Variant repository

NF2 NM_000268.3:c.604G>T

NP_000259.1:p.(E202*)

Pathogenic

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SETD2 NM_014159.6:c.5746C>T

NP_054878.5:p.(P1916S)

VUS

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NTRK1 NM_002529.3:c.1474G>A

NP_002520.2:p.(E492K)

Likely Pathogenic

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IDH2 NM_002168.3:c.514A>G

NP_002159.2:p.(R172G)

Pathogenic

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KRAS NM_033360.4:c.407G>A

NP_203524.1:p.(S136N)

Not classified

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EZHIP NM_203407.3:c.741A>T

NP_981952.1:p.(P247=)

Likely Benign

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PIK3R1 NM_181523.2:c.1355A>G

NP_852664.1:p.(Y452C)

VUS

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TSC2 NM_000548.4:c.29G>T

NP_000539.2:p.(G10V)

VUS

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PTCH1 NM_000264.5:c.1913G>A

NP_000255.2:p.(R638H)

Likely Benign

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IDH2 NM_002168.3:c.419G>A

NP_002159.2:p.(R140Q)

Pathogenic

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MYCN NM_005378.6:c.1069C>T

NP_005369.2:p.(R357C)

VUS

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MSH6 NM_000179.2:c.1796G>A

NP_000170.1:p.(G599E)

Not classified

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NTRK1 NM_002529.3:c.926C>T

NP_002520.2:p.(P309L)

VUS

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BRCA2 NM_000059.4:c.5238dup

NP_000050.3:p.(N1747*)

Not classified

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ATM NM_000051.4:c.4997A>C

NP_000042.3:p.(E1666A)

VUS

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BRCA1 NM_007294.4:c.302-10_302-5delinsATTTTA

NP_009225.1:p.?

VUS

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NTRK1 NM_002529.3:c.737C>T

NP_002520.2:p.(S246F)

VUS

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HRAS NM_005343.4:c.403C>G

NP_005334.1:p.(R135G)

VUS

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ATR NM_001184.3:c.2804A>C

NP_001175.2:p.(Q935P)

VUS

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FH NM_000143.4:c.151C>T

NP_000134.2:p.(R51W)

VUS

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ATM NM_000051.4:c.7913G>A

NP_000042.3:p.(W2638*)

Pathogenic

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FH NM_000143.4:c.1127A>C

NP_000134.2:p.(Q376P)

VUS

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PTEN NM_000314.8:c.389_405delinsTAACTGGTGTAATGATG

NP_000305.3:p.(R130_I135delinsLTGVMM)

VUS

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PTEN NM_000314.8:c.405A>G

NP_000305.3:p.(I135M)

Likely Pathogenic

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PTPN11 NM_002834.4:c.1508G>T

NP_002825.3:p.(G503V)

Pathogenic

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FH NM_000143.4:c.817G>A

NP_000134.2:p.(A273T)

Likely Pathogenic

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FH NM_000143.4:c.364_367del

NP_000134.2:p.(K122Qfs*5)

VUS

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FH NM_000143.4:c.434C>G

NP_000134.2:p.(S145*)

Pathogenic

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RB1 NM_000321.2:c.1027_1028del

NP_000312.2:p.(L343Sfs*3)

Pathogenic

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NTRK1 NM_002529.3:c.1031G>A

NP_002520.2:p.(G344E)

VUS

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CDK6 NM_001259.8:c.334G>A

NP_001250.1:p.(V112I)

VUS

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IDH1 NM_005896.3:c.394C>T

NP_005887.2:p.(R132C)

Pathogenic

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CDK4 NM_000075.4:c.355-1G>A

NP_000066.1:p.?

VUS

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ROS1 NM_002944.2:c.6100C>T

NP_002935.2:p.(L2034F)

VUS

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NTRK1 NM_002529.3:c.2004T>A

NP_002520.2:p.(D668E)

VUS

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MRE11 NM_005591.3:c.1602G>T

NP_005582.1:p.(E534D)

VUS

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FOXL2 NM_023067.4:c.469C>G

NP_075555.1:p.(P157A)

VUS

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MSH2 NM_000251.2:c.1511-1G>A

NP_000242.1:p.?

VUS

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TP53 NM_000546.6:c.390C>T

NP_000537.3:p.(L130=)

Likely Benign

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POLE NM_006231.3:c.1763T>C

NP_006222.2:p.(V588A)

Not classified

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CREBBP NM_004380.2:c.3780-2A>G

NP_004371.2:p.?

Likely Pathogenic

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NTRK2 NM_006180.4:c.1979C>T

NP_006171.2:p.(P660L)

Likely Benign

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MSH2 NM_000251.2:c.366+1G>A

NP_000242.1:p.?

VUS

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DICER1 NM_177438.2:c.3334A>G

NP_803187.1:p.(N1112D)

Likely Benign

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NOTCH2 NM_024408.3:c.6205C>A

NP_077719.2:p.(P2069T)

VUS

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ATRX NM_000489.5:c.371-1G>A

NP_000480.3:p.?

Not classified

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ATRX NM_000489.5:c.4434_4435del

NP_000480.3:p.(K1479Nfs*6)

Not classified

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NF2 NM_000268.3:c.1035G>A

NP_000259.1:p.(M345I)

Likely Benign

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MLH1 NM_000249.3:c.1738G>A

NP_000240.1:p.(A580T)

VUS

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CHEK1 NM_001274.5:c.965G>A

NP_001265.2:p.(R322H)

VUS

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NRAS NM_002524.5:c.183A>T

NP_002515.1:p.(Q61H)

Likely Pathogenic

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TERT NM_198253.2:c.1234C>T

NP_937983.2:p.(H412Y)

Benign

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NOTCH3 NM_000435.2:c.5032G>T

NP_000426.2:p.(E1678*)

Pathogenic

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MET NM_001127500.3:c.226G>A

NP_001120972.1:p.(E76K)

VUS

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ATRX NM_000489.5:c.3334A>G

NP_000480.3:p.(T1112A)

VUS

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BRIP1 NM_032043.3:c.736A>G

NP_114432.2:p.(I246V)

VUS

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PMS2 NM_000535.6:c.1321G>T

NP_000526.2:p.(E441*)

VUS

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RB1 NM_000321.2:c.743G>C

NP_000312.2:p.(G248A)

VUS

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STK11 NM_000455.5:c.388G>T

NP_000446.1:p.(E130*)

Pathogenic

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CDK12 NM_016507.4:c.162del

NP_057591.2:p.(L55Wfs*2)

Likely Pathogenic

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CDKN2A NM_000077.4:c.52_83del

NP_000068.1:p.(T18Afs*15)

Not classified

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FBXW7 NM_033632.3:c.1436G>T

NP_361014.1:p.(R479L)

Likely Pathogenic

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PMS2 NM_000535.7:c.2186_2187del

NP_000526.2:p.(L729Qfs*6)

Benign

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GBA1 NM_000157.4:c.1504C>T

NP_000148.2:p.(R502C)

Likely Pathogenic

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EZHIP NM_203407.3:c.551A>G

NP_981952.1:p.(Y184C)

VUS

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FGFR1 NM_023110.3:c.2267G>A

NP_075598.2:p.(R756H)

VUS

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CDH1 NM_004360.5:c.2077G>A

NP_004351.1:p.(G693S)

VUS

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BRCA1 NM_007294.4:c.4689C>G

NP_009225.1:p.(Y1563*)

Pathogenic

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KIT NM_000222.2:c.1679_1738delinsATG

NP_000213.1:p.(V560_H580delinsDD)

VUS

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SETD2 NM_014159.6:c.4264C>T

NP_054878.5:p.(Q1422*)

VUS

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TET2 NM_001127208.2:c.3765C>G

NP_001120680.1:p.(Y1255*)

Likely Pathogenic

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DNMT3A NM_022552.4:c.1555-13C>A

NP_072046.2:p.?

VUS

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MSH2 NM_000251.3:c.2001_2002del

NP_000242.1:p.(T668Wfs*7)

VUS

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POLE NM_006231.4:c.6816G>A

NP_006222.2:p.(E2272=)

VUS

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POLE NM_006231.4:c.6150C>A

NP_006222.2:p.(F2050L)

VUS

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POLE NM_006231.4:c.4952+13C>A

NP_006222.2:p.?

VUS

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CDKN2A NM_001195132.1:c.322G>A

NP_001182061.1:p.(D108N)

VUS

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HRAS NM_005343.4:c.37_39delinsAAA

NP_005334.1:p.(G13K)

VUS

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NOTCH3 NM_000435.2:c.3452G>A

NP_000426.2:p.(G1151E)

VUS

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PIK3R1 NM_181523.2:c.1585_1587del

NP_852664.1:p.(D529del)

VUS

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MSH6 NM_000179.2:c.1483C>T

NP_000170.1:p.(R495*)

Pathogenic

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ESR1 NM_001122740.1:c.1519C>T

NP_001116212.1:p.(L507F)

VUS

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ERBB2 NM_004448.3:c.3582del

NP_004439.2:p.(E1195Sfs*3)

VUS

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ZRSR2 NM_005089.3:c.398_399del

NP_005080.1:p.(E133Gfs*11)

Likely Pathogenic

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RUNX1 NM_001754.4:c.714C>A

NP_001745.2:p.(V238=)

VUS

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CDK12 NM_016507.4:c.3424T>A

NP_057591.2:p.(S1142T)

VUS

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SMARCB1 NM_003073.4:c.1120C>T

NP_003064.2:p.(R374W)

Likely Pathogenic

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CHEK2 NM_007194.4:c.1604G>A

NP_009125.1:p.(R535H)

Not classified

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ARID1A NM_006015.5:c.2378_2396del

NP_006006.3:p.(M793Rfs*34)

Pathogenic

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POLE NM_006231.4:c.3386A>G

NP_006222.2:p.(D1129G)

VUS

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TP53 NM_000546.6:c.375+13G>A

NP_000537.3:p.?

VUS

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CTNNB1 NM_001098209.2:c.674G>A

NP_001091679.1:p.(R225H)

VUS

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PIK3CA NM_006218.4:c.397G>A

NP_006209.2:p.(D133N)

VUS

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KRAS NM_033360.4:c.40G>A

NP_203524.1:p.(V14I)

Pathogenic

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CTNNB1 NM_001904.4:c.362A>C

NP_001895.1:p.(N121T)

VUS

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PTEN NM_000314.8:c.532T>G

NP_000305.3:p.(Y178D)

VUS

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PTEN NM_000314.8:c.1211G>T

NP_000305.3:p.(*404Lext*8)

VUS

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PTEN NM_000314.8:c.923del

NP_000305.3:p.(R308Lfs*9)

Likely Pathogenic

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CDK12 NM_016507.4:c.1601C>T

NP_057591.2:p.(S534F)

VUS

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CREBBP NM_004380.2:c.3710G>C

NP_004371.2:p.(C1237S)

VUS

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