Variant repository

CBL NM_005188.4:c.1111T>C

NP_005179.2:p.(Y371H)

Pathogenic

View →

ALK NM_004304.5:c.3824G>A

NP_004295.2:p.(R1275Q)

Pathogenic

View →

FGFR2 NM_000141.5:c.755C>G

NP_000132.3:p.(S252W)

Pathogenic

View →

ABL1 NM_005157.6:c.944C>T

NP_005148.2:p.(T315I)

VUS

View →

APC NM_000038.6:c.4348C>T

NP_000029.2:p.(R1450*)

Likely Pathogenic

View →

KIT NM_000222.3:c.2466T>G

NP_000213.1:p.(N822K)

Likely Pathogenic

View →

SLC26A4 NM_000441.2:c.919-2A>G

NP_000432.1:p.?

VUS

View →

ERBB3 NM_001982.4:c.310G>A

NP_001973.2:p.(V104M)

Likely Pathogenic

View →

KCNQ1 NM_000218.3:c.1766G>A

NP_000209.2:p.(G589D)

VUS

View →

TP53 NM_000546.6:c.659A>G

NP_000537.3:p.(Y220C)

Pathogenic

View →

CYP3A5 NM_000777.5:c.219-237A>G

NP_000768.1:p.?

Benign

View →

KRAS NM_004985.5:c.183A>C

NP_004976.2:p.(Q61H)

VUS

View →

RYR1 NM_000540.3:c.7300G>A

NP_000531.2:p.(G2434R)

Likely Pathogenic

View →

MPL NM_005373.3:c.1544G>T

NP_005364.1:p.(W515L)

Pathogenic

View →

ATP7B NM_000053.4:c.3207C>A

NP_000044.2:p.(H1069Q)

Pathogenic

View →

BRAF NM_004333.6:c.1781A>G

NP_004324.2:p.(D594G)

VUS

View →

LDLR NM_000527.5:c.621C>T

NP_000518.1:p.(G207=)

Pathogenic

View →

KRAS NM_004985.5:c.436G>A

NP_004976.2:p.(A146T)

Likely Pathogenic

View →

CFTR NM_000492.4:c.3846G>A

NP_000483.3:p.(W1282*)

Pathogenic

View →

PIK3CA NM_006218.4:c.1258T>C

NP_006209.2:p.(C420R)

VUS

View →

GALT NM_000155.4:c.563A>G

NP_000146.2:p.(Q188R)

VUS

View →

CSF3R NM_000760.4:c.1853C>T

NP_000751.1:p.(T618I)

Likely Pathogenic

View →

FANCC NM_000136.3:c.456+4A>T

NP_000127.2:p.?

VUS

View →

GNAS NM_000516.7:c.601C>T

NP_000507.1:p.(R201C)

Pathogenic

View →

TPMT NM_000367.5:c.719A>G

NP_000358.1:p.(Y240C)

Benign

View →

MET NM_000245.4:c.3682G>A

NP_000236.2:p.(D1228N)

VUS

View →

HEXA NM_000520.6:c.1274_1277dup

NP_000511.2:p.(Y427Ifs*5)

Pathogenic

View →

KIT NM_000222.3:c.1961T>C

NP_000213.1:p.(V654A)

VUS

View →

PAH NM_000277.3:c.1222C>T

NP_000268.1:p.(R408W)

Likely Benign

View →

ALK NM_004304.5:c.3604G>A

NP_004295.2:p.(G1202R)

Likely Pathogenic

View →

MYH7 NM_000257.4:c.1208G>A

NP_000248.2:p.(R403Q)

Likely Pathogenic

View →

RET NM_020975.6:c.1900T>C

NP_066124.1:p.(C634R)

Pathogenic

View →

BRAF NM_004333.6:c.1801A>G

NP_004324.2:p.(K601E)

VUS

View →

PALB2 NM_024675.4:c.1592del

NP_078951.2:p.(L531Cfs*30)

Pathogenic

View →

IDH2 NM_002168.4:c.515G>A

NP_002159.2:p.(R172K)

Likely Pathogenic

View →

CFTR NM_000492.4:c.350G>A

NP_000483.3:p.(R117H)

VUS

View →

TP53 NM_000546.6:c.742C>T

NP_000537.3:p.(R248W)

Pathogenic

View →

GJB2 NM_004004.6:c.235del

NP_003995.2:p.(L79Cfs*3)

VUS

View →

CALR NM_004343.4:c.1154_1155insTTGTC

NP_004334.1:p.(K385Nfs*47)

VUS

View →

TTR NM_000371.4:c.148G>A

NP_000362.1:p.(V50M)

Likely Pathogenic

View →

FGFR3 NM_000142.5:c.1118A>G

NP_000133.1:p.(Y373C)

Pathogenic

View →

G6PD NM_001360016.2:c.202G>A

NP_001346945.1:p.(V68M)

VUS

View →

NRAS NM_002524.5:c.181C>A

NP_002515.1:p.(Q61K)

VUS

View →

CYP2C9 NM_000771.4:c.1075A>C

NP_000762.2:p.(I359L)

Benign

View →

PIK3CA NM_006218.4:c.1624G>A

NP_006209.2:p.(E542K)

VUS

View →

MTHFR NM_005957.5:c.1286A>C

NP_005948.3:p.(E429A)

Benign

View →

KRAS NM_004985.5:c.34G>C

NP_004976.2:p.(G12R)

VUS

View →

NOD2 NM_001370466.1:c.2938dup

NP_001357395.1:p.(L980Pfs*2)

Pathogenic

View →

BRAF NM_004333.6:c.1798_1799delinsAA

NP_004324.2:p.(V600K)

VUS

View →

MSH6 NM_000179.3:c.3261dup

NP_000170.1:p.(F1088Lfs*5)

VUS

View →

ERBB2 NM_004448.4:c.2313_2324dup

NP_004439.2:p.(Y772_A775dup)

Likely Pathogenic

View →

SLCO1B1 NM_006446.5:c.521T>C

NP_006437.3:p.(V174A)

Benign

View →

GNAQ NM_002072.5:c.626A>C

NP_002063.2:p.(Q209P)

Likely Pathogenic

View →

PTEN NM_000314.8:c.419T>A

NP_000305.3:p.(L140*)

Likely Pathogenic

View →

PTEN NM_000314.8:c.320A>T

NP_000305.3:p.(D107V)

VUS

View →

RYR1 NM_000540.3:c.1840C>T

NP_000531.2:p.(R614C)

VUS

View →

EGFR NM_005228.5:c.2155G>A

NP_005219.2:p.(G719S)

Likely Pathogenic

View →

BRCA1 NM_007294.4:c.181T>G

NP_009225.1:p.(C61G)

Pathogenic

View →

PTEN NM_000314.8:c.389G>A

NP_000305.3:p.(R130Q)

Pathogenic

View →

LDLR NM_000527.5:c.1775G>A

NP_000518.1:p.(G592E)

VUS

View →

SMAD4 NM_005359.6:c.1082G>A

NP_005350.1:p.(R361H)

Pathogenic

View →

MYBPC3 NM_000256.3:c.1504C>T

NP_000247.2:p.(R502W)

VUS

View →

FBXW7 NM_001349798.2:c.1393C>T

NP_001336727.1:p.(R465C)

Likely Pathogenic

View →

APOL1 NM_003661.4:c.1164_1169del

NP_003652.2:p.(N388_Y389del)

VUS

View →

U2AF1 NM_006758.3:c.101C>T

NP_006749.1:p.(S34F)

Likely Pathogenic

View →

ATM NM_000051.4:c.7271T>G

NP_000042.3:p.(V2424G)

Likely Pathogenic

View →

IDH1 NM_005896.4:c.394C>T

NP_005887.2:p.(R132C)

Likely Pathogenic

View →

FLT3 NM_004119.3:c.2503G>T

NP_004110.2:p.(D835Y)

Pathogenic

View →

HFE NM_000410.4:c.187C>G

NP_000401.1:p.(H63D)

VUS

View →

FLT3 NM_004119.3:c.2503G>T

NP_004110.2:p.(D835Y)

VUS

View →

PALB2 NM_024675.4:c.3113G>A

NP_078951.2:p.(W1038*)

VUS

View →

EGFR NM_005228.5:c.2582T>A

NP_005219.2:p.(L861Q)

Likely Pathogenic

View →

SERPINA1 NM_001127701.1:c.863A>T

NP_001121173.1:p.(E288V)

Benign

View →

BRAF NM_004333.6:c.1406G>C

NP_004324.2:p.(G469A)

Likely Pathogenic

View →

HBB NM_000518.5:c.79G>A

NP_000509.1:p.(E27K)

VUS

View →

PIK3CA NM_006218.4:c.3140A>G

NP_006209.2:p.(H1047R)

VUS

View →

CHEK2 NM_007194.4:c.470T>C

NP_009125.1:p.(I157T)

VUS

View →

KRAS NM_004985.5:c.38G>A

NP_004976.2:p.(G13D)

Likely Pathogenic

View →

MEFV NM_000243.3:c.2080A>G

NP_000234.1:p.(M694V)

Pathogenic

View →

ATM NM_000051.4:c.4850T>C

NP_000042.3:p.(L1617P)

VUS

View →

SF3B1 NM_012433.4:c.2098A>G

NP_036565.2:p.(K700E)

Likely Pathogenic

View →

MSH2 NM_000251.3:c.942+3A>T

NP_000242.1:p.?

VUS

View →

ESR1 NM_000125.4:c.1610A>C

NP_000116.2:p.(Y537S)

Likely Pathogenic

View →

PTEN NM_000314.8:c.514_515del

NP_000305.3:p.(R172Afs*7)

Likely Pathogenic

View →

BRCA2 NM_000059.4:c.1644G>A

NP_000050.3:p.(Q548=)

Likely Benign

View →

BRCA2 NM_000059.4:c.8524C>T

NP_000050.3:p.(R2842C)

VUS

View →

CFTR NM_000492.4:c.1652G>A

NP_000483.3:p.(G551D)

Pathogenic

View →

ERBB2 NM_004448.4:c.929C>T

NP_004439.2:p.(S310F)

VUS

View →

G6PD NM_001360016.2:c.563C>T

NP_001346945.1:p.(S188F)

VUS

View →

CALR NM_004343.4:c.1099_1150del

NP_004334.1:p.(L367Tfs*46)

VUS

View →

CYP2C19 NM_000769.4:c.681G>A

NP_000760.1:p.(P227=)

Benign

View →

GNAS NM_000516.7:c.602G>A

NP_000507.1:p.(R201H)

Pathogenic

View →

APC NM_000038.6:c.3920T>A

NP_000029.2:p.(I1307K)

Benign

View →

PIK3CA NM_006218.4:c.1633G>A

NP_006209.2:p.(E545K)

Likely Pathogenic

View →

MTHFR NM_005957.5:c.665C>T

NP_005948.3:p.(A222V)

Benign

View →

POLE NM_006231.4:c.857C>G

NP_006222.2:p.(P286R)

Pathogenic

View →

APOE NM_000041.4:c.388T>C

NP_000032.1:p.(C130R)

Benign

View →

FGFR3 NM_000142.5:c.746C>G

NP_000133.1:p.(S249C)

Pathogenic

View →

BARD1 NM_000465.4:c.842C>T

NP_000456.2:p.(P281L)

VUS

View →

GJB2 NM_004004.6:c.35del

NP_003995.2:p.(G12Vfs*2)

Benign

View →