Full data view for gene ATP7B

Information The variants shown are described using the NM_000053.3 transcript reference sequence.

767 entries on 8 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52586149T>C g.52012013T>C -676A>G - ATP7B_000245 not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - - Germline - 0.070 - - - DNA SEQ - - WND W17 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52586149T>C g.52012013T>C -676A>G - ATP7B_000245 not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - - Germline - 0.070 - - - DNA SEQ - - WND W211 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52585933C>T g.52011797C>T -460G>A - ATP7B_000128 not in 100 control chromosomes; significantly reduced activity (-11.66) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - - Germline - 0.005 - - - DNA SEQ - - WND W268 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52585881A>G g.52011745A>G [-408T>C;-75C>A] - ATP7B_000128 no variant 2nd chromosome; significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs28362532 Germline - 0.041 - - - DNA SEQ - - WND W287 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52586149T>C g.52012013T>C -676A>G - ATP7B_000245 not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - - Germline - 0.070 - - - DNA SEQ - - WND W319 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52586149T>C g.52012013T>C -676A>G - ATP7B_000245 not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - - Germline - 0.070 - - - DNA SEQ - - WND W467 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52586149T>C g.52012013T>C -676A>G - ATP7B_000245 not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - - Germline - 0.070 - - - DNA SEQ - - WND W468 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52586149T>C g.52012013T>C -676A>G - ATP7B_000245 not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - - Germline - 0.070 - - - DNA SEQ - - WND W517 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52586149T>C g.52012013T>C -676A>G - ATP7B_000245 not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - - Germline - 0.070 - - - DNA SEQ - - WND W519 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52586149T>C g.52012013T>C -676A>G - ATP7B_000245 not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - - Germline - 0.070 - - - DNA SEQ - - WND W542 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52586149T>C g.52012013T>C -676A>G - ATP7B_000245 not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - - Germline - 0.070 - - - DNA SEQ - - WND W598 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52585881A>G g.52011745A>G [-408T>C;-75C>A] - ATP7B_000128 significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs28362532 Germline - 0.041 - - - DNA SEQ - - WND W642 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52585993G>A g.52011857G>A [-520C>T;-128_-123dup5;-75C>A] - ATP7B_000128 normal activity combined allele (1.04) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs9563084 Germline - 0.094 - - - DNA SEQ - - WND W689 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52586149T>C g.52012013T>C -676A>G - ATP7B_000245 not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - - Germline - 0.070 - - - DNA SEQ - - WND W726 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52585881A>G g.52011745A>G [-408T>C;-75C>A] - ATP7B_000128 significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs28362532 Germline - 0.041 - - - DNA SEQ - - WND W380 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52585881A>G g.52011745A>G [-408T>C;-75C>A] - ATP7B_000128 no variant 2nd chromosome; significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs28362532 Germline - 0.041 - - - DNA SEQ - - WND W673 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52585881A>G g.52011745A>G [-408T>C;-75C>A] - ATP7B_000128 no variant 2nd chromosome; significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs28362532 Germline - 0.041 - - - DNA SEQ - - WND W695 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52586149T>C g.52012013T>C -676A>G - ATP7B_000245 no variant 2nd chromosome; not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - - Germline - 0.070 - - - DNA SEQ - - WND patient PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52586149T>C g.52012013T>C -676A>G - ATP7B_000245 no variant 2nd chromosome; not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - - Germline - 0.070 - - - DNA SEQ - - WND patient PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52585861G>A g.52011725G>A -388C>T - ATP7B_000128 no variant 2nd chromosome; not in 100 control chromosomes; significantly reduced activity (-5.26) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - - Germline - 0.005 - - - DNA SEQ - - WND patient PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - VUS g.52586752G>A g.52012616G>A -1279C>T - ATP7B_000128 no variant 2nd chromosome; significantly reduced activity (-77.2) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - - Germline - 0.005 - - - DNA SEQ - - WND patient PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Unknown - VUS g.52586922T>C g.52012786T>C -1449A>G - ALG11_000014 not in 100 control chromosomes; significantly ncreased activity (1.17) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs77505745 Germline - 0.011 - - - DNA SEQ - - WND - PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
-?/. _1 - r.(=) p.(=) Unknown - VUS g.52586575C>G g.52012439C>G -1102G>C - ATP7B_000128 not in 100 control chromosomes; normal activity (1.01) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - - Germline - 0.005 - - - DNA SEQ - - WND - PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
-?/. _1 - r.(=) p.(=) Unknown - VUS g.52586149T>C g.52012013T>C -853_-852insG - ATP7B_000245 not in 100 control chromosomes; normal activity (-0.045) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - - Germline - 0.017 - - - DNA SEQ - - WND - PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
?/. _1 - r.(=) p.(=) Parent #2 - VUS g.52585993G>A g.52011857G>A -520C>T - ATP7B_000128 not in 100 control chromosomes; reduced activity (-0.37) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs9563084 Germline - 0.094 - - - DNA SEQ - - WND W517 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
?/. _1 - r.(=) p.(=) Parent #2 - VUS g.52585993G>A g.52011857G>A [-520C>T;-128_-123dup5] - ATP7B_000128 reduced activity combined allele (-0.35) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs9563084 Germline - 0.094 - - - DNA SEQ - - WND W519 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #2 - VUS g.52585881A>G g.52011745A>G [-408T>C;-75C>A] - ATP7B_000128 significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs28362532 Germline - 0.041 - - - DNA SEQ - - WND W542 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #2 - VUS g.52585881A>G g.52011745A>G [-408T>C;-75C>A] - ATP7B_000128 significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs28362532 Germline - 0.041 - - - DNA SEQ - - WND W689 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
?/. _1 - r.(=) p.(=) Parent #2 - VUS g.52585993G>A g.52011857G>A [-520C>T;-128_-123dup5;-75C>A] - ATP7B_000128 normal activity combined allele (1.04) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs9563084 Germline - 0.094 - - - DNA SEQ - - WND W380 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.-1107C>G r.(?) p.(=) Unknown - likely benign g.52586580G>C g.52012444G>C ALG11(NM_001004127.2):c.26G>C (p.(Cys9Ser)) - ALG11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-408T>C r.(?) p.(=) Unknown - likely pathogenic g.52585881A>G g.52011745A>G ATP7B(NM_000053.4):c.-408T>C - ATP7B_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.-123_-119dup r.(?) p.(=) Parent #2 - VUS g.52585596_52585600dup g.52011460_52011464dup [-520C>T;-128_-123dup5] - ATP7B_000312 reduced activity combined allele (-0.35) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs148013251 Germline - 0.082 - - - DNA SEQ - - WND W519 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. 1 c.-123_-119dup r.(?) p.(=) Parent #1 - VUS g.52585596_52585600dup g.52011460_52011464dup [-520C>T;-128_-123dup5;-75C>A] - ATP7B_000312 normal activity combined allele (1.04) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs148013251 Germline - 0.082 - - - DNA SEQ - - WND W689 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. 1 c.-123_-119dup r.(?) p.(=) Parent #2 - VUS g.52585596_52585600dup g.52011460_52011464dup [-520C>T;-128_-123dup5;-75C>A] - ATP7B_000312 normal activity combined allele (1.04) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs148013251 Germline - 0.082 - - - DNA SEQ - - WND W380 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
-/. - c.-75C>A r.(?) p.(=) Unknown - benign g.52585548G>T g.52011412G>T ATP7B(NM_000053.3):c.-75C>A, ATP7B(NM_000053.4):c.-75C>A - ATP7B_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-75C>A r.(?) p.(=) Unknown - benign g.52585548G>T g.52011412G>T ATP7B(NM_000053.3):c.-75C>A, ATP7B(NM_000053.4):c.-75C>A - ATP7B_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-75C>A r.(?) p.(=) Unknown - benign g.52585548G>T g.52011412G>T ATP7B(NM_000053.3):c.-75C>A, ATP7B(NM_000053.4):c.-75C>A - ATP7B_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.-75C>A r.(?) p.(=) Parent #1 - VUS g.52585548G>T g.52011412G>T [-408T>C;-75C>A] - ATP7B_000127 no variant 2nd chromosome; significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs2277448 Germline - 0.082 - - - DNA SEQ - - WND W287 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. 1 c.-75C>A r.(?) p.(=) Parent #2 - VUS g.52585548G>T g.52011412G>T [-408T>C;-75C>A] - ATP7B_000127 significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs2277448 Germline - 0.082 - - - DNA SEQ - - WND W542 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. 1 c.-75C>A r.(?) p.(=) Parent #1 - VUS g.52585548G>T g.52011412G>T [-408T>C;-75C>A] - ATP7B_000127 significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs2277448 Germline - 0.082 - - - DNA SEQ - - WND W642 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. 1 c.-75C>A r.(?) p.(=) Both (homozygous) - VUS g.52585548G>T g.52011412G>T - - ATP7B_000127 - PubMed: Mukherjee 2014 - rs2277448 Germline - 0.082 - - - DNA SEQ - - WND W689 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. 1 c.-75C>A r.(?) p.(=) Both (homozygous) - VUS g.52585548G>T g.52011412G>T - - ATP7B_000127 significantly increased activity (1.54) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs2277448 Germline - 0.082 - - - DNA SEQ - - WND W380 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. 1 c.-75C>A r.(?) p.(=) Parent #1 - VUS g.52585548G>T g.52011412G>T [-408T>C;-75C>A] - ATP7B_000127 no variant 2nd chromosome; significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs2277448 Germline - 0.082 - - - DNA SEQ - - WND W673 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. 1 c.-75C>A r.(?) p.(=) Parent #1 - VUS g.52585548G>T g.52011412G>T [-408T>C;-75C>A] - ATP7B_000127 no variant 2nd chromosome; not in 100 control chromosomes; significantly increased activity (1.54) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs2277448 Germline - 0.082 - - - DNA SEQ - - WND W695 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. 1 c.-75C>A r.(?) p.(=) Parent #1 - VUS g.52585548G>T g.52011412G>T - - ATP7B_000127 no variant 2nd chromosome; not in 100 control chromosomes; significantly increased activity (1.54) in luciferase promoter-reporter assay PubMed: Mukherjee 2014 - rs2277448 Germline - 0.082 - - - DNA SEQ - - WND patient PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+?/. _1 - r.(=|red) p.(=|red) Both (homozygous) - likely pathogenic (recessive) g.52586149T>C g.52012013T>C c.-676A>G - ATP7B_000245 variant predicted affect binding site copper-regulated transcription factor (MTF1) PubMed: Chen 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS WND patient PubMed: Chen 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States Afghanistan - - - - 1 Johan den Dunnen
+/. _1 - r.(=|red) p.(=|red) Unknown - NA g.52586149T>C g.52012013T>C c.-676A>G - ATP7B_000245 HepG2 cell expression cloning luciferase reporter assay show 0.34 reduced expression PubMed: Chen 2018 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 2_21_ c.615_*2087{0} r.? p.? Paternal (confirmed) - pathogenic (recessive) g.52490974_52548744del - del ex2-21 - ATP7B_000226 - PubMed: Liu 2020 - - Germline - - - - - DNA MLPA, PCR, SEQ - - WND patient PubMed: Liu 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
-?/. - c.19_20del r.19_20del p.(Pro2_Met33del) Both (homozygous) ACMG likely benign g.52585455_52585456del g.52011319_52011320del 19_20delCA - ATP7B_000131 in vitro studies indicate circumvention of NMD through translation reinitiation PubMed: Stalke 2019 - - Germline - - - - - DNA, RNA MLPA, RT-PCR, SEQ, SEQ-NG-I peripheral blood WES, BVVLS1 Pat11 PubMed: Stalke 2019 family, 2 affected (sister/brother) F yes Germany - >10y - - - 2 Gunnar Schmidt
-?/. - c.19_20del r.(?) p.(Pro2_Met33del) Parent #1 ACMG likely benign g.52585455_52585456del g.52011319_52011320del - - ATP7B_000131 in vitro studies indicate circumvention of NMD through translation reinitiation PubMed: Stalke 2019 - - Germline - - - - - DNA SEQ-NG-I peripheral blood - BVVLS1 brother PubMed: Stalke 2019 brother M yes Germany - - - - - 1 Gunnar Schmidt
+/. - c.19_20del r.(?) p.(Gln7AspfsTer14) Unknown - pathogenic g.52585455_52585456del g.52011319_52011320del - - ATP7B_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.29C>T r.(?) p.(Ala10Val) Unknown - likely benign g.52585445G>A g.52011309G>A ATP7B(NM_000053.4):c.29C>T (p.A10V) - ATP7B_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.51+4A>T r.spl? p.? Unknown - pathogenic g.52585419T>A g.52011283T>A ATP7B(NM_000053.4):c.51+4A>T - ATP7B_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.51+4A>T r.spl? p.? Unknown - pathogenic g.52585419T>A - ATP7B(NM_000053.4):c.51+4A>T - ATP7B_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.92C>T r.(?) p.(Pro31Leu) Unknown - likely benign g.52549264G>A g.51975128G>A ATP7B(NM_000053.3):c.92C>T (p.P31L) - ATP7B_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.98T>C r.(?) p.(Met33Thr) Unknown - likely benign g.52549258A>G g.51975122A>G ATP7B(NM_000053.4):c.98T>C (p.M33T) - ATP7B_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.98T>C r.(?) p.(Met33Thr) Unknown - likely benign g.52549258A>G - ATP7B(NM_000053.4):c.98T>C (p.M33T) - ATP7B_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.122A>G r.(?) p.(Asn41Ser) Unknown - likely pathogenic g.52549234T>C - ATP7B(NM_000053.3):c.122A>G (p.N41S), ATP7B(NM_000053.4):c.122A>G (p.N41S) - ATP7B_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.122A>G r.(?) p.(Asn41Ser) Unknown - likely pathogenic g.52549234T>C - ATP7B(NM_000053.3):c.122A>G (p.N41S), ATP7B(NM_000053.4):c.122A>G (p.N41S) - ATP7B_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.122A>G r.(?) p.(Asn41Ser) Unknown - likely pathogenic g.52549234T>C - ATP7B(NM_000053.3):c.122A>G (p.N41S), ATP7B(NM_000053.4):c.122A>G (p.N41S) - ATP7B_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.174dup r.(?) p.(Thr59HisfsTer19) Both (homozygous) - pathogenic (recessive) g.52549183dup g.51975047dup 172_173insC - ATP7B_000311 - PubMed: Mukherjee 2014 - - Germline - 3/291 case chromosomes - - - DNA SEQ - - WND W360 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+/. 2 c.174dup r.(?) p.(Thr59HisfsTer19) Unknown - pathogenic (recessive) g.52549183dup g.51975047dup 172_173insC - ATP7B_000311 combination of alleles not reported PubMed: Mukherjee 2014 - - Germline - 3/291 case chromosomes - - - DNA SEQ - - WND - PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
-/. 2 c.199A>G r.(?) p.(Met67Val) Unknown - benign g.52549157T>C g.51975021T>C - - ATP7B_000310 combination of alleles not reported; not in 100 control chromosomes PubMed: Mukherjee 2014 - - Germline - 1/291 case chromosomes - - - DNA SEQ - - WND - PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.226A>G r.(?) p.(Ile76Val) Unknown - likely benign g.52549130T>C g.51974994T>C ATP7B(NM_000053.3):c.226A>G (p.I76V) - ATP7B_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.254G>T r.(?) p.(Gly85Val) Unknown - pathogenic g.52549102C>A - ATP7B(NM_000053.4):c.254G>T (p.G85V) - ATP7B_000318 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.278T>G r.(?) p.(Leu93Arg) Unknown - likely benign g.52549078A>C g.51974942A>C ATP7B(NM_000053.4):c.278T>G (p.L93R) - ATP7B_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.325C>T r.(?) p.(Leu109=) Unknown - likely benign g.52549031G>A g.51974895G>A ATP7B(NM_000053.3):c.325C>T (p.L109=), ATP7B(NM_000053.4):c.325C>T (p.L109=) - ATP7B_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.325C>T r.(?) p.(Leu109=) Unknown - likely benign g.52549031G>A g.51974895G>A ATP7B(NM_000053.3):c.325C>T (p.L109=), ATP7B(NM_000053.4):c.325C>T (p.L109=) - ATP7B_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.366_373dup r.(?) p.(Ile125ArgfsTer31) Unknown - pathogenic (recessive) g.52548984_52548991dup g.51974848_51974855dup 365_372dup8 - ATP7B_000309 combination of alleles not reported PubMed: Mukherjee 2014 - - Germline - 2/291 case chromosomes - - - DNA SEQ - - WND - PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+/. 2 c.366_373dup r.(?) p.(Ile125ArgfsTer31) Parent #2 - pathogenic (recessive) g.52548984_52548991dup g.51974848_51974855dup 365_372dup8 - ATP7B_000309 - PubMed: Mukherjee 2014 - - Germline - 2/291 case chromosomes - - - DNA SEQ - - WND W642 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
?/. - c.406A>G r.(?) p.(Arg136Gly) Unknown - VUS g.52548950T>C g.51974814T>C - - ATP7B_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.406A>G r.(?) p.(Arg136Gly) Unknown - benign g.52548950T>C g.51974814T>C - - ATP7B_000129 combination of alleles not reported; not in 100 control chromosomes PubMed: Mukherjee 2014 - - Germline - 1/291 case chromosomes - - - DNA SEQ - - WND - PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.437A>G r.(?) p.(Lys146Arg) Unknown - likely benign g.52548919T>C g.51974783T>C ATP7B(NM_000053.4):c.437A>G (p.K146R) - ATP7B_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.442C>T r.(?) p.(Arg148Trp) Unknown - VUS g.52548914G>A - ATP7B(NM_000053.4):c.442C>T (p.R148W) - ATP7B_000321 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.445G>A r.(?) p.(Val149Met) Unknown - likely benign g.52548911C>T g.51974775C>T ATP7B(NM_000053.4):c.445G>A (p.V149M) - ATP7B_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.448_452del r.(?) p.(Glu150HisfsTer11) Both (homozygous) - pathogenic (recessive) g.52548905_52548909del g.51974769_51974773del 448_452del5 - ATP7B_000308 - PubMed: Mukherjee 2014 - - Germline - 15/291 case chromosomes - - - DNA SEQ - - WND W601 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+/. 2 c.448_452del r.(?) p.(Glu150HisfsTer11) Both (homozygous) - pathogenic (recessive) g.52548905_52548909del g.51974769_51974773del 448_452del5 - ATP7B_000308 - PubMed: Mukherjee 2014 - - Germline - 15/291 case chromosomes - - - DNA SEQ - - WND W259 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+/. 2 c.448_452del r.(?) p.(Glu150HisfsTer11) Both (homozygous) - pathogenic (recessive) g.52548905_52548909del g.51974769_51974773del 448_452del5 - ATP7B_000308 - PubMed: Mukherjee 2014 - - Germline - 15/291 case chromosomes - - - DNA SEQ - - WND W103 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+/. 2 c.448_452del r.(?) p.(Glu150HisfsTer11) Both (homozygous) - pathogenic (recessive) g.52548905_52548909del g.51974769_51974773del 448_452del5 - ATP7B_000308 - PubMed: Mukherjee 2014 - - Germline - 15/291 case chromosomes - - - DNA SEQ - - WND W257 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+/. 2 c.448_452del r.(?) p.(Glu150HisfsTer11) Parent #1 - pathogenic (recessive) g.52548905_52548909del g.51974769_51974773del 448_452del5 - ATP7B_000308 - PubMed: Mukherjee 2014 - - Germline - 15/291 case chromosomes - - - DNA SEQ - - WND W378 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+/. 2 c.448_452del r.(?) p.(Glu150HisfsTer11) Unknown - pathogenic (recessive) g.52548905_52548909del g.51974769_51974773del 448_452del5 - ATP7B_000308 combination of alleles not reported PubMed: Mukherjee 2014 - - Germline - 15/291 case chromosomes - - - DNA SEQ - - WND - PubMed: Mukherjee 2014 - - - India - - - - - 4 Johan den Dunnen
+/. 2 c.448_452del r.(?) p.(Glu150HisfsTer11) Parent #2 - pathogenic (recessive) g.52548905_52548909del g.51974769_51974773del 448_452del5 - ATP7B_000308 - PubMed: Mukherjee 2014 - - Germline - 15/291 case chromosomes - - - DNA SEQ - - WND W333 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+/. 2 c.448_452del r.(?) p.(Glu150HisfsTer11) Parent #2 - pathogenic (recessive) g.52548905_52548909del g.51974769_51974773del 448_452del5 - ATP7B_000308 - PubMed: Mukherjee 2014 - - Germline - 15/291 case chromosomes - - - DNA SEQ - - WND W268 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
?/. - c.459C>T r.(?) p.(Thr153=) Unknown - VUS g.52548897G>A g.51974761G>A ATP7B(NM_000053.4):c.459C>T (p.T153=) - ATP7B_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.482T>C r.(?) p.(Ile161Thr) Unknown - VUS g.52548874A>G g.51974738A>G ATP7B(NM_000053.4):c.482T>C (p.I161T) - ATP7B_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.505C>T r.(?) p.(Gln169Ter) Unknown - pathogenic g.52548851G>A - - - ATP7B_000314 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.511G>T r.(?) p.(Val171Leu) Unknown - VUS g.52548845C>A g.51974709C>A ATP7B(NM_000053.4):c.511G>T (p.V171L) - ATP7B_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.550G>A r.(?) p.(Val184Ile) Unknown - likely benign g.52548806C>T g.51974670C>T ATP7B(NM_000053.4):c.550G>A (p.V184I) - ATP7B_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.561T>A r.(?) p.(Tyr187Ter) Both (homozygous) - pathogenic (recessive) g.52548795A>T g.51974659A>T - - ATP7B_000307 - PubMed: Mukherjee 2014 - - Germline - 4/291 case chromosomes - - - DNA SEQ - - WND W190 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+/. 2 c.561T>A r.(?) p.(Tyr187Ter) Unknown - pathogenic (recessive) g.52548795A>T g.51974659A>T - - ATP7B_000307 combination of alleles not reported PubMed: Mukherjee 2014 - - Germline - 4/291 case chromosomes - - - DNA SEQ - - WND - PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+/. 2 c.561T>A r.(?) p.(Tyr187Ter) Parent #2 - pathogenic (recessive) g.52548795A>T g.51974659A>T - - ATP7B_000307 - PubMed: Mukherjee 2014 - - Germline - 4/291 case chromosomes - - - DNA SEQ - - WND W221 PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+/. - c.577C>T r.(?) p.(Gln193*) Unknown - pathogenic g.52548779G>A - ATP7B(NM_000053.4):c.577C>T (p.Q193*) - ATP7B_000332 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.662C>A r.(?) p.(Pro221Gln) Unknown - likely benign g.52548694G>T g.51974558G>T ATP7B(NM_000053.3):c.662C>A (p.P221Q) - ATP7B_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.670dup r.(?) p.(Ile224AsnfsTer2) Unknown - likely pathogenic g.52548686dup - - - ATP7B_000328 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.677G>A r.(?) p.(Arg226Gln) Unknown - likely benign g.52548679C>T g.51974543C>T ATP7B(NM_000053.4):c.677G>A (p.R226Q) - ATP7B_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.684A>G r.(?) p.(Gln228=) Unknown - benign g.52548672T>C g.51974536T>C - - ATP7B_000306 - PubMed: Mukherjee 2014 - - Germline - 1 case - - - DNA SEQ - - WND - PubMed: Mukherjee 2014 - - - India - - - - - 1 Johan den Dunnen
+/. - c.813C>A r.(?) p.(Cys271Ter) Unknown - pathogenic g.52548543G>T g.51974407G>T ATP7B(NM_000053.4):c.813C>A (p.C271*) - ATP7B_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.813C>A r.(?) p.(Cys271Ter) Unknown - pathogenic g.52548543G>T g.51974407G>T ATP7B(NM_000053.4):c.813C>A (p.C271*) - ATP7B_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.813C>A r.(?) p.(Cys271Ter) Unknown - pathogenic g.52548543G>T - ATP7B(NM_000053.4):c.813C>A (p.C271*) - ATP7B_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.813C>A r.(?) p.(Cys271Ter) Both (homozygous) - likely pathogenic g.52548543G>T g.51974407G>T - - ATP7B_000117 secondary finding - ClinVar-RCV000169298.1 - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4266 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
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