Project HERA

Variant repository

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

2132 variants 223 genes page 13 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
101 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
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)
Not classified
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 →
PTEN NM_000314.8:c.844G>T
NP_000305.3:p.(G282*)
Pathogenic
View →
PIK3CA NM_006218.4:c.2016-11G>A
NP_006209.2:p.?
VUS
View →
DICER1 NM_177438.3:c.5437G>C
NP_803187.1:p.(E1813Q)
VUS
View →
EZHIP NM_203407.3:c.1272G>A
NP_981952.1:p.(Q424=)
Likely Benign
View →
SMAD4 NM_005359.5:c.1081C>A
NP_005350.1:p.(R361S)
Likely Pathogenic
View →
AR NM_000044.4:c.2683del
NP_000035.2:p.(M895*)
Likely Pathogenic
View →
FOXL2 NM_023067.4:c.402C>G
NP_075555.1:p.(C134W)
Likely Pathogenic
View →
TERT NM_198253.2:c.3334C>A
NP_937983.2:p.(L1112M)
VUS
View →
JAK3 NM_000215.3:c.1531A>G
NP_000206.2:p.(M511V)
VUS
View →
NTRK1 NM_002529.3:c.1334G>A
NP_002520.2:p.(R445K)
VUS
View →
KMT2A NM_005933.3:c.7362T>C
NP_005924.2:p.(T2454=)
Likely Benign
View →
TET2 NM_001127208.2:c.5666C>T
NP_001120680.1:p.(P1889L)
VUS
View →
PRPF8 NM_006445.3:c.5352C>T
NP_006436.3:p.(N1784=)
Likely Benign
View →
TERT NM_198253.2:c.2781A>G
NP_937983.2:p.(L927=)
VUS
View →
ASXL1 NM_015338.5:c.2694G>A
NP_056153.2:p.(W898*)
VUS
View →
TET2 NM_001127208.2:c.2152del
NP_001120680.1:p.(L718Ffs*33)
Likely Pathogenic
View →
SETBP1 NM_015559.2:c.2953A>G
NP_056374.2:p.(I985V)
VUS
View →
RB1 NM_000321.2:c.345_351del
NP_000312.2:p.(F115Lfs*8)
Likely Pathogenic
View →
FANCD2 NM_033084.4:c.206-1G>A
NP_149075.2:p.?
Likely Pathogenic
View →
ESR1 NM_001122740.1:c.1610A>G
NP_001116212.1:p.(Y537C)
VUS
View →
BRAF NM_004333.5:c.1661T>C
NP_004324.2:p.(I554T)
VUS
View →
FBXW7 NM_033632.3:c.1697G>T
NP_361014.1:p.(W566L)
VUS
View →
PIK3CA NM_006218.4:c.2042G>C
NP_006209.2:p.(S681T)
VUS
View →
PSEN1 NM_000021.3:c.1234G>A
NP_000012.1:p.(V412I)
VUS
View →