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Pathogenic
Pathogenic
Pathogenic, Likely Pathogenic, VUS
All mutations
Pathogenic, Likely Pathogenic, VUS or gMAX,eMAX<1% and is not intron|intergenic
All variants
Not intron or intergenic
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Gene
hg19
Transcript
cDNA
Protein
Function
Localization
Pathogenicity
Frequency in gnomAD
gMAX
Project
frequency
Exomes
frequency
BRCA1
chr17:41245210 G>A
NM_007294.3
c.2338C>T
p.Q780X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
ATM
chr11:108203492 C>T
NM_000051.3
c.7792C>T
p.R2598X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32914366 T>A
NM_000059.3
c.5874T>A
p.C1958X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41243584 T>A
NM_007294.3
c.3964A>T
p.K1322X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32954272 GA>G
NM_000059.3
c.9247delA
p.K3083fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
MSH6
chr2:48018201 GT>G
NM_000179.2
c.397delT
p.F133fs
frameshift del
exon
Likely pathogenic
–
0.0002
1/4852
–
PMS2
chr7:6026495 T>C
NM_000535.6
c.1901A>G
p.H634R
missense
exon
VUS
–
0.0002
1/4852
–
BRCA2
chr13:32950854 C>T
NM_000059.3
c.8680C>T
p.Q2894X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41245861 G>A
NM_007294.3
c.1687C>T
p.Q563X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32929413 G>T
NM_000059.3
c.7423G>T
p.E2475X
stop gain
exon
Likely pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32914437 GT>G
NM_000059.3
c.5946delT
p.S1982fs
frameshift del
exon
Pathogenic
0.0002
NFE
0.0002
1/4852
–
BRIP1
chr17:59937230 CAACA>C
NM_032043.2
c.128_131del
p.L43fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
TP53
chr17:7577120 C>T
NM_000546.5
c.818G>A
p.R273H
missense
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32913729 C>CT
NM_000059.3
c.5238dupT
p.S1746fs
frameshift ins
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41243514 T>TC
NM_007294.3
c.4033dupG
p.E1345fs
frameshift ins
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41245261 ATC>A
NM_007294.3
c.2285_2286del
p.R762fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32914953 ATC>A
NM_000059.3
c.6462_6463del
p.Y2154fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32937671 G>A
NM_000059.3
c.8331+1G>A
splicing
splice site
Likely pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32912811 AAG>A
NM_000059.3
c.4320_4321del
p.K1440fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
TP53
chr17:7578190 T>C
NM_000546.5
c.659A>G
p.Y220C
missense
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32968951 C>T
NM_000059.3
c.9382C>T
p.R3128X
stop gain
exon
Pathogenic
0.0002
AFR
0.0002
1/4852
–
BRCA1
chr17:41276111 CATTT>C
NM_007294.3
c.-2_2delAAAT
p.Met1fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
TP53
chr17:7577548 C>T
NM_000546.5
c.733G>A
p.G245S
missense
exon
Pathogenic
0.0001
AFR
0.0002
1/4852
–
BRCA1
chr17:41201183 AC>A
NM_007294.4
c.5360del
p.Cys1787Leufs*6
frameshift
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32944641 G>T
NM_000059.3
c.8434G>T
p.G2812X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32900288 G>T
NM_000059.3
c.475+1G>T
splicing
splice site
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41244976 G>A
NM_007294.3
c.2572C>T
p.Q858X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32929238 TCA>T
NM_000059.3
c.7249_7250del
p.H2417fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
CHEK2
chr22:29121019 G>A
NM_007194.4
c.538C>T
p.Arg180Cys
missense
exon
VUS
0.0012
EAS
0.0002
1/4852
–
BRCA1
chr17:41219642 TG>T
NM_007294.3
c.5056delC
p.H1686fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
ATM
chr11:108175401 G>A
NM_000051.3
c.5497-1G>A
splicing
splice site
Pathogenic
–
0.0002
1/4852
–
PMS2
chr7:6026731 CT>C
NM_000535.6
c.1664delA
p.Q555fs
frameshift del
exon
Likely pathogenic
–
0.0002
1/4852
–
ATM
chr11:108129801 T>A
NM_000051.3
c.2465T>A
p.L822X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41215920 G>A
NM_007294.4
c.5123C>T
p.Ala1708Val
missense
exon
VUS
0.0001
AFR
0.0002
1/4852
–
PALB2
chr16:23625398 C>G
NM_024675.3
c.3128G>C
p.G1043A
missense
exon
VUS
–
0.0002
1/4852
–
BRCA1
chr17:41244865 GTTTC>G
NM_007294.4
c.2679_2682del
p.Lys893Asnfs*106
frameshift
exon
Pathogenic
–
0.0002
1/4852
–
BRCA1
chr17:41246531 C>CT
NM_007294.3
c.1016dupA
p.K339fs
frameshift ins
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32913684 ATC>A
NM_000059.3
c.5193_5194del
p.H1731fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32913771 C>G
NM_000059.3
c.5279C>G
p.S1760X
stop gain
exon
Pathogenic
–
0.0002
1/4852
–
ATM
chr11:108155007 AG>A
NM_000051.3
c.3801delG
p.E1267fs
frameshift del
exon
Pathogenic
0.00006669
NFE
0.0002
1/4852
–
BRCA2
chr13:32930636 GTCTTTCCACA>G
NM_000059.3
c.7508_7517del
p.V2503fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
BRCA2
chr13:32907420 GA>G
NM_000059.3
c.1806delA
p.G602fs
frameshift del
exon
Pathogenic
–
0.0002
1/4852
–
CHEK2
chr22:29091797 G>C
NM_007194.3
c.1160C>G
p.T387S
missense
exon
VUS
0.0000666
NFE
0.0002
1/4852
–
BRCA1
chr17:41234420 C>A
NM_007294.3
c.4357+1G>T
splicing
splice site
Pathogenic
–
0.0002
1/4852
–
No matches