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
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
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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
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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
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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 →
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
View →
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 →