Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
ATM, BRCA1, BRCA2, COL9A3, DNAH8 and 15 more
Normalized c.HGVS
c.1001C>G, c.1013G>A, c.1070A>G, c.1118G>A, c.1150C>T and 45 more
Normalized p.HGVS
p.(Ala3Val), p.(Arg118Leu), p.(Arg1835Pro), p.(Arg184Cys), p.(Arg18Leu) and 41 more
Matching records
929
PM3-positive records
38
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 |
|---|---|---|---|---|---|---|
| KCNQ1 |
NM_000218.3:c.574C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1032G>A; Ala344Alasp; p.Ala344Alasp
context: Confirmed in trans
|
22629021
Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome.
Journal of cardiovascular disease research, 2012
|
Main article | |
| CDH23 |
NM_022124.6:c.902G>A
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with p.P240L
context: Confirmed in trans
|
22443853
Patients with CDH23 mutations and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS).
Acta oto-laryngologica, 2012
|
Main article | |
| ATM |
NM_000051.4:c.8672G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1A>G
context: Confirmed in trans
|
22146522
Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.
British journal of cancer, 2012
|
Main article | |
| ABCA4 |
NM_000350.3:c.3610G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
24409374
Functional Analysis of Retinal Flecks in Stargardt Disease.
Journal of clinical & experimental ophthalmology, 2012
|
Main article | |
| KCNQ1 |
NM_000218.3:c.217C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
23098067
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
BMC cardiovascular disorders, 2012
|
Main article | |
| SMARCAL1 |
NM_014140.4:c.1427G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
22998683
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
Orphanet journal of rare diseases, 2012
|
Main article | |
| SDHA |
NM_004168.4:c.1526C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.1523C>T; p.Thr508Ile
context: Confirmed in trans
|
22972948
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
Journal of medical genetics, 2012
|
Main article | |
| PINK1 |
NM_032409.3:c.1573G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with W577R
context: Compound heterozygous candidate
|
22952635
Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.
PloS one, 2012
|
Main article | |
| EIF2B5 |
NM_003907.3:c.1153A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.Tyr343Cys
context: Compound heterozygous candidate
|
22952606
CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations.
PloS one, 2012
|
Main article | |
| CDH23 |
NM_022124.6:c.4103C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.P240L
context: Compound heterozygous candidate
|
22899989
Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.
PloS one, 2012
|
Main article | |
| CDH23 |
NM_022124.6:c.902G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.719C>T; p.P240L
context: Compound heterozygous candidate
|
22899989
Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.
PloS one, 2012
|
Main article | |
| ZNF423 |
NM_001379286.1:c.2762C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
22863007
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Cell, 2012
|
Main article | |
| NPHP4 |
NM_015102.5:c.2021G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 565C→T; R189*
context: Compound heterozygous candidate
|
22773737
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
Journal of medical genetics, 2012
|
Main article | |
| PINK1 |
NM_032409.3:c.1573G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with W577R
context: Compound heterozygous candidate
|
22764206
Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease.
Science translational medicine, 2012
|
Main article | |
| ANO5 |
NM_213599.3:c.1609T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.220C>T; p.Arg74X
context: Compound heterozygous candidate
|
22742934
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients.
Neuromuscular disorders : NMD, 2012
|
Main article | |
| EIF2B5 |
NM_003907.3:c.1153A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1028A>G
context: Compound heterozygous candidate
|
22737209
Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.
PloS one, 2012
|
Main article | |
| NPC1 |
NM_000271.5:c.2509A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with A470P
context: Compound heterozygous candidate
|
22676771
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
Orphanet journal of rare diseases, 2012
|
Main article | |
| MCCC1 |
NM_020166.5:c.559T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1155A>C; p.R385S
context: Compound heterozygous candidate
|
22642865
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Orphanet journal of rare diseases, 2012
|
Main article | |
| MCCC2 |
NM_022132.5:c.116C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
22642865
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Orphanet journal of rare diseases, 2012
|
Main article | |
| CYP4V2 |
NM_207352.4:c.1372G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
22605929
Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation.
Molecular vision, 2012
|
Main article | |