Project HERA

Variant repository

Browse completed HERA interpretations, including applied criteria and available source records. No account is required to read reports.

2131 variants 223 genes page 10 of 22

Browse by gene

Ordered by number of pathogenic calls, then by volume.

223 genes
PTEN
94 variants · 2 transcripts
BRCA2
111 variants · 2 transcripts
TP53
84 variants · 2 transcripts
ATM
100 variants · 2 transcripts
BRCA1
77 variants · 2 transcripts
PALB2
67 variants · 2 transcripts
MLH1
30 variants · 2 transcripts
TET2
21 variants · 1 transcript
NRAS
18 variants · 2 transcripts
PTPN11
18 variants · 2 transcripts
MSH6
47 variants · 2 transcripts
MSH2
30 variants · 2 transcripts
BRAF
27 variants · 3 transcripts
KRAS
26 variants · 6 transcripts
RUNX1
24 variants · 2 transcripts
EGFR
10 variants · 2 transcripts
POLE
71 variants · 2 transcripts
NF1
31 variants · 3 transcripts
SMARCA4
9 variants · 2 transcripts
BARD1
21 variants · 1 transcript
STK11
19 variants · 2 transcripts
DNMT3A
13 variants · 1 transcript
RB1
12 variants · 2 transcripts
RET
11 variants · 2 transcripts
FH
9 variants · 1 transcript
FLT3
7 variants · 2 transcripts
FBXW7
7 variants · 1 transcript
GNAQ
5 variants · 2 transcripts
APC
25 variants · 4 transcripts
CDKN2A
17 variants · 3 transcripts
CTNNB1
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
44 variants · 3 transcripts
POLD1
26 variants · 2 transcripts
DICER1
17 variants · 2 transcripts
MUTYH
17 variants · 2 transcripts
SF3B1
12 variants · 3 transcripts
RAD51C
12 variants · 2 transcripts
RAD51D
10 variants · 2 transcripts
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
CBL
6 variants · 1 transcript
ERBB2
6 variants · 2 transcripts
BCOR
5 variants · 2 transcripts
EZH2
5 variants · 2 transcripts
GBA1
5 variants · 1 transcript
SMARCB1
4 variants · 1 transcript
FGFR3
4 variants · 1 transcript
GNAS
2 variants · 1 transcript
PMS2
27 variants · 2 transcripts
CHEK2
20 variants · 2 transcripts
TSC2
18 variants · 2 transcripts
MBD4
18 variants · 2 transcripts
PTCH1
15 variants · 2 transcripts
MSH3
12 variants · 1 transcript
NTRK1
12 variants · 1 transcript
MLH3
9 variants · 1 transcript
ROS1
9 variants · 1 transcript
MET
8 variants · 2 transcripts
CDK4
8 variants · 2 transcripts
BAP1
8 variants · 1 transcript
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
PHF6
6 variants · 1 transcript
CUX1
6 variants · 2 transcripts
GALNT12
6 variants · 1 transcript
ATR
6 variants · 1 transcript
FANCD2
6 variants · 1 transcript
AR
6 variants · 1 transcript
DDX41
5 variants · 1 transcript
ASXL1
5 variants · 1 transcript
NOTCH2
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
MPL
3 variants · 1 transcript
LRRK2
3 variants · 2 transcripts
NTHL1
3 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
16 variants · 1 transcript
BRIP1
14 variants · 1 transcript
AXIN2
14 variants · 1 transcript
RAD51B
10 variants · 2 transcripts
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
CHEK1
7 variants · 1 transcript
FANCL
7 variants · 1 transcript
CDK6
7 variants · 1 transcript
MYCN
7 variants · 2 transcripts
SDHB
6 variants · 1 transcript
SETBP1
5 variants · 1 transcript
KLLN
5 variants · 1 transcript
CTNNA1
5 variants · 1 transcript
CCND1
5 variants · 1 transcript
FGFR4
5 variants · 1 transcript
SH2B3
4 variants · 1 transcript
GATA2
4 variants · 1 transcript
MEN1
4 variants · 2 transcripts
EPCAM
3 variants · 1 transcript
SDHA
3 variants · 1 transcript
LZTR1
3 variants · 1 transcript
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
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
DLST
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
POLD1 NM_001308632.1:c.845C>T
NP_001295561.1:p.(T282M)
VUS
View →
NF1 NM_000267.3:c.3118A>T
NP_000258.1:p.(K1040*)
Likely Pathogenic
View →
NF1 NM_001042492.2:c.3479G>A
NP_001035957.1:p.(G1160D)
VUS
View →
RB1 NM_000321.2:c.2236G>T
NP_000312.2:p.(E746*)
VUS
View →
NOTCH3 NM_000435.2:c.5946G>T
NP_000426.2:p.(E1982D)
VUS
View →
NOTCH1 NM_017617.5:c.5081A>G
NP_060087.3:p.(Q1694R)
VUS
View →
BRCA2 NM_000059.4:c.*23A>C
NP_000050.3:p.?
VUS
View →
PALB2 NM_024675.4:c.1096A>G
NP_078951.2:p.(N366D)
VUS
View →
MSH3 NM_002439.5:c.2800G>T
NP_002430.3:p.(G934C)
VUS
View →
PTEN NM_000314.8:c.951_952del
NP_000305.3:p.(L318Yfs*6)
Likely Pathogenic
View →
BRCA2 NM_000059.4:c.4284dup
NP_000050.3:p.(Q1429Sfs*9)
Pathogenic
View →
BRIP1 NM_032043.3:c.143C>A
NP_114432.2:p.(T48K)
VUS
View →
NBN NM_002485.4:c.1873G>T
NP_002476.2:p.(E625*)
VUS
View →
MLH1 NM_000249.4:c.1039-25T>A
NP_000240.1:p.?
Benign
View →
MLH1 NM_000249.4:c.1344G>T
NP_000240.1:p.(E448D)
VUS
View →
BARD1 NM_000465.4:c.1409A>G
NP_000456.2:p.(N470S)
VUS
View →
MLH1 NM_000249.4:c.1989G>A
NP_000240.1:p.(E663=)
Pathogenic
View →
MLH1 NM_000249.4:c.381-1G>A
NP_000240.1:p.?
Pathogenic
View →
NRAS NM_002524.5:c.38G>T
NP_002515.1:p.(G13V)
VUS
View →
ATR NM_001184.3:c.2112G>T
NP_001175.2:p.(K704N)
VUS
View →
MTOR NM_004958.4:c.3610A>G
NP_004949.1:p.(I1204V)
VUS
View →
MSH6 NM_000179.2:c.4068_4071dup
NP_000170.1:p.(K1358Dfs*2)
Benign
View →
CREBBP NM_004380.2:c.3215C>G
NP_004371.2:p.(S1072C)
VUS
View →
FGFR3 NM_000142.4:c.109+2T>C
NP_000133.1:p.?
Likely Pathogenic
View →
NTRK1 NM_002529.3:c.375C>A
NP_002520.2:p.(N125K)
VUS
View →
ZRSR2 NM_005089.3:c.758T>C
NP_005080.1:p.(V253A)
VUS
View →
STAG2 NM_001042749.1:c.488T>A
NP_001036214.1:p.(M163K)
VUS
View →
RUNX1 NM_001754.4:c.1270T>G
NP_001745.2:p.(S424A)
Benign
View →
RUNX1 NM_001754.4:c.1265A>C
NP_001745.2:p.(E422A)
Benign
View →
STAG2 NM_001042749.1:c.482T>A
NP_001036214.1:p.(L161H)
VUS
View →
RUNX1 NM_001754.4:c.1252A>T
NP_001745.2:p.(M418L)
Benign
View →
NF1 NM_000267.3:c.2355A>G
NP_000258.1:p.(E785=)
VUS
View →
FBXW7 NM_033632.3:c.1394G>A
NP_361014.1:p.(R465H)
Likely Pathogenic
View →
PPP2R1A NM_014225.5:c.536C>G
NP_055040.2:p.(P179R)
Likely Pathogenic
View →
DICER1 NM_177438.2:c.1708A>T
NP_803187.1:p.(K570*)
Likely Pathogenic
View →
GNA11 NM_002067.5:c.892C>T
NP_002058.2:p.(P298S)
VUS
View →
VHL NM_000551.3:c.434A>T
NP_000542.1:p.(Q145L)
VUS
View →
NRAS NM_002524.5:c.101C>T
NP_002515.1:p.(P34L)
VUS
View →
TSC1 NM_000368.4:c.682C>T
NP_000359.1:p.(R228*)
Pathogenic
View →
SMARCA4 NM_001128849.1:c.3484G>A
NP_001122321.1:p.(G1162S)
Likely Pathogenic
View →
APC NM_001127511.3:c.3865del
NP_001120983.2:p.(I1289*)
Likely Pathogenic
View →
SMARCB1 NM_003073.4:c.1091_1093del
NP_003064.2:p.(K364del)
Not classified
View →
HRAS NM_001130442.2:c.374T>C
NP_001123914.1:p.(V125A)
VUS
View →
SMARCA4 NM_001128849.1:c.4927G>T
NP_001122321.1:p.(G1643C)
VUS
View →
SMARCB1 NM_003073.4:c.1130G>A
NP_003064.2:p.(R377H)
Pathogenic
View →
ATR NM_001184.3:c.6680A>G
NP_001175.2:p.(N2227S)
VUS
View →
EIF1AX NM_001412.4:c.338-1G>C
NP_001403.1:p.?
Likely Pathogenic
View →
GNAS NM_000516.5:c.601C>T
NP_000507.1:p.(R201C)
Likely Pathogenic
View →
CDK12 NM_016507.4:c.2964C>T
NP_057591.2:p.(F988=)
Likely Benign
View →
TERT NM_198253.2:c.899G>A
NP_937983.2:p.(G300D)
VUS
View →
EGFR NM_005228.4:c.2237_2255delinsT
NP_005219.2:p.(E746_S752delinsV)
Likely Pathogenic
View →
TERT NM_198253.2:c.833C>T
NP_937983.2:p.(P278L)
VUS
View →
ERCC2 NM_000400.3:c.298G>C
NP_000391.1:p.(E100Q)
VUS
View →
CHEK2 NM_007194.4:c.176C>A
NP_009125.1:p.(T59K)
VUS
View →
PTPN11 NM_002834.4:c.179G>T
NP_002825.3:p.(G60V)
Likely Pathogenic
View →
FLT3 NM_004119.2:c.2246C>A
NP_004110.2:p.(S749*)
VUS
View →
EIF1AX NM_001412.4:c.25G>C
NP_001403.1:p.(G9R)
VUS
View →
RB1 NM_000321.2:c.2341C>T
NP_000312.2:p.(P781S)
VUS
View →
MYH7 NM_000257.3:c.2548G>A
NP_000248.2:p.(A850T)
VUS
View →
PTPN11 NM_002834.4:c.169C>A
NP_002825.3:p.(Q57K)
VUS
View →
RAD51B NM_133509.4:c.263C>G
NP_598193.2:p.(S88C)
VUS
View →
SF3B1 NM_012433.3:c.2098A>G
NP_036565.2:p.(K700E)
Likely Pathogenic
View →
SETD2 NM_014159.6:c.7572dup
NP_054878.5:p.(K2525*)
VUS
View →
FGFR4 NM_213647.2:c.1144G>T
NP_998812.1:p.(V382L)
VUS
View →
FGF3 NM_005247.2:c.121G>T
NP_005238.1:p.(G41W)
VUS
View →
VHL NM_000551.3:c.241C>T
NP_000542.1:p.(P81S)
Benign
View →
BARD1 NM_000465.4:c.221G>T
NP_000456.2:p.(C74F)
VUS
View →
ATR NM_001184.3:c.1751A>G
NP_001175.2:p.(D584G)
VUS
View →
HRAS NM_005343.4:c.182A>G
NP_005334.1:p.(Q61R)
Pathogenic
View →
NTRK3 NM_001012338.2:c.1730C>T
NP_001012338.1:p.(P577L)
VUS
View →
BRAF NM_004333.5:c.2107G>A
NP_004324.2:p.(E703K)
VUS
View →
CTNNB1 NM_001098209.2:c.98C>A
NP_001091679.1:p.(S33Y)
Pathogenic
View →
DICER1 NM_177438.2:c.1468C>T
NP_803187.1:p.(R490C)
VUS
View →
POLD1 NM_002691.4:c.2716_2717del
NP_002682.2:p.(R906Dfs*47)
VUS
View →
MLH1 NM_000249.3:c.1433A>G
NP_000240.1:p.(D478G)
VUS
View →
ATM NM_000051.4:c.4574T>C
NP_000042.3:p.(I1525T)
VUS
View →
MSH2 NM_000251.3:c.1132del
NP_000242.1:p.(E378Kfs*34)
VUS
View →
KRAS NM_033360.3:c.35_37delinsATT
NP_203524.1:p.(G12_G13delinsDC)
VUS
View →
ATM NM_000051.3:c.4110_4111delinsAA
NP_000042.3:p.(D1371N)
VUS
View →
BARD1 NM_000465.4:c.1788del
NP_000456.2:p.(K596Nfs*9)
Pathogenic
View →
EGFR NM_005228.4:c.2314_2319dup
NP_005219.2:p.(P772_H773dup)
VUS
View →
AR NM_000044.4:c.515C>T
NP_000035.2:p.(P172L)
VUS
View →
NOTCH2 NM_024408.3:c.7354C>T
NP_077719.2:p.(Q2452*)
VUS
View →
RAD54L NM_003579.4:c.888C>T
NP_003570.2:p.(D296=)
Likely Benign
View →
STK11 NM_000455.5:c.249G>A
NP_000446.1:p.(K83=)
Likely Benign
View →
PMS2 NM_000535.7:c.86G>C
NP_000526.2:p.(G29A)
VUS
View →
BRCA2 NM_000059.4:c.8673_8674del
NP_000050.3:p.(R2892Tfs*14)
Pathogenic
View →
BRCA1 NM_007294.4:c.4935G>C
NP_009225.1:p.(R1645S)
Benign
View →
BRIP1 NM_032043.3:c.1794+19T>C
NP_114432.2:p.?
VUS
View →
STK11 NM_000455.5:c.*9G>A
NP_000446.1:p.?
VUS
View →
RAD51D NM_002878.4:c.829C>G
NP_002869.3:p.(L277V)
VUS
View →
BRCA2 NM_000059.4:c.241T>C
NP_000050.3:p.(F81L)
Likely Benign
View →
CHEK1 NM_001274.5:c.922A>T
NP_001265.2:p.(S308C)
VUS
View →
BRCA1 NM_007294.4:c.1367T>C
NP_009225.1:p.(I456T)
Likely Benign
View →
MSH2 NM_000251.2:c.1381G>A
NP_000242.1:p.(D461N)
VUS
View →
BRAF NM_004333.5:c.1447A>G
NP_004324.2:p.(K483E)
VUS
View →
ESR1 NM_001122740.1:c.1661G>A
NP_001116212.1:p.(S554N)
VUS
View →
BARD1 NM_000465.4:c.1694G>A
NP_000456.2:p.(R565H)
Likely Benign
View →
PTEN NM_000314.8:c.106G>C
NP_000305.3:p.(G36R)
Pathogenic
View →
PIK3CA NM_006218.4:c.2937-15T>C
NP_006209.2:p.?
VUS
View →