Variant repository

PTEN NM_000314.8:c.927_937delinsT

NP_000305.3:p.(D310Rfs*4)

Likely Pathogenic

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CDK12 NM_016507.4:c.3052G>A

NP_057591.2:p.(D1018N)

VUS

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PTEN NM_000314.8:c.203A>G

NP_000305.3:p.(Y68C)

VUS

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KEAP1 NM_012289.4:c.1222C>A

NP_036421.2:p.(P408T)

VUS

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GNA11 NM_002067.5:c.605+2_606del

NP_002058.2:p.?

Likely Pathogenic

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RAD51B NM_133509.3:c.481C>T

NP_598193.2:p.(P161S)

Likely Benign

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FANCD2 NM_033084.4:c.2038G>A

NP_149075.2:p.(V680M)

VUS

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KIT NM_000222.2:c.1725_1739dup

NP_000213.1:p.(Q575_D579dup)

Likely Pathogenic

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MYCL NM_001033082.2:c.749C>T

NP_001028254.2:p.(P250L)

VUS

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FGF3 NM_005247.2:c.623C>A

NP_005238.1:p.(P208H)

VUS

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TSC1 NM_000368.4:c.2209-1G>C

NP_000359.1:p.?

VUS

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GNAQ NM_002072.4:c.208G>T

NP_002063.2:p.(E70*)

Pathogenic

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BRCA2 NM_000059.3:c.1274A>G

NP_000050.2:p.(E425G)

Likely Benign

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BRCA2 NM_000059.4:c.8386C>T

NP_000050.3:p.(P2796S)

VUS

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TSC1 NM_000368.4:c.3106G>A

NP_000359.1:p.(G1036R)

VUS

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RAD51C NM_058216.2:c.145+1G>A

NP_478123.1:p.?

Pathogenic

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NTRK3 NM_001012338.2:c.1795C>G

NP_001012338.1:p.(H599D)

VUS

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PRPF8 NM_006445.3:c.4775A>C

NP_006436.3:p.(D1592A)

VUS

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PPM1D NM_003620.3:c.1525G>C

NP_003611.1:p.(D509H)

VUS

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EZH2 NM_004456.4:c.1851G>A

NP_004447.2:p.(K617=)

VUS

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BCORL1 NM_021946.4:c.4642C>T

NP_068765.3:p.(R1548W)

VUS

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SH2B3 NM_005475.2:c.419G>C

NP_005466.1:p.(R140P)

VUS

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EIF1AX NM_001412.4:c.5C>T

NP_001403.1:p.(P2L)

VUS

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TSC2 NM_000548.4:c.3715G>C

NP_000539.2:p.(E1239Q)

VUS

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TSC1 NM_000368.4:c.2215C>T

NP_000359.1:p.(Q739*)

Pathogenic

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POLD1 NM_001308632.1:c.845C>T

NP_001295561.1:p.(T282M)

VUS

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NF1 NM_000267.3:c.3118A>T

NP_000258.1:p.(K1040*)

Likely Pathogenic

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NF1 NM_001042492.2:c.3479G>A

NP_001035957.1:p.(G1160D)

VUS

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RB1 NM_000321.2:c.2236G>T

NP_000312.2:p.(E746*)

VUS

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NOTCH3 NM_000435.2:c.5946G>T

NP_000426.2:p.(E1982D)

VUS

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NOTCH1 NM_017617.5:c.5081A>G

NP_060087.3:p.(Q1694R)

VUS

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BRCA2 NM_000059.4:c.*23A>C

NP_000050.3:p.?

VUS

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PALB2 NM_024675.4:c.1096A>G

NP_078951.2:p.(N366D)

VUS

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MSH3 NM_002439.5:c.2800G>T

NP_002430.3:p.(G934C)

VUS

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PTEN NM_000314.8:c.951_952del

NP_000305.3:p.(L318Yfs*6)

Likely Pathogenic

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BRCA2 NM_000059.4:c.4284dup

NP_000050.3:p.(Q1429Sfs*9)

Pathogenic

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BRIP1 NM_032043.3:c.143C>A

NP_114432.2:p.(T48K)

VUS

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NBN NM_002485.4:c.1873G>T

NP_002476.2:p.(E625*)

VUS

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MLH1 NM_000249.4:c.1039-25T>A

NP_000240.1:p.?

Benign

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MLH1 NM_000249.4:c.1344G>T

NP_000240.1:p.(E448D)

VUS

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BARD1 NM_000465.4:c.1409A>G

NP_000456.2:p.(N470S)

VUS

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MLH1 NM_000249.4:c.1989G>A

NP_000240.1:p.(E663=)

Pathogenic

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MLH1 NM_000249.4:c.381-1G>A

NP_000240.1:p.?

Pathogenic

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NRAS NM_002524.5:c.38G>T

NP_002515.1:p.(G13V)

VUS

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ATR NM_001184.3:c.2112G>T

NP_001175.2:p.(K704N)

VUS

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MTOR NM_004958.4:c.3610A>G

NP_004949.1:p.(I1204V)

VUS

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MSH6 NM_000179.2:c.4068_4071dup

NP_000170.1:p.(K1358Dfs*2)

Benign

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CREBBP NM_004380.2:c.3215C>G

NP_004371.2:p.(S1072C)

VUS

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FGFR3 NM_000142.4:c.109+2T>C

NP_000133.1:p.?

Likely Pathogenic

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NTRK1 NM_002529.3:c.375C>A

NP_002520.2:p.(N125K)

VUS

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ZRSR2 NM_005089.3:c.758T>C

NP_005080.1:p.(V253A)

VUS

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STAG2 NM_001042749.1:c.488T>A

NP_001036214.1:p.(M163K)

VUS

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RUNX1 NM_001754.4:c.1270T>G

NP_001745.2:p.(S424A)

Benign

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RUNX1 NM_001754.4:c.1265A>C

NP_001745.2:p.(E422A)

Benign

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STAG2 NM_001042749.1:c.482T>A

NP_001036214.1:p.(L161H)

VUS

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RUNX1 NM_001754.4:c.1252A>T

NP_001745.2:p.(M418L)

Benign

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NF1 NM_000267.3:c.2355A>G

NP_000258.1:p.(E785=)

VUS

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FBXW7 NM_033632.3:c.1394G>A

NP_361014.1:p.(R465H)

Likely Pathogenic

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PPP2R1A NM_014225.5:c.536C>G

NP_055040.2:p.(P179R)

Likely Pathogenic

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DICER1 NM_177438.2:c.1708A>T

NP_803187.1:p.(K570*)

Likely Pathogenic

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GNA11 NM_002067.5:c.892C>T

NP_002058.2:p.(P298S)

VUS

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VHL NM_000551.3:c.434A>T

NP_000542.1:p.(Q145L)

VUS

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NRAS NM_002524.5:c.101C>T

NP_002515.1:p.(P34L)

VUS

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TSC1 NM_000368.4:c.682C>T

NP_000359.1:p.(R228*)

Pathogenic

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SMARCA4 NM_001128849.1:c.3484G>A

NP_001122321.1:p.(G1162S)

Likely Pathogenic

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APC NM_001127511.3:c.3865del

NP_001120983.2:p.(I1289*)

Likely Pathogenic

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SMARCB1 NM_003073.4:c.1091_1093del

NP_003064.2:p.(K364del)

—

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HRAS NM_001130442.2:c.374T>C

NP_001123914.1:p.(V125A)

VUS

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SMARCA4 NM_001128849.1:c.4927G>T

NP_001122321.1:p.(G1643C)

VUS

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SMARCB1 NM_003073.4:c.1130G>A

NP_003064.2:p.(R377H)

Pathogenic

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ATR NM_001184.3:c.6680A>G

NP_001175.2:p.(N2227S)

VUS

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EIF1AX NM_001412.4:c.338-1G>C

NP_001403.1:p.?

Likely Pathogenic

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GNAS NM_000516.5:c.601C>T

NP_000507.1:p.(R201C)

Likely Pathogenic

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CDK12 NM_016507.4:c.2964C>T

NP_057591.2:p.(F988=)

Likely Benign

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TERT NM_198253.2:c.899G>A

NP_937983.2:p.(G300D)

VUS

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EGFR NM_005228.4:c.2237_2255delinsT

NP_005219.2:p.(E746_S752delinsV)

Likely Pathogenic

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TERT NM_198253.2:c.833C>T

NP_937983.2:p.(P278L)

VUS

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ERCC2 NM_000400.3:c.298G>C

NP_000391.1:p.(E100Q)

VUS

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CHEK2 NM_007194.4:c.176C>A

NP_009125.1:p.(T59K)

VUS

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PTPN11 NM_002834.4:c.179G>T

NP_002825.3:p.(G60V)

Likely Pathogenic

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FLT3 NM_004119.2:c.2246C>A

NP_004110.2:p.(S749*)

VUS

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EIF1AX NM_001412.4:c.25G>C

NP_001403.1:p.(G9R)

VUS

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RB1 NM_000321.2:c.2341C>T

NP_000312.2:p.(P781S)

VUS

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MYH7 NM_000257.3:c.2548G>A

NP_000248.2:p.(A850T)

VUS

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PTPN11 NM_002834.4:c.169C>A

NP_002825.3:p.(Q57K)

VUS

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RAD51B NM_133509.4:c.263C>G

NP_598193.2:p.(S88C)

VUS

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SF3B1 NM_012433.3:c.2098A>G

NP_036565.2:p.(K700E)

Likely Pathogenic

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SETD2 NM_014159.6:c.7572dup

NP_054878.5:p.(K2525*)

VUS

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FGFR4 NM_213647.2:c.1144G>T

NP_998812.1:p.(V382L)

VUS

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FGF3 NM_005247.2:c.121G>T

NP_005238.1:p.(G41W)

VUS

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VHL NM_000551.3:c.241C>T

NP_000542.1:p.(P81S)

Benign

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BARD1 NM_000465.4:c.221G>T

NP_000456.2:p.(C74F)

VUS

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ATR NM_001184.3:c.1751A>G

NP_001175.2:p.(D584G)

VUS

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HRAS NM_005343.4:c.182A>G

NP_005334.1:p.(Q61R)

Pathogenic

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NTRK3 NM_001012338.2:c.1730C>T

NP_001012338.1:p.(P577L)

VUS

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BRAF NM_004333.5:c.2107G>A

NP_004324.2:p.(E703K)

VUS

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CTNNB1 NM_001098209.2:c.98C>A

NP_001091679.1:p.(S33Y)

Pathogenic

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DICER1 NM_177438.2:c.1468C>T

NP_803187.1:p.(R490C)

VUS

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POLD1 NM_002691.4:c.2716_2717del

NP_002682.2:p.(R906Dfs*47)

VUS

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MLH1 NM_000249.3:c.1433A>G

NP_000240.1:p.(D478G)

VUS

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