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LOVD - Variant listings for MSH2

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105 entries
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Exon Hide Exon column Descending
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DNA change   Descending
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RNA change Hide RNA change column Descending
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Protein Hide Protein column Descending
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MAPP/PP2 Prior P Hide MAPP/PP2 Prior P column Descending
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Prior P Hide Prior P column Descending
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IARC Classification Hide IARC Classification column Descending
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InSiGHT Classification Hide InSiGHT Classification column Descending
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Tumour Char LR Hide Tumour Char LR column Descending
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Segregation LR Hide Segregation LR column Descending
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Odds for causality Hide Odds for causality column Descending
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Posterior P Hide Posterior P column Descending
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Reference Hide Reference column Descending
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Variant remarks Hide Variant remarks column Descending
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Technique Hide Technique column Descending
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1 c.6G>T r.(?) p.(=) - 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.100 0.696 0.070 0.0077 Thompson et al., 2013 - DNA SEQ
1 c.23C>T r.23c>u p.Thr8Met 0.001 0.100 Class 1: Not pathogenic Class 1: Not pathogenic 0.001 0.113 1.13E-04 1.26E-05 Thompson et al., 2014, InSiGHT - DNA SEQ
1 c.138C>G r.(?) p.(His46Gln) 0.740 0.740 Class 3: Uncertain Class 3: Uncertain 0.100 - 0.100 0.2216 Thompson et al., 2014, InSiGHT - DNA SEQ
1i c.212-1G>A r.spl? p.? - 0.960 Class 5: Pathogenic Class 5: Pathogenic 8.660 1.750 15.158 0.9973 Thompson et al., 2014, InSiGHT - DNA SEQ
2 c.277C>T r.(?) p.(Leu93Phe) 0.691 0.691 Class 4: Likely pathogenic Class 4: Likely pathogenic 6.960 1.843 12.828 0.9663 Thompson et al., 2014, InSiGHT - DNA SEQ
2 c.279_281del r.279_281del p.Leu94del - 0.604 Class 1: Not pathogenic Class 1: Not pathogenic 0.010 0.065 0.001 0.0010 Thompson et al., 2014, InSiGHT - DNA SEQ
2 c.287G>A r.(?) p.(Arg96His) 0.079 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic - 0.059 0.059 0.0065 Thompson et al., 2014, InSiGHT - DNA SEQ
2 c.301_306del r.(?) p.(Glu101_Val102del) - 0.703 Class 4: Likely pathogenic Class 4: Likely pathogenic 8.660 - 8.660 0.9535 Thompson et al., 2014, InSiGHT - DNA SEQ
2 c.317G>A r.(?) p.(Arg106Lys) 1.74E-04 0.100 Class 1: Not pathogenic Class 1: Not pathogenic 0.100 0.065 0.006 0.0007 Thompson et al., 2014, InSiGHT - DNA SEQ
2 c.339G>A r.339g>a p.= - 0.100 Class 1: Not pathogenic Class 1: Not pathogenic 0.004 0.119 4.75E-04 0.0001 Thompson et al., 2013 - DNA SEQ
2 c.965G>A r.965g>a p.Gly322Asp 0.003 0.100 Class 1: Not pathogenic Class 1: Not pathogenic 4.45E-13 1.023 4.56E-13 5.06E-14 Thompson et al., 2014, InSiGHT - DNA SEQ
3 c.304G>A r.[302_306del, 304g>a] p.[Glu101Valfs*14, Glu102Lys] 0.013 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.040 - 0.040 0.0044 Thompson et al., 2014, InSiGHT - DNA SEQ
3 c.380A>T r.(?) p.(Asn127Ile) 0.844 0.844 Class 3: Uncertain Class 3: Uncertain - 0.294 0.294 0.6141 Thompson et al., 2014, InSiGHT - DNA SEQ
3 c.435T>G r.(=) p.(Ile145Met) 0.005 0.100 Class 3: Uncertain Class 3: Uncertain 8.660 0.972 8.419 0.4833 Thompson et al., 2014, InSiGHT - DNA SEQ
3 c.484G>A r.484g>a p.Gly162Arg 0.962 0.900 Class 5: Pathogenic Class 5: Pathogenic 8.660 2.663 23.061 0.9952 Thompson et al., 2014, InSiGHT - DNA SEQ
3 c.488T>A r.(?) p.(Val163Asp) 0.963 0.900 Class 5: Pathogenic Class 5: Pathogenic 74.996 - 74.996 0.9985 Thompson et al., 2014, InSiGHT - DNA SEQ
3 c.488T>G r.(?) p.(Val163Gly) 0.422 0.422 Class 5: Pathogenic Class 5: Pathogenic 0.606 8376.7 5072.3 0.9997 InSiGHT - DNA SEQ
3 c.490G>A r.(?) p.(Gly164Arg) 0.952 0.900 Class 5: Pathogenic Class 5: Pathogenic 6.960 3.940 27.419 0.9960 Thompson et al., 2014, InSiGHT - DNA SEQ
3 c.493T>G r.(?) p.(Tyr165Asp) 0.182 0.182 Class 4: Likely pathogenic Class 4: Likely pathogenic 75.00 1.935 145.12 0.9699 InSiGHT - DNA SEQ
3 c.499G>C r.(?) p.(Asp167His) 0.869 0.869 Class 3: Uncertain Class 3: Uncertain 0.040 - 0.040 0.2090 Thompson et al., 2014, InSiGHT - DNA SEQ
3 c.505A>G r.(?) p.(Ile169Val) 0.002 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.866 0.068 0.059 0.0065 Thompson et al., 2014, InSiGHT - DNA SEQ
3 c.560T>C r.(?) p.(Leu187Pro) 0.960 0.900 Class 5: Pathogenic Class 5: Pathogenic 6.960 12.441 86.588 0.9987 Thompson et al., 2014, InSiGHT - DNA SEQ
3 c.560T>G r.560u>g p.Leu187Arg 0.952 0.900 Class 5: Pathogenic Class 5: Pathogenic 6.960 3.514 24.460 0.9955 Thompson et al., 2014, InSiGHT - DNA SEQ
3 c.561_569del r.(?) p.(Glu188_Leu190del) - 0.900 Class 5: Pathogenic Class 5: Pathogenic - 86.723 86.723 0.9987 InSiGHT - DNA SEQ
3 c.571_573del r.(?) p.(Leu191del) - 0.500 Class 5: Pathogenic Class 5: Pathogenic 11.780 19.810 233.300 0.9957 Thompson et al., 2013 - DNA SEQ
3 c.593A>G r.593a>g p.Glu198Gly 0.934 0.900 Class 1: Not pathogenic Class 1: Not pathogenic 6.40E-05 0.818 5.24E-05 0.0005 Thompson et al., 2014, InSiGHT - DNA SEQ
3 c.595T>C r.595u>c p.Cys199Arg 0.957 0.900 Class 5: Pathogenic Class 5: Pathogenic 6.960 16.560 115.258 0.9990 Thompson et al., 2014, InSiGHT - DNA SEQ
3 c.599T>A r.(?) p.(Val200Asp) 0.915403 0.9 Class 5: Pathogenic Class 5: Pathogenic 23.56 1.985 46.78 0.9976 InSiGHT - DNA SEQ
3i c.645+1G>A r.[367_645del, 492_645del] p.([Ala123_Gln215del, Tyr165*]) - 0.960 Class 5: Pathogenic Class 5: Pathogenic 11.780 7.870 92.700 0.9996 Thompson et al., 2013 - DNA SEQ
3'UTR c.*129T>C r.(?) p.(=) - 0.260 Class 1: Not pathogenic Class 1: Not pathogenic 0.003 0.793 0.002 0.0008 Thompson et al., 2013 - DNA SEQ
3'UTR c.*221G>T r.(?) p.(=) - 0.260 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.040 1.351 0.054 0.0186 Thompson et al., 2013 - DNA SEQ
3'UTR c.*226A>G r.(?) p.(=) 0.897 0.260 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.080 - 0.080 0.0273 Thompson et al., 2013 - DNA SEQ
5'UTR c.-78_-77del r.? p.(=) - 0.260 Class 4: Likely pathogenic Class 4: Likely pathogenic 48.442 5.160 249.939 0.9887 Thompson et al., 2014, InSiGHT - DNA SEQ
5 c.913G>A r.913g>a p.Ala305Thr 0.929 0.900 Class 3: Uncertain Class 3: Uncertain 0.100 0.520 0.052 0.3188 Thompson et al., 2014, InSiGHT - DNA SEQ
5 c.929T>C r.(?) p.(Leu310Pro) 0.961 0.900 Class 5: Pathogenic Class 5: Pathogenic 6.960 1.941 13.511 0.9918 Thompson et al., 2014, InSiGHT - DNA SEQ
5i c.942+2T>A r.793_942del p.(Val265_Gln314del) - 0.960 Class 5: Pathogenic Class 5: Pathogenic 8.660 - 8.660 0.9952 InSiGHT - DNA SEQ
5i c.942+3A>T r.793_942del p.Val265_Gln314del - 0.260 Class 5: Pathogenic Class 5: Pathogenic - 2.09E+04 2.09E+04 0.9999 Thompson et al., 2013 - DNA SEQ
6 c.984C>T r.(?) p.(=) - 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.346 - 0.346 0.0371 Thompson et al., 2014, InSiGHT - DNA SEQ
6 c.989T>C r.(?) p.(Leu330Pro) 0.961 0.900 Class 4: Likely pathogenic Class 4: Likely pathogenic 6.960 1.182 8.223 0.9867 Thompson et al., 2014, InSiGHT - DNA SEQ
6 c.991A>G r.991a>g p.Asn331Asp 0.757 0.757 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.040 0.400 0.016 0.0476 Thompson et al., 2014, InSiGHT - DNA SEQ
6 c.1012G>A r.[943_1076del, 1012g>a] p.[Gly315Ilefs*29, Gly338Arg] 0.962 0.900 Class 3: Uncertain Class 3: Uncertain 0.100 2.367 0.237 0.6805 Thompson et al., 2014, InSiGHT - DNA SEQ
6 c.1013G>A r.(?) p.(Gly338Glu) 0.959 0.900 Class 5: Pathogenic Class 5: Pathogenic 11.780 1.350 15.900 0.9931 Thompson et al., 2013 - DNA SEQ
6 c.1022T>C r.1022u>c p.Leu341Pro 0.961 0.900 Class 4: Likely pathogenic Class 4: Likely pathogenic - 6.629 6.629 0.9835 Thompson et al., 2014, InSiGHT - DNA SEQ
6 c.1046C>G r.(=) p.(Pro349Arg) 0.971 0.900 Class 5: Pathogenic Class 5: Pathogenic 75.0 1.24 92.99 0.9988 InSiGHT - DNA SEQ
6 c.1046C>T r.(?) p.(Pro349Leu) 0.927 0.900 Class 5: Pathogenic Class 5: Pathogenic 0.866 35.700 30.916 0.9964 Thompson et al., 2014, InSiGHT - DNA SEQ
6i c.1076+3A>T r.(?) p.(=) - 0.260 Class 3: Uncertain Class 3: Uncertain - 12.422 12.422 0.8136 Thompson et al., 2014, InSiGHT - DNA SEQ
6i c.1077-2A>C r.(spl?) p.? - 0.96 Class 5: Pathogenic Class 5: Pathogenic 8.66 - 8.66 0.9952 InSiGHT - DNA SEQ
6i c.1077-2A>G r.spl? p.? - 0.960 Class 4: Likely pathogenic Class 4: Likely pathogenic - 1.738 1.738 0.9766 Thompson et al., 2014, InSiGHT - DNA SEQ
7 c.1077A>T r.1077a>u p.Arg359Ser 0.884 0.884 Class 5: Pathogenic Class 5: Pathogenic 3.65E+06 12.139 4.43E+07 1.0000 Thompson et al., 2014, InSiGHT - DNA SEQ
7 c.1168C>T r.1168c>u p.Leu390Phe 0.112 0.112 Class 1: Not pathogenic Class 1: Not pathogenic 1.55E-07 0.276 4.27E-08 5.40E-09 Thompson et al., 2014, InSiGHT - DNA SEQ
7 c.1249_1251dup r.(?) p.(Val417dup) 0.893 0.893 Class 5: Pathogenic Class 5: Pathogenic 6.96 7.423 51.67 0.9952 InSiGHT - DNA SEQ
7 c.1255C>A r.(?) p.(Gln419Lys) 0.002 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.035 - 0.035 0.0038 Thompson et al., 2014, InSiGHT - DNA SEQ
7 c.1275A>G r.[1229_1276del, =] p.[=, Ile411_Gly426del] - 0.100 Class 3: Uncertain Class 3: Uncertain - 0.926 0.926 0.0933 Thompson et al., 2014, InSiGHT - DNA SEQ
7i c.1276+1G>A r.1229_1276del p.(Ile411_Gly426del) - 0.960 Class 5: Pathogenic Class 5: Pathogenic - 5.520 5.520 0.9925 Thompson et al., 2014, InSiGHT - DNA SEQ
8 c.1319T>C r.(?) p.(Leu440Pro) 0.956 0.900 Class 5: Pathogenic Class 5: Pathogenic 6.960 1.900 13.224 0.9917 Thompson et al., 2014, InSiGHT - DNA SEQ
8i c.1387-9T>A r.1386_1387ins1387-7_1387-1 p.Val463Phefs*7 - 0.260 Class 5: Pathogenic Class 5: Pathogenic 75.000 25.11 1883.4 0.9984 InSiGHT - DNA SEQ
8i c.1387-8G>T r.= p.= - 0.260 Class 2: Likely not pathogenic Class 2: Likely not pathogenic - 0.077 0.077 0.0264 Thompson et al., 2014, InSiGHT - DNA SEQ
9 c.1409T>G r.(?) p.(Val470Gly) 0.725657 0.726 Class 4: Likely pathogenic Class 4: Likely pathogenic 12.81 - 12.81 0.971 InSiGHT - DNA SEQ
10 c.1571G>T r.(?) p.(Arg524Leu) 0.852 0.852 Class 3: Uncertain Class 3: Uncertain 0.1 3.718 0.3718 0.681 InSiGHT - DNA SEQ
10i c.1661+6C>T r.= p.= - 0.260 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.100 - 0.100 0.0339 Thompson et al., 2014, InSiGHT - DNA SEQ
10i c.1662-9G>A r.= p.= - 0.260 Class 1: Not pathogenic Class 1: Not pathogenic 2.80E-12 - 2.80E-12 9.85E-13 Thompson et al., 2013 - DNA SEQ
11 c.1666T>C r.1666u>c p.= - 0.100 Class 1: Not pathogenic Class 1: Not pathogenic 5.86E-06 - 5.86E-06 1.00E-06 Thompson et al., 2013 - DNA SEQ
11 c.1690A>G r.(=) p.(Thr564Ala) 0.004 0.100 Class 1: Not pathogenic Class 1: Not pathogenic 0.002 - 0.002 0.0002 Thompson et al., 2014, InSiGHT - DNA SEQ
11 c.1730T>C r.(?) p.(Ile577Thr) 0.325 0.325 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.100 0.898 0.090 0.0414 Thompson et al., 2014, InSiGHT - DNA SEQ
11 c.1737A>G r.1737a>g p.= - 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic - 0.057 0.057 0.0063 Thompson et al., 2014, InSiGHT - DNA SEQ
11 c.1755T>C r.(?) p.(=) - 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic - 0.055 0.055 0.0061 Thompson et al., 2014, InSiGHT - DNA SEQ
11i c.1759+2T>A r.spl? p.? - 0.960 Class 5: Pathogenic Class 5: Pathogenic 6.960 1.900 13.224 0.9969 Thompson et al., 2014, InSiGHT - DNA SEQ
12 c.1786_1788del r.1786_1788del p.Asn596del - 0.212 Class 5: Pathogenic Class 5: Pathogenic - 2.53E+06 2.53E+06 1.0000 Thompson et al., 2014, InSiGHT - DNA SEQ
12 c.1787A>G r.1787a>g p.Asn596Ser 0.001 0.100 Class 3: Uncertain Class 3: Uncertain 74.996 0.905 67.864 0.8829 Thompson et al., 2014, InSiGHT - DNA SEQ
12 c.1807G>A r.(?) p.(Asp603Asn) 0.740 0.740 Class 3: Uncertain Class 3: Uncertain - 3.547 3.547 0.9099 Thompson et al., 2014, InSiGHT - DNA SEQ
12 c.1808A>G r.(?) p.(Asp603Gly) 0.876 0.876 Class 4: Likely pathogenic Class 4: Likely pathogenic - 6.665 6.665 0.9792 Thompson et al., 2014, InSiGHT - DNA SEQ
12 c.1864C>A r.(?) p.(Pro622Thr) 0.831 0.831 Class 3: Uncertain Class 3: Uncertain - 1.930 1.930 0.9046 Thompson et al., 2014, InSiGHT - DNA SEQ
12 c.1865C>T r.1865c>u p.Pro622Leu 0.927 0.900 Class 5: Pathogenic Class 5: Pathogenic 75.000 6.71E+04 75.000 0.9985 Thompson et al., 2013 - DNA SEQ
12 c.1886A>G r.(?) p.(Gln629Arg) 0.001 0.100 Class 1: Not pathogenic Class 1: Not pathogenic 0.241 0.029 0.007 0.0008 Thompson et al., 2014, InSiGHT - DNA SEQ
12 c.1906G>C r.1906g>c p.Ala636Pro 0.045 0.100 Class 5: Pathogenic Class 5: Pathogenic 2.42E+11 4.142 1.00E+12 1.0000 Thompson et al., 2013 - DNA SEQ
12 c.1955C>A r.(?) p.(Pro652His) 0.665 0.665 Class 4: Likely pathogenic Class 4: Likely pathogenic 6.960 1.875 13.049 0.9629 Thompson et al., 2014, InSiGHT - DNA SEQ
12 c.1963G>A r.(?) p.(Val655Ile) 0.000452 0.1 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.08 - 0.08 0.0088 InSiGHT - DNA SEQ
12i c.2005+2T>C r.spl? p.? - 0.960 Class 5: Pathogenic Class 5: Pathogenic 6.960 3.763 26.188 0.9984 Thompson et al., 2014, InSiGHT - DNA SEQ
12i c.2005+8dup r.= p.= - 0.260 Class 3: Uncertain Class 2: Likely not pathogenic 1.840 - 1.840 0.3926 Thompson et al., 2013 - DNA SEQ
12i c.2006-36_2006-33dup r.(?) p.(=) - 0.260 Class 3: Uncertain Class 3: Uncertain - 1.000 1.000 0.2600 Thompson et al., 2013 - DNA SEQ
13 c.2009C>T r.(?) p.(Pro670Leu) 0.927 0.900 Class 3: Uncertain Class 3: Uncertain 0.100 - 0.100 0.4737 Thompson et al., 2014, InSiGHT - DNA SEQ
13 c.2020G>C r.(?) p.(Gly674Arg) 0.962 0.900 Class 4: Likely pathogenic Class 4: Likely pathogenic 8.660 - 8.660 0.9873 Thompson et al., 2014, InSiGHT - DNA SEQ
13 c.2021G>A r.(?) p.(Gly674Asp) 0.960 0.900 Class 4: Likely pathogenic Class 4: Likely pathogenic - 3.700 3.700 0.9708 Thompson et al., 2014, InSiGHT - DNA SEQ
13 c.2023A>G r.(?) p.(Lys675Glu) 0.904273 0.9 Class 5: Pathogenic Class 5: Pathogenic 8.66 2.05 17.74 0.9938 InSiGHT - DNA SEQ
13 c.2047G>A r.(?) p.(Gly683Arg) 0.962 0.900 Class 5: Pathogenic Class 5: Pathogenic 6.960 1.944 13.533 0.9919 Thompson et al., 2014, InSiGHT - DNA SEQ
13 c.2063T>G r.? p.(Met688Arg) 0.949 0.900 Class 5: Pathogenic Class 5: Pathogenic 8.660 10.000 86.600 0.9987 Thompson et al., 2014, InSiGHT - DNA SEQ
13 c.2074G>C r.(?) p.(Gly692Arg) 0.962 0.900 Class 4: Likely pathogenic Class 4: Likely pathogenic - 3.547 3.547 0.9696 Thompson et al., 2014, InSiGHT - DNA SEQ
13 c.2081T>C r.(?) p.(Phe694Ser) 0.856456 0.856 Class 5: Pathogenic Class 5: Pathogenic 75.0 22.26 1669.2 0.9999 InSiGHT - DNA SEQ
13 c.2087C>T r.2087c>u p.Pro696Leu 0.927 0.900 Class 5: Pathogenic Class 5: Pathogenic 6.960 1.900 13.224 0.9917 Thompson et al., 2014, InSiGHT - DNA SEQ
13 c.2089T>C r.2089u>c p.Cys697Arg 0.957 0.900 Class 5: Pathogenic Class 5: Pathogenic 8.660 12.327 106.753 0.9990 Thompson et al., 2014, InSiGHT - DNA SEQ
13 c.2090G>T r.2090g>u p.Cys697Phe 0.880 0.880 Class 5: Pathogenic Class 5: Pathogenic 48.442 7.447 360.745 0.9996 Thompson et al., 2014, InSiGHT - DNA SEQ
13 c.2154A>G r.2154a>g p.= - 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic - 0.053 0.053 0.0058 Thompson et al., 2014, InSiGHT - DNA SEQ
14 c.2235_2237dup r.(?) p.(Ile747dup) - 0.580 Class 3: Uncertain Class 3: Uncertain 1.840 - 1.840 0.7172 Thompson et al., 2014, InSiGHT - DNA SEQ
14 c.2236_2241del r.(?) p.(Ile746_Ile747del) - 0.742 Class 3: Uncertain Class 3: Uncertain - 3.763 3.763 0.9155 Thompson et al., 2014, InSiGHT - DNA SEQ
14 c.2251G>A r.2251g>a p.Gly751Arg 0.962 0.900 Class 5: Pathogenic Class 5: Pathogenic 8.660 6.300 54.558 0.9980 Thompson et al., 2014, InSiGHT - DNA SEQ
14 c.2287G>C r.(?) p.(Ala763Pro) 0.965319 0.9 Class 4: Likely pathogenic Class 4: Likely pathogenic 8.66 - 8.66 0.9873 InSiGHT - DNA SEQ
14 c.2437A>G r.(?) p.(Met813Val) 0.486 0.486 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.040 - 0.040 0.0365 Thompson et al., 2014, InSiGHT - DNA SEQ
15 c.2500G>A r.? p.(Ala834Thr) 0.428 0.428 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.004 0.982 0.004 0.0029 Thompson et al., 2014, InSiGHT - DNA SEQ
15 c.2516A>G r.(?) p.(His839Arg) 0.006 0.100 Class 3: Uncertain Class 3: Uncertain 6.960 - 6.960 0.4361 Thompson et al., 2014, InSiGHT - DNA SEQ
15 c.2579C>T r.(?) p.(Ser860Leu) 0.005 0.100 Class 2: Likely not pathogenic Class 2: Likely not pathogenic 0.346 - 0.346 0.0371 Thompson et al., 2014, InSiGHT - DNA SEQ
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Note: Direct classification on the basis of the prior probability alone is a misuse of the Bayesian integrated evaluation model, therefore the dynamic range of the prior probability (Prior P) has been truncated to a minimum of 0.10 and a maximum of 0.90 so that additional sources of information are required to reach posterior probabilities that alter clinical management of patients with variants.

Legend: [ MSH2 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. MAPP/PP2 Prior P: MAPP/PP2 Prior probability of pathogenicity Prior P: Prior probability of pathogenicity (used in Bayes Integrated Evaluation/Multifactorial Likelihood Analysis) IARC Classification: IARC Classification InSiGHT Classification: 5-tiered classification on the InSiGHT database Tumour Char LR: Tumour characteristics likelihood ratio Segregation LR: Segregation likelihood ratio Odds for causality: Product of LRs Posterior P: Posterior probability of pathogenicity Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Variant remarks: Variant remarks Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation.