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Variants

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Pathogenic
Pathogenic
Pathogenic, Likely Pathogenic, VUS
All mutations
Pathogenic, Likely Pathogenic, VUS or gMAX,eMAX<1% and is not intron|intergenic
All variants
Not intron or intergenic
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Genehg19TranscriptcDNAProteinFunctionLocalizationPathogenicityFrequency in gnomADgMAXProject
frequency
Exomes
frequency
BRCA1 chr17:41209079 T>TGNM_007294.3 c.5266dupCp.Q1756fs frameshift insexon Pathogenic 0.0004NFE 0.025380/3162 0.00223/1386 CHEK2 chr22:29121087 A>GNM_007194.3 c.470T>Cp.I157T missenseexon Likely pathogenic 0.0161NFE 0.022571/3162 0.016623/1384 CDH1 chr16:68844220 T>GNM_004360.4 c.808T>Gp.S270A missenseexon VUS 0.0018NFE 0.006320/3162 0.00436/1382 PMS2 chr7:6045600 C>GNM_000535.6 c.86G>Cp.G29A missenseexon VUS 0.0007NFE 0.004414/3162 0.007210/1386 MLH1 chr3:37067410 G>ANM_000249.3 c.1321G>Ap.A441T missenseexon VUS 0.0016NFE 0.003812/3162 0.00365/1386 BRCA1 chr17:41258504 A>CNM_007294.3 c.181T>Gp.C61G missenseexon Pathogenic 0.003511/3162 BRCA1 chr17:41215382 G>ANM_007294.3 c.5161C>Tp.Q1721X stop gainexon Pathogenic 0.00289/3162 BRCA1 chr17:41245586 CT>CNM_007294.3 c.1961delAp.K654fs frameshift delexon Pathogenic 0.00006673NFE 0.00289/3162 MLH1 chr3:37035032 C>TNM_000249.3 c.-7C>T 5'UTR VUS 0.0004NFE 0.00258/3162 0.00375/1350 CHEK2 chr22:29091856 AG>ANM_007194.3 c.1100delCp.T367fs frameshift delexon Pathogenic 0.0025NFE 0.00227/3162 BRCA1 chr17:41209095 G>ANM_007294.3 c.5251C>Tp.R1751X stop gainexon Pathogenic 0.0001AFR 0.00227/3162 MSH2 chr2:47635588 C>GNM_000251.2 c.260C>Gp.S87C missenseexon VUS 0.00006693NFE 0.00227/3162 0.00142/1384 BRCA1 chr17:41226348 C>TNM_007294.3 c.4675G>Ap.E1559K missenseexon Pathogenic 0.00006665NFE 0.00227/3162 BRCA2 chr13:32906576 C>CAANM_000059.3 c.961_962insAAp.Q321fs frameshift insexon Pathogenic 0.00196/3162 PALB2 chr16:23646274 CA>CNM_024675.3 c.1592delTp.L531fs frameshift delexon Pathogenic 0NFE 0.00196/3162 0.00071/1386 BRCA1 chr17:41243512 CT>CNM_007294.3 c.4035delAp.E1345fs frameshift delexon Pathogenic 0.0005NFE 0.00196/3162 CHEK2 chr22:29121230 C>TNM_007194.3 c.444+1G>A splicingsplice site Pathogenic 0.0002NFE 0.00196/3162 0.00223/1386 BRCA2 chr13:32912240 G>GANM_000059.3 c.3749dupAp.E1250fs frameshift insexon Pathogenic 0.00165/3162 MSH6 chr2:48025785 A>CNM_000179.2 c.663A>Cp.E221D missenseexon VUS 0.0009NFE 0.00165/3162 0.00071/1386 CHEK2 chr22:29099503 CAATAT>CNM_007194.3 c.893_897delp.Y298fs frameshift delexon Pathogenic 0.00165/3162 0.00071/1380 BRCA1 chr17:41276044 ACT>ANM_007294.3 c.68_69delp.E23fs frameshift delexon Pathogenic 0NFE 0.00134/3162 BRCA1 chr17:41243843 GTTTAC>GNM_007294.3 c.3700_3704delp.V1234fs frameshift delexon Pathogenic 0.00134/3162 RAD51B chr14:68352608 C>TNM_001321814.1 c.475C>Tp.R159C missenseexon Pathogenic 0.0001NFE 0.00134/3162 CDH1 chr16:68863582 G>ANM_004360.4 c.2321G>Ap.R774K missenseexon Likely pathogenic 0.00134/3162 BRCA2 chr13:32950929 G>ANM_000059.3 c.8754+1G>A splicingsplice site Pathogenic 0.00134/3162 ATM chr11:108183151 G>TNM_000051.3 c.5932G>Tp.E1978X stop gainexon Pathogenic 0.00134/3162 0.00071/1378 EPCAM chr2:47612302 C>GNM_002354.2 c.859-3C>G splicingsplice site VUS 0.0003NFE 0.00093/3162 0.00223/1386 CHEK2 chr22:29130389 A>TNM_007194.3 c.319+2T>A splicingsplice site Pathogenic 0.0006NFE 0.00093/3162 MLH1 chr3:37092067 A>GNM_000249.3 c.2194A>Gp.K732E missenseexon VUS 0.00093/3162 BRCA2 chr13:32911388 ACT>ANM_000059.3 c.2897_2898delp.T966fs frameshift delexon Pathogenic 0.00093/3162 CDH1 chr16:68845646 G>ANM_004360.4 c.892G>Ap.A298T missenseexon Likely pathogenic 0.0004NFE 0.00093/3162 CHEK2 chr22:29121016 G>ANM_007194.3 c.541C>Tp.R181C missenseexon Likely pathogenic 0.0001AFR 0.00093/3162 RAD51B chr14:68352674 C>TNM_001321814.1 c.541C>Tp.R181W missenseexon Pathogenic 0.0005NFE 0.00093/3162 BRCA2 chr13:32913778 T>GNM_000059.3 c.5286T>Gp.Y1762X stop gainexon Pathogenic 0.00093/3162 BRCA1 chr17:41223242 G>CNM_007294.3 c.4689C>Gp.Y1563X stop gainexon Pathogenic 0.00093/3162 BRCA2 chr13:32954050 G>ANM_000059.3 c.9117G>Ap.P3039P synonymousexon Pathogenic 0.00093/3162 BRCA1 chr17:41276047 C>CTNM_007294.3 c.66dupAp.E23fs frameshift insexon Pathogenic 0.00093/3162 MSH2 chr2:47703678 G>CNM_000251.2 c.2178G>Cp.M726I missenseexon Likely pathogenic 0.00062/3162 ATM chr11:108121752 CAG>CNM_000051.3 c.1561_1562delp.R521fs frameshift delexon Pathogenic 0.00062/3162 PMS2 chr7:6026766 C>TNM_000535.6 c.1630G>Ap.D544N missenseexon VUS 0.00062/3162 BRCA1 chr17:41243917 ACT>ANM_007294.3 c.3629_3630delp.E1210fs frameshift delexon Pathogenic 0.00062/3162 BRCA1 chr17:41234451 G>ANM_007294.3 c.4327C>Tp.R1443X stop gainexon Pathogenic 0.0001AFR 0.00062/3162 BRCA2 chr13:32906915 AAAAG>ANM_000059.3 c.1301_1304delp.K434fs frameshift delexon Pathogenic 0.00062/3162 PALB2 chr16:23647356 ATC>ANM_024675.3 c.509_510delp.R170fs frameshift delexon Pathogenic 0.00062/3162 0.00142/1384 MSH6 chr2:48026421 T>GNM_000179.2 c.1299T>Gp.Y433X stop gainexon Pathogenic 0.00062/3162 BRCA2 chr13:32889548 C>TNM_000059.3 c.-1050C>T upstream VUS 0.0049NFE 0.00062/3162 PMS2 chr7:6027128 G>CNM_000535.6 c.1268C>Gp.A423G missenseexon VUS 0.0009NFE 0.00062/3162 MSH6 chr2:48026360 G>ANM_000179.2 c.1238G>Ap.W413X stop gainexon Pathogenic 0.00062/3162 BRCA1 chr17:41244404 AC>ANM_007294.3 c.3143delGp.G1048fs frameshift delexon Pathogenic 0.00062/3162 PALB2 chr16:23625361 G>TNM_024675.3 c.3165C>Ap.Y1055X stop gainexon Pathogenic 0.00062/3162 0.00142/1382 BRCA1 chr17:41215969 C>TNM_007294.3 c.5075-1G>A splicingsplice site Pathogenic 0.00062/3162 BRIP1 chr17:59858343 G>TNM_032043.2 c.1652C>Ap.A551E missenseexon VUS 0.00006662NFE 0.00062/3162 TP53 chr17:7577091 G>ANM_000546.5 c.847C>Tp.R283C missenseexon Pathogenic 0.0002NFE 0.00062/3162 BRCA2 chr13:32921034 G>ANM_000059.3 c.7007+1G>A splicingsplice site Pathogenic 0.00062/3162 MLH1 chr3:37061861 C>GNM_000249.3 c.945C>Gp.H315Q missenseexon VUS 0.00006662NFE 0.00062/3162 0.00071/1388 PTEN chr10:89690828 G>ANM_000314.6 c.235G>Ap.A79T missenseexon VUS 0.0001NFE 0.00062/3162 MSH6 chr2:48033920 A>CNM_000179.2 c.4004A>Cp.E1335A missenseexon Likely pathogenic 0.0012AMR 0.00062/3162 PALB2 chr16:23614833 G>ANM_024675.3 c.3508C>Tp.H1170Y missenseexon Likely pathogenic 0.00006665NFE 0.00062/3162 0.00223/1386 MSH6 chr2:48033370 C>TNM_000179.2 c.3674C>Tp.T1225M missenseexon VUS 0.0002NFE 0.00062/3162 0.00142/1384 ATM chr11:108202604 A>CNM_000051.3 c.7630-2A>C splicingsplice site Pathogenic 0.00006665NFE 0.00062/3162 PMS2 chr7:6026801 T>CNM_000535.6 c.1595A>Gp.H532R missenseexon VUS 0.00062/3162 ATM chr11:108165730 G>ANM_000051.3 c.4853G>Ap.R1618Q missenseexon Pathogenic 0.00062/3162 BRCA1 chr17:41201137 C>GNM_007294.3 c.5406+1G>C splicingsplice site Pathogenic 0.00062/3162 CHEK2 chr22:29121015 C>TNM_007194.3 c.542G>Ap.R181H missenseexon VUS 0.0006EAS 0.00062/3162 MSH6 chr2:48030603 C>TNM_000179.2 c.3217C>Tp.P1073S missenseexon VUS 0.0001NFE 0.00062/3162 0.00142/1388 MSH6 chr2:48033775 C>TNM_000179.2 c.3986C>Tp.S1329L missenseexon VUS 0.0001NFE 0.00062/3162 0.00142/1386 MLH1 chr3:37090075 T>CNM_000249.3 c.1964T>Cp.I655T missenseexon VUS 0.0003NFE 0.00062/3162 0.00142/1384 BRCA2 chr13:32907408 CATCTT>CNM_000059.3 c.1794_1798delp.T598fs frameshift delexon Pathogenic 0.00062/3162 BRCA2 chr13:32911297 TAAAC>TNM_000059.3 c.2806_2809delp.K936fs frameshift delexon Pathogenic 0.00062/3162 CHEK2 chr22:29091121 C>CTNM_007194.3 c.1368dupAp.E457fs frameshift insexon Pathogenic 0.00062/3162 0.00223/1384 PALB2 chr16:23646627 G>ANM_024675.3 c.1240C>Tp.R414X stop gainexon Pathogenic 0.00062/3162 ATM chr11:108201108 T>GNM_000051.3 c.7475T>Gp.L2492R missenseexon VUS 0.0005NFE 0.00062/3162 0.00152/1356 TP53 chr17:7578555 C>CTNM_000546.5 c.376-1->A splicingsplice site VUS 0.00031/3162 ATM chr11:108206576 G>ANM_000051.3 c.8156G>Ap.R2719H missenseexon VUS 0.00031/3162 BRCA2 chr13:32953959 AT>ANM_000059.3 c.9027delTp.Y3009fs frameshift delexon Pathogenic 0.00031/3162 MSH2 chr2:47641430 C>TNM_000251.2 c.815C>Tp.A272V missenseexon Likely pathogenic 0.0003NFE 0.00031/3162 0.00071/1386 MSH6 chr2:48027795 C>GNM_000179.2 c.2673C>Gp.I891M missenseexon VUS 0.00031/3162 BRCA2 chr13:32912171 CTGAA>CNM_000059.3 c.3680_3683delp.L1227fs frameshift delexon Pathogenic 0.00031/3162 BRCA1 chr17:41243775 TC>TNM_007294.3 c.3772delGp.E1258fs frameshift delexon Pathogenic 0.00031/3162 BRCA2 chr13:32914800 C>ANM_000059.3 c.6308C>Ap.S2103X stop gainexon Pathogenic 0.00031/3162 PMS2 chr7:6026754 C>TNM_000535.6 c.1642G>Ap.D548N missenseexon VUS 0.00031/3162 BRCA1 chr17:41244145 G>ANM_007294.3 c.3403C>Tp.Q1135X stop gainexon Pathogenic 0.00031/3162 BRCA2 chr13:32914069 T>TANM_000059.3 c.5578dupAp.I1859fs frameshift insexon Pathogenic 0.00031/3162 BRCA2 chr13:32914939 T>TANM_000059.3 c.6448dupAp.I2149fs frameshift insexon Pathogenic 0.00031/3162 BRCA2 chr13:32914766 CTT>CNM_000059.3 c.6275_6276delp.L2092fs frameshift delexon Pathogenic 0.00006671NFE 0.00031/3162 RAD51C chr17:56774151 A>TNM_058216.2 c.502A>Tp.R168X stop gainexon Pathogenic 0.00031/3162 BRCA2 chr13:32907434 A>TNM_000059.3 c.1819A>Tp.K607X stop gainexon Pathogenic 0.00031/3162 BRCA2 chr13:32907420 G>GANM_000059.3 c.1806dupAp.G602fs frameshift insexon Pathogenic 0.00031/3162 BRCA2 chr13:32903604 CTG>CNM_000059.3 c.657_658delp.T219fs frameshift delexon Pathogenic 0.0002AFR 0.00031/3162 0.00071/1370 BRCA1 chr17:41246037 CG>CNM_007294.3 c.1510delCp.R504fs frameshift delexon Pathogenic 0.00031/3162 RAD51C chr17:56770093 CG>CNM_058216.2 c.90delGp.A30fs frameshift delexon Pathogenic 0NFE 0.00031/3162 CHEK2 chr22:29130412 G>ANM_007194.3 c.298C>Tp.Q100X stop gainexon Likely pathogenic 0.00031/3162 BRCA2 chr13:32932019 G>ANM_000059.3 c.7758G>Ap.W2586X stop gainexon Pathogenic 0.00031/3162 BRCA2 chr13:32911442 G>GANM_000059.3 c.2951dupAp.E984fs frameshift insexon Pathogenic 0.00031/3162 BRCA1 chr17:41242952 GCTTTTTAC>GNM_007294.3 c.4185+1_4185+8delGTAAAAAG splicingsplice site Pathogenic 0.00031/3162 RAD51D chr17:33430317 G>ANM_002878.3 c.694C>Tp.R232X stop gainexon Pathogenic 0.00006664NFE 0.00031/3162 MSH2 chr2:47635560 G>CNM_000251.2 c.232G>Cp.V78L missenseexon VUS 0.00031/3162 MLH1 chr3:37050323 A>GNM_000249.3 c.472A>Gp.N158D missenseexon VUS 0.00031/3162 MSH6 chr2:48033789 C>TNM_000179.2 c.4000C>Tp.R1334W missenseexon Likely pathogenic 0.0001AFR 0.00031/3162 BRCA1 chr17:41246531 CTT>CNM_007294.3 c.1015_1016delp.K339fs frameshift delexon Pathogenic 0.00031/3162 BRCA1 chr17:41244296 AAGCAT>ANM_007294.3 c.3247_3251delp.M1083fs frameshift delexon Pathogenic 0.00031/3162 EPCAM chr2:47602397 C>GNM_002354.2 c.450C>Gp.H150Q missenseexon VUS 0.00031/3162 BRCA2 chr13:32906565 C>CANM_000059.3 c.951dupAp.T317fs frameshift insexon Pathogenic 0.00031/3162 BRCA2 chr13:32954009 C>CAGTTNM_000059.3 c.9076_9077insAGTTp.Q3026fs frameshift insexon Pathogenic 0.00031/3162 MSH6 chr2:48027278 C>TNM_000179.2 c.2156C>Tp.T719I missenseexon VUS 0.00006663NFE 0.00031/3162 MLH1 chr3:37081755 A>GNM_000249.3 c.1637A>Gp.K546R missenseexon Likely pathogenic 0.00031/3162 ATM chr11:108205832 T>CNM_000051.3 c.8147T>Cp.V2716A missenseexon Pathogenic 0.0001AFR 0.00031/3162 BRCA1 chr17:41245330 CT>CNM_007294.3 c.2217delAp.K739fs frameshift delexon Pathogenic 0.00031/3162 MSH2 chr2:47690245 T>GNM_000251.2 c.1462T>Gp.L488V missenseexon VUS 0.00031/3162 MLH1 chr3:37070330 GA>GNM_000249.3 c.1466delAp.E489fs frameshift delexon Likely pathogenic 0.00031/3162 BRCA1 chr17:41244839 A>TNM_007294.3 c.2709T>Ap.C903X stop gainexon Pathogenic 0.00031/3162 CHEK2 chr22:29120962 T>ANM_007194.3 c.592+3A>T splicingsplice site VUS 0.00031/3162 0.00071/1386 PALB2 chr16:23641202 G>ANM_024675.3 c.2273C>Tp.P758L missenseexon VUS 0.0006EAS 0.00031/3162 MLH1 chr3:37067179 A>CNM_000249.3 c.1090A>Cp.T364P missenseexon VUS 0.00031/3162 MSH6 chr2:48030639 A>ACNM_000179.2 c.3254dupCp.T1085fs frameshift insexon Pathogenic 0.0001AFR 0.00031/3162 PALB2 chr16:23641218 G>ANM_024675.3 c.2257C>Tp.R753X stop gainexon Pathogenic 0.00031/3162 BRCA1 chr17:41209068 C>TNM_007294.3 c.5277+1G>A splicingsplice site Pathogenic 0.00031/3162 BRCA1 chr17:41244056 ACTAGTATCTTC>ANM_007294.3 c.3481_3491delp.E1161fs frameshift delexon Pathogenic 0.00031/3162 BRCA1 chr17:41197774 A>TNM_007294.3 c.5513T>Ap.V1838E missenseexon Pathogenic 0.00031/3162 BRCA1 chr17:41226471 G>ANM_007294.3 c.4552C>Tp.Q1518X stop gainexon Pathogenic 0.00031/3162 BRCA2 chr13:32914137 C>ANM_000059.3 c.5645C>Ap.S1882X stop gainexon Pathogenic 0.00031/3162 BRCA2 chr13:32912353 TAATA>TNM_000059.3 c.3862_3865delp.N1288fs frameshift delexon Pathogenic 0.00031/3162 MSH6 chr2:48027625 C>GNM_000179.2 c.2503C>Gp.Q835E missenseexon VUS 0.00031/3162 BRCA1 chr17:41244016 TA>TNM_007294.3 c.3531delTp.F1177fs frameshift delexon Pathogenic 0.00031/3162 MSH2 chr2:47703697 G>ANM_000251.2 c.2197G>Ap.A733T missenseexon VUS 0.00031/3162 STK11 chr19:1218493 A>GNM_000455.4 c.368A>Gp.Q123R missenseexon Likely pathogenic 0.00006669NFE 0.00031/3162 PALB2 chr16:23646192 GAATA>GNM_024675.3 c.1671_1674delp.F557fs frameshift delexon Pathogenic 0.00031/3162 PMS2 chr7:6027209 A>GNM_000535.6 c.1187T>Cp.M396T missenseexon VUS 0.00031/3162 BRCA2 chr13:32910804 T>GNM_000059.3 c.2312T>Gp.L771X stop gainexon Pathogenic 0.00006666NFE 0.00031/3162 BRCA1 chr17:41226515 GA>GNM_007294.3 c.4507delTp.S1503fs frameshift delexon Pathogenic 0.00031/3162 EPCAM chr2:47606093 A>CNM_002354.2 c.557A>Cp.Y186S missenseexon VUS 0.00006662NFE 0.00031/3162 BRCA2 chr13:32914109 GTAAT>GNM_000059.3 c.5618_5621delp.V1873fs frameshift delexon Pathogenic 0.00031/3162 MSH6 chr2:48026015 G>ANM_000179.2 c.893G>Ap.R298Q missenseexon VUS 0.00031/3162 BRCA1 chr17:41222939 A>GNM_007294.3 c.4986+6T>C splicingintron Pathogenic 0.00031/3162 BRCA2 chr13:32936733 A>TNM_000059.3 c.7879A>Tp.I2627F missenseexon Pathogenic 0.00031/3162 MSH6 chr2:48030645 C>TNM_000179.2 c.3259C>Tp.P1087S missenseexon Likely pathogenic 0.0003NFE 0.00031/3162 BRCA2 chr13:32918745 G>GANM_000059.3 c.6893dupAp.E2298fs frameshift insexon Pathogenic 0.00031/3162 BRCA1 chr17:41215890 C>ANM_007294.3 c.5152+1G>T splicingsplice site Pathogenic 0.00031/3162 BRCA2 chr13:32972852 C>TNM_000059.3 c.10202C>Tp.T3401M missenseexon VUS 0.00006668NFE 0.00031/3162 BRCA2 chr13:32929255 G>GACNM_000059.3 c.7265_7266insACp.C2422_V2423delinsX stop gainexon Pathogenic 0.00031/3162 BRCA1 chr17:41245630 G>ANM_007294.3 c.1918C>Tp.Q640X stop gainexon Pathogenic 0.00031/3162 BRCA2 chr13:32912899 CAT>CNM_000059.3 c.4408_4409delp.I1470fs frameshift delexon Pathogenic 0.00031/3162 BRCA1 chr17:41251880 ACT>ANM_007294.3 c.457_458delp.S153fs frameshift delexon Pathogenic 0.00031/3162 BRCA1 chr17:41209148 T>ANM_007294.3 c.5198A>Tp.D1733V missenseexon VUS 0.00006667NFE 0.00031/3162 BRCA1 chr17:41243941 G>ANM_007294.3 c.3607C>Tp.R1203X stop gainexon Pathogenic 0.00031/3162 BRCA1 chr17:41256249 C>ANM_007294.3 c.331G>Tp.E111X stop gainexon Pathogenic 0.00031/3162 BRCA1 chr17:41243788 TAGAC>TNM_007294.3 c.3756_3759delp.L1252fs frameshift delexon Pathogenic 0.00031/3162 MLH1 chr3:37061923 G>ANM_000249.3 c.1007G>Ap.G336D missenseexon VUS 0.00031/3162 BRCA2 chr13:32954022 C>CANM_000059.3 c.9090dupAp.T3030fs frameshift insexon Pathogenic 0.00031/3162 BRCA1 chr17:41276061 A>GNM_007294.3 c.53T>Cp.M18T missenseexon Pathogenic 0.00031/3162 MLH1 chr3:37089175 G>CNM_000249.3 c.1896+1G>C splicingsplice site Likely pathogenic 0.00031/3162 BRCA2 chr13:32893347 GAAACCATCTTATAATC>GNM_000059.3 c.202_217delp.K68fs frameshift delexon Pathogenic 0.00031/3162 MSH6 chr2:48026090 C>GNM_000179.2 c.968C>Gp.T323S missenseexon VUS 0.00031/3162 MSH6 chr2:48026603 C>TNM_000179.2 c.1481C>Tp.A494V missenseexon VUS 0.00031/3162 TP53 chr17:7578407 G>ANM_000546.5 c.523C>Tp.R175C missenseexon Pathogenic 0NFE 0.00031/3162 MLH1 chr3:37090048 A>GNM_000249.3 c.1937A>Gp.Y646C missenseexon Likely pathogenic 0.0001AFR 0.00031/3162 MSH6 chr2:48023196 G>TNM_000179.2 c.621G>Tp.E207D missenseexon VUS 0.00031/3162 BRCA1 chr17:41258472 C>TNM_007294.3 c.212+1G>A splicingsplice site Pathogenic 0.00031/3162 BRCA2 chr13:32915112 CAA>CNM_000059.3 c.6621_6622delp.T2207fs frameshift delexon Pathogenic 0.00031/3162 EPCAM chr2:47601034 A>TNM_002354.2 c.272A>Tp.N91I missenseexon VUS 0.00031/3162 BRCA2 chr13:32936761 GT>GNM_000059.3 c.7908delTp.C2636fs frameshift delexon Pathogenic 0.00031/3162 BRCA2 chr13:32905122 G>ANM_000059.3 c.748G>Ap.V250M missenseexon VUS 0.00031/3162 PMS2 chr7:6017226 C>TNM_000535.6 c.2438G>Ap.R813Q missenseexon VUS 0.00031/3162 BRCA1 chr17:41244341 TTGAA>TNM_007294.3 c.3203_3206delp.I1068fs frameshift delexon Pathogenic 0.00031/3162 BRCA1 chr17:41243571 T>TGCCTCATTTGTTTGGAAGAACCAATCAANM_007294.3 c.3976_3977insTTGATTGGTTCTTCCAAACAAATGAGGCp.H1326fs frameshift insexon Pathogenic 0.00031/3162 PALB2 chr16:23652445 C>GNM_024675.3 c.34G>Cp.E12Q missenseexon VUS 0.00031/3162 CHEK2 chr22:29121058 C>TNM_007194.3 c.499G>Ap.G167R missenseexon Likely pathogenic 0.00031/3162 BRCA2 chr13:32921023 G>GTNM_000059.3 c.6998dupTp.V2333fs frameshift insexon Pathogenic 0.00031/3162 BRCA2 chr13:32911605 AT>ANM_000059.3 c.3114delTp.Y1038fs frameshift delexon Pathogenic 0.00031/3162 BRCA2 chr13:32914574 GAA>GNM_000059.3 c.6083_6084delp.E2028fs frameshift delexon Pathogenic 0.00031/3162 BRCA2 chr13:32953534 GT>GNM_000059.3 c.8836delTp.L2946fs frameshift delexon Pathogenic 0.00031/3162 MSH6 chr2:48027413 C>ANM_000179.2 c.2291C>Ap.T764N missenseexon Likely pathogenic 0.0001AFR 0.00031/3162 MSH6 chr2:48026357 A>CNM_000179.2 c.1235A>Cp.K412T missenseexon VUS 0.00031/3162 MSH6 chr2:48027675 CAAG>CNM_000179.2 c.2554_2556delp.852_852del in-frame delexon VUS 0.00031/3162 BRCA2 chr13:32890556 CAG>CNM_000059.3 r.spl splicingsplice site Pathogenic 0.00031/3162 MSH2 chr2:47639682 C>TNM_000251.2 c.775C>Tp.P259S missenseexon VUS 0.00031/3162 BRCA2 chr13:32900279 A>ATNM_000059.3 c.468dupTp.D156fs frameshift insexon Pathogenic 0.0000666NFE 0.00031/3162 BRCA2 chr13:32968950 G>ANM_000059.3 c.9381G>Ap.W3127X stop gainexon Pathogenic 0.00031/3162 BRCA2 chr13:32968835 CT>CNM_000059.3 c.9267delTp.P3089fs frameshift delexon Pathogenic 0.00031/3162 RAD51C chr17:56801398 CAG>CNM_058216.2 r.spl splicingsplice site Pathogenic 0.00031/3162 BRCA2 chr13:32906625 A>ATGNM_000059.3 c.1010_1011insTGp.N337fs frameshift insexon Pathogenic 0.00031/3162 STK11 chr19:1223151 C>ANM_000455.4 c.1088C>Ap.T363N missenseexon VUS 0.00031/3162 BRCA1 chr17:41246073 ATC>ANM_007294.3 c.1473_1474delp.Q491fs frameshift delexon Pathogenic 0.00031/3162 BRCA1 chr17:41243808 ACGGTGCTATGC>ANM_007294.3 c.3729_3739delp.R1243fs frameshift delexon Pathogenic 0.00031/3162 BRCA1 chr17:41243821 T>TCNM_007294.3 c.3726_3727insGp.R1243fs frameshift insexon Pathogenic 0.00031/3162 RAD51D chr17:33434399 T>TANM_002878.3 c.330dupTp.S111_G112delinsX stop gainexon Pathogenic 0.00031/3162 BRCA1 chr17:41226347 C>TNM_007294.3 c.4675+1G>A splicingsplice site Pathogenic 0.00031/3162 BRCA1 chr17:41245210 G>ANM_007294.3 c.2338C>Tp.Q780X stop gainexon Pathogenic 0.00031/3162 BRCA2 chr13:32914366 T>ANM_000059.3 c.5874T>Ap.C1958X stop gainexon Pathogenic 0.00031/3162 BRCA1 chr17:41243584 T>ANM_007294.3 c.3964A>Tp.K1322X stop gainexon Pathogenic 0.00031/3162 BRCA1 chr17:41245968 T>CNM_007294.3 c.1580A>Gp.K527R missenseexon VUS 0.00031/3162 BRCA2 chr13:32954272 GA>GNM_000059.3 c.9247delAp.K3083fs frameshift delexon Pathogenic 0.00031/3162 MSH6 chr2:48018201 GT>GNM_000179.2 c.397delTp.F133fs frameshift delexon Likely pathogenic 0.00031/3162 BRCA2 chr13:32914647 C>GNM_000059.3 c.6155C>Gp.S2052X stop gainexon Pathogenic 0.00031/3162 MSH2 chr2:47643484 A>GNM_000251.2 c.992A>Gp.N331S missenseexon VUS 0.00031/3162 PMS2 chr7:6026495 T>CNM_000535.6 c.1901A>Gp.H634R missenseexon VUS 0.00031/3162 BRCA2 chr13:32950854 C>TNM_000059.3 c.8680C>Tp.Q2894X stop gainexon Pathogenic 0.00031/3162 BRCA1 chr17:41245861 G>ANM_007294.3 c.1687C>Tp.Q563X stop gainexon Pathogenic 0.00031/3162 BRCA2 chr13:32911788 C>ANM_000059.3 c.3296C>Ap.S1099X stop gainexon Pathogenic 0.00031/3162 BRCA2 chr13:32915082 CTG>CNM_000059.3 c.6591_6592delp.T2197fs frameshift delexon Pathogenic 0.00031/3162
No matches