Variant repository

ATM NM_000051.4:c.4574T>C

NP_000042.3:p.(I1525T)

VUS

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MSH2 NM_000251.3:c.1132del

NP_000242.1:p.(E378Kfs*34)

VUS

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KRAS NM_033360.3:c.35_37delinsATT

NP_203524.1:p.(G12_G13delinsDC)

VUS

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ATM NM_000051.3:c.4110_4111delinsAA

NP_000042.3:p.(D1371N)

VUS

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BARD1 NM_000465.4:c.1788del

NP_000456.2:p.(K596Nfs*9)

Pathogenic

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EGFR NM_005228.4:c.2314_2319dup

NP_005219.2:p.(P772_H773dup)

VUS

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AR NM_000044.4:c.515C>T

NP_000035.2:p.(P172L)

VUS

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NOTCH2 NM_024408.3:c.7354C>T

NP_077719.2:p.(Q2452*)

VUS

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RAD54L NM_003579.4:c.888C>T

NP_003570.2:p.(D296=)

Likely Benign

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STK11 NM_000455.5:c.249G>A

NP_000446.1:p.(K83=)

Likely Benign

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PMS2 NM_000535.7:c.86G>C

NP_000526.2:p.(G29A)

VUS

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BRCA2 NM_000059.4:c.8673_8674del

NP_000050.3:p.(R2892Tfs*14)

Pathogenic

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BRCA1 NM_007294.4:c.4935G>C

NP_009225.1:p.(R1645S)

Benign

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BRIP1 NM_032043.3:c.1794+19T>C

NP_114432.2:p.?

VUS

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STK11 NM_000455.5:c.*9G>A

NP_000446.1:p.?

VUS

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RAD51D NM_002878.4:c.829C>G

NP_002869.3:p.(L277V)

VUS

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BRCA2 NM_000059.4:c.241T>C

NP_000050.3:p.(F81L)

Likely Benign

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CHEK1 NM_001274.5:c.922A>T

NP_001265.2:p.(S308C)

VUS

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BRCA1 NM_007294.4:c.1367T>C

NP_009225.1:p.(I456T)

Likely Benign

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MSH2 NM_000251.2:c.1381G>A

NP_000242.1:p.(D461N)

VUS

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BRAF NM_004333.5:c.1447A>G

NP_004324.2:p.(K483E)

VUS

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ESR1 NM_001122740.1:c.1661G>A

NP_001116212.1:p.(S554N)

VUS

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BARD1 NM_000465.4:c.1694G>A

NP_000456.2:p.(R565H)

Likely Benign

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PTEN NM_000314.8:c.106G>C

NP_000305.3:p.(G36R)

Pathogenic

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PIK3CA NM_006218.4:c.2937-15T>C

NP_006209.2:p.?

VUS

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KLLN NM_001126049.2:c.184C>G

NP_001119521.1:p.(R62G)

Benign

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EIF1AX NM_001412.4:c.26G>A

NP_001403.1:p.(G9D)

VUS

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CDKN2A NM_001195132.1:c.226del

NP_001182061.1:p.(A76Pfs*70)

Likely Pathogenic

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PTEN NM_000314.8:c.388_389insA

NP_000305.3:p.(R130Qfs*50)

Pathogenic

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PTEN NM_000314.8:c.106G>C

NP_000305.3:p.(G36R)

VUS

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KRAS NM_033360.4:c.-11-30T>C

NP_203524.1:p.?

Likely Benign

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NTRK1 NM_002529.3:c.334C>T

NP_002520.2:p.(H112Y)

VUS

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DNAH11 NM_001277115.2:c.4879C>T

NP_001264044.1:p.(R1627C)

VUS

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PIK3CA NM_006218.3:c.3133G>A

NP_006209.2:p.(D1045N)

VUS

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FGFR4 NM_213647.2:c.1162G>A

NP_998812.1:p.(G388R)

Benign

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POLE NM_006231.4:c.1270C>A

NP_006222.2:p.(L424I)

Likely Pathogenic

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TERT NM_198253.2:c.2509C>T

NP_937983.2:p.(L837F)

VUS

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SF3B1 NM_012433.3:c.2352G>A

NP_036565.2:p.(M784I)

VUS

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PTCH1 NM_000264.5:c.113G>A

NP_000255.2:p.(G38E)

Likely Benign

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GNAS NM_000516.5:c.602G>A

NP_000507.1:p.(R201H)

Pathogenic

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CTNNB1 NM_001098209.2:c.110C>T

NP_001091679.1:p.(S37F)

Likely Pathogenic

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ALK NM_004304.4:c.3373G>A

NP_004295.2:p.(G1125S)

VUS

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MSH6 NM_000179.3:c.3602_3606delinsAA

NP_000170.1:p.(L1201_M1202delinsQ)

VUS

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EGFR NM_005228.4:c.2146A>G

NP_005219.2:p.(K716E)

VUS

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STAG2 NM_001042749.1:c.1018-1G>A

NP_001036214.1:p.?

Pathogenic

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TET2 NM_001127208.2:c.4354C>T

NP_001120680.1:p.(R1452*)

Likely Pathogenic

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PPM1D NM_003620.3:c.1535del

NP_003611.1:p.(N512Ifs*2)

Likely Pathogenic

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RNF43 NM_017763.5:c.1148T>C

NP_060233.3:p.(M383T)

Likely Benign

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ROS1 NM_002944.2:c.6497C>G

NP_002935.2:p.(S2166C)

VUS

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SF3B1 NM_012433.3:c.1874G>T

NP_036565.2:p.(R625L)

VUS

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FBXW7 NM_033632.3:c.1922C>G

NP_361014.1:p.(S641*)

Likely Pathogenic

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CDK6 NM_001259.8:c.197G>A

NP_001250.1:p.(R66K)

VUS

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NOTCH3 NM_000435.2:c.2299C>A

NP_000426.2:p.(R767S)

VUS

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PALB2 NM_024675.4:c.886dup

NP_078951.2:p.(M296Nfs*7)

Pathogenic

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DDX41 NM_016222.2:c.299-3C>T

NP_057306.2:p.?

In progress — classification not generated yet.

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RAD51D NM_002878.3:c.26G>C

NP_002869.3:p.(C9S)

Likely Benign

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KRAS NM_033360.3:c.460G>A

NP_203524.1:p.(D154N)

VUS

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KDR NM_002253.3:c.3299C>T

NP_002244.1:p.(S1100F)

VUS

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FANCL NM_018062.3:c.1A>G

NP_060532.2:p.(M1?)

VUS

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PMS2 NM_000535.7:c.2380C>T

NP_000526.2:p.(P794S)

VUS

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MSH2 NM_000251.3:c.1132del

NP_000242.1:p.(E378Kfs*34)

VUS

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POLD1 NM_002691.4:c.2716_2717del

NP_002682.2:p.(R906Dfs*47)

Likely Pathogenic

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MLH1 NM_000249.4:c.1515T>C

NP_000240.1:p.(S505=)

Likely Benign

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MLH1 NM_000249.4:c.307-1G>A

NP_000240.1:p.?

VUS

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SMAD4 NM_005359.5:c.1082G>A

NP_005350.1:p.(R361H)

Pathogenic

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FANCA NM_000135.3:c.2942G>C

NP_000126.2:p.(C981S)

VUS

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PALB2 NM_024675.4:c.740C>G

NP_078951.2:p.(T247R)

VUS

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CDK4 NM_000075.4:c.71G>T

NP_000066.1:p.(R24L)

Likely Pathogenic

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KEAP1 NM_012289.4:c.887G>A

NP_036421.2:p.(R296H)

Benign

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POLE NM_006231.3:c.4189C>A

NP_006222.2:p.(L1397I)

VUS

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PIK3CA NM_006218.3:c.370C>T

NP_006209.2:p.(P124S)

VUS

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ROS1 NM_002944.2:c.5977G>A

NP_002935.2:p.(E1993K)

VUS

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AR NM_000044.4:c.59G>A

NP_000035.2:p.(R20Q)

VUS

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DICER1 NM_177438.2:c.5125G>C

NP_803187.1:p.(D1709H)

Likely Pathogenic

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STK11 NM_000455.4:c.717G>C

NP_000446.1:p.(W239C)

Likely Pathogenic

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ESR1 NM_001122740.1:c.1150C>G

NP_001116212.1:p.(L384V)

VUS

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NRAS NM_002524.5:c.182A>G

NP_002515.1:p.(Q61R)

Pathogenic

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ESR1 NM_001122740.1:c.173C>T

NP_001116212.1:p.(A58V)

VUS

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FGFR2 NM_000141.4:c.1223A>C

NP_000132.3:p.(D408A)

VUS

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EIF1AX NM_001412.4:c.17G>T

NP_001403.1:p.(G6V)

VUS

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NBN NM_002485.4:c.657_661del

NP_002476.2:p.(K219Nfs*16)

Pathogenic

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CDKN2B NM_004936.3:c.125G>A

NP_004927.2:p.(G42E)

VUS

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BRCA1 NM_007294.3:c.1568T>G

NP_009225.1:p.(L523W)

Likely Benign

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TERT NM_198253.2:c.875C>T

NP_937983.2:p.(T292M)

VUS

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NTRK2 NM_006180.4:c.1937G>A

NP_006171.2:p.(R646K)

VUS

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MYC NM_002467.6:c.779C>A

NP_002458.2:p.(P260Q)

VUS

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NTRK1 NM_002529.3:c.316G>A

NP_002520.2:p.(V106M)

VUS

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CDK12 NM_016507.4:c.86G>C

NP_057591.2:p.(S29T)

VUS

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ATR NM_001184.3:c.1316A>G

NP_001175.2:p.(N439S)

VUS

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NOTCH1 NM_017617.5:c.1093C>T

NP_060087.3:p.(R365C)

VUS

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FANCI NM_001113378.1:c.2348A>G

NP_001106849.1:p.(D783G)

VUS

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CDK6 NM_001259.8:c.763C>T

NP_001250.1:p.(H255Y)

VUS

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H3-3A NM_002107.4:c.83A>T

NP_002098.1:p.(K28M)

VUS

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MYC NM_002467.5:c.154_156del

NP_002458.2:p.(Q52del)

VUS

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CDK6 NM_001259.8:c.880_955delinsTCTGGCTGGGCGGCAGGTGGGAATCCAGGTTTTCTTTGCACCTTTCC

NP_001250.1:p.(A294Sfs*31)

VUS

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GNAQ NM_002072.5:c.627A>C

NP_002063.2:p.(Q209H)

Likely Pathogenic

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FOXL2 NM_023067.4:c.297_311del

NP_075555.1:p.(Q99_R103del)

VUS

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MUTYH NM_001128425.2:c.690+12G>T

NP_001121897.1:p.?

Likely Benign

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RPS20 NM_001023.4:c.24A>G

NP_001014.1:p.(K8=)

Likely Benign

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CDK6 NM_001259.8:c.745C>T

NP_001250.1:p.(L249F)

VUS

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