Variant repository

CDK4 NM_000075.3:c.803G>A

NP_000066.1:p.(G268E)

VUS

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PTCH1 NM_000264.5:c.2215_2216delinsTT

NP_000255.2:p.(H739F)

VUS

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ARID1A NM_006015.5:c.2297A>T

NP_006006.3:p.(Q766L)

VUS

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NOTCH3 NM_000435.2:c.3278G>T

NP_000426.2:p.(C1093F)

Likely Pathogenic

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PTEN NM_000314.6:c.95T>G

NP_000305.3:p.(I32S)

VUS

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DICER1 NM_177438.2:c.2536A>G

NP_803187.1:p.(I846V)

VUS

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MYCN NM_005378.5:c.368G>T

NP_005369.2:p.(R123L)

VUS

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TERT NM_198253.2:c.1812A>G

NP_937983.2:p.(A604=)

VUS

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PPM1D NM_003620.3:c.1570del

NP_003611.1:p.(Q524Kfs*15)

VUS

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RAD21 NM_006265.2:c.165A>G

NP_006256.1:p.(T55=)

Likely Benign

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PRPF8 NM_006445.3:c.3081A>T

NP_006436.3:p.(S1027=)

VUS

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TET2 NM_001127208.2:c.2193A>G

NP_001120680.1:p.(Q731=)

VUS

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SETBP1 NM_015559.2:c.575A>G

NP_056374.2:p.(H192R)

VUS

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PPM1D NM_003620.3:c.1260+4T>C

NP_003611.1:p.?

VUS

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KMT2A NM_005933.3:c.10244C>T

NP_005924.2:p.(P3415L)

VUS

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IDH2 NM_002168.2:c.374-10G>A

NP_002159.2:p.?

VUS

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BCORL1 NM_021946.4:c.1953C>T

NP_068765.3:p.(H651=)

VUS

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PHF6 NM_001015877.1:c.859G>C

NP_001015877.1:p.(G287R)

VUS

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KRAS NM_033360.2:c.57G>T

NP_203524.1:p.(L19F)

VUS

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TET2 NM_001127208.2:c.2119G>A

NP_001120680.1:p.(A707T)

VUS

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NF2 NM_000268.3:c.958C>T

NP_000259.1:p.(Q320*)

VUS

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CDKN2A NM_001195132.1:c.44_46dup

NP_001182061.1:p.(W15_L16insR)

VUS

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MET NM_001127500.3:c.1063G>A

NP_001120972.1:p.(E355K)

VUS

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RET NM_020975.5:c.2486G>A

NP_066124.1:p.(S829N)

VUS

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CCND1 NM_053056.3:c.839_841del

NP_444284.1:p.(E280del)

Likely Benign

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RAD51B NM_133509.4:c.171_173dup

NP_598193.2:p.(S57dup)

Likely Benign

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CREBBP NM_004380.2:c.7299C>A

NP_004371.2:p.(D2433E)

VUS

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CALR NM_004343.3:c.1066C>G

NP_004334.1:p.(Q356E)

VUS

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CALR NM_004343.3:c.1066C>G

NP_004334.1:p.(Q356E)

Not classified

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GALNT12 NM_024642.5:c.460C>T

NP_078918.3:p.(R154W)

VUS

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BCOR NM_017745.5:c.2265C>A

NP_060215.4:p.(Y755*)

Likely Pathogenic

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POLD1 NM_002691.4:c.2959del

NP_002682.2:p.(D987Tfs*58)

Likely Pathogenic

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ATM NM_000051.4:c.3332T>C

NP_000042.3:p.(L1111P)

VUS

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MSH6 NM_000179.3:c.2731C>T

NP_000170.1:p.(R911*)

Pathogenic

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ATM NM_000051.4:c.3332T>C

NP_000042.3:p.(L1111P)

VUS

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PRPF8 NM_006445.3:c.2013A>G

NP_006436.3:p.(T671=)

VUS

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BCOR NM_017745.5:c.3870_3871insC

NP_060215.4:p.(K1291Qfs*84)

Likely Pathogenic

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STAG2 NM_001042749.1:c.2431G>T

NP_001036214.1:p.(E811*)

VUS

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RUNX1 NM_001754.4:c.707dup

NP_001745.2:p.(M236Ifs*25)

Pathogenic

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RUNX1 NM_001754.4:c.560C>T

NP_001745.2:p.(A187V)

VUS

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NF1 NM_001042492.2:c.2544G>A

NP_001035957.1:p.(G848=)

Benign

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NF1 NM_001042492.2:c.2022C>T

NP_001035957.1:p.(S674=)

Benign

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CUX1 NM_001202543.1:c.2598_2606dup

NP_001189472.1:p.(S868_G870dup)

Benign

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KMT2A NM_005933.3:c.2040G>T

NP_005924.2:p.(S680=)

VUS

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DDX41 NM_016222.2:c.1479C>T

NP_057306.2:p.(S493=)

Likely Benign

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TERT NM_198253.2:c.2283C>T

NP_937983.2:p.(S761=)

VUS

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ATM NM_000051.4:c.3332T>C

NP_000042.3:p.(L1111P)

VUS

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ATM NM_000051.4:c.3332T>C

NP_000042.3:p.(L1111P)

VUS

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MSH2 NM_000251.3:c.2005+1G>A

NP_000242.1:p.?

Likely Pathogenic

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MLH1 NM_000249.4:c.1039-6dup

NP_000240.1:p.?

Benign

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MLH1 NM_000249.4:c.1039-6dup

NP_000240.1:p.?

VUS

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MSH2 NM_000251.3:c.1255C>T

NP_000242.1:p.(Q419*)

Pathogenic

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MSH6 NM_000179.3:c.1403G>A

NP_000170.1:p.(R468H)

Likely Benign

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MLH1 NM_000249.4:c.1558+4C>T

NP_000240.1:p.?

VUS

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MLH1 NM_000249.4:c.1039-6dup

NP_000240.1:p.?

VUS

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MET NM_001127500.2:c.737C>T

NP_001120972.1:p.(P246L)

VUS

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MSH3 NM_002439.5:c.2041C>T

NP_002430.3:p.(P681S)

VUS

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RAD51C NM_058216.3:c.187A>T

NP_478123.1:p.(I63F)

VUS

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POLE NM_006231.4:c.286-8C>G

NP_006222.2:p.?

VUS

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GALNT12 NM_024642.5:c.123T>G

NP_078918.3:p.(R41=)

VUS

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BAP1 NM_004656.4:c.126T>C

NP_004647.1:p.(P42=)

VUS

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POLE NM_006231.4:c.331-30G>A

NP_006222.2:p.?

VUS

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POLE NM_006231.4:c.3332G>A

NP_006222.2:p.(R1111Q)

VUS

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MUTYH NM_001128425.2:c.1465G>A

NP_001121897.1:p.(A489T)

VUS

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GBA1 NM_000157.4:c.1093G>A

NP_000148.2:p.(E365K)

Benign

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IDH2 NM_002168.3:c.413C>A

NP_002159.2:p.(T138N)

VUS

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IDH2 NM_002168.3:c.413C>A

NP_002159.2:p.(T138N)

VUS

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IDH2 NM_002168.3:c.413C>A

NP_002159.2:p.(T138N)

VUS

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ERBB2 NM_004448.3:c.2584A>G

NP_004439.2:p.(T862A)

Likely Pathogenic

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NF2 NM_000268.3:c.1249A>T

NP_000259.1:p.(I417F)

VUS

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FOXL2 NM_023067.4:c.386C>T

NP_075555.1:p.(T129M)

VUS

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MLH3 NM_001040108.2:c.3455G>A

NP_001035197.1:p.(R1152H)

VUS

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BRCA2 NM_000059.4:c.4183G>T

NP_000050.3:p.(A1395S)

Likely Benign

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TSC1 NM_000368.5:c.2865C>T

NP_000359.1:p.(T955=)

Benign

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FLCN NM_144997.7:c.1177-5_1177-3del

NP_659434.2:p.?

Pathogenic

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MYC NM_002467.5:c.212_214dup

NP_002458.2:p.(L71dup)

VUS

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FANCD2 NM_033084.4:c.3560+2T>A

NP_149075.2:p.?

VUS

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ATM NM_000051.4:c.5574G>A

NP_000042.3:p.(W1858*)

Pathogenic

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ATM NM_000051.4:c.4231del

NP_000042.3:p.(S1411Afs*40)

Pathogenic

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ROS1 NM_002944.2:c.6068A>T

NP_002935.2:p.(Y2023F)

VUS

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ROS1 NM_002944.2:c.6068A>T

NP_002935.2:p.(Y2023F)

VUS

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PTEN NM_000314.8:c.888T>A

NP_000305.3:p.(C296*)

Likely Pathogenic

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POLE NM_006231.4:c.2284C>T

NP_006222.2:p.(R762W)

VUS

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POLE NM_006231.4:c.2964G>T

NP_006222.2:p.(S988=)

VUS

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PTEN NM_000314.8:c.209T>G

NP_000305.3:p.(L70R)

VUS

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PTEN NM_000314.8:c.46T>G

NP_000305.3:p.(Y16D)

VUS

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POLE NM_006231.4:c.4501G>A

NP_006222.2:p.(G1501R)

VUS

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RAD51B NM_133509.4:c.585_587dup

NP_598193.2:p.(E198dup)

VUS

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TSC2 NM_000548.4:c.3796_3797del

NP_000539.2:p.(L1266Afs*55)

Likely Pathogenic

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RAD54L NM_003579.4:c.1093_1169+15dup

NP_003570.2:p.?

VUS

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IDH2 NM_002168.3:c.520G>A

NP_002159.2:p.(A174T)

VUS

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KRAS NM_033360.3:c.250A>G

NP_203524.1:p.(I84V)

VUS

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IDH2 NM_002168.3:c.413C>A

NP_002159.2:p.(T138N)

VUS

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FGF3 NM_005247.2:c.310C>T

NP_005238.1:p.(R104*)

Likely Pathogenic

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IDH2 NM_002168.3:c.413C>A

NP_002159.2:p.(T138N)

VUS

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IDH2 NM_002168.3:c.413C>A

NP_002159.2:p.(T138N)

VUS

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FGFR2 NM_000141.4:c.346G>A

NP_000132.3:p.(E116K)

VUS

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RET NM_020975.5:c.2895G>T

NP_066124.1:p.(K965N)

VUS

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NF2 NM_000268.3:c.863C>G

NP_000259.1:p.(S288*)

Likely Pathogenic

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PIK3CA NM_006218.3:c.946C>T

NP_006209.2:p.(P316S)

VUS

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