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
KCNJ11
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
SDHB
NM_003000.3:c.73-29del
NP_002991.2:p.?
VUS
View →
ATM
NM_000051.4:c.7628dup
NP_000042.3:p.(N2543Kfs*5)
Pathogenic
View →
PIK3CA
NM_006218.4:c.268T>C
NP_006209.2:p.(C90R)
VUS
View →
AXIN2
NM_004655.4:c.405C>T
NP_004646.3:p.(Y135=)
VUS
View →
POLE
NM_006231.4:c.2706+5G>A
NP_006222.2:p.?
VUS
View →
BARD1
NM_000465.4:c.1935_1954dup
NP_000456.2:p.(E652Vfs*69)
Likely Pathogenic
View →
PTCH1
NM_000264.5:c.324A>G
NP_000255.2:p.(I108M)
VUS
View →
RB1
NM_000321.3:c.2165A>G
NP_000312.2:p.(K722R)
VUS
View →
MLH3
NM_001040108.2:c.3828-24dup
NP_001035197.1:p.?
Benign
View →
BRCA2
NM_000059.4:c.8537_8538del
NP_000050.3:p.(E2846Gfs*22)
Pathogenic
View →
PTEN
NM_000314.8:c.30_32del
NP_000305.3:p.(S10del)
VUS
View →
PTEN
NM_000314.8:c.155A>T
NP_000305.3:p.(D52V)
VUS
View →
POLE
NM_006231.4:c.5066C>T
NP_006222.2:p.(T1689I)
VUS
View →
RB1
NM_000321.3:c.13A>C
NP_000312.2:p.(T5P)
VUS
View →
POLE
NM_006231.4:c.122C>T
NP_006222.2:p.(T41M)
VUS
View →
TP53
NM_000546.6:c.820G>T
NP_000537.3:p.(V274F)
Likely Pathogenic
View →
PTEN
NM_000314.8:c.765_801+20delinsC
NP_000305.3:p.?
Likely Pathogenic
View →
PIK3CA
NM_006218.4:c.317G>C
NP_006209.2:p.(G106A)
VUS
View →
PTEN
NM_000314.8:c.538del
NP_000305.3:p.(Y180Tfs*3)
Likely Pathogenic
View →
PIK3CA
NM_006218.4:c.1346C>T
NP_006209.2:p.(P449L)
VUS
View →
POLE
NM_006231.4:c.590G>T
NP_006222.2:p.(R197M)
VUS
View →
POLE
NM_006231.4:c.1794+19G>T
NP_006222.2:p.?
VUS
View →
ERBB3
NM_001982.4:c.994G>A
NP_001973.2:p.(E332K)
VUS
View →
TP53
NM_000546.6:c.599_600del
NP_000537.3:p.(N200Ifs*8)
Likely Pathogenic
View →
TP53
NM_000546.6:c.1118A>G
NP_000537.3:p.(K373R)
Likely Benign
View →
TP53
NM_000546.6:c.1118A>G
NP_000537.3:p.(K373R)
Not classified
View →
TP53
NM_000546.6:c.599_600del
NP_000537.3:p.(N200Ifs*8)
Not classified
View →
TP53
NM_000546.6:c.797G>T
NP_000537.3:p.(G266V)
VUS
View →
TSC2
NM_000548.5:c.1292C>T
NP_000539.2:p.(A431V)
VUS
View →
NF1
NM_001042492.3:c.6737del
NP_001035957.1:p.(P2246Qfs*19)
Likely Pathogenic
View →
TARDBP
NM_007375.4:c.883G>A
NP_031401.1:p.(G295S)
VUS
View →
TARDBP
NM_007375.4:c.881G>T
NP_031401.1:p.(G294V)
VUS
View →
MSH6
NM_000179.3:c.3674C>T
NP_000170.1:p.(T1225M)
VUS
View →
RB1
NM_000321.3:c.*1G>C
NP_000312.2:p.?
VUS
View →
GJB2
NM_004004.6:c.445G>A
NP_003995.2:p.(A149T)
VUS
View →
RB1
NM_000321.3:c.1390-17T>A
NP_000312.2:p.?
VUS
View →
TP53
NM_000546.6:c.797G>T
NP_000537.3:p.(G266V)
VUS
View →
POLE
NM_006231.4:c.4275C>T
NP_006222.2:p.(G1425=)
VUS
View →
TP53
NM_000546.6:c.1001G>T
NP_000537.3:p.(G334V)
VUS
View →
DICER1
NM_177438.3:c.4014G>A
NP_803187.1:p.(A1338=)
Benign
View →
RET
NM_020975.6:c.2073T>C
NP_066124.1:p.(G691=)
VUS
View →
ATM
NM_000051.4:c.4324T>C
NP_000042.3:p.(Y1442H)
VUS
View →
TSC2
NM_000548.5:c.2476C>A
NP_000539.2:p.(L826M)
Likely Benign
View →
VHL
NM_000551.4:c.541G>A
NP_000542.1:p.(V181I)
VUS
View →
—
VUS
View →
TP53
NM_000546.6:c.266_267del
NP_000537.3:p.(P89Lfs*59)
Likely Pathogenic
View →
PTEN
NM_000314.8:c.395G>T
NP_000305.3:p.(G132V)
VUS
View →
PTEN
NM_000314.8:c.129_155del
NP_000305.3:p.(E43_D51del)
VUS
View →
PTEN
NM_000314.8:c.63C>T
NP_000305.3:p.(F21=)
VUS
View →
PMS2
NM_000535.7:c.1169C>G
NP_000526.2:p.(A390G)
VUS
View →
MLH1
NM_000249.4:c.2044_2045del
NP_000240.1:p.(M682Vfs*11)
VUS
View →
MLH1
NM_000249.4:c.549T>A
NP_000240.1:p.(Y183*)
VUS
View →
PTEN
NM_000314.8:c.1027-2A>C
NP_000305.3:p.?
Pathogenic
View →
PTEN
NM_000314.8:c.700_701del
NP_000305.3:p.(R234Gfs*8)
Likely Pathogenic
View →
BRCA2
NM_000059.4:c.6546_6574del
NP_000050.3:p.(K2182Nfs*5)
Not classified
View →
BRCA2
NM_000059.4:c.7317A>G
NP_000050.3:p.(G2439=)
Likely Benign
View →
BRCA2
NM_000059.4:c.2164A>T
NP_000050.3:p.(K722*)
VUS
View →
TP53
NM_000546.6:c.1066G>C
NP_000537.3:p.(G356R)
Likely Benign
View →
FGFR4
NM_213647.2:c.770C>T
NP_998812.1:p.(A257V)
VUS
View →
CDKN2A
NM_001195132.1:c.341C>T
NP_001182061.1:p.(P114L)
Pathogenic
View →
NRAS
NM_002524.5:c.182A>T
NP_002515.1:p.(Q61L)
VUS
View →
MYCN
NM_005378.5:c.926G>T
NP_005369.2:p.(G309V)
VUS
View →
CDKN2A
NM_000077.4:c.76G>C
NP_000068.1:p.(E26Q)
VUS
View →
NF1
NM_001042492.2:c.*4T>C
NP_001035957.1:p.?
Benign
View →
SETBP1
NM_015559.2:c.1150A>G
NP_056374.2:p.(R384G)
VUS
View →
PRPF8
NM_006445.3:c.4639-17T>G
NP_006436.3:p.?
Benign
View →
NF1
NM_001042492.2:c.4836-2A>G
NP_001035957.1:p.?
Pathogenic
View →
ETV6
NM_001987.4:c.1204T>G
NP_001978.1:p.(Y402D)
VUS
View →
ASXL1
NM_015338.5:c.2148dup
NP_056153.2:p.(R717*)
VUS
View →
ZRSR2
NM_005089.3:c.983_984insGAA
NP_005080.1:p.(F328delinsLN)
VUS
View →
ETV6
NM_001987.4:c.642G>A
NP_001978.1:p.(P214=)
Benign
View →
RAD51C
NM_058216.3:c.905-19T>C
NP_478123.1:p.?
VUS
View →
POLD1
NM_002691.4:c.1275C>T
NP_002682.2:p.(A425=)
Likely Benign
View →
SDHB
NM_003000.3:c.158G>A
NP_002991.2:p.(G53E)
Benign
View →
MSH6
NM_000179.3:c.2463A>C
NP_000170.1:p.(L821=)
Likely Benign
View →
TSC1
NM_000368.5:c.163C>T
NP_000359.1:p.(Q55*)
Likely Pathogenic
View →
AXIN2
NM_004655.4:c.2013_2024del
NP_004646.3:p.(T672_R675del)
Benign
View →
CTNNA1
NM_001903.5:c.347G>A
NP_001894.2:p.(C116Y)
VUS
View →
APC
NM_001127510.3:c.3479C>A
NP_001120982.1:p.(T1160K)
Likely Benign
View →
POLD1
NM_002691.4:c.653G>A
NP_002682.2:p.(R218H)
Likely Benign
View →
FANCD2
NM_033084.4:c.2255T>C
NP_149075.2:p.(I752T)
VUS
View →
NTHL1
NM_002528.7:c.31C>T
NP_002519.2:p.(R11W)
VUS
View →
NOTCH1
NM_017617.5:c.5885G>A
NP_060087.3:p.(R1962H)
VUS
View →
FGFR1
NM_001174067.1:c.1746C>A
NP_001167538.1:p.(C582*)
Likely Pathogenic
View →
PTEN
NM_000314.6:c.674_675dup
NP_000305.3:p.(S226Ifs*31)
Likely Pathogenic
View →
CDKN2A
NM_000077.4:c.221A>T
NP_000068.1:p.(D74V)
VUS
View →
NOTCH3
NM_000435.2:c.3192A>T
NP_000426.2:p.(E1064D)
VUS
View →
POLE
NM_006231.4:c.941C>A
NP_006222.2:p.(S314*)
Likely Pathogenic
View →
KRAS
NM_033360.4:c.292G>T
NP_203524.1:p.(E98*)
VUS
View →
POLE
NM_006231.4:c.4519_4520del
NP_006222.2:p.(Q1507Afs*37)
Likely Pathogenic
View →
CHEK1
NM_001274.5:c.484C>T
NP_001265.2:p.(R162C)
VUS
View →
MSH2
NM_000251.3:c.712del
NP_000242.1:p.(Y238Ifs*8)
VUS
View →
PTEN
NM_000314.8:c.775_781del
NP_000305.3:p.(H259Rfs*5)
Likely Pathogenic
View →
CTNNB1
NM_001904.4:c.134C>A
NP_001895.1:p.(S45Y)
VUS
View →
NOTCH2
NM_024408.3:c.5625del
NP_077719.2:p.(T1876Lfs*54)
Likely Pathogenic
View →
MLH1
NM_000249.4:c.1732-2A>G
NP_000240.1:p.?
Pathogenic
View →
SETD2
NM_014159.6:c.4260del
NP_054878.5:p.(E1420Dfs*12)
Likely Pathogenic
View →
COL4A2
NM_001846.4:c.4183C>T
NP_001837.2:p.(Q1395*)
VUS
View →
CDKN2A
NM_000077.4:c.307_308insT
NP_000068.1:p.(R103Lfs*17)
Likely Pathogenic
View →
BRIP1
NM_032043.3:c.2593C>T
NP_114432.2:p.(R865W)
VUS
View →