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
PTPN4
Recently interpreted
Newest first across every gene. Pick a gene above to narrow the list.
Variant
Protein change
Classification
RAD51D
NM_002878.4:c.446T>A
NP_002869.3:p.(L149Q)
VUS
View →
AKT1
NM_001014431.1:c.49G>A
NP_001014431.1:p.(E17K)
Likely Pathogenic
View →
TP53
NM_000546.6:c.524G>A
NP_000537.3:p.(R175H)
Likely Pathogenic
View →
ERBB2
NM_004448.4:c.2264T>C
NP_004439.2:p.(L755S)
Likely Pathogenic
View →
MLH1
NM_000249.4:c.1094G>A
NP_000240.1:p.(S365N)
VUS
View →
CHEK2
NM_007194.4:c.1427C>T
NP_009125.1:p.(T476M)
Likely Benign
View →
ERBB4
NM_005235.2:c.2371A>G
NP_005226.1:p.(T791A)
VUS
View →
CDKN2B
NM_004936.3:c.338G>A
NP_004927.2:p.(G113D)
VUS
View →
STK11
NM_000455.5:c.580G>C
NP_000446.1:p.(D194H)
VUS
View →
MAP2K1
NM_002755.3:c.146G>A
NP_002746.1:p.(R49H)
VUS
View →
CDK2
NM_001798.4:c.665C>T
NP_001789.2:p.(P222L)
VUS
View →
NOTCH3
NM_000435.2:c.4688C>T
NP_000426.2:p.(P1563L)
VUS
View →
CREBBP
NM_004380.2:c.5671G>A
NP_004371.2:p.(G1891R)
VUS
View →
NOTCH1
NM_017617.5:c.5353G>T
NP_060087.3:p.(E1785*)
Likely Pathogenic
View →
NTRK1
NM_002529.3:c.1065C>A
NP_002520.2:p.(N355K)
VUS
View →
APC
NM_001127511.3:c.1636C>T
NP_001120983.2:p.(R546*)
Likely Pathogenic
View →
MDM2
NM_002392.5:c.918+1G>C
NP_002383.2:p.?
Likely Pathogenic
View →
ATM
NM_000051.4:c.1009C>T
NP_000042.3:p.(R337C)
VUS
View →
PHF6
NM_001015877.1:c.823G>A
NP_001015877.1:p.(G275R)
VUS
View →
CTNNB1
NM_001098209.2:c.98C>T
NP_001091679.1:p.(S33F)
VUS
View →
MSH6
NM_000179.3:c.4002-26_4002-25insCT
NP_000170.1:p.?
Benign
View →
MSH6
NM_000179.3:c.4002-28_4002-26dup
NP_000170.1:p.?
Benign
View →
PALB2
NM_024675.4:c.509_510del
NP_078951.2:p.(R170Ifs*14)
Pathogenic
View →
CHEK2
NM_007194.4:c.953G>A
NP_009125.1:p.(R318H)
VUS
View →
VHL
NM_000551.3:c.-77C>T
NP_000542.1:p.?
Benign
View →
STK11
NM_000455.5:c.112C>G
NP_000446.1:p.(P38A)
VUS
View →
MUTYH
NM_001048171.1:c.995C>T
NP_001041636.1:p.(S332L)
VUS
View →
COL4A1
NM_001845.5:c.343G>A
NP_001836.3:p.(G115S)
VUS
View →
GNAQ
NM_002072.5:c.626A>T
NP_002063.2:p.(Q209L)
Pathogenic
View →
PTEN
NM_000314.8:c.492+14dup
NP_000305.3:p.?
Likely Benign
View →
TSC2
NM_000548.5:c.5186G>A
NP_000539.2:p.(R1729H)
VUS
View →
ATM
NM_000051.4:c.6572+11C>T
NP_000042.3:p.?
Likely Benign
View →
TSC2
NM_000548.5:c.729C>G
NP_000539.2:p.(L243=)
Benign
View →
SDHB
NM_003000.3:c.172A>G
NP_002991.2:p.(M58V)
VUS
View →
GALNT12
NM_024642.5:c.-28C>T
NP_078918.3:p.?
VUS
View →
BRCA1
NM_007294.4:c.4720G>T
NP_009225.1:p.(D1574Y)
Likely Benign
View →
CHEK2
NM_007194.4:c.1392G>T
NP_009125.1:p.(K464N)
VUS
View →
KEAP1
NM_012289.4:c.542_543insT
NP_036421.2:p.(S182Qfs*11)
VUS
View →
CDK4
NM_000075.4:c.823A>T
NP_000066.1:p.(M275L)
VUS
View →
PDGFRA
NM_006206.5:c.1780G>A
NP_006197.1:p.(V594M)
VUS
View →
NOTCH2
NM_024408.3:c.782T>G
NP_077719.2:p.(I261S)
VUS
View →
H3C2
NM_003537.3:c.244G>C
NP_003528.1:p.(D82H)
VUS
View →
CCND1
NM_053056.3:c.838G>T
NP_444284.1:p.(E280*)
VUS
View →
CHEK2
NM_007194.4:c.1513T>A
NP_009125.1:p.(S505T)
VUS
View →
NFE2L2
NM_006164.4:c.100C>G
NP_006155.2:p.(R34G)
VUS
View →
MBD4
NM_003925.3:c.1015G>A
NP_003916.1:p.(A339T)
VUS
View →
FLT3
NM_004119.3:c.1793_1794insCCTTCCTGTGACCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGA
NP_004110.2:p.(Y597_E598insDLPVTGSSDNEYFYVDFREY)
Likely Pathogenic
View →
PMS2
NM_000535.7:c.2566C>T
NP_000526.2:p.(L856=)
Likely Benign
View →
MSH6
NM_000179.3:c.260+21T>G
NP_000170.1:p.?
Likely Benign
View →
PALB2
NM_024675.4:c.928A>G
NP_078951.2:p.(S310G)
Likely Benign
View →
RAD51C
NM_058216.3:c.458G>A
NP_478123.1:p.(G153D)
VUS
View →
PALB2
NM_024675.4:c.928A>G
NP_078951.2:p.(S310G)
Likely Benign
View →
RAD51C
NM_058216.3:c.458G>A
NP_478123.1:p.(G153D)
VUS
View →
POLE
NM_006231.4:c.1708C>A
NP_006222.2:p.(L570M)
VUS
View →
MLH3
NM_001040108.2:c.20T>A
NP_001035197.1:p.(V7D)
VUS
View →
BRCA2
NM_000059.4:c.5344C>T
NP_000050.3:p.(Q1782*)
Pathogenic
View →
ATM
NM_000051.4:c.2873A>G
NP_000042.3:p.(E958G)
Benign
View →
FBP1
NM_000507.4:c.960delinsGG
NP_000498.2:p.(S321Vfs*13)
Likely Pathogenic
View →
BMPR1A
NM_004329.3:c.398A>G
NP_004320.2:p.(Y133C)
VUS
View →
NF1
NM_000267.3:c.4661+11A>G
NP_000258.1:p.?
Likely Benign
View →
DNMT3A
NM_022552.4:c.1154del
NP_072046.2:p.(P385Rfs*22)
Likely Pathogenic
View →
TP53
NM_000546.6:c.919+4A>G
NP_000537.3:p.?
VUS
View →
MITF
NM_198159.3:c.218G>A
NP_937802.1:p.(R73H)
VUS
View →
BRCA1
NM_007294.4:c.507G>A
NP_009225.1:p.(Q169=)
Likely Benign
View →
SDHB
NM_003000.3:c.-8G>C
NP_002991.2:p.?
VUS
View →
MLH1
NM_000249.4:c.222T>C
NP_000240.1:p.(D74=)
Likely Benign
View →
BRCA1
NM_007294.4:c.2657_2676del
NP_009225.1:p.(S886*)
Pathogenic
View →
BRCA2
NM_000059.4:c.4494T>A
NP_000050.3:p.(G1498=)
Likely Benign
View →
MSH6
NM_000179.3:c.1135_1139del
NP_000170.1:p.(R379*)
Pathogenic
View →
MLH1
NM_000249.4:c.677G>A
NP_000240.1:p.(R226Q)
Pathogenic
View →
CYP21A2
NM_000500.9:c.1439G>T
NP_000491.4:p.(R480L)
Likely Benign
View →
CYP21A2
—
Likely Benign
View →
PTEN
NM_000314.8:c.431A>C
NP_000305.3:p.(K144T)
VUS
View →
PTEN
NM_000314.8:c.238A>G
NP_000305.3:p.(K80E)
VUS
View →
CYP21A2
—
VUS
View →
PTCH1
NM_000264.5:c.536T>C
NP_000255.2:p.(L179P)
VUS
View →
PTCH1
NM_000264.5:c.4033C>G
NP_000255.2:p.(R1345G)
VUS
View →
CHEK2
NM_007194.4:c.542G>A
NP_009125.1:p.(R181H)
Likely Benign
View →
BRCA2
NM_000059.4:c.1909+11_1909+12del
NP_000050.3:p.?
Likely Benign
View →
EZH2
NM_004456.5:c.1937A>T
NP_004447.2:p.(Y646F)
Likely Pathogenic
View →
BCOR
NM_001123385.1:c.1005dup
NP_001116857.1:p.(S336Lfs*45)
VUS
View →
—
VUS
View →
BRCA1
NM_007294.4:c.670G>A
NP_009225.1:p.(A224T)
Likely Benign
View →
BRCA2
NM_000059.4:c.750G>A
NP_000050.3:p.(V250=)
Likely Benign
View →
MEN1
NM_000244.3:c.435C>T
NP_000235.2:p.(S145=)
Benign
View →
PTEN
NM_000314.8:c.210-2A>G
NP_000305.3:p.?
Likely Pathogenic
View →
ATM
NM_000051.4:c.9041_9042del
NP_000042.3:p.(Q3014Rfs*48)
Likely Pathogenic
View →
ATM
NM_000051.4:c.5983G>T
NP_000042.3:p.(E1995*)
Pathogenic
View →
CHEK2
NM_007194.4:c.1376-23G>C
NP_009125.1:p.?
VUS
View →
CTNNB1
NM_001904.4:c.802G>T
NP_001895.1:p.(G268*)
Likely Pathogenic
View →
B3GALT6
NM_080605.4:c.902_905dup
NP_542172.2:p.(E303Afs*141)
VUS
View →
B3GALT6
NM_080605.4:c.901_904dup
NP_542172.2:p.(R302Qfs*142)
VUS
View →
PALB2
NM_024675.4:c.1351T>G
NP_078951.2:p.(L451V)
VUS
View →
ATM
NM_000051.4:c.7381C>T
NP_000042.3:p.(R2461C)
VUS
View →
POLG
NM_001126131.1:c.3436C>T
NP_001119603.1:p.(R1146C)
VUS
View →
ATM
NM_000051.4:c.5164del
NP_000042.3:p.(L1722Wfs*2)
Pathogenic
View →
ATM
NM_000051.4:c.8047A>G
NP_000042.3:p.(I2683V)
VUS
View →
ATM
NM_000051.4:c.5600A>G
NP_000042.3:p.(Q1867R)
VUS
View →
KMT2A
NM_005933.3:c.2684A>G
NP_005924.2:p.(K895R)
VUS
View →
NF1
NM_000267.3:c.4270-9A>T
NP_000258.1:p.?
Likely Benign
View →