Gene Uniprot_Accession Variation Clinical_significance Review_status Chromosome Location PON-P2_predicted_probability_of_harmfulness DSC2 Q02487 R203C Likely pathogenic(Last reviewed: Nov 12, 2014) classified by single submitter 18 31089462 0.643 ACTG2 P63267 G269E Pathogenic classified by single submitter 2 73916584 - 73916585 0.661 TSC2 P49815 R611Q Pathogenic, not provided, other(Last reviewed: Aug 16, 2013) classified by single submitter 16 2070571 0.853 RYR1 P21817 R163C Pathogenic, not provided, risk factor(Last reviewed: Sep 17, 2013) classified by single submitter 19 38444211 0.703 ATM Q13315 V2424G Pathogenic, risk factor(Last reviewed: Nov 22, 2014) classified by multiple submitters 11 108329202 0.86 CYP17A1 P05093 R125Q Pathogenic(Last reviewed: Apr 30, 2015) classified by single submitter 10 102835316 0.907 TP53 P04637 P151S Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 17 7675161 0.858 TSHR P16473 L629F Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 14 81143945 0.256 TSHR P16473 F631L Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 14 81143949 0.339 KCNJ5 P48544 T158A Pathogenic(Last reviewed: Aug 26, 2014) classified by single submitter 11 128911745 0.737 PIK3CA P42336 H1047L Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 3 179234297 0.695 AKT1 P31749 E17K Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 14 104780214 0.794 HRAS|LRRC56 P01112 G12C Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 11 534289 0.789 HRAS|LRRC56 P01112 G12D Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 11 534288 0.976 KRAS P01116 G12V Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 12 25245350 0.719 PTPN11 Q06124 E76A Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 12 112450407 0.974 FGFR3 P22607 K650E Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 4 1806162 0.931 PTPN11 Q06124 E76K Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 12 112450406 0.98 PIK3CA P42336 C420R Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 3 179210192 0.884 FGFR2 P21802 S267P Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 10 121520119 0.868 PDGFRA P16234 V561D Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 4 54274869 0.92 PIK3CA P42336 E542K Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 3 179218294 0.739 FGFR3 P22607 G370C Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 4 1804362 0.942 FGFR2 P21802 Y375C Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 10 121515280 0.954 FGFR2 P21802 S252W Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 10 121520163 0.827 FGFR3 P22607 S249C Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 4 1801841 0.849 PIK3CA P42336 E545K Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 3 179218303 0.922 HRAS|LRRC56 P01112 G12S Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 11 534289 0.937 PIK3CA P42336 H1047R Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 3 179234297 0.802 SDHD O14521 P81L Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 11 112088939 0.479 FGFR3 P22607 G380R Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 4 1804392 0.913 HRAS|LRRC56 P01112 G12V Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 11 534288 0.973 FGFR3 P22607 R248C Pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 4 1801837 0.951 TGFBR2 P37173 R528H Pathogenic(Last reviewed: Aug 29, 2014) classified by multiple submitters 3 30691478 0.951 TNNI2 P48788 R174Q Pathogenic(Last reviewed: Dec 1, 2008) classified by single submitter 11 1841523 0.748 NRAS P01111 G12S Pathogenic(Last reviewed: Dec 2, 2013) classified by multiple submitters 1 114716127 0.878 SCN11A Q9UI33 R225C Pathogenic(Last reviewed: Dec 4, 2013) classified by single submitter 3 38925454 0.423 GLB1 P16278 R59H Pathogenic(Last reviewed: Feb 18, 2013) classified by multiple submitters 3 33072613 0.978 RET P07949 M918T Pathogenic(Last reviewed: Feb 18, 2015) classified by multiple submitters 10 43121968 0.964 BRCA2 P51587 R2336L Pathogenic(Last reviewed: Feb 20, 2013) classified by single submitter 13 32346896 0.283 NRAS P01111 G13D Pathogenic(Last reviewed: Jan 15, 2015) classified by multiple submitters 1 114716123 0.966 PTPN11 Q06124 D61G Pathogenic(Last reviewed: Jan 15, 2015) classified by multiple submitters 12 112450362 0.946 PTPN11 Q06124 E139D Pathogenic(Last reviewed: Jan 15, 2015) classified by multiple submitters 12 112453279 0.91 BRCA1 P38398 C61G Pathogenic(Last reviewed: Jan 28, 2015) classified by multiple submitters 17 43106487 0.784 ALB P02768 E594K Pathogenic(Last reviewed: Jun 6, 2012) classified by single submitter 4 73419634 0.331 BRAF P15056 G469R Pathogenic(Last reviewed: Mar 11, 2015) classified by multiple submitters 7 140781603 0.856 TERT O14746 R979W Pathogenic(Last reviewed: May 10, 2012) classified by single submitter 5 1260509 0.858 BRAF P15056 G464V Pathogenic(Last reviewed: May 3, 2011) classified by multiple submitters 7 140781617 0.979 SGCG|SACS Q13326 E263K Pathogenic(Last reviewed: May 30, 2013) classified by multiple submitters 13 23324452 0.693 BRAF P15056 L597V Pathogenic(Last reviewed: Nov 14, 2014) classified by multiple submitters 7 140753346 0.675 RB1 P06400 R661W Pathogenic(Last reviewed: Nov 18, 2013) classified by multiple submitters 13 48459708 0.986 NRAS P01111 G12D Pathogenic(Last reviewed: Nov 24, 2014) classified by multiple submitters 1 114716126 0.966 KRAS P01116 V14I Pathogenic(Last reviewed: Oct 10, 2014) classified by multiple submitters 12 25245345 0.614 FZD6 O60353 R511C Pathogenic(Last reviewed: Oct 3, 2012) classified by multiple submitters 8 103328406 0.983 BRAF P15056 V600E Pathogenic(Last reviewed: Oct 3, 2014) classified by multiple submitters 7 140753336 0.928 FGFR3 P22607 K650Q Pathogenic(Last reviewed: Sep 22, 2014) classified by multiple submitters 4 1806162 0.9 TP53 P04637 R273H Pathogenic(Last reviewed: Sep 29, 2014) classified by multiple submitters 17 7673802 0.85 EGFR|EGFR-AS1 P00533 T790M Pathogenic/Likely pathogenic, drug response(Last reviewed: Nov 11, 2014) classified by multiple submitters 7 55181378 0.932 BRCA1 P38398 R71G Pathogenic/Likely pathogenic, not provided(Last reviewed: Nov 13, 2014) classified by multiple submitters 17 43106457 0.749 TP53 P04637 P151T Pathogenic/Likely pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 17 7675161 0.804 BRAF P15056 G464E Pathogenic/Likely pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 7 140781617 0.99 PTPN11 Q06124 E76G Pathogenic/Likely pathogenic(Last reviewed: Aug 26, 2014) classified by multiple submitters 12 112450407 0.934 TP53 P04637 M246V Pathogenic/Likely pathogenic(Last reviewed: Jul 24, 2014) classified by multiple submitters 17 7674227 0.83 KCNJ5 P48544 G151R Pathogenic/Likely pathogenic(Last reviewed: Mar 16, 2015) classified by multiple submitters 11 128911724 0.99 KRAS P01116 G60V Pathogenic/Likely pathogenic(Last reviewed: May 13, 2014) classified by multiple submitters 12 25227345 0.913