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 5 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
MYC NM_002467.5:c.212_214dup
NP_002458.2:p.(L71dup)
VUS
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FANCD2 NM_033084.4:c.3560+2T>A
NP_149075.2:p.?
VUS
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ATM NM_000051.4:c.5574G>A
NP_000042.3:p.(W1858*)
Pathogenic
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ATM NM_000051.4:c.4231del
NP_000042.3:p.(S1411Afs*40)
Pathogenic
View →
ROS1 NM_002944.2:c.6068A>T
NP_002935.2:p.(Y2023F)
VUS
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ROS1 NM_002944.2:c.6068A>T
NP_002935.2:p.(Y2023F)
VUS
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PTEN NM_000314.8:c.888T>A
NP_000305.3:p.(C296*)
Likely Pathogenic
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POLE NM_006231.4:c.2284C>T
NP_006222.2:p.(R762W)
VUS
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POLE NM_006231.4:c.2964G>T
NP_006222.2:p.(S988=)
VUS
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PTEN NM_000314.8:c.209T>G
NP_000305.3:p.(L70R)
VUS
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PTEN NM_000314.8:c.46T>G
NP_000305.3:p.(Y16D)
VUS
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POLE NM_006231.4:c.4501G>A
NP_006222.2:p.(G1501R)
VUS
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RAD51B NM_133509.4:c.585_587dup
NP_598193.2:p.(E198dup)
VUS
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TSC2 NM_000548.4:c.3796_3797del
NP_000539.2:p.(L1266Afs*55)
Likely Pathogenic
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RAD54L NM_003579.4:c.1093_1169+15dup
NP_003570.2:p.?
VUS
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IDH2 NM_002168.3:c.520G>A
NP_002159.2:p.(A174T)
VUS
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KRAS NM_033360.3:c.250A>G
NP_203524.1:p.(I84V)
VUS
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IDH2 NM_002168.3:c.413C>A
NP_002159.2:p.(T138N)
VUS
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FGF3 NM_005247.2:c.310C>T
NP_005238.1:p.(R104*)
Likely Pathogenic
View →
IDH2 NM_002168.3:c.413C>A
NP_002159.2:p.(T138N)
VUS
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IDH2 NM_002168.3:c.413C>A
NP_002159.2:p.(T138N)
VUS
View →
FGFR2 NM_000141.4:c.346G>A
NP_000132.3:p.(E116K)
VUS
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RET NM_020975.5:c.2895G>T
NP_066124.1:p.(K965N)
VUS
View →
NF2 NM_000268.3:c.863C>G
NP_000259.1:p.(S288*)
Likely Pathogenic
View →
PIK3CA NM_006218.3:c.946C>T
NP_006209.2:p.(P316S)
VUS
View →
MLH1 NM_000249.3:c.676C>T
NP_000240.1:p.(R226*)
Pathogenic
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KEAP1 NM_012289.4:c.340G>A
NP_036421.2:p.(G114R)
VUS
View →
FGFR2 NM_000141.4:c.1516G>T
NP_000132.3:p.(D506Y)
VUS
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RAD50 NM_005732.3:c.1110A>C
NP_005723.2:p.(L370F)
VUS
View →
MYCL NM_001033082.2:c.961C>G
NP_001028254.2:p.(R321G)
VUS
View →
NF2 NM_000268.3:c.363+1G>C
NP_000259.1:p.?
VUS
View →
FGFR3 NM_000142.4:c.1172C>T
NP_000133.1:p.(A391V)
Likely Pathogenic
View →
RET NM_020975.6:c.1783G>A
NP_066124.1:p.(E595K)
VUS
View →
MBD4 NM_003925.3:c.1231_1234del
NP_003916.1:p.(R411Gfs*79)
VUS
View →
ATRX NM_000489.5:c.4699+2T>C
NP_000480.3:p.?
Likely Pathogenic
View →
IDH2 NM_002168.3:c.413C>A
NP_002159.2:p.(T138N)
VUS
View →
ATM NM_000051.4:c.3332T>C
NP_000042.3:p.(L1111P)
VUS
View →
ATM NM_000051.4:c.838A>G
NP_000042.3:p.(I280V)
VUS
View →
MSH6 NM_000179.3:c.4001+32_4001+35dup
NP_000170.1:p.?
VUS
View →
MSH6 NM_000179.3:c.4001+32_4001+35dup
NP_000170.1:p.?
VUS
View →
MSH6 NM_000179.3:c.4001+32_4001+35dup
NP_000170.1:p.?
VUS
View →
MSH6 NM_000179.3:c.4001+32_4001+35dup
NP_000170.1:p.?
VUS
View →
ATM NM_000051.4:c.838A>G
NP_000042.3:p.(I280V)
VUS
View →
CTNNB1 NM_001904.4:c.420T>C
NP_001895.1:p.(I140=)
Benign
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ATM NM_000051.4:c.273dup
NP_000042.3:p.(K92Efs*8)
Pathogenic
View →
ATM NM_000051.4:c.838A>G
NP_000042.3:p.(I280V)
VUS
View →
ATM NM_000051.4:c.3080A>G
NP_000042.3:p.(H1027R)
VUS
View →
CDC73 NM_024529.5:c.424-28A>G
NP_078805.3:p.?
Benign
View →
ATM NM_000051.4:c.3332T>C
NP_000042.3:p.(L1111P)
VUS
View →
ATM NM_000051.4:c.3080A>G
NP_000042.3:p.(H1027R)
VUS
View →
ATM NM_000051.4:c.3080A>G
NP_000042.3:p.(H1027R)
VUS
View →
PRKN NM_004562.2:c.758G>A
NP_004553.2:p.(C253Y)
Likely Pathogenic
View →
ATM NM_000051.4:c.3080A>G
NP_000042.3:p.(H1027R)
Likely Benign
View →
PRKN NM_004562.2:c.758G>A
NP_004553.2:p.(C253Y)
Likely Pathogenic
View →
POLD1 NM_002691.4:c.3068-6C>G
NP_002682.2:p.?
VUS
View →
APC NM_001127510.3:c.295C>T
NP_001120982.1:p.(R99W)
Likely Benign
View →
AXIN2 NM_004655.4:c.1908-23C>T
NP_004646.3:p.?
VUS
View →
STK11 NM_000455.5:c.920+12C>T
NP_000446.1:p.?
VUS
View →
POLE NM_006231.4:c.5811+16T>C
NP_006222.2:p.?
Benign
View →
POLE NM_006231.4:c.6766G>A
NP_006222.2:p.(G2256R)
Benign
View →
MSH6 NM_000179.3:c.4001+32_4001+35dup
NP_000170.1:p.?
Likely Benign
View →
BMPR1A NM_004329.3:c.1299C>T
NP_004320.2:p.(F433=)
Likely Benign
View →
ATM NM_000051.4:c.103C>A
NP_000042.3:p.(R35=)
Likely Benign
View →
EPCAM NM_002354.3:c.675G>A
NP_002345.2:p.(L225=)
Likely Benign
View →
MBD4 NM_001276270.2:c.106A>G
NP_001263199.1:p.(K36E)
VUS
View →
CHEK2 NM_007194.4:c.1312G>T
NP_009125.1:p.(D438Y)
VUS
View →
BRCA2 NM_000059.4:c.8039A>G
NP_000050.3:p.(D2680G)
Likely Benign
View →
MBD4 NM_001276270.2:c.1382A>G
NP_001263199.1:p.(N461S)
VUS
View →
BARD1 NM_000465.4:c.1835A>T
NP_000456.2:p.(D612V)
Likely Benign
View →
BRCA1 NM_007294.4:c.19C>T
NP_009225.1:p.(R7C)
VUS
View →
PRKN NM_004562.2:c.758G>A
NP_004553.2:p.(C253Y)
Likely Pathogenic
View →
PRKN NM_004562.2:c.758G>A
NP_004553.2:p.(C253Y)
Likely Pathogenic
View →
PTEN NM_000314.8:c.387_388del
NP_000305.3:p.(R130Nfs*49)
Pathogenic
View →
PTEN NM_000314.8:c.387_388del
NP_000305.3:p.(R130Nfs*49)
Likely Pathogenic
View →
PTEN NM_000314.8:c.387_388del
NP_000305.3:p.(R130Nfs*49)
Likely Pathogenic
View →
PTEN NM_000314.8:c.387_388del
NP_000305.3:p.(R130Nfs*49)
Pathogenic
View →
POLE NM_006231.4:c.3459+12G>T
NP_006222.2:p.?
VUS
View →
PMS2 NM_000535.7:c.2515C>T
NP_000526.2:p.(H839Y)
VUS
View →
POLE NM_006231.4:c.6531+19G>T
NP_006222.2:p.?
VUS
View →
PIK3CA NM_006218.4:c.1911+19G>T
NP_006209.2:p.?
VUS
View →
POLE NM_006231.4:c.1360-6C>T
NP_006222.2:p.?
Likely Benign
View →
MSH6 NM_000179.3:c.1822A>G
NP_000170.1:p.(I608V)
VUS
View →
TP53 NM_000546.6:c.1154del
NP_000537.3:p.(F385Sfs*37)
VUS
View →
CDH1 NM_004360.5:c.1266A>G
NP_004351.1:p.(Q422=)
VUS
View →
ATM NM_000051.4:c.7835G>A
NP_000042.3:p.(R2612K)
VUS
View →
POLD1 NM_002691.4:c.187G>A
NP_002682.2:p.(E63K)
VUS
View →
AXIN2 NM_004655.4:c.432T>C
NP_004646.3:p.(I144=)
Benign
View →
POLE NM_006231.4:c.2561+21G>A
NP_006222.2:p.?
VUS
View →
ATM NM_000051.4:c.8787-26C>T
NP_000042.3:p.?
Likely Benign
View →
SDHD NM_003002.4:c.110A>T
NP_002993.1:p.(D37V)
VUS
View →
BRIP1 NM_032043.3:c.254C>T
NP_114432.2:p.(S85L)
VUS
View →
MBD4 NM_001276270.2:c.1024T>C
NP_001263199.1:p.(S342P)
Benign
View →
CDH1 NM_004360.5:c.48+6_48+7delinsTT
NP_004351.1:p.?
VUS
View →
RAD51C NM_058216.3:c.141C>T
NP_478123.1:p.(S47=)
Likely Benign
View →
BARD1 NM_000465.4:c.1868G>A
NP_000456.2:p.(G623E)
VUS
View →
MBD4 NM_001276270.2:c.335+27T>C
NP_001263199.1:p.?
Benign
View →
APC NM_001127510.3:c.608A>G
NP_001120982.1:p.(Q203R)
VUS
View →
BARD1 NM_000465.4:c.568G>A
NP_000456.2:p.(D190N)
VUS
View →
MBD4 NM_001276270.2:c.817G>A
NP_001263199.1:p.(A273T)
Benign
View →
MBD4 NM_001276270.2:c.1395C>T
NP_001263199.1:p.(G465=)
Benign
View →