Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
ABCA3, ACE, AHI1, ALPL, APOL1 and 38 more
Normalized c.HGVS
c.1001C>T, c.1060C>T, c.1181C>G, c.1205A>G, c.1220G>A and 45 more
Normalized p.HGVS
p.(=), p.(Ala1307Thr), p.(Ala394Gly), p.(Ala5Glu), p.(Ala788Asp) and 45 more
Matching records
11783
PM3-positive records
146
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 |
|---|---|---|---|---|---|---|
| DCHS1 |
NM_003737.4:c.7001C>T
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with p.P197L
context: Confirmed in trans
|
29046692
A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia.
International journal of pediatric endocrinology, 2017
|
Main article | |
| TMEM67 |
NM_153704.6:c.641A>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.622A>T; p.(Arg208Ter)
context: Confirmed in trans
|
28680603
Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype-phenotype relationship.
Clinical case reports, 2017
|
Main article | |
| CYB5R3 |
NM_000398.7:c.775C>T
|
Phase-confirmed PM3 evidence
High confidence
|
PM3 evidence identified; partner variant not structured
context: Confirmed in trans
|
28195434
A patient with both methemoglobinemia and G6PD deficiency: A therapeutic conundrum.
American journal of hematology, 2017
|
Main article | |
| EARS2 |
NM_001083614.2:c.184A>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1>G; p.Met1?
context: Confirmed in trans
|
27571996
Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.
JIMD reports, 2017
|
Main article | |
| F7 |
NM_019616.4:c.1058G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with IVS7+7A>G; g.9733A>G
context: Compound heterozygous candidate
|
29876229
Molecular Characterization of Iranian Patients with Inherited Coagulation Factor VII Deficiency.
Balkan journal of medical genetics : BJMG, 2017
|
Main article | |
| PALB2 |
NM_024675.4:c.104T>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with truncating mutation
context: Compound heterozygous candidate
|
29387807
Perturbation of PALB2 function by the T413S mutation found in small cell lung cancer.
Wellcome open research, 2017
|
Main article | |
| RPGRIP1L |
NM_015272.5:c.2952G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.196C>A; c.685G>A; p.Ala229Thr; +1 more
context: Compound heterozygous candidate
|
29343940
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Clinical ophthalmology (Auckland, N.Z.), 2017
|
Main article | |
| RPGRIP1L |
NM_015272.5:c.628A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.171G>T; p.Leu57Phe
context: Compound heterozygous candidate
|
29343940
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Clinical ophthalmology (Auckland, N.Z.), 2017
|
Main article | |
| B3GALNT2 |
NM_152490.5:c.802G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
29273094
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.
Genome medicine, 2017
|
Main article | |
| TTN |
NM_001267550.2:c.104575C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.68770G>A; p.A22924T
context: Compound heterozygous candidate
|
29263846
Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome.
NPJ genomic medicine, 2017
|
Main article | |
| TTN |
NM_001267550.2:c.106403T>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.101774_101776 dupAAG; c.74305A>G; p.Asn24769Asp; +2 more
context: Compound heterozygous candidate
|
29253866
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.
PloS one, 2017
|
Supplementary material | |
| GBA2 |
NM_020944.3:c.2240G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
29234271
The Enigmatic Role of GBA2 in Controlling Locomotor Function.
Frontiers in molecular neuroscience, 2017
|
Main article | |
| LRPPRC |
NM_133259.4:c.3430C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3130C>T; c.4078G>A; p.Ala1360Thr; +1 more
context: Compound heterozygous candidate
|
29152527
Novel LRPPRC Mutation in a Boy With Mild Leigh Syndrome, French-Canadian Type Outside of Québec.
Child neurology open, 2017
|
Main article | |
| SLC25A13 |
NM_014251.3:c.2T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1452+1G>A; c.851_854del4
context: Compound heterozygous candidate
|
29152073
Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele.
Oncotarget, 2017
|
Main article | |
| CAPN3 |
NM_000070.3:c.998G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2176G > T; p.Ala726Ser
context: Compound heterozygous candidate
|
29149851
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
Orphanet journal of rare diseases, 2017
|
Main article | |
| PYGM |
NM_005609.4:c.1727G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.148C > T; p.R50X
context: Compound heterozygous candidate
|
29143597
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
BMC genomics, 2017
|
Main article | |
| PYGM |
NM_005609.4:c.208C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.403G > A; p.G135R
context: Compound heterozygous candidate
|
29143597
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
BMC genomics, 2017
|
Main article | |
| PYGM |
NM_005609.4:c.527A>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.148C > T; p.R50X
context: Compound heterozygous candidate
|
29143597
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
BMC genomics, 2017
|
Main article | |
| NDUFS2 |
NM_001377299.1:c.998G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
29142257
Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.
Scientific reports, 2017
|
Main article | |
| GBA1 |
NM_000157.4:c.1495G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
29124790
Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.
Movement disorders : official journal of the Movement Disorder Society, 2017
|
Main article | |