Full data view for gene ATP2C1

Information The variants shown are described using the NM_001001486.1 transcript reference sequence.

291 entries on 3 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_28_ c.0 r.0 p.0 Parent #1 - pathogenic g.0 - - - ATP2C1_000099 2.5 Mb deletion Variant Error [ESYNTAX]: This genomic variant has an error (char 17: end of input). Please fix this entry and then remove this message. PubMed: Hu 2000 - - Germline yes - - - - DNA PFGE - - BCPM;HHD - - Family HHD-Ma - - - - - - - - 1 Johan den Dunnen
+/. 2 c.76delGins~24 r.(?) p.(?) Parent #1 - pathogenic g.130649329delinsN[24] - - - ATP2C1_000116 - PubMed: Fairclough 2004 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family NC13 - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2 c.76delins(24) r.(?) p.(?) Parent #1 - pathogenic g.130649329delinsN[?] - 28delGins~24 - ATP2C1_000000 - PubMed: Sudbrak 2000 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family NC2 - - - - - - - - 1 Michel van Geel
+/. 2i c.117+2T>G r.spl p.(?) Unknown - pathogenic g.130649372T>G g.130930528T>G - - ATP2C1_000123 - PubMed: Zhang 2008 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - - - - - China - - - - - 1 Michel van Geel
-?/. - c.117+7G>A r.(=) p.(=) Unknown - likely benign g.130649377G>A g.130930533G>A ATP2C1(NM_001199179.3):c.117+7G>A - ATP2C1_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.118-2A>G r.spl p.(?) Parent #1 - pathogenic g.130650864A>G g.130932020A>G - - ATP2C1_000141 - PubMed: Li 2012 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - family, 6 affected M - China - - - - - 6 Johan den Dunnen
+/. 2i c.118-1G>A r.spl p.(?) Unknown - pathogenic g.130650865G>A g.130932021G>A - - ATP2C1_000113 - PubMed: Li 2003 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - - - M - China - - - - - 1 Michel van Geel
+/. 2i c.118-1G>A r.spl p.(?) Parent #1 - pathogenic g.130650865G>A g.130932021G>A - - ATP2C1_000113 - PubMed: Fairclough 2004 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family NC12 - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 2i c.118-1G>A r.spl? p.(?) Unknown - pathogenic g.130650865G>A g.130932021G>A c.621-1A>G - ATP2C1_000113 - PubMed: Tian 2013 - - Germline - - - - - DNA SEQ - - BCPM;HHD - - Family FHHD-3 - - China - - - - - 1 Michel van Geel
+/. 3 c.134del r.(?) p.(Gly45ValfsTer2) Parent #1 - pathogenic g.130650882del g.130932038del - - ATP2C1_000151 not in 200 healthy controls PubMed: Shi 2015 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - PubMed: Shi 2014 Family A, 7 affected M - China - - - - - 1 Johan den Dunnen
+/. 3 c.163C>T r.(?) p.(Arg55*) Parent #1 - pathogenic g.130650911C>T g.130932067C>T 115C>T - ATP2C1_000021 - PubMed: Sudbrak 2000 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family OX5 - - - - - - - - 1 Michel van Geel
+/. 3 c.163C>T r.(?) p.(Arg55*) Parent #1 - pathogenic g.130650911C>T g.130932067C>T 115C>T - ATP2C1_000021 - PubMed: Chao 2002 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family 1, 6 affected - - Taiwan - - - - - 1 Johan den Dunnen
+/. 3 c.163C>T r.(?) p.(Arg55*) Parent #1 - pathogenic g.130650911C>T g.130932067C>T - - ATP2C1_000021 - PubMed: Zhang 2012 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family FHHD-8 - - China - - - - - 1 Johan den Dunnen
+/. 3 c.163C>T r.(?) p.(Arg55*) Parent #1 - pathogenic g.130650911C>T g.130932067C>T - - ATP2C1_000021 - PubMed: Zhang 2010 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - PubMed: Zhang 2010 - - - China - - - - - 1 Johan den Dunnen
+/. 3 c.163C>T r.(?) p.(Arg55*) Parent #1 - pathogenic g.130650911C>T g.130932067C>T c.317C>T - ATP2C1_000021 - PubMed: Btadini 2015 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - PubMed: Btadini 2015 family 1 - - Lebanon - - - - - 1 Johan den Dunnen
+/. 3 c.163C>T r.(?) p.(Arg55*) Parent #1 - pathogenic g.130650911C>T g.130932067C>T c.317C>T - ATP2C1_000021 - PubMed: Btadini 2015 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - PubMed: Btadini 2015 Family 5 - - Lebanon - - - - - 1 Johan den Dunnen
+/. 3 c.163C>T r.(?) p.(Arg55*) Unknown - pathogenic g.130650911C>T g.130932067C>T c.666T>C, p.R66G - ATP2C1_000021 - PubMed: Tian 2013 - - Unknown - - - - - DNA SEQ - - BCPM;HHD - - sporadic patient SHHD-5 - - China - - - - - 1 Michel van Geel
+/. - c.163C>T r.(?) p.(Arg55*) Unknown - pathogenic g.130650911C>T - - - ATP2C1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.168del r.(?) p.(His58Metfs*39) Parent #1 - pathogenic g.130650916del g.130932072del - - ATP2C1_000131 - PubMed: Zhang 2012 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family FHHD-4 - - China - - - - - 1 Johan den Dunnen
+/+ 3 c.179G>A r.(?) p.(Trp60*) Unknown ACMG pathogenic g.130650927G>A g.130932083G>A - - ATP2C1_000195 - Debeuf et al, submitted - - Germline yes - - - - DNA SEQ blood - BCPM;HHD - Debeuf et al, submitted ID: HHD2 F - Netherlands - - - - - 1 Michel van Geel
+/. 3 c.180G>A r.(?) p.(Trp60*) Unknown - pathogenic g.130650928G>A g.130932084G>A c.683A>G - ATP2C1_000174 - PubMed: Tian 2013 - - Unknown - - - - - DNA SEQ - - BCPM;HHD - - sporadic patient SHHD-4 - - China - - - - - 1 Michel van Geel
+/. 3 c.185_188del r.(?) p.(Glu62Valfs*34) Unknown - pathogenic g.130650933_130650936del g.130932089_130932092del c.185_188delAGTT - ATP2C1_000094 - PubMed: Cheng 2010 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - - - - - Hong Kong - - - - - 1 Michel van Geel
+/. 3 c.212del r.(?) p.(Leu71Argfs*26) Unknown - pathogenic g.130650960del g.130932116del - - ATP2C1_000146 - PubMed: Shibata 2013 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - PubMed: Shibata 2013 - - - Japan - - - - - 1 Johan den Dunnen
+/+ 4 c.306del r.(?) p.(Asp102Glufs*30) Unknown ACMG pathogenic g.130653537del g.130934693del - - ATP2C1_000196 - Debeuf et al, submitted - - Germline - - - - - DNA SEQ blood - BCPM;HHD - Debeuf et al, submitted ID: HHD3 F - Netherlands - - - - - 1 Michel van Geel
?/. - c.324G>C r.(?) p.(=) Unknown - VUS g.130653555G>C - - - ASTE1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.324G>C r.235_324del p.(Phe79_Val108del) Unknown ACMG pathogenic g.130653555G>C g.130934711G>C - - ASTE1_000016 Also minor splicing product skipping exon 3-4, r.118_324del p.(Ala40_Val108del) Debeuf et al, submitted - - Germline/De novo (untested) - - - - - DNA SEQ blood - BCPM;HHD - Debeuf et al, submitted ID: HHD4 F - Netherlands - - - - - 1 Michel van Geel
+/+ 4i c.324+5G>T r.235_324del p.Phe79_Val108del Unknown ACMG pathogenic g.130653560G>T g.130934716G>T - - ATP2C1_000197 variant results in exon 4 skipping Debeuf et al, submitted - - Germline yes - - - - DNA SEQ blood - BCPM;HHD - Debeuf et al, submitted ID: HHD5 M - Netherlands - - - - - 1 Michel van Geel
+/+ 4i c.324+5_324+7del r.235_324del p.Phe79_Val108del Unknown ACMG pathogenic g.130653560_130653562del g.130934716_130934718del - - ATP2C1_000198 variant results in skipping exon 4 Debeuf et al, submitted - - Germline yes - - - - DNA SEQ blood - BCPM;HHD - Debeuf et al, submitted ID: HHD6 F - Netherlands - - - - - 1 Michel van Geel
-/. - c.324+17A>G r.(=) p.(=) Unknown - benign g.130653572A>G g.130934728A>G ATP2C1(NM_001199179.3):c.324+17A>G - ATP2C1_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.335del r.(?) p.(Ile112Thrfs*20) Parent #1 - pathogenic g.130656282del g.130937438del - - ATP2C1_000058 - PubMed: Fairclough 2004 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family OX27 - - United Kingdom (Great Britain) - - - - - 1 Michel van Geel
+/. 5i c.360+1G>A r.spl p.(?) Parent #1 - pathogenic g.130656308G>A g.130937464G>A - - ATP2C1_000118 Not found in 50 controls PubMed: Majore 2005 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family FHHD-2 M - Italy - - - - - 1 Michel van Geel
+/. 5i c.360+1G>C r.325 _360del p.(Ala109_Gln120del) Unknown - pathogenic g.130656308G>C g.130937464G>C - - ATP2C1_000124 - PubMed: Hamada 2008 - - Unknown yes - - - - DNA, RNA RT-PCR, SEQ - - BCPM;HHD - - - M - Japan - - - - - 1 Michel van Geel
+/. 5i c.360+2T>A r.325_360del p.(Ala109_Gln120del) Maternal (confirmed) - pathogenic g.130656309T>A g.130937465T>A - - ATP2C1_000150 not in 50 controls PubMed: Pernet 2012 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - ? - PubMed: Pernet 2012 family, 2 affected F - - - - - - - 2 Johan den Dunnen
+/. 5i c.361-2A>G r.spl p.(?) Parent #1 - pathogenic g.130659472A>G g.130940628A>G 360(-2)A>G - ATP2C1_000120 - PubMed: Zhang 2007 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family HHD-9 - - China - - - - - 1 Michel van Geel
+/. 5i c.361-1G>A r.361_422del p.(Glu121Cysfs*3) Parent #1 - pathogenic g.130659473G>A g.130940629G>A r.313–1G>A - ATP2C1_000154 - PubMed: Btadini 2015 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - BCPM;HHD - PubMed: Btadini 2015 Family 3 - - Lebanon - - - - - 1 Johan den Dunnen
+/. 6 c.366T>A r.(?) p.(Tyr122*) Parent #1 - pathogenic g.130659479T>A g.130940635T>A - - ATP2C1_000090 - PubMed: Tian 2010 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family FHHD-1 M - China - - - - - 1 Michel van Geel
?/. - c.422+3A>G r.spl? p.? Unknown - VUS g.130659538A>G - ATP2C1(NM_014382.5):c.422+3A>G - ASTE1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.457C>T r.(?) p.(Arg153*) Unknown - pathogenic g.130660469C>T g.130941625C>T - - ATP2C1_000014 Also reported in {PMID11886536:Ikeda 2001} PubMed: Hu 2000 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - - - M - Japan - - - - - 1 Michel van Geel
+/. 7 c.457C>T r.(?) p.(Arg153*) Unknown - pathogenic g.130660469C>T g.130941625C>T - - ATP2C1_000014 - PubMed: Yokota 2002 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - - - M - Japan - - - - - 1 Johan den Dunnen
+/. 7 c.457C>T r.(?) p.(Arg153*) Parent #1 - pathogenic g.130660469C>T g.130941625C>T - - ATP2C1_000014 - PubMed: Li 2003 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - - - M - China - - - - - 1 Johan den Dunnen
+/. 7 c.457C>T r.(?) p.(Arg153*) Parent #1 - pathogenic g.130660469C>T g.130941625C>T - - ATP2C1_000014 - PubMed: Fairclough 2004 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family OX25 - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 7 c.457C>T r.(?) p.(Arg153*) Unknown - pathogenic g.130660469C>T g.130941625C>T - - ATP2C1_000014 - PubMed: Hamada 2008 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - - - M - Japan - - - - - 1 Johan den Dunnen
+/. 7 c.457C>T r.(?) p.(Arg153*) Unknown - pathogenic g.130660469C>T g.130941625C>T - - ATP2C1_000014 Information from table 2 {PMID:Meng 2016:26782588} Chang et al, 2008:Acta Univer. Med. Anhui. 43: 212-214. - - Germline - - - - - DNA SEQ - - BCPM;HHD - - - - - China - - - - - 1 Michel van Geel
+/. 7 c.478dup r.(?) p.(Thr160Asnfs*9) Unknown - pathogenic g.130660490dup g.130941646dup c.478_479insA - ATP2C1_000181 - PubMed: Li 2016 - - Unknown - - - - - DNA SEQ blood - BCPM;HHD - PubMed: Li 2016 Sporadic case 1 F - China - - - - - 1 Michel van Geel
+/. 7 c.490del r.(?) p.(Ser164Leufs*25) Parent #1 - pathogenic g.130660502del g.130941658del - - ATP2C1_000039 - PubMed: Dobson-stone 2002 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family OX10, 1 affected - - United Kingdom (Great Britain) - - - - - 1 Michel van Geel
+/. 7 c.519dup r.(?) p.(Arg174Thrfs*4) Parent #1 - pathogenic g.130660531dup g.130941687dup 519insA - ATP2C1_000040 - PubMed: Dobson-Stone 2002 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family NC3, 2 affected - - United Kingdom (Great Britain) - - - - - 1 Michel van Geel
+/. 7 c.519dup r.(?) p.(Arg174Thrfs*4) Unknown - pathogenic g.130660531dup g.130941687dup c.519_520insA - ATP2C1_000040 - PubMed: Majore 2005 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - - - F - Italy - - - - - 1 Johan den Dunnen
+/. - c.519dup r.(?) p.(Arg174Thrfs*4) Unknown - pathogenic g.130660531dup - ATP2C1(NM_014382.5):c.519dupA (p.R174Tfs*4) - ATP2C1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.520del r.(?) p.(Arg174Alafs*15) Unknown - pathogenic g.130660532del g.130941688del - - ATP2C1_000077 - PubMed: Hamada 2008 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - - - - - Japan - - - - - 1 Michel van Geel
+/. 7i c.531+2T>A r.spl p.(?) Parent #1 - pathogenic g.130660545T>A g.130941701T>A 483+2T>A - ATP2C1_000111 - PubMed: Chao 2002 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family 2, 5 affected - - Taiwan - - - - - 1 Michel van Geel
-?/. - c.585T>C r.(?) p.(Cys195=) Unknown - likely benign g.130672718T>C g.130953874T>C ATP2C1(NM_001199179.3):c.585T>C (p.C195=) - ATP2C1_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.602C>T r.(?) p.(Pro201Leu) Parent #1 - pathogenic g.130672735C>T g.130953891C>T 554C>T - ATP2C1_000027 - PubMed: Sudbrak 2000 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family OX3 - - - - - - - - 1 Michel van Geel
+/. 8 c.602C>T r.(?) p.(Pro201Leu) Parent #1 - pathogenic g.130672735C>T g.130953891C>T - - ATP2C1_000027 - PubMed: Dobson-Stone 2002 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family OX14, 1 affected - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 8 c.635C>A r.(?) p.(Ser212*) Unknown - pathogenic g.130672768C>A g.130953924C>A - - ATP2C1_000143 - PubMed: Li 2012 - - De novo - - - - - DNA SEQ - - BCPM;HHD - - - F - China - - - - - 1 Johan den Dunnen
+/. 8 c.641_644dup r.(?) p.(Asn215Lysfs*2) Unknown - pathogenic g.130672774_130672777dup g.130953930_130953933dup - - ATP2C1_000168 - PubMed: Nellen 2017 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - - - F - Finland - - - - - 1 Michel van Geel
+?/. 8 c.659G>A r.(?) p.(Gly220Glu) Unknown - likely pathogenic g.130672792G>A g.130953948G>A - - ATP2C1_000162 - PubMed: Nellen 2017 - - Unknown ? - - - - DNA SEQ - - BCPM;HHD - - - F ? Netherlands - - - - - 1 Michel van Geel
+/. 8 c.661A>C r.(?) p.(Thr221Pro) Parent #1 - pathogenic g.130672794A>C g.130953950A>C 853A>C - ATP2C1_000135 - PubMed: Luo 2011 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family A, 10 affected F - China - - - - - 1 Johan den Dunnen
+/. 8 c.681dup r.(?) p.(Ala228Serfs*13) Parent #1 - pathogenic g.130672814dup g.130953970dup - - ATP2C1_000078 - PubMed: Hamada 2008 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - - F - Korea, South (Republic) - - - - - 1 Michel van Geel
+/. 8i c.688-1G>A r.spl p.(?) Parent #1 - pathogenic g.130673855G>A g.130955011G>A - - ATP2C1_000106 - PubMed: Dobson-Stone 2002 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family NC7, 1 affected - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 9 c.689G>A r.(?) p.(Gly230Asp) Unknown - pathogenic g.130673857G>A g.130955013G>A - - ATP2C1_000171 - PubMed: Meng 2015 - - Unknown - - - - - DNA SEQ - - BCPM;HHD - PubMed: Meng 2016 Sporadic patient SHHD-5 - - China - - - - - 1 Michel van Geel
+?/. - c.689G>A r.(?) p.(Gly230Asp) Unknown - likely pathogenic g.130673857G>A - ATP2C1(NM_014382.5):c.689G>A (p.G230D) - ATP2C1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.705del r.(?) p.(Gly236Glufs*12) Parent #1 - pathogenic g.130673873del g.130955029del - - ATP2C1_000097 - PubMed: Xu 2011 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - - M - China - - - - - 1 Michel van Geel
+/. 9 c.745C>T r.(?) p.(Gln249*) Parent #1 - pathogenic g.130673913C>T g.130955069C>T - - ATP2C1_000041 - PubMed: Dobson-Stone 2002 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family OX19, 1 affected - - United Kingdom (Great Britain) - - - - - 1 Michel van Geel
+/. - c.754G>T r.(?) p.(Glu252Ter) Unknown - pathogenic g.130673922G>T g.130955078G>T ATP2C1(NM_001199179.1):c.754G>T (p.E252*), ATP2C1(NM_014382.5):c.754G>T (p.E252*) - ASTE1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.754G>T r.(?) p.(Glu252Ter) Unknown - pathogenic g.130673922G>T - ATP2C1(NM_001199179.1):c.754G>T (p.E252*), ATP2C1(NM_014382.5):c.754G>T (p.E252*) - ASTE1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.769_772dup r.(?) p.(Leu258Profs*42) Parent #1 - pathogenic g.130674960_130674963dup g.130956116_130956119dup 767insertCCCT - ATP2C1_000015 NM_014382.3 PubMed: Hu 2000, OMIM:var0001 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family HHD-Br - - - - - - - - 1 Michel van Geel
+/. 10 c.775C>T r.(?) p.(Gln259*) Unknown - pathogenic g.130674966C>T g.130956122C>T - - ATP2C1_000091 - PubMed: Tian 2010 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - - - M - China - - - - - 1 Michel van Geel
+/. - c.802C>T r.(?) p.(Gln268*) Unknown - pathogenic g.130674993C>T - - - ASTE1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.806T>G r.(?) p.(Leu269Arg) Unknown - pathogenic g.130674997T>G g.130956153T>G - - ATP2C1_000092 Not found in 100 controls PubMed: Tian 2010 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - - - M - China - - - - - 1 Michel van Geel
+/. 10 c.832G>A r.832_833ins832+1_832+11 p.(Ile313Lysfs*25) Unknown - pathogenic g.130675023G>A g.130956179G>A - - ATP2C1_000140 - PubMed: Chao 2012 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - BCPM;HHD - - family, 2 affected F - - - - - - - 2 Johan den Dunnen
+/. 10i c.832+2T>C r.757 _832del p.(Ala253Glufs*22) Unknown - pathogenic g.130675025T>C g.130956181T>C - - ATP2C1_000104 - PubMed: Ikeda 2001 - - Unknown yes - - - - DNA, RNA RT-PCR, SEQ - - BCPM;HHD - - - M - Japan - - - - - 1 Michel van Geel
+/. 10i c.832+3A>T r.spl? p.(?) Parent #1 - pathogenic g.130675026A>T g.130956182A>T - - ATP2C1_000107 - PubMed: Dobson-Stone 2002 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family OX13, 1 affected - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 10i c.832+3A>T r.spl? p.(?) Parent #1 - pathogenic g.130675026A>T g.130956182A>T - - ATP2C1_000107 - PubMed: Dobson-Stone 2002 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family OX16 - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 11 c.836dup r.(?) p.(Ile280Hisfs*19) Parent #1 - pathogenic g.130678122dup g.130959278dup 836insertT - ATP2C1_000016 - PubMed: Hu 2000 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family HHD-Pa - - - - - - - - 1 Michel van Geel
+/. 11 c.854G>A r.(?) p.(Trp285*) Parent #1 - pathogenic g.130678140G>A g.130959296G>A - - ATP2C1_000074 - PubMed: Zhang 2008 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family FHHD-1 F - China - - - - - 1 Michel van Geel
+/. 11 c.888dup r.(?) p.(Ile297Tyrfs*2) Maternal (confirmed) - pathogenic g.130678174dup g.130959330dup c.888_889insT - ATP2C1_000180 - PubMed: Li 2016 - - Germline - - - - - DNA SEQ blood - BCPM;HHD - PubMed: Li 2016 Family 4 M - China - - - - - 2 Michel van Geel
+/. 11i c.899+1G>C r.spl p.(?) Parent #1 - pathogenic g.130678186G>C g.130959342G>C - - ATP2C1_000145 - PubMed: Iijima 2014 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - PubMed: Iijima 2014 family, 2 affected - - Japan - - - - - 2 Johan den Dunnen
+/. 11i c.899+1G>T r.spl p.(?) Parent #1 - pathogenic g.130678186G>T g.130959342G>T - - ATP2C1_000125 - PubMed: Hamada 2008 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - - M - Japan - - - - - 1 Michel van Geel
+/. 11i c.900-1G>A r.spl p.(?) Parent #1 - pathogenic g.130682814G>A g.130963970G>A 852-1G>A - ATP2C1_000101 - PubMed: Sudbrak 2000, OMIM:var0005 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family FR2 - - - - - - - - 1 Michel van Geel
+/. 12 c.910G>T r.(?) p.(Ala304Ser) Unknown - pathogenic g.130682825G>T g.130963981G>T A304T - ATP2C1_000017 also reported in {PMID11886536:Ikeda 2001} PubMed: Hu 2000, OMIM:var0002 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - - - F - Japan - - - - - 1 Michel van Geel
+/. 12 c.920C>A r.(?) p.(Pro307His) Unknown - pathogenic g.130682835C>A g.130963991C>A - - ATP2C1_000148 not in 100 ethnically matched controls PubMed: Matsuda 2014 - - Unknown ? - - - - DNA SEQ - - BCPM;HHD - PubMed: Matsuda 2014 - M - Japan - - - - - 1 Johan den Dunnen
+/. 12 c.920C>T r.(?) p.(Pro307Leu) Unknown - pathogenic g.130682835C>T g.130963991C>T - - ATP2C1_000072 - PubMed: Zhang 2007 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - - Family HHD-13 - - China - - - - - 1 Michel van Geel
+/. 12 c.920C>T r.(?) p.(Pro307Leu) Maternal (inferred) - pathogenic g.130682835C>T g.130963991C>T - - ATP2C1_000072 - PubMed: Nellen 2017 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - other affected family members: mother F - Netherlands - - - - - 2 Michel van Geel
+/. - c.920C>T r.(?) p.(Pro307Leu) Unknown - pathogenic g.130682835C>T - - - ATP2C1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.923_925del r.(?) p.(Glu308del) Unknown - pathogenic g.130682838_130682840del g.130963994_130963996del c.923_925delAAG - ATP2C1_000096 - PubMed: Cheng 2010 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - - - - - Hong Kong - - - - - 1 Michel van Geel
+/. 12 c.925G>T r.(?) p.(Gly309Cys) Unknown - pathogenic g.130682840G>T g.130963996G>T - - ATP2C1_000042 - PubMed: Dobson-Stone 2002 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - - - - - United Kingdom (Great Britain) - - - - - 1 Michel van Geel
+?/. 12 c.926G>T r.(?) P.(Gly309Val) Paternal (inferred) - likely pathogenic g.130682841G>T g.130963997G>T - - ATP2C1_000169 - PubMed: Nellen 2017 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - other affected family members: sister, father, father's brother, paternal grandmother F ? Netherlands - - - - - 5 Michel van Geel
+/. 12 c.926G>T r.(?) p.(Gly309Val) Unknown - pathogenic g.130682841G>T g.130963997G>T - - ATP2C1_000169 - PubMed: Nellen 2017 - - Unknown - - - - - DNA SEQ blood - BCPM;HHD - - - F - Netherlands - - - - - 1 Michel van Geel
+/. - c.926G>T r.(?) p.(Gly309Val) Unknown - pathogenic g.130682841G>T g.130963997G>T ATP2C1(NM_001199179.3):c.926G>T (p.G309V) - ATP2C1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.926G>T r.(?) p.(Gly309Val) Unknown - likely pathogenic g.130682841G>T - ATP2C1(NM_001199179.3):c.926G>T (p.G309V) - ATP2C1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.932_952del r.(?) p.(Pro311_Thr317del) Unknown - pathogenic g.130682847_130682867del g.130964003_130964023del nt884-904del - ATP2C1_000112 - PubMed: Chao 2002 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - - - - - Taiwan - - - - - 1 Johan den Dunnen
+/. 12 c.935T>C r.(?) p.(Ile312Thr) Unknown - pathogenic g.130682850T>C g.130964006T>C - - ATP2C1_000155 - PubMed: Xing 2015 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - PubMed: Xing 2015 Family 1 M - China - - - - - 1 Johan den Dunnen
+?/. - c.935T>C r.(?) p.(Ile312Thr) Unknown - likely pathogenic g.130682850T>C - - - ATP2C1_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 12 c.944_945del r.(?) p.(Thr315Serfs*24) Unknown ACMG pathogenic g.130682859_130682860del g.130964015_130964016del - - ATP2C1_000199 - Debeuf et al, submitted - - Germline/De novo (untested) - - - - - DNA SEQ blood - BCPM;HHD - Debeuf et al, submitted ID: HHD17 F - Netherlands - - - - - 1 Michel van Geel
+/. 12 c.951_959delins24 r.(?) p.(L318_L320delinsTMCWCYEN) Parent #1 - pathogenic g.130682866_130682874delinsN[24] - - - ATP2C1_000105 - PubMed: Ikeda 2001 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family JHHD-7 - - Japan - - - - - 1 Johan den Dunnen
+/. 12 c.953T>C r.(?) p.(Leu318Pro) Parent #1 - pathogenic g.130682868T>C g.130964024T>C - - ATP2C1_000018 - PubMed: Hu 2000 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - Family HHD-Pk - - - - - - - - 1 Michel van Geel
+/. 12 c.956del r.(?) p.(Ala319Valfs*5) Parent #1 - pathogenic g.130682871del g.130964027del - - ATP2C1_000079 - PubMed: Hamada 2008 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - - - M - Japan - - - - - 1 Michel van Geel
+/. - c.970A>T r.(?) p.(Arg324*) Unknown - pathogenic g.130682885A>T - - - ASTE1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1001del r.(?) p.(Lys334Serfs*13) Unknown - pathogenic g.130682916del g.130964072del - - ATP2C1_000028 - PubMed: Dobson-stone 2002 - - Unknown yes - - - - DNA SEQ - - BCPM;HHD - - - - - United Kingdom (Great Britain) - - - - - 1 Michel van Geel
+/. 12 c.1004T>C r.(?) p.(Leu335Pro) Parent #1 - pathogenic g.130682919T>C g.130964075T>C - - ATP2C1_000076 Not found in 100 controls PubMed: Ma 2008 - - Germline yes - - - - DNA SEQ - - BCPM;HHD - - - M - China - - - - - 1 Michel van Geel
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