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LOVD - Variant listings for RB1

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+?/? g. 1867-1871 delTGACG Deletion - - - - silent RB1_02120 germline KVM60 bilateral rb germline blood DNA unknown isolated Viet Nam:Hanoi 1 unpublished -
?/? g.195insCTGATA c.-1865_1864insCTGATA complex 00_up - variant - variant RB1_00991 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.198del c.-1862del deletion 00_up - variant - variant RB1_00992 - not provided no cancer germline blood DNA - - dbSNP 1 published Originally reported: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409.
?/? g.371C>A c.-1689C>A substitution 00_up - variant - variant RB1_00993 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.605T>C c.-1455T>C substitution 00_up - variant - variant RB1_00994 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.605T>C c.-1455T>C substitution 00_up - variant - variant RB1_00994 germline not provided - unknown blood DNA unknown unknown dbSNP 1 - -
?/? g.914C>T c.-1146C>T substitution 00_up - variant - variant RB1_00995 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.1023G>A c.-1037G>A substitution 00_up - variant - variant RB1_00996 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.1219C>T c.-841C>T substitution 00_up - variant - variant RB1_00997 - not provided no cancer germline blood DNA - - dbSNP 1 published originally reported: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409
?/? g.1282C>T c.-778C>T substitution 00_up - variant - variant RB1_00998 - not provided no cancer germline blood DNA - - dbSNP 1 published originally published: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409.
?/? g.1328A>C c.-732A>C substitution 00_up - variant - variant RB1_00999 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.1409A>G c.-651A>G substitution 00_up - variant - variant RB1_01000 - not provided no cancer germline blood DNA - - dbSNP 1 published originally reported: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409.
?/? g.1565T>C c.-495T>C substitution 00_up - - - - RB1_01350 - not provided unilateral rb germline blood DNA - - - 1 unpublished -
?/? g.1565T>C c.-495T>C substitution 00_up - - - - RB1_01350 - not provided unilateral rb germline blood DNA - familial lp - 1 unpublished -
?/? g.1601C>T c.-459C>T substitution 00_up - variant - variant RB1_01001 - not provided no cancer germline blood DNA - - dbSNP 1 published originally reported by Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409.
?/? g.1718C>T c.-342C>T substitution 00_up - variant - variant RB1_00953 - Fam539 bilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto rs4151418 1 unpublished -
?/? g.1766T>C c.-294T>C Substitution 00_up regulatory - - unknown RB1_01670 germline unilat_fam_29 unilateral rb germline blood DNA - familial not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
-?/? g.1772C>T c.-288C>T Substitution 00_up regulatory - - unknown RB1_01855 unknown family 2136 bilateral rb unknown nd DNA - isolated Gallie:Toronto 1 unpublished -
?/? g.1811_1913del c.-249_147del deletion 00_up - - - - RB1_01304 - tumor 7 other cancer somatic prostate carcinoma cells DNA heterozygous - Bookstein et al., 1990 1 published prostate carcinoma
?/? g.1848G>A c.-212G>A substitution 00_up - - - promoter RB1_00926 - Fam35 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.1854_1871del c.-206_-189del deletion 00_up - - - - RB1_00927 - Fam384 bilateral rb germline nd DNA - not reported Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.1862G>A c.-198G>A substitution 00_up - SP1-recognition - promoter RB1_00018 - family 229 rb germline blood DNA not reported familial lp Sakai et al., 1991 1 published -
?/? g.1862G>A c.-198G>A substitution 00_up - SP1-recognition - promoter RB1_00018 - 3 unilateral rb germline blood DNA not reported isolated Zajaczek et al., 1998 1 published -
?/? g.1862G>A c.-198G>A substitution 00_up - SP1-recognition - promoter RB1_00018 - E635 bilateral rb germline blood DNA unknown familial Lohmann - Essen 1 unpublished -
?/? g.1862G>A c.-198G>A substitution 00_up - SP1-recognition - promoter RB1_00018 - E1696 - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.1862G>A c.-198G>A substitution 00_up - SP1-recognition - promoter RB1_00018 - case 3 unilateral rb germline blood DNA - isolated Zajaczek et al. (1999) Eur J Cancer 35(13):1824 1 published -
?/? g.1863G>A c.-197G>A substitution 00_up - - - promoter RB1_00928 - Fam550 bilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/? g.1863_1864delinsTT c.-197_-196delinsTT complex 00_up - SP1-recogn - promoter RB1_00470 germline E2836 bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.1867T>A c.-193T>A substitution 00_up - promotor - promoter RB1_01326 - F4289 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.1867T>G c.-193T>G substitution 00_up - - - promoter RB1_01294 - F5768 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.1871G>T c.-189G>T substitution 00_up - ATF-recognition - promoter RB1_00017 - family 172 unilateral rb germline blood DNA not reported familial lp Sakai et al., 1991 1 published -
?/? g.1871G>T c.-189G>T substitution 00_up - ATF-recognition - promoter RB1_00017 - Fam36 unilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.1910G>C c.-150G>C substitution 00_up - SP1-recognition - promoter RB1_00022 - family S rb germline blood DNA not reported familial lp Cowell et al., 1996 1 published -
?/? g.2056C>G c.-4C>G substitution 00_up - - - - RB1_01370 - not provided bilateral rb germline blood DNA - isolated Barbosa et al. (2009), BMC Med Genet; 10: 75. 1 published -
?/? g.2060A>G c.1A>G Substitution 01_ex - p.Met1Val Met1Val unknown RB1_01443 - 11 retinoblastoma - blood DNA - familial - 1 unpublished Caucasion patient, Father affected
?/? g.2060A>G c.1A>G Substitution 01_ex - p.Met1Val Met1Val unknown RB1_01443 - 1576 unilateral rb germline blood DNA - - - 1 unpublished No tumor. Destroys translation initiation codon. Unilaterally affected father (proband) and very young son (unknown phenotype) carry mutation in blood
?/? g.2062G>C c.3G>C Substitution 01_ex - p.Met1Ile [Met1Ile] unknown RB1_01455 - nd retinoblastoma - nd DNA - familial low penetrance - 1 - Found in low penetrance rb family: 2 unilateral rb and 4 unaffected carriers
+/+ - c.14_24del Deletion 01_ex - p.Thr5Asnfs*22 - frameshift RB1_01961 germline fam-no_19931734 retinoblastoma germline blood DNA unknown familial Dommering et al. 2014, Germany:Essen 1 published Incomplete penetrance (DER: 1.0)
?/+ g.2077_2095del c.18_36del deletion 01_ex - - - frameshift RB1_00834 - Fam672 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.2078del c.19C>T Substitution 01_ex - p.Arg7X - nonsense RB1_01672 germline ge_uni_iso_tu_2 unilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.2078del c.19del deletion 01_ex - - - frameshift RB1_01208 - SR25 unilateral rb germline blood DNA - isolated Kontic et al. (2006) J Hum Genet 51:909 1 published -
?/? g.2078delCGAinsGG c.19delCGAinsGG Other/Complex 01_ex - - - frameshift RB1_01667 germline unilat_fam_2 unilateral rb germline blood DNA - familial not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.2078dup c.19dup insertion 01_ex - - - frameshift RB1_00449 - Fam393 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.2078dup c.19dup insertion 01_ex - - - frameshift RB1_00449 - not provided - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/+ g.2078dup c.19dup insertion 01_ex - - - frameshift RB1_00449 - not provided bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.2078dup c.19dup insertion 01_ex - - - frameshift RB1_00449 - Fam805 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.2078dup c.19dup insertion 01_ex - - - frameshift RB1_00449 - 11050 bilateral rb unknown nd DNA unknown - Munier - Lausanne 1 - Mutation not found in parents or brother
+/? g.2078dup c.19dup Duplication 01_ex - p.(Arg7Profs*24) - frameshift RB1_00449 germline RB45 unilateral rb germline blood DNA - familial mohdkhairulnizam, Malaysia:Kuala Lumpur 1 published -
?/+ g.2078_2080delinsGG c.19_21delinsGG complex 01_ex - - - frameshift RB1_00839 - Fam462 unilateral rb somatic retinoblastoma DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.2078_2080delinsGG c.19_21delinsGG complex 01_ex - - - frameshift RB1_00839 germline nd no cancer germline blood DNA - - - 1 - Unaffected carrier. Three generations of family have Rb
?/+ g.2079dup c.20dup insertion 01_ex - p.(Thr9Asnfs*22) - frameshift RB1_00340 germline E2335 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.2080dup c.20dup insertion 01_ex - - - frameshift RB1_00849 - Fam728 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.2080insG c.21insG Insertion 01_ex - - - frameshift RB1_01583 germline bilateral_8 bilateral rb germline blood DNA heterozygous isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.2083_2114del c.24_55del deletion 01_ex - - - frameshift RB1_00858 - Fam82 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/-? g.2090_2092dupGCC c.31_33dupGCC Duplication 01_ex - p.Ala11dup Ala11dup unknown RB1_01447 - 1275 unilateral rb - blood DNA - - - 1 unpublished Tumor shows homozygous IVS22+1G>T (c.2325+1G>T), not in blood. Blood has hetero c.31_33dupGCC ; tumor does not
+/+ g.2091_2122del c.32_63del Deletion 01_ex - p.(Ala11Glyfs*9) - frameshift RB1_00724 somatic E5712 unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann, Germany:Essen 1 unpublished -
+/+ g.2091_2122del c.32_63del Deletion 01_ex - p.(Ala11Glyfs*9) - frameshift RB1_00724 germline E3962 bilateral rb germline blood DNA unknown isolated Lohmann, Germany:Essen 1 unpublished -
?/? g.2099dup c.40dup Insertion 1_ex - p.(Ala14Glyfs*17) - frameshift RB1_02017 germline P_20140723_20 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/? g.2101C>T c.42C>T substitution 01_ex - p.Ala14Ala Ala14Ala variant RB1_00023 - GOS19 unilateral rb somatic retinoblastoma DNA - - Hogg et al., 1993 1 published -
?/? g.2101C>T c.42C>T substitution 01_ex - p.Ala14Ala Ala14Ala variant RB1_00023 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.2101C>T c.42C>T substitution 01_ex - p.Ala14Ala Ala14Ala variant RB1_00023 - 156 unilateral rb - blood DNA - - - 1 unpublished Hetero in blood. No tumor available. Previously found by DL in uni proband and father?s blood but not in homozygous tumor; CD found this in two bilateral patients with known null mutations.
?/? g.2101C>T c.42C>T substitution 01_ex - p.Ala14Ala Ala14Ala variant RB1_00023 - nd bilateral rb - nd DNA - familial - 1 - Remarks: see RBWiki
?/? g.2102_2124del c.43_65del deletion 01_ex - - - - RB1_01336 - RB-203/fRB-35 unilateral rb germline blood DNA - familial Sanchez-Sanchez et al. (2007) Hum Mutat 28: 159 1 published -
?/? g.2104ins23 c.45_46ins23 insertion 01_ex - - - - RB1_00864 - Fam362 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
-/- g.2104_2112del c.45_53del deletion 01_ex - p.Ala16_Ala18del [Ala16_Ala18del] in-frame RB1_00957 - Fam436 unilateral rb germline retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
-/- g.2104_2112del c.45_53del deletion 01_ex - p.Ala16_Ala18del Ala16_Ala18del in-frame RB1_00957 - FAM36 unilateral rb - blood DNA unknown familial not reported, BL Gallie - Toronto 1 unpublished The 9bp exon 1 del did not segregate with disease in family
-/- g.2104_2112del c.45_53del deletion 01_ex - p.Ala16_Ala18del Ala16_Ala18del in-frame RB1_00957 - Fam910 unilateral rb germline blood + tumor DNA unknown isolated not reported, BL Gallie - Toronto 1 unpublished Tumor results: Homozy. IVS1+2T>A, Homoz c.45_53del Blood: Het c.45_53del only
?/? g.2104_2112del c.45_53del deletion 01_ex - p.Ala16_Ala18del Ala16_Ala18del in-frame RB1_00957 - Fam1085 unilateral rb - blood DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
-/- g.2104_2112del c.45_53del deletion 01_ex - p.Ala16_Ala18del - in-frame RB1_00957 - Fam1153 unilateral rb - blood DNA - isolated not reported, BL Gallie - Toronto 1 - Tumor did not show the c.45-53del but showed homozygous promoter hypermethylation
-/- g.2104_2112del c.45_53del deletion 01_ex - p.Ala16_Ala18del Ala16_Ala18del in-frame RB1_00957 - Fam1187 unilateral rb - blood + tumor DNA heterozygous isolated not reported, BL Gallie - Toronto 1 unpublished Tumor showed het IVS19-1G>C and het c.1981C>T and het c.45_53del, blood and tumor showed hetero c.45_53del9
?/-? g.2104_2112del c.45_53del deletion 01_ex - p.Ala16_Ala18del Ala16_Ala18del in-frame RB1_00957 - nd unilateral rb - nd DNA - isolated - 1 - Remarks. see RBWiki
?/+ g.2104_2129del c.45_70del deletion 01_ex - p.Glu19Profs*3 - frameshift RB1_00318 germline E2076 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.2104_2032del c.45_73del Deletion 1_ex - p.(Ala18Profs*3) - unknown RB1_02019 germline P_20140723_27 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
+/+ g.2104_2135del c.45_76del Deletion 01_ex - p.Ala17Profs*3 - frameshift RB1_01409 unknown E5365 unilateral rb germline blood DNA heterozygous isolated Lohmann, Germany:Essen 1 unpublished -
?/+ g.2104_2138dup c.45_78dup insertion 01_ex - p.Pro27Cysfs*15 - frameshift RB1_01324 unknown F3148 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/+ g.2104_2139del c.45_79del deletion 01_ex - - - frameshift RB1_00422 germline E2882 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.2104_2139del c.45_79del deletion 01_ex - - - frameshift RB1_00422 somatic LB647-SCLC - somatic nd DNA - - COSMIC - COSM29200 1 - -
?/? g.2104_2038dup c.45_79dup Insertion 1_ex - p.(Pro27Leufs*50) - unknown RB1_02018 germline P_20140723_22 unilateral rb germline blood DNA unknown familial Houdayer - Paris 1 unpublished -
+/? - c.46_65dup Duplication 01_ex - p.Pro25Argfs*47 - frameshift RB1_01962 germline fam-no_20011821 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published -
?/+ g.2106_2125del c.47_66del deletion 01_ex - - - frameshift RB1_00563 - not provided unilateral rb somatic retinoblastoma DNA - - Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
-?/- g.2111_2139dup c.52_80dup Duplication 01_ex - - - unknown RB1_01775 germline ge_un_is_notu3 no cancer germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
+/+ g.2113_2135del c.54_76del Deletion 01_ex - p.(Glu19Alafs*4) - frameshift RB1_01858 somatic E5961 unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann, Germany:Essen 1 unpublished -
?/? g.2113_2135dup c.54_76dup Insertion 1_ex - p.(Pro26Argfs*47) - unknown RB1_02020 germline P_20140723_33 unilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.2113_2138del c.54_79del deletion 01_ex - p.(Glu19Profs*3) - frameshift RB1_00360 germline E2147 unilateral rb germline nd DNA heterozygous familial Lohmann - Essen 1 unpublished -
?/+ g.2114del c.55del deletion 01_ex - p.Glu19Asnfs*46 - frameshift RB1_01209 unknown F5701 rb germline blood DNA - familial lp Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.2117delC c.58delC Deletion 01_ex - - - frameshift RB1_01666 germline unilat_fam_1 unilateral rb germline blood DNA - familial not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.2118C>T c.59C>T substitution 01_ex - p.Pro20Leu Pro20Leu missense RB1_00493 - not provided unilateral rb germline blood DNA - isolated Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.2118C>T c.59C>T substitution 01_ex - p.Pro20Leu Pro20Leu missense RB1_00493 - 2u unilateral rb germline blood DNA - familial lp Brichard et al. 2006,Eur J Cancer. 2006 Jan;42(1):65-72 1 published -
?/? g.2118C>T c.59C>T substitution 01_ex - p.Pro20Leu Pro20Leu missense RB1_00493 - BG#519 (619) unilateral rb - nd DNA - isolated Richter et al. (2003) Am J Hum Genet. 2003 Feb; 72(2): 253-69 1 published Tumor w/ het c.2536insC, het. promoter methyl + het Pro20Leu, blood only Pro20Leu
?/? g.2118_2130del c.59_71del Deletion 01_ex - - - unknown RB1_01587 germline bilateral_16 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished unaff father carries mut
?/? g.2120_2133 c.61_74del Deletion 01_ex - p.Pro21Alafs*5 - frameshift RB1_01518 somatic CAL-85-1 - somatic nd DNA - - COSMIC - COSM27171 1 - -
?/+ g.2121del c.62del deletion 01_ex - p.Pro21Argfs*43 - frameshift RB1_00646 unknown Fam228 unilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.2121del c.62del deletion 01_ex - p.Pro21Argfs*43 - frameshift RB1_00646 unknown 12 unilateral rb germline blood DNA - familial Sampieri et al. (2006) J Hum Genet 51: 209 1 published -
+/? - c.62dup Duplication 01_ex - p.Ala22Glyfs*9 - frameshift RB1_01963 germline fam-no_20061482 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published Previously reported in Dommering et al. 2012
?/? g.2121_2122insG c.64dup Insertion/Deletion 01_ex - p.Ala22Glyfs*9 - unknown RB1_01517 unknown rs34437965 - - nd DNA - - dbSNP 1 - -
?/? g.2124C>A c.65C>A substitution 01_ex - p.Ala22Glu Ala22Glu unknown RB1_01377 - not provided bilateral rb - retinoblastoma DNA heterozygous - - 1 unpublished -
?/+ g.2124del c.65del deletion 01_ex - p.Ala22Aspfs*43 - frameshift RB1_01362 unknown RB-68 bilateral rb germline blood DNA - - - 1 published -
?/+ g.2124delinsGA c.65delinsGA complex 01_ex - - - nonsense RB1_00463 germline E3372 bilateral rb germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/? g.2124_2125delins20 c.65_66ins20 Other/Complex 01_ex - - - unknown RB1_01586 germline bilateral_14 bilateral rb germline blood DNA - familial not reported - Diana Rushlow, Gallie:Toronto 1 unpublished 2 bros affected, unaff parents not tested
?/+ g.2126_2163del c.67_104del deletion 01_ex - - - frameshift RB1_00448 germline E609 bilateral rb germline nd DNA hemi/homozygous familial Lohmann - Essen 1 unpublished -
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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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