Search GLEAM-DB / CoGenEx-PM3
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Input query
Recognized gene
AARS1, AASS, ABAT, ABCB4, ABCG5 and 14 more
Normalized c.HGVS
c.*843C>T, c.1015T>G, c.1018C>T, c.1033G>C, c.1105G>A and 45 more
Normalized p.HGVS
p.(=), p.(Ala131Val), p.(Ala345Pro), p.(Arg1166His), p.(Arg124Trp) and 39 more
Matching records
3392
PM3-positive records
25
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| WDR62 |
NM_001083961.2:c.28G>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.189G>T; p.Glu63Asp
context: Confirmed in trans
|
27852057
Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2.
Oncotarget, 2016
|
Main article | |
| PMS2 |
NM_000535.7:c.2167C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
37306523
Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel.
Oncotarget, 2023
|
Supplementary material | |
| ATM |
NM_000051.4:c.6482G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.5188C>T; p.Arg1730*; stop_gained
context: Compound heterozygous candidate
|
32292574
Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.
Oncotarget, 2020
|
Supplementary material | |
| BRIP1 |
NM_032043.3:c.787C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1340C>A; p.Pro447Gln
context: Compound heterozygous candidate
|
31666926
Germline mutations in cancer-predisposition genes in patients with biliary tract cancer.
Oncotarget, 2019
|
Supplementary material | |
| DIS3L2 |
NM_152383.5:c.301G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
30344923
Genetic and epigenetic analyses guided by high resolution whole-genome SNP array reveals a possible role of CHEK2 in Wilms tumour susceptibility.
Oncotarget, 2018
|
Supplementary material | |
| ATM |
NM_000051.4:c.512A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.283C>A; p.Gln95Lys
context: Compound heterozygous candidate
|
30093976
Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.
Oncotarget, 2018
|
Supplementary material | |
| SLC25A13 |
NM_014251.3:c.2T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1452+1G>A; c.851_854del4
context: Compound heterozygous candidate
|
29152073
Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele.
Oncotarget, 2017
|
Main article | |
| ATM |
NM_000051.4:c.1874A>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.G1212T; c.G829T; p.E277X; +2 more
context: Compound heterozygous candidate
|
28978093
Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.
Oncotarget, 2017
|
Supplementary material | |
| ATM |
NM_000051.4:c.4525T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.G4898A; c.G6873A; c.T1866C; +3 more
context: Compound heterozygous candidate
|
28978093
Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.
Oncotarget, 2017
|
Supplementary material | |
| ATM |
NM_000051.4:c.6454G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.C5960T; c.G6058T; c.G6859A; +3 more
context: Compound heterozygous candidate
|
28978093
Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.
Oncotarget, 2017
|
Supplementary material | |
| ATM |
NM_000051.4:c.6859G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.G6058T; c.G6454A; c.G8072A; +3 more
context: Compound heterozygous candidate
|
28978093
Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.
Oncotarget, 2017
|
Supplementary material | |
| ATM |
NM_000051.4:c.9017C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.407delT; p.I136fs; frameshift deletion
context: Compound heterozygous candidate
|
28978093
Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.
Oncotarget, 2017
|
Supplementary material | |
| MLH1 |
NM_000249.4:c.1811A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.A1847G; c.C966T; c.G662A; +3 more
context: Compound heterozygous candidate
|
28978093
Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.
Oncotarget, 2017
|
Supplementary material | |
| MSH2 |
NM_000251.3:c.611G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.A1184G; c.A542G; c.G133A; +5 more
context: Compound heterozygous candidate
|
28978093
Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.
Oncotarget, 2017
|
Supplementary material | |
| ATM |
NM_000051.4:c.7382G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.Gly12Val
context: Compound heterozygous candidate
|
28199979
ATM mutations and E-cadherin expression define sensitivity to EGFR-targeted therapy in colorectal cancer.
Oncotarget, 2017
|
Main article | |
| MSH6 |
NM_000179.3:c.1522G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.C2354T; c.C2870T; c.C3260T; +3 more
context: Compound heterozygous candidate
|
28002797
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Oncotarget, 2017
|
Supplementary material | |
| MSH6 |
NM_000179.3:c.2013G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.C1451A; c.C1457A; c.C2101A; +5 more
context: Compound heterozygous candidate
|
28002797
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Oncotarget, 2017
|
Supplementary material | |
| MSH6 |
NM_000179.3:c.2532G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.G1849T; c.G2365T; c.G2755T; +4 more
context: Compound heterozygous candidate
|
28002797
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Oncotarget, 2017
|
Supplementary material | |
| MSH6 |
NM_000179.3:c.3614C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.G3556A; c.T3632C; p.G1186S; +1 more
context: Compound heterozygous candidate
|
28002797
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Oncotarget, 2017
|
Supplementary material | |
| MSH6 |
NM_000179.3:c.3730T>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.C2904A; c.C2950G; c.G2929A; +5 more
context: Compound heterozygous candidate
|
28002797
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Oncotarget, 2017
|
Supplementary material | |