Variant repository

GJB2 NM_004004.6:c.109G>A

NP_003995.2:p.(V37I)

VUS

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GNA11 NM_002067.5:c.626A>C

NP_002058.2:p.(Q209P)

Likely Pathogenic

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FGFR3 NM_000142.5:c.1138G>A

NP_000133.1:p.(G380R)

Pathogenic

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BRAF NM_004333.6:c.1790T>G

NP_004324.2:p.(L597R)

VUS

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CFTR NM_000492.4:c.3909C>G

NP_000483.3:p.(N1303K)

Likely Pathogenic

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ALK NM_004304.5:c.3586C>A

NP_004295.2:p.(L1196M)

VUS

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HFE NM_000410.4:c.193A>T

NP_000401.1:p.(S65C)

VUS

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U2AF1 NM_006758.3:c.470A>C

NP_006749.1:p.(Q157P)

VUS

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PKP2 NM_001005242.3:c.2014-1G>C

NP_001005242.2:p.?

Pathogenic

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SRSF2 NM_003016.4:c.284C>A

NP_003007.2:p.(P95H)

VUS

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CFTR NM_000492.4:c.1624G>T

NP_000483.3:p.(G542*)

Pathogenic

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ASXL1 NM_015338.6:c.1934dup

NP_056153.2:p.(G646Wfs*12)

Likely Pathogenic

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TP53 NM_000546.6:c.710T>C

NP_000537.3:p.(M237T)

VUS

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DHCR7 NM_001360.3:c.964-1G>C

NP_001351.2:p.?

Pathogenic

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EZH2 NM_004456.5:c.1936T>A

NP_004447.2:p.(Y646N)

Likely Pathogenic

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BLM NM_000057.4:c.2207_2212delinsTAGATTC

NP_000048.1:p.(Y736Lfs*5)

Pathogenic

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RAC1 NM_018890.4:c.85C>T

NP_061485.1:p.(P29S)

Pathogenic

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HEXA NM_000520.6:c.1421+1G>C

NP_000511.2:p.?

Likely Pathogenic

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POLE NM_006231.4:c.1231G>T

NP_006222.2:p.(V411L)

Pathogenic

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PMS2 NM_000535.7:c.137G>T

NP_000526.2:p.(S46I)

VUS

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ESR1 NM_000125.4:c.1613A>G

NP_000116.2:p.(D538G)

Likely Pathogenic

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SPINK1 NM_001379610.1:c.101A>G

NP_001366539.1:p.(N34S)

Likely Benign

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IDH1 NM_005896.4:c.394C>G

NP_005887.2:p.(R132G)

Likely Pathogenic

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LMNA NM_170707.4:c.568C>T

NP_733821.1:p.(R190W)

Pathogenic

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ERBB2 NM_004448.4:c.2033G>A

NP_004439.2:p.(R678Q)

VUS

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ELP1 NM_003640.5:c.2204+6T>C

NP_003631.2:p.?

Pathogenic

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PALB2 NM_024675.4:c.509_510del

NP_078951.2:p.(R170Ifs*14)

Pathogenic

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BRCA1 NM_007294.4:c.3541G>A

NP_009225.1:p.(V1181I)

Benign

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BRAF NM_004333.6:c.1397G>T

NP_004324.2:p.(G466V)

VUS

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BMPR1A NM_004329.3:c.1420G>C

NP_004320.2:p.(V474L)

VUS

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PALB2 NM_024675.4:c.110G>A

NP_078951.2:p.(R37H)

VUS

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GBA1 NM_000157.4:c.1448T>C

NP_000148.2:p.(L483P)

Pathogenic

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SF3B1 NM_012433.4:c.1874G>A

NP_036565.2:p.(R625H)

VUS

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ASPA NM_000049.4:c.854A>C

NP_000040.1:p.(E285A)

Likely Pathogenic

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CTNNB1 NM_001904.4:c.98C>G

NP_001895.1:p.(S33C)

VUS

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NBN NM_002485.5:c.657_661del

NP_002476.2:p.(K219Nfs*16)

Pathogenic

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KRAS NM_004985.5:c.35G>C

NP_004976.2:p.(G12A)

VUS

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MLH1 NM_000249.4:c.350C>T

NP_000240.1:p.(T117M)

Likely Pathogenic

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PTEN NM_000314.8:c.254-3C>G

NP_000305.3:p.?

VUS

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FGFR3 NM_000142.5:c.742C>T

NP_000133.1:p.(R248C)

Pathogenic

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APC NM_000038.6:c.3927_3931del

NP_000029.2:p.(E1309Dfs*4)

VUS

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TP53 NM_000546.6:c.818G>A

NP_000537.3:p.(R273H)

Likely Pathogenic

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PTEN NM_000314.8:c.1082G>T

NP_000305.3:p.(S361I)

Likely Benign

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BRCA2 NM_000059.4:c.8167G>C

NP_000050.3:p.(D2723H)

Pathogenic

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PTEN NM_000314.8:c.127dup

NP_000305.3:p.(E43Gfs*9)

Likely Pathogenic

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PTEN NM_000314.8:c.69_73del

NP_000305.3:p.(L23Ffs*19)

Likely Pathogenic

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POLE NM_006231.4:c.1662C>A

NP_006222.2:p.(S554R)

VUS

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CTNNB1 NM_001904.4:c.1582C>T

NP_001895.1:p.(R528C)

VUS

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PIK3CA NM_006218.4:c.1037T>G

NP_006209.2:p.(V346G)

VUS

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PIK3CA NM_006218.4:c.2107_2121dup

NP_006209.2:p.(N703_E707dup)

VUS

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HRAS NM_005343.4:c.35G>T

NP_005334.1:p.(G12V)

Pathogenic

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RET NM_020975.6:c.2410G>A

NP_066124.1:p.(V804M)

VUS

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KIT NM_000222.3:c.1679T>A

NP_000213.1:p.(V560D)

Likely Pathogenic

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PTPN11 NM_002834.5:c.922A>G

NP_002825.3:p.(N308D)

VUS

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BRAF NM_004333.6:c.1742A>G

NP_004324.2:p.(N581S)

VUS

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SDHB NM_003000.3:c.137G>A

NP_002991.2:p.(R46Q)

Likely Pathogenic

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PIK3CA NM_006218.4:c.3140A>T

NP_006209.2:p.(H1047L)

VUS

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CFTR NM_000492.4:c.3718-2477C>T

NP_000483.3:p.?

VUS

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EGFR NM_005228.5:c.2156G>C

NP_005219.2:p.(G719A)

Likely Pathogenic

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GLA NM_000169.3:c.644A>G

NP_000160.1:p.(N215S)

VUS

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MAP2K1 NM_002755.4:c.167A>C

NP_002746.1:p.(Q56P)

Likely Pathogenic

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TTR NM_000371.4:c.238A>G

NP_000362.1:p.(T80A)

Likely Pathogenic

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IDH1 NM_005896.4:c.394C>A

NP_005887.2:p.(R132S)

Likely Pathogenic

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HBB NM_000518.5:c.93-21G>A

NP_000509.1:p.?

Pathogenic

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KIT NM_000222.3:c.1924A>G

NP_000213.1:p.(K642E)

Pathogenic

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ATM NM_000051.4:c.5890A>G

NP_000042.3:p.(K1964E)

VUS

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SDHB NM_003000.3:c.434A>G

NP_002991.2:p.(N145S)

VUS

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MLH1 NM_000249.4:c.232G>C

NP_000240.1:p.(E78Q)

VUS

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SDHD NM_003002.4:c.281C>G

NP_002993.1:p.(S94C)

VUS

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VHL NM_000551.4:c.500G>A

NP_000542.1:p.(R167Q)

Pathogenic

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FGFR1 NM_023110.3:c.1638C>A

NP_075598.2:p.(N546K)

VUS

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CDKN2A NM_000077.5:c.225_243del

NP_000068.1:p.(A76Cfs*64)

Pathogenic

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ERBB2 NM_004448.4:c.2329G>T

NP_004439.2:p.(V777L)

VUS

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PRSS1 NM_002769.5:c.365G>A

NP_002760.1:p.(R122H)

Likely Pathogenic

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ATM NM_000051.4:c.3802del

NP_000042.3:p.(V1268*)

Pathogenic

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ALK NM_004304.5:c.3522C>A

NP_004295.2:p.(F1174L)

Pathogenic

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APOL1 NM_003661.4:c.1024A>G

NP_003652.2:p.(S342G)

VUS

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ATM NM_000051.4:c.6602T>C

NP_000042.3:p.(V2201A)

VUS

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PIK3CA NM_006218.4:c.1035T>A

NP_006209.2:p.(N345K)

VUS

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PRNP NM_000311.5:c.598G>A

NP_000302.1:p.(E200K)

Likely Pathogenic

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ACVR1 NM_001111067.4:c.617G>A

NP_001104537.1:p.(R206H)

Pathogenic

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CTNNB1 NM_001904.4:c.115_135del

NP_001895.1:p.(A39_S45del)

VUS

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BRCA1 NM_007294.4:c.4683C>G

NP_009225.1:p.(T1561=)

VUS

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MYBPC3 NM_000256.3:c.2373dup

NP_000247.2:p.(W792Vfs*41)

Pathogenic

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EGFR NM_005228.5:c.2303G>T

NP_005219.2:p.(S768I)

Likely Pathogenic

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HNF1A NM_000545.8:c.872dup

NP_000536.6:p.(G292Rfs*25)

Benign

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NOTCH1 NM_017617.5:c.7541_7542del

NP_060087.3:p.(P2514Rfs*4)

VUS

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KCNQ1 NM_000218.3:c.1032G>A

NP_000209.2:p.(A344=)

Likely Pathogenic

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MED12 NM_005120.3:c.131G>A

NP_005111.2:p.(G44D)

Likely Pathogenic

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ACADM NM_000016.6:c.985A>G

NP_000007.1:p.(K329E)

Pathogenic

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CXCR4 NM_003467.3:c.1013C>G

NP_003458.1:p.(S338*)

Pathogenic

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FGFR2 NM_000141.5:c.758C>G

NP_000132.3:p.(P253R)

Pathogenic

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STAT3 NM_139276.3:c.1919A>T

NP_644805.1:p.(Y640F)

Likely Pathogenic

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LDLR NM_000527.5:c.691T>G

NP_000518.1:p.(C231G)

VUS

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RAC1 NM_006908.5:c.85C>T

NP_008839.2:p.(P29S)

VUS

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BTD NM_001370658.1:c.1270G>C

NP_001357587.1:p.(D424H)

Likely Pathogenic

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MAP2K1 NM_002755.4:c.171G>T

NP_002746.1:p.(K57N)

Likely Pathogenic

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PKP2 NM_004572.4:c.2146-1G>C

NP_004563.2:p.?

Pathogenic

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PTPN11 NM_002834.5:c.226G>A

NP_002825.3:p.(E76K)

VUS

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CBL NM_005188.4:c.1111T>C

NP_005179.2:p.(Y371H)

Pathogenic

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