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LOVD - Variant listings for RB1

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+/? - c.2439dup Duplication 23_ex - p.(Lys814*) - frameshift RB1_01996 germline fam-no_20072084 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published -
?/? g.162317T>G c.2439T>G substitution 23_ex - p.Tyr813X - - RB1_00967 - Fam313 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.162316_162317dup c.2439_2440dup insertion 23_ex - p.Lys814Ilefs*13 - frameshift RB1_00180 unknown RB96 bilateral rb germline blood DNA not reported - Blanquet et al., 1995 1 published -
?/? g.162325C>A c.2447C>A Substitution 23_ex - p.Ser816X - unknown RB1_01659 germline bilateral_466 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.162325C>G c.2447C>G substitution 23_ex - p.Ser816X - nonsense RB1_00181 - G1241 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.162325C>G c.2447C>G substitution 23_ex - p.Ser816X - nonsense RB1_00181 - Fam700 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.162325C>G c.2447C>G substitution 23_ex - p.Ser816X - nonsense RB1_00181 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.162327G>T c.2449G>T substitution 23_ex - p.Glu817X - nonsense RB1_00588 - 23b bilateral rb germline blood DNA - familial - 1 published -
?/+ g.162327G>T c.2449G>T substitution 23_ex - p.Glu817X - nonsense RB1_00588 - 23b* bilateral rb germline blood DNA - familial JL Gala - Brussels 1 unpublished -
?/+ g.162329del c.2451del deletion 23_ex - - - frameshift RB1_00471 germline E3631 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
+/? - c.2455C>G Substitution 23_ex - p.(Leu819Val) - missense RB1_02045 unknown Tab_1_30 retinoblastoma unknown blood DNA hemi/homozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
-?/-? g.162333C>T c.2455C>T Substitution 23_ex - p.Leu819Leu p.Leu819Leu silent RB1_01451 - E2605 unilateral rb germline blood and tumor DNA heterozygous isolated Lohmann, Germany:Essen 1 unpublished also detecte in mother and grandmother both without tumor
-/- g.162341A>G c.2463A>G Substitution 23_ex - p.Thr821Thr Thr821Thr silent RB1_01431 - E5398 unilateral rb germline blood and tumor DNA LOH isolated Lohmann, Germany:Essen 1 unpublished identified in a tumor with LOH and an additional pathogenic mutation
?/? g.162343delC c.2465delC Deletion 23_ex - - - unknown RB1_01660 germline bilateral_470 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
+/? - c.2465dup Duplication 23_ex - p.Thr823Asnfs*15 - frameshift RB1_01997 germline fam-no_20001116 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published -
?/? g.162345del c.2467del Deletion 23_ex - p.(Thr823Glnfs*3) - frameshift RB1_02094 germline P_20140723_443 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.162348A>T c.2470A>T substitution 23_ex - p.Lys824X - nonsense RB1_01365 - RB-57 bilateral rb germline blood DNA - isolated - 1 published -
?/? g.162278insA c.2473-74insA Insertion 23_in - - - unknown RB1_01756 somatic ng_un_is_tu_440 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.162351delA c.2473delA Deletion 23_ex - p.(Met825*) - unknown RB1_01951 unknown Supp_Tab_Mt-108 - - nd DNA - - Price et al., 2013 1 published -
?/? g.162354_162372del19 c.2476_2489+5del19 Deletion 23_ex splice_donor del - - splice RB1_01907 unknown Supp_Tab_Mt-109 - - nd DNA - - Price et al., 2013 1 published -
?/+ g.162356_162357del c.2478_2479del deletion 23_ex - - - frameshift RB1_00938 - Fam691 bilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.162356_162362del c.2478_2484del deletion 23_ex - - - frameshift RB1_00905 - Fam761 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.162356_162364del c.2478_2486del Deletion 23_ex - - - frameshift RB1_01758 somatic ng_un_is_tu_447 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.162358del c.2480del deletion 23_ex - p.Pro827Glnfs*6 - frameshift RB1_00511 unknown not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.162364C>A c.2486C>A Substitution 23_ex - p.Ser829X - unknown RB1_01516 somatic SCLC-21H other cancer somatic nd DNA - - COSMIC - COSM13411 1 published -
?/? g.162364_162367dupCAAG c.2486_2489dupCAAG Substitution 23_ex - - - frameshift RB1_01691 somatic ge_uni_iso_tu65 unilateral rb mosaicism blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.162367G>C c.2489G>C Substitution 23_ex splice p.Arg830Thr - unknown RB1_01661 germline bilateral_473 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
+?/+? g.162367G>T c.2489G>T
    + c.1091A>C		 Substitution 23_ex - p.(Arg830Ile)/splice mutation - splice RB1_02055 germline E6458 bilateral rb germline blood DNA heterozygous isolated Lohmann, Germany:Essen 1 unpublished -
+?/? g.162368G>A c.2489+1G>A Substitution 23_in - - - splice RB1_01541 germline 541 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
?/? g.162368G>C c.2489+1G>C substitution 23_in altered splicing - - splice RB1_00308 - Fam317 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.162368G>C c.2489+1G>C substitution 23_in altered splicing - - splice RB1_00308 - Rb224 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/? g.162368G>C c.2489+1G>C substitution 23_in altered splicing - - splice RB1_00308 - E681T unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.162368G>C c.2489+1G>C substitution 23_in altered splicing - - splice RB1_00308 - 27 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/? g.162368G>T c.2489+1G>T substitution 23_in altered splicing - - splice RB1_00386 - Fam19 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.162368G>T c.2489+1G>T substitution 23_in altered splicing - - splice RB1_00386 - Fam530 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.162368G>T c.2489+1G>T substitution 23_in altered splicing - - splice RB1_00386 - E2822T unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.162368G>T c.2489+1G>T substitution 23_in altered splicing - - splice RB1_00386 - Fam906 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
+/+ g.162369T>A c.2489+2T>A Substitution 23_in - - - splice RB1_01870 germline E6151 unilateral rb germline blood DNA unknown isolated Lohmann, Germany:Essen 1 unpublished -
+/+? g.162369T>C c.2489+2T>C Substitution in_23 - - - splice RB1_01407 - RWH8629 unilateral rb germline tumor + blood DNA - - Anthony Raizis 1 unpublished Mutation identified in tumor DNA and subsequently found in peripheral blood DNA. Enucleated eye showed one larger detachted tumor mass, with possible multiple foci.
?/? g.162372G>A c.2489+5G>A substitution 23_in skip skip - splice RB1_00248 germline E268 bilateral rb germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.168974A>G c.2490-1398A>G substitution 23_in altered splicing - - splice RB1_00925 - Fam678 bilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.168974A>G c.2490-1398A>G substitution 23_in altered splicing - - splice RB1_00925 - T2 bilateral rb germline blood DNA - - Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? g.170278T>A c.2490-94T>A substitution 23_in - variant - variant RB1_01126 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.170293A>G c.2490-79A>G substitution 23_in - variant - variant RB1_01127 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.170327A>G c.2490-45A>G substitution 23_in - variant - variant RB1_01061 - not provided no cancer - nd DNA - - Lohmann - Essen 1 published -
?/? g.170327A>G c.2490-45A>G substitution 23_in - variant - variant RB1_01061 - not provided - - nd DNA - - dbSNP 1 - -
?/? g.170329A>G c.2490-43A>G substitution 23_in - variant - variant RB1_01084 - not provided no cancer - nd DNA - - Lohmann - Essen 1 published -
?/? g.170332G>T c.2490-40G>T substitution 23_in - - - unclear RB1_00473 germline E898 unilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.170346A>C c.2490-26A>C substitution 23_in altered splicing - - splice RB1_01269 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.170346A>G c.2490-26A>G substitution 23_in altered splicing - - splice RB1_01270 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.170346A>T c.2490-26A>T substitution 23_in - - - unclear RB1_00366 - not provided unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.170346A>T c.2490-26A>T substitution 23_in - - - unclear RB1_00366 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.170346A>T c.2490-26A>T substitution 23_in - - - unclear RB1_00366 - E6 unilateral rb somatic retinoblastoma DNA homozygous isolated Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? g.170364C>G c.2490-8C>G substitution 23_in altered splicing - - splice RB1_00589 - 24b bilateral rb germline blood DNA - isolated Brichard 2006 1 published -
?/? g.170365T>A c.2490-7T>A Substitution 23_in splice - - splice RB1_01693 germline ge_uni_iso_tu69 unilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.170365T>G c.2490-7T>G substitution 23_in skip e24 skip e24 - splice RB1_00331 - not provided bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.170365T>G c.2490-7T>G substitution 23_in skip e24 skip e24 - splice RB1_00331 - not provided - somatic nd DNA heterozygous not reported Lohmann - Essen 1 unpublished -
?/? g.170365T>G c.2490-7T>G substitution 23_in skip e24 skip e24 - splice RB1_00331 - E15 bilateral rb germline blood DNA - - Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? 170366T>A c.2490-6T>A substitution 23_in RT-PCR intron inclusion - splice RB1_01160 - RB-127 bilateral rb germline blood DNA - isolated Sanchez-Sanchez et al. (2005) Hum Mutat. 25(2):223. 1 published -
?/? 170366T>A c.2490-6T>A substitution 23_in RT-PCR intron inclusion - splice RB1_01160 - fRB22 bilateral rb germline blood DNA - isolated Najera et al. (2001) Med Clin (Barc) 116: 365 1 published -
?/? g.170369C>A c.2490-3C>A substitution 23_in altered splicing - - splice RB1_01154 - not provided unilateral rb somatic retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/? g.170369C>A c.2490-3C>A substitution 23_in altered splicing - - splice RB1_01154 - not provided unilateral rb somatic retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/? g.170369C>A c.2490-3C>A substitution 23_in altered splicing - - splice RB1_01154 - T24 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
+/? - c.2490-2A>G Substitution 23_in - - - splice RB1_01999 germline fam-no_19930768 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published No RNA available Predicted: located in the acceptor splice site of intron 23, leading to a skip of exon 24
+/? - c.2490-2_2490-1del Deletion 23_in - - - splice RB1_01998 germline fam-no_19980344 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published No RNA available Predicted: alters the acceptor splice site of exon 24, leading to a skip of exon 24
?/? g.170371G>A c.2490-1G>A Substitution 23_in splice_acceptor - - splice RB1_01908 unknown Supp_Tab_Mt-110 - - nd DNA - - Price et al., 2013 1 published -
?/? g.170371G>C c.2490-1G>C Substitution 23_in Essential splice site - - unknown RB1_01489 somatic TCGA-06-0206 other cancer somatic tumor DNA - - COSMIC - COSM35747 1 published -
?/? g.170371_170372del c.2490-1_2490del deletion 23_in altered splicing - - splice RB1_00477 germline E3756 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.170371_170372del c.2490-1_2490del deletion 23_in altered splicing - - splice RB1_00477 somatic S83195 other cancer somatic tumor DNA - - COSM1044, Henson et al, Ann Neurol. 1994;36;714-21 1 published -
?/? g.170371_170402del c.2490_2520del Substitution 24_in - p.Ile831Leufs*8 - unknown RB1_01804 somatic S83847 other cancer somatic tumor DNA - unknown COSMIC - COS930 1 published -
?/? g.170371_174438del c.2490_2713del Deletion 24_ex r.2490_2713del p.(Arg830Serfs*14) - in-frame RB1_01469 unknown RB-74 retinoblastoma unknown blood DNA unknown familial Parsam et al. (2011) J Biosci. 2011 Jun;36(2):281-7. 1 - Results in skipping of exons 24, 25 and 26
?/+ g.170374_170377del c.2492_2495del deletion 24_ex - - - frameshift RB1_01238 - 107 bilateral rb germline blood DNA - isolated Sampieri et al. (2006) J Hum Genet 51: 209 1 published -
?/? g.170377delT c.2495delT Substitution 24_ex - p.Leu832X - frameshift RB1_01803 somatic S83095 other cancer somatic tumor DNA unknown unknown COSMIC - COS922 1 published -
+/? - c.2496_2497del Deletion 24_ex - p.Leu832Phefs*5 - frameshift RB1_02000 somatic fam-no_20090132 retinoblastoma somatic blood, tumour DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published -
?/+ g.170379del c.2497del deletion 24_ex - p.Val833Tyrfs*16 - frameshift RB1_00001 unknown RB357 bilateral rb germline retinoblastoma DNA hemi/homozygous isolated Shimizu et al., 1994 1 published -
?/+ g.170380dup c.2498dup insertion 24_ex - p.Ser834Ilsefs*4 - frameshift RB1_00512 unknown not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.170380_170380insT c.2498_2499insT Substitution 24_ex - - - frameshift RB1_01767 somatic ng_un_is_tu_461 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? c.170382_170383insT c.2500_2501insT Insertion 24_ex - - - nonsense RB1_01692 germline ge_uni_iso_tu66 unilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
+/? - c.2501C>A Substitution 24_ex - p.(Ser834*) - nonsense RB1_02038 unknown Tab_1_15 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/+ g.170383C>G c.2501C>G substitution 24_ex - p.Ser834X - nonsense RB1_00483 - RB57 bilateral rb germline blood DNA - familial Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/? g.170383C>G c.2501C>G substitution 24_ex - p.Ser834X - nonsense RB1_00483 somatic NCI-H774 other cancer somatic nd DNA - - COSMIC - COSM23825 1 published -
?/+ g.170383C>T c.2501C>T substitution 24_ex - p.Ser834X - nonsense RB1_00607 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.170384delinsTGTCAATG c.2502delinsTGTCAATG complex 24_ex - p.Ile835Valfs*5 - frameshift RB1_00182 unknown TS71 bilateral rb germline blood DNA not reported isolated Liu et al., 1995 1 published -
?/? g.170391G>T c.2509G>T Substitution 24_ex - p.Glu837X - nonsense RB1_01768 somatic ng_un_is_tu_462 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.170395C>G c.2513C>G substitution 24_ex - p.Ser834X - nonsense RB1_00183 - TS113 rb germline blood DNA not reported familial Liu et al., 1995 1 published -
?/+ g.170395C>G c.2513C>G substitution 24_ex - p.Ser834X - nonsense RB1_00183 - E2306 bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.170397del10 c.2515del10 Deletion 24_ex - - - frameshift RB1_01720 somatic ng_un_is_tu_250 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.170398del c.2516del deletion 24_ex - p.Phe839Serfs*10 - frameshift RB1_00184 unknown E580 unilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/? g.170399C>T c.2517C>T Substitution 24_ex - - - unknown RB1_01824 somatic S83193 other cancer somatic tumor DNA - - COSMIC - COSM924 1 published -
?/? g.170402del c.2520del Deletion 24_ex - p.Thr841Leufs*8 - frameshift RB1_01805 somatic S82864 retinoblastoma somatic tumor DNA - unknown COSMIC - COS906 1 published -
?/? g.170403del c.2520+1del deletion 24_in altered splicing - - splice RB1_00221 - RB-2 bilateral rb somatic retinoblastoma DNA - - Yandell et al., 1989 1 published -
?/? g.170403del c.2520+1del deletion 24_in altered splicing - - splice RB1_00221 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.170403del c.2520+1del deletion 24_in altered splicing - - splice RB1_00221 somatic NCI-H250 other cancer somatic tumor DNA - - COSMIC - COSM34035 1 published -
?/? g.170403G>A c.2520+1G>A substitution 24_in altered splicing - - splice RB1_00750 - Fam430 bilateral rb somatic retinoblastoma DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.170403G>A c.2520+1G>A substitution 24_in altered splicing - - splice RB1_00750 - Rb74 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/? g.170403G>A c.2520+1G>A substitution 24_in altered splicing - - splice RB1_00750 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.170403G>A c.2520+1G>A substitution 24_in altered splicing - - splice RB1_00750 - Fam316 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.170403G>A c.2520+1G>A substitution 24_in altered splicing - - splice RB1_00750 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.170403G>A c.2520+1G>A substitution 24_in altered splicing - - splice RB1_00750 somatic NCI-N417 other cancer somatic tumor DNA - - COSMIC - COSM13739 1 published -
?/? g.170403G>T c.2520+1G>T substitution 24_in altered splicing - - splice RB1_00250 - not provided - - nd DNA - familial Lohmann - Essen 1 unpublished -
3201 - 3300
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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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