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Recognized gene
ATP7B
Normalized c.HGVS
c.1036C>T, c.113C>A, c.1162C>G, c.1186G>A, c.1216T>A and 44 more
Normalized p.HGVS
p.(Ala1168Ser), p.(Ala1168Thr), p.(Ala1250Gly), p.(Ala1443Thr), p.(Ala38Asp) and 43 more
Matching records
506
PM3-positive records
39
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.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 | |
| ATP7B |
NM_000053.4:c.3325G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40661833
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.
Human mutation, 2025
|
Main article | |
| 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>A
|
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.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.482T>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.Leu1015=
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.3955C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with A1183G
context: Compound heterozygous candidate
|
35885998
Different Response Behavior to Therapeutic Approaches in Homozygotic Wilson's Disease Twins with Clinical Phenotypic Variability: Case Report and Literature Review.
Genes, 2022
|
Main article | |
| ATP7B |
NM_000053.4:c.1036C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
35637795
A Custom-Made Newborn Screening Test for Wilson's Disease in Puerto Rico.
Cureus, 2022
|
Main article | |
| ATP7B |
NM_000053.4:c.98T>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
35637795
A Custom-Made Newborn Screening Test for Wilson's Disease in Puerto Rico.
Cureus, 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 | |