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
TP53
NM_000546.5:c.422G>A
NP_000537.3:p.(C141Y)
Likely Pathogenic
View →
BRCA2
NM_000059.4:c.5946del
NP_000050.3:p.(S1982Rfs*22)
Pathogenic
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CBL
NM_005188.3:c.1147A>C
NP_005179.2:p.(I383L)
VUS
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ATM
NM_000051.4:c.1355del
NP_000042.3:p.(T452Nfs*21)
Pathogenic
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TP53
NM_000546.5:c.833C>G
NP_000537.3:p.(P278R)
Likely Pathogenic
View →
TP53
NM_000546.6:c.700T>A
NP_000537.3:p.(Y234N)
Likely Pathogenic
View →
POLD1
NM_002691.4:c.2718-24A>C
NP_002682.2:p.?
Likely Benign
View →
MSH6
NM_000179.3:c.3312del
NP_000170.1:p.(F1104Lfs*11)
Pathogenic
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MSH2
NM_000251.3:c.609del
NP_000242.1:p.(G204Efs*10)
VUS
View →
MSH2
NM_000251.3:c.198C>A
NP_000242.1:p.(Y66*)
VUS
View →
PTEN
NM_000314.8:c.871_875del
NP_000305.3:p.(E291Wfs*5)
Likely Pathogenic
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PTEN
NM_000314.8:c.253+5G>T
NP_000305.3:p.?
VUS
View →
BRCA2
NM_000059.4:c.425G>A
NP_000050.3:p.(S142N)
VUS
View →
—
VUS
View →
—
VUS
View →
TP53
NM_000546.6:c.370T>C
NP_000537.3:p.(C124R)
Likely Pathogenic
View →
TP53
NM_000546.6:c.293C>G
NP_000537.3:p.(P98R)
VUS
View →
LRRK2
NM_198578.4:c.6055G>A
NP_940980.4:p.(G2019S)
Pathogenic
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MSH2
NM_000251.3:c.2458+8C>G
NP_000242.1:p.?
Likely Benign
View →
GBA1
NM_000157.4:c.1495G>C
NP_000148.2:p.(V499L)
VUS
View →
TP53
NM_000546.5:c.370T>C
NP_000537.3:p.(C124R)
Likely Pathogenic
View →
TP53
NM_000546.5:c.370T>G
NP_000537.3:p.(C124G)
VUS
View →
HTRA1
NM_002775.4:c.1333G>A
NP_002766.1:p.(A445T)
VUS
View →
HTRA1
NM_002775.4:c.333G>A
NP_002766.1:p.(V111=)
VUS
View →
PMS2
NM_000535.7:c.2265C>T
NP_000526.2:p.(I755=)
Likely Benign
View →
ATM
NM_000051.4:c.662+13_662+14del
NP_000042.3:p.?
Likely Benign
View →
BRCA2
NM_000059.4:c.8183T>C
NP_000050.3:p.(V2728A)
Likely Benign
View →
BRCA1
NM_007294.4:c.4450T>G
NP_009225.1:p.(S1484A)
Likely Benign
View →
STK11
NM_000455.5:c.734+17C>G
NP_000446.1:p.?
VUS
View →
HOXB13
NM_006361.6:c.567C>T
NP_006352.2:p.(N189=)
VUS
View →
SRSF2
NM_003016.4:c.283C>A
NP_003007.2:p.(P95T)
VUS
View →
MSH6
NM_000179.3:c.836G>A
NP_000170.1:p.(S279N)
VUS
View →
CUX1
NM_001202543.1:c.2983C>T
NP_001189472.1:p.(R995*)
Pathogenic
View →
DNMT3A
NM_022552.4:c.2395C>T
NP_072046.2:p.(P799S)
VUS
View →
PTEN
NM_000314.8:c.165-7T>C
NP_000305.3:p.?
VUS
View →
PTEN
NM_000314.8:c.143A>C
NP_000305.3:p.(N48T)
VUS
View →
POLE
NM_006231.4:c.1474-9C>T
NP_006222.2:p.?
Likely Benign
View →
TP53
NM_000546.5:c.413C>A
NP_000537.3:p.(A138D)
VUS
View →
BRCA1
NM_007294.3:c.5073A>G
NP_009225.1:p.(T1691=)
VUS
View →
ATM
NM_000051.3:c.8546G>C
NP_000042.3:p.(R2849P)
VUS
View →
ATM
NM_000051.3:c.5544T>C
NP_000042.3:p.(D1848=)
VUS
View →
TP53
NM_000546.5:c.509C>T
NP_000537.3:p.(T170M)
VUS
View →
BRAF
NM_001354609.1:c.1068A>G
NP_001341538.1:p.(Q356=)
Benign
View →
PALB2
NM_024675.3:c.721A>G
NP_078951.2:p.(N241D)
Benign
View →
RUNX1
NM_001001890.2:c.30C>T
NP_001001890.1:p.(S10=)
VUS
View →
PTPN11
NM_001330437.1:c.215C>T
NP_001317366.1:p.(A72V)
Pathogenic
View →
ATM
NM_000051.3:c.8751C>T
NP_000042.3:p.(G2917=)
Likely Benign
View →
NRAS
NM_002524.4:c.291-8G>A
NP_002515.1:p.?
VUS
View →
PALB2
NM_024675.3:c.82T>A
NP_078951.2:p.(Y28N)
VUS
View →
BRCA1
NM_007294.3:c.1233T>G
NP_009225.1:p.(D411E)
Not classified
View →
TP53
NM_000546.5:c.845G>T
NP_000537.3:p.(R282L)
VUS
View →
PTPN11
NM_001330437.1:c.1522A>G
NP_001317366.1:p.(M508V)
Likely Pathogenic
View →
RUNX1
NM_001001890.2:c.624C>T
NP_001001890.1:p.(A208=)
VUS
View →
PALB2
NM_024675.3:c.3049G>A
NP_078951.2:p.(A1017T)
VUS
View →
PTPN11
NM_001330437.1:c.417G>C
NP_001317366.1:p.(E139D)
Pathogenic
View →
PALB2
NM_024675.3:c.1684+1G>A
NP_078951.2:p.?
Pathogenic
View →
BRCA1
NM_007294.3:c.83T>C
NP_009225.1:p.(L28P)
Not classified
View →
BRAF
NM_001354609.1:c.736G>C
NP_001341538.1:p.(A246P)
Likely Pathogenic
View →
ATM
NM_000051.4:c.4247A>G
NP_000042.3:p.(Q1416R)
VUS
View →
ATM
NM_000051.4:c.8155C>T
NP_000042.3:p.(R2719C)
VUS
View →
TSC2
NM_000548.5:c.97G>C
NP_000539.2:p.(G33R)
VUS
View →
SDHA
NM_004168.4:c.163T>C
NP_004159.2:p.(Y55H)
Benign
View →
FH
NM_000143.4:c.301C>T
NP_000134.2:p.(R101*)
Pathogenic
View →
ATM
NM_000051.4:c.8261C>T
NP_000042.3:p.(T2754I)
VUS
View →
ATM
NM_000051.4:c.5178-28T>A
NP_000042.3:p.?
VUS
View →
MSH6
NM_000179.3:c.4002-28_4002-26dup
NP_000170.1:p.?
Benign
View →
MLH3
NM_001040108.2:c.1910G>A
NP_001035197.1:p.(R637H)
VUS
View →
BRCA2
NM_000059.4:c.2818C>T
NP_000050.3:p.(Q940*)
Pathogenic
View →
MSH6
NM_000179.3:c.3334G>A
NP_000170.1:p.(D1112N)
VUS
View →
CTNNA1
NM_001903.5:c.1618C>T
NP_001894.2:p.(R540C)
VUS
View →
MSH6
NM_000179.3:c.4002-17T>C
NP_000170.1:p.?
VUS
View →
BRCA2
NM_000059.4:c.5350_5351del
NP_000050.3:p.(N1784Hfs*2)
Pathogenic
View →
PALB2
NM_024675.4:c.2863dup
NP_078951.2:p.(S955Kfs*2)
Pathogenic
View →
STK11
NM_000455.5:c.49C>G
NP_000446.1:p.(L17V)
VUS
View →
BRCA2
NM_000059.4:c.9257-18C>A
NP_000050.3:p.?
Not classified
View →
BRCA1
NM_007294.4:c.3271C>G
NP_009225.1:p.(P1091A)
VUS
View →
PMS2
NM_000535.7:c.1128A>C
NP_000526.2:p.(P376=)
Likely Benign
View →
CDH1
NM_004360.5:c.1888C>G
NP_004351.1:p.(L630V)
Benign
View →
PALB2
NM_024675.4:c.2469C>G
NP_078951.2:p.(L823=)
Likely Benign
View →
TERT
NM_198253.2:c.1950+10C>T
NP_937983.2:p.?
Benign
View →
TERT
NM_198253.2:c.2031C>T
NP_937983.2:p.(G677=)
Benign
View →
TERT
NM_198253.2:c.2097C>T
NP_937983.2:p.(A699=)
Benign
View →
PRPF8
NM_006445.3:c.2409G>A
NP_006436.3:p.(A803=)
Benign
View →
—
VUS
View →
FLT3
NM_004119.2:c.1835_1836insGGCTTGGGAGTTTCCAAGAGAAAATTTAGAGTT
NP_004110.2:p.(E611_F612insLAWEFPRENLE)
Likely Pathogenic
View →
KMT2A
NM_005933.3:c.8956G>A
NP_005924.2:p.(E2986K)
VUS
View →
CBL
NM_005188.3:c.1147A>G
NP_005179.2:p.(I383V)
VUS
View →
DICER1
NM_177438.3:c.4680G>A
NP_803187.1:p.(A1560=)
Benign
View →
DICER1
NM_177438.3:c.3033G>A
NP_803187.1:p.(A1011=)
Benign
View →
PMS2
NM_000535.7:c.1239del
NP_000526.2:p.(D414Tfs*34)
VUS
View →
TP53
NM_000546.6:c.267del
NP_000537.3:p.(S90Pfs*33)
Likely Pathogenic
View →
CTNNB1
NM_001904.4:c.1149G>T
NP_001895.1:p.(W383C)
VUS
View →
POLE
NM_006231.4:c.2137G>A
NP_006222.2:p.(E713K)
VUS
View →
BRCA1
NM_007294.4:c.67G>A
NP_009225.1:p.(E23K)
Likely Benign
View →
BRCA2
NM_000059.4:c.4757C>T
NP_000050.3:p.(T1586I)
VUS
View →
TP53
NM_000546.6:c.832_839dup
NP_000537.3:p.(R280Sfs*68)
Likely Pathogenic
View →
PTEN
NM_000314.8:c.367C>G
NP_000305.3:p.(H123D)
Likely Pathogenic
View →
PTEN
NM_000314.8:c.322C>G
NP_000305.3:p.(L108V)
VUS
View →
ATM
NM_000051.4:c.6801C>T
NP_000042.3:p.(N2267=)
VUS
View →
MSH6
NM_000179.3:c.3261del
NP_000170.1:p.(F1088Sfs*2)
Pathogenic
View →