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 18 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
BRCA2 NM_000059.3:c.6859A>T
NP_000050.2:p.(R2287*)
Likely Pathogenic
View →
PALB2 NM_024675.4:c.154G>A
NP_078951.2:p.(V52I)
VUS
View →
BRCA1 NM_007294.3:c.5407-10G>A
NP_009225.1:p.?
VUS
View →
BRCA2 NM_000059.4:c.7057G>C
NP_000050.3:p.(G2353R)
Benign
View →
MLH1 NM_000249.4:c.1515T>C
NP_000240.1:p.(S505=)
Likely Benign
View →
TP53 NM_000546.5:c.743G>T
NP_000537.3:p.(R248L)
Pathogenic
View →
MLH3 NM_001040108.2:c.3488G>A
NP_001035197.1:p.(G1163D)
Benign
View →
PALB2 NM_024675.3:c.2787_2788dup
NP_078951.2:p.(N930Ifs*6)
Pathogenic
View →
PTPN11 NM_001330437.1:c.1542G>C
NP_001317366.1:p.(Q514H)
Likely Pathogenic
View →
BRCA1 NM_007294.3:c.4159T>C
NP_009225.1:p.(S1387P)
Likely Benign
View →
BRCA2 NM_000059.3:c.9117G>A
NP_000050.2:p.(P3039=)
Pathogenic
View →
POLD1 NM_002691.4:c.2915C>T
NP_002682.2:p.(P972L)
VUS
View →
MLH1 NM_000249.4:c.1039-6dup
NP_000240.1:p.?
Benign
View →
PIK3CA NM_006218.2:c.2740G>A
NP_006209.2:p.(G914R)
VUS
View →
PALB2 NM_024675.3:c.104T>C
NP_078951.2:p.(L35P)
VUS
View →
PTPN11 NM_001330437.1:c.782T>A
NP_001317366.1:p.(L261H)
Likely Pathogenic
View →
BRCA2 NM_000059.3:c.2471T>C
NP_000050.2:p.(L824S)
Likely Benign
View →
BRAF NM_001354609.1:c.793G>C
NP_001341538.1:p.(G265R)
VUS
View →
KRAS NM_001369786.1:c.101C>T
NP_001356715.1:p.(P34L)
Likely Pathogenic
View →
KRAS NM_001369786.1:c.15A>T
NP_001356715.1:p.(K5N)
VUS
View →
TP53 NM_000546.5:c.1010G>C
NP_000537.3:p.(R337P)
Likely Pathogenic
View →
BRAF NM_001354609.1:c.1787G>T
NP_001341538.1:p.(G596V)
VUS
View →
BRCA1 NM_007294.3:c.4987-7A>G
NP_009225.1:p.?
Likely Pathogenic
View →
PALB2 NM_024675.3:c.2014G>C
NP_078951.2:p.(E672Q)
Benign
View →
RUNX1 NM_001001890.2:c.393T>C
NP_001001890.1:p.(F131=)
Likely Benign
View →
BRAF NM_001354609.1:c.730A>C
NP_001341538.1:p.(T244P)
VUS
View →
PALB2 NM_024675.3:c.3512del
NP_078951.2:p.(L1171Cfs*20)
Likely Pathogenic
View →
PIK3CA NM_006218.2:c.2176G>A
NP_006209.2:p.(E726K)
VUS
View →
BRCA1 NM_007294.3:c.5140G>T
NP_009225.1:p.(V1714F)
Likely Pathogenic
View →
BRIP1 NM_032043.3:c.1474-3T>C
NP_114432.2:p.?
VUS
View →
BRCA2 NM_000059.4:c.7673_7674del
NP_000050.3:p.(E2558Vfs*7)
Pathogenic
View →
POLD1 NM_002691.4:c.2041del
NP_002682.2:p.(L681Sfs*13)
Likely Pathogenic
View →
POLD1 NM_002691.4:c.2953C>T
NP_002682.2:p.(R985W)
VUS
View →
MSH6 NM_000179.3:c.2091T>C
NP_000170.1:p.(D697=)
Likely Benign
View →
MSH2 NM_000251.3:c.1147C>T
NP_000242.1:p.(R383*)
Pathogenic
View →
MSH2 NM_000251.3:c.1661+1G>A
NP_000242.1:p.?
Pathogenic
View →
AIP NM_003977.4:c.811C>T
NP_003968.3:p.(R271W)
VUS
View →
MSH6 NM_000179.3:c.4T>A
NP_000170.1:p.(S2T)
VUS
View →
CREB3L3 NM_032607.3:c.313G>A
NP_115996.1:p.(G105R)
Benign
View →
LPL NM_000237.3:c.1385T>C
NP_000228.1:p.(F462S)
VUS
View →
BRCA2 NM_000059.4:c.2353A>G
NP_000050.3:p.(I785V)
Likely Benign
View →
MLH1 NM_000249.4:c.290A>G
NP_000240.1:p.(Y97C)
Benign
View →
MSH6 NM_000179.3:c.3556+1G>C
NP_000170.1:p.?
VUS
View →
MSH3 NM_002439.5:c.2436-13G>T
NP_002430.3:p.?
VUS
View →
MSH6 NM_000179.3:c.199C>A
NP_000170.1:p.(P67T)
VUS
View →
CHEK2 NM_007194.4:c.-6-8T>G
NP_009125.1:p.?
VUS
View →
BRCA2 NM_000059.4:c.4516T>C
NP_000050.3:p.(F1506L)
VUS
View →
BARD1 NM_000465.4:c.764A>G
NP_000456.2:p.(N255S)
VUS
View →
SF3B1 NM_012433.2:c.1876A>G
NP_036565.2:p.(N626D)
VUS
View →
SF3B1 NM_012433.2:c.1873C>T
NP_036565.2:p.(R625C)
VUS
View →
SF3B1 NM_012433.2:c.1866G>T
NP_036565.2:p.(E622D)
VUS
View →
NF1 NM_000267.3:c.8089_8093delinsGTTTT
NP_000258.1:p.(F2697_S2698delinsVL)
VUS
View →
BCORL1 NM_021946.4:c.643_798dup
NP_068765.3:p.(H215_P266dup)
VUS
View →
SF3B1 NM_012433.2:c.1986C>A
NP_036565.2:p.(H662Q)
VUS
View →
CUX1 NM_001202544.1:c.1657_1716+4dup
NP_001189473.1:p.?
VUS
View →
DNMT3A NM_022552.4:c.856-59_1014+13dup
NP_072046.2:p.?
VUS
View →
PALB2 NM_024675.3:c.3113G>A
NP_078951.2:p.(W1038*)
Pathogenic
View →
PALB2 NM_024675.3:c.2027T>C
NP_078951.2:p.(I676T)
Benign
View →
BRAF NM_001354609.1:c.483G>C
NP_001341538.1:p.(L161=)
Likely Benign
View →
PALB2 NM_024675.3:c.532del
NP_078951.2:p.(E178Nfs*15)
Pathogenic
View →
BRAF NM_001354609.1:c.1595G>A
NP_001341538.1:p.(C532Y)
VUS
View →
NRAS NM_002524.4:c.31G>A
NP_002515.1:p.(A11T)
VUS
View →
BRCA2 NM_000059.3:c.8168A>C
NP_000050.2:p.(D2723A)
Likely Pathogenic
View →
KRAS NM_001369786.1:c.40G>A
NP_001356715.1:p.(V14I)
VUS
View →
RUNX1 NM_001001890.2:c.1094A>C
NP_001001890.1:p.(Q365P)
VUS
View →
NRAS NM_002524.4:c.71T>A
NP_002515.1:p.(I24N)
Likely Pathogenic
View →
BRCA1 NM_007294.4:c.4327C>G
NP_009225.1:p.(R1443G)
Benign
View →
BRCA2 NM_000059.3:c.9227G>T
NP_000050.2:p.(G3076V)
Likely Pathogenic
View →
BRCA1 NM_007294.3:c.5561T>C
NP_009225.1:p.(L1854P)
Likely Pathogenic
View →
PTPN11 NM_001330437.1:c.127C>T
NP_001317366.1:p.(L43F)
VUS
View →
PALB2 NM_024675.3:c.2831T>A
NP_078951.2:p.(I944N)
VUS
View →
BRCA1 NM_007294.3:c.5522G>A
NP_009225.1:p.(S1841N)
VUS
View →
KRAS NM_001369787.1:c.519T>C
NP_001356716.1:p.(D173=)
Benign
View →
TP53 NM_000546.5:c.581T>G
NP_000537.3:p.(L194R)
Likely Pathogenic
View →
TP53 NM_000546.5:c.221C>T
NP_000537.3:p.(A74V)
Likely Benign
View →
PALB2 NM_024675.3:c.1794G>A
NP_078951.2:p.(L598=)
Likely Benign
View →
RUNX1 NM_001001890.2:c.1332_1334delinsG
NP_001001890.1:p.(L445Gfs*127)
Likely Pathogenic
View →
BRCA2 NM_000059.3:c.7759C>T
NP_000050.2:p.(L2587F)
Likely Benign
View →
BRAF NM_001354609.1:c.1796C>G
NP_001341538.1:p.(T599R)
VUS
View →
PIK3CA NM_006218.2:c.2198A>G
NP_006209.2:p.(K733R)
Benign
View →
ATM NM_000051.3:c.4397_4398delinsCG
NP_000042.3:p.(R1466P)
VUS
View →
TP53 NM_000546.6:c.374C>T
NP_000537.3:p.(T125M)
VUS
View →
TP53 NM_000546.5:c.1136G>T
NP_000537.3:p.(R379L)
VUS
View →
TP53 NM_000546.5:c.1136G>A
NP_000537.3:p.(R379H)
Likely Benign
View →
PTPN11 NM_001330437.1:c.1662G>A
NP_001317366.1:p.(A554=)
Likely Benign
View →
NRAS NM_002524.4:c.368G>A
NP_002515.1:p.(R123K)
VUS
View →
KRAS NM_001369786.1:c.65A>G
NP_001356715.1:p.(Q22R)
VUS
View →
NRAS NM_002524.4:c.173C>T
NP_002515.1:p.(T58I)
VUS
View →
TP53 NM_000546.5:c.245C>T
NP_000537.3:p.(P82L)
Likely Benign
View →
RUNX1 NM_001001890.2:c.556C>G
NP_001001890.1:p.(Q186E)
VUS
View →
KRAS NM_001369787.1:c.451-14T>C
NP_001356716.1:p.?
VUS
View →
TP53 NM_000546.5:c.105G>T
NP_000537.3:p.(L35F)
Likely Benign
View →
BRCA2 NM_000059.3:c.9234C>T
NP_000050.2:p.(V3078=)
Likely Benign
View →
BRAF NM_001354609.1:c.770A>G
NP_001341538.1:p.(Q257R)
VUS
View →
PIK3CA NM_006218.2:c.2015+9A>G
NP_006209.2:p.?
Likely Benign
View →
NRAS NM_002524.4:c.112-8A>G
NP_002515.1:p.?
Likely Benign
View →
BRCA1 NM_007294.3:c.5089T>C
NP_009225.1:p.(C1697R)
Likely Pathogenic
View →
PTPN11 NM_001330437.1:c.209A>G
NP_001317366.1:p.(K70R)
VUS
View →
BRCA2 NM_000059.3:c.7977-1G>C
NP_000050.2:p.?
Pathogenic
View →
RUNX1 NM_001001890.2:c.1113C>T
NP_001001890.1:p.(A371=)
Likely Benign
View →