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
Recently interpreted
Newest first across every gene. Pick a gene above to narrow the list.
Variant
Protein change
Classification
KLLN
NM_001126049.2:c.184C>G
NP_001119521.1:p.(R62G)
Benign
View →
EIF1AX
NM_001412.4:c.26G>A
NP_001403.1:p.(G9D)
VUS
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CDKN2A
NM_001195132.1:c.226del
NP_001182061.1:p.(A76Pfs*70)
Likely Pathogenic
View →
PTEN
NM_000314.8:c.388_389insA
NP_000305.3:p.(R130Qfs*50)
Pathogenic
View →
PTEN
NM_000314.8:c.106G>C
NP_000305.3:p.(G36R)
VUS
View →
KRAS
NM_033360.4:c.-11-30T>C
NP_203524.1:p.?
Likely Benign
View →
NTRK1
NM_002529.3:c.334C>T
NP_002520.2:p.(H112Y)
VUS
View →
DNAH11
NM_001277115.2:c.4879C>T
NP_001264044.1:p.(R1627C)
VUS
View →
PIK3CA
NM_006218.3:c.3133G>A
NP_006209.2:p.(D1045N)
VUS
View →
FGFR4
NM_213647.2:c.1162G>A
NP_998812.1:p.(G388R)
Benign
View →
POLE
NM_006231.4:c.1270C>A
NP_006222.2:p.(L424I)
Likely Pathogenic
View →
TERT
NM_198253.2:c.2509C>T
NP_937983.2:p.(L837F)
VUS
View →
SF3B1
NM_012433.3:c.2352G>A
NP_036565.2:p.(M784I)
VUS
View →
PTCH1
NM_000264.5:c.113G>A
NP_000255.2:p.(G38E)
Likely Benign
View →
GNAS
NM_000516.5:c.602G>A
NP_000507.1:p.(R201H)
Pathogenic
View →
CTNNB1
NM_001098209.2:c.110C>T
NP_001091679.1:p.(S37F)
Likely Pathogenic
View →
ALK
NM_004304.4:c.3373G>A
NP_004295.2:p.(G1125S)
VUS
View →
MSH6
NM_000179.3:c.3602_3606delinsAA
NP_000170.1:p.(L1201_M1202delinsQ)
VUS
View →
EGFR
NM_005228.4:c.2146A>G
NP_005219.2:p.(K716E)
VUS
View →
STAG2
NM_001042749.1:c.1018-1G>A
NP_001036214.1:p.?
Pathogenic
View →
TET2
NM_001127208.2:c.4354C>T
NP_001120680.1:p.(R1452*)
Likely Pathogenic
View →
PPM1D
NM_003620.3:c.1535del
NP_003611.1:p.(N512Ifs*2)
Likely Pathogenic
View →
RNF43
NM_017763.5:c.1148T>C
NP_060233.3:p.(M383T)
Likely Benign
View →
ROS1
NM_002944.2:c.6497C>G
NP_002935.2:p.(S2166C)
VUS
View →
SF3B1
NM_012433.3:c.1874G>T
NP_036565.2:p.(R625L)
VUS
View →
FBXW7
NM_033632.3:c.1922C>G
NP_361014.1:p.(S641*)
Likely Pathogenic
View →
CDK6
NM_001259.8:c.197G>A
NP_001250.1:p.(R66K)
VUS
View →
NOTCH3
NM_000435.2:c.2299C>A
NP_000426.2:p.(R767S)
VUS
View →
PALB2
NM_024675.4:c.886dup
NP_078951.2:p.(M296Nfs*7)
Pathogenic
View →
DDX41
NM_016222.2:c.299-3C>T
NP_057306.2:p.?
Not classified
View →
RAD51D
NM_002878.3:c.26G>C
NP_002869.3:p.(C9S)
Likely Benign
View →
KRAS
NM_033360.3:c.460G>A
NP_203524.1:p.(D154N)
VUS
View →
KDR
NM_002253.3:c.3299C>T
NP_002244.1:p.(S1100F)
VUS
View →
FANCL
NM_018062.3:c.1A>G
NP_060532.2:p.(M1?)
VUS
View →
PMS2
NM_000535.7:c.2380C>T
NP_000526.2:p.(P794S)
VUS
View →
MSH2
NM_000251.3:c.1132del
NP_000242.1:p.(E378Kfs*34)
VUS
View →
POLD1
NM_002691.4:c.2716_2717del
NP_002682.2:p.(R906Dfs*47)
Likely Pathogenic
View →
MLH1
NM_000249.4:c.1515T>C
NP_000240.1:p.(S505=)
Likely Benign
View →
MLH1
NM_000249.4:c.307-1G>A
NP_000240.1:p.?
VUS
View →
SMAD4
NM_005359.5:c.1082G>A
NP_005350.1:p.(R361H)
Pathogenic
View →
FANCA
NM_000135.3:c.2942G>C
NP_000126.2:p.(C981S)
VUS
View →
PALB2
NM_024675.4:c.740C>G
NP_078951.2:p.(T247R)
VUS
View →
CDK4
NM_000075.4:c.71G>T
NP_000066.1:p.(R24L)
Likely Pathogenic
View →
KEAP1
NM_012289.4:c.887G>A
NP_036421.2:p.(R296H)
Benign
View →
POLE
NM_006231.3:c.4189C>A
NP_006222.2:p.(L1397I)
VUS
View →
PIK3CA
NM_006218.3:c.370C>T
NP_006209.2:p.(P124S)
VUS
View →
ROS1
NM_002944.2:c.5977G>A
NP_002935.2:p.(E1993K)
VUS
View →
AR
NM_000044.4:c.59G>A
NP_000035.2:p.(R20Q)
VUS
View →
DICER1
NM_177438.2:c.5125G>C
NP_803187.1:p.(D1709H)
Likely Pathogenic
View →
STK11
NM_000455.4:c.717G>C
NP_000446.1:p.(W239C)
Likely Pathogenic
View →
ESR1
NM_001122740.1:c.1150C>G
NP_001116212.1:p.(L384V)
VUS
View →
NRAS
NM_002524.5:c.182A>G
NP_002515.1:p.(Q61R)
Pathogenic
View →
ESR1
NM_001122740.1:c.173C>T
NP_001116212.1:p.(A58V)
VUS
View →
FGFR2
NM_000141.4:c.1223A>C
NP_000132.3:p.(D408A)
VUS
View →
EIF1AX
NM_001412.4:c.17G>T
NP_001403.1:p.(G6V)
VUS
View →
NBN
NM_002485.4:c.657_661del
NP_002476.2:p.(K219Nfs*16)
Pathogenic
View →
CDKN2B
NM_004936.3:c.125G>A
NP_004927.2:p.(G42E)
VUS
View →
BRCA1
NM_007294.3:c.1568T>G
NP_009225.1:p.(L523W)
Likely Benign
View →
TERT
NM_198253.2:c.875C>T
NP_937983.2:p.(T292M)
VUS
View →
NTRK2
NM_006180.4:c.1937G>A
NP_006171.2:p.(R646K)
VUS
View →
MYC
NM_002467.6:c.779C>A
NP_002458.2:p.(P260Q)
VUS
View →
NTRK1
NM_002529.3:c.316G>A
NP_002520.2:p.(V106M)
VUS
View →
CDK12
NM_016507.4:c.86G>C
NP_057591.2:p.(S29T)
VUS
View →
ATR
NM_001184.3:c.1316A>G
NP_001175.2:p.(N439S)
VUS
View →
NOTCH1
NM_017617.5:c.1093C>T
NP_060087.3:p.(R365C)
VUS
View →
FANCI
NM_001113378.1:c.2348A>G
NP_001106849.1:p.(D783G)
VUS
View →
CDK6
NM_001259.8:c.763C>T
NP_001250.1:p.(H255Y)
VUS
View →
H3-3A
NM_002107.4:c.83A>T
NP_002098.1:p.(K28M)
VUS
View →
MYC
NM_002467.5:c.154_156del
NP_002458.2:p.(Q52del)
VUS
View →
CDK6
NM_001259.8:c.880_955delinsTCTGGCTGGGCGGCAGGTGGGAATCCAGGTTTTCTTTGCACCTTTCC
NP_001250.1:p.(A294Sfs*31)
VUS
View →
GNAQ
NM_002072.5:c.627A>C
NP_002063.2:p.(Q209H)
Likely Pathogenic
View →
FOXL2
NM_023067.4:c.297_311del
NP_075555.1:p.(Q99_R103del)
VUS
View →
MUTYH
NM_001128425.2:c.690+12G>T
NP_001121897.1:p.?
Likely Benign
View →
RPS20
NM_001023.4:c.24A>G
NP_001014.1:p.(K8=)
Likely Benign
View →
CDK6
NM_001259.8:c.745C>T
NP_001250.1:p.(L249F)
VUS
View →
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*)
Not classified
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 →