Project HERA
Variant repository
Every variant interpreted by the HERA pipeline, with the criteria and the sources behind each call. Free to read — no account needed.
Browse by gene
Ordered by number of pathogenic calls, then by volume.
PTEN
BRCA2
TP53
ATM
BRCA1
PALB2
MLH1
TET2
NRAS
PTPN11
MSH2
BRAF
KRAS
RUNX1
EGFR
POLE
MSH6
SMARCA4
NF1
STK11
RB1
RET
FH
FLT3
FBXW7
GNAQ
BARD1
APC
CTNNB1
CDKN2A
TSC1
PPM1D
IDH2
NF2
HRAS
ATRX
SMAD4
GNA11
SETD2
ARID1A
IDH1
PIK3CA
POLD1
DICER1
SF3B1
DNMT3A
PIK3R1
ESR1
NOTCH3
FGFR1
ZRSR2
KIT
ERBB2
BCOR
EZH2
CBL
GBA1
SMARCB1
FGFR3
GNAS
PMS2
CHEK2
TSC2
MBD4
PTCH1
NTRK1
RAD51C
ROS1
MLH3
MET
CDK4
RAD51D
CDK12
VHL
CREBBP
FGFR2
EIF1AX
CUX1
MSH3
ATR
FANCD2
BAP1
AR
DDX41
ASXL1
NOTCH2
GALNT12
NOTCH1
RNF43
NTRK2
ETV6
CYP21A2
PDGFRA
MDM2
RAD50
FOXL2
STAG2
FGF3
LRRK2
MPL
FLCN
ABL1
RECQL4
AKT1
PPP2R1A
U2AF1
SMO
CEBPA
NBN
PRKN
FBXO31
FBP1
MAX
MYD88
JAK2
SLC12A3
TERT
PRPF8
BRIP1
RAD51B
AXIN2
EZHIP
MYC
KMT2A
CDH1
BCORL1
KEAP1
MUTYH
CHEK1
FANCL
CDK6
MYCN
PHF6
SETBP1
SDHB
CCND1
FGFR4
SH2B3
GATA2
KLLN
CTNNA1
EPCAM
SDHA
LZTR1
MEN1
BMPR1A
ALK
MYCL
ERBB3
DDR2
NTRK3
SLX4
PPARG
KDR
MAP2K1
HTRA1
B3GALT6
MITF
NFE2L2
H3C2
CDKN2B
SLC2A2
CCNE1
PRKD1
CDC73
MRE11
FANCA
FANCI
RAD54L
MYH7
NTHL1
TARDBP
ANKRD26
WT1
RAF1
MAP2K2
LPL
CREB3L3
AIP
VPS13C
SPG11
SRSF2
HOXB13
POLG
COL4A1
CDK2
ERBB4
STAT3
MDM4
MAPK1
POT1
HNF1A
CCND2
CFTR
RICTOR
PKD1
PSEN1
JAK3
JAK1
GLA
PIK3CB
KMT2B
RAD51
PDCD10
MAP2K4
CACNA1C
DMP1
RPS20
H3-3A
DNAH11
ERCC2
MTOR
EGFL7
MDC1
SOX17
MYOC
TAF1
SDHD
CALR
RAD21
COL4A2
GJB2
Recently interpreted
Newest first across every gene. Pick a gene above to narrow the list.
Variant
Protein change
Classification
TERT
NM_198253.2:c.2031C>T
NP_937983.2:p.(G677=)
Benign
View →
TERT
NM_198253.2:c.2097C>T
NP_937983.2:p.(A699=)
Benign
View →
PRPF8
NM_006445.3:c.2409G>A
NP_006436.3:p.(A803=)
Benign
View →
—
VUS
View →
FLT3
NM_004119.2:c.1835_1836insGGCTTGGGAGTTTCCAAGAGAAAATTTAGAGTT
NP_004110.2:p.(E611_F612insLAWEFPRENLE)
Likely Pathogenic
View →
KMT2A
NM_005933.3:c.8956G>A
NP_005924.2:p.(E2986K)
VUS
View →
CBL
NM_005188.3:c.1147A>G
NP_005179.2:p.(I383V)
VUS
View →
DICER1
NM_177438.3:c.4680G>A
NP_803187.1:p.(A1560=)
Benign
View →
DICER1
NM_177438.3:c.3033G>A
NP_803187.1:p.(A1011=)
Benign
View →
PMS2
NM_000535.7:c.1239del
NP_000526.2:p.(D414Tfs*34)
VUS
View →
TP53
NM_000546.6:c.267del
NP_000537.3:p.(S90Pfs*33)
Likely Pathogenic
View →
CTNNB1
NM_001904.4:c.1149G>T
NP_001895.1:p.(W383C)
VUS
View →
POLE
NM_006231.4:c.2137G>A
NP_006222.2:p.(E713K)
VUS
View →
BRCA1
NM_007294.4:c.67G>A
NP_009225.1:p.(E23K)
Likely Benign
View →
BRCA2
NM_000059.4:c.4757C>T
NP_000050.3:p.(T1586I)
VUS
View →
TP53
NM_000546.6:c.832_839dup
NP_000537.3:p.(R280Sfs*68)
Likely Pathogenic
View →
PTEN
NM_000314.8:c.367C>G
NP_000305.3:p.(H123D)
Likely Pathogenic
View →
PTEN
NM_000314.8:c.322C>G
NP_000305.3:p.(L108V)
VUS
View →
ATM
NM_000051.4:c.6801C>T
NP_000042.3:p.(N2267=)
VUS
View →
MSH6
NM_000179.3:c.3261del
NP_000170.1:p.(F1088Sfs*2)
Pathogenic
View →
RECQL4
NM_004260.4:c.2296del
NP_004251.4:p.(R766Gfs*77)
Likely Pathogenic
View →
BRAF
NM_001354609.1:c.739T>G
NP_001341538.1:p.(F247V)
Likely Pathogenic
View →
TSC2
NM_000548.5:c.3884-17C>G
NP_000539.2:p.?
Likely Benign
View →
ATM
NM_000051.4:c.6733G>A
NP_000042.3:p.(E2245K)
VUS
View →
PTCH1
NM_000264.5:c.-9_-4del
NP_000255.2:p.?
Benign
View →
BRCA1
NM_007294.4:c.80+5G>C
NP_009225.1:p.?
VUS
View →
BRAF
NM_001354609.1:c.1406G>A
NP_001341538.1:p.(G469E)
VUS
View →
PMS2
NM_000535.7:c.241G>A
NP_000526.2:p.(E81K)
VUS
View →
TP53
NM_000546.5:c.1066G>C
NP_000537.3:p.(G356R)
Likely Benign
View →
MSH6
NM_000179.3:c.-2G>T
NP_000170.1:p.?
VUS
View →
MSH6
NM_000179.3:c.3483T>C
NP_000170.1:p.(P1161=)
Likely Benign
View →
BRCA2
NM_000059.4:c.7992T>A
NP_000050.3:p.(I2664=)
Likely Benign
View →
ATM
NM_000051.4:c.419A>T
NP_000042.3:p.(D140V)
VUS
View →
PALB2
NM_024675.4:c.1578T>C
NP_078951.2:p.(H526=)
Likely Benign
View →
PALB2
NM_024675.4:c.1960A>G
NP_078951.2:p.(I654V)
VUS
View →
ATM
NM_000051.4:c.6200C>A
NP_000042.3:p.(A2067D)
Likely Pathogenic
View →
CDH1
NM_004360.5:c.1239C>T
NP_004351.1:p.(Y413=)
Likely Benign
View →
CDH1
NM_004360.5:c.1138-3C>T
NP_004351.1:p.?
Likely Benign
View →
TP53
NM_000546.6:c.845G>A
NP_000537.3:p.(R282Q)
VUS
View →
PALB2
NM_024675.4:c.194C>T
NP_078951.2:p.(P65L)
VUS
View →
MLH1
NM_000249.4:c.688G>C
NP_000240.1:p.(E230Q)
VUS
View →
KLLN
NM_001126049.2:c.-694T>G
NP_001119521.1:p.?
VUS
View →
TP53
NM_000546.6:c.469G>T
NP_000537.3:p.(V157F)
VUS
View →
PALB2
NM_024675.4:c.841A>G
NP_078951.2:p.(I281V)
VUS
View →
BRCA2
NM_000059.4:c.1924_1925insGG
NP_000050.3:p.(S642Wfs*3)
Pathogenic
View →
MSH6
NM_000179.3:c.866G>A
NP_000170.1:p.(G289D)
Likely Benign
View →
MSH2
NM_000251.3:c.2034T>A
NP_000242.1:p.(Y678*)
VUS
View →
PTEN
NM_000314.8:c.449_456del
NP_000305.3:p.(E150Gfs*27)
Likely Pathogenic
View →
TP53
NM_000546.5:c.319T>C
NP_000537.3:p.(Y107H)
Benign
View →
ATM
NM_000051.3:c.5681_5682del
NP_000042.3:p.(E1894Afs*9)
Pathogenic
View →
BRCA2
NM_000059.3:c.7961T>C
NP_000050.2:p.(L2654P)
VUS
View →
ATM
NM_000051.3:c.1158del
NP_000042.3:p.(K387Rfs*3)
Pathogenic
View →
PTPN11
NM_001330437.1:c.1052G>A
NP_001317366.1:p.(R351Q)
Benign
View →
ATM
NM_000051.3:c.3118A>G
NP_000042.3:p.(M1040V)
Benign
View →
BRCA2
NM_000059.3:c.8023A>G
NP_000050.2:p.(I2675V)
Pathogenic
View →
PALB2
NM_024675.3:c.871G>A
NP_078951.2:p.(A291T)
VUS
View →
RUNX1
NM_001001890.2:c.590G>A
NP_001001890.1:p.(R197Q)
VUS
View →
ATM
NM_000051.3:c.4158dup
NP_000042.3:p.(K1387*)
Pathogenic
View →
PALB2
NM_024675.3:c.3549C>A
NP_078951.2:p.(Y1183*)
—
View →
PALB2
NM_024675.3:c.3089C>T
NP_078951.2:p.(T1030I)
VUS
View →
BRAF
NM_001354609.1:c.739T>C
NP_001341538.1:p.(F247L)
VUS
View →
TP53
NM_000546.6:c.925C>T
NP_000537.3:p.(P309S)
—
View →
PALB2
NM_024675.4:c.3132A>T
NP_078951.2:p.(Q1044H)
VUS
View →
BRCA2
NM_000059.3:c.68-7del
NP_000050.2:p.?
Benign
View →
BRCA1
NM_007294.3:c.68_69del
NP_009225.1:p.(E23Vfs*17)
Pathogenic
View →
ATM
NM_000051.3:c.2413C>T
NP_000042.3:p.(R805*)
Pathogenic
View →
BRCA1
NM_007294.3:c.615_622dup
NP_009225.1:p.(T208Nfs*29)
VUS
View →
ATM
NM_000051.3:c.8161G>A
NP_000042.3:p.(D2721N)
VUS
View →
BRAF
NM_001354609.1:c.1799T>G
NP_001341538.1:p.(V600G)
Likely Pathogenic
View →
BRCA1
NM_007294.3:c.32T>G
NP_009225.1:p.(V11G)
Likely Pathogenic
View →
KRAS
NM_004985.4:c.178G>C
NP_004976.2:p.(G60R)
Likely Pathogenic
View →
BRCA1
NM_007294.3:c.5200T>A
NP_009225.1:p.(F1734I)
VUS
View →
BRCA2
NM_000059.3:c.8242G>A
NP_000050.2:p.(G2748S)
VUS
View →
RUNX1
NM_001001890.2:c.569G>A
NP_001001890.1:p.(G190E)
VUS
View →
PALB2
NM_024675.3:c.338C>T
NP_078951.2:p.(P113L)
VUS
View →
PTPN11
NM_001330437.1:c.188A>G
NP_001317366.1:p.(Y63C)
VUS
View →
KRAS
NM_001369787.1:c.531_533del
NP_001356716.1:p.(K180del)
Benign
View →
BRCA2
NM_000059.3:c.8009C>G
NP_000050.2:p.(S2670W)
VUS
View →
BRCA2
NM_000059.3:c.8149G>T
NP_000050.2:p.(A2717S)
Benign
View →
TP53
NM_000546.5:c.490A>G
NP_000537.3:p.(K164E)
Likely Pathogenic
View →
KRAS
NM_001369787.1:c.508A>T
NP_001356716.1:p.(M170L)
VUS
View →
BRCA2
NM_000059.3:c.5946del
NP_000050.2:p.(S1982Rfs*22)
Pathogenic
View →
RUNX1
NM_001001890.2:c.342_346del
NP_001001890.1:p.(L117Kfs*14)
Pathogenic
View →
SF3B1
NM_012433.4:c.1986C>A
NP_036565.2:p.(H662Q)
VUS
View →
—
VUS
View →
BRAF
NM_001354609.1:c.1929A>G
NP_001341538.1:p.(G643=)
Benign
View →
ETV6
NM_001987.4:c.133dup
NP_001978.1:p.(E45Gfs*21)
Likely Pathogenic
View →
KMT2A
NM_005933.3:c.5518C>T
NP_005924.2:p.(P1840S)
VUS
View →
CHEK2
NM_007194.3:c.715G>A
NP_009125.1:p.(E239K)
VUS
View →
TET2
NM_001127208.2:c.5456T>G
NP_001120680.1:p.(L1819*)
VUS
View →
ATM
NM_000051.4:c.2930G>A
NP_000042.3:p.(C977Y)
VUS
View →
BRCA2
NM_000059.4:c.7976+24G>A
NP_000050.3:p.?
Likely Benign
View →
PTEN
NM_000314.8:c.-361C>T
NP_000305.3:p.?
VUS
View →
MEN1
NM_000244.3:c.1311G>A
NP_000235.2:p.(L437=)
Likely Benign
View →
KIT
NM_000222.2:c.148G>T
NP_000213.1:p.(V50L)
VUS
View →
ZRSR2
NM_005089.3:c.617T>C
NP_005080.1:p.(F206S)
VUS
View →
FH
NM_000143.4:c.143del
NP_000134.2:p.(N48Ifs*5)
Likely Pathogenic
View →
FH
NM_000143.4:c.1366G>T
NP_000134.2:p.(V456L)
VUS
View →
ASXL1
NM_015338.5:c.2281G>A
NP_056153.2:p.(A761T)
VUS
View →
NF1
NM_000267.3:c.702_704delinsATT
NP_000258.1:p.(Y235F)
VUS
View →