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
TP53
BRCA2
ATM
BRCA1
PALB2
EGFR
MLH1
KRAS
POLE
BRAF
TET2
PTPN11
NRAS
IDH1
MSH6
MSH2
RUNX1
KIT
FGFR3
NF1
CTNNB1
DNMT3A
RET
IDH2
SMARCA4
FLT3
FBXW7
CFTR
GNAQ
APC
BARD1
STK11
CDKN2A
RB1
ESR1
HRAS
FH
SMAD4
GNA11
GNAS
PIK3CA
SF3B1
ERBB2
TSC1
PPM1D
FGFR2
NF2
CBL
ALK
ATRX
EZH2
GBA1
SETD2
ARID1A
TTR
POLD1
CHEK2
DICER1
MUTYH
RAD51C
RAD51D
PIK3R1
VHL
NOTCH3
FGFR1
ZRSR2
ASXL1
BCOR
MPL
MAP2K1
SMARCB1
U2AF1
AKT1
NBN
JAK2
HEXA
PKP2
PMS2
TSC2
MBD4
PTCH1
MSH3
NTRK1
MLH3
MET
ROS1
SDHB
CDK4
BAP1
CDK12
CREBBP
EIF1AX
PHF6
CUX1
GALNT12
NOTCH1
ATR
FANCD2
AR
DDX41
NOTCH2
RNF43
NTRK2
ETV6
CYP21A2
PDGFRA
MDM2
ERBB3
RAD50
FOXL2
STAG2
FGF3
NTHL1
ABL1
LRRK2
MYH7
HBB
LDLR
FLCN
RECQL4
STAT3
MYD88
PPP2R1A
SMO
CEBPA
PRKN
MYBPC3
RYR1
KCNQ1
RAC1
FBXO31
FBP1
MAX
SLC12A3
DPYD
MEFV
NOD2
CSF3R
ATP7B
BTD
CXCR4
ACADM
MED12
ACVR1
PRNP
PRSS1
ASPA
ELP1
LMNA
BLM
DHCR7
TERT
PRPF8
BRIP1
AXIN2
RAD51B
EZHIP
MYC
KMT2A
CDH1
BCORL1
KEAP1
CHEK1
FANCL
CDK6
MYCN
SETBP1
KLLN
CTNNA1
BMPR1A
CCND1
FGFR4
SH2B3
GATA2
MEN1
GJB2
EPCAM
SDHA
LZTR1
MYCL
DDR2
NTRK3
SLX4
PPARG
KDR
CALR
HFE
SRSF2
HOXB13
HTRA1
B3GALT6
MITF
NFE2L2
H3C2
CDKN2B
SLC2A2
HNF1A
CCNE1
PRKD1
GLA
CDC73
MRE11
FANCA
H3-3A
FANCI
RAD54L
SDHD
TARDBP
SERPINA1
MTHFR
G6PD
APOL1
ANKRD26
WT1
RAF1
MAP2K2
LPL
CREB3L3
AIP
VPS13C
SPG11
POLG
COL4A1
CDK2
ERBB4
MDM4
MAPK1
POT1
CCND2
RICTOR
PKD1
PSEN1
JAK3
JAK1
PIK3CB
KMT2B
RAD51
PDCD10
MAP2K4
CACNA1C
DMP1
RPS20
DNAH11
ERCC2
MTOR
EGFL7
MDC1
SOX17
MYOC
TAF1
RAD21
COL4A2
DLST
PTPN4
NPM1
F5
APOB
APOE
CYP2C19
SLCO1B1
CYP2C9
PAH
TPMT
FANCC
GALT
CYP3A5
SLC26A4
SPINK1
KCNJ11
Recently interpreted
Newest first across every gene. Pick a gene above to narrow the list.
Variant
Protein change
Classification
MSH2
NM_000251.3:c.23C>G
NP_000242.1:p.(T8R)
VUS
View →
MBD4
NM_001276270.2:c.335+1G>A
NP_001263199.1:p.?
VUS
View →
MSH6
NM_000179.3:c.242C>T
NP_000170.1:p.(A81V)
VUS
View →
APC
NM_001127510.3:c.4072G>A
NP_001120982.1:p.(A1358T)
Likely Benign
View →
ATM
NM_000051.4:c.8292_8293del
NP_000042.3:p.(S2764Rfs*4)
Pathogenic
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DICER1
NM_177438.3:c.1510-4dup
NP_803187.1:p.?
Benign
View →
TSC2
NM_000548.5:c.3834G>A
NP_000539.2:p.(L1278=)
VUS
View →
ATRX
NM_000489.5:c.4231G>T
NP_000480.3:p.(E1411*)
Likely Pathogenic
View →
CREBBP
NM_004380.2:c.6436C>T
NP_004371.2:p.(Q2146*)
VUS
View →
PIK3CA
NM_006218.4:c.1634A>T
NP_006209.2:p.(E545V)
VUS
View →
PTEN
NM_000314.8:c.383A>C
NP_000305.3:p.(K128T)
Likely Pathogenic
View →
BMPR1A
NM_004329.3:c.117C>T
NP_004320.2:p.(S39=)
VUS
View →
AXIN2
NM_004655.4:c.1168A>G
NP_004646.3:p.(S390G)
Likely Benign
View →
BRCA2
NM_000059.4:c.7141_7147dup
NP_000050.3:p.(Y2383Sfs*11)
Pathogenic
View →
ATM
NM_000051.4:c.2552A>G
NP_000042.3:p.(D851G)
Likely Benign
View →
BRCA2
—
Pathogenic
View →
ATM
NM_000051.3:c.7031G>A
NP_000042.3:p.(W2344*)
Pathogenic
View →
BRCA2
NM_000059.4:c.8275del
NP_000050.3:p.(V2759Wfs*18)
Pathogenic
View →
BRCA2
NM_000059.4:c.8275del
NP_000050.3:p.(V2759Wfs*18)
Pathogenic
View →
TP53
NM_000546.5:c.1031T>G
NP_000537.3:p.(L344R)
Likely Pathogenic
View →
TP53
NM_000546.5:c.1031T>G
NP_000537.3:p.(L344R)
Likely Pathogenic
View →
ARID1A
NM_006015.5:c.782C>A
NP_006006.3:p.(S261*)
Likely Pathogenic
View →
MET
NM_001127500.2:c.3073_3082+25del
NP_001120972.1:p.?
VUS
View →
RB1
NM_000321.2:c.2439dup
NP_000312.2:p.(K814*)
Likely Pathogenic
View →
SMARCA4
NM_001128849.1:c.3067G>T
NP_001122321.1:p.(E1023*)
Likely Pathogenic
View →
STK11
NM_000455.4:c.658C>T
NP_000446.1:p.(Q220*)
Pathogenic
View →
EGFR
NM_005228.4:c.2155G>A
NP_005219.2:p.(G719S)
Likely Pathogenic
View →
BRCA1
NM_007294.4:c.2597G>A
NP_009225.1:p.(R866H)
Benign
View →
ATM
NM_000051.4:c.2638+11A>G
NP_000042.3:p.?
Likely Benign
View →
BRCA1
NM_007294.4:c.2501G>A
NP_009225.1:p.(G834E)
Likely Benign
View →
BRCA1
NM_007294.4:c.2597G>A
NP_009225.1:p.(R866H)
Benign
View →
BRCA1
NM_007294.4:c.2597G>A
NP_009225.1:p.(R866H)
Benign
View →
BRCA1
NM_007294.4:c.2597G>A
NP_009225.1:p.(R866H)
VUS
View →
CDKN2A
NM_000077.5:c.170C>G
NP_000068.1:p.(A57G)
VUS
View →
KLLN
NM_001126049.2:c.-535_-534insC
NP_001119521.1:p.?
VUS
View →
PIK3CA
NM_006218.4:c.3189dup
NP_006209.2:p.(Q1064Tfs*9)
VUS
View →
BRCA2
NM_000059.4:c.8275del
NP_000050.3:p.(V2759Wfs*18)
Pathogenic
View →
BRCA2
NM_000059.4:c.8275del
NP_000050.3:p.(V2759Wfs*18)
VUS
View →
BRCA2
NM_000059.4:c.8275del
NP_000050.3:p.(V2759Wfs*18)
VUS
View →
PTEN
NM_000314.8:c.383A>C
NP_000305.3:p.(K128T)
Likely Pathogenic
View →
ATM
NM_000051.4:c.1039G>T
NP_000042.3:p.(E347*)
Pathogenic
View →
ATM
NM_000051.4:c.2552A>G
NP_000042.3:p.(D851G)
VUS
View →
—
VUS
View →
—
VUS
View →
SETD2
NM_014159.6:c.6631G>T
NP_054878.5:p.(G2211*)
Likely Pathogenic
View →
EGFR
NM_005228.4:c.2573T>G
NP_005219.2:p.(L858R)
Likely Pathogenic
View →
RB1
NM_000321.2:c.275_282del
NP_000312.2:p.(I92Kfs*15)
VUS
View →
PTCH1
NM_000264.4:c.2588G>A
NP_000255.2:p.(W863*)
Likely Pathogenic
View →
ARID1A
NM_006015.5:c.673C>T
NP_006006.3:p.(P225S)
VUS
View →
ATM
NM_000051.4:c.2638+11A>G
NP_000042.3:p.?
VUS
View →
BRCA1
NM_007294.4:c.2501G>A
NP_009225.1:p.(G834E)
VUS
View →
POLE
NM_006231.4:c.2413C>T
NP_006222.2:p.(Q805*)
Likely Pathogenic
View →
PALB2
NM_024675.4:c.886del
NP_078951.2:p.(M296*)
Pathogenic
View →
PTEN
NM_000314.8:c.763_773del
NP_000305.3:p.(V255Pfs*39)
Likely Pathogenic
View →
TP53
NM_000546.5:c.672+6G>A
NP_000537.3:p.?
VUS
View →
CDKN2A
NM_000077.5:c.253G>T
NP_000068.1:p.(A85S)
VUS
View →
RNF43
NM_017763.6:c.662G>A
NP_060233.3:p.(R221Q)
VUS
View →
PTEN
NM_000314.8:c.763_773del
NP_000305.3:p.(V255Pfs*39)
Likely Pathogenic
View →
BRCA2
NM_000059.4:c.10111A>G
NP_000050.3:p.(T3371A)
VUS
View →
POLE
NM_006231.4:c.6658-19C>G
NP_006222.2:p.?
VUS
View →
APC
NM_001127510.3:c.3374T>C
NP_001120982.1:p.(V1125A)
Benign
View →
BARD1
NM_000465.4:c.1285G>A
NP_000456.2:p.(E429K)
VUS
View →
APC
NM_001127510.3:c.2805C>T
NP_001120982.1:p.(Y935=)
Likely Benign
View →
BRCA1
NM_007294.4:c.1387A>T
NP_009225.1:p.(K463*)
Likely Pathogenic
View →
BRCA2
NM_000059.4:c.1813del
NP_000050.3:p.(I605Yfs*9)
Likely Pathogenic
View →
TSC2
NM_000548.5:c.2476C>A
NP_000539.2:p.(L826M)
VUS
View →
PALB2
NM_024675.4:c.829G>A
NP_078951.2:p.(D277N)
Likely Benign
View →
POLE
NM_006231.4:c.1347G>A
NP_006222.2:p.(T449=)
Likely Benign
View →
RB1
NM_000321.3:c.1390-17T>A
NP_000312.2:p.?
VUS
View →
BRCA2
NM_000059.4:c.3073A>G
NP_000050.3:p.(K1025E)
Likely Benign
View →
MEN1
NM_001370259.2:c.300C>G
NP_001357188.2:p.(A100=)
VUS
View →
BRIP1
NM_032043.3:c.3459T>C
NP_114432.2:p.(D1153=)
Likely Benign
View →
ATM
NM_000051.4:c.1440A>C
NP_000042.3:p.(L480F)
VUS
View →
DICER1
NM_177438.3:c.4206+9del
NP_803187.1:p.?
Benign
View →
ATM
NM_000051.4:c.7243G>C
NP_000042.3:p.(A2415P)
VUS
View →
TP53
NM_000546.6:c.840A>C
NP_000537.3:p.(R280S)
Likely Pathogenic
View →
BRCA1
NM_007294.4:c.3260G>C
NP_009225.1:p.(G1087A)
VUS
View →
MBD4
NM_001276270.2:c.1073T>C
NP_001263199.1:p.(I358T)
Benign
View →
BRCA2
NM_000059.4:c.7617+16C>T
NP_000050.3:p.?
Likely Benign
View →
ATM
NM_000051.4:c.7243G>C
NP_000042.3:p.(A2415P)
VUS
View →
PALB2
NM_024675.4:c.2945G>T
NP_078951.2:p.(G982V)
VUS
View →
PALB2
NM_024675.4:c.2970A>T
NP_078951.2:p.(E990D)
VUS
View →
TP53
NM_000546.6:c.919+17A>G
NP_000537.3:p.?
VUS
View →
TP53
NM_000546.6:c.919+17A>G
NP_000537.3:p.?
Likely Benign
View →
POLE
NM_006231.4:c.4744C>T
NP_006222.2:p.(P1582S)
VUS
View →
POLD1
NM_002691.4:c.927C>T
NP_002682.2:p.(P309=)
VUS
View →
ATM
NM_000051.4:c.9049C>T
NP_000042.3:p.(L3017=)
Likely Benign
View →
BRCA1
NM_007294.4:c.5266dup
NP_009225.1:p.(Q1756Pfs*74)
Pathogenic
View →
DICER1
NM_177438.3:c.4206+9del
NP_803187.1:p.?
Benign
View →
DICER1
NM_177438.3:c.4206+11_4206+13del
NP_803187.1:p.?
Likely Benign
View →
NF1
NM_001042492.3:c.2573C>G
NP_001035957.1:p.(S858C)
VUS
View →
NF1
NM_001042492.3:c.2573C>G
NP_001035957.1:p.(S858C)
Likely Benign
View →
ATM
NM_000051.4:c.5503del
NP_000042.3:p.(T1835Lfs*11)
Pathogenic
View →
ATM
NM_000051.4:c.5692C>T
NP_000042.3:p.(R1898*)
Pathogenic
View →
BRCA1
NM_007294.4:c.1387A>T
NP_009225.1:p.(K463*)
VUS
View →
TP53
NM_000546.6:c.840A>C
NP_000537.3:p.(R280S)
Likely Pathogenic
View →
BRCA2
NM_000059.4:c.6748A>G
NP_000050.3:p.(T2250A)
Benign
View →
PIK3CA
NM_006218.4:c.1214C>A
NP_006209.2:p.(S405Y)
VUS
View →
PIK3CA
NM_006218.4:c.278G>T
NP_006209.2:p.(R93L)
VUS
View →
ATM
NM_000051.4:c.6975+13dup
NP_000042.3:p.?
Likely Benign
View →