Variant repository

PMS2 NM_000535.7:c.1169C>G

NP_000526.2:p.(A390G)

VUS

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MLH1 NM_000249.4:c.2044_2045del

NP_000240.1:p.(M682Vfs*11)

VUS

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MLH1 NM_000249.4:c.549T>A

NP_000240.1:p.(Y183*)

VUS

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PTEN NM_000314.8:c.1027-2A>C

NP_000305.3:p.?

Pathogenic

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PTEN NM_000314.8:c.700_701del

NP_000305.3:p.(R234Gfs*8)

Likely Pathogenic

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BRCA2 NM_000059.4:c.6546_6574del

NP_000050.3:p.(K2182Nfs*5)

Not classified

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BRCA2 NM_000059.4:c.7317A>G

NP_000050.3:p.(G2439=)

Likely Benign

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BRCA2 NM_000059.4:c.2164A>T

NP_000050.3:p.(K722*)

VUS

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TP53 NM_000546.6:c.1066G>C

NP_000537.3:p.(G356R)

Likely Benign

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FGFR4 NM_213647.2:c.770C>T

NP_998812.1:p.(A257V)

VUS

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CDKN2A NM_001195132.1:c.341C>T

NP_001182061.1:p.(P114L)

Pathogenic

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NRAS NM_002524.5:c.182A>T

NP_002515.1:p.(Q61L)

VUS

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MYCN NM_005378.5:c.926G>T

NP_005369.2:p.(G309V)

VUS

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CDKN2A NM_000077.4:c.76G>C

NP_000068.1:p.(E26Q)

VUS

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NF1 NM_001042492.2:c.*4T>C

NP_001035957.1:p.?

Benign

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SETBP1 NM_015559.2:c.1150A>G

NP_056374.2:p.(R384G)

VUS

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PRPF8 NM_006445.3:c.4639-17T>G

NP_006436.3:p.?

Benign

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NF1 NM_001042492.2:c.4836-2A>G

NP_001035957.1:p.?

Pathogenic

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ETV6 NM_001987.4:c.1204T>G

NP_001978.1:p.(Y402D)

VUS

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ASXL1 NM_015338.5:c.2148dup

NP_056153.2:p.(R717*)

VUS

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ZRSR2 NM_005089.3:c.983_984insGAA

NP_005080.1:p.(F328delinsLN)

VUS

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ETV6 NM_001987.4:c.642G>A

NP_001978.1:p.(P214=)

Benign

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RAD51C NM_058216.3:c.905-19T>C

NP_478123.1:p.?

VUS

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POLD1 NM_002691.4:c.1275C>T

NP_002682.2:p.(A425=)

Likely Benign

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SDHB NM_003000.3:c.158G>A

NP_002991.2:p.(G53E)

Benign

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MSH6 NM_000179.3:c.2463A>C

NP_000170.1:p.(L821=)

Likely Benign

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TSC1 NM_000368.5:c.163C>T

NP_000359.1:p.(Q55*)

Likely Pathogenic

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AXIN2 NM_004655.4:c.2013_2024del

NP_004646.3:p.(T672_R675del)

Benign

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CTNNA1 NM_001903.5:c.347G>A

NP_001894.2:p.(C116Y)

VUS

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APC NM_001127510.3:c.3479C>A

NP_001120982.1:p.(T1160K)

Likely Benign

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POLD1 NM_002691.4:c.653G>A

NP_002682.2:p.(R218H)

Likely Benign

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FANCD2 NM_033084.4:c.2255T>C

NP_149075.2:p.(I752T)

VUS

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NTHL1 NM_002528.7:c.31C>T

NP_002519.2:p.(R11W)

VUS

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NOTCH1 NM_017617.5:c.5885G>A

NP_060087.3:p.(R1962H)

VUS

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FGFR1 NM_001174067.1:c.1746C>A

NP_001167538.1:p.(C582*)

Likely Pathogenic

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PTEN NM_000314.6:c.674_675dup

NP_000305.3:p.(S226Ifs*31)

Likely Pathogenic

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CDKN2A NM_000077.4:c.221A>T

NP_000068.1:p.(D74V)

VUS

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NOTCH3 NM_000435.2:c.3192A>T

NP_000426.2:p.(E1064D)

VUS

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POLE NM_006231.4:c.941C>A

NP_006222.2:p.(S314*)

Likely Pathogenic

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KRAS NM_033360.4:c.292G>T

NP_203524.1:p.(E98*)

VUS

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POLE NM_006231.4:c.4519_4520del

NP_006222.2:p.(Q1507Afs*37)

Likely Pathogenic

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CHEK1 NM_001274.5:c.484C>T

NP_001265.2:p.(R162C)

VUS

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MSH2 NM_000251.3:c.712del

NP_000242.1:p.(Y238Ifs*8)

VUS

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PTEN NM_000314.8:c.775_781del

NP_000305.3:p.(H259Rfs*5)

Likely Pathogenic

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CTNNB1 NM_001904.4:c.134C>A

NP_001895.1:p.(S45Y)

VUS

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NOTCH2 NM_024408.3:c.5625del

NP_077719.2:p.(T1876Lfs*54)

Likely Pathogenic

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MLH1 NM_000249.4:c.1732-2A>G

NP_000240.1:p.?

Pathogenic

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SETD2 NM_014159.6:c.4260del

NP_054878.5:p.(E1420Dfs*12)

Likely Pathogenic

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COL4A2 NM_001846.4:c.4183C>T

NP_001837.2:p.(Q1395*)

VUS

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CDKN2A NM_000077.4:c.307_308insT

NP_000068.1:p.(R103Lfs*17)

Likely Pathogenic

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BRIP1 NM_032043.3:c.2593C>T

NP_114432.2:p.(R865W)

VUS

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PIK3R1 NM_181523.2:c.1126G>A

NP_852664.1:p.(G376R)

VUS

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SF3B1 NM_012433.3:c.2469G>A

NP_036565.2:p.(M823I)

VUS

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FBXW7 NM_033632.3:c.608C>T

NP_361014.1:p.(S203L)

VUS

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FBXW7 NM_033632.3:c.1436G>A

NP_361014.1:p.(R479Q)

Likely Pathogenic

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FGFR2 NM_000141.4:c.819C>G

NP_000132.3:p.(D273E)

VUS

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APC NM_001127510.3:c.8511T>C

NP_001120982.1:p.(S2837=)

Likely Benign

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BRCA2 NM_000059.4:c.2133C>T

NP_000050.3:p.(C711=)

Likely Benign

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ATM NM_000051.4:c.4394T>C

NP_000042.3:p.(L1465P)

VUS

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SDHB NM_003000.3:c.178A>G

NP_002991.2:p.(T60A)

VUS

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POLD1 NM_002691.4:c.1562G>A

NP_002682.2:p.(R521Q)

VUS

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CCNE1 NM_001238.4:c.617A>G

NP_001229.1:p.(Y206C)

VUS

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BRCA1 NM_007294.4:c.3260G>C

NP_009225.1:p.(G1087A)

Likely Benign

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BRCA1 NM_007294.4:c.3260G>C

NP_009225.1:p.(G1087A)

VUS

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HRAS NM_005343.4:c.173C>T

NP_005334.1:p.(T58I)

Likely Pathogenic

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HRAS NM_001130442.2:c.34G>A

NP_001123914.1:p.(G12S)

Pathogenic

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TP53 NM_000546.6:c.266_267del

NP_000537.3:p.(P89Lfs*59)

Likely Pathogenic

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ESR1 NM_001122740.1:c.1163T>A

NP_001116212.1:p.(M388K)

Likely Pathogenic

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TP53 NM_000546.6:c.1066G>C

NP_000537.3:p.(G356R)

Likely Benign

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TP53 NM_000546.6:c.1066G>C

NP_000537.3:p.(G356R)

Likely Benign

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EZHIP NM_203407.3:c.1379C>G

NP_981952.1:p.(S460C)

VUS

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KRAS NM_033360.3:c.35G>T

NP_203524.1:p.(G12V)

VUS

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ARID1A NM_006015.5:c.1217_1229dup

NP_006006.3:p.(P411Tfs*216)

Likely Pathogenic

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RET NM_020975.5:c.1837C>A

NP_066124.1:p.(P613T)

VUS

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NF1 NM_001042492.2:c.2190C>G

NP_001035957.1:p.(N730K)

VUS

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MET NM_001127500.2:c.3082G>C

NP_001120972.1:p.(D1028H)

VUS

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NTRK1 NM_002529.3:c.655G>A

NP_002520.2:p.(G219R)

VUS

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RAD51B NM_133509.4:c.82C>G

NP_598193.2:p.(Q28E)

VUS

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PTEN NM_000314.8:c.197_203del

NP_000305.3:p.(K66Tfs*31)

Likely Pathogenic

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DICER1 NM_177438.3:c.735-23A>G

NP_803187.1:p.?

Likely Benign

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MSH6 NM_000179.3:c.4002-16_4002-10del

NP_000170.1:p.?

VUS

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MLH1 NM_000249.4:c.1732-2A>G

NP_000240.1:p.?

Pathogenic

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FGFR3 NM_000142.4:c.1959C>T

NP_000133.1:p.(N653=)

VUS

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BRCA1 NM_007294.4:c.3260G>C

NP_009225.1:p.(G1087A)

VUS

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STK11 NM_000455.4:c.369G>A

NP_000446.1:p.(Q123=)

Benign

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HRAS NM_005343.4:c.7G>A

NP_005334.1:p.(E3K)

VUS

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CDK4 NM_000075.4:c.122A>G

NP_000066.1:p.(N41S)

VUS

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TSC2 NM_000548.4:c.5335del

NP_000539.2:p.(Q1779Rfs*47)

VUS

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FLT3 NM_004119.2:c.2515G>A

NP_004110.2:p.(D839N)

VUS

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CCND1 NM_053056.3:c.844G>A

NP_444284.1:p.(D282N)

VUS

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MYC NM_002467.6:c.221C>G

NP_002458.2:p.(P74R)

VUS

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NF2 NM_000268.3:c.778G>T

NP_000259.1:p.(E260*)

VUS

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KEAP1 NM_012289.4:c.1639G>A

NP_036421.2:p.(V547I)

VUS

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PIK3R1 NM_181523.2:c.1350_1374del

NP_852664.1:p.(H450Qfs*22)

Likely Pathogenic

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PIK3CA NM_006218.3:c.277C>T

NP_006209.2:p.(R93W)

VUS

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MYCN NM_005378.5:c.868A>G

NP_005369.2:p.(N290D)

VUS

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MSH6 NM_000179.2:c.3926C>A

NP_000170.1:p.(P1309Q)

VUS

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ATM NM_000051.3:c.1348G>T

NP_000042.3:p.(E450*)

Pathogenic

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FGFR2 NM_000141.4:c.2383G>A

NP_000132.3:p.(D795N)

VUS

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MSH6 NM_000179.2:c.2975A>G

NP_000170.1:p.(E992G)

VUS

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