Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
BRCA1, HGD, LRP5, MTHFR, NPC1 and 3 more
Normalized c.HGVS
c.1001G>C, c.1010G>A, c.1039G>A, c.1067C>T, c.1115G>A and 44 more
Normalized p.HGVS
p.(Ala1018Thr), p.(Ala19Asp), p.(Ala449Val), p.(Ala521Thr), p.(Ala659Val) and 42 more
Matching records
19812
PM3-positive records
128
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 |
|---|---|---|---|---|---|---|
| PLG |
NM_000301.5:c.2134G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.112 A>G; p.Lys38Glu
context: Confirmed in trans
|
27976734
The Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic Disease.
Scientific reports, 2016
|
Main article | |
| C2CD3 |
NM_001286577.2:c.3223A>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.5653 T > C; p.S1885P
context: Confirmed in trans
|
27863505
A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease.
Human genomics, 2016
|
Main article | |
| 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 | |
| FANCD2 |
NM_001018115.3:c.2094CCT[1]
|
Phase-confirmed PM3 evidence
Not assessed
|
PM3 evidence identified; partner variant not structured
context: Confirmed in trans
|
27642530
Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies.
Case reports in obstetrics and gynecology, 2016
|
Main article | |
| SUCLG1 |
NM_003849.4:c.635A>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.40A>T; p.M14L; p.Met14Leu
context: Confirmed in trans
|
27484306
Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.
Molecular genetics and metabolism, 2016
|
Main article | |
| NPHP1 |
NM_001128178.3:c.1589G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.922 T > C; p.Ser308Pro
context: Confirmed in trans
|
27004562
Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report.
BMC pediatrics, 2016
|
Main article | |
| BRAT1 |
NM_152743.4:c.1564G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.638dup; p.Val214Glyfs*189
context: Confirmed in trans
|
26947546
Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2016
|
Main article | |
| MOGS |
NM_006302.3:c.65C>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.329G>A; c.370C>T; p.Arg110His; +1 more
context: Confirmed in trans
|
26805780
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.
American journal of human genetics, 2016
|
Main article | |
| FANCI |
NM_001113378.2:c.1039T>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1201_1201delG; p.Gly401Glufs; p.Gly401Glufs*3
context: Confirmed in trans
|
26590883
Novel FANCI mutations in Fanconi anemia with VACTERL association.
American journal of medical genetics. Part A, 2016
|
Main article | |
| PIGN |
NM_176787.5:c.709G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.2411_2412delT AinsAG; c.2411_2412delTAinsAG; I804K
context: Confirmed in trans
|
26394714
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
American journal of medical genetics. Part A, 2016
|
Main article | |
| PEX12 |
NM_000286.3:c.-26G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
29152457
Peroxisome biogenesis disorders.
Translational science of rare diseases, 2016
|
Main article | |
| PEX6 |
NM_000287.4:c.2534T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2094+2T>C; c.2426C>T; A809V
context: Compound heterozygous candidate
|
29152457
Peroxisome biogenesis disorders.
Translational science of rare diseases, 2016
|
Main article | |
| BBS2 |
NM_031885.5:c.334T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
28005958
Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.
PloS one, 2016
|
Main article | |
| CERKL |
NM_201548.5:c.365T>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
27898983
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Investigative ophthalmology & visual science, 2016
|
Main article | |
| GALNT3 |
NM_004482.4:c.539G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with 659T-A; c.659T>A; I220N; +1 more
context: Compound heterozygous candidate
|
27867679
Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis.
Bone research, 2016
|
Main article | |
| RYR1 |
NM_000540.3:c.11314C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with E989G; H283R
context: Compound heterozygous candidate
|
27855725
Review of RyR1 pathway and associated pathomechanisms.
Acta neuropathologica communications, 2016
|
Main article | |
| RYR1 |
NM_000540.3:c.2966A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with R3772W
context: Compound heterozygous candidate
|
27855725
Review of RyR1 pathway and associated pathomechanisms.
Acta neuropathologica communications, 2016
|
Main article | |
| TTN |
NM_001267550.2:c.106154A>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.45599C>G; p.Ala15200Gly
context: Compound heterozygous candidate
|
27854229
Increasing Role of Titin Mutations in Neuromuscular Disorders.
Journal of neuromuscular diseases, 2016
|
Main article | |
| TTN |
NM_001267550.2:c.39201_39203dup
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
27854229
Increasing Role of Titin Mutations in Neuromuscular Disorders.
Journal of neuromuscular diseases, 2016
|
Main article | |
| TTN |
NM_001267550.2:c.92167C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with FINmaj
context: Compound heterozygous candidate
|
27854229
Increasing Role of Titin Mutations in Neuromuscular Disorders.
Journal of neuromuscular diseases, 2016
|
Main article | |