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
MLH1
NM_000249.4:c.342_347del
NP_000240.1:p.(I115_T116del)
VUS
View →
BARD1
NM_000465.4:c.1325C>T
NP_000456.2:p.(P442L)
Likely Benign
View →
CHEK2
NM_007194.4:c.751A>T
NP_009125.1:p.(I251F)
VUS
View →
NF2
NM_000268.3:c.1408C>G
NP_000259.1:p.(Q470E)
VUS
View →
RET
NM_020975.6:c.2689C>T
NP_066124.1:p.(R897*)
Pathogenic
View →
IDH1
NM_005896.3:c.395G>T
NP_005887.2:p.(R132L)
Pathogenic
View →
FANCA
NM_000135.3:c.2003G>T
NP_000126.2:p.(S668I)
VUS
View →
MSH2
NM_000251.2:c.873_876del
NP_000242.1:p.(T292Lfs*8)
Pathogenic
View →
MRE11
NM_005591.3:c.1444C>T
NP_005582.1:p.(Q482*)
VUS
View →
GBA1
NM_000157.4:c.1226A>G
NP_000148.2:p.(N409S)
Pathogenic
View →
MYCN
NM_005378.6:c.553G>A
NP_005369.2:p.(E185K)
VUS
View →
GNAQ
NM_002072.5:c.548G>A
NP_002063.2:p.(R183Q)
Pathogenic
View →
NRAS
NM_002524.5:c.183A>C
NP_002515.1:p.(Q61H)
Likely Pathogenic
View →
PPM1D
NM_003620.3:c.1384C>T
NP_003611.1:p.(Q462*)
In progress — classification not generated yet.
View →
PPM1D
NM_003620.3:c.1384C>T
NP_003611.1:p.(Q462*)
Likely Pathogenic
View →
PPM1D
NM_003620.3:c.1473dup
NP_003611.1:p.(N492*)
Likely Pathogenic
View →
PPM1D
NM_003620.3:c.1473dup
NP_003611.1:p.(N492*)
VUS
View →
PRKD1
NM_002742.3:c.2130A>C
NP_002733.2:p.(E710D)
VUS
View →
PPM1D
NM_003620.3:c.1473dup
NP_003611.1:p.(N492*)
VUS
View →
PPM1D
NM_003620.3:c.1384C>T
NP_003611.1:p.(Q462*)
Likely Pathogenic
View →
SDHA
NM_004168.4:c.1657G>A
NP_004159.2:p.(D553N)
VUS
View →
KIT
NM_000222.3:c.-14T>A
NP_000213.1:p.?
Benign
View →
MUTYH
NM_001128425.2:c.1255G>A
NP_001121897.1:p.(A419T)
VUS
View →
CDKN2A
NM_000077.5:c.306G>T
NP_000068.1:p.(A102=)
Likely Benign
View →
ATM
NM_000051.4:c.7875_7876delinsGC
NP_000042.3:p.(D2625_A2626delinsEP)
VUS
View →
MSH3
NM_002439.5:c.8G>A
NP_002430.3:p.(R3H)
Likely Benign
View →
ATM
NM_000051.4:c.7875T>G
NP_000042.3:p.(D2625E)
VUS
View →
MITF
NM_198159.3:c.394C>A
NP_937802.1:p.(Q132K)
VUS
View →
POLE
NM_006231.4:c.1871A>C
NP_006222.2:p.(H624P)
VUS
View →
BRCA1
NM_007294.4:c.3700_3704del
NP_009225.1:p.(V1234Qfs*8)
Pathogenic
View →
ATM
NM_000051.4:c.8419-7T>G
NP_000042.3:p.?
VUS
View →
ATM
NM_000051.4:c.7357C>T
NP_000042.3:p.(R2453C)
VUS
View →
BRCA1
NM_007294.4:c.738del
NP_009225.1:p.(N247Tfs*51)
Pathogenic
View →
POLE
NM_006231.4:c.-11C>T
NP_006222.2:p.?
VUS
View →
TSC2
NM_000548.4:c.981G>T
NP_000539.2:p.(M327I)
VUS
View →
TERT
NM_198253.2:c.2765T>A
NP_937983.2:p.(M922K)
—
View →
EGFR
NM_005228.4:c.1372G>A
NP_005219.2:p.(D458N)
VUS
View →
BAP1
NM_004656.4:c.86T>G
NP_004647.1:p.(V29G)
VUS
View →
MDM2
NM_002392.5:c.1270G>A
NP_002383.2:p.(E424K)
VUS
View →
PRPF8
NM_006445.3:c.3775-14del
NP_006436.3:p.?
Likely Benign
View →
KMT2A
NM_005933.3:c.5031G>A
NP_005924.2:p.(E1677=)
Likely Benign
View →
—
VUS
View →
PRPF8
NM_006445.3:c.3775-14del
NP_006436.3:p.?
Likely Benign
View →
TET2
NM_001127208.2:c.4466dup
NP_001120680.1:p.(N1489Kfs*2)
VUS
View →
TERT
NM_198253.2:c.468C>T
NP_937983.2:p.(C156=)
Likely Benign
View →
TET2
NM_001127208.2:c.5920A>C
NP_001120680.1:p.(R1974=)
VUS
View →
DNMT3A
NM_022552.4:c.1256del
NP_072046.2:p.(P419Lfs*232)
VUS
View →
CUX1
NM_001202543.1:c.2505G>A
NP_001189472.1:p.(W835*)
VUS
View →
SF3B1
NM_012433.2:c.2359del
NP_036565.2:p.(I787Lfs*3)
Likely Pathogenic
View →
U2AF1
NM_006758.2:c.132+18del
NP_006749.1:p.?
VUS
View →
PALB2
NM_024675.4:c.1001A>G
NP_078951.2:p.(Y334C)
VUS
View →
PPM1D
NM_003620.3:c.1619del
NP_003611.1:p.(E540Gfs*7)
VUS
View →
SH2B3
NM_005475.2:c.127C>T
NP_005466.1:p.(R43C)
VUS
View →
TET2
NM_001127208.2:c.5481del
NP_001120680.1:p.(K1827Nfs*6)
Likely Pathogenic
View →
BCORL1
NM_021946.4:c.3143G>A
NP_068765.3:p.(R1048Q)
VUS
View →
POLE
NM_006231.4:c.6330+19G>A
NP_006222.2:p.?
Benign
View →
POLD1
NM_002691.4:c.376C>A
NP_002682.2:p.(R126S)
VUS
View →
POLD1
NM_002691.4:c.2518G>A
NP_002682.2:p.(V840M)
VUS
View →
GATA2
NM_001145661.1:c.710G>A
NP_001139133.1:p.(G237D)
Benign
View →
POLD1
NM_002691.4:c.3046C>T
NP_002682.2:p.(R1016C)
VUS
View →
POLD1
NM_002691.4:c.1704G>A
NP_002682.2:p.(L568=)
VUS
View →
PMS2
NM_000535.7:c.33T>C
NP_000526.2:p.(P11=)
VUS
View →
PMS2
NM_000535.7:c.2096A>T
NP_000526.2:p.(D699V)
VUS
View →
PMS2
NM_000535.7:c.705+24C>T
NP_000526.2:p.?
Likely Benign
View →
PTEN
NM_000314.8:c.324_354del
NP_000305.3:p.(D109Lfs*15)
Likely Pathogenic
View →
BRIP1
NM_032043.3:c.1372G>C
NP_114432.2:p.(E458Q)
VUS
View →
TP53
NM_000546.6:c.431_436del
NP_000537.3:p.(Q144_W146delinsR)
VUS
View →
BRCA2
NM_000059.4:c.1501A>G
NP_000050.3:p.(I501V)
Likely Benign
View →
BRCA2
NM_000059.4:c.7092_7099del
NP_000050.3:p.(E2364Dfs*25)
Pathogenic
View →
BRCA2
NM_000059.4:c.6698C>A
NP_000050.3:p.(A2233D)
Likely Benign
View →
BARD1
NM_000465.4:c.1658C>G
NP_000456.2:p.(S553*)
Pathogenic
View →
MSH6
NM_000179.3:c.3162C>T
NP_000170.1:p.(I1054=)
Likely Benign
View →
CHEK2
NM_007194.4:c.400G>C
NP_009125.1:p.(D134H)
VUS
View →
BRCA1
NM_007294.4:c.2998_3003del
NP_009225.1:p.(E1000_E1001del)
Likely Benign
View →
BRCA2
NM_000059.4:c.7977-15T>G
NP_000050.3:p.?
VUS
View →
PTEN
NM_000314.8:c.-666G>A
NP_000305.3:p.?
Benign
View →
MLH1
NM_000249.4:c.1875T>G
NP_000240.1:p.(Y625*)
Pathogenic
View →
ATM
NM_000051.4:c.7927+13T>A
NP_000042.3:p.?
Likely Benign
View →
PIK3R1
NM_181523.2:c.1042del
NP_852664.1:p.(R348Efs*25)
Likely Pathogenic
View →
FGFR1
NM_023110.3:c.1368G>T
NP_075598.2:p.(M456I)
VUS
View →
TSC1
NM_000368.4:c.1801C>A
NP_000359.1:p.(P601T)
VUS
View →
CDKN2A
NM_001195132.1:c.124A>C
NP_001182061.1:p.(N42H)
VUS
View →
KDR
NM_002253.3:c.2300T>C
NP_002244.1:p.(I767T)
VUS
View →
PDGFRA
NM_006206.6:c.2524_2526delinsCGA
NP_006197.1:p.(D842R)
VUS
View →
PMS2
NM_000535.7:c.736_741delinsTGTGTGTGAAG
NP_000526.2:p.(P246Cfs*3)
Pathogenic
View →
DMP1
NM_004407.4:c.273del
NP_004398.1:p.(S92Pfs*141)
VUS
View →
SMARCA4
NM_001128849.1:c.2764T>A
NP_001122321.1:p.(W922R)
VUS
View →
CACNA1C
NM_000719.7:c.5779C>G
NP_000710.5:p.(H1927D)
VUS
View →
CDC73
NM_024529.5:c.237+29_237+32del
NP_078805.3:p.?
Benign
View →
MSH6
NM_000179.3:c.2526T>G
NP_000170.1:p.(A842=)
Likely Benign
View →
MSH6
NM_000179.3:c.3603C>A
NP_000170.1:p.(L1201=)
Likely Benign
View →
MSH2
NM_000251.3:c.211+9C>A
NP_000242.1:p.?
Likely Benign
View →
STK11
NM_000455.5:c.1226G>A
NP_000446.1:p.(R409Q)
VUS
View →
BRCA1
NM_007294.4:c.5057A>G
NP_009225.1:p.(H1686R)
Likely Pathogenic
View →
MSH6
NM_000179.3:c.533G>T
NP_000170.1:p.(R178L)
VUS
View →
GALNT12
NM_024642.5:c.5G>A
NP_078918.3:p.(W2*)
Likely Pathogenic
View →
MSH2
NM_000251.3:c.1316_1318del
NP_000242.1:p.(P439del)
VUS
View →
KDR
NM_002253.3:c.3247A>T
NP_002244.1:p.(T1083S)
VUS
View →
VHL
NM_000551.3:c.104C>T
NP_000542.1:p.(A35V)
Likely Benign
View →
MAP2K4
NM_003010.3:c.400C>T
NP_003001.1:p.(R134W)
VUS
View →