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Recognized gene
A4GALT, AARS1
Normalized c.HGVS
c.*521C>T, c.*843C>T, c.1003G>A, c.1004G>A, c.1124T>G and 44 more
Normalized p.HGVS
p.(=), p.(Ala335Thr), p.(Ala614Pro), p.(Ala614Ser), p.(Arg124Trp) and 21 more
Matching records
19871
PM3-positive records
184
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.2411T>C
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with c.709 G>A; G273R
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 | |
| 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 | |
| HSD11B2 |
NM_000196.4:c.1010G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
29067160
Case Report: Application of whole exome sequencing for accurate diagnosis of rare syndromes of mineralocorticoid excess.
F1000Research, 2016
|
Main article | |
| BRCA1 |
NM_007294.4:c.5363G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.5359T>A; C1787S; p.C1787S
context: Compound heterozygous candidate
|
28781887
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.
NPJ genomic medicine, 2016
|
Supplementary material | |
| AGL |
NM_000642.3:c.4076G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
28007035
Sacral agenesis: a pilot whole exome sequencing and copy number study.
BMC medical genetics, 2016
|
Supplementary material | |
| CR2 |
NM_001006658.3:c.3187C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
28007035
Sacral agenesis: a pilot whole exome sequencing and copy number study.
BMC medical genetics, 2016
|
Supplementary material | |
| CDH23 |
NM_022124.6:c.5363C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
28007035
Sacral agenesis: a pilot whole exome sequencing and copy number study.
BMC medical genetics, 2016
|
Supplementary material | |
| GFM2 |
NM_032380.5:c.1984T>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
28007035
Sacral agenesis: a pilot whole exome sequencing and copy number study.
BMC medical genetics, 2016
|
Supplementary material | |
| PMS2 |
NM_000535.7:c.1484G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
28007021
Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.
Genome medicine, 2016
|
Main article | |