Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
ACE, AP3D1, AP4B1, ATM, BBS7 and 28 more
Normalized c.HGVS
c.1177G>A, c.1193C>T, c.11C>T, c.121C>T, c.1225C>A and 45 more
Normalized p.HGVS
p.(=), p.(Ala4Val), p.(Arg147Gln), p.(Arg189His), p.(Arg2023Cys) and 45 more
Matching records
447
PM3-positive records
19
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 |
|---|---|---|---|---|---|---|
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1063C > T; p.Arg355Stop; p.R355X
context: Confirmed in trans
|
20827438
Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations.
Case reports in medicine, 2010
|
Main article | |
| HSD17B4 |
NM_000414.4:c.650A>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1704T>A; Y568stop; p.Y568X
context: Confirmed in trans
|
20673864
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.
American journal of human genetics, 2010
|
Main article | |
| PKHD1 |
NM_138694.4:c.874A>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.6317T>G; c.9788T>C; p.Leu2106Arg; +1 more
context: Confirmed in trans
|
19914852
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Molecular genetics and metabolism, 2010
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with F190L; Ter@223
context: Compound heterozygous candidate
|
21031026
MYOC and FOXC1 gene analysis in primary congenital glaucoma.
Molecular vision, 2010
|
Main article | |
| SEC23B |
NM_006363.6:c.1254T>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
20941788
Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.
American journal of hematology, 2010
|
Main article | |
| NDUFS2 |
NM_001377299.1:c.998G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.413G>A; p.R138Q
context: Compound heterozygous candidate
|
20819849
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.
Brain : a journal of neurology, 2010
|
Main article | |
| PHYH |
NM_006214.4:c.986G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
20818383
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Nature genetics, 2010
|
Supplementary material | |
| WDR62 |
NM_001083961.2:c.1576G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
20729831
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.
Nature, 2010
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with w
context: Compound heterozygous candidate
|
20664688
Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.
Molecular vision, 2010
|
Main article | |
| BUB1B |
NM_001211.6:c.464A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 731X
context: Compound heterozygous candidate
|
20516114
Molecular causes for BUBR1 dysfunction in the human cancer predisposition syndrome mosaic variegated aneuploidy.
Cancer research, 2010
|
Main article | |
| PCDH15 |
NM_001384140.1:c.1339G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
20352026
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
Molecular vision, 2010
|
Main article | |
| ASL |
NM_000048.4:c.496C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
20298553
Novel mutations underlying argininosuccinic aciduria in Saudi Arabia.
BMC research notes, 2010
|
Main article | |
| GNPTG |
NM_032520.5:c.74C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
20147709
Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.
The New England journal of medicine, 2010
|
Main article | |
| TRIM32 |
NM_012210.4:c.1361T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
20142850
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.
Molecular vision, 2010
|
Main article | |
| COL6A2 |
NM_001849.4:c.1870G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
20106987
Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.
The Journal of biological chemistry, 2010
|
Main article | |
| GYS2 |
NM_021957.4:c.1334C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with R246X; new frameshift mutation comprised of a 2 bp deletion and a 1 bp insertion which introduced a stop codon 21 aminoacids downstream from the site of the mutation (aminoacid 343)
context: Confirmed in trans
|
20051115
A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0.
BMC medical genetics, 2010
|
Main article | |
| PKHD1 |
NM_138694.4:c.5585C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.11525G>T; c.7544delC; p.Ala2515fs; +1 more
context: Compound heterozygous candidate
|
19914852
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Molecular genetics and metabolism, 2010
|
Main article | |
| BBS7 |
NM_176824.3:c.1786G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
19797195
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.
Journal of medical genetics, 2010
|
Main article | |
| GNPTAB |
NM_024312.5:c.229GTT[1]
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Possible compound heterozygous with MS mutation in GNPTAB exon 12
context: Compound heterozygous candidate
|
19617216
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
Journal of medical genetics, 2010
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
22737338
Myocilin mutations are not a major cause of primary congenital glaucoma in Iranian patients.
Journal of ophthalmic & vision research, 2010
|
Main article | |