Unique variants in gene RB1

Information The variants shown are described using the NM_000321.2 transcript reference sequence.

1738 entries on 18 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/? 1 15 c.1422-1? VUS r.(?) p.? g.48954300? - - - RB1_001536 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 17i c.1695+82? VUS r.(?) p.(=) g.48955661? - 1695+82 - RB1_001065 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 21 c.2170? VUS r.(?) p.? g.49037930? - - - RB1_001503 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.-1863_-1862insGATACT VUS r.spl p.? g.48876186_48876187insGATACT - -1865_-1864insCTGATA - RB1_000991 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.-1861del VUS r.(=) p.(=) g.48876188del - -1862del - RB1_000992 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.-495T>C VUS r.(=) p.(=) g.48877554T>C - - - RB1_001350 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.-459C>T VUS r.(=) p.(=) g.48877590C>T - - - RB1_001001 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.-342C>T VUS r.(=) p.(=) g.48877707C>T - - - RB1_000953 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.-294T>C VUS r.(=) p.(=) g.48877755T>C - regulatory - RB1_001670 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.-288C>T VUS r.(=) p.(=) g.48877761C>T - regulatory - RB1_001855 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.-249_-147del VUS r.0? p.0? g.48877800_48877902del - -249_147del - RB1_001304 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/. 1 _1 c.-235G>A pathogenic r.(=) p.(=) g.48877814G>A - g.1825 G>A - RB1_002143 - - - - Germline - - - - - Rossukon Kaewkhaw
?/? 1 _1 c.-212G>A VUS r.(=) p.(=) g.48877837G>A - - - RB1_000926 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.-206_-189del VUS r.(=) p.(=) g.48877843_48877860del - - - RB1_000927 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.-198G>A VUS r.(=) p.(=) g.48877851G>A - - - RB1_000018 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.-198G>T VUS r.(=) p.(=) g.48877851G>T - - - RB1_001877 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/., ?/? 2 _1 c.-197G>A pathogenic, VUS r.(?), r.(=) p.(=) g.48877852G>A - RB1(NM_000321.2):c.-197G>A - RB1_000928 VKGL data sharing initiative Nederland data copied from the RB1-LSDB - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL, Dietmar Lohmann
?/? 1 _1 c.-197_-196delinsTT VUS r.(=) p.(=) g.48877852_48877853delinsTT - - - RB1_000470 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.-193T>A VUS r.(=) p.(=) g.48877856T>A - - - RB1_001326 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.-193T>G VUS r.(=) p.(=) g.48877856T>G - - - RB1_001294 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.-192G>A VUS r.(=) p.(=) g.48877857G>A - - - RB1_001534 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.-189G>T VUS r.(=) p.(=) g.48877860G>T - - - RB1_000017 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.? VUS r.(=) p.(=) g.48876360? - -1689C>A - RB1_000993 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.? VUS r.(=) p.(=) g.48876594? - -1455T>C - RB1_000994 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.? VUS r.(=) p.(=) g.48876903? - -1146C>T - RB1_000995 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.? VUS r.(=) p.(=) g.48877012? - -1037G>A - RB1_000996 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.? VUS r.(=) p.(=) g.48877208? - -841C>T - RB1_000997 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.? VUS r.(=) p.(=) g.48877271? - -778C>T - RB1_000998 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.? VUS r.(=) p.(=) g.48877317? - -732A>C - RB1_000999 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.? VUS r.(=) p.(=) g.48877398? - -651A>G - RB1_001000 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 _1 c.-150G>C VUS r.(=) p.(=) g.48877899G>C - - - RB1_000022 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.-4C>G VUS r.(?) p.(=) g.48878045C>G - - - RB1_001370 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.1A>G VUS r.(?) p.0? g.48878049A>G - p.Met1Val - RB1_001443 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.3G>C VUS r.(?) p.0? g.48878051G>C - p.Met1Ile - RB1_001455 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.14_24del pathogenic r.(?) p.(Thr5Asnfs*22) g.48878062_48878072del - - - RB1_001961 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.18_36del pathogenic r.(?) p.(Arg7Profs*52) g.48878066_48878084del - - - RB1_000834 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.19C>T VUS r.(?) p.(Arg7*) g.48878067C>T - - - RB1_001672 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.19del pathogenic r.(?) p.(Arg7Glufs*58) g.48878067del - - - RB1_001208 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.19dup pathogenic r.(?) p.(Arg7Profs*24) g.48878067dup - - - RB1_000449 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.19_21delinsGG VUS r.(?) p.(Arg7Glyfs*58) g.48878067_48878069delinsGG - 19delCGAinsGG - RB1_000839 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.20dup pathogenic r.(?) p.(Thr9Asnfs*22) g.48878068dup - 21insG - RB1_000340 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.27_58del pathogenic r.(?) p.(Ala10Profs*10) g.48878075_48878106del - 24_55del - RB1_000858 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
-?/-? 1 1 c.31_33dup likely benign r.(?) p.(Ala11dup) g.48878079_48878081dup - 31_33dupGCC - RB1_001447 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.32_63del pathogenic r.(?) p.(Ala11Glyfs*9) g.48878080_48878111del - - - RB1_000724 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/. 1 - c.34_74del - r.(?) p.(Thr12Alafs*5) g.48878082_48878122del - 34_74del41 - RB1_002136 - - - - Germline - - - - - Gemeinschaftspraxis für Humangenetik Dresden
?/? 1 1 c.40dup VUS r.(?) p.(Ala14Glyfs*17) g.48878088dup - - - RB1_002017 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
-?/., ?/? 3 1 c.42C>T likely benign, VUS r.(?) p.(=) g.48878090C>T - RB1(NM_000321.2):c.42C>T (p.A14=) - RB1_000023 VKGL data sharing initiative Nederland data copied from the RB1-LSDB - - CLASSIFICATION record, SUMMARY record - - - - - VKGL-NL_Rotterdam, Dietmar Lohmann, VKGL-NL_VUmc
?/? 1 1 c.43_65del VUS r.(?) p.(Ala15Thrfs*8) g.48878091_48878113del - - - RB1_001336 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 - c.45_46ins(23) VUS r.(?) p.? g.48878093_48878094ins(23) - 45_46ins23 - RB1_000864 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
-?/-?, -?/. 2 1 c.45_53del likely benign r.(?) p.(Ala16_Ala18del) g.48878093_48878101del - RB1(NM_000321.2):c.37_45del (p.(Ala16_Ala18del)) - RB1_000957 VKGL data sharing initiative Nederland data copied from the RB1-LSDB - - SUMMARY record, CLASSIFICATION record - - - - - Dietmar Lohmann, VKGL-NL
+/+ 1 1 c.45_70del pathogenic r.(?) p.(Glu19Profs*3) g.48878093_48878118del - - - RB1_000318 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.45_73del VUS r.(?) p.(Ala18Profs*3) g.48878093_48878121del - - - RB1_002019 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.45_76del pathogenic r.(?) p.(Ala17Profs*3) g.48878093_48878124del - - - RB1_001409 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.45_78dup pathogenic r.(?) p.(Pro27Cysfs*15) g.48878093_48878126dup - - - RB1_001324 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.45_79del VUS r.(?) p.(Ala16Profs*3) g.48878093_48878127del - - - RB1_000422 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.45_79dup VUS r.(?) p.(Pro27Leufs*50) g.48878093_48878127dup - - - RB1_002018 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.46_65dup VUS r.(?) p.(Pro25Argfs*47) g.48878094_48878113dup - - - RB1_001962 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
-/- 1 1 c.52_80dup benign r.(?) p.(Pro28Argfs*47) g.48878100_48878128dup - - - RB1_001775 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.54_73del pathogenic r.(?) p.(Glu19Alafs*5) g.48878102_48878121del - 47_66del - RB1_000563 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.54_76del pathogenic r.(?) p.(Glu19Alafs*4) g.48878102_48878124del - - - RB1_001858 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.54_76dup VUS r.(?) p.(Pro26Argfs*47) g.48878102_48878124dup - - - RB1_002020 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.54_79del pathogenic r.(?) p.(Glu19Profs*3) g.48878102_48878127del - - - RB1_000360 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.55del pathogenic r.(?) p.(Glu19Asnfs*46) g.48878103del - - - RB1_001209 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.59C>T VUS r.(?) p.(Pro20Leu) g.48878107C>T - - - RB1_000493 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.59_71del VUS r.(?) p.(Pro20Argfs*41) g.48878107_48878119del - - - RB1_001587 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.61_74del VUS r.(?) p.(Pro21Alafs*5) g.48878109_48878122del - - - RB1_001518 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.62del pathogenic r.(?) p.(Pro21Argfs*44) g.48878110del - 58delC - RB1_000646 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.62dup VUS r.(?) p.(Ala22Glyfs*9) g.48878110dup - - - RB1_001963 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.64dup VUS r.(?) p.(Ala22Glyfs*9) g.48878112dup - - - RB1_001517 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.65C>A VUS r.(?) p.(Ala22Glu) g.48878113C>A - - - RB1_001377 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.65del pathogenic r.(?) p.(Ala22Aspfs*43) g.48878113del - - - RB1_001362 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.65delinsGA pathogenic r.(?) p.(Ala22Glyfs*9) g.48878113delinsGA - - - RB1_000463 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 - c.65_66ins(20) VUS r.(?) p.? g.48878113_48878114ins(20) - 65_66ins20 - RB1_001586 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.67_104del pathogenic r.(?) p.(Pro23Glyfs*13) g.48878115_48878152del - - - RB1_000448 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
-?/-? 1 1 c.68C>T likely benign r.(?) p.(Pro23Leu) g.48878116C>T - - - RB1_001456 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.72_78del pathogenic r.(?) p.(Pro26Leufs*37) g.48878120_48878126del - - - RB1_000024 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.75_80del VUS r.(?) p.(Pro28_Pro29del) g.48878123_48878128del - 68_73del - RB1_000621 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 - c.78_79ins(23) VUS r.(?) p.? g.48878126_48878127ins(23) - 78_79ins23 - RB1_001673 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
-?/-? 1 1 c.78_80del likely benign r.(?) p.(Pro29del) g.48878126_48878128del - - - RB1_001448 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/. 1 1 c.83C>G pathogenic r.(?) p.(Pro28Arg) g.48878131C>G - g.2142 C>G - RB1_002147 - - - - Germline - - - - - Rossukon Kaewkhaw
?/? 1 1 c.83del VUS r.(?) p.(Pro28Leufs*37) g.48878131del - - - RB1_001210 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.83dup VUS r.(?) p.(Pro29Serfs*2) g.48878131dup - 83dupC - RB1_001584 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.84dup pathogenic r.(?) p.(Pro29Serfs*2) g.48878132dup - - - RB1_000648 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.88G>T pathogenic r.(?) p.(Glu30*) g.48878136G>T - - - RB1_000025 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.89del VUS r.(?) p.(Glu30Glyfs*35) g.48878137del - 89delA - RB1_001671 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.91G>T VUS r.(?) p.(Glu31*) g.48878139G>T - - - RB1_001492 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/. 1 1 c.92_93del pathogenic r.(?) p.(Glu31Glyfs*17) g.48878140_48878141del - g.2151_2152 del - RB1_002145 - - - - Germline - - - - - Rossukon Kaewkhaw
?/? 1 1 c.98dup VUS r.(?) p.(Glu34Argfs*15) g.48878146dup - - - RB1_001201 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 - c.100G>T pathogenic r.(?) p.(Glu34*) g.48878148G>T - - - RB1_001411 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.103C>T pathogenic r.(?) p.(Gln35*) g.48878151C>T - - - RB1_000319 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.109_112delinsCCAGA VUS r.(?) p.(Ser37Profs*12) g.48878157_48878160delinsCCAGA - - - RB1_001585 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.109_116del pathogenic r.(?) p.(Ser37Glyfs*9) g.48878157_48878164del - - - RB1_000799 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.110dup pathogenic r.(?) p.(Ser37Argfs*12) g.48878158dup - - - RB1_000492 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.116del VUS r.(?) p.(Pro39Argfs*26) g.48878164del - 115delC - RB1_001460 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.118G>T pathogenic r.(?) p.(Glu40*) g.48878166G>T - - - RB1_001141 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.120_124dup pathogenic r.(?) p.(Leu42Argfs*25) g.48878168_48878172dup - 125insGGACC - RB1_001202 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.121_122ins(10) VUS r.(?) p.? g.48878169_48878170ins(10) - 122ins10 - RB1_001712 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.123_136delinsGCC VUS r.(?) p.(Asp41Glufs*4) g.48878171_48878184delinsGCC - - - RB1_002021 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
?/? 1 1 c.124del VUS r.(?) p.(Leu42Cysfs*23) g.48878172del - - - RB1_001520 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
+/+ 1 1 c.128dup pathogenic r.(?) p.(Leu44Serfs*5) g.48878176dup - - - RB1_000490 - data copied from the RB1-LSDB - - SUMMARY record - - - - - Dietmar Lohmann
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