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
MBD4
NM_001276270.2:c.1543+14C>T
NP_001263199.1:p.?
Benign
View →
APC
NM_001127510.3:c.608A>G
NP_001120982.1:p.(Q203R)
—
View →
PRKN
NM_004562.2:c.1204C>T
NP_004553.2:p.(R402C)
Likely Benign
View →
TAF1
NM_004606.4:c.3811_3812delinsCC
NP_004597.2:p.(K1271P)
VUS
View →
PRKN
NM_004562.2:c.758G>A
NP_004553.2:p.(C253Y)
Likely Pathogenic
View →
CDH1
NM_004360.5:c.48+7C>T
NP_004351.1:p.?
Likely Benign
View →
TSC2
NM_000548.5:c.3884-23C>T
NP_000539.2:p.?
VUS
View →
BRCA2
NM_000059.4:c.3995A>G
NP_000050.3:p.(H1332R)
VUS
View →
PRPF8
NM_006445.3:c.2631G>A
NP_006436.3:p.(A877=)
Likely Benign
View →
PRPF8
NM_006445.3:c.1855-13C>T
NP_006436.3:p.?
Benign
View →
PRPF8
NM_006445.3:c.6247C>T
NP_006436.3:p.(L2083=)
Likely Benign
View →
GATA2
NM_001145661.1:c.474C>T
NP_001139133.1:p.(S158=)
Likely Benign
View →
DNMT3A
NM_022552.4:c.1055G>A
NP_072046.2:p.(S352N)
VUS
View →
TERT
NM_198253.2:c.2517G>A
NP_937983.2:p.(T839=)
Benign
View →
DNMT3A
NM_022552.4:c.2322+3A>G
NP_072046.2:p.?
VUS
View →
PRPF8
NM_006445.3:c.6247C>T
NP_006436.3:p.(L2083=)
—
View →
PRPF8
NM_006445.3:c.3299+14T>C
NP_006436.3:p.?
—
View →
PRPF8
NM_006445.3:c.2631G>A
NP_006436.3:p.(A877=)
—
View →
PRPF8
NM_006445.3:c.1929C>T
NP_006436.3:p.(G643=)
—
View →
PRPF8
NM_006445.3:c.1855-13C>T
NP_006436.3:p.?
—
View →
PRPF8
NM_006445.3:c.1666C>T
NP_006436.3:p.(L556=)
Likely Benign
View →
PRPF8
NM_006445.3:c.6854-4G>A
NP_006436.3:p.?
Benign
View →
TET2
NM_001127208.2:c.4555G>A
NP_001120680.1:p.(G1519R)
VUS
View →
TERT
NM_198253.2:c.2775C>T
NP_937983.2:p.(H925=)
Likely Benign
View →
PDGFRA
NM_006206.5:c.1988C>T
NP_006197.1:p.(A663V)
VUS
View →
NF2
NM_000268.3:c.604G>T
NP_000259.1:p.(E202*)
Pathogenic
View →
SETD2
NM_014159.6:c.5746C>T
NP_054878.5:p.(P1916S)
VUS
View →
NTRK1
NM_002529.3:c.1474G>A
NP_002520.2:p.(E492K)
Likely Pathogenic
View →
IDH2
NM_002168.3:c.514A>G
NP_002159.2:p.(R172G)
Pathogenic
View →
KRAS
NM_033360.4:c.407G>A
NP_203524.1:p.(S136N)
—
View →
EZHIP
NM_203407.3:c.741A>T
NP_981952.1:p.(P247=)
Likely Benign
View →
PIK3R1
NM_181523.2:c.1355A>G
NP_852664.1:p.(Y452C)
VUS
View →
TSC2
NM_000548.4:c.29G>T
NP_000539.2:p.(G10V)
VUS
View →
PTCH1
NM_000264.5:c.1913G>A
NP_000255.2:p.(R638H)
Likely Benign
View →
IDH2
NM_002168.3:c.419G>A
NP_002159.2:p.(R140Q)
Pathogenic
View →
MYCN
NM_005378.6:c.1069C>T
NP_005369.2:p.(R357C)
VUS
View →
MSH6
NM_000179.2:c.1796G>A
NP_000170.1:p.(G599E)
—
View →
NTRK1
NM_002529.3:c.926C>T
NP_002520.2:p.(P309L)
VUS
View →
BRCA2
NM_000059.4:c.5238dup
NP_000050.3:p.(N1747*)
—
View →
ATM
NM_000051.4:c.4997A>C
NP_000042.3:p.(E1666A)
VUS
View →
BRCA1
NM_007294.4:c.302-10_302-5delinsATTTTA
NP_009225.1:p.?
VUS
View →
NTRK1
NM_002529.3:c.737C>T
NP_002520.2:p.(S246F)
VUS
View →
HRAS
NM_005343.4:c.403C>G
NP_005334.1:p.(R135G)
VUS
View →
ATR
NM_001184.3:c.2804A>C
NP_001175.2:p.(Q935P)
VUS
View →
FH
NM_000143.4:c.151C>T
NP_000134.2:p.(R51W)
VUS
View →
ATM
NM_000051.4:c.7913G>A
NP_000042.3:p.(W2638*)
Pathogenic
View →
FH
NM_000143.4:c.1127A>C
NP_000134.2:p.(Q376P)
VUS
View →
PTEN
NM_000314.8:c.389_405delinsTAACTGGTGTAATGATG
NP_000305.3:p.(R130_I135delinsLTGVMM)
VUS
View →
PTEN
NM_000314.8:c.405A>G
NP_000305.3:p.(I135M)
Likely Pathogenic
View →
PTPN11
NM_002834.4:c.1508G>T
NP_002825.3:p.(G503V)
Pathogenic
View →
FH
NM_000143.4:c.817G>A
NP_000134.2:p.(A273T)
Likely Pathogenic
View →
FH
NM_000143.4:c.364_367del
NP_000134.2:p.(K122Qfs*5)
VUS
View →
FH
NM_000143.4:c.434C>G
NP_000134.2:p.(S145*)
Pathogenic
View →
RB1
NM_000321.2:c.1027_1028del
NP_000312.2:p.(L343Sfs*3)
Pathogenic
View →
NTRK1
NM_002529.3:c.1031G>A
NP_002520.2:p.(G344E)
VUS
View →
CDK6
NM_001259.8:c.334G>A
NP_001250.1:p.(V112I)
VUS
View →
IDH1
NM_005896.3:c.394C>T
NP_005887.2:p.(R132C)
Pathogenic
View →
CDK4
NM_000075.4:c.355-1G>A
NP_000066.1:p.?
VUS
View →
ROS1
NM_002944.2:c.6100C>T
NP_002935.2:p.(L2034F)
VUS
View →
NTRK1
NM_002529.3:c.2004T>A
NP_002520.2:p.(D668E)
VUS
View →
MRE11
NM_005591.3:c.1602G>T
NP_005582.1:p.(E534D)
VUS
View →
FOXL2
NM_023067.4:c.469C>G
NP_075555.1:p.(P157A)
VUS
View →
MSH2
NM_000251.2:c.1511-1G>A
NP_000242.1:p.?
VUS
View →
TP53
NM_000546.6:c.390C>T
NP_000537.3:p.(L130=)
Likely Benign
View →
POLE
NM_006231.3:c.1763T>C
NP_006222.2:p.(V588A)
—
View →
CREBBP
NM_004380.2:c.3780-2A>G
NP_004371.2:p.?
Likely Pathogenic
View →
NTRK2
NM_006180.4:c.1979C>T
NP_006171.2:p.(P660L)
Likely Benign
View →
MSH2
NM_000251.2:c.366+1G>A
NP_000242.1:p.?
VUS
View →
DICER1
NM_177438.2:c.3334A>G
NP_803187.1:p.(N1112D)
Likely Benign
View →
NOTCH2
NM_024408.3:c.6205C>A
NP_077719.2:p.(P2069T)
VUS
View →
ATRX
NM_000489.5:c.371-1G>A
NP_000480.3:p.?
—
View →
ATRX
NM_000489.5:c.4434_4435del
NP_000480.3:p.(K1479Nfs*6)
—
View →
NF2
NM_000268.3:c.1035G>A
NP_000259.1:p.(M345I)
Likely Benign
View →
MLH1
NM_000249.3:c.1738G>A
NP_000240.1:p.(A580T)
VUS
View →
CHEK1
NM_001274.5:c.965G>A
NP_001265.2:p.(R322H)
VUS
View →
NRAS
NM_002524.5:c.183A>T
NP_002515.1:p.(Q61H)
Likely Pathogenic
View →
TERT
NM_198253.2:c.1234C>T
NP_937983.2:p.(H412Y)
Benign
View →
NOTCH3
NM_000435.2:c.5032G>T
NP_000426.2:p.(E1678*)
Pathogenic
View →
MET
NM_001127500.3:c.226G>A
NP_001120972.1:p.(E76K)
VUS
View →
ATRX
NM_000489.5:c.3334A>G
NP_000480.3:p.(T1112A)
VUS
View →
BRIP1
NM_032043.3:c.736A>G
NP_114432.2:p.(I246V)
VUS
View →
PMS2
NM_000535.6:c.1321G>T
NP_000526.2:p.(E441*)
VUS
View →
RB1
NM_000321.2:c.743G>C
NP_000312.2:p.(G248A)
VUS
View →
STK11
NM_000455.5:c.388G>T
NP_000446.1:p.(E130*)
Pathogenic
View →
CDK12
NM_016507.4:c.162del
NP_057591.2:p.(L55Wfs*2)
Likely Pathogenic
View →
CDKN2A
NM_000077.4:c.52_83del
NP_000068.1:p.(T18Afs*15)
—
View →
FBXW7
NM_033632.3:c.1436G>T
NP_361014.1:p.(R479L)
Likely Pathogenic
View →
PMS2
NM_000535.7:c.2186_2187del
NP_000526.2:p.(L729Qfs*6)
Benign
View →
GBA1
NM_000157.4:c.1504C>T
NP_000148.2:p.(R502C)
Likely Pathogenic
View →
EZHIP
NM_203407.3:c.551A>G
NP_981952.1:p.(Y184C)
VUS
View →
FGFR1
NM_023110.3:c.2267G>A
NP_075598.2:p.(R756H)
VUS
View →
CDH1
NM_004360.5:c.2077G>A
NP_004351.1:p.(G693S)
VUS
View →
BRCA1
NM_007294.4:c.4689C>G
NP_009225.1:p.(Y1563*)
Pathogenic
View →
KIT
NM_000222.2:c.1679_1738delinsATG
NP_000213.1:p.(V560_H580delinsDD)
VUS
View →
SETD2
NM_014159.6:c.4264C>T
NP_054878.5:p.(Q1422*)
VUS
View →
TET2
NM_001127208.2:c.3765C>G
NP_001120680.1:p.(Y1255*)
Likely Pathogenic
View →
DNMT3A
NM_022552.4:c.1555-13C>A
NP_072046.2:p.?
VUS
View →
MSH2
NM_000251.3:c.2001_2002del
NP_000242.1:p.(T668Wfs*7)
VUS
View →
POLE
NM_006231.4:c.6816G>A
NP_006222.2:p.(E2272=)
VUS
View →
POLE
NM_006231.4:c.6150C>A
NP_006222.2:p.(F2050L)
VUS
View →