Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
AARS1, ABCA3, ABCA4, ABCB4, ABCD4 and 22 more
Normalized c.HGVS
c.*114C>T, c.10016G>A, c.1009C>A, c.1238T>C (p.Val413Ala), c.1336G>A and 42 more
Normalized p.HGVS
p.(=), p.(Ala164Thr), p.(Arg106Lys), p.(Arg122Gln), p.(Arg21Gly) and 34 more
Matching records
990
PM3-positive records
57
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 | |
| BRIP1 |
NM_032043.3:c.2301G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
23285130
Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges.
PloS one, 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 | |
| JAK3 |
NM_000215.4:c.2222G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with F110fs
context: Compound heterozygous candidate
|
23000897
Comprehensive molecular portraits of human breast tumours.
Nature, 2012
|
Supplementary material | |
| 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 | |
| SMARCAL1 |
NM_014140.4:c.2321C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.[1191delG]; c.[1736C>T]; c.[1920_1921insG]; +2 more
context: Compound heterozygous candidate
|
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.1522A>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Confirmed in trans with c.1526C>T; p.Ser509Leu
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 | |
| 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
High confidence
|
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 | |