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 17 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
TET2 NM_001127208.2:c.2926C>T
NP_001120680.1:p.(Q976*)
Likely Pathogenic
View →
BRCA1 NM_007294.4:c.4530G>A
NP_009225.1:p.(M1510I)
VUS
View →
BRCA1 NM_007294.4:c.4065_4068del
NP_009225.1:p.(N1355Kfs*10)
Pathogenic
View →
CTNNB1 NM_001904.4:c.1648C>T
NP_001895.1:p.(R550C)
VUS
View →
PTEN NM_000314.8:c.890_899del
NP_000305.3:p.(D297Afs*7)
Likely Pathogenic
View →
BRCA1 NM_007294.4:c.2063del
NP_009225.1:p.(T688Kfs*13)
Pathogenic
View →
TET2 NM_001127208.2:c.3784C>T
NP_001120680.1:p.(R1262W)
VUS
View →
ABL1 NM_005157.4:c.908-16G>A
NP_005148.2:p.?
VUS
View →
GATA2 NM_001145661.1:c.856G>C
NP_001139133.1:p.(A286P)
VUS
View →
TP53 NM_000546.5:c.74+11C>T
NP_000537.3:p.?
VUS
View →
BCORL1 NM_021946.4:c.4464C>T
NP_068765.3:p.(D1488=)
VUS
View →
DNMT3A NM_022552.4:c.977G>T
NP_072046.2:p.(R326L)
View →
BCORL1 NM_021946.4:c.1111A>C
NP_068765.3:p.(T371P)
VUS
View →
PTEN NM_000314.8:c.416T>G
NP_000305.3:p.(L139*)
Likely Pathogenic
View →
PTEN NM_000314.8:c.956del
NP_000305.3:p.(T319Ifs*2)
Likely Pathogenic
View →
PIK3CA NM_006218.4:c.1930T>C
NP_006209.2:p.(Y644H)
VUS
View →
PIK3CA NM_006218.4:c.1132T>C
NP_006209.2:p.(C378R)
VUS
View →
PTPN11 NM_001330437.1:c.53A>G
NP_001317366.1:p.(N18S)
Benign
View →
BRAF NM_001354609.1:c.1024A>G
NP_001341538.1:p.(I342V)
VUS
View →
TP53 NM_000546.5:c.344A>G
NP_000537.3:p.(H115R)
Likely Benign
View →
BRCA1 NM_007294.3:c.2155A>G
NP_009225.1:p.(K719E)
Benign
View →
NRAS NM_002524.4:c.159G>A
NP_002515.1:p.(L53=)
Benign
View →
PALB2 NM_024675.3:c.2734T>G
NP_078951.2:p.(W912G)
VUS
View →
PALB2 NM_024675.3:c.514_517del
NP_078951.2:p.(S172Gfs*4)
Pathogenic
View →
TERT NM_198253.2:c.835G>A
NP_937983.2:p.(A279T)
Benign
View →
DNMT3A NM_022552.4:c.1312dup
NP_072046.2:p.(D438Gfs*7)
Likely Pathogenic
View →
DDX41 NM_016222.2:c.521A>G
NP_057306.2:p.(D174G)
VUS
View →
NF1 NM_000267.3:c.369C>G
NP_000258.1:p.(T123=)
Likely Benign
View →
CUX1 NM_001202543.1:c.1227G>A
NP_001189472.1:p.(A409=)
VUS
View →
BCORL1 NM_021946.4:c.2361A>T
NP_068765.3:p.(P787=)
VUS
View →
SETBP1 NM_015559.2:c.3023G>A
NP_056374.2:p.(R1008H)
VUS
View →
ATM NM_000051.4:c.8418+5_8418+8del
NP_000042.3:p.?
VUS
View →
ATM NM_000051.4:c.8052_8055del
NP_000042.3:p.(Q2684Hfs*8)
Pathogenic
View →
TP53 NM_000546.6:c.587G>T
NP_000537.3:p.(R196L)
VUS
View →
BRCA2 NM_000059.4:c.2259T>C
NP_000050.3:p.(F753=)
VUS
View →
PTEN NM_000314.8:c.-307C>G
NP_000305.3:p.?
Likely Benign
View →
MET NM_001127500.3:c.110T>C
NP_001120972.1:p.(V37A)
Likely Benign
View →
BRCA2 NM_000059.3:c.8164A>G
NP_000050.2:p.(T2722A)
Likely Pathogenic
View →
PTPN11 NM_001330437.1:c.526-8C>A
NP_001317366.1:p.?
Benign
View →
BRAF NM_001354609.1:c.1383A>G
NP_001341538.1:p.(Q461=)
Benign
View →
TP53 NM_000546.5:c.840A>T
NP_000537.3:p.(R280S)
Likely Pathogenic
View →
PALB2 NM_024675.3:c.7G>T
NP_078951.2:p.(E3*)
Pathogenic
View →
BRAF NM_001354609.1:c.722C>A
NP_001341538.1:p.(T241K)
Likely Pathogenic
View →
BRCA2 NM_000059.3:c.7685T>G
NP_000050.2:p.(F2562C)
Likely Pathogenic
View →
TP53 NM_000546.5:c.1009C>T
NP_000537.3:p.(R337C)
Likely Pathogenic
View →
BRAF NM_001354609.1:c.741T>G
NP_001341538.1:p.(F247L)
Likely Pathogenic
View →
PIK3CA NM_006218.2:c.2040T>C
NP_006209.2:p.(V680=)
VUS
View →
ATM NM_000051.4:c.4300A>T
NP_000042.3:p.(K1434*)
Pathogenic
View →
TP53 NM_000546.6:c.1010G>T
NP_000537.3:p.(R337L)
VUS
View →
PIK3CA NM_006218.4:c.371C>A
NP_006209.2:p.(P124Q)
VUS
View →
PIK3CA NM_006218.4:c.335T>C
NP_006209.2:p.(I112T)
VUS
View →
PTEN NM_000314.8:c.570_571delinsT
NP_000305.3:p.(V191Wfs*8)
Likely Pathogenic
View →
TP53 NM_000546.6:c.1123C>A
NP_000537.3:p.(Q375K)
Likely Benign
View →
BRCA2 NM_000059.3:c.8375T>C
NP_000050.2:p.(L2792P)
Likely Pathogenic
View →
CHEK2 NM_007194.4:c.906A>C
NP_009125.1:p.(E302D)
VUS
View →
POLE NM_006231.4:c.2083T>C
NP_006222.2:p.(F695L)
VUS
View →
SPG11 NM_025137.4:c.6062G>A
NP_079413.3:p.(R2021Q)
VUS
View →
PIK3CA NM_006218.2:c.3140A>G
NP_006209.2:p.(H1047R)
Likely Pathogenic
View →
VPS13C NM_020821.3:c.5566G>T
NP_065872.1:p.(G1856W)
VUS
View →
RUNX1 NM_001001890.2:c.1132C>G
NP_001001890.1:p.(L378V)
VUS
View →
PIK3CA NM_006218.2:c.1631C>A
NP_006209.2:p.(T544N)
VUS
View →
BRCA1 NM_007294.3:c.4211T>G
NP_009225.1:p.(L1404R)
VUS
View →
PTPN11 NM_001330437.1:c.1221A>G
NP_001317366.1:p.(G407=)
Benign
View →
ATM NM_000051.3:c.67C>T
NP_000042.3:p.(R23*)
Pathogenic
View →
KRAS NM_004985.4:c.24A>G
NP_004976.2:p.(V8=)
Benign
View →
PALB2 NM_024675.3:c.135G>A
NP_078951.2:p.(K45=)
Likely Benign
View →
PIK3CA NM_006218.2:c.93A>G
NP_006209.2:p.(I31M)
VUS
View →
BRCA2 NM_000059.3:c.794-2A>G
NP_000050.2:p.?
VUS
View →
BRAF NM_001354609.1:c.2127+3A>G
NP_001341538.1:p.?
Benign
View →
ATM NM_000051.3:c.5515C>T
NP_000042.3:p.(Q1839*)
Pathogenic
View →
BRCA2 NM_000059.3:c.7970A>C
NP_000050.2:p.(K2657T)
VUS
View →
PALB2 NM_024675.3:c.3249G>C
NP_078951.2:p.(E1083D)
Likely Benign
View →
PALB2 NM_024675.3:c.3054G>C
NP_078951.2:p.(E1018D)
Benign
View →
BRAF NM_001354609.1:c.708C>T
NP_001341538.1:p.(N236=)
Benign
View →
PALB2 NM_024675.3:c.3362del
NP_078951.2:p.(G1121Vfs*3)
Likely Pathogenic
View →
BRIP1 NM_032043.3:c.1171A>G
NP_114432.2:p.(I391V)
VUS
View →
BRCA1 NM_007294.3:c.101C>T
NP_009225.1:p.(P34L)
Likely Pathogenic
View →
TP53 NM_000546.5:c.761T>C
NP_000537.3:p.(I254T)
Likely Pathogenic
View →
BRCA2 NM_000059.3:c.8059G>T
NP_000050.2:p.(V2687F)
VUS
View →
BRAF NM_001354609.1:c.622A>G
NP_001341538.1:p.(I208V)
VUS
View →
RUNX1 NM_001001890.2:c.319_323del
NP_001001890.1:p.(A107Qfs*2)
Pathogenic
View →
TP53 NM_000546.5:c.370T>A
NP_000537.3:p.(C124S)
Likely Benign
View →
BRCA1 NM_007294.3:c.301+7G>A
NP_009225.1:p.?
Likely Benign
View →
PTEN NM_000314.8:c.263A>G
NP_000305.3:p.(Y88C)
VUS
View →
PTEN NM_000314.8:c.101_126del
NP_000305.3:p.(A34Gfs*9)
Likely Pathogenic
View →
PTEN NM_000314.8:c.304A>T
NP_000305.3:p.(K102*)
Likely Pathogenic
View →
PIK3CA NM_006218.4:c.2171A>G
NP_006209.2:p.(K724R)
VUS
View →
POLE NM_006231.4:c.4952+9A>G
NP_006222.2:p.?
VUS
View →
POLE NM_006231.4:c.745C>A
NP_006222.2:p.(R249=)
VUS
View →
PIK3CA NM_006218.2:c.1173A>G
NP_006209.2:p.(I391M)
Benign
View →
TP53 NM_000546.5:c.1031T>C
NP_000537.3:p.(L344P)
Likely Pathogenic
View →
PALB2 NM_024675.3:c.109C>A
NP_078951.2:p.(R37S)
Likely Benign
View →
KRAS NM_001369786.1:c.194G>T
NP_001356715.1:p.(S65I)
VUS
View →
PIK3CA NM_006218.2:c.1624G>A
NP_006209.2:p.(E542K)
VUS
View →
KRAS NM_004985.4:c.173C>T
NP_004976.2:p.(T58I)
VUS
View →
PALB2 NM_024675.3:c.49-2A>T
NP_078951.2:p.?
VUS
View →
RUNX1 NM_001001890.2:c.1036T>G
NP_001001890.1:p.(S346A)
VUS
View →
PALB2 NM_024675.3:c.682C>T
NP_078951.2:p.(Q228*)
Pathogenic
View →
PALB2 NM_024675.3:c.2524_2535delinsTCAGA
NP_078951.2:p.(A842Sfs*7)
Pathogenic
View →
BRCA2 NM_000059.3:c.8362T>C
NP_000050.2:p.(W2788R)
Likely Pathogenic
View →