Variant repository

BRAF NM_004333.5:c.1661T>C

NP_004324.2:p.(I554T)

VUS

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FBXW7 NM_033632.3:c.1697G>T

NP_361014.1:p.(W566L)

VUS

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PIK3CA NM_006218.4:c.2042G>C

NP_006209.2:p.(S681T)

VUS

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PSEN1 NM_000021.3:c.1234G>A

NP_000012.1:p.(V412I)

VUS

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SF3B1 NM_012433.3:c.2263C>T

NP_036565.2:p.(P755S)

VUS

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PTEN NM_000314.6:c.253+1G>A

NP_000305.3:p.?

Pathogenic

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PIK3R1 NM_181523.2:c.1011T>G

NP_852664.1:p.(D337E)

VUS

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DDR2 NM_006182.3:c.1723G>C

NP_006173.2:p.(G575R)

VUS

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POLD1 NM_001308632.1:c.319C>T

NP_001295561.1:p.(P107S)

VUS

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ATM NM_000051.4:c.2689T>A

NP_000042.3:p.(F897I)

Likely Benign

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SLC12A3 NM_001126108.2:c.1670-191C>T

NP_001119580.2:p.?

Likely Pathogenic

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SLC12A3 NM_001126108.2:c.1670-191C>T

NP_001119580.2:p.?

VUS

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PKD1 NM_001009944.3:c.9850T>C

NP_001009944.3:p.(C3284R)

VUS

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RB1 NM_000321.2:c.2546_2547del

NP_000312.2:p.(N849Tfs*5)

Likely Pathogenic

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MSH6 NM_000179.2:c.440T>G

NP_000170.1:p.(L147R)

VUS

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ERBB3 NM_001982.3:c.244G>A

NP_001973.2:p.(E82K)

VUS

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EZHIP NM_203407.3:c.860_892del

NP_981952.1:p.(G287_P297del)

VUS

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EZHIP NM_203407.3:c.162C>T

NP_981952.1:p.(P54=)

VUS

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TP53 NM_000546.5:c.520A>T

NP_000537.3:p.(R174W)

VUS

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ETV6 NM_001987.4:c.329-15C>A

NP_001978.1:p.?

Likely Benign

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NF1 NM_000267.3:c.6084+8C>G

NP_000258.1:p.?

Benign

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PHF6 NM_001015877.1:c.834+53_834+58del

NP_001015877.1:p.?

Likely Benign

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PRPF8 NM_006445.3:c.471T>C

NP_006436.3:p.(D157=)

Likely Benign

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TET2 NM_001127208.2:c.5651C>A

NP_001120680.1:p.(T1884N)

VUS

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IDH2 NM_002168.3:c.515G>T

NP_002159.2:p.(R172M)

Likely Pathogenic

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TP53 NM_000546.6:c.-29+102T>G

NP_000537.3:p.?

Not classified

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BRCA2 NM_000059.4:c.3417G>A

NP_000050.3:p.(K1139=)

Likely Benign

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TSC2 NM_000548.5:c.3117G>A

NP_000539.2:p.(T1039=)

Likely Benign

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BRIP1 NM_032043.3:c.2085G>A

NP_114432.2:p.(L695=)

Likely Benign

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MLH1 NM_000249.4:c.1637A>G

NP_000240.1:p.(K546R)

VUS

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FGFR4 NM_213647.2:c.25G>A

NP_998812.1:p.(G9R)

VUS

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NOTCH3 NM_000435.2:c.3257A>C

NP_000426.2:p.(D1086A)

VUS

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MDM2 NM_002392.5:c.500G>A

NP_002383.2:p.(R167K)

VUS

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BRAF NM_004333.5:c.1330C>T

NP_004324.2:p.(R444W)

VUS

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KEAP1 NM_012289.4:c.445G>A

NP_036421.2:p.(E149K)

VUS

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FGFR1 NM_001174067.1:c.475G>A

NP_001167538.1:p.(E159K)

VUS

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APC NM_001127511.3:c.793C>T

NP_001120983.2:p.(R265*)

Likely Pathogenic

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FANCL NM_018062.3:c.238C>G

NP_060532.2:p.(L80V)

VUS

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BRCA2 NM_000059.3:c.3881T>G

NP_000050.2:p.(L1294*)

Pathogenic

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KMT2A NM_005933.3:c.8878G>T

NP_005924.2:p.(V2960L)

VUS

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TET2 NM_001127208.2:c.4139A>C

NP_001120680.1:p.(H1380P)

Likely Benign

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SH2B3 NM_005475.2:c.835-15C>T

NP_005466.1:p.?

VUS

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GATA2 NM_001145661.1:c.953C>T

NP_001139133.1:p.(A318V)

VUS

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TP53 NM_000546.5:c.684C>G

NP_000537.3:p.(D228E)

Likely Benign

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RAD51B NM_133509.4:c.226G>A

NP_598193.2:p.(A76T)

Likely Benign

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RICTOR NM_152756.4:c.3667G>T

NP_689969.2:p.(D1223Y)

VUS

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MSH2 NM_000251.3:c.1619G>C

NP_000242.1:p.(S540T)

VUS

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PALB2 NM_024675.4:c.1209G>A

NP_078951.2:p.(L403=)

Likely Benign

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PALB2 NM_024675.4:c.1652A>G

NP_078951.2:p.(Y551C)

VUS

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MSH6 NM_000179.3:c.643G>C

NP_000170.1:p.(V215L)

VUS

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PIK3R1 NM_181523.2:c.310A>G

NP_852664.1:p.(T104A)

VUS

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PTCH1 NM_000264.5:c.4251C>T

NP_000255.2:p.(H1417=)

Likely Benign

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LRRK2 NM_198578.3:c.2300G>A

NP_940980.3:p.(R767H)

Likely Benign

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LRRK2 NM_198578.3:c.4229C>T

NP_940980.3:p.(T1410M)

Benign

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PTEN NM_000314.6:c.33_54del

NP_000305.3:p.(N12Mfs*5)

Likely Pathogenic

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FANCD2 NM_033084.4:c.70A>G

NP_149075.2:p.(R24G)

VUS

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PALB2 NM_024675.4:c.205C>T

NP_078951.2:p.(H69Y)

VUS

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CBL NM_005188.3:c.1096-1G>T

NP_005179.2:p.?

Pathogenic

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BARD1 NM_000465.4:c.928T>G

NP_000456.2:p.(S310A)

VUS

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SMARCA4 NM_001128849.1:c.1944-1G>T

NP_001122321.1:p.?

Likely Pathogenic

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RAD51B NM_133509.4:c.476G>A

NP_598193.2:p.(R159H)

Likely Benign

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AKT1 NM_001014431.1:c.235_238delinsAAGG

NP_001014431.1:p.(Q79_W80delinsKG)

VUS

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SF3B1 NM_012433.3:c.1873C>A

NP_036565.2:p.(R625S)

VUS

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CFTR NM_000492.4:c.2723C>G

NP_000483.3:p.(T908S)

VUS

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MDM2 NM_002392.5:c.1036G>A

NP_002383.2:p.(E346K)

VUS

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PTEN NM_000314.8:c.368A>G

NP_000305.3:p.(H123R)

Likely Pathogenic

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POLE NM_006231.4:c.2468+16_2468+21dup

NP_006222.2:p.?

VUS

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AR NM_000044.4:c.455C>T

NP_000035.2:p.(P152L)

VUS

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SLX4 NM_032444.3:c.903G>C

NP_115820.2:p.(K301N)

Likely Benign

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CEBPA NM_004364.3:c.47_48delinsA

NP_004355.2:p.(S16Kfs*144)

VUS

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CEBPA NM_004364.3:c.926_928dup

NP_004355.2:p.(E309_T310insK)

Likely Pathogenic

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STK11 NM_000455.4:c.539_571delinsTGGTAGGGTGGCACCTC

NP_000446.1:p.(G180Vfs*102)

VUS

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KRAS NM_033360.3:c.179G>T

NP_203524.1:p.(G60V)

Likely Pathogenic

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EZHIP NM_203407.3:c.1504G>A

NP_981952.1:p.(E502K)

VUS

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CCND2 NM_001759.3:c.389C>A

NP_001750.1:p.(S130Y)

VUS

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FANCL NM_018062.3:c.233C>G

NP_060532.2:p.(P78R)

VUS

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NF1 NM_000267.3:c.2325+16C>G

NP_000258.1:p.?

Likely Benign

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FANCL NM_018062.3:c.524C>T

NP_060532.2:p.(A175V)

VUS

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CHEK1 NM_001274.5:c.157A>G

NP_001265.2:p.(K53E)

VUS

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CDH1 NM_004360.5:c.2053G>A

NP_004351.1:p.(V685M)

Likely Benign

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HNF1A NM_000545.6:c.341G>A

NP_000536.5:p.(R114H)

Likely Benign

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MBD4 NM_003925.3:c.89C>T

NP_003916.1:p.(P30L)

VUS

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BAP1 NM_004656.4:c.37+28G>A

NP_004647.1:p.?

Likely Benign

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POLE NM_006231.4:c.6748-18G>A

NP_006222.2:p.?

VUS

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RAD51D NM_002878.3:c.641C>T

NP_002869.3:p.(P214L)

VUS

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POLE NM_006231.4:c.6748-18G>A

NP_006222.2:p.?

VUS

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POT1 NM_015450.3:c.1884A>C

NP_056265.2:p.(T628=)

Benign

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PTCH1 NM_000264.5:c.3141T>G

NP_000255.2:p.(L1047=)

Benign

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ERBB2 NM_004448.3:c.2506C>A

NP_004439.2:p.(L836M)

VUS

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MLH1 NM_000249.3:c.1655C>T

NP_000240.1:p.(T552I)

VUS

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SLC2A2 NM_000340.2:c.1094G>A

NP_000331.1:p.(R365Q)

VUS

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SLC2A2 NM_000340.2:c.115_117del

NP_000331.1:p.(I39del)

VUS

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BAP1 NM_004656.4:c.376_382del

NP_004647.1:p.(S126Dfs*59)

VUS

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SMO NM_005631.4:c.1886G>C

NP_005622.1:p.(R629T)

VUS

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RAD50 NM_005732.3:c.2033_2034dup

NP_005723.2:p.(C680Hfs*41)

Likely Pathogenic

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RNF43 NM_017763.5:c.252+2C>G

NP_060233.3:p.?

Likely Pathogenic

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SMO NM_005631.4:c.1604G>T

NP_005622.1:p.(W535L)

Likely Pathogenic

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NTRK3 NM_001012338.2:c.428C>T

NP_001012338.1:p.(S143L)

VUS

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BAP1 NM_004656.4:c.37+28G>A

NP_004647.1:p.?

Likely Benign

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MSH6 NM_000179.3:c.1054G>A

NP_000170.1:p.(V352I)

VUS

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