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Recognized gene
ATP7B
Normalized c.HGVS
c.1036C>T, c.1049C>T, c.106A>T, c.111T>A, c.1127C>T and 44 more
Normalized p.HGVS
p.(Ala38Asp), p.(Ala399Thr), p.(Ala576Val), p.(Arg508Thr), p.(Asn687Ile) and 43 more
Matching records
478
PM3-positive records
26
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 |
|---|---|---|---|---|---|---|
| ATP7B |
NM_000053.4:c.1667T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3809A > G; Asn1270Ser
context: Compound heterozygous candidate
|
40438368
Hepatolenticular degeneration-induced hepatic dysfunction with extremely atypical clinical manifestations: a Case Report.
Frontiers in medicine, 2025
|
Main article | |
| ATP7B |
NM_000053.4:c.3671G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40104154
Evaluation of efficacy and safety of AAV8-ΔC4ATP7B gene therapy in a mutant mouse model of Wilson's disease.
Molecular therapy. Methods & clinical development, 2025
|
Supplementary material | |
| ATP7B |
NM_000053.4:c.1318A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3547-3548delGC; P.Ala1183TyrfsTer2; p.Ala1183TyrfsTer2; +2 more
context: Compound heterozygous candidate
|
39933775
Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.
Saudi medical journal, 2025
|
Main article | |
| ATP7B |
NM_000053.4:c.2715G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3547-3548delGC; p.Ala1183TyrfsTer2; Frameshift
context: Compound heterozygous candidate
|
39933775
Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.
Saudi medical journal, 2025
|
Main article | |
| ATP7B |
NM_000053.4:c.3892G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1616C>T; c.2507G>A; c.2530A>T; +3 more
context: Compound heterozygous candidate
|
39933775
Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.
Saudi medical journal, 2025
|
Main article | |
| ATP7B |
NM_000053.4:c.1829C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.Arg1224Leu
context: Compound heterozygous candidate
|
39846592
Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.
International journal of neonatal screening, 2025
|
Main article | |
| ATP7B |
NM_000053.4:c.3671G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.Pro610Leu
context: Compound heterozygous candidate
|
39846592
Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.
International journal of neonatal screening, 2025
|
Main article | |
| ATP7B |
NM_000053.4:c.98T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
39846592
Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.
International journal of neonatal screening, 2025
|
Main article | |
| ATP7B |
NM_000053.4:c.3845T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2333G>T
context: Compound heterozygous candidate
|
37681011
Novel mutations in ATP7B in Chinese patients with Wilson's disease and identification of kidney disorder of thinning of the glomerular basement membrane.
Frontiers in neurology, 2023
|
Main article | |
| ATP7B |
NM_000053.4:c.4277G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with A1003V
context: Compound heterozygous candidate
|
37660282
Wilson disease-causing mutations in the carboxyl terminus of ATP7B regulates its localization and Golgi exit selectively in the unpolarized cells.
Metallomics : integrated biometal science, 2023
|
Main article | |
| ATP7B |
NM_000053.4:c.20A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2121+3A > G; c.3532A > G
context: Compound heterozygous candidate
|
37020998
Clinical and genetic characterization of pediatric patients with Wilson's disease from Yunnan province where ethnic minorities gather.
Frontiers in genetics, 2023
|
Main article | |
| ATP7B |
NM_000053.4:c.98T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2224G>A; Val742Ile
context: Compound heterozygous candidate
|
36632541
New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease.
European journal of case reports in internal medicine, 2022
|
Main article | |
| ATP7B |
NM_000053.4:c.748G>A
|
Phase-unconfirmed biallelic evidence
Low confidence
|
Possible compound heterozygous with p.R778L
context: Compound heterozygous candidate
|
36253962
Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China.
Journal of clinical laboratory analysis, 2022
|
Main article | |
| ATP7B |
NM_000053.4:c.3426G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3443T > C; p.Ile1148Thr
context: Compound heterozygous candidate
|
35444691
Clinical and Genetic Analysis in Neurological Wilson's Disease Patients With Neurological Worsening Following Chelator Therapy.
Frontiers in genetics, 2022
|
Main article | |
| ATP7B |
NM_000053.4:c.3485C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
35287262
Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India.
Journal of movement disorders, 2022
|
Main article | |
| ATP7B |
NM_000053.4:c.3426G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3244-2A > G; c.3443T > C; p.I1148T
context: Compound heterozygous candidate
|
35222532
Early Diagnosis of Wilson's Disease in Children in Southern China by Using Common Parameters.
Frontiers in genetics, 2022
|
Main article | |
| ATP7B |
NM_000053.4:c.3061A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.M996T; p.N41S
context: Compound heterozygous candidate
|
33640437
Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.
Gastroenterology, 2021
|
Main article | |
| ATP7B |
NM_000053.4:c.994G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.D1047V
context: Compound heterozygous candidate
|
33640437
Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.
Gastroenterology, 2021
|
Main article | |
| ATP7B |
NM_000053.4:c.4277G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
32778786
Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.
Scientific reports, 2020
|
Main article | |
| ATP7B |
NM_000053.4:c.482T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2865+467A>G
context: Compound heterozygous candidate
|
32613181
Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?
JHEP reports : innovation in hepatology, 2020
|
Main article | |