Variant repository

RUNX1 NM_001001890.2:c.619A>G

NP_001001890.1:p.(T207A)

VUS

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HRAS NM_176795.4:c.277A>G

NP_789765.1:p.(I93V)

VUS

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SH2B3 NM_005475.2:c.*2C>T

NP_005466.1:p.?

VUS

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TET2 NM_001127208.2:c.1452T>A

NP_001120680.1:p.(C484*)

Likely Pathogenic

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NF1 NM_000267.3:c.2033C>T

NP_000258.1:p.(P678L)

VUS

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ASXL1 NM_015338.5:c.3802A>G

NP_056153.2:p.(T1268A)

VUS

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RUNX1 NM_001754.4:c.444C>T

NP_001745.2:p.(T148=)

Likely Benign

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TET2 NM_001127208.2:c.4164_4167del

NP_001120680.1:p.(M1388Ifs*59)

Likely Pathogenic

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SETBP1 NM_015559.2:c.1313C>A

NP_056374.2:p.(A438D)

VUS

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EZH2 NM_004456.4:c.1797G>A

NP_004447.2:p.(W599*)

Likely Pathogenic

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TERT NM_198253.2:c.3184G>A

NP_937983.2:p.(A1062T)

Benign

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BCOR NM_017745.5:c.4677C>T

NP_060215.4:p.(D1559=)

VUS

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DNMT3A NM_022552.4:c.1475-19C>T

NP_072046.2:p.?

VUS

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ZRSR2 NM_005089.3:c.812A>G

NP_005080.1:p.(Y271C)

VUS

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MAP2K2 NM_030662.4:c.383C>A

NP_109587.1:p.(P128Q)

VUS

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RAF1 NM_002880.4:c.1193G>T

NP_002871.1:p.(R398L)

VUS

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MAP2K1 NM_002755.4:c.158T>C

NP_002746.1:p.(F53S)

VUS

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FBXO31 NM_024735.5:c.1000G>A

NP_079011.3:p.(D334N)

Likely Pathogenic

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ATM NM_000051.4:c.2222A>G

NP_000042.3:p.(Y741C)

VUS

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MSH2 NM_000251.3:c.182A>C

NP_000242.1:p.(Q61P)

VUS

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STK11 NM_000455.5:c.*16+7C>T

NP_000446.1:p.?

VUS

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LZTR1 NM_006767.4:c.2417T>G

NP_006758.2:p.(L806W)

VUS

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LZTR1 NM_006767.4:c.2412dup

NP_006758.2:p.(K805Qfs*46)

VUS

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STK11 NM_000455.5:c.22C>G

NP_000446.1:p.(Q8E)

VUS

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PALB2 NM_024675.4:c.1058A>T

NP_078951.2:p.(K353I)

VUS

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BARD1 NM_000465.4:c.62G>T

NP_000456.2:p.(R21L)

VUS

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PALB2 NM_024675.4:c.968C>T

NP_078951.2:p.(A323V)

VUS

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LZTR1 NM_006767.4:c.2219+13C>T

NP_006758.2:p.?

Benign

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PMS2 NM_000535.7:c.23+32dup

NP_000526.2:p.?

Likely Benign

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PALB2 NM_024675.4:c.1042C>A

NP_078951.2:p.(Q348K)

VUS

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BRIP1 NM_032043.3:c.3069C>T

NP_114432.2:p.(L1023=)

VUS

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FLCN NM_144997.7:c.1333G>A

NP_659434.2:p.(A445T)

Benign

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MSH6 NM_000179.3:c.942C>G

NP_000170.1:p.(S314R)

VUS

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PTEN NM_000314.8:c.434T>G

NP_000305.3:p.(F145C)

VUS

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POLE NM_006231.4:c.2044G>A

NP_006222.2:p.(E682K)

VUS

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PTEN NM_000314.8:c.525del

NP_000305.3:p.(Y176Ifs*7)

Likely Pathogenic

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PTEN NM_000314.8:c.898dup

NP_000305.3:p.(I300Nfs*3)

Likely Pathogenic

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BRCA2 NM_000059.4:c.682-30A>C

NP_000050.3:p.?

Benign

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BRCA2 NM_000059.4:c.2820A>G

NP_000050.3:p.(Q940=)

Likely Benign

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BRCA2 NM_000059.4:c.8168A>C

NP_000050.3:p.(D2723A)

Likely Pathogenic

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BRCA1 NM_007294.4:c.301+7G>A

NP_009225.1:p.?

Likely Benign

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BRCA1 NM_007294.4:c.1233T>G

NP_009225.1:p.(D411E)

Benign

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BRCA2 NM_000059.4:c.831T>G

NP_000050.3:p.(N277K)

Benign

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BRCA1 NM_007294.4:c.68_69del

NP_009225.1:p.(E23Vfs*17)

Pathogenic

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BRCA2 NM_000059.4:c.9976A>T

NP_000050.3:p.(K3326*)

Benign

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BRCA2 NM_000059.4:c.9227G>T

NP_000050.3:p.(G3076V)

Likely Pathogenic

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BRCA2 NM_000059.4:c.9117G>A

NP_000050.3:p.(P3039=)

VUS

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BRCA2 NM_000059.4:c.8149G>T

NP_000050.3:p.(A2717S)

Benign

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BRCA2 NM_000059.4:c.663T>G

NP_000050.3:p.(F221L)

Likely Benign

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BRCA2 NM_000059.4:c.632-3C>G

NP_000050.3:p.?

VUS

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BRCA1 NM_007294.4:c.5089T>C

NP_009225.1:p.(C1697R)

Likely Pathogenic

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TP53 NM_000546.6:c.373A>C

NP_000537.3:p.(T125P)

Likely Pathogenic

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BRCA1 NM_007294.4:c.305C>G

NP_009225.1:p.(A102G)

Benign

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BRCA1 NM_007294.4:c.2155A>G

NP_009225.1:p.(K719E)

Benign

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BRCA1 NM_007294.4:c.212+3A>G

NP_009225.1:p.?

Likely Pathogenic

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BRCA2 NM_000059.4:c.8023A>G

NP_000050.3:p.(I2675V)

Pathogenic

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BRCA1 NM_007294.4:c.442-22_442-13del

NP_009225.1:p.?

Likely Pathogenic

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BRCA2 NM_000059.4:c.7977-1G>C

NP_000050.3:p.?

Likely Pathogenic

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BRCA1 NM_007294.4:c.5194-12G>A

NP_009225.1:p.?

Likely Pathogenic

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BRCA2 NM_000059.4:c.9234C>T

NP_000050.3:p.(V3078=)

Likely Benign

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BRCA1 NM_007294.4:c.191G>A

NP_009225.1:p.(C64Y)

Pathogenic

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BRCA2 NM_000059.4:c.7879A>T

NP_000050.3:p.(I2627F)

VUS

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BRCA1 NM_007294.4:c.135-1G>T

NP_009225.1:p.?

Pathogenic

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BRCA1 NM_007294.4:c.5509T>G

NP_009225.1:p.(W1837G)

VUS

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BRCA1 NM_007294.4:c.5090G>A

NP_009225.1:p.(C1697Y)

Likely Pathogenic

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PALB2 NM_024675.4:c.1432T>C

NP_078951.2:p.(S478P)

VUS

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MLH1 NM_000249.4:c.1682A>G

NP_000240.1:p.(Y561C)

VUS

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PMS2 NM_000535.7:c.321G>A

NP_000526.2:p.(R107=)

Likely Benign

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TP53 NM_000546.5:c.215C>G

NP_000537.3:p.(P72R)

Benign

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PTEN NM_000314.8:c.418_430del

NP_000305.3:p.(L140Nfs*3)

Likely Pathogenic

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ATM NM_000051.4:c.8315del

NP_000042.3:p.(G2772Efs*34)

Pathogenic

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BRCA2 NM_000059.4:c.29_63del

NP_000050.3:p.(T10Sfs*9)

Pathogenic

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PTEN NM_000314.8:c.548del

NP_000305.3:p.(K183Rfs*16)

Likely Pathogenic

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POLE NM_006231.4:c.2172G>A

NP_006222.2:p.(A724=)

VUS

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BRCA2 NM_000059.4:c.9014_9015del

NP_000050.3:p.(R3005Ifs*12)

Pathogenic

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BRCA1 NM_007294.4:c.425C>A

NP_009225.1:p.(P142H)

Benign

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PALB2 NM_024675.4:c.2234A>G

NP_078951.2:p.(K745R)

Likely Benign

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EPCAM NM_002354.3:c.294C>G

NP_002345.2:p.(D98E)

VUS

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WT1 NM_024426.4:c.1107A>G

NP_077744.3:p.(R369=)

Benign

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NF1 NM_000267.3:c.8085A>G

NP_000258.1:p.(G2695=)

VUS

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KRAS NM_033360.2:c.34G>C

NP_203524.1:p.(G12R)

Likely Pathogenic

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IDH2 NM_002168.2:c.430G>C

NP_002159.2:p.(G144R)

VUS

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PPM1D NM_003620.3:c.1613del

NP_003611.1:p.(L538*)

Likely Pathogenic

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MPL NM_005373.2:c.1544G>T

NP_005364.1:p.(W515L)

Likely Pathogenic

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ANKRD26 NM_014915.2:c.-140C>G

NP_055730.2:p.?

Benign

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NF1 NM_000267.3:c.4686A>G

NP_000258.1:p.(E1562=)

VUS

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RUNX1 NM_001754.4:c.617dup

NP_001745.2:p.(H206Qfs*7)

Pathogenic

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PPM1D NM_003620.3:c.1440del

NP_003611.1:p.(A481Pfs*2)

VUS

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NF1 NM_000267.3:c.2747A>G

NP_000258.1:p.(N916S)

VUS

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DNMT3A NM_022552.4:c.2116G>C

NP_072046.2:p.(G706R)

VUS

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ASXL1 NM_015338.5:c.2822del

NP_056153.2:p.(P941Lfs*4)

Likely Pathogenic

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ATM NM_000051.4:c.7517_7520del

NP_000042.3:p.(R2506Tfs*3)

Pathogenic

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BRCA2 NM_000059.4:c.2830A>T

NP_000050.3:p.(K944*)

Pathogenic

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ATM NM_000051.4:c.2333A>G

NP_000042.3:p.(N778S)

VUS

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PIK3CA NM_006218.4:c.1255_1264delinsA

NP_006209.2:p.(H419_L422delinsM)

VUS

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PIK3CA NM_006218.4:c.1265del

NP_006209.2:p.(L422Wfs*6)

VUS

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PTEN NM_000314.8:c.743del

NP_000305.3:p.(P248Lfs*8)

Likely Pathogenic

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ATM NM_000051.4:c.8362C>T

NP_000042.3:p.(H2788Y)

VUS

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PALB2 NM_024675.4:c.2631G>C

NP_078951.2:p.(W877C)

VUS

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TP53 NM_000546.6:c.722C>A

NP_000537.3:p.(S241Y)

Likely Pathogenic

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