unpublished -
?/+ g.162248C>A c.2370C>A substitution 23_ex - p.Tyr790X - nonsense RB1_00282 - Fam490 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.162248C>A c.2370C>A substitution 23_ex - p.Tyr790X - nonsense RB1_00282 - Fam357 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.162248C>G c.2370C>G substitution 23_ex - p.Tyr790X - nonsense RB1_00276 unknown Fam33 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.162248C>G c.2370C>G substitution 23_ex - p.Tyr790X - nonsense RB1_00276 unknown not provided - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/+ g.162248C>G c.2370C>G substitution 23_ex - p.Tyr790X - nonsense RB1_00276 unknown not provided bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162248C>G c.2370C>G substitution 23_ex - p.Tyr790X - nonsense RB1_00276 unknown Fam879 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.162248delC c.2370delC Deletion 23_ex - p.(Tyr790*) - nonsense RB1_01948 unknown Supp_Tab_Mt-102 - - nd DNA - - Price et al., 2013 1 published -
?/+ g.162254del c.2376del deletion 23_ex - p.(Pro793Leufs*17) - frameshift RB1_00175 unknown TS88 rb germline blood DNA not reported familial Liu et al., 1995 1 published -
?/? g.162255_162256delCC c.2377_2378delCC Substitution 23_ex - p.(Pro793*) - nonsense RB1_01949 unknown Supp_Tab_Mt-103 - - nd DNA - - Price et al., 2013 1 published -
?/+ g.162258_162267del c.2380_2389del deletion 23_ex - p.Ser794Tyrfs*13 - frameshift RB1_00176 unknown G1129 bilateral rb germline blood DNA - isolated Lohmann et al., 1992 1 published -
+/+? g.162259G>T c.2381G>T Substitution 23_ex - p.Ser794Ile - missense RB1_01398 - Case No. 28 other cancer somatic tumor RNA hemi/homozygous unknown Miyomoto et al. (1995) Br J Cancer. 1995 Apr;71(4):831-5. 1 published bladder cancer
?/? g.162261dup c.2383dup Insertion 23_ex - p.(Ser795Phefs*20) - frameshift RB1_02093 germline P_20140723_455 unilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.162262C>G c.2384C>G substitution 23_ex - p.Ser795X - nonsense RB1_00959 - Fam523 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.162264delC c.2386del Substitution 23_ex - p.Leu797Tyrfs*13 - unknown RB1_01801 unknown rs66482475 other cancer unknown nd DNA - unknown dbSNP 1 published -
?/+ g.162264_162273del c.2386_2395del deletion 23_ex - p.Pro796Phefs*11 - frameshift RB1_00177 unknown G324 unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.162266del c.2388del deletion 23_ex - p.Leu797Tyrfs*13 - frameshift RB1_00537 unknown JA273 bilateral rb germline blood DNA - familial Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/? g.162266del c.2388del deletion 23_ex - p.Leu797Tyrfs*13 - frameshift RB1_00537 unknown RB-26 bilateral rb - nd DNA - - - 1 - -
?/+ g.162268del c.2390del deletion 23_ex - p.Leu797Tyrfs*13 - frameshift RB1_00336 somatic E1978 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.162268T>A c.2390T>A Substitution 23_ex p.Leu797X - - nonsense RB1_01501 germline Rb13 bilateral rb germline blood DNA - familial low penetrance Ata-ur-Rasheed et al. (2002) Ophthalmic Genet.(2):121-8. 1 published Patient had an affected sibling and unaffected parents
?/+ g.162268T>G c.2390T>G substitution 23_ex - p.Leu797X - nonsense RB1_00731 germline E3917 - germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/? g.162268_162284del c.2390_2406del Deletion 23_ex - - - unknown RB1_01802 somatic TCGA-13-1509-01 other cancer somatic tumor DNA - unknown COSMIC - COSM69075 1 published -
?/+ g.162269dup c.2391dup insertion 23_ex - p.Arg798Thrfs*17 - frameshift RB1_00528 unknown SNU-RB29 bilateral rb germline blood DNA - isolated Yu et al. (2001) Hum Mutat 18(3): 252. 1 published -
?/? g.162270C>T c.2392C>T substitution 23_ex - p.Arg798Trp - - RB1_01373 - PA-1 other cancer - ovarian carcinoma cell li DNA heterozygous - - 1 published ovarian cancer
?/? g.162271G>A c.2393G>A substitution 23_ex - p.Arg798Gln - missense RB1_00572 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? - c.2393G>A Substitution 23 r.2326_2489delins2325+1_2325+11; r.2393G>A p.Pro776_Arg830delinsValGlyGlnLys; p.Arg798Gln - splice RB1_00572 germline 102/18 other cancer germline blood DNA unknown unknown Italy:Siena 1 - -
?/+ g.162272dup c.2394dup insertion 23_ex - p.Ile799Aspfs*16 - frameshift RB1_00303 unknown E1474 bilateral rb - nd DNA - not reported Lohmann - Essen 1 unpublished -
?/+ g.162279G>T c.2401G>T substitution 23_ex - p.Gly801X - nonsense RB1_00945 - Fam822 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.162279G>T c.2401G>T substitution 23_ex - p.Gly801X - nonsense RB1_00945 somatic DMS-79 other cancer somatic nd DNA - - COSMIC - COSM13410 1 published -
?/? g.162280delG c.2402delG Deletion 23_ex - - - unknown RB1_01658 germline bilateral_464 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
+/? - c.2403del Substitution 23_ex - p.(Asn803Thrfs*7) - frameshift RB1_02041 unknown Tab_1_19 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/? g.162286dupA c.2408dupA Duplication 23_ex - p.(Asn803Lysfs*12) - frameshift RB1_01905 unknown Supp_Tab_Mt-104 - - nd DNA - - Price et al., 2013 1 published -
?/+ g.162293del c.2415del deletion 23_ex - p.(Tyr805*) - nonsense RB1_00178 unknown G1356 rb germline inherited blood DNA - familial Lohmann et al., 1994 1 published -
?/+ g.162293del c.2415del deletion 23_ex - p.(Tyr805*) - nonsense RB1_00178 unknown G407 bilateral rb germline blood DNA - isolated Lohmann et al., 1994 1 published -
+/? - c.2416dup Duplication 23_ex - p.Ile806Asnfs*9 - frameshift RB1_01995 germline fam-no_20064201 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published -
?/? g.162294_ g.162295delAT c.2416_17delAT Deletion 23_ex - - - frameshift RB1_01685 somatic ge_uni_iso_tu36 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished found as 2nd mut in tumor, c.1466G>A is in blood
?/? g.162298C>A c.2420C>A Substitution 23_ex - p.(Ser807*) - nonsense RB1_01950 unknown Supp_Tab_Mt-105 - - nd DNA - - Price et al., 2013 1 published -
?/? g.162300C>T c.2422C>T Substitution 23_ex - p.Pro808Ser - missense RB1_02013 somatic #748 bilateral rb somatic tumour DNA heterozygous isolated Renieri - Siena 1 unpublished -
?/+ g.162300_162318del c.2422_2440del deletion 23_ex - p.(Pro808Lysfs*12) - frameshift RB1_01306 unknown KS-149 other tumor somatic osteosarcoma DNA homozygous - Wadayama et al., 1994 1 published -
?/+ g.162303del c.2425del deletion 23_ex - p.(Leu809*) - nonsense RB1_00179 unknown G10 bilateral rb germline inherited blood DNA - familial Lohmann et al., 1994 1 published -
?/? g.162304_162305insT c.2426_2427insT Insertion 23_ex - - - frameshift RB1_01657 germline bilateral_463 bilateral rb germline blood DNA - unknown not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.162306A>T c.2428A>T Substitution 23_ex - p.Lys810X - unknown RB1_01766 somatic ng_un_is_tu_459 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.162306A>T c.2428A>T Substitution 23_ex - p.Lys810X - nonsense RB1_01766 somatic Supp_Tab_Mt-106 - - nd DNA - - Price et al., 2013 1 published -
?/? g.162313delC c.2435delC Deletion 23_ex - p.(Pro812Hisfs*14) - frameshift RB1_01906 unknown Supp_Tab_Mt-107 - - nd DNA - - Price et al., 2013 1 published -
3101 - 3200
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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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