Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
A4GALT, AARS1, AARS2, AASS, ABAT and 1 more
Normalized c.HGVS
c.*843C>T, c.-43C>T, c.109G>A, c.1182G>A (p.Met394Ile), c.1183C>T and 45 more
Normalized p.HGVS
p.(=), p.(Ala226Val), p.(Ala614Pro), p.(Ala614Ser), p.(Ala631Thr) and 33 more
Matching records
11832
PM3-positive records
249
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 | |
| KCNJ1 |
NM_153766.3:c.197T>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.875G > A; Arg292Gln; p.R292Q
context: Confirmed in trans
|
28979772
Late-onset Bartter syndrome type II.
Clinical kidney journal, 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 | |
| MVK |
NM_000431.4:c.151C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1027C > T; p.L343P
context: Confirmed in trans
|
28603204
[A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis].
Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology, 2017
|
Main article | |
| FGD4 |
NM_001370298.3:c.1715G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1192‐48_1233del; p.(?); 90 bp deletion
context: Confirmed in trans
|
28543957
A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease.
Journal of the peripheral nervous system : JPNS, 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 | |
| SZT2 |
NM_001365999.1:c.8471G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with p.P2844L
context: Confirmed in trans
|
28180185
Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.
Neurology. Genetics, 2017
|
Supplementary material | |
| ATP7B |
NM_000053.4:c.2921C>T
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with p.Ser391 Leu; p.Ser391Leu
context: Confirmed in trans
|
27935710
Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease.
Journal of proteome research, 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 | |
| ADAMTS13 |
NM_139027.6:c.2089G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.1874G>A; c.762_774del12pb; p.Arg625His; +2 more
context: Compound heterozygous candidate
|
30046676
Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.
Research and practice in thrombosis and haemostasis, 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 | |
| PALB2 |
NM_024675.4:c.3428T>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 | |
| COQ2 |
NM_001358921.2:c.572T>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.568A>T; c.693-2A>G; c.693-4_693delTCAGT; +3 more
context: Compound heterozygous candidate
|
29255295
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Scientific reports, 2017
|
Supplementary material | |
| COQ2 |
NM_001358921.2:c.676G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.228_249delCCGCTCCTTCGCCCTGGCGCGT; c.375_376insAG; c.779-3_779delTAGG; +2 more
context: Compound heterozygous candidate
|
29255295
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Scientific reports, 2017
|
Supplementary material | |
| PDSS1 |
NM_014317.5:c.1138G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.300G>A; c.336+1G>A; c.409C>T; +2 more
context: Compound heterozygous candidate
|
29255295
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Scientific reports, 2017
|
Supplementary material | |