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 3 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
TP53 NM_000546.6:c.1118A>G
NP_000537.3:p.(K373R)
Likely Benign
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TP53 NM_000546.6:c.1118A>G
NP_000537.3:p.(K373R)
In progress — classification not generated yet.
View →
TP53 NM_000546.6:c.599_600del
NP_000537.3:p.(N200Ifs*8)
In progress — classification not generated yet.
View →
TP53 NM_000546.6:c.797G>T
NP_000537.3:p.(G266V)
VUS
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TSC2 NM_000548.5:c.1292C>T
NP_000539.2:p.(A431V)
VUS
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NF1 NM_001042492.3:c.6737del
NP_001035957.1:p.(P2246Qfs*19)
Likely Pathogenic
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TARDBP NM_007375.4:c.883G>A
NP_031401.1:p.(G295S)
VUS
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TARDBP NM_007375.4:c.881G>T
NP_031401.1:p.(G294V)
VUS
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MSH6 NM_000179.3:c.3674C>T
NP_000170.1:p.(T1225M)
VUS
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RB1 NM_000321.3:c.*1G>C
NP_000312.2:p.?
VUS
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GJB2 NM_004004.6:c.445G>A
NP_003995.2:p.(A149T)
VUS
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RB1 NM_000321.3:c.1390-17T>A
NP_000312.2:p.?
VUS
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TP53 NM_000546.6:c.797G>T
NP_000537.3:p.(G266V)
VUS
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POLE NM_006231.4:c.4275C>T
NP_006222.2:p.(G1425=)
VUS
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TP53 NM_000546.6:c.1001G>T
NP_000537.3:p.(G334V)
VUS
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DICER1 NM_177438.3:c.4014G>A
NP_803187.1:p.(A1338=)
Benign
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RET NM_020975.6:c.2073T>C
NP_066124.1:p.(G691=)
VUS
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ATM NM_000051.4:c.4324T>C
NP_000042.3:p.(Y1442H)
VUS
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TSC2 NM_000548.5:c.2476C>A
NP_000539.2:p.(L826M)
Likely Benign
View →
VHL NM_000551.4:c.541G>A
NP_000542.1:p.(V181I)
VUS
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VUS
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TP53 NM_000546.6:c.266_267del
NP_000537.3:p.(P89Lfs*59)
Likely Pathogenic
View →
PTEN NM_000314.8:c.395G>T
NP_000305.3:p.(G132V)
VUS
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PTEN NM_000314.8:c.129_155del
NP_000305.3:p.(E43_D51del)
VUS
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PTEN NM_000314.8:c.63C>T
NP_000305.3:p.(F21=)
VUS
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PMS2 NM_000535.7:c.1169C>G
NP_000526.2:p.(A390G)
VUS
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MLH1 NM_000249.4:c.2044_2045del
NP_000240.1:p.(M682Vfs*11)
VUS
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MLH1 NM_000249.4:c.549T>A
NP_000240.1:p.(Y183*)
VUS
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PTEN NM_000314.8:c.1027-2A>C
NP_000305.3:p.?
Pathogenic
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PTEN NM_000314.8:c.700_701del
NP_000305.3:p.(R234Gfs*8)
Likely Pathogenic
View →
BRCA2 NM_000059.4:c.6546_6574del
NP_000050.3:p.(K2182Nfs*5)
View →
BRCA2 NM_000059.4:c.7317A>G
NP_000050.3:p.(G2439=)
Likely Benign
View →
BRCA2 NM_000059.4:c.2164A>T
NP_000050.3:p.(K722*)
VUS
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TP53 NM_000546.6:c.1066G>C
NP_000537.3:p.(G356R)
Likely Benign
View →
FGFR4 NM_213647.2:c.770C>T
NP_998812.1:p.(A257V)
VUS
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CDKN2A NM_001195132.1:c.341C>T
NP_001182061.1:p.(P114L)
Pathogenic
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NRAS NM_002524.5:c.182A>T
NP_002515.1:p.(Q61L)
VUS
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MYCN NM_005378.5:c.926G>T
NP_005369.2:p.(G309V)
VUS
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CDKN2A NM_000077.4:c.76G>C
NP_000068.1:p.(E26Q)
VUS
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NF1 NM_001042492.2:c.*4T>C
NP_001035957.1:p.?
Benign
View →
SETBP1 NM_015559.2:c.1150A>G
NP_056374.2:p.(R384G)
VUS
View →
PRPF8 NM_006445.3:c.4639-17T>G
NP_006436.3:p.?
Benign
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NF1 NM_001042492.2:c.4836-2A>G
NP_001035957.1:p.?
Pathogenic
View →
ETV6 NM_001987.4:c.1204T>G
NP_001978.1:p.(Y402D)
VUS
View →
ASXL1 NM_015338.5:c.2148dup
NP_056153.2:p.(R717*)
VUS
View →
ZRSR2 NM_005089.3:c.983_984insGAA
NP_005080.1:p.(F328delinsLN)
VUS
View →
ETV6 NM_001987.4:c.642G>A
NP_001978.1:p.(P214=)
Benign
View →
RAD51C NM_058216.3:c.905-19T>C
NP_478123.1:p.?
VUS
View →
POLD1 NM_002691.4:c.1275C>T
NP_002682.2:p.(A425=)
Likely Benign
View →
SDHB NM_003000.3:c.158G>A
NP_002991.2:p.(G53E)
Benign
View →
MSH6 NM_000179.3:c.2463A>C
NP_000170.1:p.(L821=)
Likely Benign
View →
TSC1 NM_000368.5:c.163C>T
NP_000359.1:p.(Q55*)
Likely Pathogenic
View →
AXIN2 NM_004655.4:c.2013_2024del
NP_004646.3:p.(T672_R675del)
Benign
View →
CTNNA1 NM_001903.5:c.347G>A
NP_001894.2:p.(C116Y)
VUS
View →
APC NM_001127510.3:c.3479C>A
NP_001120982.1:p.(T1160K)
Likely Benign
View →
POLD1 NM_002691.4:c.653G>A
NP_002682.2:p.(R218H)
Likely Benign
View →
FANCD2 NM_033084.4:c.2255T>C
NP_149075.2:p.(I752T)
VUS
View →
NTHL1 NM_002528.7:c.31C>T
NP_002519.2:p.(R11W)
VUS
View →
NOTCH1 NM_017617.5:c.5885G>A
NP_060087.3:p.(R1962H)
VUS
View →
FGFR1 NM_001174067.1:c.1746C>A
NP_001167538.1:p.(C582*)
Likely Pathogenic
View →
PTEN NM_000314.6:c.674_675dup
NP_000305.3:p.(S226Ifs*31)
Likely Pathogenic
View →
CDKN2A NM_000077.4:c.221A>T
NP_000068.1:p.(D74V)
VUS
View →
NOTCH3 NM_000435.2:c.3192A>T
NP_000426.2:p.(E1064D)
VUS
View →
POLE NM_006231.4:c.941C>A
NP_006222.2:p.(S314*)
Likely Pathogenic
View →
KRAS NM_033360.4:c.292G>T
NP_203524.1:p.(E98*)
VUS
View →
POLE NM_006231.4:c.4519_4520del
NP_006222.2:p.(Q1507Afs*37)
Likely Pathogenic
View →
CHEK1 NM_001274.5:c.484C>T
NP_001265.2:p.(R162C)
VUS
View →
MSH2 NM_000251.3:c.712del
NP_000242.1:p.(Y238Ifs*8)
VUS
View →
PTEN NM_000314.8:c.775_781del
NP_000305.3:p.(H259Rfs*5)
Likely Pathogenic
View →
CTNNB1 NM_001904.4:c.134C>A
NP_001895.1:p.(S45Y)
VUS
View →
NOTCH2 NM_024408.3:c.5625del
NP_077719.2:p.(T1876Lfs*54)
Likely Pathogenic
View →
MLH1 NM_000249.4:c.1732-2A>G
NP_000240.1:p.?
Pathogenic
View →
SETD2 NM_014159.6:c.4260del
NP_054878.5:p.(E1420Dfs*12)
Likely Pathogenic
View →
COL4A2 NM_001846.4:c.4183C>T
NP_001837.2:p.(Q1395*)
VUS
View →
CDKN2A NM_000077.4:c.307_308insT
NP_000068.1:p.(R103Lfs*17)
Likely Pathogenic
View →
BRIP1 NM_032043.3:c.2593C>T
NP_114432.2:p.(R865W)
VUS
View →
PIK3R1 NM_181523.2:c.1126G>A
NP_852664.1:p.(G376R)
VUS
View →
SF3B1 NM_012433.3:c.2469G>A
NP_036565.2:p.(M823I)
VUS
View →
FBXW7 NM_033632.3:c.608C>T
NP_361014.1:p.(S203L)
VUS
View →
FBXW7 NM_033632.3:c.1436G>A
NP_361014.1:p.(R479Q)
Likely Pathogenic
View →
FGFR2 NM_000141.4:c.819C>G
NP_000132.3:p.(D273E)
VUS
View →
APC NM_001127510.3:c.8511T>C
NP_001120982.1:p.(S2837=)
Likely Benign
View →
BRCA2 NM_000059.4:c.2133C>T
NP_000050.3:p.(C711=)
Likely Benign
View →
ATM NM_000051.4:c.4394T>C
NP_000042.3:p.(L1465P)
VUS
View →
SDHB NM_003000.3:c.178A>G
NP_002991.2:p.(T60A)
VUS
View →
POLD1 NM_002691.4:c.1562G>A
NP_002682.2:p.(R521Q)
VUS
View →
CCNE1 NM_001238.4:c.617A>G
NP_001229.1:p.(Y206C)
VUS
View →
BRCA1 NM_007294.4:c.3260G>C
NP_009225.1:p.(G1087A)
Likely Benign
View →
BRCA1 NM_007294.4:c.3260G>C
NP_009225.1:p.(G1087A)
VUS
View →
HRAS NM_005343.4:c.173C>T
NP_005334.1:p.(T58I)
Likely Pathogenic
View →
HRAS NM_001130442.2:c.34G>A
NP_001123914.1:p.(G12S)
Pathogenic
View →
TP53 NM_000546.6:c.266_267del
NP_000537.3:p.(P89Lfs*59)
Likely Pathogenic
View →
ESR1 NM_001122740.1:c.1163T>A
NP_001116212.1:p.(M388K)
Likely Pathogenic
View →
TP53 NM_000546.6:c.1066G>C
NP_000537.3:p.(G356R)
Likely Benign
View →
TP53 NM_000546.6:c.1066G>C
NP_000537.3:p.(G356R)
Likely Benign
View →
EZHIP NM_203407.3:c.1379C>G
NP_981952.1:p.(S460C)
VUS
View →
KRAS NM_033360.3:c.35G>T
NP_203524.1:p.(G12V)
VUS
View →
ARID1A NM_006015.5:c.1217_1229dup
NP_006006.3:p.(P411Tfs*216)
Likely Pathogenic
View →
RET NM_020975.5:c.1837C>A
NP_066124.1:p.(P613T)
VUS
View →
NF1 NM_001042492.2:c.2190C>G
NP_001035957.1:p.(N730K)
VUS
View →