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 11 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
BRCA1 NM_007294.4:c.2531G>C
NP_009225.1:p.(S844T)
Likely Benign
View →
ATM NM_000051.3:c.4818dup
NP_000042.3:p.(P1607Sfs*6)
Pathogenic
View →
RAD51D NM_002878.3:c.26G>T
NP_002869.3:p.(C9F)
VUS
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RET NM_020975.6:c.2711C>T
NP_066124.1:p.(S904F)
Likely Pathogenic
View →
PTEN NM_000314.8:c.993C>A
NP_000305.3:p.(D331E)
VUS
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AR NM_000044.4:c.94G>A
NP_000035.2:p.(E32K)
VUS
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PPARG NM_015869.4:c.922C>T
NP_056953.2:p.(R308C)
VUS
View →
MBD4 NM_003925.3:c.682G>C
NP_003916.1:p.(V228L)
VUS
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ESR1 NM_001122740.1:c.1613A>G
NP_001116212.1:p.(D538G)
Likely Pathogenic
View →
PDCD10 NM_007217.3:c.345T>G
NP_009148.2:p.(S115R)
VUS
View →
PDCD10 NM_007217.3:c.345T>G
NP_009148.2:p.(S115R)
VUS
View →
KRAS NM_033360.3:c.34_35delinsTGTGC
NP_203524.1:p.(G12delinsCA)
VUS
View →
PPARG NM_015869.4:c.881A>G
NP_056953.2:p.(H294R)
VUS
View →
ERBB2 NM_004448.3:c.2873G>C
NP_004439.2:p.(C958S)
VUS
View →
KEAP1 NM_012289.4:c.44G>A
NP_036421.2:p.(R15Q)
VUS
View →
IDH2 NM_002168.3:c.515G>A
NP_002159.2:p.(R172K)
VUS
View →
NRAS NM_002524.5:c.35G>A
NP_002515.1:p.(G12D)
VUS
View →
ATM NM_000051.3:c.8056T>C
NP_000042.3:p.(F2686L)
VUS
View →
VUS
View →
PDGFRA NM_006206.6:c.2525A>T
NP_006197.1:p.(D842V)
Likely Pathogenic
View →
TP53 NM_000546.5:c.580del
NP_000537.3:p.(I195Sfs*52)
Likely Pathogenic
View →
VHL NM_000551.3:c.445G>T
NP_000542.1:p.(A149S)
Likely Pathogenic
View →
MYCN NM_005378.5:c.1340T>C
NP_005369.2:p.(L447S)
VUS
View →
EGFR NM_005228.4:c.2317_2318insCCCACCCCA
NP_005219.2:p.(H773delinsPHPN)
VUS
View →
CDK12 NM_016507.4:c.2351G>A
NP_057591.2:p.(R784Q)
VUS
View →
RNF43 NM_017763.5:c.1403C>T
NP_060233.3:p.(S468L)
VUS
View →
RAD51 NM_133487.3:c.235C>T
NP_597994.3:p.(R79C)
VUS
View →
FANCL NM_018062.3:c.355G>A
NP_060532.2:p.(G119R)
VUS
View →
NF1 NM_001042492.2:c.6776T>C
NP_001035957.1:p.(V2259A)
VUS
View →
CDK6 NM_001259.8:c.915G>T
NP_001250.1:p.(R305S)
VUS
View →
CDK12 NM_016507.4:c.4099G>A
NP_057591.2:p.(V1367I)
VUS
View →
CCND1 NM_053056.3:c.517_519del
NP_444284.1:p.(E173del)
VUS
View →
RAD51C NM_058216.3:c.848C>T
NP_478123.1:p.(T283I)
VUS
View →
MYC NM_002467.6:c.1085C>T
NP_002458.2:p.(S362F)
Benign
View →
MBD4 NM_003925.3:c.1177T>G
NP_003916.1:p.(F393V)
Likely Benign
View →
BRIP1 NM_032043.3:c.476A>C
NP_114432.2:p.(K159T)
Likely Benign
View →
PPARG NM_015869.4:c.338C>T
NP_056953.2:p.(P113L)
VUS
View →
RNF43 NM_017763.5:c.1196C>T
NP_060233.3:p.(P399L)
VUS
View →
RAD50 NM_005732.3:c.2301dup
NP_005723.2:p.(I768Hfs*14)
VUS
View →
FGFR3 NM_000142.4:c.1267G>A
NP_000133.1:p.(V423M)
VUS
View →
BARD1 NM_000465.4:c.1217G>A
NP_000456.2:p.(R406Q)
VUS
View →
NTRK2 NM_006180.4:c.2061C>A
NP_006171.2:p.(H687Q)
VUS
View →
FGFR1 NM_001174067.1:c.521C>G
NP_001167538.1:p.(T174R)
VUS
View →
CDKN2A NM_000077.4:c.9_32del
NP_000068.1:p.(A4_P11del)
View →
NF1 NM_000267.3:c.7039G>T
NP_000258.1:p.(E2347*)
Pathogenic
View →
ATRX NM_000489.5:c.7315C>A
NP_000480.3:p.(P2439T)
Likely Benign
View →
BRAF NM_004333.6:c.1741A>T
NP_004324.2:p.(N581Y)
VUS
View →
NOTCH2 NM_024408.3:c.3570G>C
NP_077719.2:p.(E1190D)
VUS
View →
TP53 NM_000546.5:c.214C>T
NP_000537.3:p.(P72S)
VUS
View →
TP53 NM_000546.5:c.214_215delinsTG
NP_000537.3:p.(P72C)
VUS
View →
POLE NM_006231.3:c.4735C>T
NP_006222.2:p.(R1579C)
VUS
View →
ROS1 NM_002944.2:c.6079G>A
NP_002935.2:p.(E2027K)
VUS
View →
CYP21A2 NM_000500.9:c.1A>G
NP_000491.4:p.(M1?)
Pathogenic
View →
RAD51C NM_058216.3:c.431T>C
NP_478123.1:p.(I144T)
VUS
View →
EIF1AX NM_001412.4:c.44G>T
NP_001403.1:p.(G15V)
VUS
View →
RET NM_020975.6:c.2776C>T
NP_066124.1:p.(H926Y)
VUS
View →
ATRX NM_000489.5:c.5698-1G>C
NP_000480.3:p.?
Likely Pathogenic
View →
RAD51D NM_002878.3:c.422T>C
NP_002869.3:p.(L141P)
VUS
View →
VHL NM_000551.3:c.154G>A
NP_000542.1:p.(E52K)
Benign
View →
ROS1 NM_002944.2:c.6202_6203del
NP_002935.2:p.(V2068Lfs*15)
Likely Pathogenic
View →
VUS
View →
FGFR1 NM_001174067.1:c.2242C>T
NP_001167538.1:p.(H748Y)
VUS
View →
PIK3R1 NM_181523.2:c.2079A>T
NP_852664.1:p.(E693D)
VUS
View →
RAD51C NM_058216.3:c.493A>G
NP_478123.1:p.(M165V)
VUS
View →
DICER1 NM_177438.2:c.4199A>G
NP_803187.1:p.(D1400G)
Likely Benign
View →
NRAS NM_002524.4:c.35G>A
NP_002515.1:p.(G12D)
Likely Pathogenic
View →
KMT2B NM_014727.2:c.5989C>G
NP_055542.1:p.(L1997V)
VUS
View →
SMARCA4 NM_001128849.1:c.1813-2A>T
NP_001122321.1:p.?
Likely Pathogenic
View →
STK11 NM_000455.5:c.129_141del
NP_000446.1:p.(K44Sfs*3)
Likely Pathogenic
View →
ROS1 NM_002944.2:c.6609C>A
NP_002935.2:p.(D2203E)
VUS
View →
NTRK2 NM_006180.4:c.2033C>T
NP_006171.2:p.(A678V)
VUS
View →
CBL NM_005188.3:c.1240C>A
NP_005179.2:p.(Q414K)
VUS
View →
PIK3CB NM_006219.2:c.3200A>T
NP_006210.1:p.(D1067V)
VUS
View →
TP53 NM_000546.6:c.-29+102T>G
NP_000537.3:p.?
VUS
View →
PTCH1 NM_000264.5:c.2438C>T
NP_000255.2:p.(P813L)
VUS
View →
BRCA1 NM_007294.3:c.5432A>G
NP_009225.1:p.(Q1811R)
VUS
View →
MYCN NM_005378.6:c.865_867del
NP_005369.2:p.(S289del)
VUS
View →
BRCA2 NM_000059.3:c.3069_3074del
NP_000050.2:p.(N1023_I1024del)
Likely Benign
View →
CDK6 NM_001259.8:c.401A>G
NP_001250.1:p.(D134G)
VUS
View →
PTEN NM_000314.8:c.388C>G
NP_000305.3:p.(R130G)
Likely Pathogenic
View →
GLA NM_000169.3:c.937G>T
NP_000160.1:p.(D313Y)
Likely Benign
View →
GNA11 NM_002067.5:c.506_507delinsTT
NP_002058.2:p.(T169I)
VUS
View →
MYC NM_002467.5:c.517G>A
NP_002458.2:p.(D173N)
VUS
View →
NTRK2 NM_006180.4:c.1529C>A
NP_006171.2:p.(S510*)
Likely Pathogenic
View →
GNA11 NM_002067.5:c.735+1_736-1del
NP_002058.2:p.?
Likely Pathogenic
View →
ABL1 NM_007313.2:c.1001C>T
NP_009297.2:p.(T334I)
Likely Pathogenic
View →
PTPN11 NM_002834.4:c.200G>A
NP_002825.3:p.(G67E)
VUS
View →
SMAD4 NM_005359.5:c.1081C>G
NP_005350.1:p.(R361G)
Pathogenic
View →
PRKD1 NM_002742.3:c.2130A>T
NP_002733.2:p.(E710D)
VUS
View →
NRAS NM_002524.4:c.34G>T
NP_002515.1:p.(G12C)
Pathogenic
View →
ATM NM_000051.4:c.2522A>C
NP_000042.3:p.(D841A)
Likely Benign
View →
CHEK2 NM_007194.4:c.1095+19G>A
NP_009125.1:p.?
Likely Benign
View →
SMARCA4 NM_001128849.3:c.3894C>T
NP_001122321.1:p.(D1298=)
Likely Benign
View →
PTCH1 NM_000264.5:c.1641C>T
NP_000255.2:p.(S547=)
Benign
View →
BAP1 NM_004656.4:c.1081_1084del
NP_004647.1:p.(L361Tfs*68)
Likely Pathogenic
View →
CCNE1 NM_001238.4:c.254G>A
NP_001229.1:p.(R85Q)
VUS
View →
PALB2 NM_024675.4:c.3044C>T
NP_078951.2:p.(T1015I)
VUS
View →
JAK1 NM_002227.3:c.1909G>A
NP_002218.2:p.(E637K)
VUS
View →
TP53 NM_000546.6:c.-29+100dup
NP_000537.3:p.?
VUS
View →
CTNNB1 NM_001904.4:c.643G>A
NP_001895.1:p.(A215T)
VUS
View →