An
Autosomal recessive
mode(s) within the
Metabolic disorders
category
Conflicting classifications of pathogenicity
2
Likely pathogenic
12
Pathogenic
3
Pathogenic/Likely pathogenic
7
Uncertain significance
14
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000053.4(ATP7B):c.1544-5T>C | Single nucleotide variant | Chr13:51968612 | Uncertain significance | Intron variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.2210C>G (p.Thr737Arg) | Single nucleotide variant | Chr13:51958456 | Uncertain significance | Missense variant|intron variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.2355+3A>G | Single nucleotide variant | Chr13:51958308 | Uncertain significance | Intron variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.700_701delinsTGA (p.Arg234Ter) | Indel | Chr13:51974519 - 51974520 | Likely pathogenic | Nonsense |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.51+1G>C | Single nucleotide variant | Chr13:52011286 | Likely pathogenic | Splice donor variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.4258_4264del (p.Asp1420fs) | Deletion | Chr13:51934890 - 51934896 | Likely pathogenic | Frameshift variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.4174del (p.His1391_Met1392insTer) | Deletion | Chr13:51934980 | Likely pathogenic | Nonsense |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.3023TCA[1] (p.Ile1009del) | Microsatellite | Chr13:51946316 - 51946318 | Uncertain significance | Inframe_deletion|intron variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.3467_3468del (p.Arg1156fs) | Microsatellite | Chr13:51941169 - 51941170 | Likely pathogenic | Frameshift variant|intron variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.3700dup | Duplication | Chr13:51937678 - 51937679 | Likely pathogenic | Splice acceptor variant|intron variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.3745del (p.Val1249fs) | Deletion | Chr13:51937634 | Likely pathogenic | Frameshift variant|intron variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.2993G>A (p.Gly998Asp) | Single nucleotide variant | Chr13:51946351 | Likely pathogenic | Missense variant|intron variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.2944G>C (p.Ala982Pro) | Single nucleotide variant | Chr13:51946400 | Uncertain significance | Missense variant|intron variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.1124A>G (p.His375Arg) | Single nucleotide variant | Chr13:51974096 | Uncertain significance | Missense variant|intron variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.2951C>T (p.Pro984Leu) | Single nucleotide variant | Chr13:51946393 | Uncertain significance | Missense variant|intron variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.3626T>C (p.Leu1209Pro) | Single nucleotide variant | Chr13:51939124 | Uncertain significance | Missense variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.3601G>A (p.Glu1201Lys) | Single nucleotide variant | Chr13:51939149 | Uncertain significance | Missense variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.2312_2313del (p.Phe771fs) | Deletion | Chr13:51958353 - 51958354 | Likely pathogenic | Frameshift variant|intron variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.4112_4114del (p.Leu1371del) | Deletion | Chr13:51935603 - 51935605 | Uncertain significance |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
||
| NM_000053.4(ATP7B):c.3188C>G (p.Ala1063Gly) | Single nucleotide variant | Chr13:51944164 | Likely pathogenic | Missense variant|intron variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.3557-8C>A | Single nucleotide variant | Chr13:51939201 | Uncertain significance | Intron variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.2339T>C (p.Leu780Pro) | Single nucleotide variant | Chr13:51958327 | Uncertain significance | Missense variant|intron variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.2522T>G (p.Val841Gly) | Single nucleotide variant | Chr13:51950325 | Uncertain significance | Missense variant|intron variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.2072G>A (p.Gly691Glu) | Single nucleotide variant | Chr13:51960197 | Uncertain significance | Missense variant|intron variant |
.Dr. Moinak Lab, Sanjay Gandhi Postgraduate Institute of Medical Sciences |
|
| NM_000053.4(ATP7B):c.2668G>T (p.Val890Leu) | Single nucleotide variant | Chr13:51950069 | Likely pathogenic | Missense variant | rs786204718 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000053.4(ATP7B):c.3550dup (p.Ile1184fs) | Duplication | Chr13:51941086 - 51941087 | Likely pathogenic | Frameshift variant|intron variant | rs2547599465 |
.Lifecell International Pvt. Ltd |
| NM_000053.4(ATP7B):c.1963del (p.Leu655fs) | Deletion | Chr13:51960306 | Pathogenic/Likely pathogenic | Frameshift variant|intron variant | rs2139612433 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000053.4(ATP7B):c.2866-2del | Deletion | Chr13:51946480 | Pathogenic/Likely pathogenic | Splice acceptor variant|intron variant | rs1593681941 | |
| NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) | Single nucleotide variant | Chr13:51958521 | Conflicting classifications of pathogenicity | Synonymous variant|intron variant | rs751202110 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) | Single nucleotide variant | Chr13:51941191 | Pathogenic/Likely pathogenic | Missense variant | rs1566462533 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) | Single nucleotide variant | Chr13:51942493 | Pathogenic/Likely pathogenic | Missense variant | rs560952220 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000053.4(ATP7B):c.3243+5G>A | Single nucleotide variant | Chr13:51944104 | Conflicting classifications of pathogenicity | Intron variant | rs373193482 | |
| NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu) | Single nucleotide variant | Chr13:51944170 | Pathogenic | Missense variant | rs764131178 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) | Single nucleotide variant | Chr13:51974407 | Pathogenic/Likely pathogenic | Nonsense|intron variant | rs572147914 |
.Neuberg Centre For Genomic Medicine, NCGM .Suma Genomics |
| NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) | Single nucleotide variant | Chr13:51957580 | Pathogenic/Likely pathogenic | Missense variant | rs751710854 |
.Neuberg Centre For Genomic Medicine, NCGM |
| NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) | Single nucleotide variant | Chr13:51946414 | Pathogenic | Missense variant | rs72552255 |
.Department of Biochemistry, All India Institute of Medical Sciences, Kalyani .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg) | Single nucleotide variant | Chr13:51960198 | Pathogenic/Likely pathogenic | Missense variant|intron variant | rs121908001 | |
| NM_000053.4(ATP7B):c.1708-1G>C | Single nucleotide variant | Chr13:51965034 | Pathogenic | Splice acceptor variant|intron variant | rs137853280 |
.Department of Biochemistry, All India Institute of Medical Sciences, Kalyani .Neuberg Centre For Genomic Medicine, NCGM |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution