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 12 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
MSH3 NM_002439.5:c.8G>A
NP_002430.3:p.(R3H)
Likely Benign
View →
ATM NM_000051.4:c.7875T>G
NP_000042.3:p.(D2625E)
VUS
View →
MITF NM_198159.3:c.394C>A
NP_937802.1:p.(Q132K)
VUS
View →
POLE NM_006231.4:c.1871A>C
NP_006222.2:p.(H624P)
VUS
View →
BRCA1 NM_007294.4:c.3700_3704del
NP_009225.1:p.(V1234Qfs*8)
Pathogenic
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ATM NM_000051.4:c.8419-7T>G
NP_000042.3:p.?
VUS
View →
ATM NM_000051.4:c.7357C>T
NP_000042.3:p.(R2453C)
VUS
View →
BRCA1 NM_007294.4:c.738del
NP_009225.1:p.(N247Tfs*51)
Pathogenic
View →
POLE NM_006231.4:c.-11C>T
NP_006222.2:p.?
VUS
View →
TSC2 NM_000548.4:c.981G>T
NP_000539.2:p.(M327I)
VUS
View →
TERT NM_198253.2:c.2765T>A
NP_937983.2:p.(M922K)
Not classified
View →
EGFR NM_005228.4:c.1372G>A
NP_005219.2:p.(D458N)
VUS
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BAP1 NM_004656.4:c.86T>G
NP_004647.1:p.(V29G)
VUS
View →
MDM2 NM_002392.5:c.1270G>A
NP_002383.2:p.(E424K)
VUS
View →
PRPF8 NM_006445.3:c.3775-14del
NP_006436.3:p.?
Likely Benign
View →
KMT2A NM_005933.3:c.5031G>A
NP_005924.2:p.(E1677=)
Likely Benign
View →
—
VUS
View →
PRPF8 NM_006445.3:c.3775-14del
NP_006436.3:p.?
Likely Benign
View →
TET2 NM_001127208.2:c.4466dup
NP_001120680.1:p.(N1489Kfs*2)
VUS
View →
TERT NM_198253.2:c.468C>T
NP_937983.2:p.(C156=)
Likely Benign
View →
TET2 NM_001127208.2:c.5920A>C
NP_001120680.1:p.(R1974=)
VUS
View →
DNMT3A NM_022552.4:c.1256del
NP_072046.2:p.(P419Lfs*232)
VUS
View →
CUX1 NM_001202543.1:c.2505G>A
NP_001189472.1:p.(W835*)
VUS
View →
SF3B1 NM_012433.2:c.2359del
NP_036565.2:p.(I787Lfs*3)
Likely Pathogenic
View →
U2AF1 NM_006758.2:c.132+18del
NP_006749.1:p.?
VUS
View →
PALB2 NM_024675.4:c.1001A>G
NP_078951.2:p.(Y334C)
VUS
View →
PPM1D NM_003620.3:c.1619del
NP_003611.1:p.(E540Gfs*7)
VUS
View →
SH2B3 NM_005475.2:c.127C>T
NP_005466.1:p.(R43C)
VUS
View →
TET2 NM_001127208.2:c.5481del
NP_001120680.1:p.(K1827Nfs*6)
Likely Pathogenic
View →
BCORL1 NM_021946.4:c.3143G>A
NP_068765.3:p.(R1048Q)
VUS
View →
POLE NM_006231.4:c.6330+19G>A
NP_006222.2:p.?
Benign
View →
POLD1 NM_002691.4:c.376C>A
NP_002682.2:p.(R126S)
VUS
View →
POLD1 NM_002691.4:c.2518G>A
NP_002682.2:p.(V840M)
VUS
View →
GATA2 NM_001145661.1:c.710G>A
NP_001139133.1:p.(G237D)
Benign
View →
POLD1 NM_002691.4:c.3046C>T
NP_002682.2:p.(R1016C)
VUS
View →
POLD1 NM_002691.4:c.1704G>A
NP_002682.2:p.(L568=)
VUS
View →
PMS2 NM_000535.7:c.33T>C
NP_000526.2:p.(P11=)
VUS
View →
PMS2 NM_000535.7:c.2096A>T
NP_000526.2:p.(D699V)
VUS
View →
PMS2 NM_000535.7:c.705+24C>T
NP_000526.2:p.?
Likely Benign
View →
PTEN NM_000314.8:c.324_354del
NP_000305.3:p.(D109Lfs*15)
Likely Pathogenic
View →
BRIP1 NM_032043.3:c.1372G>C
NP_114432.2:p.(E458Q)
VUS
View →
TP53 NM_000546.6:c.431_436del
NP_000537.3:p.(Q144_W146delinsR)
VUS
View →
BRCA2 NM_000059.4:c.1501A>G
NP_000050.3:p.(I501V)
Likely Benign
View →
BRCA2 NM_000059.4:c.7092_7099del
NP_000050.3:p.(E2364Dfs*25)
Pathogenic
View →
BRCA2 NM_000059.4:c.6698C>A
NP_000050.3:p.(A2233D)
Likely Benign
View →
BARD1 NM_000465.4:c.1658C>G
NP_000456.2:p.(S553*)
Pathogenic
View →
MSH6 NM_000179.3:c.3162C>T
NP_000170.1:p.(I1054=)
Likely Benign
View →
CHEK2 NM_007194.4:c.400G>C
NP_009125.1:p.(D134H)
VUS
View →
BRCA1 NM_007294.4:c.2998_3003del
NP_009225.1:p.(E1000_E1001del)
Likely Benign
View →
BRCA2 NM_000059.4:c.7977-15T>G
NP_000050.3:p.?
VUS
View →
PTEN NM_000314.8:c.-666G>A
NP_000305.3:p.?
Benign
View →
MLH1 NM_000249.4:c.1875T>G
NP_000240.1:p.(Y625*)
Pathogenic
View →
ATM NM_000051.4:c.7927+13T>A
NP_000042.3:p.?
Likely Benign
View →
PIK3R1 NM_181523.2:c.1042del
NP_852664.1:p.(R348Efs*25)
Likely Pathogenic
View →
FGFR1 NM_023110.3:c.1368G>T
NP_075598.2:p.(M456I)
VUS
View →
TSC1 NM_000368.4:c.1801C>A
NP_000359.1:p.(P601T)
VUS
View →
CDKN2A NM_001195132.1:c.124A>C
NP_001182061.1:p.(N42H)
VUS
View →
KDR NM_002253.3:c.2300T>C
NP_002244.1:p.(I767T)
VUS
View →
PDGFRA NM_006206.6:c.2524_2526delinsCGA
NP_006197.1:p.(D842R)
VUS
View →
PMS2 NM_000535.7:c.736_741delinsTGTGTGTGAAG
NP_000526.2:p.(P246Cfs*3)
Pathogenic
View →
DMP1 NM_004407.4:c.273del
NP_004398.1:p.(S92Pfs*141)
VUS
View →
SMARCA4 NM_001128849.1:c.2764T>A
NP_001122321.1:p.(W922R)
VUS
View →
CACNA1C NM_000719.7:c.5779C>G
NP_000710.5:p.(H1927D)
VUS
View →
CDC73 NM_024529.5:c.237+29_237+32del
NP_078805.3:p.?
Benign
View →
MSH6 NM_000179.3:c.2526T>G
NP_000170.1:p.(A842=)
Likely Benign
View →
MSH6 NM_000179.3:c.3603C>A
NP_000170.1:p.(L1201=)
Likely Benign
View →
MSH2 NM_000251.3:c.211+9C>A
NP_000242.1:p.?
Likely Benign
View →
STK11 NM_000455.5:c.1226G>A
NP_000446.1:p.(R409Q)
VUS
View →
BRCA1 NM_007294.4:c.5057A>G
NP_009225.1:p.(H1686R)
Likely Pathogenic
View →
MSH6 NM_000179.3:c.533G>T
NP_000170.1:p.(R178L)
VUS
View →
GALNT12 NM_024642.5:c.5G>A
NP_078918.3:p.(W2*)
Likely Pathogenic
View →
MSH2 NM_000251.3:c.1316_1318del
NP_000242.1:p.(P439del)
VUS
View →
KDR NM_002253.3:c.3247A>T
NP_002244.1:p.(T1083S)
VUS
View →
VHL NM_000551.3:c.104C>T
NP_000542.1:p.(A35V)
Likely Benign
View →
MAP2K4 NM_003010.3:c.400C>T
NP_003001.1:p.(R134W)
VUS
View →
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
View →
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
View →
AR NM_000044.4:c.94G>A
NP_000035.2:p.(E32K)
VUS
View →
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
View →
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 →