Unique variants in the ATP7B gene

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

211 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.-1107C>G r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
+?/. 1 - c.-408T>C r.(?) p.(=) - likely pathogenic g.52585881A>G g.52011745A>G ATP7B(NM_000053.3):c.-408T>C - ATP7B_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 3 - c.-75C>A r.(?) p.(=) - benign g.52585548G>T g.52011412G>T ATP7B(NM_000053.3):c.-75C>A - ATP7B_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/., -?/. 3 - c.19_20del r.(?) p.(Gln7AspfsTer14), p.(Pro2_Met33del) ACMG likely benign, pathogenic g.52585455_52585456del g.52011319_52011320del - - ATP7B_000131 in vitro studies indicate circumvention of NMD through translation reinitiation, 1 more item - - - CLASSIFICATION record, Germline/De novo (untested) - - - - - VKGL-NL_Nijmegen, Gunnar Schmidt
-?/. 1 - c.29C>T r.(?) p.(Ala10Val) - likely benign g.52585445G>A g.52011309G>A ATP7B(NM_000053.3):c.29C>T (p.A10V) - ATP7B_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.51+4A>T r.spl? p.? - pathogenic g.52585419T>A g.52011283T>A ATP7B(NM_000053.3):c.51+4A>T - ATP7B_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.92C>T r.(?) p.(Pro31Leu) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.98T>C r.(?) p.(Met33Thr) - likely benign g.52549258A>G g.51975122A>G ATP7B(NM_000053.3):c.98T>C (p.M33T) - ATP7B_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
+?/. 1 - c.122A>G r.(?) p.(Asn41Ser) - likely pathogenic g.52549234T>C - ATP7B(NM_000053.3):c.122A>G (p.N41S) - ATP7B_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.226A>G r.(?) p.(Ile76Val) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.278T>G r.(?) p.(Leu93Arg) - likely benign g.52549078A>C g.51974942A>C ATP7B(NM_000053.3):c.278T>G (p.L93R) - ATP7B_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 - c.325C>T r.(?) p.(Leu109=) - likely benign g.52549031G>A g.51974895G>A ATP7B(NM_000053.3):c.325C>T (p.L109=) - ATP7B_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.406A>G r.(?) p.(Arg136Gly) - VUS g.52548950T>C g.51974814T>C - - ATP7B_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.437A>G r.(?) p.(Lys146Arg) - likely benign g.52548919T>C g.51974783T>C ATP7B(NM_000053.3):c.437A>G (p.K146R) - ATP7B_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.445G>A r.(?) p.(Val149Met) - likely benign g.52548911C>T g.51974775C>T ATP7B(NM_000053.3):c.445G>A (p.V149M) - ATP7B_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.459C>T r.(?) p.(Thr153=) - VUS g.52548897G>A g.51974761G>A ATP7B(NM_000053.3):c.459C>T (p.T153=) - ATP7B_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.482T>C r.(?) p.(Ile161Thr) - VUS g.52548874A>G g.51974738A>G ATP7B(NM_000053.3):c.482T>C (p.I161T) - ATP7B_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.511G>T r.(?) p.(Val171Leu) - VUS g.52548845C>A g.51974709C>A ATP7B(NM_000053.3):c.511G>T (p.V171L) - ATP7B_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.550G>A r.(?) p.(Val184Ile) - likely benign g.52548806C>T g.51974670C>T ATP7B(NM_000053.3):c.550G>A (p.V184I) - ATP7B_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.662C>A r.(?) p.(Pro221Gln) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.677G>A r.(?) p.(Arg226Gln) - likely benign g.52548679C>T g.51974543C>T ATP7B(NM_000053.3):c.677G>A (p.R226Q) - ATP7B_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/., +?/. 4 - c.813C>A r.(?) p.(Cys271Ter) - likely pathogenic, pathogenic g.52548543G>T g.51974407G>T ATP7B(NM_000053.3):c.813C>A (p.C271*) - ATP7B_000117 secondary finding, VKGL data sharing initiative Nederland 0 ClinVar-RCV000169298.1 - CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc
+?/. 1 - c.865C>T r.(?) p.(Gln289Ter) - likely pathogenic g.52548491G>A g.51974355G>A - - ATP7B_000208 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121907999 Germline - 8/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.1049C>T r.(?) p.(Pro350Leu) - likely benign g.52548307G>A g.51974171G>A ATP7B(NM_000053.3):c.1049C>T (p.P350L) - ATP7B_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1099G>A r.(?) p.(Gly367Ser) - VUS g.52548257C>T g.51974121C>T ATP7B(NM_000053.3):c.1099G>A (p.(Gly367Ser)) - ATP7B_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1121T>G r.(?) p.(Val374Gly) - VUS g.52548235A>C g.51974099A>C ATP7B(NM_000053.3):c.1121T>G (p.V374G) - ATP7B_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 2 - c.1122C>G r.(?) p.(Val374=) - benign, VUS g.52548234G>C g.51974098G>C ATP7B(NM_000053.3):c.1122C>G (p.V374=) - ATP7B_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 2 - c.1145C>G r.(?) p.(Ser382Cys) - VUS g.52548211G>C g.51974075G>C ATP7B(NM_000053.3):c.1145C>G (p.S382C) - ATP7B_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.1153G>A r.(?) p.(Glu385Lys) - likely benign g.52548203C>T g.51974067C>T ATP7B(NM_000053.3):c.1153G>A (p.E385K) - ATP7B_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 6 - c.1216T>G r.(?) p.(Ser406Ala) - benign g.52548140A>C g.51974004A>C ATP7B(NM_000053.3):c.1216T>G (p.S406A) - ATP7B_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 2 - c.1230A>G r.(?) p.(Pro410=) - likely benign g.52548126T>C g.51973990T>C ATP7B(NM_000053.3):c.1230A>G (p.P410=) - ATP7B_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+?/. 1 - c.1252G>T r.(?) p.(Glu418*) - likely pathogenic g.52548104C>A g.51973968C>A g.37527G>T - ATP7B_000132 - - - - Germline - - - - - Donghu Zhou
-/., -?/. 4 - c.1278C>T r.(?) p.(Val426=) - benign, likely benign g.52548078G>A g.51973942G>A ATP7B(NM_000053.3):c.1278C>T (p.V426=) - ATP7B_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc, VKGL-NL_AMC
+?/., ?/. 3 - c.1285+5G>T r.spl? p.? - likely pathogenic, VUS g.52548066C>A g.51973930C>A ATP7B(NM_000053.3):c.1285+5G>T - ATP7B_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 1 - c.1291T>C r.(?) p.(Cys431Arg) - likely benign g.52544880A>G g.51970744A>G ATP7B(NM_000053.3):c.1291T>C (p.C431R) - ATP7B_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 5 - c.1366G>C r.(?) p.(Val456Leu) - benign g.52544805C>G g.51970669C>G ATP7B(NM_000053.3):c.1366G>C (p.V456L) - ATP7B_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.1543+13C>T r.(=) p.(=) - likely benign g.52544615G>A g.51970479G>A ATP7B(NM_000053.3):c.1543+13C>T - ATP7B_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1544-12T>C r.(=) p.(=) - likely benign g.52542755A>G g.51968619A>G ATP7B(NM_000053.3):c.1544-12T>C - ATP7B_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/., ?/. 4 - c.1555G>A r.(?) p.(Val519Met) - likely benign, VUS g.52542732C>T g.51968596C>T ATP7B(NM_000053.3):c.1555G>A (p.V519M) - ATP7B_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc
-?/. 2 - c.1607T>C r.(?) p.(Val536Ala) - likely benign g.52542680A>G g.51968544A>G ATP7B(NM_000053.3):c.1607T>C (p.V536A) - ATP7B_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 4 4 c.1620C>T r.(=), r.(?) p.(Leu540=) - likely benign g.52542667G>A g.51968531G>A ATP7B(NM_000053.3):c.1620C>T (p.L540=) - ATP7B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Claire Guissart, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
+?/. 1 - c.1646T>C r.(?) p.(Leu549Pro) - likely pathogenic g.52542641A>G g.51968505A>G ATP7B(NM_000053.3):c.1646T>C (p.L549P) - ATP7B_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1678G>A r.(?) p.(Ala560Thr) - likely benign g.52542609C>T - ATP7B(NM_000053.3):c.1678G>A (p.A560T) - ATP7B_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1699G>T r.(?) p.(Glu567Ter) - VUS g.52542588C>A g.51968452C>A ATP7B(NM_000053.3):c.1699G>T (p.E567*) - ATP7B_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1707+1G>A r.spl? p.? - pathogenic g.52542579C>T g.51968443C>T ATP7B(NM_000053.3):c.1707+1G>A - ATP7B_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 2 - c.1707+9T>C r.(=) p.(=) - benign, likely benign g.52542571A>G g.51968435A>G ATP7B(NM_000053.3):c.1707+9T>C - ATP7B_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - c.1707+17C>A r.(=) p.(=) - VUS g.52542563G>T g.51968427G>T ATP7B(NM_000053.3):c.1707+17C>A - ATP7B_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1707+17C>T r.(=) p.(=) - VUS g.52542563G>A g.51968427G>A ATP7B(NM_000053.3):c.1707+17C>T - ATP7B_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1707+102C>T r.(=) p.(=) - likely benign g.52542478G>A g.51968342G>A ATP7B(NM_000053.3):c.1707+102C>T - ATP7B_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 - c.1708-1G>C r.spl? p.? - pathogenic g.52539170C>G g.51965034C>G ATP7B(NM_000053.3):c.1708-1G>C - ATP7B_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.1727C>T r.(?) p.(Ala576Val) - VUS g.52539150G>A g.51965014G>A ATP7B(NM_000053.3):c.1727C>T (p.A576V) - ATP7B_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., -?/. 2 - c.1728G>A r.(?) p.(Ala576=) - benign, likely benign g.52539149C>T g.51965013C>T ATP7B(NM_000053.3):c.1728G>A (p.A576=) - ATP7B_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+?/. 1 - c.1774A>T r.(?) p.(Ile592Phe) - likely pathogenic g.52539103T>A g.51964967T>A g.46528A>T - ATP7B_000133 - - - - Germline - - - - - Donghu Zhou
+?/. 2 - c.1847G>A r.(?) p.(Arg616Gln) - likely pathogenic g.52539030C>T g.51964894C>T ATP7B(NM_000053.3):c.1847G>A (p.R616Q) - ATP7B_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.1870-2A>G r.spl? p.? - VUS g.52536051T>C g.51961915T>C ATP7B(NM_000053.3):c.1870-2A>G - ATP7B_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1877G>C r.(?) p.(Gly626Ala) - VUS g.52536042C>G g.51961906C>G - - ATP7B_000207 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783299 Germline - 2/2758 individuals - - - Mohammed Faruq
-?/. 1 - c.1883A>G r.(?) p.(His628Arg) - likely benign g.52536036T>C g.51961900T>C ATP7B(NM_000053.3):c.1883A>G (p.H628R) - ATP7B_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1910del r.(?) p.(Asn637Thrfs*11) - likely pathogenic g.52536010del g.51961874del 1910delA - ATP7B_000135 - - - - Germline - - - - - Donghu Zhou
-?/. 1 6 c.1911C>T r.(?) p.(Asn637=) - likely benign g.52536008G>A g.51961872G>A Asn637Asn - ATP7B_000005 - PubMed: Gilissen 2014 - - De novo - - - - - Marianne Vos (LOVD-team)
+/., ?/. 2 - c.1922T>C r.(?) p.(Leu641Ser) - pathogenic, VUS g.52535997A>G g.51961861A>G ATP7B(NM_000053.3):c.1922T>C (p.L641S) - ATP7B_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.1965G>A r.(?) p.(Leu655=) - likely benign g.52534440C>T g.51960304C>T ATP7B(NM_000053.3):c.1965G>A (p.L655=) - ATP7B_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1969A>C r.(?) p.(Ser657Arg) - VUS g.52534436T>G g.51960300T>G - - ATP7B_000206 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs372436901 Germline - 1/2795 individuals - - - Mohammed Faruq
-?/., ?/. 2 - c.1993A>G r.(?) p.(Met665Val) - likely benign, VUS g.52534412T>C g.51960276T>C ATP7B(NM_000053.3):c.1993A>G (p.M665V) - ATP7B_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/., ?/. 3 - c.1995G>A r.(?) p.(Met665Ile) - likely benign, VUS g.52534410C>T g.51960274C>T ATP7B(NM_000053.3):c.1995G>A (p.M665I) - ATP7B_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
+?/. 1 - c.2004G>C r.(?) p.(Met668Ile) - likely pathogenic g.52534401C>G g.51960265C>G g.51230G>C - ATP7B_000136 - - - - Germline - - - - - Donghu Zhou
+?/. 1 - c.2071G>A r.(?) p.(Gly691Arg) - likely pathogenic g.52534334C>T g.51960198C>T - - ATP7B_000205 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908001 Germline - 1/2795 individuals - - - Mohammed Faruq
+?/. 1 - c.2075T>C r.(?) p.(Leu692Pro) - likely pathogenic g.52534330A>G g.51960194A>G g.51301T>C - ATP7B_000137 - - - - Germline - - - - - Donghu Zhou
+?/. 1 - c.2097_2099del r.(?) p.(Phe700del) - likely pathogenic g.52534310_52534312del g.51960174_51960176del 2097_2099delCTT - ATP7B_000138 - - - - Germline - - - - - Donghu Zhou
+/. 1 - c.2121+1G>T r.spl? p.? - pathogenic g.52534283C>A g.51960147C>A ATP7B(NM_000053.3):c.2121+1G>T - ATP7B_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.2123T>C r.(?) p.(Leu708Pro) - likely pathogenic g.52532679A>G g.51958543A>G - - ATP7B_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2145C>T r.(?) p.(Tyr715=) - VUS g.52532657G>A g.51958521G>A ATP7B(NM_000053.3):c.2145C>T (p.Y715=) - ATP7B_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/., ?/. 5 - c.2175G>A r.(?) p.(=), p.(Arg725=) - benign, likely benign, VUS g.52532627C>T g.51958491C>T ATP7B(NM_000053.3):c.2175G>A (p.R725=) - ATP7B_000096 VKGL data sharing initiative Nederland PubMed: Stalke 2018 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - c.2188G>A r.(?) p.(Asp730Asn) - VUS g.52532614C>T g.51958478C>T ATP7B(NM_000053.3):c.2188G>A (p.D730N) - ATP7B_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2191G>A r.(?) p.(Val731Met) - VUS g.52532611C>T g.51958475C>T ATP7B(NM_000053.3):c.2191G>A (p.V731M) - ATP7B_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.2255T>G r.(?) p.(Val752Gly) - likely pathogenic g.52532547A>C g.51958411A>C ATP7B(NM_000053.3):c.2255T>G (p.V752G) - ATP7B_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.2292C>T r.(?) p.(Phe764=) - VUS g.52532510G>A g.51958374G>A ATP7B(NM_000053.3):c.2292C>T (p.F764=) - ATP7B_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.2297C>T r.(?) p.(Thr766Met) - pathogenic g.52532505G>A g.51958369G>A ATP7B(NM_000053.3):c.2297C>T (p.T766M) - ATP7B_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/., +?/. 3 - c.2304dup r.(?) p.(Met769Hisfs*26), p.(Met769HisfsTer26) - likely pathogenic, pathogenic g.52532503dup g.51958367dup 2304dupC, 1 more item - ATP7B_000090, ATP7B_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc, Donghu Zhou
?/. 1 - c.2305A>G r.(?) p.(Met769Val) - VUS g.52532497T>C g.51958361T>C ATP7B(NM_000053.3):c.2305A>G (p.M769V) - ATP7B_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.2310C>G r.(?) p.(Leu770=) - VUS g.52532492G>C g.51958356G>C ATP7B(NM_000053.3):c.2310C>G (p.L770=) - ATP7B_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.2332C>T r.(?) p.(Arg778Trp) - likely pathogenic g.52532470G>A g.51958334G>A ATP7B(NM_000053.3):c.2332C>T (p.R778W) - ATP7B_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/., ?/. 2 8 c.2333G>T r.(?) p.(Arg778Leu) - pathogenic (recessive), VUS g.52532469C>A g.51958333C>A ATP7B(NM_000053.3):c.2333G>T (p.R778L) - ATP7B_000085 VKGL data sharing initiative Nederland PubMed: Wei 2011 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Utrecht
+/. 1 - c.2336G>A r.(?) p.(Trp779Ter) - pathogenic g.52532466C>T g.51958330C>T ATP7B(NM_000053.3):c.2336G>A (p.W779*) - ATP7B_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/., ?/. 5 - c.2355+13T>G r.(=), r.spl? p.(=), p.? - benign, likely benign, VUS g.52532434A>C g.51958298A>C ATP7B(NM_000053.3):c.2355+13T>G - ATP7B_000130 VKGL data sharing initiative Nederland PubMed: Stalke 2018 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_AMC
+/. 1 - c.2356-1G>C r.spl? p.? - pathogenic g.52531744C>G g.51957608C>G ATP7B(NM_000053.3):c.2356-1G>C - ATP7B_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.2363C>T r.(?) p.(Thr788Ile) - pathogenic g.52531736G>A g.51957600G>A ATP7B(NM_000053.3):c.2363C>T (p.T788I) - ATP7B_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.2413G>A r.(?) p.(Val805Ile) - VUS g.52531686C>T g.51957550C>T ATP7B(NM_000053.3):c.2413G>A (p.V805I) - ATP7B_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2436T>C r.(?) p.(Asn812=) - likely benign g.52531663A>G g.51957527A>G ATP7B(NM_000053.3):c.2436T>C (p.N812=) - ATP7B_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2447+17A>G r.(=) p.(=) - likely benign g.52531635T>C g.51957499T>C ATP7B(NM_000053.3):c.2447+17A>G - ATP7B_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 - c.2463C>T r.(?) p.(Pro821=) - likely benign g.52524520G>A g.51950384G>A ATP7B(NM_000053.3):c.2463C>T (p.P821=) - ATP7B_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.2479C>T r.(?) p.(Arg827Trp) - VUS g.52524504G>A g.51950368G>A ATP7B(NM_000053.3):c.2479C>T (p.R827W) - ATP7B_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 2 - c.2484C>T r.(?) p.(Gly828=) - benign, likely benign g.52524499G>A g.51950363G>A ATP7B(NM_000053.3):c.2484C>T (p.G828=) - ATP7B_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 4 - c.2495A>G r.(?) p.(Lys832Arg) - benign g.52524488T>C g.51950352T>C ATP7B(NM_000053.3):c.2495A>G (p.K832R) - ATP7B_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
+?/. 1 - c.2507G>A r.(?) p.(Gly836Glu) - likely pathogenic g.52524476C>T g.51950340C>T ATP7B(NM_000053.3):c.2507G>A (p.G836E) - ATP7B_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.2514G>T r.(?) p.(Lys838Asn) - VUS g.52524469C>A g.51950333C>A ATP7B(NM_000053.3):c.2514G>T (p.K838N) - ATP7B_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 3 - c.2544C>T r.(?) p.(Gly848=) - VUS g.52524439G>A g.51950303G>A ATP7B(NM_000053.3):c.2544C>T (p.G848=) - ATP7B_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.2572A>G r.(?) p.(Thr858Ala) - VUS g.52524411T>C g.51950275T>C ATP7B(NM_000053.3):c.2572A>G (p.(Thr858Ala)) - ATP7B_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2583C>T r.(?) p.(Ala861=) - likely benign g.52524290G>A g.51950154G>A ATP7B(NM_000053.3):c.2583C>T (p.A861=) - ATP7B_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.2605G>A r.(?) p.(Gly869Arg) - VUS g.52524268C>T g.51950132C>T ATP7B(NM_000053.3):c.2605G>A (p.(Gly869Arg), p.G869R) - ATP7B_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
+/. 1 - c.2605G>T r.(?) p.(Gly869Ter) - pathogenic g.52524268C>A g.51950132C>A ATP7B(NM_000053.3):c.2605G>T (p.G869*) - ATP7B_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »