Variant repository

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)

—

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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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MLH1 NM_000249.3:c.1177C>A

NP_000240.1:p.(L393I)

VUS

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RAD50 NM_005732.3:c.221A>C

NP_005723.2:p.(Q74P)

Likely Benign

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EZHIP NM_203407.3:c.1308C>G

NP_981952.1:p.(N436K)

Benign

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RAD51B NM_133509.4:c.1111C>T

NP_598193.2:p.(Q371*)

VUS

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TERT NM_198253.2:c.26C>T

NP_937983.2:p.(A9V)

VUS

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CHEK1 NM_001274.5:c.1070G>A

NP_001265.2:p.(S357N)

VUS

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DDR2 NM_006182.3:c.298G>A

NP_006173.2:p.(V100M)

VUS

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EIF1AX NM_001412.4:c.43G>T

NP_001403.1:p.(G15C)

VUS

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CDK4 NM_000075.4:c.719G>C

NP_000066.1:p.(R240P)

VUS

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CDK4 NM_000075.3:c.322C>T

NP_000066.1:p.(P108S)

VUS

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CHEK2 NM_007194.4:c.1561C>T

NP_009125.1:p.(R521W)

—

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POLE NM_006231.4:c.4411C>T

NP_006222.2:p.(R1471C)

VUS

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FGF3 NM_005247.2:c.351del

NP_005238.1:p.(F117Lfs*41)

VUS

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CCND1 NM_053056.3:c.723G>A

NP_444284.1:p.(P241=)

Benign

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AR NM_000044.4:c.2653T>C

NP_000035.2:p.(S885P)

VUS

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CHEK2 NM_007194.4:c.58C>T

NP_009125.1:p.(Q20*)

VUS

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TP53 NM_000546.5:c.612_623del

NP_000537.3:p.(E204_D207del)

VUS

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ATM NM_000051.3:c.7527G>A

NP_000042.3:p.(M2509I)

VUS

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PTPN11 NM_002834.4:c.1505C>T

NP_002825.3:p.(S502L)

In progress — classification not generated yet.

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MYOC NM_000261.2:c.719A>G

NP_000252.1:p.(E240G)

VUS

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RAD51B NM_133509.4:c.121G>A

NP_598193.2:p.(V41M)

Likely Benign

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MSH2 NM_000251.3:c.630G>A

NP_000242.1:p.(M210I)

VUS

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RET NM_020975.5:c.2434del

NP_066124.1:p.(L812Cfs*57)

Likely Pathogenic

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NF1 NM_001042492.3:c.3496G>C

NP_001035957.1:p.(G1166R)

VUS

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MET NM_001127500.3:c.156_157delinsTT

NP_001120972.1:p.(Q53*)

Likely Pathogenic

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MYH7 NM_000257.4:c.4909G>A

NP_000248.2:p.(A1637T)

Likely Benign

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TSC2 NM_000548.4:c.4751T>C

NP_000539.2:p.(L1584P)

VUS

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IDH1 NM_005896.3:c.394C>A

NP_005887.2:p.(R132S)

Likely Pathogenic

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ROS1 NM_002944.2:c.5825G>A

NP_002935.2:p.(R1942Q)

VUS

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FANCI NM_001113378.1:c.1689T>G

NP_001106849.1:p.(S563R)

VUS

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FGFR2 NM_000141.4:c.1172T>G

NP_000132.3:p.(M391R)

Likely Pathogenic

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PTEN NM_000314.8:c.802-3T>A

NP_000305.3:p.?

VUS

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IDH2 NM_002168.3:c.516G>C

NP_002159.2:p.(R172S)

VUS

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FANCL NM_018062.3:c.2T>C

NP_060532.2:p.(M1?)

VUS

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NTRK1 NM_002529.3:c.1999G>A

NP_002520.2:p.(G667S)

VUS

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TSC1 NM_000368.4:c.1022C>T

NP_000359.1:p.(P341L)

Likely Benign

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ESR1 NM_001122740.1:c.970C>A

NP_001116212.1:p.(P324T)

VUS

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BRCA1 NM_007294.4:c.2347A>G

NP_009225.1:p.(I783V)

Benign

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EGFR NM_005228.4:c.2317_2319dup

NP_005219.2:p.(H773dup)

Likely Pathogenic

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SOX17 NM_022454.3:c.972_977dup

NP_071899.1:p.(Q324_H325dup)

Benign

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RECQL4 NM_004260.3:c.2569_2574del

NP_004251.3:p.(C857_T858del)

Benign

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MDC1 NM_014641.2:c.619_642del

NP_055456.2:p.(G207_F214del)

VUS

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BRCA2 NM_000059.3:c.5218_5223del

NP_000050.2:p.(L1740_S1741del)

Benign

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EGFL7 NM_016215.4:c.812_815del

NP_057299.1:p.(K271Tfs*37)

VUS

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FGFR1 NM_001174067.1:c.1731C>A

NP_001167538.1:p.(N577K)

Pathogenic

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ALK NM_004304.4:c.4148T>C

NP_004295.2:p.(I1383T)

VUS

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NOTCH1 NM_017617.5:c.3225G>A

NP_060087.3:p.(W1075*)

VUS

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MLH1 NM_000249.3:c.551C>G

NP_000240.1:p.(S184*)

VUS

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KRAS NM_033360.4:c.183A>C

NP_203524.1:p.(Q61H)

Likely Pathogenic

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MYC NM_002467.6:c.872G>C

NP_002458.2:p.(R291T)

VUS

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GNA11 NM_002067.5:c.604C>T

NP_002058.2:p.(R202W)

VUS

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SLX4 NM_032444.3:c.5242C>T

NP_115820.2:p.(Q1748*)

VUS

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SLX4 NM_032444.3:c.1732G>C

NP_115820.2:p.(E578Q)

VUS

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KIT NM_000222.2:c.1652_1663del

NP_000213.1:p.(P551_V555delinsL)

Likely Pathogenic

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TP53 NM_000546.6:c.395A>T

NP_000537.3:p.(K132M)

Likely Pathogenic

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TP53 NM_000546.6:c.610G>T

NP_000537.3:p.(E204*)

Likely Pathogenic

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PIK3CA NM_006218.4:c.2850A>G

NP_006209.2:p.(E950=)

VUS

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BRCA1 NM_007294.4:c.3170G>A

NP_009225.1:p.(S1057N)

VUS

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RAD51B NM_133509.4:c.428C>T

NP_598193.2:p.(T143I)

VUS

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POLE NM_006231.4:c.3959G>A

NP_006222.2:p.(R1320Q)

VUS

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CHEK1 NM_001274.5:c.709G>T

NP_001265.2:p.(A237S)

Likely Benign

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PTEN NM_000314.8:c.413A>G

NP_000305.3:p.(Y138C)

VUS

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PTEN NM_000314.8:c.802-29C>A

NP_000305.3:p.?

VUS

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PIK3CA NM_006218.4:c.1458C>T

NP_006209.2:p.(F486=)

VUS

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MSH2 NM_000251.2:c.367-1G>A

NP_000242.1:p.?

Pathogenic

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DICER1 NM_177438.2:c.1282G>C

NP_803187.1:p.(E428Q)

VUS

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FBXW7 NM_033632.3:c.1514G>T

NP_361014.1:p.(R505L)

VUS

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NF2 NM_000268.3:c.316G>T

NP_000259.1:p.(E106*)

Pathogenic

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ROS1 NM_002944.2:c.6565G>T

NP_002935.2:p.(D2189Y)

VUS

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MYC NM_002467.5:c.956C>T

NP_002458.2:p.(T319I)

VUS

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SMARCA4 NM_001128849.1:c.335C>T

NP_001122321.1:p.(P112L)

VUS

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BARD1 NM_000465.4:c.562C>T

NP_000456.2:p.(P188S)

VUS

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POLE NM_006231.3:c.3799G>A

NP_006222.2:p.(E1267K)

VUS

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GNAQ NM_002072.5:c.289C>T

NP_002063.2:p.(L97F)

VUS

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TET2 NM_001127208.2:c.822del

NP_001120680.1:p.(N275Ifs*18)

VUS

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