Project HERA
Variant repository
Browse completed HERA interpretations, including applied criteria and available source records. No account is required to read reports.
Browse by gene
Ordered by number of pathogenic calls, then by volume.
PTEN
BRCA2
TP53
ATM
BRCA1
PALB2
MLH1
TET2
NRAS
PTPN11
MSH6
MSH2
BRAF
KRAS
RUNX1
EGFR
POLE
NF1
SMARCA4
BARD1
STK11
DNMT3A
RB1
RET
FH
FLT3
FBXW7
GNAQ
APC
CDKN2A
CTNNB1
TSC1
PPM1D
IDH2
NF2
HRAS
ATRX
SMAD4
GNA11
SETD2
ARID1A
IDH1
PIK3CA
POLD1
DICER1
MUTYH
SF3B1
RAD51C
RAD51D
PIK3R1
ESR1
NOTCH3
FGFR1
ZRSR2
KIT
CBL
ERBB2
BCOR
EZH2
GBA1
SMARCB1
FGFR3
GNAS
PMS2
CHEK2
TSC2
MBD4
PTCH1
MSH3
NTRK1
MLH3
ROS1
MET
CDK4
BAP1
CDK12
VHL
CREBBP
FGFR2
EIF1AX
PHF6
CUX1
GALNT12
ATR
FANCD2
AR
DDX41
ASXL1
NOTCH2
NOTCH1
RNF43
NTRK2
ETV6
CYP21A2
PDGFRA
MDM2
RAD50
FOXL2
STAG2
FGF3
MPL
LRRK2
NTHL1
FLCN
ABL1
RECQL4
AKT1
PPP2R1A
U2AF1
SMO
CEBPA
NBN
PRKN
FBXO31
FBP1
MAX
MYD88
JAK2
SLC12A3
TERT
PRPF8
BRIP1
AXIN2
RAD51B
EZHIP
MYC
KMT2A
CDH1
BCORL1
KEAP1
CHEK1
FANCL
CDK6
MYCN
SDHB
SETBP1
KLLN
CTNNA1
CCND1
FGFR4
SH2B3
GATA2
MEN1
EPCAM
SDHA
LZTR1
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
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
DLST
Recently interpreted
Newest first across every gene. Pick a gene above to narrow the list.
Variant
Protein change
Classification
PMS2
NM_000535.7:c.903+4T>A
NP_000526.2:p.?
VUS
View →
RUNX1
NM_001754.4:c.177C>T
NP_001745.2:p.(G59=)
Likely Benign
View →
—
VUS
View →
PTEN
NM_000314.8:c.-326_-324delinsCCC
NP_000305.3:p.?
VUS
View →
ATM
NM_000051.4:c.3077+1G>A
NP_000042.3:p.?
Pathogenic
View →
PTEN
NM_000314.8:c.771C>A
NP_000305.3:p.(F257L)
VUS
View →
POLE
NM_006231.4:c.1100T>G
NP_006222.2:p.(F367C)
VUS
View →
POLE
NM_006231.4:c.6380G>A
NP_006222.2:p.(R2127Q)
VUS
View →
ATM
NM_000051.4:c.3077+1G>A
NP_000042.3:p.?
Likely Pathogenic
View →
TP53
NM_000546.6:c.760A>G
NP_000537.3:p.(I254V)
Likely Benign
View →
PMS2
NM_000535.7:c.73C>T
NP_000526.2:p.(Q25*)
VUS
View →
TP53
NM_000546.5:c.476C>T
NP_000537.3:p.(A159V)
VUS
View →
ATM
NM_000051.4:c.7630-2A>C
NP_000042.3:p.?
Likely Pathogenic
View →
ATM
NM_000051.4:c.7630-2A>C
NP_000042.3:p.?
VUS
View →
PALB2
NM_024675.4:c.2488del
NP_078951.2:p.(E830Sfs*21)
Likely Pathogenic
View →
PMS2
NM_000535.7:c.706-13T>C
NP_000526.2:p.?
VUS
View →
MLH1
NM_000249.4:c.1897-7C>T
NP_000240.1:p.?
VUS
View →
ATM
NM_000051.4:c.6897C>T
NP_000042.3:p.(F2299=)
Likely Benign
View →
MUTYH
NM_001128425.2:c.714C>T
NP_001121897.1:p.(N238=)
VUS
View →
MLH1
NM_000249.4:c.1759A>G
NP_000240.1:p.(M587V)
VUS
View →
BRCA2
NM_000059.4:c.9257G>C
NP_000050.3:p.(G3086A)
Likely Benign
View →
PALB2
NM_024675.4:c.2488del
NP_078951.2:p.(E830Sfs*21)
Likely Pathogenic
View →
PALB2
NM_024675.4:c.2488del
NP_078951.2:p.(E830Sfs*21)
VUS
View →
ATM
NM_000051.4:c.1261T>A
NP_000042.3:p.(S421T)
VUS
View →
PTEN
NM_000314.8:c.254-1G>A
NP_000305.3:p.?
Likely Pathogenic
View →
PIK3CA
NM_006218.4:c.1407_1409del
NP_006209.2:p.(E469_T470delinsD)
VUS
View →
PTEN
NM_000314.8:c.585_586del
NP_000305.3:p.(F195Lfs*6)
Likely Pathogenic
View →
BRCA2
NM_000059.4:c.8107dup
NP_000050.3:p.(T2703Nfs*3)
Pathogenic
View →
TP53
NM_000546.6:c.833C>T
NP_000537.3:p.(P278L)
Likely Pathogenic
View →
PTEN
NM_000314.8:c.254-1G>A
NP_000305.3:p.?
VUS
View →
PTEN
NM_000314.8:c.357dup
NP_000305.3:p.(A120Cfs*6)
Likely Pathogenic
View →
KLLN
NM_001126049.2:c.136T>G
NP_001119521.1:p.(F46V)
VUS
View →
PALB2
NM_024675.4:c.2135C>T
NP_078951.2:p.(A712V)
Benign
View →
MSH2
NM_000251.3:c.403C>G
NP_000242.1:p.(L135V)
VUS
View →
BARD1
NM_000465.4:c.496C>T
NP_000456.2:p.(Q166*)
Likely Pathogenic
View →
BAP1
NM_004656.4:c.1120G>A
NP_004647.1:p.(E374K)
VUS
View →
POLE
NM_006231.4:c.4477G>C
NP_006222.2:p.(A1493P)
Likely Benign
View →
—
VUS
View →
BRCA1
NM_007294.4:c.3001G>A
NP_009225.1:p.(E1001K)
VUS
View →
BRCA1
NM_007294.4:c.3245C>T
NP_009225.1:p.(A1082V)
VUS
View →
PTEN
NM_000314.8:c.922_923insT
NP_000305.3:p.(R308Lfs*4)
Likely Pathogenic
View →
BRCA1
NM_007294.4:c.4481A>G
NP_009225.1:p.(E1494G)
VUS
View →
BRCA1
NM_007294.4:c.4481A>G
NP_009225.1:p.(E1494G)
VUS
View →
BRCA1
NM_007294.4:c.4481A>G
NP_009225.1:p.(E1494G)
VUS
View →
BRCA1
NM_007294.4:c.3245C>T
NP_009225.1:p.(A1082V)
VUS
View →
PTEN
NM_000314.8:c.527A>G
NP_000305.3:p.(Y176C)
Likely Benign
View →
BRCA1
NM_007294.4:c.4481A>G
NP_009225.1:p.(E1494G)
VUS
View →
POLE
NM_006231.4:c.1924-5C>T
NP_006222.2:p.?
VUS
View →
PALB2
NM_024675.4:c.2856T>G
NP_078951.2:p.(D952E)
VUS
View →
PTEN
NM_000314.8:c.1012_1016del
NP_000305.3:p.(S338Kfs*3)
Likely Pathogenic
View →
PTEN
NM_000314.8:c.1012_1016del
NP_000305.3:p.(S338Kfs*3)
Not classified
View →
BRCA2
NM_000059.4:c.9396A>G
NP_000050.3:p.(K3132=)
Likely Benign
View →
BRCA2
NM_000059.4:c.6698C>T
NP_000050.3:p.(A2233V)
VUS
View →
PTEN
NM_000314.8:c.-638C>T
NP_000305.3:p.?
VUS
View →
PTEN
NM_000314.8:c.-491_-486dup
NP_000305.3:p.?
Benign
View →
PIK3CA
NM_006218.4:c.331_336del
NP_006209.2:p.(K111_I112del)
VUS
View →
PTEN
NM_000314.8:c.387dup
NP_000305.3:p.(R130Tfs*50)
Pathogenic
View →
DLST
NM_001933.5:c.236C>T
NP_001924.2:p.(A79V)
VUS
View →
CBL
NM_005188.3:c.1238G>A
NP_005179.2:p.(G413D)
VUS
View →
POLD1
NM_002691.4:c.49C>T
NP_002682.2:p.(R17W)
VUS
View →
STK11
NM_000455.5:c.160C>T
NP_000446.1:p.(L54=)
VUS
View →
POLE
NM_006231.4:c.4039C>T
NP_006222.2:p.(L1347=)
VUS
View →
ATM
NM_000051.4:c.858A>G
NP_000042.3:p.(Q286=)
VUS
View →
DICER1
NM_177438.3:c.734+6C>T
NP_803187.1:p.?
VUS
View →
BAP1
NM_004656.4:c.67+5G>C
NP_004647.1:p.?
VUS
View →
POLD1
NM_002691.4:c.2251-23A>G
NP_002682.2:p.?
Benign
View →
MSH3
NM_002439.5:c.1897-12T>A
NP_002430.3:p.?
VUS
View →
MBD4
NM_001276270.2:c.1074C>T
NP_001263199.1:p.(I358=)
VUS
View →
MUTYH
NM_001128425.2:c.1187G>A
NP_001121897.1:p.(G396D)
Likely Pathogenic
View →
CTNNA1
NM_001903.5:c.1193A>G
NP_001894.2:p.(N398S)
VUS
View →
MSH6
NM_000179.3:c.187T>C
NP_000170.1:p.(S63P)
Likely Benign
View →
MSH3
NM_002439.5:c.2006G>A
NP_002430.3:p.(R669Q)
VUS
View →
MSH3
NM_002439.5:c.131C>G
NP_002430.3:p.(A44G)
VUS
View →
RET
NM_020975.6:c.2944C>T
NP_066124.1:p.(R982C)
Likely Benign
View →
MEN1
NM_000244.3:c.35C>G
NP_000235.2:p.(P12R)
VUS
View →
BRIP1
NM_032043.3:c.1655T>C
NP_114432.2:p.(I552T)
VUS
View →
POLE
NM_006231.4:c.2113C>T
NP_006222.2:p.(R705W)
VUS
View →
BRCA1
NM_007294.4:c.4331del
NP_009225.1:p.(N1444Ifs*12)
Pathogenic
View →
POLE
NM_006231.4:c.4307G>A
NP_006222.2:p.(R1436Q)
VUS
View →
APC
NM_001127510.3:c.7594C>T
NP_001120982.1:p.(H2532Y)
Likely Benign
View →
STK11
NM_000455.5:c.911G>A
NP_000446.1:p.(R304Q)
VUS
View →
POLD1
NM_002691.4:c.961G>A
NP_002682.2:p.(G321S)
VUS
View →
MSH3
NM_002439.5:c.495A>G
NP_002430.3:p.(K165=)
VUS
View →
CHEK2
NM_007194.4:c.1561C>T
NP_009125.1:p.(R521W)
Likely Benign
View →
BRCA1
NM_007294.4:c.1222A>G
NP_009225.1:p.(K408E)
Benign
View →
TP53
NM_000546.6:c.-89A>G
NP_000537.3:p.?
VUS
View →
BRCA1
NM_007294.4:c.2927A>G
NP_009225.1:p.(N976S)
Likely Benign
View →
MSH6
NM_000179.3:c.1569_1572del
NP_000170.1:p.(Y524Vfs*46)
Likely Pathogenic
View →
BRCA2
NM_000059.4:c.7484T>C
NP_000050.3:p.(I2495T)
Likely Benign
View →
POLE
NM_006231.4:c.6634A>G
NP_006222.2:p.(M2212V)
VUS
View →
ATM
NM_000051.4:c.2377-18T>C
NP_000042.3:p.?
VUS
View →
TP53
NM_000546.6:c.997_1006del
NP_000537.3:p.(R333Sfs*9)
Likely Pathogenic
View →
PIK3CA
NM_006218.4:c.3G>A
NP_006209.2:p.(M1?)
VUS
View →
PTEN
NM_000314.8:c.722_723dup
NP_000305.3:p.(E242Lfs*15)
Likely Pathogenic
View →
BRCA2
NM_000059.4:c.6444T>C
NP_000050.3:p.(S2148=)
Likely Benign
View →
PTCH1
NM_000264.5:c.2173C>T
NP_000255.2:p.(P725S)
Benign
View →
PMS2
NM_000535.7:c.1567T>A
NP_000526.2:p.(S523T)
Likely Benign
View →
APC
NM_001127510.3:c.3245C>G
NP_001120982.1:p.(T1082S)
Likely Benign
View →
POLE
NM_006231.4:c.4291-30_4291-27delinsAAT
NP_006222.2:p.?
VUS
View →
NTHL1
NM_002528.7:c.244C>T
NP_002519.2:p.(Q82*)
Pathogenic
View →