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
Recently interpreted
Newest first across every gene. Pick a gene above to narrow the list.
Variant
Protein change
Classification
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
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SDHB
NM_003000.3:c.744C>G
NP_002991.2:p.(N248K)
VUS
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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
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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
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PALB2
NM_024675.4:c.1049_1050insT
NP_078951.2:p.(Q350Hfs*11)
Pathogenic
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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
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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
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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 →
AXIN2
NM_004655.4:c.1235A>G
NP_004646.3:p.(N412S)
Likely Benign
View →
APC
NM_001127510.3:c.221-29G>C
NP_001120982.1:p.?
Benign
View →
PTEN
NM_000314.8:c.488_492+5del
NP_000305.3:p.?
VUS
View →
BRCA2
NM_000059.4:c.1167G>A
NP_000050.3:p.(P389=)
Likely Benign
View →
PTEN
NM_000314.8:c.165-10_209+6del
NP_000305.3:p.?
VUS
View →
PALB2
NM_024675.4:c.2052del
NP_078951.2:p.(R686Gfs*23)
Likely Pathogenic
View →
TP53
NM_000546.6:c.574C>T
NP_000537.3:p.(Q192*)
Likely Pathogenic
View →
AXIN2
NM_004655.4:c.1713-18G>A
NP_004646.3:p.?
VUS
View →
AXIN2
NM_004655.4:c.1985T>C
NP_004646.3:p.(L662P)
VUS
View →
TP53
NM_000546.5:c.202G>T
NP_000537.3:p.(E68*)
Likely Pathogenic
View →
TP53
NM_000546.5:c.202G>T
NP_000537.3:p.(E68*)
Likely Pathogenic
View →
POLE
NM_006231.4:c.547G>A
NP_006222.2:p.(A183T)
VUS
View →
MUTYH
NM_001128425.2:c.42C>T
NP_001121897.1:p.(I14=)
VUS
View →
POLE
NM_006231.4:c.2792T>C
NP_006222.2:p.(F931S)
VUS
View →
MSH6
NM_000179.3:c.3787C>T
NP_000170.1:p.(R1263C)
VUS
View →
BRCA1
NM_007294.4:c.3270A>G
NP_009225.1:p.(Q1090=)
Likely Benign
View →
PMS2
NM_000535.7:c.1145-11C>T
NP_000526.2:p.?
Likely Benign
View →
CTNNA1
NM_001903.5:c.*17C>T
NP_001894.2:p.(=)
VUS
View →
APC
NM_001127510.3:c.6196A>G
NP_001120982.1:p.(R2066G)
Likely Benign
View →
MPL
NM_005373.2:c.1513A>T
NP_005364.1:p.(S505C)
VUS
View →
MPL
NM_005373.2:c.1544G>T
NP_005364.1:p.(W515L)
Pathogenic
View →
BRAF
NM_004333.6:c.1799T>A
NP_004324.2:p.(V600E)
Likely Pathogenic
View →
EGFR
NM_005228.5:c.2573T>G
NP_005219.2:p.(L858R)
Likely Pathogenic
View →
EGFR
NM_005228.5:c.2369C>T
NP_005219.2:p.(T790M)
Likely Pathogenic
View →
BRCA2
NM_000059.4:c.3941A>G
NP_000050.3:p.(K1314R)
VUS
View →
MBD4
NM_001276270.2:c.-1G>A
NP_001263199.1:p.(=)
VUS
View →
CTNNA1
NM_001903.5:c.710A>G
NP_001894.2:p.(Y237C)
VUS
View →
MUTYH
NM_001128425.2:c.925C>T
NP_001121897.1:p.(R309C)
VUS
View →
CDK4
NM_000075.4:c.736C>T
NP_000066.1:p.(R246C)
VUS
View →
MSH3
NM_002439.5:c.316C>G
NP_002430.3:p.(Q106E)
VUS
View →
SMAD4
NM_005359.6:c.454+23C>T
NP_005350.1:p.?
Likely Benign
View →
SMAD4
NM_005359.6:c.454+23C>T
NP_005350.1:p.?
VUS
View →
CDK4
NM_000075.4:c.736C>T
NP_000066.1:p.(R246C)
VUS
View →
MSH3
NM_002439.5:c.316C>G
NP_002430.3:p.(Q106E)
VUS
View →
MUTYH
NM_001128425.2:c.925C>T
NP_001121897.1:p.(R309C)
VUS
View →
CTNNA1
NM_001903.5:c.710A>G
NP_001894.2:p.(Y237C)
VUS
View →
MBD4
NM_001276270.2:c.-1G>A
NP_001263199.1:p.(=)
VUS
View →
BRCA2
NM_000059.4:c.3941A>G
NP_000050.3:p.(K1314R)
Likely Benign
View →
EGFR
NM_005228.5:c.2369C>T
NP_005219.2:p.(T790M)
VUS
View →
EGFR
NM_005228.5:c.2573T>G
NP_005219.2:p.(L858R)
Pathogenic
View →
BRAF
NM_004333.6:c.1799T>A
NP_004324.2:p.(V600E)
Likely Pathogenic
View →
MPL
NM_005373.2:c.1544G>T
NP_005364.1:p.(W515L)
Likely Pathogenic
View →
MPL
NM_005373.2:c.1513A>T
NP_005364.1:p.(S505C)
VUS
View →
PTEN
NM_000314.8:c.276_277insG
NP_000305.3:p.(H93Afs*2)
Pathogenic
View →
BAP1
NM_004656.4:c.121G>A
NP_004647.1:p.(G41S)
Likely Benign
View →
APC
NM_001127510.3:c.-11G>C
NP_001120982.1:p.(=)
VUS
View →
SMAD4
NM_005359.6:c.463A>G
NP_005350.1:p.(S155G)
VUS
View →
MBD4
NM_001276270.2:c.335+1G>A
NP_001263199.1:p.?
Pathogenic
View →
APC
NM_001127510.3:c.6873A>T
NP_001120982.1:p.(Q2291H)
VUS
View →
APC
NM_001127510.3:c.1631T>C
NP_001120982.1:p.(I544T)
Likely Benign
View →
RAD51D
NM_002878.4:c.270_271dup
NP_002869.3:p.(K91Ifs*13)
Pathogenic
View →
MSH2
NM_000251.3:c.23C>G
NP_000242.1:p.(T8R)
VUS
View →