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 4 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.

100 shown
Variant
Protein change
Classification
MET NM_001127500.2:c.3082G>C
NP_001120972.1:p.(D1028H)
VUS
View →
NTRK1 NM_002529.3:c.655G>A
NP_002520.2:p.(G219R)
VUS
View →
RAD51B NM_133509.4:c.82C>G
NP_598193.2:p.(Q28E)
VUS
View →
PTEN NM_000314.8:c.197_203del
NP_000305.3:p.(K66Tfs*31)
Likely Pathogenic
View →
DICER1 NM_177438.3:c.735-23A>G
NP_803187.1:p.?
Likely Benign
View →
MSH6 NM_000179.3:c.4002-16_4002-10del
NP_000170.1:p.?
VUS
View →
MLH1 NM_000249.4:c.1732-2A>G
NP_000240.1:p.?
Pathogenic
View →
FGFR3 NM_000142.4:c.1959C>T
NP_000133.1:p.(N653=)
VUS
View →
BRCA1 NM_007294.4:c.3260G>C
NP_009225.1:p.(G1087A)
VUS
View →
STK11 NM_000455.4:c.369G>A
NP_000446.1:p.(Q123=)
Benign
View →
HRAS NM_005343.4:c.7G>A
NP_005334.1:p.(E3K)
VUS
View →
CDK4 NM_000075.4:c.122A>G
NP_000066.1:p.(N41S)
VUS
View →
TSC2 NM_000548.4:c.5335del
NP_000539.2:p.(Q1779Rfs*47)
VUS
View →
FLT3 NM_004119.2:c.2515G>A
NP_004110.2:p.(D839N)
VUS
View →
CCND1 NM_053056.3:c.844G>A
NP_444284.1:p.(D282N)
VUS
View →
MYC NM_002467.6:c.221C>G
NP_002458.2:p.(P74R)
VUS
View →
NF2 NM_000268.3:c.778G>T
NP_000259.1:p.(E260*)
VUS
View →
KEAP1 NM_012289.4:c.1639G>A
NP_036421.2:p.(V547I)
VUS
View →
PIK3R1 NM_181523.2:c.1350_1374del
NP_852664.1:p.(H450Qfs*22)
Likely Pathogenic
View →
PIK3CA NM_006218.3:c.277C>T
NP_006209.2:p.(R93W)
VUS
View →
MYCN NM_005378.5:c.868A>G
NP_005369.2:p.(N290D)
VUS
View →
MSH6 NM_000179.2:c.3926C>A
NP_000170.1:p.(P1309Q)
VUS
View →
ATM NM_000051.3:c.1348G>T
NP_000042.3:p.(E450*)
Pathogenic
View →
FGFR2 NM_000141.4:c.2383G>A
NP_000132.3:p.(D795N)
VUS
View →
MSH6 NM_000179.2:c.2975A>G
NP_000170.1:p.(E992G)
VUS
View →
CDK4 NM_000075.3:c.803G>A
NP_000066.1:p.(G268E)
VUS
View →
PTCH1 NM_000264.5:c.2215_2216delinsTT
NP_000255.2:p.(H739F)
VUS
View →
ARID1A NM_006015.5:c.2297A>T
NP_006006.3:p.(Q766L)
VUS
View →
NOTCH3 NM_000435.2:c.3278G>T
NP_000426.2:p.(C1093F)
Likely Pathogenic
View →
PTEN NM_000314.6:c.95T>G
NP_000305.3:p.(I32S)
VUS
View →
DICER1 NM_177438.2:c.2536A>G
NP_803187.1:p.(I846V)
VUS
View →
MYCN NM_005378.5:c.368G>T
NP_005369.2:p.(R123L)
VUS
View →
TERT NM_198253.2:c.1812A>G
NP_937983.2:p.(A604=)
VUS
View →
PPM1D NM_003620.3:c.1570del
NP_003611.1:p.(Q524Kfs*15)
VUS
View →
RAD21 NM_006265.2:c.165A>G
NP_006256.1:p.(T55=)
Likely Benign
View →
PRPF8 NM_006445.3:c.3081A>T
NP_006436.3:p.(S1027=)
VUS
View →
TET2 NM_001127208.2:c.2193A>G
NP_001120680.1:p.(Q731=)
VUS
View →
SETBP1 NM_015559.2:c.575A>G
NP_056374.2:p.(H192R)
VUS
View →
PPM1D NM_003620.3:c.1260+4T>C
NP_003611.1:p.?
VUS
View →
KMT2A NM_005933.3:c.10244C>T
NP_005924.2:p.(P3415L)
VUS
View →
IDH2 NM_002168.2:c.374-10G>A
NP_002159.2:p.?
VUS
View →
BCORL1 NM_021946.4:c.1953C>T
NP_068765.3:p.(H651=)
VUS
View →
PHF6 NM_001015877.1:c.859G>C
NP_001015877.1:p.(G287R)
VUS
View →
KRAS NM_033360.2:c.57G>T
NP_203524.1:p.(L19F)
VUS
View →
TET2 NM_001127208.2:c.2119G>A
NP_001120680.1:p.(A707T)
VUS
View →
NF2 NM_000268.3:c.958C>T
NP_000259.1:p.(Q320*)
VUS
View →
CDKN2A NM_001195132.1:c.44_46dup
NP_001182061.1:p.(W15_L16insR)
VUS
View →
MET NM_001127500.3:c.1063G>A
NP_001120972.1:p.(E355K)
VUS
View →
RET NM_020975.5:c.2486G>A
NP_066124.1:p.(S829N)
VUS
View →
CCND1 NM_053056.3:c.839_841del
NP_444284.1:p.(E280del)
Likely Benign
View →
RAD51B NM_133509.4:c.171_173dup
NP_598193.2:p.(S57dup)
Likely Benign
View →
CREBBP NM_004380.2:c.7299C>A
NP_004371.2:p.(D2433E)
VUS
View →
CALR NM_004343.3:c.1066C>G
NP_004334.1:p.(Q356E)
VUS
View →
CALR NM_004343.3:c.1066C>G
NP_004334.1:p.(Q356E)
View →
GALNT12 NM_024642.5:c.460C>T
NP_078918.3:p.(R154W)
VUS
View →
BCOR NM_017745.5:c.2265C>A
NP_060215.4:p.(Y755*)
Likely Pathogenic
View →
POLD1 NM_002691.4:c.2959del
NP_002682.2:p.(D987Tfs*58)
Likely Pathogenic
View →
ATM NM_000051.4:c.3332T>C
NP_000042.3:p.(L1111P)
VUS
View →
MSH6 NM_000179.3:c.2731C>T
NP_000170.1:p.(R911*)
Pathogenic
View →
ATM NM_000051.4:c.3332T>C
NP_000042.3:p.(L1111P)
VUS
View →
PRPF8 NM_006445.3:c.2013A>G
NP_006436.3:p.(T671=)
VUS
View →
BCOR NM_017745.5:c.3870_3871insC
NP_060215.4:p.(K1291Qfs*84)
Likely Pathogenic
View →
STAG2 NM_001042749.1:c.2431G>T
NP_001036214.1:p.(E811*)
VUS
View →
RUNX1 NM_001754.4:c.707dup
NP_001745.2:p.(M236Ifs*25)
Pathogenic
View →
RUNX1 NM_001754.4:c.560C>T
NP_001745.2:p.(A187V)
VUS
View →
NF1 NM_001042492.2:c.2544G>A
NP_001035957.1:p.(G848=)
Benign
View →
NF1 NM_001042492.2:c.2022C>T
NP_001035957.1:p.(S674=)
Benign
View →
CUX1 NM_001202543.1:c.2598_2606dup
NP_001189472.1:p.(S868_G870dup)
Benign
View →
KMT2A NM_005933.3:c.2040G>T
NP_005924.2:p.(S680=)
VUS
View →
DDX41 NM_016222.2:c.1479C>T
NP_057306.2:p.(S493=)
Likely Benign
View →
TERT NM_198253.2:c.2283C>T
NP_937983.2:p.(S761=)
VUS
View →
ATM NM_000051.4:c.3332T>C
NP_000042.3:p.(L1111P)
VUS
View →
ATM NM_000051.4:c.3332T>C
NP_000042.3:p.(L1111P)
VUS
View →
MSH2 NM_000251.3:c.2005+1G>A
NP_000242.1:p.?
Likely Pathogenic
View →
MLH1 NM_000249.4:c.1039-6dup
NP_000240.1:p.?
Benign
View →
MLH1 NM_000249.4:c.1039-6dup
NP_000240.1:p.?
VUS
View →
MSH2 NM_000251.3:c.1255C>T
NP_000242.1:p.(Q419*)
Pathogenic
View →
MSH6 NM_000179.3:c.1403G>A
NP_000170.1:p.(R468H)
Likely Benign
View →
MLH1 NM_000249.4:c.1558+4C>T
NP_000240.1:p.?
VUS
View →
MLH1 NM_000249.4:c.1039-6dup
NP_000240.1:p.?
VUS
View →
MET NM_001127500.2:c.737C>T
NP_001120972.1:p.(P246L)
VUS
View →
MSH3 NM_002439.5:c.2041C>T
NP_002430.3:p.(P681S)
VUS
View →
RAD51C NM_058216.3:c.187A>T
NP_478123.1:p.(I63F)
VUS
View →
POLE NM_006231.4:c.286-8C>G
NP_006222.2:p.?
VUS
View →
GALNT12 NM_024642.5:c.123T>G
NP_078918.3:p.(R41=)
VUS
View →
BAP1 NM_004656.4:c.126T>C
NP_004647.1:p.(P42=)
VUS
View →
POLE NM_006231.4:c.331-30G>A
NP_006222.2:p.?
VUS
View →
POLE NM_006231.4:c.3332G>A
NP_006222.2:p.(R1111Q)
VUS
View →
MUTYH NM_001128425.2:c.1465G>A
NP_001121897.1:p.(A489T)
VUS
View →
GBA1 NM_000157.4:c.1093G>A
NP_000148.2:p.(E365K)
Benign
View →
IDH2 NM_002168.3:c.413C>A
NP_002159.2:p.(T138N)
VUS
View →
IDH2 NM_002168.3:c.413C>A
NP_002159.2:p.(T138N)
VUS
View →
IDH2 NM_002168.3:c.413C>A
NP_002159.2:p.(T138N)
VUS
View →
ERBB2 NM_004448.3:c.2584A>G
NP_004439.2:p.(T862A)
Likely Pathogenic
View →
NF2 NM_000268.3:c.1249A>T
NP_000259.1:p.(I417F)
VUS
View →
FOXL2 NM_023067.4:c.386C>T
NP_075555.1:p.(T129M)
VUS
View →
MLH3 NM_001040108.2:c.3455G>A
NP_001035197.1:p.(R1152H)
VUS
View →
BRCA2 NM_000059.4:c.4183G>T
NP_000050.3:p.(A1395S)
Likely Benign
View →
TSC1 NM_000368.5:c.2865C>T
NP_000359.1:p.(T955=)
Benign
View →
FLCN NM_144997.7:c.1177-5_1177-3del
NP_659434.2:p.?
Pathogenic
View →