Variant repository

PTEN NM_000314.8:c.844G>T

NP_000305.3:p.(G282*)

Pathogenic

View →

PIK3CA NM_006218.4:c.2016-11G>A

NP_006209.2:p.?

VUS

View →

DICER1 NM_177438.3:c.5437G>C

NP_803187.1:p.(E1813Q)

VUS

View →

EZHIP NM_203407.3:c.1272G>A

NP_981952.1:p.(Q424=)

Likely Benign

View →

SMAD4 NM_005359.5:c.1081C>A

NP_005350.1:p.(R361S)

Likely Pathogenic

View →

AR NM_000044.4:c.2683del

NP_000035.2:p.(M895*)

Likely Pathogenic

View →

FOXL2 NM_023067.4:c.402C>G

NP_075555.1:p.(C134W)

Likely Pathogenic

View →

TERT NM_198253.2:c.3334C>A

NP_937983.2:p.(L1112M)

VUS

View →

JAK3 NM_000215.3:c.1531A>G

NP_000206.2:p.(M511V)

VUS

View →

NTRK1 NM_002529.3:c.1334G>A

NP_002520.2:p.(R445K)

VUS

View →

KMT2A NM_005933.3:c.7362T>C

NP_005924.2:p.(T2454=)

Likely Benign

View →

TET2 NM_001127208.2:c.5666C>T

NP_001120680.1:p.(P1889L)

VUS

View →

PRPF8 NM_006445.3:c.5352C>T

NP_006436.3:p.(N1784=)

Likely Benign

View →

TERT NM_198253.2:c.2781A>G

NP_937983.2:p.(L927=)

VUS

View →

ASXL1 NM_015338.5:c.2694G>A

NP_056153.2:p.(W898*)

VUS

View →

TET2 NM_001127208.2:c.2152del

NP_001120680.1:p.(L718Ffs*33)

Likely Pathogenic

View →

SETBP1 NM_015559.2:c.2953A>G

NP_056374.2:p.(I985V)

VUS

View →

RB1 NM_000321.2:c.345_351del

NP_000312.2:p.(F115Lfs*8)

Likely Pathogenic

View →

FANCD2 NM_033084.4:c.206-1G>A

NP_149075.2:p.?

Likely Pathogenic

View →

ESR1 NM_001122740.1:c.1610A>G

NP_001116212.1:p.(Y537C)

VUS

View →

BRAF NM_004333.5:c.1661T>C

NP_004324.2:p.(I554T)

VUS

View →

FBXW7 NM_033632.3:c.1697G>T

NP_361014.1:p.(W566L)

VUS

View →

PIK3CA NM_006218.4:c.2042G>C

NP_006209.2:p.(S681T)

VUS

View →

PSEN1 NM_000021.3:c.1234G>A

NP_000012.1:p.(V412I)

VUS

View →

SF3B1 NM_012433.3:c.2263C>T

NP_036565.2:p.(P755S)

VUS

View →

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

NP_000305.3:p.?

Pathogenic

View →

PIK3R1 NM_181523.2:c.1011T>G

NP_852664.1:p.(D337E)

VUS

View →

DDR2 NM_006182.3:c.1723G>C

NP_006173.2:p.(G575R)

VUS

View →

POLD1 NM_001308632.1:c.319C>T

NP_001295561.1:p.(P107S)

VUS

View →

ATM NM_000051.4:c.2689T>A

NP_000042.3:p.(F897I)

Likely Benign

View →

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

NP_001119580.2:p.?

Likely Pathogenic

View →

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

NP_001119580.2:p.?

VUS

View →

PKD1 NM_001009944.3:c.9850T>C

NP_001009944.3:p.(C3284R)

VUS

View →

RB1 NM_000321.2:c.2546_2547del

NP_000312.2:p.(N849Tfs*5)

Likely Pathogenic

View →

MSH6 NM_000179.2:c.440T>G

NP_000170.1:p.(L147R)

VUS

View →

ERBB3 NM_001982.3:c.244G>A

NP_001973.2:p.(E82K)

VUS

View →

EZHIP NM_203407.3:c.860_892del

NP_981952.1:p.(G287_P297del)

VUS

View →

EZHIP NM_203407.3:c.162C>T

NP_981952.1:p.(P54=)

VUS

View →

TP53 NM_000546.5:c.520A>T

NP_000537.3:p.(R174W)

VUS

View →

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

NP_001978.1:p.?

Likely Benign

View →

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

NP_000258.1:p.?

Benign

View →

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

NP_001015877.1:p.?

Likely Benign

View →

PRPF8 NM_006445.3:c.471T>C

NP_006436.3:p.(D157=)

Likely Benign

View →

TET2 NM_001127208.2:c.5651C>A

NP_001120680.1:p.(T1884N)

VUS

View →

IDH2 NM_002168.3:c.515G>T

NP_002159.2:p.(R172M)

Likely Pathogenic

View →

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

NP_000537.3:p.?

In progress — classification not generated yet.

View →

BRCA2 NM_000059.4:c.3417G>A

NP_000050.3:p.(K1139=)

Likely Benign

View →

TSC2 NM_000548.5:c.3117G>A

NP_000539.2:p.(T1039=)

Likely Benign

View →

BRIP1 NM_032043.3:c.2085G>A

NP_114432.2:p.(L695=)

Likely Benign

View →

MLH1 NM_000249.4:c.1637A>G

NP_000240.1:p.(K546R)

VUS

View →

FGFR4 NM_213647.2:c.25G>A

NP_998812.1:p.(G9R)

VUS

View →

NOTCH3 NM_000435.2:c.3257A>C

NP_000426.2:p.(D1086A)

VUS

View →

MDM2 NM_002392.5:c.500G>A

NP_002383.2:p.(R167K)

VUS

View →

BRAF NM_004333.5:c.1330C>T

NP_004324.2:p.(R444W)

VUS

View →

KEAP1 NM_012289.4:c.445G>A

NP_036421.2:p.(E149K)

VUS

View →

FGFR1 NM_001174067.1:c.475G>A

NP_001167538.1:p.(E159K)

VUS

View →

APC NM_001127511.3:c.793C>T

NP_001120983.2:p.(R265*)

Likely Pathogenic

View →

FANCL NM_018062.3:c.238C>G

NP_060532.2:p.(L80V)

VUS

View →

BRCA2 NM_000059.3:c.3881T>G

NP_000050.2:p.(L1294*)

Pathogenic

View →

KMT2A NM_005933.3:c.8878G>T

NP_005924.2:p.(V2960L)

VUS

View →

TET2 NM_001127208.2:c.4139A>C

NP_001120680.1:p.(H1380P)

Likely Benign

View →

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

NP_005466.1:p.?

VUS

View →

GATA2 NM_001145661.1:c.953C>T

NP_001139133.1:p.(A318V)

VUS

View →

TP53 NM_000546.5:c.684C>G

NP_000537.3:p.(D228E)

Likely Benign

View →

RAD51B NM_133509.4:c.226G>A

NP_598193.2:p.(A76T)

Likely Benign

View →

RICTOR NM_152756.4:c.3667G>T

NP_689969.2:p.(D1223Y)

VUS

View →

MSH2 NM_000251.3:c.1619G>C

NP_000242.1:p.(S540T)

VUS

View →

PALB2 NM_024675.4:c.1209G>A

NP_078951.2:p.(L403=)

Likely Benign

View →

PALB2 NM_024675.4:c.1652A>G

NP_078951.2:p.(Y551C)

VUS

View →

MSH6 NM_000179.3:c.643G>C

NP_000170.1:p.(V215L)

VUS

View →

PIK3R1 NM_181523.2:c.310A>G

NP_852664.1:p.(T104A)

VUS

View →

PTCH1 NM_000264.5:c.4251C>T

NP_000255.2:p.(H1417=)

Likely Benign

View →

LRRK2 NM_198578.3:c.2300G>A

NP_940980.3:p.(R767H)

Likely Benign

View →

LRRK2 NM_198578.3:c.4229C>T

NP_940980.3:p.(T1410M)

Benign

View →

PTEN NM_000314.6:c.33_54del

NP_000305.3:p.(N12Mfs*5)

Likely Pathogenic

View →

FANCD2 NM_033084.4:c.70A>G

NP_149075.2:p.(R24G)

VUS

View →

PALB2 NM_024675.4:c.205C>T

NP_078951.2:p.(H69Y)

VUS

View →

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

NP_005179.2:p.?

Pathogenic

View →

BARD1 NM_000465.4:c.928T>G

NP_000456.2:p.(S310A)

VUS

View →

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

NP_001122321.1:p.?

Likely Pathogenic

View →

RAD51B NM_133509.4:c.476G>A

NP_598193.2:p.(R159H)

Likely Benign

View →

AKT1 NM_001014431.1:c.235_238delinsAAGG

NP_001014431.1:p.(Q79_W80delinsKG)

VUS

View →

SF3B1 NM_012433.3:c.1873C>A

NP_036565.2:p.(R625S)

VUS

View →

CFTR NM_000492.4:c.2723C>G

NP_000483.3:p.(T908S)

VUS

View →

MDM2 NM_002392.5:c.1036G>A

NP_002383.2:p.(E346K)

VUS

View →

PTEN NM_000314.8:c.368A>G

NP_000305.3:p.(H123R)

Likely Pathogenic

View →

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

NP_006222.2:p.?

VUS

View →

AR NM_000044.4:c.455C>T

NP_000035.2:p.(P152L)

VUS

View →

SLX4 NM_032444.3:c.903G>C

NP_115820.2:p.(K301N)

Likely Benign

View →

CEBPA NM_004364.3:c.47_48delinsA

NP_004355.2:p.(S16Kfs*144)

VUS

View →

CEBPA NM_004364.3:c.926_928dup

NP_004355.2:p.(E309_T310insK)

Likely Pathogenic

View →

STK11 NM_000455.4:c.539_571delinsTGGTAGGGTGGCACCTC

NP_000446.1:p.(G180Vfs*102)

VUS

View →

KRAS NM_033360.3:c.179G>T

NP_203524.1:p.(G60V)

Likely Pathogenic

View →

EZHIP NM_203407.3:c.1504G>A

NP_981952.1:p.(E502K)

VUS

View →

CCND2 NM_001759.3:c.389C>A

NP_001750.1:p.(S130Y)

VUS

View →

FANCL NM_018062.3:c.233C>G

NP_060532.2:p.(P78R)

VUS

View →

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

NP_000258.1:p.?

Likely Benign

View →

FANCL NM_018062.3:c.524C>T

NP_060532.2:p.(A175V)

VUS

View →

CHEK1 NM_001274.5:c.157A>G

NP_001265.2:p.(K53E)

VUS

View →

CDH1 NM_004360.5:c.2053G>A

NP_004351.1:p.(V685M)

Likely Benign

View →