RB1 — 4225 ClinVar variants

All ClinVar germline RB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1552 flagged for review →

689 Pathogenic · 61 Pathogenic/Likely pathogenic · 97 Likely pathogenic · 256 Conflicting · 120 Benign · 199 Benign/Likely benign · 1044 Likely benign · 1759 Uncertain significance

Full RB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1552

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 13

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

RB1 p.Arg46Lys Pathogenic Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asp286Gly Pathogenic/Likely pathogenic Multiple submitters
hereditary neoplastic syndrome
RB1 p.Lys530Arg Pathogenic/Likely pathogenic Multiple submitters
retinoblastoma
RB1 p.Ser127Asn Pathogenic/Likely pathogenic Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ser127Thr Pathogenic/Likely pathogenic Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ser888Asn Pathogenic/Likely pathogenic Multiple submitters
retinoblastoma
RB1 p.Gln444Arg Likely pathogenic Single submitter
RB1-related disorder
RB1 p.Gln444Leu Likely pathogenic Single submitter
retinoblastoma
RB1 p.Glu313Asp Likely pathogenic Single submitter
RB1-related disorder
RB1 p.Glu737Asp Pathogenic Single submitter
RB1-related disorder
RB1 p.Leu220Val Pathogenic Single submitter
RB1 p.Ser888Thr Likely pathogenic Single submitter
retinoblastoma
RB1 p.His733Tyr Pathogenic No assertion criteria
retinoblastoma

Predictors agree, ClinVar conflicts 141

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

RB1 p.Ala188Thr Conflicting Single submitter
retinoblastoma
RB1 p.Ala22Pro Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ala261Val Conflicting Single submitter
retinoblastoma
RB1 p.Ala392Thr Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ala488Val Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ala496Ser Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ala589Gly Conflicting Single submitter
retinoblastoma
RB1 p.Ala589Val Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ala628Ser Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ala628Val Conflicting Single submitter
retinoblastoma
RB1 p.Ala632Glu Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ala885Thr Conflicting Single submitter
retinoblastoma
RB1 p.Arg262Trp Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Arg358Gln Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Arg46Thr Conflicting Single submitter
retinoblastoma
RB1 p.Arg552Gln Conflicting Single submitter
retinoblastoma
RB1 p.Arg556Gln Conflicting Single submitter
retinoblastoma
RB1 p.Arg579Gln Conflicting Single submitter
retinoblastoma
RB1 p.Arg621Cys Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Arg621His Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Arg621Ser Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Arg661Pro Conflicting Single submitter
retinoblastoma
RB1 p.Arg668His Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Arg698Ser Conflicting Single submitter
retinoblastoma
RB1 p.Arg698Thr Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Arg73Thr Conflicting Single submitter
urinary bladder cancer
RB1 p.Arg741Cys Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Arg741His Conflicting Single submitter
retinoblastoma
RB1 p.Arg787Gln Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Arg830Lys Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Arg857Cys Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Arg857Gly Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Arg857His Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Arg910Gln Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Asn123Asp Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Asn133His Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Asn146His Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Asn247Asp Conflicting Single submitter
RB1-related disorder
RB1 p.Asn269Ser Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Asn284Asp Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Asn309Asp Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Asn316Ser Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Asn361Lys Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Asn380Ser Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Asn522Asp Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Asn663Ser Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Asn917Ser Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Asp156Tyr Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Asp507His Conflicting Single submitter
ovarian cancer
RB1 p.Asp856Asn Conflicting Single submitter
hereditary retinoblastoma
RB1 p.Asp856Glu Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Cys489Tyr Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Gln35Leu Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Gln631Lys Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Gln898His Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Glu170Gly Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Glu184Asp Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Glu204Lys Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Glu30Ala Conflicting Single submitter
retinoblastoma
RB1 p.Glu365Asp Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Glu365Gln Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Glu50Asp Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Glu50Gln Conflicting Single submitter
retinoblastoma
RB1 p.Glu54Gly Conflicting Single submitter
retinoblastoma
RB1 p.Glu672Asp Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Glu72Gly Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Glu79Gln Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Gly90Val Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ile124Val Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ile181Leu Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ile181Val Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ile244Thr Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ile348Thr Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ile348Val Conflicting Single submitter
retinoblastoma
RB1 p.Ile425Thr Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ile470Met Conflicting Single submitter
urinary bladder cancer
RB1 p.Ile470Val Conflicting Single submitter
urinary bladder cancer
RB1 p.Ile680Val Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ile782Val Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ile799Met Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ile831Val Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Leu174Val Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Leu362Phe Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Leu642Val Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Leu859Ile Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Lys136Asn Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Lys153Asn Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Lys420Glu Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Lys432Glu Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Lys745Arg Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Lys791Arg Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Lys80Asn Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Lys80Glu Conflicting Single submitter
retinoblastoma
RB1 p.Lys925Arg Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Met113Ile Conflicting Single submitter
retinoblastoma
RB1 p.Met148Val Conflicting Single submitter
retinoblastoma
RB1 p.Met233Val Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Met460Val Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Met920Thr Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Met920Val Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Phe132Tyr Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Phe159Cys Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Phe159Leu Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Pro20Leu Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Pro21Leu Conflicting Single submitter
retinoblastoma
RB1 p.Pro232Ser Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Pro25Leu Conflicting Single submitter
retinoblastoma
RB1 p.Pro28Arg Conflicting Single submitter
retinoblastoma
RB1 p.Pro28Leu Conflicting Single submitter
retinoblastoma
RB1 p.Pro370Ser Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Pro39Leu Conflicting Single submitter
retinoblastoma
RB1 p.Pro55Thr Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Pro6Leu Conflicting Single submitter
urinary bladder cancer
RB1 p.Pro6Ser Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Pro786Ser Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Pro793Ser Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Pro822Ala Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Pro892Ser Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ser149Leu Conflicting Single submitter
retinoblastoma
RB1 p.Ser178Asn Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ser179Ile Conflicting Single submitter
retinoblastoma
RB1 p.Ser180Leu Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ser187Phe Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ser347Pro Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ser37Gly Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ser393Asn Conflicting Single submitter
retinoblastoma
RB1 p.Ser499Asn Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ser499Thr Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ser794Thr Conflicting Single submitter
retinoblastoma
RB1 p.Ser811Asn Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ser811Gly Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ser811Thr Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Ser82Leu Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Thr12Ala Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Thr502Ile Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Thr620Met Conflicting Single submitter
retinoblastoma
RB1 p.Thr778Ala Conflicting Single submitter
urinary bladder cancer
RB1 p.Val193Leu Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Val205Ile Conflicting Single submitter
retinoblastoma
RB1 p.Val306Ile Conflicting Single submitter
hereditary neoplastic syndrome
RB1 p.Val87Ile Conflicting Single submitter
retinoblastoma

Predicted LoF vs a conflicting call 6

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

RB1 c.2106+2T>C Conflicting Single submitter
retinoblastoma
RB1 c.264+2T>C Conflicting Single submitter
hereditary neoplastic syndrome
RB1 c.501-2A>G Conflicting Single submitter
hereditary neoplastic syndrome
RB1 c.539+1G>C Conflicting Single submitter
retinoblastoma
RB1 c.608-2del Conflicting Single submitter
retinoblastoma
RB1 p.Asn290fs Conflicting Single submitter
retinoblastoma

Predictors lean, ClinVar uncertain 988

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 988

RB1 p.Ala106Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ala11Gly Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Ala11Thr Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Ala11Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ala160Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ala17Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ala17Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ala17Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ala18Thr Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Ala242Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ala264Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ala431Thr Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Ala433Thr Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Ala488Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ala490Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ala496Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ala589Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ala59Thr Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Ala628Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ala632Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ala635Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ala635Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ala74Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ala863Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ala902Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg167Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg259Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg262Gln Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Arg320Leu Uncertain significance Multiple submitters
urinary bladder cancer
RB1 p.Arg376Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg445Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg467Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg552Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg556Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg611Lys Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Arg661Gln Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Arg668Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg71Lys Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Arg73Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg763Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg775Lys Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Arg787Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg7Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg857Leu Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Asn247Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asn258Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asn269Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asn295Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asn309Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asn328His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asn328Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asn399Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asn410Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asn410Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asn478Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asn480Ser Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Asn505Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asn522His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asn593Lys Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Asn593Ser Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Asn599Lys Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Asn599Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asp111Asn Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Asp156Gly Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Asp156His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asp270Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asp270Tyr Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Asp270Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asp32Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asp32His Uncertain significance Multiple submitters
urinary bladder cancer
RB1 p.Asp338Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asp346Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asp346Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asp41Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asp41His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asp41Tyr Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Asp479Gly Uncertain significance Multiple submitters
urinary bladder cancer
RB1 p.Asp511His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asp578Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asp68Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asp730Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asp730His Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Asp921Asn Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Cys169Tyr Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Cys489Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Cys489Trp Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Cys553Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Cys590Gly Uncertain significance Multiple submitters
urinary bladder cancer
RB1 p.Cys666Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Cys666Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Cys853Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Cys853Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Cys853Tyr Uncertain significance Multiple submitters
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)
RB1 p.Gln257Arg Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Gln266Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gln266Lys Uncertain significance Multiple submitters
urinary bladder cancer
RB1 p.Gln354Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gln35Glu Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Gln444Lys Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Gln471Arg Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Gln597Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gln597Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gln62Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gln631Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gln639Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gln689Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gln912Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu112Lys Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Glu119Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu119Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu125Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu166Gln Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Glu204Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu280Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu30Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu323Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu352Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu40Lys Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Glu413Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu458Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu48Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu492Lys Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Glu51Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu533Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu533Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu533Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu53Ala Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Glu554Gly Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Glu629Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu675Asp Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Glu677Lys Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Glu746Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu747Lys Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Glu748Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu926Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu926Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu927Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu927Gln Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Glu97Gln Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Gly100Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gly203Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gly38Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gly437Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gly437Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gly540Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gly540Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gly581Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gly617Arg Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Gly840Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gly893Val Uncertain significance Multiple submitters
bone osteosarcoma

Predictors split 404

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 404

RB1 p.Ala242Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ala333Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ala525Gly Benign/Likely benign Multiple submitters
hereditary retinoblastoma
RB1 p.Ala602Glu Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Ala603Thr Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Ala74Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg167Ser Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Arg251Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg254Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg255Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg259Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg259Thr Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Arg272Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg418Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg451His Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Arg467Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg611Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Arg71Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asn390His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asn767Asp Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Asp394Asn Benign/Likely benign Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asp511Gly Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Asp527Glu Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Asp571Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Asp604Asn Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Asp604Gly Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Asp718Glu Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Asp856Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Cys169Arg Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Cys283Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Cys438Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Cys438Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Cys666Arg Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Cys712Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gln736Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gln762Lys Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Glu287Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu322Lys Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Glu413Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu428Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Glu465Lys Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Glu539Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gly203Arg Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Gly203Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gly256Arg Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Gly442Ala Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Gly818Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gly881Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Gly881Arg Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Gly887Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.His555Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.His673Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.His686Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ile172Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ile415Leu Likely benign Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ile470Ser Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Ile557Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ile752Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ile752Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ile782Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ile799Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ile835Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Leu235Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Leu267Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Leu305Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Leu452Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Leu468Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Leu649Val Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Leu665Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Leu676Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Leu743Phe Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Leu764Val Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Leu769Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Leu809Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Lys240Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Lys289Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Lys722Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Lys729Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Lys729Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Lys745Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Lys765Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Lys814Asn Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Lys847Glu Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Lys8Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Lys8Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Met219Ile Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Met457Ile Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Met460Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Met495Ile Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Met605Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Met695Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Met708Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Met708Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Met761Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Met761Leu Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Met761Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Met825Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Met825Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Met851Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Met851Thr Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Met904Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Phe115Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Phe117Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Phe131Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Phe299Leu Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Phe336Cys Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Phe839Leu Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Pro231Leu Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Pro298Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Pro298Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Pro609Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Pro6His Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Pro783Ser Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Pro786His Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Pro789His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Pro789Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Pro796Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Pro796Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ser187Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ser302Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ser302Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ser397Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Ser459Phe Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Ser485Cys Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Ser565Pro Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Ser608Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Thr241Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Thr373Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Thr381Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Thr408Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Thr408Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Thr601Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Thr687Ala Uncertain significance Multiple submitters
urinary bladder cancer
RB1 p.Thr766Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Thr9Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Trp75Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Trp99Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Tyr155Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Tyr321Cys Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Tyr321His Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Tyr325Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Tyr403Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Tyr446His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Tyr606His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Tyr655His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Tyr749Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Val288Met Uncertain significance Multiple submitters
retinoblastoma
RB1 p.Val375Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Val520Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
RB1 p.Val520Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome

All RB1 variants

Pathogenic 689

Showing the top 300 by review status; the full set is in the sitemap.

c.1128-1G>A Multiple submitters hereditary retinoblastoma
c.1128-2A>G Multiple submitters retinoblastoma
c.1215+1G>A Multiple submitters hereditary retinoblastoma
c.1215+1G>C Multiple submitters hereditary neoplastic syndrome
c.1215+2T>G Multiple submitters hereditary neoplastic syndrome
c.1216-2A>G Multiple submitters retinoblastoma
c.1332+1G>A Multiple submitters retinoblastoma
c.1333-1G>A Multiple submitters hereditary neoplastic syndrome
c.1333-2A>G Multiple submitters retinoblastoma
c.137+1G>A Multiple submitters retinoblastoma
c.137+1G>C Multiple submitters retinoblastoma
c.138-1G>A Multiple submitters hereditary neoplastic syndrome
c.138-2A>G Multiple submitters retinoblastoma
c.1389+1G>A Multiple submitters hereditary neoplastic syndrome
c.1389+1G>C Multiple submitters retinoblastoma
c.1389+1G>T Multiple submitters retinoblastoma
c.1389+2T>C Multiple submitters retinoblastoma
c.1389+5G>A Multiple submitters hereditary neoplastic syndrome
c.1421+1G>A Multiple submitters retinoblastoma
c.1422-1G>A Multiple submitters retinoblastoma
c.1422-2A>G Multiple submitters retinoblastoma
c.1695+2T>G Multiple submitters retinoblastoma
c.1695+30914_1695+30917dup Multiple submitters wooly hair, autosomal recessive 3
c.1696-1G>A Multiple submitters retinoblastoma
c.1814+1G>A Multiple submitters hereditary neoplastic syndrome
c.1814+3A>C Multiple submitters retinoblastoma
c.1960+1G>C Multiple submitters hereditary neoplastic syndrome
c.1960+5G>C Multiple submitters hereditary neoplastic syndrome
c.1961-1G>T Multiple submitters retinoblastoma
c.1961-2A>G Multiple submitters retinoblastoma
c.2211+1G>A Multiple submitters retinoblastoma
c.2211+1G>T Multiple submitters hereditary neoplastic syndrome
c.2211+5G>A Multiple submitters retinoblastoma
c.2212-1_2214del Multiple submitters retinoblastoma
c.2325+1G>A Multiple submitters retinoblastoma
c.2325+1G>T Multiple submitters retinoblastoma
c.2326-1del Multiple submitters retinoblastoma
c.2326-1G>A Multiple submitters retinoblastoma
c.2489+1G>A Multiple submitters hereditary neoplastic syndrome
c.2489+1G>C Multiple submitters hereditary neoplastic syndrome
c.2489+1G>T Multiple submitters retinoblastoma
c.2520+1del Multiple submitters hereditary neoplastic syndrome
c.2520+1G>A Multiple submitters hereditary neoplastic syndrome
c.2520+1G>T Multiple submitters hereditary neoplastic syndrome
c.264+1G>A Multiple submitters retinoblastoma
c.264+1G>C Multiple submitters retinoblastoma
c.2663+1G>A Multiple submitters retinoblastoma
c.380+1G>A Multiple submitters hereditary neoplastic syndrome
c.381-2A>G Multiple submitters hereditary retinoblastoma
c.500+1G>T Multiple submitters retinoblastoma
c.540-1G>A Multiple submitters retinoblastoma
c.540-1G>C Multiple submitters hereditary neoplastic syndrome
c.607+1G>A Multiple submitters hereditary retinoblastoma
c.607+1G>T Multiple submitters hereditary retinoblastoma
c.607+2dup Multiple submitters retinoblastoma
c.607+2T>G Multiple submitters retinoblastoma
c.608-1G>A Multiple submitters retinoblastoma
c.610del Multiple submitters retinoblastoma
c.719-9C>G Multiple submitters retinoblastoma
c.861+1G>A Multiple submitters retinoblastoma
c.861+1G>T Multiple submitters retinoblastoma
c.862-2A>G Multiple submitters retinoblastoma
c.940-1G>A Multiple submitters retinoblastoma
p.Ala13fs Multiple submitters hereditary retinoblastoma
p.Ala15fs Multiple submitters hereditary neoplastic syndrome
p.Ala16fs Multiple submitters hereditary neoplastic syndrome
p.Ala22fs Multiple submitters retinoblastoma
p.Arg251Ter Multiple submitters hereditary retinoblastoma
p.Arg255Ter Multiple submitters hereditary retinoblastoma
p.Arg320_Tyr321insTer Multiple submitters retinoblastoma
p.Arg320Ter Multiple submitters hereditary retinoblastoma
p.Arg355fs Multiple submitters hereditary retinoblastoma
p.Arg358Ter Multiple submitters RB1-related disorder
p.Arg445Ter Multiple submitters hereditary retinoblastoma
p.Arg455Ter Multiple submitters hereditary retinoblastoma
p.Arg467Ter Multiple submitters retinoblastoma
p.Arg46Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg544fs Multiple submitters RB1-related disorder
p.Arg552Ter Multiple submitters hereditary neoplastic syndrome
p.Arg556Ter Multiple submitters hereditary neoplastic syndrome
p.Arg579Ter Multiple submitters hereditary retinoblastoma
p.Arg661Trp Multiple submitters hereditary retinoblastoma
p.Arg698fs Multiple submitters retinoblastoma
p.Arg787Ter Multiple submitters hereditary retinoblastoma
p.Arg7fs Multiple submitters hereditary neoplastic syndrome
p.Asn133Ter Multiple submitters retinoblastoma
p.Asn480del Multiple submitters hereditary neoplastic syndrome
p.Asp511fs Multiple submitters retinoblastoma
p.Cys102Ter Multiple submitters retinoblastoma
p.Cys590fs Multiple submitters retinoblastoma
p.Gln121fs Multiple submitters hereditary neoplastic syndrome
p.Gln207Ter Multiple submitters retinoblastoma
p.Gln266Ter Multiple submitters hereditary retinoblastoma
p.Gln344Ter Multiple submitters hereditary neoplastic syndrome
p.Gln354fs Multiple submitters RB1-related disorder
p.Gln35Ter Multiple submitters retinoblastoma
p.Gln383Ter Multiple submitters RB1-related disorder
p.Gln436Ter Multiple submitters retinoblastoma
p.Gln444= Multiple submitters retinoblastoma
p.Gln444His Multiple submitters retinoblastoma
p.Gln444Ter Multiple submitters retinoblastoma
p.Gln504Ter Multiple submitters retinoblastoma
p.Gln575Ter Multiple submitters retinoblastoma
p.Gln597Ter Multiple submitters retinoblastoma
p.Gln62Ter Multiple submitters retinoblastoma
p.Gln631Ter Multiple submitters retinoblastoma
p.Gln637Ter Multiple submitters hereditary neoplastic syndrome
p.Gln639Ter Multiple submitters retinoblastoma
p.Gln685Ter Multiple submitters hereditary neoplastic syndrome
p.Gln689Ter Multiple submitters retinoblastoma
p.Gln736Ter Multiple submitters RB1-related disorder
p.Gln762Ter Multiple submitters retinoblastoma
p.Gln770Ter Multiple submitters retinoblastoma
p.Glu137Ter Multiple submitters hereditary retinoblastoma
p.Glu166Ter Multiple submitters hereditary retinoblastoma
p.Glu19fs Multiple submitters hereditary neoplastic syndrome
p.Glu19Ter Multiple submitters hereditary neoplastic syndrome
p.Glu204fs Multiple submitters retinoblastoma
p.Glu237Ter Multiple submitters hereditary neoplastic syndrome
p.Glu287= Multiple submitters retinoblastoma
p.Glu287Ter Multiple submitters retinoblastoma
p.Glu30Ter Multiple submitters hereditary neoplastic syndrome
p.Glu323Ter Multiple submitters retinoblastoma
p.Glu398fs Multiple submitters hereditary neoplastic syndrome
p.Glu413Ter Multiple submitters retinoblastoma
p.Glu440Ter Multiple submitters retinoblastoma
p.Glu458Ter Multiple submitters hereditary neoplastic syndrome
p.Glu533Ter Multiple submitters retinoblastoma
p.Glu53fs Multiple submitters retinoblastoma
p.Glu545Ter Multiple submitters hereditary neoplastic syndrome
p.Glu54Ter Multiple submitters retinoblastoma
p.Glu629fs Multiple submitters retinoblastoma
p.Glu746fs Multiple submitters retinoblastoma
p.Glu746Ter Multiple submitters retinoblastoma
p.Glu747fs Multiple submitters retinoblastoma
p.Glu748Ter Multiple submitters retinoblastoma
p.Glu97fs Multiple submitters retinoblastoma
p.Gly437fs Multiple submitters retinoblastoma
p.Gly801Ter Multiple submitters retinoblastoma
p.Ile124fs Multiple submitters hereditary neoplastic syndrome
p.Ile126fs Multiple submitters hereditary neoplastic syndrome
p.Ile246fs Multiple submitters RB1-related disorder
p.Leu151_Leu152insTer Multiple submitters retinoblastoma
p.Leu468Ter Multiple submitters hereditary neoplastic syndrome
p.Leu523Ter Multiple submitters retinoblastoma
p.Leu542Ter Multiple submitters retinoblastoma
p.Leu569fs Multiple submitters hereditary neoplastic syndrome
p.Leu60Ter Multiple submitters retinoblastoma
p.Leu64Ter Multiple submitters retinoblastoma
p.Leu665_Cys666insTer Multiple submitters retinoblastoma
p.Leu797_Arg798insGlnValSerTerProLeu Multiple submitters hereditary neoplastic syndrome
p.Leu88= Multiple submitters retinoblastoma
p.Lys192fs Multiple submitters retinoblastoma
p.Lys432Ter Multiple submitters retinoblastoma
p.Lys475Ter Multiple submitters retinoblastoma
p.Lys530_Val531insTer Multiple submitters hereditary neoplastic syndrome
p.Lys652Ter Multiple submitters retinoblastoma
p.Lys740fs Multiple submitters retinoblastoma
p.Lys765Ter Multiple submitters retinoblastoma
p.Lys96fs Multiple submitters retinoblastoma
p.Met386fs Multiple submitters retinoblastoma
p.Phe526fs Multiple submitters retinoblastoma
p.Pro822fs Multiple submitters retinoblastoma
p.Ser149Ter Multiple submitters hereditary neoplastic syndrome
p.Ser318fs Multiple submitters retinoblastoma
p.Ser443Ter Multiple submitters retinoblastoma
p.Ser576fs Multiple submitters hereditary neoplastic syndrome
p.Ser618fs Multiple submitters hereditary neoplastic syndrome
p.Ser780Ter Multiple submitters retinoblastoma
p.Ser807Ter Multiple submitters retinoblastoma
p.Ser811fs Multiple submitters retinoblastoma
p.Ser82Ter Multiple submitters retinoblastoma
p.Ser834Ter Multiple submitters hereditary neoplastic syndrome
p.Ser838Ter Multiple submitters hereditary neoplastic syndrome
p.Thr342fs Multiple submitters hereditary neoplastic syndrome
p.Thr5fs Multiple submitters retinoblastoma
p.Thr823fs Multiple submitters hereditary neoplastic syndrome
p.Thr841_Ser842insTer Multiple submitters retinoblastoma
p.Trp195Ter Multiple submitters retinoblastoma
p.Trp516Ter Multiple submitters retinoblastoma
p.Trp681Ter Multiple submitters hereditary retinoblastoma
p.Trp99Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr529Ter Multiple submitters hereditary neoplastic syndrome
p.Val654Met Multiple submitters hereditary neoplastic syndrome ⚠
c.1047_1049+168delinsATCAATAA Single submitter hereditary neoplastic syndrome
c.1049+2T>A Single submitter retinoblastoma
c.1049+2T>C Single submitter retinoblastoma
c.1050-1G>A Single submitter retinoblastoma
c.1050-1G>C Single submitter retinoblastoma
c.1050-1G>T Single submitter retinoblastoma
c.1050-2_1052del Single submitter retinoblastoma
c.1050-8_1050-2del Single submitter retinoblastoma
c.1128-1G>T Single submitter retinoblastoma
c.1128-2A>T Single submitter retinoblastoma
c.1215+2T>A Single submitter retinoblastoma
c.1215+2T>C Single submitter retinoblastoma
c.1216-1G>T Single submitter retinoblastoma
c.1216-3A>G Single submitter retinoblastoma
c.1332+1G>C Single submitter retinoblastoma
c.1332+1G>T Single submitter retinoblastoma
c.1332+2T>G Single submitter retinoblastoma
c.1333-1G>C Single submitter retinoblastoma
c.1333-2del Single submitter retinoblastoma
c.137+1G>T Single submitter hereditary neoplastic syndrome
c.137+2T>G Single submitter retinoblastoma
c.138-1G>T Single submitter hereditary retinoblastoma
c.1389+2T>A Single submitter retinoblastoma
c.1390del Single submitter retinoblastoma
c.1421_1421+9delinsCTTTTAGTAAAAAATTTACTTTTAGTAAAATTTTACTTTTAGTAAAATTTTAGTAAAAATTTACTTTTAGTAAAAAA Single submitter retinoblastoma
c.1421+12_1456del Single submitter retinoblastoma
c.1421+1del Single submitter hereditary neoplastic syndrome
c.1421+2T>A Single submitter retinoblastoma
c.1421+2T>G Single submitter retinoblastoma
c.1422-1_1428dup Single submitter retinoblastoma
c.1422-1G>T Single submitter hereditary neoplastic syndrome
c.1422-2A>C Single submitter retinoblastoma
c.1493_1498+86del Single submitter retinoblastoma
c.1498+1G>C Single submitter RB1-related disorder
c.1498+1G>T Single submitter retinoblastoma
c.1498+2T>C Single submitter hereditary neoplastic syndrome
c.1498+5G>A Single submitter retinoblastoma
c.1499-1G>A Single submitter retinoblastoma
c.1499-1G>T Single submitter retinoblastoma
c.1499-2A>C Single submitter retinoblastoma
c.1499-3_1499del Single submitter retinoblastoma
c.1499del Single submitter retinoblastoma
c.1695+1G>A Single submitter retinoblastoma
c.1695+1G>C Single submitter retinoblastoma
c.1695+1G>T Single submitter retinoblastoma
c.1695+2T>A Single submitter retinoblastoma
c.1695+3A>C Single submitter hereditary neoplastic syndrome
c.1696-1_1696delinsCT Single submitter hereditary retinoblastoma
c.1814+1307C>G Single submitter hereditary neoplastic syndrome
c.1814+2T>G Single submitter hereditary neoplastic syndrome
c.1960_1960+1insC Single submitter retinoblastoma
c.1960+1316_2107-767del Single submitter retinoblastoma
c.1960+1del Single submitter retinoblastoma
c.1960+1G>A Single submitter retinoblastoma
c.1960+2T>A Single submitter retinoblastoma
c.1960+2T>C Single submitter retinoblastoma
c.1960+2T>G Single submitter retinoblastoma
c.1961-17_1965del Single submitter retinoblastoma
c.1961-293_1987del Single submitter retinoblastoma
c.1961-2A>C Single submitter hereditary retinoblastoma
c.1961-2del Single submitter retinoblastoma
c.1961-623_2107-367del Single submitter retinoblastoma
c.2106+1G>A Single submitter retinoblastoma
c.2106+1G>C Single submitter retinoblastoma
c.2106+2T>A Single submitter retinoblastoma
c.2107-18_2110del Single submitter retinoblastoma
c.2212-1G>C Single submitter retinoblastoma
c.2325+1del Single submitter retinoblastoma
c.2325+2T>A Single submitter retinoblastoma
c.2326-1G>T Single submitter retinoblastoma
c.2488_2489+7del Single submitter
c.2489+2T>C Single submitter retinoblastoma
c.2490-1_2490del Single submitter retinoblastoma
c.2490-1G>T Single submitter retinoblastoma
c.2490-2A>G Single submitter retinoblastoma
c.2520+1G>C Single submitter retinoblastoma
c.264+1G>T Single submitter retinoblastoma
c.265-1G>A Single submitter retinoblastoma
c.265-2A>G Single submitter retinoblastoma
c.2663+1G>T Single submitter retinoblastoma
c.380+2T>C Single submitter lung adenocarcinoma
c.380+3A>T Single submitter retinoblastoma
c.381-1G>C Single submitter retinoblastoma
c.382_383dupGT Single submitter hereditary neoplastic syndrome
c.500+2T>C Single submitter retinoblastoma
c.501-1G>T Single submitter retinoblastoma
c.718_718+1insAT Single submitter hereditary neoplastic syndrome
c.853_861+5del Single submitter retinoblastoma
c.861+2del Single submitter
c.862-1G>A Single submitter
c.862-1G>C Single submitter retinoblastoma
c.862-2A>C Single submitter hereditary neoplastic syndrome
c.939+1G>A Single submitter retinoblastoma
c.939+1G>C Single submitter retinoblastoma
c.939+2T>C Single submitter retinoblastoma
c.940-1G>T Single submitter retinoblastoma
c.940-2A>C Single submitter retinoblastoma
c.940-2A>T Single submitter hereditary retinoblastoma
p.Ala17fs Single submitter retinoblastoma
p.Ala18fs Single submitter retinoblastoma
p.Ala201delinsAspTer Single submitter retinoblastoma
p.Ala201fs Single submitter retinoblastoma
p.Ala264Ter Single submitter retinoblastoma
p.Ala525fs Single submitter retinoblastoma
p.Ala538fs Single submitter retinoblastoma
p.Ala59fs Single submitter retinoblastoma
p.Ala602fs Single submitter retinoblastoma
p.Ala626fs Single submitter retinoblastoma
p.Ala632fs Single submitter retinoblastoma
p.Ala658fs Single submitter urinary bladder cancer
p.Ala727fs Single submitter retinoblastoma
p.Ala734fs Single submitter retinoblastoma
p.Ala74fs Single submitter retinoblastoma
p.Arg262_Ile263insTer Single submitter retinoblastoma
p.Arg272fs Single submitter hereditary neoplastic syndrome
p.Arg272Ter Single submitter retinoblastoma

Pathogenic/Likely pathogenic 61

c.1049+1G>A Multiple submitters hereditary neoplastic syndrome
c.1049+1G>T Multiple submitters hereditary neoplastic syndrome
c.1049+3A>G Multiple submitters hereditary neoplastic syndrome
c.1050-2A>G Multiple submitters hereditary neoplastic syndrome
c.1215+1G>T Multiple submitters hereditary neoplastic syndrome
c.1216-1G>A Multiple submitters retinoblastoma
c.1390-14A>G Multiple submitters retinoblastoma
c.1390-2A>C Multiple submitters hereditary neoplastic syndrome
c.1390-2A>G Multiple submitters retinoblastoma
c.1421+1G>C Multiple submitters hereditary neoplastic syndrome
c.1498+1G>A Multiple submitters hereditary neoplastic syndrome
c.1498+2T>G Multiple submitters hereditary neoplastic syndrome
c.1696-12T>G Multiple submitters retinoblastoma
c.1960+1G>T Multiple submitters retinoblastoma
c.2107-2A>G Multiple submitters hereditary neoplastic syndrome
c.2211+2T>C Multiple submitters hereditary retinoblastoma
c.2212-14C>G Multiple submitters retinoblastoma
c.2325+1G>C Multiple submitters hereditary neoplastic syndrome
c.2326-2A>G Multiple submitters hereditary neoplastic syndrome
c.2490-1398A>G Multiple submitters retinoblastoma
c.2520+3_2520+6del Multiple submitters hereditary neoplastic syndrome
c.2520+5G>A Multiple submitters hereditary neoplastic syndrome
c.2520+5G>C Multiple submitters hereditary neoplastic syndrome
c.2520+5G>T Multiple submitters retinoblastoma
c.2663+2T>C Multiple submitters hereditary neoplastic syndrome
c.380+2T>G Multiple submitters hereditary neoplastic syndrome
c.381-1G>A Multiple submitters retinoblastoma
c.607+1del Multiple submitters hereditary neoplastic syndrome
c.607+1G>C Multiple submitters hereditary neoplastic syndrome
c.-198G>A Multiple submitters hereditary neoplastic syndrome
c.-206_-189del Multiple submitters retinoblastoma
p.Ala11fs Multiple submitters retinoblastoma
p.Asp286Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp730fs Multiple submitters hereditary retinoblastoma
p.Cys706Tyr Multiple submitters retinoblastoma
p.Cys712Arg Multiple submitters hereditary retinoblastoma
p.Gln471Ter Multiple submitters hereditary neoplastic syndrome
p.Gln93Ter Multiple submitters hereditary neoplastic syndrome
p.Glu125Ter Multiple submitters retinoblastoma
p.Glu313= Multiple submitters retinoblastoma
p.Gly449Arg Multiple submitters hereditary neoplastic syndrome
p.Leu267fs Multiple submitters retinoblastoma
p.Leu468fs Multiple submitters retinoblastoma
p.Leu594fs Multiple submitters retinoblastoma
p.Lys427fs Multiple submitters retinoblastoma
p.Lys530Arg Multiple submitters retinoblastoma ⚠
p.Phe104fs Multiple submitters retinoblastoma
p.Phe473fs Multiple submitters hereditary neoplastic syndrome
p.Phe535fs Multiple submitters hereditary neoplastic syndrome
p.Pro812fs Multiple submitters retinoblastoma
p.Ser127Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser127Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser230fs Multiple submitters retinoblastoma
p.Ser485fs Multiple submitters retinoblastoma
p.Ser888Asn Multiple submitters retinoblastoma ⚠
p.Thr12fs Multiple submitters retinoblastoma
p.Tyr321Ter Multiple submitters retinoblastoma
p.Tyr446Ter Multiple submitters retinoblastoma
p.Tyr454Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr655fs Multiple submitters hereditary neoplastic syndrome
p.Val654Leu Multiple submitters retinoblastoma

Likely pathogenic 97

c.1215+5G>A Multiple submitters hereditary neoplastic syndrome
c.1389+5G>C Multiple submitters retinoblastoma
c.1960+5G>A Multiple submitters hereditary neoplastic syndrome
c.2212-13T>A Multiple submitters hereditary retinoblastoma
c.2490-28T>C Multiple submitters retinoblastoma
c.2520+4A>G Multiple submitters retinoblastoma
c.264+5G>A Multiple submitters retinoblastoma
c.539+1G>A Multiple submitters hereditary neoplastic syndrome
c.710_718+5del Multiple submitters retinoblastoma
c.862-10T>C Multiple submitters hereditary neoplastic syndrome
c.-197G>A Multiple submitters retinoblastoma
p.Met1Val Multiple submitters hereditary neoplastic syndrome
p.Ser474Ile Multiple submitters hereditary neoplastic syndrome
p.Ser567Leu Multiple submitters retinoblastoma
c.1128-106_1128del Single submitter hereditary neoplastic syndrome
c.1215+63T>G Single submitter retinoblastoma
c.138-5_146del Single submitter retinoblastoma
c.1389+4A>C Single submitter hereditary neoplastic syndrome
c.1389+4A>G Single submitter retinoblastoma
c.1389+4A>T Single submitter retinoblastoma
c.1421+12_1421+32del Single submitter hereditary neoplastic syndrome
c.1421+18_1421+38del Single submitter hereditary neoplastic syndrome
c.1421+20_1421+33del Single submitter retinoblastoma
c.1695+5G>A Single submitter retinoblastoma
c.1695+5G>T Single submitter retinoblastoma
c.1696-2A>G Single submitter hereditary neoplastic syndrome
c.1815-11A>G Single submitter retinoblastoma
c.1815del Single submitter
c.2107-1G>A Single submitter hereditary neoplastic syndrome
c.2265_2343delinsAT Single submitter retinoblastoma
c.2325+2T>C Single submitter
c.2325+2T>G Single submitter retinoblastoma
c.2325+5G>C Single submitter retinoblastoma
c.2326-14T>A Single submitter retinoblastoma
c.2326-14T>C Single submitter retinoblastoma
c.2490-1530_*109del Single submitter urinary bladder cancer
c.2490-1G>C Single submitter retinoblastoma
c.2490-26A>C Single submitter retinoblastoma
c.2490-26A>G Single submitter retinoblastoma
c.2490-26A>T Single submitter retinoblastoma
c.2490-28T>G Single submitter hereditary neoplastic syndrome
c.2490-6T>G Single submitter RB1-related disorder
c.2520+6T>C Single submitter retinoblastoma
c.2520+6T>G Single submitter retinoblastoma
c.381-2A>T Single submitter urinary bladder cancer
c.534_539+5del Single submitter retinoblastoma
c.608-3418A>G Single submitter retinoblastoma
c.718+4_718+7del Single submitter hereditary neoplastic syndrome
c.718+5G>A Single submitter hereditary neoplastic syndrome
c.719-1_719delinsAG Single submitter retinoblastoma
c.719-2A>T Single submitter retinoblastoma
c.861+2T>C Single submitter hereditary neoplastic syndrome
c.861+828T>G Single submitter retinoblastoma
c.939+4A>G Single submitter hereditary neoplastic syndrome
c.-192G>A Single submitter retinoblastoma
c.-193T>A Single submitter retinoblastoma
c.-197G>C Single submitter retinoblastoma
c.-197G>T Single submitter retinoblastoma
c.-198_-189delinsAA Single submitter retinoblastoma
c.-198G>T Single submitter retinoblastoma
p.Ala107fs Single submitter retinoblastoma
p.Arg775Ser Single submitter retinoblastoma ⚠
p.Arg828_Ser829insLysTer Single submitter retinoblastoma
p.Asp363fs Single submitter retinoblastoma
p.Asp701fs Single submitter retinoblastoma
p.Cys666fs Single submitter retinoblastoma
p.Gln444Arg Single submitter RB1-related disorder ⚠
p.Gln444Leu Single submitter retinoblastoma ⚠
p.Gln444Pro Single submitter retinoblastoma
p.Gln702Lys Single submitter retinoblastoma
p.Glu112fs Single submitter hereditary neoplastic syndrome
p.Glu313Asp Single submitter RB1-related disorder ⚠
p.Glu817fs Single submitter retinoblastoma
p.Gly449Val Single submitter retinoblastoma
p.His483Arg Single submitter retinoblastoma
p.Leu218Val Single submitter retinoblastoma ⚠
p.Leu400Pro Single submitter retinoblastoma
p.Leu657Pro Single submitter retinoblastoma
p.Leu662Pro Single submitter retinoblastoma
p.Leu809_Lys810insTer Single submitter retinoblastoma
p.Lys122fs Single submitter hereditary retinoblastoma
p.Lys715Ter Single submitter hereditary neoplastic syndrome
p.Lys80fs Single submitter retinoblastoma
p.Met546fs Single submitter hereditary neoplastic syndrome
p.Met695Lys Single submitter retinoblastoma
p.Phe721fs Single submitter retinoblastoma
p.Phe760Ser Single submitter retinoblastoma
p.Ser127Ile Single submitter retinoblastoma
p.Ser469fs Single submitter hereditary neoplastic syndrome
p.Ser888Thr Single submitter retinoblastoma ⚠
p.Thr510fs Single submitter retinoblastoma
p.Trp195Leu Single submitter retinoblastoma
c.1421+1G>T No assertion criteria RB1-related disorder
p.Arg334fs No assertion criteria retinoblastoma
p.Leu135fs No assertion criteria retinoblastoma
p.Ser302fs No assertion criteria retinoblastoma
p.Tyr91Ter No assertion criteria Lynch syndrome 4

Conflicting classifications of pathogenicity 256

c.1050-5T>C Single submitter hereditary neoplastic syndrome
c.1128-5del Single submitter hereditary neoplastic syndrome
c.1128-5T>C Single submitter hereditary neoplastic syndrome
c.1215+10A>G Single submitter urinary bladder cancer
c.1215+3A>G Single submitter retinoblastoma
c.1332+3A>T Single submitter retinoblastoma
c.1333-9dup Single submitter retinoblastoma
c.137+6C>A Single submitter retinoblastoma
c.137+6C>T Single submitter retinoblastoma
c.1390-11A>G Single submitter hereditary retinoblastoma
c.1390-17T>A Single submitter retinoblastoma
c.1421+11dup Single submitter retinoblastoma
c.1421+5A>G Single submitter retinoblastoma
c.1421+6T>C Single submitter hereditary neoplastic syndrome
c.1422-4T>G Single submitter retinoblastoma
c.1498+4A>G Single submitter retinoblastoma
c.1498+4A>T Single submitter retinoblastoma
c.1696-14C>T Single submitter retinoblastoma
c.1696-4A>G Single submitter hereditary neoplastic syndrome
c.1814+11T>C Single submitter retinoblastoma
c.1814+3A>G Single submitter hereditary neoplastic syndrome
c.1815-5T>C Single submitter hereditary neoplastic syndrome
c.1961-4A>G Single submitter hereditary neoplastic syndrome
c.2106+2T>C Single submitter retinoblastoma ⚠
c.2106+3A>G Single submitter hereditary neoplastic syndrome
c.2107-13A>C Single submitter hereditary neoplastic syndrome
c.2212-15A>G Single submitter retinoblastoma
c.2212-16T>A Single submitter retinoblastoma
c.2325+5G>A Single submitter hereditary neoplastic syndrome
c.2489+3G>T Single submitter retinoblastoma
c.2490-1470G>A Single submitter hereditary neoplastic syndrome
c.2490-29C>T Single submitter retinoblastoma
c.2490-4A>G Single submitter hereditary neoplastic syndrome
c.2490-5G>A Single submitter retinoblastoma
c.2520+3G>A Single submitter retinoblastoma
c.2521-4G>T Single submitter hereditary neoplastic syndrome
c.2521-7T>A Single submitter hereditary neoplastic syndrome
c.264+2T>C Single submitter hereditary neoplastic syndrome ⚠
c.2714-12T>A Single submitter hereditary neoplastic syndrome
c.2714-7T>C Single submitter retinoblastoma
c.381-12T>C Single submitter retinoblastoma
c.500+3A>G Single submitter retinoblastoma
c.501-15T>G Single submitter retinoblastoma
c.501-2A>G Single submitter hereditary neoplastic syndrome ⚠
c.539+1G>C Single submitter retinoblastoma ⚠
c.539+4A>G Single submitter urinary bladder cancer
c.607+5G>A Single submitter retinoblastoma
c.608-2del Single submitter retinoblastoma ⚠
c.608-5_608-4del Single submitter retinoblastoma
c.608-7T>G Single submitter retinoblastoma
c.718+5G>T Single submitter hereditary neoplastic syndrome
c.719-3C>G Single submitter retinoblastoma
c.861+5T>G Single submitter hereditary neoplastic syndrome
c.861+6T>C Single submitter retinoblastoma
c.940-10_940-9del Single submitter retinoblastoma
c.-149G>T Single submitter urinary bladder cancer
c.-150G>C Single submitter hereditary neoplastic syndrome
c.-15C>T Single submitter hereditary retinoblastoma
c.-19C>T Single submitter retinoblastoma
c.-1C>T Single submitter hereditary neoplastic syndrome
c.-69G>C Single submitter hereditary neoplastic syndrome
p.9TAA[1] Single submitter hereditary neoplastic syndrome
p.Ala17_Ala18dup Single submitter hereditary neoplastic syndrome
p.Ala188Thr Single submitter retinoblastoma ⚠
p.Ala22Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala261Val Single submitter retinoblastoma ⚠
p.Ala392Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala488Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala490Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala496Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala525Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala589Gly Single submitter retinoblastoma ⚠
p.Ala589Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala628Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala628Val Single submitter retinoblastoma ⚠
p.Ala632Glu Single submitter hereditary neoplastic syndrome ⚠
p.Ala885Thr Single submitter retinoblastoma ⚠
p.Ala902Glu Single submitter retinoblastoma ⚠
p.Arg251Gln Single submitter small cell lung carcinoma
p.Arg254Lys Single submitter urinary bladder cancer
p.Arg255Gln Single submitter retinoblastoma
p.Arg262Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg358Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg376Ser Single submitter hereditary neoplastic syndrome ⚠
p.Arg451Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg46Thr Single submitter retinoblastoma ⚠
p.Arg552Gln Single submitter retinoblastoma ⚠
p.Arg556Gln Single submitter retinoblastoma ⚠
p.Arg579Gln Single submitter retinoblastoma ⚠
p.Arg621Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg621His Single submitter hereditary neoplastic syndrome ⚠
p.Arg621Ser Single submitter hereditary neoplastic syndrome ⚠
p.Arg656Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg661Pro Single submitter retinoblastoma ⚠
p.Arg668His Single submitter hereditary neoplastic syndrome ⚠
p.Arg698Ser Single submitter retinoblastoma ⚠
p.Arg698Thr Single submitter hereditary neoplastic syndrome ⚠
p.Arg73Thr Single submitter urinary bladder cancer ⚠
p.Arg741Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg741His Single submitter retinoblastoma ⚠
p.Arg763Ser Single submitter hereditary neoplastic syndrome ⚠
p.Arg787Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg798Gln Single submitter hereditary neoplastic syndrome
p.Arg798Trp Single submitter hereditary neoplastic syndrome
p.Arg830Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg857Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg857Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg857His Single submitter hereditary neoplastic syndrome ⚠
p.Arg876Cys Single submitter hereditary neoplastic syndrome
p.Arg910Gln Single submitter hereditary neoplastic syndrome ⚠
p.Asn123Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn133His Single submitter hereditary neoplastic syndrome ⚠
p.Asn146His Single submitter hereditary neoplastic syndrome ⚠
p.Asn247Asp Single submitter RB1-related disorder ⚠
p.Asn269Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn284Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn290fs Single submitter retinoblastoma ⚠
p.Asn309Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn316Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn361Lys Single submitter hereditary neoplastic syndrome ⚠
p.Asn380Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn522Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn663Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn917Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asp111= Single submitter hereditary neoplastic syndrome
p.Asp156Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Asp349= Single submitter hereditary neoplastic syndrome
p.Asp507His Single submitter ovarian cancer ⚠
p.Asp584Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Asp697Glu Single submitter urinary bladder cancer ⚠
p.Asp856Asn Single submitter hereditary retinoblastoma ⚠
p.Asp856Glu Single submitter hereditary neoplastic syndrome ⚠
p.Cys489Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Gln35Leu Single submitter hereditary neoplastic syndrome ⚠
p.Gln631Lys Single submitter hereditary neoplastic syndrome ⚠
p.Gln898His Single submitter hereditary neoplastic syndrome ⚠
p.Glu170Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu184Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu204Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu30Ala Single submitter retinoblastoma ⚠
p.Glu322Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu365Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu365Gln Single submitter hereditary neoplastic syndrome ⚠
p.Glu440Lys Single submitter urinary bladder cancer ⚠
p.Glu50Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu50Gln Single submitter retinoblastoma ⚠
p.Glu54Gly Single submitter retinoblastoma ⚠
p.Glu672Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu693Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu72Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu79Gln Single submitter hereditary neoplastic syndrome ⚠
p.Gly310Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gly423Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gly840Arg Single submitter RB1-related disorder ⚠
p.Gly90Val Single submitter hereditary neoplastic syndrome ⚠
p.His733Arg Single submitter retinoblastoma
p.His733Leu Single submitter hereditary neoplastic syndrome ⚠
p.Ile124Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile181Leu Single submitter hereditary neoplastic syndrome ⚠
p.Ile181Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile244Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ile348Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ile348Val Single submitter retinoblastoma ⚠
p.Ile388Ser Single submitter retinoblastoma
p.Ile425Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ile470Met Single submitter urinary bladder cancer ⚠
p.Ile470Val Single submitter urinary bladder cancer ⚠
p.Ile680Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile782Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile799Met Single submitter hereditary neoplastic syndrome ⚠
p.Ile831Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu151Gln Single submitter hereditary neoplastic syndrome ⚠
p.Leu174Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu212Met Single submitter hereditary neoplastic syndrome
p.Leu362Phe Single submitter hereditary neoplastic syndrome ⚠
p.Leu400Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu561Phe Single submitter hereditary neoplastic syndrome ⚠
p.Leu642Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu859Ile Single submitter hereditary neoplastic syndrome ⚠
p.Leu872Pro Single submitter RB1-related disorder ⚠
p.Lys136Asn Single submitter hereditary neoplastic syndrome ⚠
p.Lys153Asn Single submitter hereditary neoplastic syndrome ⚠
p.Lys154= Single submitter hereditary neoplastic syndrome
p.Lys420Glu Single submitter hereditary neoplastic syndrome ⚠
p.Lys432Glu Single submitter hereditary neoplastic syndrome ⚠
p.Lys745Arg Single submitter hereditary neoplastic syndrome ⚠
p.Lys791Arg Single submitter hereditary neoplastic syndrome ⚠
p.Lys80Asn Single submitter hereditary neoplastic syndrome ⚠
p.Lys80Glu Single submitter retinoblastoma ⚠
p.Lys874Gln Single submitter hereditary neoplastic syndrome ⚠
p.Lys925Arg Single submitter hereditary neoplastic syndrome ⚠
p.Met113Ile Single submitter retinoblastoma ⚠
p.Met148Val Single submitter retinoblastoma ⚠
p.Met233Val Single submitter hereditary neoplastic syndrome ⚠
p.Met460Val Single submitter hereditary neoplastic syndrome ⚠
p.Met605Ile Single submitter hereditary neoplastic syndrome ⚠
p.Met920Thr Single submitter hereditary neoplastic syndrome ⚠
p.Met920Val Single submitter hereditary neoplastic syndrome ⚠
p.Phe132Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Phe159Cys Single submitter hereditary neoplastic syndrome ⚠
p.Phe159Leu Single submitter hereditary neoplastic syndrome ⚠
p.Phe845Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro20Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro21Leu Single submitter retinoblastoma ⚠
p.Pro232Ser Single submitter hereditary neoplastic syndrome ⚠
p.Pro25Leu Single submitter retinoblastoma ⚠
p.Pro27Arg Single submitter hereditary neoplastic syndrome ⚠
p.Pro28Arg Single submitter retinoblastoma ⚠
p.Pro28Leu Single submitter retinoblastoma ⚠
p.Pro29del Single submitter retinoblastoma
p.Pro29dup Single submitter hereditary neoplastic syndrome
p.Pro370Ser Single submitter hereditary neoplastic syndrome ⚠
p.Pro39Leu Single submitter retinoblastoma ⚠
p.Pro55Thr Single submitter hereditary neoplastic syndrome ⚠
p.Pro609= Single submitter retinoblastoma
p.Pro6Leu Single submitter urinary bladder cancer ⚠
p.Pro6Ser Single submitter hereditary neoplastic syndrome ⚠
p.Pro786Ser Single submitter hereditary neoplastic syndrome ⚠
p.Pro793Ser Single submitter hereditary neoplastic syndrome ⚠
p.Pro822Ala Single submitter hereditary neoplastic syndrome ⚠
p.Pro892Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ser127= Single submitter hereditary neoplastic syndrome
p.Ser149Leu Single submitter retinoblastoma ⚠
p.Ser178Asn Single submitter hereditary neoplastic syndrome ⚠
p.Ser179Ile Single submitter retinoblastoma ⚠
p.Ser180Leu Single submitter hereditary neoplastic syndrome ⚠
p.Ser187Phe Single submitter hereditary neoplastic syndrome ⚠
p.Ser302Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Ser347Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ser37Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ser393Asn Single submitter retinoblastoma ⚠
p.Ser414Arg Single submitter urinary bladder cancer
p.Ser463= Single submitter hereditary neoplastic syndrome
p.Ser499Asn Single submitter hereditary neoplastic syndrome ⚠
p.Ser499Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ser794Thr Single submitter retinoblastoma ⚠
p.Ser811Asn Single submitter hereditary neoplastic syndrome ⚠
p.Ser811Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ser811Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ser82Leu Single submitter hereditary neoplastic syndrome ⚠
p.Ser834= Single submitter hereditary neoplastic syndrome
p.Thr12Ala Single submitter hereditary neoplastic syndrome ⚠
p.Thr356Ile Single submitter hereditary neoplastic syndrome ⚠
p.Thr502Ile Single submitter hereditary neoplastic syndrome ⚠
p.Thr620Met Single submitter retinoblastoma ⚠
p.Thr778Ala Single submitter urinary bladder cancer ⚠
p.Thr821Ala Single submitter hereditary neoplastic syndrome ⚠
p.Thr909Lys Single submitter retinoblastoma
p.Tyr659Cys Single submitter hereditary neoplastic syndrome ⚠
p.Tyr91= Single submitter hereditary neoplastic syndrome
p.Val193Leu Single submitter hereditary neoplastic syndrome ⚠
p.Val205Ile Single submitter retinoblastoma ⚠
p.Val306Ile Single submitter hereditary neoplastic syndrome ⚠
p.Val314Asp Single submitter hereditary neoplastic syndrome ⚠
p.Val654_Tyr655delinsAsp Single submitter retinoblastoma
p.Val87Ile Single submitter retinoblastoma ⚠

Benign 120

c.1049+58G>A Multiple submitters
c.1127+74C>T Multiple submitters
c.1128-72G>T Multiple submitters hereditary retinoblastoma
c.137+107G>A Multiple submitters hereditary retinoblastoma
c.137+86T>C Multiple submitters hereditary retinoblastoma
c.1390-17dup Multiple submitters
c.1421+19G>A Multiple submitters retinoblastoma
c.1499-57del Multiple submitters hereditary retinoblastoma
c.1695+29860G>T Multiple submitters
c.1695+97T>A Multiple submitters
c.1961-77G>A Multiple submitters
c.2212-15_2212-14del Multiple submitters retinoblastoma
c.2490-79A>G Multiple submitters hereditary retinoblastoma
c.264+75T>C Multiple submitters hereditary retinoblastoma
c.2663+33C>T Multiple submitters hereditary retinoblastoma
c.380+45C>T Multiple submitters hereditary retinoblastoma
c.500+23T>G Multiple submitters hereditary retinoblastoma
c.501-77A>G Multiple submitters
c.540-14T>C Multiple submitters retinoblastoma
c.718+312A>T Multiple submitters
c.*172G>A Multiple submitters retinoblastoma
c.1049+270G>A Single submitter
c.1127+20del Single submitter retinoblastoma
c.1128-43C>T Single submitter retinoblastoma
c.1128-45C>T Single submitter retinoblastoma
c.1215+220G>A Single submitter
c.1216-230G>T Single submitter
c.1333-61dup Single submitter
c.138-262G>C Single submitter
c.1389+194del Single submitter
c.1389+25del Single submitter retinoblastoma
c.1389+34G>A Single submitter lung adenocarcinoma
c.1390-168G>C Single submitter
c.1390-70del Single submitter
c.1390-70dup Single submitter
c.1421+13C>A Single submitter retinoblastoma
c.1421+17T>C Single submitter retinoblastoma
c.1421+29_1421+30delinsA Single submitter retinoblastoma
c.1421+33dup Single submitter retinoblastoma
c.1422-16T>C Single submitter retinoblastoma
c.1499-11_1499-10dup Single submitter retinoblastoma
c.1499-182T>A Single submitter
c.1695+30615A>T Single submitter retinoblastoma ⚠
c.1695+81_1695+82insAA Single submitter
c.1696-277C>T Single submitter
c.1696-30191del Single submitter
c.1815-104A>G Single submitter
c.2106+111dup Single submitter
c.2106+119_2106+120insCT Single submitter
c.2106+119_2106+120insCTT Single submitter
c.2106+119_2106+120insCTTTCTT Single submitter
c.2106+120_2106+121del Single submitter
c.2106+121del Single submitter
c.2106+122_2106+149del Single submitter
c.2106+129dup Single submitter
c.2106+136C>T Single submitter
c.2106+139T>C Single submitter
c.2106+142del Single submitter
c.2106+146_2106+147insCTTTTT Single submitter
c.2106+146del Single submitter
c.2106+185A>G Single submitter
c.2106+68_2106+70del Single submitter
c.2106+96_2106+147del Single submitter
c.2212-13_2212-12insTTTTTTTT Single submitter retinoblastoma
c.2212-15A>T Single submitter
c.2212-16del Single submitter
c.2212-16dup Single submitter retinoblastoma
c.2212-17_2212-16dup Single submitter retinoblastoma
c.2212-18_2212-16del Single submitter retinoblastoma
c.2212-18_2212-16dup Single submitter retinoblastoma
c.2212-29_2212-16dup Single submitter retinoblastoma
c.2212-37_2212-16dup Single submitter retinoblastoma
c.2325+11del Single submitter retinoblastoma
c.2489+19G>T Single submitter retinoblastoma
c.2489+214G>T Single submitter
c.2490-22G>A Single submitter retinoblastoma
c.264+18dup Single submitter retinoblastoma
c.264+283T>C Single submitter
c.264+310dup Single submitter
c.265-244_265-237del Single submitter
c.265-9551T>A Single submitter
c.2664-10dup Single submitter retinoblastoma
c.2713+14del Single submitter retinoblastoma
c.2713+308G>A Single submitter
c.381-152A>G Single submitter
c.500+305G>T Single submitter
c.540-162T>C Single submitter
c.608-144dup Single submitter
c.608-3182C>T Single submitter
c.608-3377C>T Single submitter
c.608-3569T>C Single submitter
c.718+12A>G Single submitter retinoblastoma
c.719-315del Single submitter
c.861+167A>G Single submitter
c.861+262del Single submitter
c.861+262dup Single submitter
c.861+505C>G Single submitter
c.862-127del Single submitter
c.940-9del Single submitter retinoblastoma
c.-48C>T Single submitter retinoblastoma
c.-80G>A Single submitter retinoblastoma
c.*10G>A Single submitter retinoblastoma
c.*1268G>A Single submitter retinoblastoma
c.*1687T>C Single submitter retinoblastoma
c.*1748A>T Single submitter retinoblastoma
c.*1771A>G Single submitter retinoblastoma
c.*463T>A Single submitter retinoblastoma
c.*4T>C Single submitter retinoblastoma
c.*703G>T Single submitter retinoblastoma
c.*964C>G Single submitter retinoblastoma
p.Arg254= Single submitter retinoblastoma
p.Cys553= Single submitter retinoblastoma
p.Glu209= Single submitter retinoblastoma
p.Glu323= Single submitter retinoblastoma
p.Leu267= Single submitter retinoblastoma
p.Lys289= Single submitter retinoblastoma
p.Ser141= Single submitter retinoblastoma
p.Ser646= Single submitter retinoblastoma
p.Val144= Single submitter retinoblastoma
p.Val70= Single submitter retinoblastoma

Benign/Likely benign 199

c.1216-17_1216-16delinsTG Multiple submitters retinoblastoma
c.1216-29A>G Multiple submitters hereditary retinoblastoma
c.137+13A>T Multiple submitters retinoblastoma
c.138-20T>C Multiple submitters retinoblastoma
c.1390-14A>T Multiple submitters retinoblastoma
c.1390-16A>T Multiple submitters retinoblastoma
c.1390-17del Multiple submitters hereditary retinoblastoma
c.1421+14T>C Multiple submitters retinoblastoma
c.1421+16T>C Multiple submitters retinoblastoma
c.1421+26A>C Multiple submitters retinoblastoma
c.1421+26A>T Multiple submitters retinoblastoma
c.1421+27T>A Multiple submitters retinoblastoma
c.1421+28T>A Multiple submitters retinoblastoma
c.1421+9T>C Multiple submitters hereditary retinoblastoma
c.1422-8del Multiple submitters retinoblastoma
c.1499-10del Multiple submitters retinoblastoma
c.1499-10dup Multiple submitters retinoblastoma
c.1695+30060C>A Multiple submitters retinoblastoma
c.1960+19T>A Multiple submitters retinoblastoma
c.1961-12T>C Multiple submitters hereditary neoplastic syndrome
c.1961-6C>T Multiple submitters retinoblastoma
c.2106+8A>G Multiple submitters retinoblastoma
c.2212-12G>A Multiple submitters retinoblastoma
c.2212-12G>T Multiple submitters retinoblastoma
c.2212-14C>T Multiple submitters retinoblastoma
c.2212-15dup Multiple submitters hereditary neoplastic syndrome
c.2212-17_2212-16del Multiple submitters retinoblastoma
c.2212-6C>T Multiple submitters retinoblastoma
c.2212-9C>A Multiple submitters retinoblastoma
c.2490-1323C>T Multiple submitters
c.2490-15A>C Multiple submitters retinoblastoma
c.2490-22G>T Multiple submitters retinoblastoma
c.2490-43A>G Multiple submitters retinoblastoma
c.2490-45A>G Multiple submitters retinoblastoma
c.2521-11G>A Multiple submitters retinoblastoma
c.265-6_265-4del Multiple submitters hereditary neoplastic syndrome
c.2664-10T>A Multiple submitters retinoblastoma
c.2664-9A>C Multiple submitters retinoblastoma
c.2714-11C>T Multiple submitters retinoblastoma
c.2714-18T>C Multiple submitters retinoblastoma
c.380+10C>G Multiple submitters retinoblastoma
c.380+12T>C Multiple submitters hereditary retinoblastoma
c.381-11T>C Multiple submitters retinoblastoma
c.540-3T>C Multiple submitters retinoblastoma
c.608-4del Multiple submitters hereditary neoplastic syndrome
c.608-4dup Multiple submitters retinoblastoma
c.719-8T>C Multiple submitters hereditary neoplastic syndrome
c.862-15C>A Multiple submitters retinoblastoma
c.940-21C>A Multiple submitters retinoblastoma
c.-134G>T Multiple submitters retinoblastoma
p.Ala10= Multiple submitters retinoblastoma
p.Ala107= Multiple submitters retinoblastoma
p.Ala13= Multiple submitters hereditary neoplastic syndrome
p.Ala14= Multiple submitters hereditary neoplastic syndrome
p.Ala15= Multiple submitters retinoblastoma
p.Ala16= Multiple submitters retinoblastoma
p.Ala16_Ala18del Multiple submitters hereditary retinoblastoma
p.Ala18Ser Multiple submitters hereditary retinoblastoma
p.Ala490= Multiple submitters hereditary neoplastic syndrome
p.Ala525Gly Multiple submitters hereditary retinoblastoma ⚠
p.Ala626Thr Multiple submitters hereditary neoplastic syndrome
p.Ala727= Multiple submitters retinoblastoma
p.Arg255= Multiple submitters retinoblastoma
p.Arg320Gly Multiple submitters hereditary neoplastic syndrome
p.Arg445= Multiple submitters hereditary neoplastic syndrome
p.Arg544= Multiple submitters hereditary neoplastic syndrome
p.Arg621= Multiple submitters hereditary neoplastic syndrome
p.Arg621Gly Multiple submitters hereditary neoplastic syndrome
p.Arg656Gln Multiple submitters retinoblastoma
p.Arg668Cys Multiple submitters retinoblastoma
p.Arg7= Multiple submitters hereditary neoplastic syndrome
p.Arg741= Multiple submitters hereditary neoplastic syndrome
p.Arg828= Multiple submitters hereditary neoplastic syndrome
p.Arg876= Multiple submitters hereditary neoplastic syndrome
p.Asn133= Multiple submitters hereditary neoplastic syndrome
p.Asn361= Multiple submitters hereditary neoplastic syndrome
p.Asn380= Multiple submitters hereditary neoplastic syndrome
p.Asn405= Multiple submitters hereditary neoplastic syndrome
p.Asn803= Multiple submitters retinoblastoma
p.Asp210= Multiple submitters hereditary neoplastic syndrome
p.Asp210Tyr Multiple submitters urinary bladder cancer
p.Asp394Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp527= Multiple submitters retinoblastoma
p.Asp604= Multiple submitters hereditary neoplastic syndrome
p.Asp878= Multiple submitters hereditary neoplastic syndrome
p.Asp918= Multiple submitters hereditary neoplastic syndrome
p.Cys407= Multiple submitters hereditary neoplastic syndrome
p.Cys489= Multiple submitters retinoblastoma
p.Cys590= Multiple submitters hereditary neoplastic syndrome
p.Cys853= Multiple submitters hereditary neoplastic syndrome
p.Gln207= Multiple submitters retinoblastoma
p.Gln384= Multiple submitters hereditary neoplastic syndrome
p.Gln436Lys Multiple submitters retinoblastoma
p.Gln770= Multiple submitters hereditary neoplastic syndrome
p.Glu125= Multiple submitters retinoblastoma
p.Glu137Asp Multiple submitters hereditary neoplastic syndrome
p.Glu280= Multiple submitters retinoblastoma
p.Glu315= Multiple submitters retinoblastoma
p.Glu48= Multiple submitters hereditary neoplastic syndrome
p.Glu746= Multiple submitters hereditary neoplastic syndrome
p.Glu747= Multiple submitters hereditary neoplastic syndrome
p.Glu748= Multiple submitters hereditary neoplastic syndrome
p.Glu880= Multiple submitters retinoblastoma
p.Glu884Asp Multiple submitters hereditary neoplastic syndrome
p.Glu97= Multiple submitters retinoblastoma
p.Gly100= Multiple submitters retinoblastoma
p.Gly38= Multiple submitters hereditary neoplastic syndrome
p.Gly38Asp Multiple submitters hereditary neoplastic syndrome
p.Gly509= Multiple submitters retinoblastoma
p.Gly540Val Multiple submitters hereditary neoplastic syndrome
p.Gly893= Multiple submitters hereditary neoplastic syndrome
p.Gly90= Multiple submitters hereditary neoplastic syndrome
p.His281= Multiple submitters hereditary neoplastic syndrome
p.His372= Multiple submitters hereditary neoplastic syndrome
p.His483= Multiple submitters retinoblastoma
p.His69= Multiple submitters hereditary neoplastic syndrome
p.His890= Multiple submitters hereditary neoplastic syndrome
p.Ile103= Multiple submitters hereditary neoplastic syndrome
p.Ile274= Multiple submitters retinoblastoma
p.Ile388= Multiple submitters retinoblastoma
p.Ile470= Multiple submitters hereditary neoplastic syndrome
p.Ile470Leu Multiple submitters hereditary neoplastic syndrome
p.Ile532= Multiple submitters retinoblastoma
p.Leu152= Multiple submitters retinoblastoma
p.Leu191= Multiple submitters hereditary neoplastic syndrome
p.Leu199= Multiple submitters retinoblastoma
p.Leu206= Multiple submitters hereditary neoplastic syndrome
p.Leu220= Multiple submitters hereditary neoplastic syndrome
p.Leu229Phe Multiple submitters retinoblastoma
p.Leu303= Multiple submitters retinoblastoma
p.Leu335= Multiple submitters retinoblastoma
p.Leu487= Multiple submitters hereditary neoplastic syndrome
p.Leu569= Multiple submitters retinoblastoma
p.Leu60= Multiple submitters hereditary neoplastic syndrome
p.Leu743= Multiple submitters retinoblastoma
p.Leu819= Multiple submitters retinoblastoma
p.Leu819Val Multiple submitters hereditary neoplastic syndrome
p.Leu872= Multiple submitters retinoblastoma
p.Leu875= Multiple submitters retinoblastoma
p.Lys745= Multiple submitters hereditary neoplastic syndrome
p.Lys925= Multiple submitters hereditary neoplastic syndrome
p.Lys95= Multiple submitters hereditary neoplastic syndrome
p.Met386Val Multiple submitters retinoblastoma
p.Phe162Tyr Multiple submitters urinary bladder cancer
p.Phe293= Multiple submitters retinoblastoma
p.Pro23= Multiple submitters hereditary neoplastic syndrome
p.Pro25= Multiple submitters hereditary neoplastic syndrome
p.Pro26= Multiple submitters hereditary neoplastic syndrome
p.Pro43= Multiple submitters hereditary neoplastic syndrome
p.Pro568= Multiple submitters hereditary neoplastic syndrome
p.Pro674= Multiple submitters hereditary neoplastic syndrome
p.Pro783= Multiple submitters hereditary neoplastic syndrome
p.Pro812= Multiple submitters retinoblastoma
p.Pro820= Multiple submitters retinoblastoma
p.Ser114= Multiple submitters hereditary neoplastic syndrome
p.Ser114Leu Multiple submitters hereditary neoplastic syndrome
p.Ser187= Multiple submitters retinoblastoma
p.Ser37= Multiple submitters retinoblastoma
p.Ser397= Multiple submitters retinoblastoma
p.Ser469= Multiple submitters retinoblastoma
p.Ser485= Multiple submitters hereditary neoplastic syndrome
p.Ser588= Multiple submitters retinoblastoma
p.Ser644= Multiple submitters retinoblastoma
p.Ser648= Multiple submitters retinoblastoma
p.Ser758= Multiple submitters hereditary neoplastic syndrome
p.Ser758Leu Multiple submitters retinoblastoma
p.Ser794= Multiple submitters retinoblastoma
p.Ser895= Multiple submitters hereditary neoplastic syndrome
p.Thr12= Multiple submitters hereditary neoplastic syndrome
p.Thr183= Multiple submitters hereditary neoplastic syndrome
p.Thr307= Multiple submitters hereditary neoplastic syndrome
p.Thr307Ile Multiple submitters hereditary neoplastic syndrome
p.Thr377Ser Multiple submitters hereditary retinoblastoma
p.Thr408= Multiple submitters hereditary neoplastic syndrome
p.Thr497= Multiple submitters hereditary neoplastic syndrome
p.Thr502= Multiple submitters hereditary neoplastic syndrome
p.Thr52= Multiple submitters hereditary neoplastic syndrome
p.Thr52Ile Multiple submitters hereditary neoplastic syndrome
p.Thr583= Multiple submitters retinoblastoma
p.Thr58Ile Multiple submitters hereditary neoplastic syndrome
p.Thr620= Multiple submitters hereditary neoplastic syndrome
p.Thr625= Multiple submitters hereditary neoplastic syndrome
p.Thr630Ala Multiple submitters retinoblastoma
p.Thr633Ile Multiple submitters hereditary neoplastic syndrome
p.Thr638= Multiple submitters hereditary neoplastic syndrome
p.Thr664= Multiple submitters retinoblastoma
p.Thr687= Multiple submitters hereditary retinoblastoma
p.Thr738= Multiple submitters retinoblastoma
p.Thr778= Multiple submitters retinoblastoma
p.Thr821= Multiple submitters hereditary neoplastic syndrome
p.Tyr292= Multiple submitters hereditary neoplastic syndrome
p.Tyr321= Multiple submitters hereditary neoplastic syndrome
p.Tyr498= Multiple submitters retinoblastoma
p.Tyr709= Multiple submitters retinoblastoma
p.Tyr790= Multiple submitters hereditary neoplastic syndrome
p.Tyr91Cys Multiple submitters hereditary neoplastic syndrome
p.Val190= Multiple submitters hereditary neoplastic syndrome
p.Val439= Multiple submitters retinoblastoma
p.Val45= Multiple submitters hereditary neoplastic syndrome

Likely benign 1044

Showing the top 300 by review status; the full set is in the sitemap.

c.1049+10A>G Multiple submitters retinoblastoma
c.1050-11T>C Multiple submitters retinoblastoma
c.1050-15C>T Multiple submitters retinoblastoma
c.1050-9G>A Multiple submitters retinoblastoma
c.1127+17T>C Multiple submitters retinoblastoma
c.1127+7A>C Multiple submitters retinoblastoma
c.1128-11A>G Multiple submitters retinoblastoma
c.1128-6C>T Multiple submitters retinoblastoma
c.1216-4A>G Multiple submitters hereditary neoplastic syndrome
c.1216-6C>T Multiple submitters retinoblastoma
c.1216-7C>T Multiple submitters retinoblastoma
c.1216-8T>C Multiple submitters retinoblastoma
c.1216-9C>T Multiple submitters retinoblastoma
c.1332+15T>C Multiple submitters retinoblastoma
c.1333-15TTTG[2] Multiple submitters retinoblastoma
c.1333-16T>C Multiple submitters retinoblastoma
c.1333-18del Multiple submitters retinoblastoma
c.1333-7T>C Multiple submitters retinoblastoma
c.137+12G>C Multiple submitters retinoblastoma
c.137+14G>A Multiple submitters retinoblastoma
c.137+7G>T Multiple submitters retinoblastoma
c.137+94C>T Multiple submitters hereditary retinoblastoma
c.138-4G>A Multiple submitters retinoblastoma
c.138-6T>C Multiple submitters retinoblastoma
c.138-8T>C Multiple submitters retinoblastoma
c.1390-10T>C Multiple submitters retinoblastoma
c.1390-9C>G Multiple submitters retinoblastoma
c.1422-6C>T Multiple submitters retinoblastoma
c.1422-8T>C Multiple submitters retinoblastoma
c.1422-9T>C Multiple submitters retinoblastoma
c.1498+10A>C Multiple submitters retinoblastoma
c.1498+73G>A Multiple submitters
c.1499-10T>C Multiple submitters retinoblastoma
c.1499-15T>C Multiple submitters retinoblastoma
c.1499-17T>C Multiple submitters retinoblastoma
c.1499-8A>G Multiple submitters retinoblastoma
c.1499-8A>T Multiple submitters retinoblastoma
c.1696-11G>A Multiple submitters retinoblastoma
c.1696-13A>G Multiple submitters retinoblastoma
c.1696-6A>T Multiple submitters retinoblastoma
c.1696-7C>T Multiple submitters retinoblastoma
c.1815-12A>G Multiple submitters retinoblastoma
c.1815-13T>C Multiple submitters retinoblastoma
c.1815-4C>T Multiple submitters hereditary neoplastic syndrome
c.1815-8A>C Multiple submitters retinoblastoma
c.1815-9T>C Multiple submitters retinoblastoma
c.1960+10T>A Multiple submitters retinoblastoma
c.1961-15T>C Multiple submitters retinoblastoma
c.1961-6C>A Multiple submitters retinoblastoma
c.2106+17C>A Multiple submitters retinoblastoma
c.2106+17C>G Multiple submitters retinoblastoma
c.2106+20C>T Multiple submitters retinoblastoma
c.2107-12T>C Multiple submitters retinoblastoma
c.2107-15C>A Multiple submitters retinoblastoma
c.2107-17A>T Multiple submitters retinoblastoma
c.2107-18C>T Multiple submitters retinoblastoma
c.2211+15A>G Multiple submitters retinoblastoma
c.2211+7A>G Multiple submitters retinoblastoma
c.2212-13T>C Multiple submitters retinoblastoma
c.2212-14C>A Multiple submitters retinoblastoma
c.2212-17T>A Multiple submitters hereditary retinoblastoma
c.2325+10A>G Multiple submitters retinoblastoma
c.2326-4C>G Multiple submitters hereditary neoplastic syndrome
c.2326-4C>T Multiple submitters hereditary neoplastic syndrome
c.2326-7G>A Multiple submitters retinoblastoma
c.2489+7G>A Multiple submitters retinoblastoma
c.2490-10A>C Multiple submitters retinoblastoma
c.2490-14T>C Multiple submitters retinoblastoma
c.2521-12T>C Multiple submitters retinoblastoma
c.2521-18G>A Multiple submitters retinoblastoma
c.2521-18G>T Multiple submitters retinoblastoma
c.2521-9A>C Multiple submitters retinoblastoma
c.264+20G>A Multiple submitters retinoblastoma
c.265-15A>G Multiple submitters retinoblastoma
c.2663+10A>G Multiple submitters retinoblastoma
c.2663+16G>A Multiple submitters retinoblastoma
c.2663+8C>A Multiple submitters retinoblastoma
c.2663+8C>G Multiple submitters retinoblastoma
c.2664-182A>G Multiple submitters
c.2664-4G>A Multiple submitters hereditary neoplastic syndrome
c.2713+17C>A Multiple submitters retinoblastoma
c.2714-10C>T Multiple submitters retinoblastoma
c.2714-13A>G Multiple submitters retinoblastoma
c.2714-14C>T Multiple submitters retinoblastoma
c.2714-20G>C Multiple submitters retinoblastoma
c.2714-4C>T Multiple submitters hereditary neoplastic syndrome
c.381-4G>T Multiple submitters hereditary neoplastic syndrome
c.501-15T>C Multiple submitters retinoblastoma
c.501-17_501-15del Multiple submitters retinoblastoma
c.501-19A>G Multiple submitters retinoblastoma
c.501-38G>A Multiple submitters hereditary retinoblastoma
c.501-3C>T Multiple submitters retinoblastoma
c.501-9T>C Multiple submitters retinoblastoma
c.540-13A>G Multiple submitters retinoblastoma
c.540-13A>T Multiple submitters retinoblastoma
c.540-17_540-14del Multiple submitters retinoblastoma
c.540-9G>C Multiple submitters retinoblastoma
c.608-10T>C Multiple submitters retinoblastoma
c.608-11T>C Multiple submitters retinoblastoma
c.608-12T>C Multiple submitters retinoblastoma
c.608-13A>C Multiple submitters retinoblastoma
c.608-13A>T Multiple submitters retinoblastoma
c.608-17G>A Multiple submitters retinoblastoma
c.608-9T>G Multiple submitters retinoblastoma
c.718+14T>A Multiple submitters retinoblastoma
c.718+35A>T Multiple submitters hereditary retinoblastoma
c.718+7A>G Multiple submitters retinoblastoma
c.719-11C>T Multiple submitters retinoblastoma
c.861+10C>G Multiple submitters retinoblastoma
c.861+16G>T Multiple submitters retinoblastoma
c.862-19G>C Multiple submitters retinoblastoma
c.862-20T>C Multiple submitters retinoblastoma
c.862-8T>C Multiple submitters retinoblastoma
c.939+11A>G Multiple submitters retinoblastoma
c.940-13T>C Multiple submitters retinoblastoma
c.940-17G>A Multiple submitters retinoblastoma
c.940-20A>G Multiple submitters retinoblastoma
p.Ala11= Multiple submitters retinoblastoma
p.Ala160= Multiple submitters hereditary neoplastic syndrome
p.Ala17= Multiple submitters hereditary neoplastic syndrome
p.Ala188= Multiple submitters hereditary neoplastic syndrome
p.Ala261= Multiple submitters hereditary neoplastic syndrome
p.Ala488= Multiple submitters hereditary neoplastic syndrome
p.Ala59= Multiple submitters hereditary neoplastic syndrome
p.Ala628= Multiple submitters hereditary neoplastic syndrome
p.Ala734= Multiple submitters hereditary neoplastic syndrome
p.Ala74= Multiple submitters retinoblastoma
p.Ala885= Multiple submitters hereditary neoplastic syndrome
p.Arg320= Multiple submitters hereditary neoplastic syndrome
p.Arg320Gln Multiple submitters hereditary neoplastic syndrome
p.Arg451= Multiple submitters hereditary neoplastic syndrome
p.Arg668= Multiple submitters retinoblastoma
p.Arg798= Multiple submitters retinoblastoma
p.Arg861= Multiple submitters hereditary neoplastic syndrome
p.Arg908= Multiple submitters hereditary neoplastic syndrome
p.Asn284= Multiple submitters hereditary neoplastic syndrome
p.Asn295= Multiple submitters hereditary neoplastic syndrome
p.Asn309= Multiple submitters retinoblastoma
p.Asn316= Multiple submitters hereditary neoplastic syndrome
p.Asn367= Multiple submitters hereditary neoplastic syndrome
p.Asn406= Multiple submitters hereditary neoplastic syndrome
p.Asn663= Multiple submitters hereditary neoplastic syndrome
p.Asn716= Multiple submitters hereditary neoplastic syndrome
p.Asn757= Multiple submitters hereditary neoplastic syndrome
p.Asn924= Multiple submitters retinoblastoma
p.Asp156= Multiple submitters hereditary neoplastic syndrome
p.Asp270= Multiple submitters hereditary neoplastic syndrome
p.Asp36Asn Multiple submitters hereditary neoplastic syndrome
p.Asp571= Multiple submitters hereditary neoplastic syndrome
p.Asp697= Multiple submitters retinoblastoma
p.Asp718= Multiple submitters hereditary neoplastic syndrome
p.Asp856= Multiple submitters retinoblastoma
p.Asp886= Multiple submitters retinoblastoma
p.Cys221= Multiple submitters hereditary neoplastic syndrome
p.Cys438= Multiple submitters retinoblastoma
p.Cys61= Multiple submitters hereditary neoplastic syndrome
p.Gln121= Multiple submitters hereditary neoplastic syndrome
p.Gln176= Multiple submitters retinoblastoma
p.Gln266= Multiple submitters retinoblastoma
p.Gln436= Multiple submitters retinoblastoma
p.Gln631= Multiple submitters hereditary neoplastic syndrome
p.Gln898= Multiple submitters hereditary neoplastic syndrome
p.Glu428= Multiple submitters hereditary neoplastic syndrome
p.Glu53= Multiple submitters hereditary neoplastic syndrome
p.Glu580= Multiple submitters hereditary neoplastic syndrome
p.Glu672= Multiple submitters hereditary neoplastic syndrome
p.Glu691= Multiple submitters retinoblastoma
p.Glu884= Multiple submitters retinoblastoma
p.Gly203= Multiple submitters hereditary neoplastic syndrome
p.Gly248= Multiple submitters hereditary neoplastic syndrome
p.Gly304= Multiple submitters retinoblastoma
p.Gly437= Multiple submitters hereditary neoplastic syndrome
p.Gly442= Multiple submitters hereditary neoplastic syndrome
p.Gly617= Multiple submitters hereditary neoplastic syndrome
p.Gly710= Multiple submitters hereditary neoplastic syndrome
p.Gly802= Multiple submitters hereditary neoplastic syndrome
p.Gly86= Multiple submitters hereditary neoplastic syndrome
p.His129= Multiple submitters hereditary neoplastic syndrome
p.His339= Multiple submitters retinoblastoma
p.His585= Multiple submitters hereditary neoplastic syndrome
p.His600= Multiple submitters hereditary neoplastic syndrome
p.His686= Multiple submitters hereditary neoplastic syndrome
p.Ile273= Multiple submitters hereditary neoplastic syndrome
p.Ile297= Multiple submitters hereditary neoplastic syndrome
p.Ile415Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile441= Multiple submitters hereditary neoplastic syndrome
p.Ile536= Multiple submitters hereditary neoplastic syndrome
p.Ile573= Multiple submitters hereditary neoplastic syndrome
p.Ile680= Multiple submitters retinoblastoma
p.Ile711= Multiple submitters hereditary neoplastic syndrome
p.Ile744= Multiple submitters hereditary neoplastic syndrome
p.Ile753= Multiple submitters hereditary neoplastic syndrome
p.Ile799= Multiple submitters hereditary neoplastic syndrome
p.Leu120= Multiple submitters hereditary neoplastic syndrome
p.Leu134= Multiple submitters hereditary neoplastic syndrome
p.Leu158= Multiple submitters hereditary neoplastic syndrome
p.Leu165= Multiple submitters retinoblastoma
p.Leu189= Multiple submitters hereditary neoplastic syndrome
p.Leu212= Multiple submitters retinoblastoma
p.Leu229= Multiple submitters hereditary neoplastic syndrome
p.Leu234= Multiple submitters hereditary neoplastic syndrome
p.Leu326= Multiple submitters retinoblastoma
p.Leu331= Multiple submitters hereditary neoplastic syndrome
p.Leu362= Multiple submitters retinoblastoma
p.Leu400= Multiple submitters hereditary neoplastic syndrome
p.Leu42= Multiple submitters hereditary neoplastic syndrome
p.Leu44= Multiple submitters hereditary neoplastic syndrome
p.Leu452= Multiple submitters hereditary neoplastic syndrome
p.Leu468= Multiple submitters hereditary neoplastic syndrome
p.Leu477= Multiple submitters hereditary neoplastic syndrome
p.Leu506= Multiple submitters hereditary neoplastic syndrome
p.Leu512= Multiple submitters hereditary neoplastic syndrome
p.Leu550= Multiple submitters hereditary neoplastic syndrome
p.Leu64= Multiple submitters hereditary neoplastic syndrome
p.Leu649= Multiple submitters hereditary neoplastic syndrome
p.Leu657= Multiple submitters hereditary neoplastic syndrome
p.Leu688= Multiple submitters hereditary neoplastic syndrome
p.Leu769= Multiple submitters hereditary neoplastic syndrome
p.Leu797= Multiple submitters hereditary neoplastic syndrome
p.Leu809= Multiple submitters hereditary neoplastic syndrome
p.Leu859= Multiple submitters hereditary neoplastic syndrome
p.Leu98= Multiple submitters hereditary neoplastic syndrome
p.Lys240= Multiple submitters hereditary neoplastic syndrome
p.Lys475= Multiple submitters hereditary neoplastic syndrome
p.Lys577= Multiple submitters retinoblastoma
p.Lys715= Multiple submitters hereditary neoplastic syndrome
p.Lys729= Multiple submitters hereditary neoplastic syndrome
p.Lys80= Multiple submitters hereditary neoplastic syndrome
p.Lys928= Multiple submitters hereditary neoplastic syndrome
p.Phe132= Multiple submitters hereditary neoplastic syndrome
p.Phe162= Multiple submitters retinoblastoma
p.Phe226= Multiple submitters hereditary neoplastic syndrome
p.Phe514= Multiple submitters hereditary neoplastic syndrome
p.Phe528= Multiple submitters hereditary neoplastic syndrome
p.Phe636= Multiple submitters retinoblastoma
p.Phe684= Multiple submitters hereditary neoplastic syndrome
p.Phe839= Multiple submitters hereditary neoplastic syndrome
p.Pro20= Multiple submitters hereditary neoplastic syndrome
p.Pro238= Multiple submitters hereditary neoplastic syndrome
p.Pro24= Multiple submitters hereditary neoplastic syndrome
p.Pro245= Multiple submitters retinoblastoma
p.Pro27= Multiple submitters hereditary neoplastic syndrome
p.Pro29= Multiple submitters hereditary neoplastic syndrome
p.Pro298= Multiple submitters hereditary neoplastic syndrome
p.Pro33= Multiple submitters hereditary neoplastic syndrome
p.Pro370= Multiple submitters hereditary neoplastic syndrome
p.Pro371= Multiple submitters hereditary neoplastic syndrome
p.Pro374= Multiple submitters hereditary neoplastic syndrome
p.Pro39= Multiple submitters retinoblastoma
p.Pro411= Multiple submitters hereditary neoplastic syndrome
p.Pro515= Multiple submitters hereditary neoplastic syndrome
p.Pro55= Multiple submitters hereditary neoplastic syndrome
p.Pro613= Multiple submitters hereditary neoplastic syndrome
p.Pro67= Multiple submitters hereditary neoplastic syndrome
p.Pro776= Multiple submitters hereditary neoplastic syndrome
p.Pro777= Multiple submitters hereditary neoplastic syndrome
p.Pro796= Multiple submitters retinoblastoma
p.Pro808= Multiple submitters hereditary neoplastic syndrome
p.Pro827= Multiple submitters hereditary neoplastic syndrome
p.Pro868= Multiple submitters hereditary neoplastic syndrome
p.Pro868Thr Multiple submitters hereditary neoplastic syndrome
p.Pro869= Multiple submitters hereditary neoplastic syndrome
p.Ser178= Multiple submitters hereditary neoplastic syndrome
p.Ser308= Multiple submitters retinoblastoma
p.Ser402= Multiple submitters hereditary neoplastic syndrome
p.Ser499= Multiple submitters retinoblastoma
p.Ser501= Multiple submitters hereditary neoplastic syndrome
p.Ser612= Multiple submitters hereditary neoplastic syndrome
p.Ser751= Multiple submitters hereditary neoplastic syndrome
p.Ser773= Multiple submitters hereditary neoplastic syndrome
p.Ser855= Multiple submitters retinoblastoma
p.Ser862= Multiple submitters retinoblastoma
p.Ser882= Multiple submitters hereditary neoplastic syndrome
p.Thr12Ser Multiple submitters hereditary neoplastic syndrome
p.Thr142= Multiple submitters retinoblastoma
p.Thr168= Multiple submitters hereditary neoplastic syndrome
p.Thr241= Multiple submitters hereditary neoplastic syndrome
p.Thr252= Multiple submitters hereditary neoplastic syndrome
p.Thr271= Multiple submitters hereditary neoplastic syndrome
p.Thr345= Multiple submitters retinoblastoma
p.Thr5= Multiple submitters hereditary neoplastic syndrome
p.Thr630= Multiple submitters retinoblastoma
p.Thr645= Multiple submitters hereditary neoplastic syndrome
p.Thr682= Multiple submitters retinoblastoma
p.Thr77= Multiple submitters retinoblastoma
p.Thr841= Multiple submitters hereditary neoplastic syndrome
p.Tyr173= Multiple submitters hereditary neoplastic syndrome
p.Tyr529= Multiple submitters retinoblastoma
p.Tyr659= Multiple submitters hereditary neoplastic syndrome
p.Tyr692= Multiple submitters hereditary neoplastic syndrome
p.Tyr749= Multiple submitters hereditary neoplastic syndrome
p.Tyr756= Multiple submitters hereditary neoplastic syndrome
p.Val128= Multiple submitters retinoblastoma
p.Val222= Multiple submitters retinoblastoma
p.Val288= Multiple submitters hereditary neoplastic syndrome
p.Val450= Multiple submitters hereditary neoplastic syndrome
p.Val610= Multiple submitters hereditary neoplastic syndrome
p.Val654= Multiple submitters retinoblastoma
p.Val725= Multiple submitters retinoblastoma
p.Val759= Multiple submitters hereditary neoplastic syndrome

Uncertain significance 1759

Showing the top 300 by review status; the full set is in the sitemap.

c.1049+5T>G Multiple submitters hereditary neoplastic syndrome
c.1050-11T>G Multiple submitters urinary bladder cancer
c.1050-3T>G Multiple submitters hereditary neoplastic syndrome
c.1127+5G>A Multiple submitters retinoblastoma
c.137+3G>A Multiple submitters retinoblastoma
c.1695+5del Multiple submitters retinoblastoma
c.1696-3T>C Multiple submitters retinoblastoma
c.1815-10A>G Multiple submitters retinoblastoma
c.1815-3T>G Multiple submitters retinoblastoma
c.1960+6T>C Multiple submitters retinoblastoma
c.2211+4G>C Multiple submitters retinoblastoma
c.2211+4G>T Multiple submitters hereditary neoplastic syndrome
c.2325+3_2325+6delinsG Multiple submitters retinoblastoma
c.2325+5G>T Multiple submitters retinoblastoma
c.2489+4T>C Multiple submitters hereditary neoplastic syndrome
c.2489+5G>A Multiple submitters retinoblastoma
c.2489+5G>C Multiple submitters hereditary neoplastic syndrome
c.2490-10_2490-6del Multiple submitters hereditary neoplastic syndrome
c.381-3T>C Multiple submitters hereditary neoplastic syndrome
c.500+6_500+10del Multiple submitters retinoblastoma
c.539+1G>T Multiple submitters hereditary neoplastic syndrome
c.539+2dup Multiple submitters retinoblastoma
c.539+3A>G Multiple submitters hereditary neoplastic syndrome
c.719-2A>C Multiple submitters hereditary neoplastic syndrome
c.719-3C>T Multiple submitters hereditary neoplastic syndrome
c.861+5T>C Multiple submitters hereditary neoplastic syndrome
c.939+3A>G Multiple submitters retinoblastoma
c.939+5T>G Multiple submitters retinoblastoma
c.-100A>T Multiple submitters retinoblastoma
c.-11G>A Multiple submitters retinoblastoma
c.-151G>A Multiple submitters retinoblastoma
c.-153G>C Multiple submitters RB1-related disorder
c.-155G>C Multiple submitters retinoblastoma
c.-2T>G Multiple submitters retinoblastoma
c.-81G>A Multiple submitters retinoblastoma
p.Ala106Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala11_Thr12insAla Multiple submitters retinoblastoma
p.Ala11Gly Multiple submitters retinoblastoma ⚠
p.Ala11Thr Multiple submitters retinoblastoma ⚠
p.Ala11Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala14Leu Multiple submitters retinoblastoma
p.Ala16_Ala18dup Multiple submitters urinary bladder cancer
p.Ala160Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala17Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala17Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala17Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala18Thr Multiple submitters retinoblastoma ⚠
p.Ala242Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala242Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala264Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala333Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala431Thr Multiple submitters retinoblastoma ⚠
p.Ala433Thr Multiple submitters retinoblastoma ⚠
p.Ala488Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala490Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala496Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala589Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala59Pro Multiple submitters hereditary neoplastic syndrome
p.Ala59Thr Multiple submitters retinoblastoma ⚠
p.Ala602Glu Multiple submitters retinoblastoma ⚠
p.Ala603Thr Multiple submitters retinoblastoma ⚠
p.Ala628Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala632Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala635Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala635Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala74Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala74Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala863Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala885Glu Multiple submitters retinoblastoma
p.Ala902Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg167Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg167Ser Multiple submitters retinoblastoma ⚠
p.Arg251Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg254Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg255Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg259Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg259Thr Multiple submitters retinoblastoma ⚠
p.Arg259Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg262Gln Multiple submitters retinoblastoma ⚠
p.Arg272Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg320Leu Multiple submitters urinary bladder cancer ⚠
p.Arg355Ser Multiple submitters hereditary neoplastic syndrome
p.Arg376Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg418Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg445Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg451His Multiple submitters retinoblastoma ⚠
p.Arg455Gln Multiple submitters retinoblastoma
p.Arg467Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg467Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg500= Multiple submitters hereditary neoplastic syndrome
p.Arg500Ser Multiple submitters hereditary neoplastic syndrome
p.Arg552Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg556Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg611= Multiple submitters hereditary neoplastic syndrome
p.Arg611Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg611Lys Multiple submitters retinoblastoma ⚠
p.Arg661Gln Multiple submitters retinoblastoma ⚠
p.Arg668Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg71Lys Multiple submitters retinoblastoma ⚠
p.Arg71Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg73Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg763Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg775Lys Multiple submitters retinoblastoma ⚠
p.Arg787Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg7Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg857Leu Multiple submitters retinoblastoma ⚠
p.Arg876His Multiple submitters hereditary neoplastic syndrome
p.Asn247Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn258Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn269Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn295Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn309Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn328_Lys329del Multiple submitters hereditary neoplastic syndrome
p.Asn328His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn328Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn390His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn399Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn410Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn410Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn478Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn480Ser Multiple submitters retinoblastoma ⚠
p.Asn505Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn522His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn593Lys Multiple submitters retinoblastoma ⚠
p.Asn593Ser Multiple submitters retinoblastoma ⚠
p.Asn599Lys Multiple submitters retinoblastoma ⚠
p.Asn599Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn767Asp Multiple submitters retinoblastoma ⚠
p.Asp111Asn Multiple submitters retinoblastoma ⚠
p.Asp156Gly Multiple submitters retinoblastoma ⚠
p.Asp156His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp210Glu Multiple submitters hereditary neoplastic syndrome
p.Asp270Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp270Tyr Multiple submitters retinoblastoma ⚠
p.Asp270Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp32Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp32His Multiple submitters urinary bladder cancer ⚠
p.Asp338Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp346Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp346Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp41_Leu42insProGluGlnAspSerGlyProGluAsp Multiple submitters retinoblastoma
p.Asp41Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp41His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp41Tyr Multiple submitters retinoblastoma ⚠
p.Asp479Gly Multiple submitters urinary bladder cancer ⚠
p.Asp511Gly Multiple submitters retinoblastoma ⚠
p.Asp511His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp527Glu Multiple submitters retinoblastoma ⚠
p.Asp571Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp578Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp604Asn Multiple submitters retinoblastoma ⚠
p.Asp604Gly Multiple submitters retinoblastoma ⚠
p.Asp68Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp718Glu Multiple submitters retinoblastoma ⚠
p.Asp730Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp730His Multiple submitters retinoblastoma ⚠
p.Asp856Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp886Asn Multiple submitters retinoblastoma
p.Asp921Asn Multiple submitters retinoblastoma ⚠
p.Cys169Arg Multiple submitters retinoblastoma ⚠
p.Cys169Tyr Multiple submitters retinoblastoma ⚠
p.Cys283Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys438Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys438Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys489Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys489Trp Multiple submitters retinoblastoma ⚠
p.Cys553Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys590Gly Multiple submitters urinary bladder cancer ⚠
p.Cys666Arg Multiple submitters retinoblastoma ⚠
p.Cys666Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys666Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys712Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys853Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys853Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys853Tyr Multiple submitters B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) ⚠
p.Gln257Arg Multiple submitters retinoblastoma ⚠
p.Gln266Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln266dup Multiple submitters hereditary neoplastic syndrome
p.Gln266Lys Multiple submitters urinary bladder cancer ⚠
p.Gln354Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln35Glu Multiple submitters retinoblastoma ⚠
p.Gln444Lys Multiple submitters retinoblastoma ⚠
p.Gln471Arg Multiple submitters retinoblastoma ⚠
p.Gln597Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln597Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln62Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln631Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln639Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln689Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln736Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln762Lys Multiple submitters retinoblastoma ⚠
p.Gln912Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu112Lys Multiple submitters retinoblastoma ⚠
p.Glu119Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu119Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu125Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu166Gln Multiple submitters retinoblastoma ⚠
p.Glu204Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu209Gly Multiple submitters hereditary neoplastic syndrome
p.Glu280Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu287Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu30Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu322Lys Multiple submitters retinoblastoma ⚠
p.Glu323Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu352Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu40Lys Multiple submitters retinoblastoma ⚠
p.Glu413Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu413Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu428Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu458Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu465Lys Multiple submitters retinoblastoma ⚠
p.Glu466del Multiple submitters hereditary neoplastic syndrome
p.Glu48Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu492Lys Multiple submitters retinoblastoma ⚠
p.Glu51Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu533Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu533Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu533Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu539Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu53Ala Multiple submitters retinoblastoma ⚠
p.Glu554Gly Multiple submitters retinoblastoma ⚠
p.Glu629Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu675Asp Multiple submitters retinoblastoma ⚠
p.Glu677Lys Multiple submitters retinoblastoma ⚠
p.Glu746Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu747Lys Multiple submitters retinoblastoma ⚠
p.Glu748del Multiple submitters hereditary neoplastic syndrome
p.Glu748Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu817del Multiple submitters retinoblastoma
p.Glu837= Multiple submitters hereditary neoplastic syndrome
p.Glu880Ala Multiple submitters hereditary neoplastic syndrome
p.Glu926Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu926Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu927Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu927Gln Multiple submitters retinoblastoma ⚠
p.Glu97Gln Multiple submitters retinoblastoma ⚠
p.Gly100Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly203Arg Multiple submitters retinoblastoma ⚠
p.Gly203Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly203Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly256Arg Multiple submitters retinoblastoma ⚠
p.Gly38Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly437Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly437Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly442Ala Multiple submitters retinoblastoma ⚠
p.Gly540Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly540Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly581Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly617Arg Multiple submitters retinoblastoma ⚠
p.Gly818Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly840= Multiple submitters hereditary neoplastic syndrome
p.Gly840Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly881Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly881Arg Multiple submitters retinoblastoma ⚠
p.Gly887Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly893Val Multiple submitters bone osteosarcoma ⚠
p.Gly89Glu Multiple submitters urinary bladder cancer ⚠
p.Gly90Arg Multiple submitters retinoblastoma ⚠
p.His129Gln Multiple submitters retinoblastoma ⚠
p.His281Arg Multiple submitters hereditary neoplastic syndrome
p.His281Tyr Multiple submitters retinoblastoma ⚠
p.His339Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His339Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.His372Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.His549Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His555Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His555Tyr Multiple submitters retinoblastoma ⚠
p.His585Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.His673Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His673Tyr Multiple submitters retinoblastoma ⚠
p.His678Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His686Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.His69Asp Multiple submitters retinoblastoma ⚠
p.His784_Ile785insHis Multiple submitters hereditary neoplastic syndrome
p.His784Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.His784Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.His890Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile101Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile124Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile124Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile138Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile172Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile172Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile172Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile172Val Multiple submitters retinoblastoma ⚠
p.Ile185Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile185Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile227Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile244Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile273Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile285Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile285Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile285Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile297Leu Multiple submitters urinary bladder cancer ⚠
p.Ile297Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile297Thr Multiple submitters retinoblastoma ⚠
p.Ile324Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile324Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile382Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile388_Leu389dup Multiple submitters hereditary neoplastic syndrome