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LOVD - Variant listings for BRCA2

974 entries
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Posterior P Hide Posterior P column Descending
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Key Observational Reference Hide Key Observational Reference column Descending
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Prior P reference Hide Prior P reference column Descending
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Missense analysis Prior P Hide Missense analysis Prior P column Descending
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Segregation LR Hide Segregation LR column Descending
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Pathology LR Hide Pathology LR column Descending
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Sum Family LR Hide Sum Family LR column Descending
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Co-occurrence LR Hide Co-occurrence LR column Descending
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case-control LR Hide case-control LR column Descending
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7 c.632-1G>A IVS7-1G>A - 0.999853152 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 95.32615552 2.20904496 - - - 210.5797634 -
8 c.663T>G 891T>G p.F221L 0.06609215 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 3.223734841 1.075678821 - 3.467703294 -
8 c.679G>A 907G>A p.A227T 0.00144229 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 0.04 0.02 0.04 - - 0.845804261 0.040984612 - 0.03466496 -
8 c.681T>C 909T>C p.A227A - - Parsons et al 2019 - 0.02 0.04 0.02 0.04 - - 0.869558814 1.024615386 - 0.890963339 -
8 c.681+1G>A IVS8+1G>A - 0.985467471 4 - Likely Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 1.9419 1.08 - - - 2.097252 -
8 c.681+9A>G IVS8+9A>G - - - Parsons et al 2019 - - - 0.02 0.02 - - 0.656275768 1.024615386 - 0.672430249 -
8 c.682-12_682-11del IVS8-12delTA - 0.201802426 3 - Uncertain Parsons et al 2019 - - - 0.02 0.34 - 0.37 1.146341562 1.157084926 - 0.49077338 -
8 c.682-13A>G IVS8-13A>G - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 1.066689585 1.075678821 - 1.147415395 -
8 c.682-1G>C IVS8-1G>C - - - Parsons et al 2019 - - 0.97 0.02 0.97 - - 1.394607003 1.024615386 - 1.428935792 -
9 c.694T>C 922T>C p.Y232H - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.823959877 1.049836689 - 0.865023309 -
9 c.707A>G 935A>G p.H236R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.106616322 1.024615386 - 1.13385611 -
9 c.710A>G 938A>G p.D237G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.491981128 1.024615386 - 0.504091433 -
9 c.752C>G 980C>G p.T251R - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.2525 1.06 - - - 1.32765 -
9 c.754G>A 982G>A p.D252N - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.580175601 1.024615386 - 0.594456847 -
9 c.793+1G>A IVS9+1G>A - - - Parsons et al 2019 - - 0.97 0.02 0.97 1.8618 1.07 0.920085257 1.049836689 - 1.924272713 -
9 c.793+1G>T IVS9+1G>T - - - Parsons et al 2019 - - 0.97 0.02 0.97 - - 1.66533572 1.049836689 - 1.748330538 -
9 c.794-11T>C IVS9-11T>C - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.892051732 1.129287087 - 1.007382502 -
9 c.794-4A>G IVS9-4A>G - - - Parsons et al 2019 - - 0.34 0.02 0.34 - - 1.237417811 1.024615386 - 1.267877327 -
10 c.800G>A 1028G>A p.G267E - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.1716 1.5753 0.34799931 1.405569136 - 0.902761918 -
10 c.811G>A 1039G>A p.G271R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.72 - - - 0.72 -
10 c.831T>G 1059T>G p.N277K 0.001303579 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.300997281 1.271931877 0.088775029 1.88183995 - 0.063958745 -
10 c.841G>A 1069G>A p.D281N 0.009685327 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.434804153 1.102157073 - 0.479222472 -
10 c.847A>G 1075A>G p.I283V - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.353124142 1.157084926 - 1.565679548 -
10 c.856T>C 1084T>C p.S286P - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.65667 0.716969651 1.371801717 - 0.645861342 -
10 c.887A>G 1115A>G p.Y296C - - Parsons et al 2019 - 0.02 - 0.02 0.3 0.9454 - 0.702986017 1.275289324 - 0.847561086 -
Exon Hide Exon column Descending
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DNA change   Descending
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BIC DNA change Hide BIC DNA change column Descending
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Protein change Hide Protein change column Descending
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Posterior P Hide Posterior P column Descending
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IARC Class Hide IARC Class column Descending
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Key Observational Reference Hide Key Observational Reference column Descending
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Prior P reference Hide Prior P reference column Descending
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Missense analysis Prior P Hide Missense analysis Prior P column Descending
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Pathology LR Hide Pathology LR column Descending
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Product of LRs Hide Product of LRs column Descending
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10 c.913G>A 1141G>A p.E305K - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.582372372 1.049836689 - 0.611395883 -
10 c.943T>A 1171T>A p.C315S - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.1235 1.1342 0.897578382 1.587291088 - 1.815480889 -
10 c.955A>G 1183A>G p.N319D - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.494226238 1.024615386 - 0.506391807 -
10 c.956A>C 1184A>C p.N319T 0.00040 1 - Not pathogenic or of no clinical significance Farrugia DJ et al., Cancer Research 68:3523-3531, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 0.048 - 6.61 0.062 - 0.01967 -
10 c.956A>G 1184A>G p.N319S 0.003419056 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.113924127 1.475618079 - 0.168108502 -
10 c.964A>C 1192A>C p.K322Q 0.03299733 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.3 0.180899989 - 0.239644554 1.836630592 - 0.079621053 -
10 c.978C>A 1206C>A p.S326R 0.00058 1 - Not pathogenic or of no clinical significance Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 - 3.61 7.92 0.001 - 0.02859 -
10 c.992A>T 1220A>T p.K331I - - Parsons et al 2019 - 0.02 - 0.02 0.02 0.5589 1.07 0.801601969 1.066624616 - 0.511314684 -
10 c.1006G>A 1234G>A p.A336T - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.695470032 1.024615386 - 0.712589295 -
10 c.1011C>G 1239C>G p.N337K - - Parsons et al 2019 - 0.02 - 0.02 0.02 0.9439 - - - - 0.9439 -
10 c.1012G>A 1240G>A p.A338T 0.069176124 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 3.304009595 1.102157073 - 3.641537542 -
10 c.1022G>T 1250G>T p.C341F - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.07985348 1.049836689 - 1.133669802 -
10 c.1033A>G 1261A>G p.K345E - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.666795446 1.024615386 - 0.683208873 -
10 c.1040A>G 1268A>G p.Q347R 0.00240288 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 3.768000046 - 0.310805619 0.10077972 - 0.1180247 -
10 c.1063G>A 1291G>A p.V355I - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.62046407 1.024615386 - 0.635737032 -
10 c.1096T>G 1324T>G p.L366V - - Parsons et al 2019 - 0.02 - 0.02 0.02 0.9391 1.07 - 1.025 - 1.029957925 -
10 c.1114C>A 1342 C>A p.N372H 0.00000 1 - Not pathogenic or of no clinical significance Farrugia DJ et al., Cancer Research 68:3523-3531, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 0.001 - - 0.0001 - 1.00000E-7 -
10 c.1123C>T 1351C>T p.P375S 0.00006 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 1 - 0.05495 0.05754 - 0.00316 -
10 c.1124C>T 1352C>T p.P375L 0.008262354 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 1.07 0.284963216 1.338845527 - 0.408228248 -
10 c.1127T>G 1355T>G p.F376C 0.009369584 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.44145148 1.049836689 - 0.46345196 -
10 c.1141G>A 1369G>A p.D381N - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.560574626 1.102157073 - 1.719998362 -
10 c.1144A>C 1372A>C p.K382Q 0.005082203 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.2503 - - - - 0.2503 -
10 c.1151C>T 1379C>T p.S384F 0.00042 1 - Not pathogenic or of no clinical significance Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 0.0987 - - 0.2104 - 0.02077 -
10 c.1166C>A 1394C>A p.P389Q 0.000287205 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.311636266 0.045171479 - 0.014077071 -
10 c.1166C>T 1394C>T p.P389L - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.62046407 1.075678821 - 0.667420059 -
Exon Hide Exon column Descending
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BIC DNA change Hide BIC DNA change column Descending
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Protein change Hide Protein change column Descending
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Posterior P Hide Posterior P column Descending
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IARC Class Hide IARC Class column Descending
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Key Observational Reference Hide Key Observational Reference column Descending
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Missense analysis Prior P Hide Missense analysis Prior P column Descending
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Splicing prior P Hide Splicing prior P column Descending
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Other Prior P Hide Other Prior P column Descending
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Combined prior P Hide Combined prior P column Descending
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Segregation LR Hide Segregation LR column Descending
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Pathology LR Hide Pathology LR column Descending
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Co-occurrence LR Hide Co-occurrence LR column Descending
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10 c.1181A>C 1409A>C p.E394A 0.000915372 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.01613327 1.06 1.867717396 1.405569136 - 0.044894346 -
10 c.1219C>G 1447C>G p.Q407E - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.0065 1.06 - - - 1.06689 -
10 c.1225G>A 1453G>A p.E409K 0.001229074 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.05470977 1.102157073 - 0.060298759 -
10 c.1244A>G 1472A>G p.H415R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.192861895 1.157084926 - 1.380242517 -
10 c.1247T>G 1475T>G p.I416S 0.007493197 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.319716115 1.157084926 - 0.369938697 -
10 c.1295A>C 1523A>C p.E432A - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.71977202 1.049836689 - 0.755643074 -
10 c.1304G>A 1532G>A p.R435K - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.533219876 1.024615386 - 0.546345289 -
10 c.1319T>G 1547T>G p.L440R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.71977202 1.024615386 - 0.737489486 -
10 c.1325C>T 1553C>T p.S442L - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.11613805 1.024615386 - 1.143612219 -
10 c.1342C>T 1570C>T p.R448C 0.100881312 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - 1.76 2.699677429 1.157084926 - 5.497810664 -
10 c.1343G>A 1571G>A p.R448H - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.491981128 1.157084926 - 0.569263947 -
10 c.1354C>A 1582C>A p.L452I 0.001 1 - Not pathogenic or of no clinical significance Whiley PJ et al., PLoS One. 2014 Jan 28, 9(1):e86836. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.02 0.00 0.02 0.03 - - - - 0.03 -
10 c.1376T>C 1604T>C p.L459S - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.946171248 1.049836689 - 0.99332529 -
10 c.1385A>G 1613A>G p.E462G 0.00000 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 0.01514 - 0.04074 0.22909 - 0.00014 -
10 c.1427C>G 1655C>G p.S476C - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.714957389 1.075678821 - 0.769064521 -
10 c.1433C>A 1661C>A p.T478K 0.044441622 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 2.224169492 1.024615386 - 2.278918281 -
10 c.1435G>A 1663G>A p.D479N - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.31833358 1.024615386 - 1.35078487 -
10 c.1447G>A 1675G>A p.A483T 0.003549177 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.17033623 1.024615386 - 0.174529122 -
10 c.1460C>A 1688C>A p.A487E 0.002217306 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 1.9623 - 0.40138001 0.138249802 - 0.108889414 -
10 c.1463T>G 1691T>G p.I488R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.580706731 1.024615386 - 0.595001051 -
10 c.1466C>G 1694C>G p.S489C 0.001082888 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 1.1029 0.7062 1.213037039 0.056222773 - 0.053119035 -
10 c.1478C>T 1706C>T p.P493L - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.6072 - - - 0.6072 -
10 c.1498G>C 1726G>C p.G500R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.935469836 1.024615386 - 1.983112172 -
10 c.1514T>C
  (Reported 2 times)		 1742T>C p.I505T 0.004 2 - Likely not pathogenic or of little clinical significance Whiley PJ et al., PLoS One. 2014 Jan 28, 9(1):e86836. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.02 0.00 0.02 0.16 1.2 - - - 0.19 -
10 c.1538A>G 1766A>G p.K513R 0.00019 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 1 - 0.18197 0.05129 - 0.00933 -
Exon Hide Exon column Descending
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DNA change   Descending
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BIC DNA change Hide BIC DNA change column Descending
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Protein change Hide Protein change column Descending
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Posterior P Hide Posterior P column Descending
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IARC Class Hide IARC Class column Descending
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Key Observational Reference Hide Key Observational Reference column Descending
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Prior P reference Hide Prior P reference column Descending
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Missense analysis Prior P Hide Missense analysis Prior P column Descending
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Other Prior P Hide Other Prior P column Descending
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Segregation LR Hide Segregation LR column Descending
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Pathology LR Hide Pathology LR column Descending
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Sum Family LR Hide Sum Family LR column Descending
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Co-occurrence LR Hide Co-occurrence LR column Descending
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case-control LR Hide case-control LR column Descending
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10 c.1550A>G
  (Reported 2 times)		 1778A>G p.N517S 0.0254 2 - Likely not pathogenic or of little clinical significance Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 - 0.442 2.89 - - 1.27738 -
10 c.1564G>C 1792G>C p.G522R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.69 1.035637517 1.244651749 - 0.889415553 -
10 c.1630A>G 1858A>G p.T544A 0.101718471 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 5.034309834 1.102157073 - 5.548600189 -
10 c.1631C>T 1859C>T p.T544I - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.829711417 1.157084926 - 0.960046574 -
10 c.1640C>T 1868C>T p.S547L 0.080208181 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 4.170271545 1.024615386 - 4.272924388 -
10 c.1662T>G 1890T>G p.C554W 0.00000 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 0.0002 - 0.04898 1.99526 - 1.95456E-5 -
10 c.1666A>G 1894A>G p.N556D 0.123329679 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 6.254374525 1.102157073 - 6.893303117 -
10 c.1678A>G 1906A>G p.N560D - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.693350736 1.024615386 - 1.735033217 -
10 c.1730C>T 1958C>T p.A577V - - Parsons et al 2019 - 0.02 - 0.02 0.3 - 1.07 0.533219876 1.024615386 - 0.584589459 -
10 c.1744A>C 1972A>C p.T582P 0.00002 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 1 - 0.47863 0.00229 - 0.0011 -
10 c.1744A>G 1972A>G p.T582A - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.990922226 1.129287087 - 1.119035673 -
10 c.1762A>G
  (Reported 2 times)		 1990A>G p.N588D 0.0300 2 - Likely not pathogenic or of little clinical significance Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 - 0.732 2.07 - - 1.51524 -
10 c.1765A>C 1993A>C p.K589Q - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.653337939 1.024615386 - 0.669420104 -
10 c.1772T>C 2000T>C p.I591T 0.016360774 - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.776322802 1.049836689 - 0.815012159 -
10 c.1786G>C 2014G>C p.D596H 6.57589E-05 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.00304 1.06 - - - 0.0032224 -
10 c.1792A>G 2020A>G p.T598A 4.50975E-05 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.000296622 7.450145736 - - - 0.002209876 -
10 c.1796C>T 2024C>T p.S599F 0.000315326 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 3.2721192 0.004723496 - - - 0.015455841 -
10 c.1798T>C 2026T>C p.Y600H 0.006435994 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.309781167 1.024615386 - 0.31740655 -
10 c.1804G>A 2032G>A p.G602R 0.00000 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 0.00026 - 0.129 1.479 - 4.96057E-5 -
10 c.1805G>T 2032G>T p.G602V 0.123464908 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 6.574285546 1.049836689 - 6.901926167 -
10 c.1810A>G 2038A>G p.K604E 0.000415402 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.40400002 - 0.028119201 1.792507344 - 0.020363166 -
10 c.1814T>C 2042T>C p.I605T 0.002273459 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.098870616 1.129287087 - 0.11165331 -
10 c.1817C>A 2045C>A p.P606Q - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.561752801 1.049836689 - 0.5897487 -
10 c.1820A>C
  (Reported 2 times)		 2048A>C p.K607T 0.00528 2 - Likely not pathogenic or of little clinical significance Spurdle AB et al., J Clin Oncol, 26: 1657-1663, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 0.1866 1.2 - 1.1615 - 0.26008 -
10 c.1826A>G 2054A>G p.Q609R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.580175601 1.049836689 - 0.609089631 -
101 - 200
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Legend: [ BRCA2 full legend ]

Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. BIC DNA change: Variation at DNA-level, BIC format Protein change: Variation at protein level. Posterior P: Posterior probability IARC Class: IARC Class Key Observational Reference: Primary reference Prior P reference: Secondary reference Missense analysis Prior P: Align-GVGD prior probability Splicing prior P: Splicing prior probability Other Prior P: Custom Priors other than missense or splice (short legend) Combined prior P: Combined prior probability Segregation LR: Segregation likelihood ratio Pathology LR: Pathology likelihood ratio Sum Family LR: Summary Family History likelihood ratio Co-occurrence LR: Co-occurrence likelihood ratio case-control LR: case-control likelihood ratios from iCOGS (short legend) Product of LRs: Product of likelihood ratios Comments: alternate references, caveats, and additional information.

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