Variant repository

ATM NM_000051.4:c.9139C>T

NP_000042.3:p.(R3047*)

VUS

View →

ATM NM_000051.4:c.7486G>C

NP_000042.3:p.(G2496R)

VUS

View →

MBD4 NM_003925.3:c.89C>T

NP_003916.1:p.(P30L)

Likely Benign

View →

FBXW7 NM_033632.3:c.1697G>T

NP_361014.1:p.(W566L)

VUS

View →

DDR2 NM_006182.3:c.1753A>G

NP_006173.2:p.(M585V)

VUS

View →

ATM NM_000051.4:c.7974T>C

NP_000042.3:p.(N2658=)

Likely Benign

View →

RAD51D NM_002878.4:c.198G>T

NP_002869.3:p.(V66=)

Likely Benign

View →

PALB2 NM_024675.4:c.2580G>T

NP_078951.2:p.(E860D)

VUS

View →

SETD2 NM_014159.6:c.850del

NP_054878.5:p.(S284Pfs*17)

Likely Pathogenic

View →

BARD1 NM_000465.4:c.722C>G

NP_000456.2:p.(S241C)

Benign

View →

ATM NM_000051.4:c.5488A>G

NP_000042.3:p.(M1830V)

Likely Benign

View →

FANCD2 NM_033084.4:c.266A>G

NP_149075.2:p.(Y89C)

VUS

View →

KLLN NM_001126049.2:c.373C>T

NP_001119521.1:p.(R125W)

VUS

View →

TP53 NM_000546.6:c.473G>T

NP_000537.3:p.(R158L)

Pathogenic

View →

PIK3CA NM_006218.4:c.1324G>C

NP_006209.2:p.(A442P)

VUS

View →

DICER1 NM_177438.3:c.2997T>G

NP_803187.1:p.(L999=)

Benign

View →

ERBB2 NM_004448.3:c.256A>G

NP_004439.2:p.(I86V)

VUS

View →

FGFR4 NM_213647.2:c.317C>T

NP_998812.1:p.(S106F)

VUS

View →

H3C2 NM_003537.3:c.290G>C

NP_003528.1:p.(C97S)

VUS

View →

MAPK1 NM_002745.4:c.913G>C

NP_002736.3:p.(E305Q)

VUS

View →

PIK3CA NM_006218.3:c.2176G>A

NP_006209.2:p.(E726K)

Likely Pathogenic

View →

CBL NM_005188.3:c.1096-1_1096delinsTT

NP_005179.2:p.?

Likely Pathogenic

View →

KIT NM_000222.2:c.1990+8C>T

NP_000213.1:p.?

Likely Benign

View →

EZH2 NM_004456.4:c.1852-9A>C

NP_004447.2:p.?

Likely Benign

View →

TET2 NM_001127208.2:c.1413C>T

NP_001120680.1:p.(S471=)

VUS

View →

NF1 NM_000267.3:c.846G>A

NP_000258.1:p.(Q282=)

Benign

View →

EZH2 NM_004456.4:c.1966G>A

NP_004447.2:p.(A656T)

VUS

View →

CUX1 NM_001202543.1:c.2383C>G

NP_001189472.1:p.(L795V)

Likely Benign

View →

TET2 NM_001127208.2:c.2814_2815del

NP_001120680.1:p.(Q939Dfs*32)

VUS

View →

PHF6 NM_001015877.1:c.1003A>T

NP_001015877.1:p.(R335*)

VUS

View →

CHEK2 NM_007194.4:c.1597A>T

NP_009125.1:p.(T533S)

VUS

View →

PTEN NM_000314.8:c.544T>G

NP_000305.3:p.(L182V)

VUS

View →

U2AF1 NM_006758.2:c.101C>T

NP_006749.1:p.(S34F)

Likely Pathogenic

View →

POLE NM_006231.4:c.6531+4C>T

NP_006222.2:p.?

VUS

View →

CTNNB1 NM_001904.4:c.269G>A

NP_001895.1:p.(R90Q)

VUS

View →

PTEN NM_000314.8:c.638C>G

NP_000305.3:p.(P213R)

VUS

View →

JAK2 NM_004972.3:c.1849G>T

NP_004963.1:p.(V617F)

Pathogenic

View →

BRCA2 NM_000059.4:c.8633-24T>G

NP_000050.3:p.?

VUS

View →

BRCA2 NM_000059.4:c.10027G>T

NP_000050.3:p.(E3343*)

VUS

View →

BRCA2 NM_000059.4:c.5661G>A

NP_000050.3:p.(T1887=)

Likely Benign

View →

BCOR NM_017745.5:c.519C>T

NP_060215.4:p.(S173=)

Likely Benign

View →

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

NP_000258.1:p.?

Likely Benign

View →

TET2 NM_001127208.2:c.3796A>T

NP_001120680.1:p.(N1266Y)

VUS

View →

CTNNB1 NM_001904.4:c.-48-3dup

NP_001895.1:p.?

VUS

View →

CTNNB1 NM_001904.3:c.101_102delinsTT

NP_001895.1:p.(G34V)

VUS

View →

FGFR2 NM_000141.4:c.2141A>C

NP_000132.3:p.(K714T)

VUS

View →

PIK3CA NM_006218.4:c.112C>T

NP_006209.2:p.(R38C)

VUS

View →

NRAS NM_002524.5:c.35G>T

NP_002515.1:p.(G12V)

Pathogenic

View →

FANCL NM_018062.3:c.580A>G

NP_060532.2:p.(I194V)

VUS

View →

MLH1 NM_000249.4:c.2041G>A

NP_000240.1:p.(A681T)

Pathogenic

View →

ATM NM_000051.3:c.8174A>G

NP_000042.3:p.(D2725G)

VUS

View →

BRCA1 NM_007294.4:c.4189A>G

NP_009225.1:p.(R1397G)

VUS

View →

PTCH1 NM_000264.5:c.1085C>T

NP_000255.2:p.(T362I)

VUS

View →

ESR1 NM_001122740.1:c.1235G>A

NP_001116212.1:p.(R412K)

VUS

View →

RAD51C NM_058216.3:c.923C>G

NP_478123.1:p.(A308G)

VUS

View →

FH NM_000143.4:c.6C>T

NP_000134.2:p.(Y2=)

VUS

View →

BRCA2 NM_000059.4:c.6495G>A

NP_000050.3:p.(L2165=)

Likely Benign

View →

PMS2 NM_000535.7:c.830C>A

NP_000526.2:p.(T277K)

Benign

View →

MET NM_001127500.3:c.3852+5T>C

NP_001120972.1:p.?

Likely Benign

View →

BRIP1 NM_032043.3:c.611C>G

NP_114432.2:p.(S204C)

VUS

View →

RAD51C NM_058216.3:c.30G>T

NP_478123.1:p.(M10I)

VUS

View →

MDM4 NM_002393.4:c.1091G>T

NP_002384.2:p.(R364I)

VUS

View →

TP53 NM_000546.6:c.-29+121G>T

NP_000537.3:p.?

VUS

View →

ATM NM_000051.4:c.662+13_662+14del

NP_000042.3:p.?

Likely Benign

View →

TP53 NM_000546.6:c.716A>G

NP_000537.3:p.(N239S)

Likely Pathogenic

View →

POLE NM_006231.4:c.2778G>C

NP_006222.2:p.(E926D)

VUS

View →

RET NM_020975.6:c.2410G>T

NP_066124.1:p.(V804L)

Likely Pathogenic

View →

GNA11 NM_002067.5:c.626A>T

NP_002058.2:p.(Q209L)

Pathogenic

View →

MYC NM_002467.6:c.314G>A

NP_002458.2:p.(G105D)

VUS

View →

BRCA1 NM_007294.4:c.2182A>T

NP_009225.1:p.(R728*)

Pathogenic

View →

CDKN2A NM_000077.4:c.151G>T

NP_000068.1:p.(V51F)

VUS

View →

PPP2R1A NM_014225.5:c.739A>G

NP_055040.2:p.(T247A)

VUS

View →

GBA1 NM_000157.4:c.1279G>A

NP_000148.2:p.(E427K)

VUS

View →

TSC2 NM_000548.4:c.3581G>T

NP_000539.2:p.(W1194L)

VUS

View →

ATR NM_001184.3:c.5459_5460insC

NP_001175.2:p.(D1821*)

Likely Pathogenic

View →

SMARCA4 NM_001128849.1:c.1333C>T

NP_001122321.1:p.(Q445*)

Likely Pathogenic

View →

SMAD4 NM_005359.5:c.1067C>T

NP_005350.1:p.(P356L)

VUS

View →

PIK3R1 NM_181523.2:c.1345_1347del

NP_852664.1:p.(L449del)

VUS

View →

CHEK1 NM_001274.5:c.1148A>T

NP_001265.2:p.(K383I)

VUS

View →

MYD88 NM_001172567.1:c.818T>C

NP_001166038.1:p.(L273P)

Pathogenic

View →

BRCA2 NM_000059.3:c.9117+2T>C

NP_000050.2:p.?

Likely Pathogenic

View →

EZHIP NM_203407.3:c.616G>A

NP_981952.1:p.(A206T)

VUS

View →

MSH6 NM_000179.2:c.188C>T

NP_000170.1:p.(S63F)

VUS

View →

ERBB3 NM_001982.3:c.1008_1010inv

NP_001973.2:p.(G337Q)

VUS

View →

NFE2L2 NM_006164.4:c.101G>A

NP_006155.2:p.(R34Q)

VUS

View →

PTCH1 NM_000264.5:c.431G>A

NP_000255.2:p.(R144H)

VUS

View →

STAT3 NM_139276.2:c.1940A>T

NP_644805.1:p.(N647I)

VUS

View →

CTNNB1 NM_001904.3:c.47C>T

NP_001895.1:p.(P16L)

VUS

View →

MSH6 NM_000179.2:c.3412G>A

NP_000170.1:p.(G1138R)

VUS

View →

TSC1 NM_000368.5:c.2194C>T

NP_000359.1:p.(H732Y)

Likely Benign

View →

MYCL NM_001033082.2:c.688A>C

NP_001028254.2:p.(M230L)

VUS

View →

SMARCB1 NM_003073.4:c.787A>G

NP_003064.2:p.(I263V)

VUS

View →

MAX NM_002382.4:c.184del

NP_002373.3:p.(Q62Kfs*3)

Likely Pathogenic

View →

MSH2 NM_000251.3:c.2197G>A

NP_000242.1:p.(A733T)

VUS

View →

ALK NM_004304.4:c.4033G>A

NP_004295.2:p.(G1345R)

VUS

View →

TSC2 NM_000548.5:c.4006-8C>T

NP_000539.2:p.?

Benign

View →

TSC1 NM_000368.5:c.1438+6G>A

NP_000359.1:p.?

VUS

View →

CREBBP NM_004380.2:c.3609+1G>T

NP_004371.2:p.?

VUS

View →

PMS2 NM_000535.7:c.14A>T

NP_000526.2:p.(E5V)

VUS

View →

MLH3 NM_001040108.2:c.3637G>A

NP_001035197.1:p.(E1213K)

VUS

View →