Project HERA

Variant repository

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

2380 variants 270 genes page 8 of 24

Browse by gene

Ordered by number of pathogenic calls, then by volume.

270 genes
PTEN
111 variants · 2 transcripts
TP53
90 variants · 2 transcripts
BRCA2
115 variants · 2 transcripts
ATM
108 variants · 2 transcripts
BRCA1
81 variants · 2 transcripts
PALB2
71 variants · 2 transcripts
EGFR
14 variants · 2 transcripts
MLH1
32 variants · 2 transcripts
KRAS
31 variants · 7 transcripts
POLE
75 variants · 2 transcripts
BRAF
34 variants · 3 transcripts
TET2
21 variants · 1 transcript
PTPN11
20 variants · 3 transcripts
NRAS
19 variants · 2 transcripts
IDH1
7 variants · 2 transcripts
MSH6
49 variants · 2 transcripts
MSH2
31 variants · 2 transcripts
RUNX1
24 variants · 2 transcripts
KIT
11 variants · 2 transcripts
FGFR3
8 variants · 2 transcripts
NF1
31 variants · 3 transcripts
CTNNB1
22 variants · 3 transcripts
DNMT3A
14 variants · 2 transcripts
RET
14 variants · 2 transcripts
IDH2
11 variants · 3 transcripts
SMARCA4
9 variants · 2 transcripts
FLT3
8 variants · 2 transcripts
FBXW7
8 variants · 2 transcripts
CFTR
8 variants · 1 transcript
GNAQ
6 variants · 2 transcripts
APC
29 variants · 4 transcripts
BARD1
22 variants · 1 transcript
STK11
19 variants · 2 transcripts
CDKN2A
18 variants · 3 transcripts
RB1
12 variants · 2 transcripts
ESR1
11 variants · 2 transcripts
HRAS
9 variants · 3 transcripts
FH
9 variants · 1 transcript
SMAD4
7 variants · 2 transcripts
GNA11
7 variants · 1 transcript
GNAS
4 variants · 2 transcripts
PIK3CA
52 variants · 3 transcripts
SF3B1
14 variants · 3 transcripts
ERBB2
10 variants · 2 transcripts
TSC1
10 variants · 2 transcripts
PPM1D
9 variants · 1 transcript
FGFR2
9 variants · 2 transcripts
NF2
9 variants · 1 transcript
CBL
7 variants · 2 transcripts
ALK
7 variants · 2 transcripts
ATRX
7 variants · 1 transcript
EZH2
6 variants · 2 transcripts
GBA1
6 variants · 1 transcript
SETD2
6 variants · 1 transcript
ARID1A
5 variants · 1 transcript
TTR
3 variants · 1 transcript
POLD1
26 variants · 2 transcripts
CHEK2
22 variants · 2 transcripts
DICER1
17 variants · 2 transcripts
MUTYH
17 variants · 2 transcripts
RAD51C
12 variants · 2 transcripts
RAD51D
10 variants · 2 transcripts
PIK3R1
9 variants · 1 transcript
VHL
8 variants · 2 transcripts
NOTCH3
8 variants · 1 transcript
FGFR1
8 variants · 2 transcripts
ZRSR2
6 variants · 1 transcript
ASXL1
6 variants · 2 transcripts
BCOR
5 variants · 2 transcripts
MPL
4 variants · 2 transcripts
MAP2K1
4 variants · 2 transcripts
SMARCB1
4 variants · 1 transcript
U2AF1
4 variants · 2 transcripts
AKT1
3 variants · 2 transcripts
NBN
3 variants · 2 transcripts
JAK2
2 variants · 2 transcripts
HEXA
2 variants · 1 transcript
PKP2
2 variants · 2 transcripts
PMS2
29 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
MET
9 variants · 3 transcripts
ROS1
9 variants · 1 transcript
SDHB
8 variants · 1 transcript
CDK4
8 variants · 2 transcripts
BAP1
8 variants · 1 transcript
CDK12
8 variants · 1 transcript
CREBBP
7 variants · 1 transcript
EIF1AX
7 variants · 1 transcript
PHF6
6 variants · 1 transcript
CUX1
6 variants · 2 transcripts
GALNT12
6 variants · 1 transcript
NOTCH1
6 variants · 1 transcript
ATR
6 variants · 1 transcript
FANCD2
6 variants · 1 transcript
AR
6 variants · 1 transcript
DDX41
5 variants · 1 transcript
NOTCH2
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
ERBB3
4 variants · 2 transcripts
RAD50
4 variants · 1 transcript
FOXL2
4 variants · 1 transcript
STAG2
4 variants · 1 transcript
FGF3
4 variants · 1 transcript
NTHL1
4 variants · 1 transcript
ABL1
3 variants · 3 transcripts
LRRK2
3 variants · 2 transcripts
MYH7
3 variants · 2 transcripts
HBB
3 variants · 1 transcript
LDLR
3 variants · 1 transcript
FLCN
2 variants · 1 transcript
RECQL4
2 variants · 2 transcripts
STAT3
2 variants · 2 transcripts
MYD88
2 variants · 2 transcripts
PPP2R1A
2 variants · 1 transcript
SMO
2 variants · 1 transcript
CEBPA
2 variants · 1 transcript
PRKN
2 variants · 1 transcript
MYBPC3
2 variants · 1 transcript
RYR1
2 variants · 1 transcript
KCNQ1
2 variants · 1 transcript
RAC1
2 variants · 2 transcripts
FBXO31
1 variant · 1 transcript
FBP1
1 variant · 1 transcript
MAX
1 variant · 1 transcript
SLC12A3
1 variant · 1 transcript
DPYD
1 variant · 1 transcript
MEFV
1 variant · 1 transcript
NOD2
1 variant · 1 transcript
CSF3R
1 variant · 1 transcript
ATP7B
1 variant · 1 transcript
BTD
1 variant · 1 transcript
CXCR4
1 variant · 1 transcript
ACADM
1 variant · 1 transcript
MED12
1 variant · 1 transcript
ACVR1
1 variant · 1 transcript
PRNP
1 variant · 1 transcript
PRSS1
1 variant · 1 transcript
ASPA
1 variant · 1 transcript
ELP1
1 variant · 1 transcript
LMNA
1 variant · 1 transcript
BLM
1 variant · 1 transcript
DHCR7
1 variant · 1 transcript
KCNJ11
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
SETBP1
5 variants · 1 transcript
KLLN
5 variants · 1 transcript
CTNNA1
5 variants · 1 transcript
BMPR1A
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
GJB2
4 variants · 1 transcript
EPCAM
3 variants · 1 transcript
SDHA
3 variants · 1 transcript
LZTR1
3 variants · 1 transcript
MYCL
3 variants · 1 transcript
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
CALR
3 variants · 2 transcripts
HFE
3 variants · 1 transcript
SRSF2
2 variants · 1 transcript
HOXB13
2 variants · 1 transcript
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
HNF1A
2 variants · 2 transcripts
CCNE1
2 variants · 1 transcript
PRKD1
2 variants · 1 transcript
GLA
2 variants · 1 transcript
CDC73
2 variants · 1 transcript
MRE11
2 variants · 1 transcript
FANCA
2 variants · 1 transcript
H3-3A
2 variants · 2 transcripts
FANCI
2 variants · 1 transcript
RAD54L
2 variants · 1 transcript
SDHD
2 variants · 1 transcript
TARDBP
2 variants · 1 transcript
SERPINA1
2 variants · 1 transcript
MTHFR
2 variants · 1 transcript
G6PD
2 variants · 1 transcript
APOL1
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
POLG
1 variant · 1 transcript
COL4A1
1 variant · 1 transcript
CDK2
1 variant · 1 transcript
ERBB4
1 variant · 1 transcript
MDM4
1 variant · 1 transcript
MAPK1
1 variant · 1 transcript
POT1
1 variant · 1 transcript
CCND2
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
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
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
RAD21
1 variant · 1 transcript
COL4A2
1 variant · 1 transcript
DLST
1 variant · 1 transcript
PTPN4
1 variant · 1 transcript
NPM1
1 variant · 1 transcript
F5
1 variant · 1 transcript
APOB
1 variant · 1 transcript
APOE
1 variant · 1 transcript
CYP2C19
1 variant · 1 transcript
SLCO1B1
1 variant · 1 transcript
CYP2C9
1 variant · 1 transcript
PAH
1 variant · 1 transcript
TPMT
1 variant · 1 transcript
FANCC
1 variant · 1 transcript
GALT
1 variant · 1 transcript
CYP3A5
1 variant · 1 transcript
SLC26A4
1 variant · 1 transcript
SPINK1
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
PIK3R1 NM_181523.2:c.1126G>A
NP_852664.1:p.(G376R)
VUS
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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
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FBXW7 NM_033632.3:c.1436G>A
NP_361014.1:p.(R479Q)
Likely Pathogenic
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FGFR2 NM_000141.4:c.819C>G
NP_000132.3:p.(D273E)
VUS
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APC NM_001127510.3:c.8511T>C
NP_001120982.1:p.(S2837=)
Likely Benign
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BRCA2 NM_000059.4:c.2133C>T
NP_000050.3:p.(C711=)
Likely Benign
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ATM NM_000051.4:c.4394T>C
NP_000042.3:p.(L1465P)
VUS
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SDHB NM_003000.3:c.178A>G
NP_002991.2:p.(T60A)
VUS
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POLD1 NM_002691.4:c.1562G>A
NP_002682.2:p.(R521Q)
VUS
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CCNE1 NM_001238.4:c.617A>G
NP_001229.1:p.(Y206C)
VUS
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BRCA1 NM_007294.4:c.3260G>C
NP_009225.1:p.(G1087A)
Likely Benign
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BRCA1 NM_007294.4:c.3260G>C
NP_009225.1:p.(G1087A)
VUS
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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
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TP53 NM_000546.6:c.266_267del
NP_000537.3:p.(P89Lfs*59)
Likely Pathogenic
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ESR1 NM_001122740.1:c.1163T>A
NP_001116212.1:p.(M388K)
Likely Pathogenic
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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
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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
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NF1 NM_001042492.2:c.2190C>G
NP_001035957.1:p.(N730K)
VUS
View →
MET NM_001127500.2:c.3082G>C
NP_001120972.1:p.(D1028H)
VUS
View →
NTRK1 NM_002529.3:c.655G>A
NP_002520.2:p.(G219R)
VUS
View →
RAD51B NM_133509.4:c.82C>G
NP_598193.2:p.(Q28E)
VUS
View →
PTEN NM_000314.8:c.197_203del
NP_000305.3:p.(K66Tfs*31)
Likely Pathogenic
View →
DICER1 NM_177438.3:c.735-23A>G
NP_803187.1:p.?
Likely Benign
View →
MSH6 NM_000179.3:c.4002-16_4002-10del
NP_000170.1:p.?
VUS
View →
MLH1 NM_000249.4:c.1732-2A>G
NP_000240.1:p.?
Pathogenic
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FGFR3 NM_000142.4:c.1959C>T
NP_000133.1:p.(N653=)
VUS
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BRCA1 NM_007294.4:c.3260G>C
NP_009225.1:p.(G1087A)
VUS
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STK11 NM_000455.4:c.369G>A
NP_000446.1:p.(Q123=)
Benign
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HRAS NM_005343.4:c.7G>A
NP_005334.1:p.(E3K)
VUS
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CDK4 NM_000075.4:c.122A>G
NP_000066.1:p.(N41S)
VUS
View →
TSC2 NM_000548.4:c.5335del
NP_000539.2:p.(Q1779Rfs*47)
VUS
View →
FLT3 NM_004119.2:c.2515G>A
NP_004110.2:p.(D839N)
VUS
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CCND1 NM_053056.3:c.844G>A
NP_444284.1:p.(D282N)
VUS
View →
MYC NM_002467.6:c.221C>G
NP_002458.2:p.(P74R)
VUS
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NF2 NM_000268.3:c.778G>T
NP_000259.1:p.(E260*)
VUS
View →
KEAP1 NM_012289.4:c.1639G>A
NP_036421.2:p.(V547I)
VUS
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PIK3R1 NM_181523.2:c.1350_1374del
NP_852664.1:p.(H450Qfs*22)
Likely Pathogenic
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PIK3CA NM_006218.3:c.277C>T
NP_006209.2:p.(R93W)
VUS
View →
MYCN NM_005378.5:c.868A>G
NP_005369.2:p.(N290D)
VUS
View →
MSH6 NM_000179.2:c.3926C>A
NP_000170.1:p.(P1309Q)
VUS
View →
ATM NM_000051.3:c.1348G>T
NP_000042.3:p.(E450*)
Pathogenic
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FGFR2 NM_000141.4:c.2383G>A
NP_000132.3:p.(D795N)
VUS
View →
MSH6 NM_000179.2:c.2975A>G
NP_000170.1:p.(E992G)
VUS
View →
CDK4 NM_000075.3:c.803G>A
NP_000066.1:p.(G268E)
VUS
View →
PTCH1 NM_000264.5:c.2215_2216delinsTT
NP_000255.2:p.(H739F)
VUS
View →
ARID1A NM_006015.5:c.2297A>T
NP_006006.3:p.(Q766L)
VUS
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NOTCH3 NM_000435.2:c.3278G>T
NP_000426.2:p.(C1093F)
Likely Pathogenic
View →
PTEN NM_000314.6:c.95T>G
NP_000305.3:p.(I32S)
VUS
View →
DICER1 NM_177438.2:c.2536A>G
NP_803187.1:p.(I846V)
VUS
View →
MYCN NM_005378.5:c.368G>T
NP_005369.2:p.(R123L)
VUS
View →
TERT NM_198253.2:c.1812A>G
NP_937983.2:p.(A604=)
VUS
View →
PPM1D NM_003620.3:c.1570del
NP_003611.1:p.(Q524Kfs*15)
VUS
View →
RAD21 NM_006265.2:c.165A>G
NP_006256.1:p.(T55=)
Likely Benign
View →
PRPF8 NM_006445.3:c.3081A>T
NP_006436.3:p.(S1027=)
VUS
View →
TET2 NM_001127208.2:c.2193A>G
NP_001120680.1:p.(Q731=)
VUS
View →
SETBP1 NM_015559.2:c.575A>G
NP_056374.2:p.(H192R)
VUS
View →
PPM1D NM_003620.3:c.1260+4T>C
NP_003611.1:p.?
VUS
View →
KMT2A NM_005933.3:c.10244C>T
NP_005924.2:p.(P3415L)
VUS
View →
IDH2 NM_002168.2:c.374-10G>A
NP_002159.2:p.?
VUS
View →
BCORL1 NM_021946.4:c.1953C>T
NP_068765.3:p.(H651=)
VUS
View →
PHF6 NM_001015877.1:c.859G>C
NP_001015877.1:p.(G287R)
VUS
View →
KRAS NM_033360.2:c.57G>T
NP_203524.1:p.(L19F)
VUS
View →
TET2 NM_001127208.2:c.2119G>A
NP_001120680.1:p.(A707T)
VUS
View →
NF2 NM_000268.3:c.958C>T
NP_000259.1:p.(Q320*)
VUS
View →
CDKN2A NM_001195132.1:c.44_46dup
NP_001182061.1:p.(W15_L16insR)
VUS
View →
MET NM_001127500.3:c.1063G>A
NP_001120972.1:p.(E355K)
VUS
View →
RET NM_020975.5:c.2486G>A
NP_066124.1:p.(S829N)
VUS
View →
CCND1 NM_053056.3:c.839_841del
NP_444284.1:p.(E280del)
Likely Benign
View →
RAD51B NM_133509.4:c.171_173dup
NP_598193.2:p.(S57dup)
Likely Benign
View →
CREBBP NM_004380.2:c.7299C>A
NP_004371.2:p.(D2433E)
VUS
View →
CALR NM_004343.3:c.1066C>G
NP_004334.1:p.(Q356E)
VUS
View →
CALR NM_004343.3:c.1066C>G
NP_004334.1:p.(Q356E)
Not classified
View →
GALNT12 NM_024642.5:c.460C>T
NP_078918.3:p.(R154W)
VUS
View →
BCOR NM_017745.5:c.2265C>A
NP_060215.4:p.(Y755*)
Likely Pathogenic
View →
POLD1 NM_002691.4:c.2959del
NP_002682.2:p.(D987Tfs*58)
Likely Pathogenic
View →
ATM NM_000051.4:c.3332T>C
NP_000042.3:p.(L1111P)
VUS
View →
MSH6 NM_000179.3:c.2731C>T
NP_000170.1:p.(R911*)
Pathogenic
View →
ATM NM_000051.4:c.3332T>C
NP_000042.3:p.(L1111P)
VUS
View →
PRPF8 NM_006445.3:c.2013A>G
NP_006436.3:p.(T671=)
VUS
View →
BCOR NM_017745.5:c.3870_3871insC
NP_060215.4:p.(K1291Qfs*84)
Likely Pathogenic
View →
STAG2 NM_001042749.1:c.2431G>T
NP_001036214.1:p.(E811*)
VUS
View →
RUNX1 NM_001754.4:c.707dup
NP_001745.2:p.(M236Ifs*25)
Pathogenic
View →
RUNX1 NM_001754.4:c.560C>T
NP_001745.2:p.(A187V)
VUS
View →
NF1 NM_001042492.2:c.2544G>A
NP_001035957.1:p.(G848=)
Benign
View →
NF1 NM_001042492.2:c.2022C>T
NP_001035957.1:p.(S674=)
Benign
View →
CUX1 NM_001202543.1:c.2598_2606dup
NP_001189472.1:p.(S868_G870dup)
Benign
View →
KMT2A NM_005933.3:c.2040G>T
NP_005924.2:p.(S680=)
VUS
View →
DDX41 NM_016222.2:c.1479C>T
NP_057306.2:p.(S493=)
Likely Benign
View →
TERT NM_198253.2:c.2283C>T
NP_937983.2:p.(S761=)
VUS
View →
ATM NM_000051.4:c.3332T>C
NP_000042.3:p.(L1111P)
VUS
View →
ATM NM_000051.4:c.3332T>C
NP_000042.3:p.(L1111P)
VUS
View →
MSH2 NM_000251.3:c.2005+1G>A
NP_000242.1:p.?
Likely Pathogenic
View →
MLH1 NM_000249.4:c.1039-6dup
NP_000240.1:p.?
Benign
View →
MLH1 NM_000249.4:c.1039-6dup
NP_000240.1:p.?
VUS
View →