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 13 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
HNF1A NM_000545.6:c.341G>A
NP_000536.5:p.(R114H)
Likely Benign
View →
MBD4 NM_003925.3:c.89C>T
NP_003916.1:p.(P30L)
VUS
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BAP1 NM_004656.4:c.37+28G>A
NP_004647.1:p.?
Likely Benign
View →
POLE NM_006231.4:c.6748-18G>A
NP_006222.2:p.?
VUS
View →
RAD51D NM_002878.3:c.641C>T
NP_002869.3:p.(P214L)
VUS
View →
POLE NM_006231.4:c.6748-18G>A
NP_006222.2:p.?
VUS
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POT1 NM_015450.3:c.1884A>C
NP_056265.2:p.(T628=)
Benign
View →
PTCH1 NM_000264.5:c.3141T>G
NP_000255.2:p.(L1047=)
Benign
View →
ERBB2 NM_004448.3:c.2506C>A
NP_004439.2:p.(L836M)
VUS
View →
MLH1 NM_000249.3:c.1655C>T
NP_000240.1:p.(T552I)
VUS
View →
SLC2A2 NM_000340.2:c.1094G>A
NP_000331.1:p.(R365Q)
VUS
View →
SLC2A2 NM_000340.2:c.115_117del
NP_000331.1:p.(I39del)
VUS
View →
BAP1 NM_004656.4:c.376_382del
NP_004647.1:p.(S126Dfs*59)
VUS
View →
SMO NM_005631.4:c.1886G>C
NP_005622.1:p.(R629T)
VUS
View →
RAD50 NM_005732.3:c.2033_2034dup
NP_005723.2:p.(C680Hfs*41)
Likely Pathogenic
View →
RNF43 NM_017763.5:c.252+2C>G
NP_060233.3:p.?
Likely Pathogenic
View →
SMO NM_005631.4:c.1604G>T
NP_005622.1:p.(W535L)
Likely Pathogenic
View →
NTRK3 NM_001012338.2:c.428C>T
NP_001012338.1:p.(S143L)
VUS
View →
BAP1 NM_004656.4:c.37+28G>A
NP_004647.1:p.?
Likely Benign
View →
MSH6 NM_000179.3:c.1054G>A
NP_000170.1:p.(V352I)
VUS
View →
ATM NM_000051.4:c.9139C>T
NP_000042.3:p.(R3047*)
VUS
View →
ATM NM_000051.4:c.7486G>C
NP_000042.3:p.(G2496R)
VUS
View →
MBD4 NM_003925.3:c.89C>T
NP_003916.1:p.(P30L)
Likely Benign
View →
FBXW7 NM_033632.3:c.1697G>T
NP_361014.1:p.(W566L)
VUS
View →
DDR2 NM_006182.3:c.1753A>G
NP_006173.2:p.(M585V)
VUS
View →
ATM NM_000051.4:c.7974T>C
NP_000042.3:p.(N2658=)
Likely Benign
View →
RAD51D NM_002878.4:c.198G>T
NP_002869.3:p.(V66=)
Likely Benign
View →
PALB2 NM_024675.4:c.2580G>T
NP_078951.2:p.(E860D)
VUS
View →
SETD2 NM_014159.6:c.850del
NP_054878.5:p.(S284Pfs*17)
Likely Pathogenic
View →
BARD1 NM_000465.4:c.722C>G
NP_000456.2:p.(S241C)
Benign
View →
ATM NM_000051.4:c.5488A>G
NP_000042.3:p.(M1830V)
Likely Benign
View →
FANCD2 NM_033084.4:c.266A>G
NP_149075.2:p.(Y89C)
VUS
View →
KLLN NM_001126049.2:c.373C>T
NP_001119521.1:p.(R125W)
VUS
View →
TP53 NM_000546.6:c.473G>T
NP_000537.3:p.(R158L)
Pathogenic
View →
PIK3CA NM_006218.4:c.1324G>C
NP_006209.2:p.(A442P)
VUS
View →
DICER1 NM_177438.3:c.2997T>G
NP_803187.1:p.(L999=)
Benign
View →
ERBB2 NM_004448.3:c.256A>G
NP_004439.2:p.(I86V)
VUS
View →
FGFR4 NM_213647.2:c.317C>T
NP_998812.1:p.(S106F)
VUS
View →
H3C2 NM_003537.3:c.290G>C
NP_003528.1:p.(C97S)
VUS
View →
MAPK1 NM_002745.4:c.913G>C
NP_002736.3:p.(E305Q)
VUS
View →
PIK3CA NM_006218.3:c.2176G>A
NP_006209.2:p.(E726K)
Likely Pathogenic
View →
CBL NM_005188.3:c.1096-1_1096delinsTT
NP_005179.2:p.?
Likely Pathogenic
View →
KIT NM_000222.2:c.1990+8C>T
NP_000213.1:p.?
Likely Benign
View →
EZH2 NM_004456.4:c.1852-9A>C
NP_004447.2:p.?
Likely Benign
View →
TET2 NM_001127208.2:c.1413C>T
NP_001120680.1:p.(S471=)
VUS
View →
NF1 NM_000267.3:c.846G>A
NP_000258.1:p.(Q282=)
Benign
View →
EZH2 NM_004456.4:c.1966G>A
NP_004447.2:p.(A656T)
VUS
View →
CUX1 NM_001202543.1:c.2383C>G
NP_001189472.1:p.(L795V)
Likely Benign
View →
TET2 NM_001127208.2:c.2814_2815del
NP_001120680.1:p.(Q939Dfs*32)
VUS
View →
PHF6 NM_001015877.1:c.1003A>T
NP_001015877.1:p.(R335*)
VUS
View →
CHEK2 NM_007194.4:c.1597A>T
NP_009125.1:p.(T533S)
VUS
View →
PTEN NM_000314.8:c.544T>G
NP_000305.3:p.(L182V)
VUS
View →
U2AF1 NM_006758.2:c.101C>T
NP_006749.1:p.(S34F)
Likely Pathogenic
View →
POLE NM_006231.4:c.6531+4C>T
NP_006222.2:p.?
VUS
View →
CTNNB1 NM_001904.4:c.269G>A
NP_001895.1:p.(R90Q)
VUS
View →
PTEN NM_000314.8:c.638C>G
NP_000305.3:p.(P213R)
VUS
View →
JAK2 NM_004972.3:c.1849G>T
NP_004963.1:p.(V617F)
Pathogenic
View →
BRCA2 NM_000059.4:c.8633-24T>G
NP_000050.3:p.?
VUS
View →
BRCA2 NM_000059.4:c.10027G>T
NP_000050.3:p.(E3343*)
VUS
View →
BRCA2 NM_000059.4:c.5661G>A
NP_000050.3:p.(T1887=)
Likely Benign
View →
BCOR NM_017745.5:c.519C>T
NP_060215.4:p.(S173=)
Likely Benign
View →
NF1 NM_000267.3:c.2325+16C>G
NP_000258.1:p.?
Likely Benign
View →
TET2 NM_001127208.2:c.3796A>T
NP_001120680.1:p.(N1266Y)
VUS
View →
CTNNB1 NM_001904.4:c.-48-3dup
NP_001895.1:p.?
VUS
View →
CTNNB1 NM_001904.3:c.101_102delinsTT
NP_001895.1:p.(G34V)
VUS
View →
FGFR2 NM_000141.4:c.2141A>C
NP_000132.3:p.(K714T)
VUS
View →
PIK3CA NM_006218.4:c.112C>T
NP_006209.2:p.(R38C)
VUS
View →
NRAS NM_002524.5:c.35G>T
NP_002515.1:p.(G12V)
Pathogenic
View →
FANCL NM_018062.3:c.580A>G
NP_060532.2:p.(I194V)
VUS
View →
MLH1 NM_000249.4:c.2041G>A
NP_000240.1:p.(A681T)
Pathogenic
View →
ATM NM_000051.3:c.8174A>G
NP_000042.3:p.(D2725G)
VUS
View →
BRCA1 NM_007294.4:c.4189A>G
NP_009225.1:p.(R1397G)
VUS
View →
PTCH1 NM_000264.5:c.1085C>T
NP_000255.2:p.(T362I)
VUS
View →
ESR1 NM_001122740.1:c.1235G>A
NP_001116212.1:p.(R412K)
VUS
View →
RAD51C NM_058216.3:c.923C>G
NP_478123.1:p.(A308G)
VUS
View →
FH NM_000143.4:c.6C>T
NP_000134.2:p.(Y2=)
VUS
View →
BRCA2 NM_000059.4:c.6495G>A
NP_000050.3:p.(L2165=)
Likely Benign
View →
PMS2 NM_000535.7:c.830C>A
NP_000526.2:p.(T277K)
Benign
View →
MET NM_001127500.3:c.3852+5T>C
NP_001120972.1:p.?
Likely Benign
View →
BRIP1 NM_032043.3:c.611C>G
NP_114432.2:p.(S204C)
VUS
View →
RAD51C NM_058216.3:c.30G>T
NP_478123.1:p.(M10I)
VUS
View →
MDM4 NM_002393.4:c.1091G>T
NP_002384.2:p.(R364I)
VUS
View →
TP53 NM_000546.6:c.-29+121G>T
NP_000537.3:p.?
VUS
View →
ATM NM_000051.4:c.662+13_662+14del
NP_000042.3:p.?
Likely Benign
View →
TP53 NM_000546.6:c.716A>G
NP_000537.3:p.(N239S)
Likely Pathogenic
View →
POLE NM_006231.4:c.2778G>C
NP_006222.2:p.(E926D)
VUS
View →
RET NM_020975.6:c.2410G>T
NP_066124.1:p.(V804L)
Likely Pathogenic
View →
GNA11 NM_002067.5:c.626A>T
NP_002058.2:p.(Q209L)
Pathogenic
View →
MYC NM_002467.6:c.314G>A
NP_002458.2:p.(G105D)
VUS
View →
BRCA1 NM_007294.4:c.2182A>T
NP_009225.1:p.(R728*)
Pathogenic
View →
CDKN2A NM_000077.4:c.151G>T
NP_000068.1:p.(V51F)
VUS
View →
PPP2R1A NM_014225.5:c.739A>G
NP_055040.2:p.(T247A)
VUS
View →
GBA1 NM_000157.4:c.1279G>A
NP_000148.2:p.(E427K)
VUS
View →
TSC2 NM_000548.4:c.3581G>T
NP_000539.2:p.(W1194L)
VUS
View →
ATR NM_001184.3:c.5459_5460insC
NP_001175.2:p.(D1821*)
Likely Pathogenic
View →
SMARCA4 NM_001128849.1:c.1333C>T
NP_001122321.1:p.(Q445*)
Likely Pathogenic
View →
SMAD4 NM_005359.5:c.1067C>T
NP_005350.1:p.(P356L)
VUS
View →
PIK3R1 NM_181523.2:c.1345_1347del
NP_852664.1:p.(L449del)
VUS
View →
CHEK1 NM_001274.5:c.1148A>T
NP_001265.2:p.(K383I)
VUS
View →
MYD88 NM_001172567.1:c.818T>C
NP_001166038.1:p.(L273P)
Pathogenic
View →