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.

1956 variants 222 genes page 20 of 20

Browse by gene

Ordered by number of pathogenic calls, then by volume.

222 genes
PTEN
82 variants · 2 transcripts
BRCA2
100 variants · 2 transcripts
TP53
75 variants · 2 transcripts
ATM
89 variants · 2 transcripts
BRCA1
68 variants · 2 transcripts
PALB2
61 variants · 2 transcripts
MLH1
28 variants · 2 transcripts
TET2
21 variants · 1 transcript
NRAS
18 variants · 2 transcripts
PTPN11
18 variants · 2 transcripts
MSH2
27 variants · 2 transcripts
BRAF
27 variants · 3 transcripts
KRAS
25 variants · 6 transcripts
RUNX1
23 variants · 2 transcripts
EGFR
10 variants · 2 transcripts
POLE
61 variants · 2 transcripts
MSH6
42 variants · 2 transcripts
SMARCA4
9 variants · 2 transcripts
NF1
25 variants · 3 transcripts
STK11
16 variants · 2 transcripts
RB1
12 variants · 2 transcripts
RET
10 variants · 2 transcripts
FH
9 variants · 1 transcript
FLT3
7 variants · 2 transcripts
FBXW7
7 variants · 1 transcript
GNAQ
5 variants · 2 transcripts
BARD1
18 variants · 1 transcript
APC
17 variants · 2 transcripts
CTNNB1
16 variants · 3 transcripts
CDKN2A
16 variants · 3 transcripts
TSC1
10 variants · 2 transcripts
PPM1D
9 variants · 1 transcript
IDH2
9 variants · 2 transcripts
NF2
9 variants · 1 transcript
HRAS
8 variants · 3 transcripts
ATRX
7 variants · 1 transcript
SMAD4
6 variants · 2 transcripts
GNA11
6 variants · 1 transcript
SETD2
6 variants · 1 transcript
ARID1A
5 variants · 1 transcript
IDH1
3 variants · 1 transcript
PIK3CA
41 variants · 3 transcripts
POLD1
21 variants · 2 transcripts
DICER1
16 variants · 2 transcripts
SF3B1
12 variants · 3 transcripts
DNMT3A
11 variants · 1 transcript
PIK3R1
9 variants · 1 transcript
ESR1
9 variants · 1 transcript
NOTCH3
8 variants · 1 transcript
FGFR1
7 variants · 2 transcripts
ZRSR2
6 variants · 1 transcript
KIT
6 variants · 2 transcripts
ERBB2
6 variants · 2 transcripts
BCOR
5 variants · 2 transcripts
EZH2
5 variants · 2 transcripts
CBL
5 variants · 1 transcript
GBA1
5 variants · 1 transcript
SMARCB1
4 variants · 1 transcript
FGFR3
4 variants · 1 transcript
GNAS
2 variants · 1 transcript
PMS2
21 variants · 2 transcripts
CHEK2
20 variants · 2 transcripts
TSC2
18 variants · 2 transcripts
MBD4
16 variants · 2 transcripts
PTCH1
14 variants · 2 transcripts
NTRK1
12 variants · 1 transcript
RAD51C
11 variants · 2 transcripts
ROS1
9 variants · 1 transcript
MLH3
8 variants · 1 transcript
MET
8 variants · 2 transcripts
CDK4
8 variants · 2 transcripts
RAD51D
8 variants · 2 transcripts
CDK12
8 variants · 1 transcript
VHL
7 variants · 2 transcripts
CREBBP
7 variants · 1 transcript
FGFR2
7 variants · 1 transcript
EIF1AX
7 variants · 1 transcript
CUX1
6 variants · 2 transcripts
MSH3
6 variants · 1 transcript
ATR
6 variants · 1 transcript
FANCD2
6 variants · 1 transcript
BAP1
6 variants · 1 transcript
AR
6 variants · 1 transcript
DDX41
5 variants · 1 transcript
ASXL1
5 variants · 1 transcript
NOTCH2
5 variants · 1 transcript
GALNT12
5 variants · 1 transcript
NOTCH1
5 variants · 1 transcript
RNF43
5 variants · 2 transcripts
NTRK2
5 variants · 1 transcript
ETV6
4 variants · 1 transcript
CYP21A2
4 variants · 1 transcript
PDGFRA
4 variants · 2 transcripts
MDM2
4 variants · 1 transcript
RAD50
4 variants · 1 transcript
FOXL2
4 variants · 1 transcript
STAG2
4 variants · 1 transcript
FGF3
4 variants · 1 transcript
LRRK2
3 variants · 2 transcripts
MPL
2 variants · 1 transcript
FLCN
2 variants · 1 transcript
ABL1
2 variants · 2 transcripts
RECQL4
2 variants · 2 transcripts
AKT1
2 variants · 1 transcript
PPP2R1A
2 variants · 1 transcript
U2AF1
2 variants · 1 transcript
SMO
2 variants · 1 transcript
CEBPA
2 variants · 1 transcript
NBN
2 variants · 1 transcript
PRKN
2 variants · 1 transcript
FBXO31
1 variant · 1 transcript
FBP1
1 variant · 1 transcript
MAX
1 variant · 1 transcript
MYD88
1 variant · 1 transcript
JAK2
1 variant · 1 transcript
SLC12A3
1 variant · 1 transcript
TERT
19 variants · 1 transcript
PRPF8
15 variants · 1 transcript
BRIP1
13 variants · 1 transcript
RAD51B
10 variants · 2 transcripts
AXIN2
10 variants · 1 transcript
EZHIP
9 variants · 1 transcript
MYC
9 variants · 2 transcripts
KMT2A
8 variants · 1 transcript
CDH1
8 variants · 1 transcript
BCORL1
7 variants · 1 transcript
KEAP1
7 variants · 1 transcript
MUTYH
7 variants · 2 transcripts
CHEK1
7 variants · 1 transcript
FANCL
7 variants · 1 transcript
CDK6
7 variants · 1 transcript
MYCN
7 variants · 2 transcripts
PHF6
5 variants · 1 transcript
SETBP1
5 variants · 1 transcript
SDHB
5 variants · 1 transcript
CCND1
5 variants · 1 transcript
FGFR4
5 variants · 1 transcript
SH2B3
4 variants · 1 transcript
GATA2
4 variants · 1 transcript
KLLN
4 variants · 1 transcript
CTNNA1
4 variants · 1 transcript
EPCAM
3 variants · 1 transcript
SDHA
3 variants · 1 transcript
LZTR1
3 variants · 1 transcript
MEN1
3 variants · 2 transcripts
BMPR1A
3 variants · 1 transcript
ALK
3 variants · 1 transcript
MYCL
3 variants · 1 transcript
ERBB3
3 variants · 2 transcripts
DDR2
3 variants · 1 transcript
NTRK3
3 variants · 1 transcript
SLX4
3 variants · 1 transcript
PPARG
3 variants · 1 transcript
KDR
3 variants · 1 transcript
MAP2K1
2 variants · 2 transcripts
HTRA1
2 variants · 1 transcript
B3GALT6
2 variants · 1 transcript
MITF
2 variants · 1 transcript
NFE2L2
2 variants · 1 transcript
H3C2
2 variants · 1 transcript
CDKN2B
2 variants · 1 transcript
SLC2A2
2 variants · 1 transcript
CCNE1
2 variants · 1 transcript
PRKD1
2 variants · 1 transcript
CDC73
2 variants · 1 transcript
MRE11
2 variants · 1 transcript
FANCA
2 variants · 1 transcript
FANCI
2 variants · 1 transcript
RAD54L
2 variants · 1 transcript
MYH7
2 variants · 2 transcripts
NTHL1
2 variants · 1 transcript
TARDBP
2 variants · 1 transcript
ANKRD26
1 variant · 1 transcript
WT1
1 variant · 1 transcript
RAF1
1 variant · 1 transcript
MAP2K2
1 variant · 1 transcript
LPL
1 variant · 1 transcript
CREB3L3
1 variant · 1 transcript
AIP
1 variant · 1 transcript
VPS13C
1 variant · 1 transcript
SPG11
1 variant · 1 transcript
SRSF2
1 variant · 1 transcript
HOXB13
1 variant · 1 transcript
POLG
1 variant · 1 transcript
COL4A1
1 variant · 1 transcript
CDK2
1 variant · 1 transcript
ERBB4
1 variant · 1 transcript
STAT3
1 variant · 1 transcript
MDM4
1 variant · 1 transcript
MAPK1
1 variant · 1 transcript
POT1
1 variant · 1 transcript
HNF1A
1 variant · 1 transcript
CCND2
1 variant · 1 transcript
CFTR
1 variant · 1 transcript
RICTOR
1 variant · 1 transcript
PKD1
1 variant · 1 transcript
PSEN1
1 variant · 1 transcript
JAK3
1 variant · 1 transcript
JAK1
1 variant · 1 transcript
GLA
1 variant · 1 transcript
PIK3CB
1 variant · 1 transcript
KMT2B
1 variant · 1 transcript
RAD51
1 variant · 1 transcript
PDCD10
1 variant · 1 transcript
MAP2K4
1 variant · 1 transcript
CACNA1C
1 variant · 1 transcript
DMP1
1 variant · 1 transcript
RPS20
1 variant · 1 transcript
H3-3A
1 variant · 1 transcript
DNAH11
1 variant · 1 transcript
ERCC2
1 variant · 1 transcript
MTOR
1 variant · 1 transcript
EGFL7
1 variant · 1 transcript
MDC1
1 variant · 1 transcript
SOX17
1 variant · 1 transcript
MYOC
1 variant · 1 transcript
TAF1
1 variant · 1 transcript
SDHD
1 variant · 1 transcript
CALR
1 variant · 1 transcript
RAD21
1 variant · 1 transcript
COL4A2
1 variant · 1 transcript
GJB2
1 variant · 1 transcript

Recently interpreted

Newest first across every gene. Pick a gene above to narrow the list.

56 shown
Variant
Protein change
Classification
PTEN NM_000314.8:c.722T>C
NP_000305.3:p.(F241S)
VUS
View →
ATM NM_000051.4:c.3137T>C
NP_000042.3:p.(L1046P)
Likely Pathogenic
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ATM NM_000051.4:c.6059G>T
NP_000042.3:p.(G2020V)
VUS
View →
POLE NM_006231.4:c.5312C>T
NP_006222.2:p.(T1771M)
VUS
View →
POLE NM_006231.4:c.1718G>A
NP_006222.2:p.(R573Q)
VUS
View →
POLE NM_006231.4:c.1367C>T
NP_006222.2:p.(A456V)
VUS
View →
POLD1 NM_002691.4:c.203-13C>A
NP_002682.2:p.?
VUS
View →
MSH2 NM_000251.3:c.802dup
NP_000242.1:p.(S268Ffs*16)
VUS
View →
MSH2 NM_000251.3:c.793-11_794dup
NP_000242.1:p.?
VUS
View →
CDKN2A NM_000077.5:c.183G>A
NP_000068.1:p.(E61=)
VUS
View →
NRAS NM_002524.4:c.176C>A
NP_002515.1:p.(A59D)
VUS
View →
FLT3 NM_004119.2:c.1794_1795insACCATTGATTTCAGAGAATATGAA
NP_004110.2:p.(E598_Y599insTIDFREYE)
Likely Pathogenic
View →
FLT3 NM_004119.2:c.1732_1797dup
NP_004110.2:p.(M578_Y599dup)
Likely Pathogenic
View →
FLT3 NM_004119.2:c.1792_1793insCTACGTTGATTTCAGAGAATATGA
NP_004110.2:p.(E598delinsATLISENMK)
VUS
View →
PHF6 NM_001015877.1:c.1000G>T
NP_001015877.1:p.(E334*)
VUS
View →
RUNX1 NM_001754.4:c.529_551dup
NP_001745.2:p.(Q185Sfs*34)
Pathogenic
View →
PIK3CA NM_006218.4:c.2782C>T
NP_006209.2:p.(Q928*)
VUS
View →
ZRSR2 NM_005089.3:c.376C>T
NP_005080.1:p.(R126*)
Likely Pathogenic
View →
TP53 NM_000546.5:c.469G>T
NP_000537.3:p.(V157F)
Likely Pathogenic
View →
PALB2 NM_024675.4:c.2329G>A
NP_078951.2:p.(D777N)
VUS
View →
BARD1 NM_000465.4:c.2127A>G
NP_000456.2:p.(P709=)
VUS
View →
TP53 NM_000546.5:c.764T>A
NP_000537.3:p.(I255N)
Likely Pathogenic
View →
DDX41 NM_016222.2:c.1589G>A
NP_057306.2:p.(G530D)
VUS
View →
MSH2 NM_000251.3:c.942+3A>G
NP_000242.1:p.?
VUS
View →
MLH1 NM_000249.4:c.1990-23G>T
NP_000240.1:p.?
VUS
View →
SDHA NM_004168.4:c.840C>T
NP_004159.2:p.(I280=)
VUS
View →
EPCAM NM_002354.3:c.457A>G
NP_002345.2:p.(R153G)
VUS
View →
BRCA1 NM_007294.4:c.131G>A
NP_009225.1:p.(C44Y)
Likely Pathogenic
View →
ATM NM_000051.4:c.2207C>T
NP_000042.3:p.(A736V)
VUS
View →
MSH2 NM_000251.3:c.67T>C
NP_000242.1:p.(F23L)
Benign
View →
CHEK2 NM_007194.4:c.731A>G
NP_009125.1:p.(K244R)
VUS
View →
TSC2 NM_000548.5:c.2356-15T>A
NP_000539.2:p.?
VUS
View →
PTEN NM_000314.8:c.70G>A
NP_000305.3:p.(D24N)
VUS
View →
PTEN NM_000314.8:c.634+1G>C
NP_000305.3:p.?
Likely Pathogenic
View →
PTEN NM_000314.8:c.955_956dup
NP_000305.3:p.(T321*)
Likely Pathogenic
View →
PTEN NM_000314.8:c.256G>C
NP_000305.3:p.(A86P)
VUS
View →
BRCA1 NM_007294.4:c.1534C>T
NP_009225.1:p.(L512F)
Benign
View →
PIK3CA NM_006218.4:c.3203dup
NP_006209.2:p.(N1068Kfs*5)
View →
POLE NM_006231.4:c.6111C>T
NP_006222.2:p.(A2037=)
Likely Benign
View →
PTEN NM_000314.8:c.348del
NP_000305.3:p.(D116Efs*18)
VUS
View →
TP53 NM_000546.6:c.833C>A
NP_000537.3:p.(P278H)
Likely Pathogenic
View →
PTEN NM_000314.8:c.745G>A
NP_000305.3:p.(V249M)
VUS
View →
PTEN NM_000314.8:c.253+5G>A
NP_000305.3:p.?
Likely Pathogenic
View →
POLE NM_006231.4:c.889T>C
NP_006222.2:p.(S297P)
VUS
View →
POLE NM_006231.4:c.1687-18G>A
NP_006222.2:p.?
VUS
View →
POLE NM_006231.4:c.4006-15C>T
NP_006222.2:p.?
VUS
View →
PIK3CA NM_006218.4:c.412G>T
NP_006209.2:p.(D138Y)
VUS
View →
CTNNB1 NM_001904.4:c.452G>A
NP_001895.1:p.(R151H)
VUS
View →
DDX41 NM_016222.2:c.1480_1496dup
NP_057306.2:p.(A500Rfs*52)
Likely Pathogenic
View →
BRCA2 NM_000059.4:c.3111A>G
NP_000050.3:p.(Q1037=)
Likely Benign
View →
BRCA2 NM_000059.4:c.4071A>C
NP_000050.3:p.(L1357=)
Benign
View →
CHEK2 NM_007194.4:c.1375+2T>G
NP_009125.1:p.?
Likely Pathogenic
View →
BRCA2 NM_000059.4:c.341A>G
NP_000050.3:p.(H114R)
Likely Benign
View →
ATM NM_000051.4:c.8395_8404del
NP_000042.3:p.(F2799Kfs*4)
Likely Pathogenic
View →
PTEN NM_000314.8:c.1027-1G>C
NP_000305.3:p.?
Likely Pathogenic
View →
PALB2 NM_024675.4:c.721A>G
NP_078951.2:p.(N241D)
Benign
View →