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
PHF6
NM_001015877.1:c.903delinsGTTTCCT
NP_001015877.1:p.(Y301*)
Likely Pathogenic
View →
PRPF8
NM_006445.3:c.4792G>A
NP_006436.3:p.(D1598N)
VUS
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NF1
NM_001042492.2:c.7584A>G
NP_001035957.1:p.(Q2528=)
Likely Benign
View →
NF1
NM_001042492.2:c.4577+11C>G
NP_001035957.1:p.?
Likely Benign
View →
RAD51D
NM_002878.4:c.694C>T
NP_002869.3:p.(R232*)
Likely Pathogenic
View →
RAD51D
NM_002878.4:c.715C>T
NP_002869.3:p.(R239W)
Likely Benign
View →
BRCA1
NM_007294.4:c.3800T>C
NP_009225.1:p.(L1267S)
Benign
View →
POLD1
NM_002691.4:c.353C>T
NP_002682.2:p.(S118F)
VUS
View →
MUTYH
NM_001128425.2:c.309G>A
NP_001121897.1:p.(W103*)
Likely Pathogenic
View →
BRCA2
NM_000059.4:c.5857G>T
NP_000050.3:p.(E1953*)
Pathogenic
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APC
NM_001127510.3:c.4237A>G
NP_001120982.1:p.(M1413V)
Likely Benign
View →
PTEN
NM_000314.8:c.527A>G
NP_000305.3:p.(Y176C)
Likely Benign
View →
MUTYH
NM_001128425.2:c.1276C>T
NP_001121897.1:p.(R426C)
VUS
View →
STK11
NM_000455.5:c.-1C>T
NP_000446.1:p.?
VUS
View →
BRCA2
NM_000059.4:c.3270G>C
NP_000050.3:p.(M1090I)
Likely Benign
View →
BARD1
NM_000465.4:c.354T>C
NP_000456.2:p.(N118=)
VUS
View →
BRCA2
NM_000059.4:c.8432A>G
NP_000050.3:p.(D2811G)
Likely Benign
View →
MSH6
NM_000179.3:c.1474A>G
NP_000170.1:p.(M492V)
VUS
View →
MSH6
NM_000179.3:c.1019T>C
NP_000170.1:p.(F340S)
Likely Benign
View →
APC
NM_001127511.2:c.78C>A
NP_001120983.2:p.(S26R)
Benign
View →
APC
NM_001127510.3:c.4893T>C
NP_001120982.1:p.(S1631=)
Benign
View →
APC
NM_001127510.3:c.4360A>G
NP_001120982.1:p.(K1454E)
Benign
View →
CDKN2A
NM_000077.5:c.369T>A
NP_000068.1:p.(H123Q)
VUS
View →
MSH3
NM_002439.5:c.1567G>A
NP_002430.3:p.(E523K)
Likely Benign
View →
MSH3
NM_002439.5:c.1522A>G
NP_002430.3:p.(K508E)
Likely Benign
View →
MUTYH
NM_001128425.2:c.1476+2C>T
NP_001121897.1:p.?
VUS
View →
POLE
NM_006231.4:c.2173+23G>T
NP_006222.2:p.?
VUS
View →
ATM
NM_000051.4:c.5868C>T
NP_000042.3:p.(L1956=)
Likely Benign
View →
AXIN2
NM_004655.4:c.2433G>A
NP_004646.3:p.(E811=)
VUS
View →
AXIN2
NM_004655.4:c.203G>A
NP_004646.3:p.(R68Q)
VUS
View →
MUTYH
NM_001128425.2:c.505G>A
NP_001121897.1:p.(E169K)
VUS
View →
TP53
NM_000546.6:c.877G>A
NP_000537.3:p.(G293R)
Likely Benign
View →
BARD1
NM_000465.4:c.-4G>A
NP_000456.2:p.?
VUS
View →
AXIN2
NM_004655.4:c.1059+8C>T
NP_004646.3:p.?
VUS
View →
BRCA2
NM_000059.4:c.9738C>T
NP_000050.3:p.(A3246=)
Benign
View →
MBD4
NM_001276270.2:c.1375T>A
NP_001263199.1:p.(F459I)
VUS
View →
AXIN2
NM_004655.4:c.2051C>T
NP_004646.3:p.(A684V)
VUS
View →
GALNT12
NM_024642.5:c.1201C>T
NP_078918.3:p.(R401C)
VUS
View →
KRAS
NM_033360.3:c.34G>T
NP_203524.1:p.(G12C)
VUS
View →
BRCA1
NM_007294.4:c.2342A>C
NP_009225.1:p.(E781A)
Likely Benign
View →
TP53
NM_000546.6:c.527G>T
NP_000537.3:p.(C176F)
VUS
View →
ATM
NM_000051.4:c.8735_8751del
NP_000042.3:p.(R2912Nfs*7)
Pathogenic
View →
ATM
NM_000051.4:c.182T>G
NP_000042.3:p.(F61C)
VUS
View →
ATM
NM_000051.4:c.3285-15C>T
NP_000042.3:p.?
VUS
View →
NF1
NM_001042492.2:c.2092_2093insT
NP_001035957.1:p.(P698Lfs*2)
Likely Pathogenic
View →
TP53
NM_000546.5:c.309C>A
NP_000537.3:p.(Y103*)
Likely Pathogenic
View →
DNMT3A
NM_022552.4:c.1792C>T
NP_072046.2:p.(R598*)
Likely Pathogenic
View →
NF1
NM_001042492.2:c.1806A>G
NP_001035957.1:p.(E602=)
VUS
View →
TP53
NM_000546.5:c.782G>C
NP_000537.3:p.(S261T)
Likely Benign
View →
DNMT3A
NM_022552.4:c.2106T>A
NP_072046.2:p.(D702E)
Likely Pathogenic
View →
MSH2
NM_000251.3:c.1571G>A
NP_000242.1:p.(R524H)
VUS
View →
ATM
NM_000051.4:c.7308-9C>T
NP_000042.3:p.?
VUS
View →
MSH6
NM_000179.3:c.2017C>G
NP_000170.1:p.(P673A)
VUS
View →
MUTYH
NM_001128425.2:c.1186+17C>T
NP_001121897.1:p.?
VUS
View →
MUTYH
NM_001128425.2:c.505-4A>G
NP_001121897.1:p.?
Likely Benign
View →
MPL
NM_005373.2:c.1494_1495insGTGATCGCTCTG
NP_005364.1:p.(L498_H499insVIAL)
VUS
View →
SDHB
NM_003000.3:c.744C>G
NP_002991.2:p.(N248K)
VUS
View →
RAD51C
NM_058216.3:c.904+5G>T
NP_478123.1:p.?
Pathogenic
View →
MPL
NM_005373.2:c.1494_1495insGTGATCGCTCTG
NP_005364.1:p.(L498_H499insVIAL)
VUS
View →
BRCA2
NM_000059.4:c.7908T>A
NP_000050.3:p.(C2636*)
Pathogenic
View →
NF1
NM_001042492.2:c.4375_4377del
NP_001035957.1:p.(E1459del)
VUS
View →
NF1
NM_001042492.2:c.8161-1_8161delinsCT
NP_001035957.1:p.?
VUS
View →
APC
NM_001127510.3:c.3205A>G
NP_001120982.1:p.(R1069G)
Likely Benign
View →
PMS2
NM_000535.7:c.682G>A
NP_000526.2:p.(G228S)
VUS
View →
MSH2
NM_000251.3:c.1847C>G
NP_000242.1:p.(P616R)
VUS
View →
APC
NM_000038.6:c.2677G>A
NP_000029.2:p.(E893K)
VUS
View →
MLH3
NM_001040108.2:c.3280+14A>T
NP_001035197.1:p.?
Likely Benign
View →
MUTYH
NM_001128425.2:c.53C>T
NP_001121897.1:p.(P18L)
Likely Benign
View →
PALB2
NM_024675.4:c.1049_1051delinsTTCT
NP_078951.2:p.(Q350Lfs*11)
Pathogenic
View →
PALB2
NM_024675.4:c.1049_1050insT
NP_078951.2:p.(Q350Hfs*11)
Pathogenic
View →
MUTYH
NM_001128425.2:c.74G>A
NP_001121897.1:p.(G25D)
Likely Benign
View →
PALB2
NM_024675.4:c.1050_1051delinsTCT
NP_078951.2:p.(Q350Hfs*11)
Pathogenic
View →
BRCA1
NM_007294.4:c.598G>A
NP_009225.1:p.(G200R)
VUS
View →
PMS2
NM_000535.7:c.1501G>A
NP_000526.2:p.(V501M)
VUS
View →
POLD1
NM_002691.4:c.3218+4T>C
NP_002682.2:p.?
VUS
View →
RAD51C
NM_058216.3:c.571+15G>T
NP_478123.1:p.?
VUS
View →
PMS2
NM_000535.7:c.497T>C
NP_000526.2:p.(L166P)
VUS
View →
MSH3
NM_002439.5:c.1360C>T
NP_002430.3:p.(R454*)
Likely Pathogenic
View →
MLH3
NM_001040108.2:c.628C>T
NP_001035197.1:p.(R210*)
Likely Pathogenic
View →
POLD1
NM_002691.4:c.187G>A
NP_002682.2:p.(E63K)
VUS
View →
MLH3
NM_001040108.2:c.2390G>A
NP_001035197.1:p.(R797H)
Benign
View →
MUTYH
NM_001128425.2:c.1585C>A
NP_001121897.1:p.(L529M)
Likely Benign
View →
PTEN
NM_000314.8:c.758_760dup
NP_000305.3:p.(I253dup)
VUS
View →
ATM
NM_000051.4:c.5937A>G
NP_000042.3:p.(E1979=)
Likely Benign
View →
APC
NM_001127510.3:c.4413A>G
NP_001120982.1:p.(A1471=)
Likely Benign
View →
POLE
NM_006231.4:c.62+2T>G
NP_006222.2:p.?
Pathogenic
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CDKN2A
NM_000077.5:c.75A>G
NP_000068.1:p.(V25=)
VUS
View →
BRCA2
NM_000059.4:c.9934A>G
NP_000050.3:p.(I3312V)
Likely Benign
View →
PTEN
NM_000314.8:c.521del
NP_000305.3:p.(Y174Lfs*9)
Likely Pathogenic
View →
MSH6
NM_000179.3:c.2294G>C
NP_000170.1:p.(C765S)
VUS
View →
AXIN2
NM_004655.4:c.1365A>T
NP_004646.3:p.(P455=)
VUS
View →
POLE
NM_006231.4:c.6331-24C>T
NP_006222.2:p.?
VUS
View →
ATM
NM_000051.4:c.6317A>T
NP_000042.3:p.(N2106I)
VUS
View →
POLD1
NM_002691.4:c.3205G>A
NP_002682.2:p.(V1069I)
VUS
View →
GALNT12
NM_024642.5:c.567T>C
NP_078918.3:p.(N189=)
VUS
View →
MBD4
NM_001276270.2:c.1684G>C
NP_001263199.1:p.(D562H)
Likely Benign
View →
NTHL1
NM_002528.7:c.900C>T
NP_002519.2:p.(A300=)
VUS
View →
APC
NM_001127510.3:c.6907G>A
NP_001120982.1:p.(G2303R)
Benign
View →
POLD1
NM_002691.4:c.1681C>T
NP_002682.2:p.(R561W)
VUS
View →
AXIN2
NM_004655.4:c.1530G>A
NP_004646.3:p.(T510=)
Likely Benign
View →