All transcript variants in gene ATP7B

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

380 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-?/. - c.-1107C>G likely benign r.(?) p.(=) g.52586580G>C - ALG11(NM_001004127.2):c.26G>C (p.(Cys9Ser)) - ALG11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.-408T>C likely pathogenic r.(?) p.(=) g.52585881A>G - ATP7B(NM_000053.3):c.-408T>C - ATP7B_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-75C>A benign r.(?) p.(=) g.52585548G>T - ATP7B(NM_000053.3):c.-75C>A (p.?) - ATP7B_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.-75C>A benign r.(?) p.(=) g.52585548G>T - ATP7B(NM_000053.3):c.-75C>A (p.?) - ATP7B_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.-75C>A benign r.(?) p.(=) g.52585548G>T - ATP7B(NM_000053.3):c.-75C>A (p.?) - ATP7B_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.19_20del ACMG: 2 r.(?) p.(Pro2_Met33del) g.52585454_52585455del - - - ATP7B_000131 in vitro studies indicate circumvention of NMD through translation reinitiation - - - Germline/De novo (untested) - - - 0 - Gunnar Schmidt
-?/. - c.19_20del ACMG: 2 r.(?) p.(Pro2_Met33del) g.52585454_52585455del - - - ATP7B_000131 in vitro studies indicate circumvention of NMD through translation reinitiation - - - Germline/De novo (untested) - - - 0 - Gunnar Schmidt
+/. - c.19_20del pathogenic r.(?) p.(Gln7Aspfs*14) g.52585455_52585456del - ATP7B(NM_000053,NM_001005918,NM_001243182):c.19_20del (p.(Gln7fs)) - ATP7B_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.29C>T likely benign r.(?) p.(Ala10Val) g.52585445G>A - ATP7B(NM_000053.3):c.29C>T (p.A10V) - ATP7B_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.51+4A>T pathogenic r.spl? p.? g.52585419T>A - ATP7B(NM_000053.3):c.51+4A>T - ATP7B_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.98T>C likely benign r.(?) p.(Met33Thr) g.52549258A>G - ATP7B(NM_000053.3):c.98T>C (p.M33T) - ATP7B_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.278T>G likely benign r.(?) p.(Leu93Arg) g.52549078A>C - ATP7B(NM_000053.3):c.278T>G (p.L93R) - ATP7B_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.325C>T likely benign r.(?) p.(=) g.52549031G>A - ATP7B(NM_000053.3):c.325C>T (p.L109=) - ATP7B_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.325C>T likely benign r.(?) p.(=) g.52549031G>A - ATP7B(NM_000053.3):c.325C>T (p.L109=) - ATP7B_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.406A>G VUS r.(?) p.(Arg136Gly) g.52548950T>C - ATP7B(NM_000053.3):c.406A>G (p.Arg136Gly) - ATP7B_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.437A>G likely benign r.(?) p.(Lys146Arg) g.52548919T>C - ATP7B(NM_000053.3):c.437A>G (p.K146R) - ATP7B_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.445G>A likely benign r.(?) p.(Val149Met) g.52548911C>T - ATP7B(NM_000053.3):c.445G>A (p.V149M) - ATP7B_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.459C>T VUS r.(?) p.(=) g.52548897G>A - ATP7B(NM_000053.3):c.459C>T (p.T153=) - ATP7B_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.482T>C VUS r.(?) p.(Ile161Thr) g.52548874A>G - ATP7B(NM_000053.3):c.482T>C (p.I161T) - ATP7B_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.511G>T VUS r.(?) p.(Val171Leu) g.52548845C>A - ATP7B(NM_000053.3):c.511G>T (p.V171L) - ATP7B_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.550G>A likely benign r.(?) p.(Val184Ile) g.52548806C>T - ATP7B(NM_000053.3):c.550G>A (p.V184I) - ATP7B_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.677G>A likely benign r.(?) p.(Arg226Gln) g.52548679C>T - ATP7B(NM_000053.3):c.677G>A (p.R226Q) - ATP7B_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.813C>A pathogenic r.(?) p.(Cys271*) g.52548543G>T - ATP7B(NM_000053.3):c.813C>A (p.C271*) - ATP7B_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.813C>A pathogenic r.(?) p.(Cys271*) g.52548543G>T - ATP7B(NM_000053.3):c.813C>A (p.C271*) - ATP7B_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.813C>A pathogenic r.(?) p.(Cys271*) g.52548543G>T - ATP7B(NM_000053.3):c.813C>A (p.C271*) - ATP7B_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1049C>T likely benign r.(?) p.(Pro350Leu) g.52548307G>A - ATP7B(NM_000053.3):c.1049C>T (p.P350L) - ATP7B_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1099G>A VUS r.(?) p.(Gly367Ser) g.52548257C>T - ATP7B(NM_000053.3):c.1099G>A (p.(Gly367Ser), p.(=)) - ATP7B_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1121T>G VUS r.(?) p.(Val374Gly) g.52548235A>C - ATP7B(NM_000053.3):c.1121T>G (p.V374G) - ATP7B_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1122C>G benign r.(?) p.(=) g.52548234G>C - ATP7B(NM_000053.3):c.1122C>G (p.=) - ATP7B_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1122C>G VUS r.(?) p.(=) g.52548234G>C - ATP7B(NM_000053.3):c.1122C>G (p.=) - ATP7B_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1145C>G VUS r.(?) p.(Ser382Cys) g.52548211G>C - ATP7B(NM_000053.3):c.1145C>G (p.S382C) - ATP7B_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.1145C>G VUS r.(?) p.(Ser382Cys) g.52548211G>C - ATP7B(NM_000053.3):c.1145C>G (p.S382C) - ATP7B_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1153G>A likely benign r.(?) p.(Glu385Lys) g.52548203C>T - ATP7B(NM_000053.3):c.1153G>A (p.E385K) - ATP7B_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1216T>G benign r.(?) p.(Ser406Ala) g.52548140A>C - ATP7B(NM_000053.3):c.1216T>G (p.S406A) - ATP7B_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1216T>G benign r.(?) p.(Ser406Ala) g.52548140A>C - ATP7B(NM_000053.3):c.1216T>G (p.S406A) - ATP7B_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1216T>G benign r.(?) p.(Ser406Ala) g.52548140A>C - ATP7B(NM_000053.3):c.1216T>G (p.S406A) - ATP7B_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1216T>G benign r.(?) p.(Ser406Ala) g.52548140A>C - ATP7B(NM_000053.3):c.1216T>G (p.S406A) - ATP7B_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1216T>G benign r.(?) p.(Ser406Ala) g.52548140A>C - ATP7B(NM_000053.3):c.1216T>G (p.S406A) - ATP7B_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1216T>G benign r.(?) p.(Ser406Ala) g.52548140A>C - ATP7B(NM_000053.3):c.1216T>G (p.S406A) - ATP7B_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1230A>G likely benign r.(?) p.(=) g.52548126T>C - ATP7B(NM_000053.3):c.1230A>G (p.=) - ATP7B_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1230A>G likely benign r.(?) p.(=) g.52548126T>C - ATP7B(NM_000053.3):c.1230A>G (p.=) - ATP7B_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.1252G>T - r.(?) p.(Glu418*) g.52548104C>A - g.37527G>T - ATP7B_000132 - - - - Germline - - - 0 - Donghu Zhou
-?/. - c.1278C>T likely benign r.(?) p.(=) g.52548078G>A - ATP7B(NM_000053.3):c.1278C>T (p.V426=) - ATP7B_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1278C>T likely benign r.(?) p.(=) g.52548078G>A - ATP7B(NM_000053.3):c.1278C>T (p.V426=) - ATP7B_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1278C>T benign r.(?) p.(=) g.52548078G>A - ATP7B(NM_000053.3):c.1278C>T (p.V426=) - ATP7B_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.1285+5G>T likely pathogenic r.spl? p.? g.52548066C>A - ATP7B(NM_000053.3):c.1285+5G>T - ATP7B_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1285+5G>T VUS r.spl? p.? g.52548066C>A - ATP7B(NM_000053.3):c.1285+5G>T - ATP7B_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.1285+5G>T likely pathogenic r.spl? p.? g.52548066C>A - ATP7B(NM_000053.3):c.1285+5G>T - ATP7B_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1291T>C likely benign r.(?) p.(Cys431Arg) g.52544880A>G - ATP7B(NM_000053.3):c.1291T>C (p.C431R) - ATP7B_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1366G>C benign r.(?) p.(Val456Leu) g.52544805C>G - ATP7B(NM_000053.3):c.1366G>C (p.V456L) - ATP7B_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1366G>C benign r.(?) p.(Val456Leu) g.52544805C>G - ATP7B(NM_000053.3):c.1366G>C (p.V456L) - ATP7B_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1366G>C benign r.(?) p.(Val456Leu) g.52544805C>G - ATP7B(NM_000053.3):c.1366G>C (p.V456L) - ATP7B_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1366G>C benign r.(?) p.(Val456Leu) g.52544805C>G - ATP7B(NM_000053.3):c.1366G>C (p.V456L) - ATP7B_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1366G>C benign r.(?) p.(Val456Leu) g.52544805C>G - ATP7B(NM_000053.3):c.1366G>C (p.V456L) - ATP7B_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1543+13C>T likely benign r.(=) p.(=) g.52544615G>A - ATP7B(NM_000053.3):c.1543+13C>T - ATP7B_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1544-12T>C likely benign r.(=) p.(=) g.52542755A>G - ATP7B(NM_000053.3):c.1544-12T>C - ATP7B_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1555G>A VUS r.(?) p.(Val519Met) g.52542732C>T - ATP7B(NM_000053.3):c.1555G>A (p.V519M) - ATP7B_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1555G>A VUS r.(?) p.(Val519Met) g.52542732C>T - ATP7B(NM_000053.3):c.1555G>A (p.V519M) - ATP7B_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1555G>A likely benign r.(?) p.(Val519Met) g.52542732C>T - ATP7B(NM_000053.3):c.1555G>A (p.V519M) - ATP7B_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1607T>C VUS r.(?) p.(Val536Ala) g.52542680A>G - ATP7B(NM_000053.3):c.1607T>C (p.V536A) - ATP7B_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1607T>C likely benign r.(?) p.(Val536Ala) g.52542680A>G - ATP7B(NM_000053.3):c.1607T>C (p.V536A) - ATP7B_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 4 c.1620C>T - r.(=) p.(Leu540=) g.52542667G>A g.51968531G>A - - ATP7B_000006 - - - - Germline - - - 0 - Claire Guissart
-?/. - c.1620C>T likely benign r.(?) p.(=) g.52542667G>A - ATP7B(NM_000053.3):c.1620C>T (p.=) - ATP7B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.1620C>T likely benign r.(?) p.(=) g.52542667G>A - ATP7B(NM_000053.3):c.1620C>T (p.=) - ATP7B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1620C>T likely benign r.(?) p.(=) g.52542667G>A - ATP7B(NM_000053.3):c.1620C>T (p.=) - ATP7B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.1646T>C likely pathogenic r.(?) p.(Leu549Pro) g.52542641A>G - ATP7B(NM_000053.3):c.1646T>C (p.L549P) - ATP7B_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1699G>T VUS r.(?) p.(Glu567*) g.52542588C>A - ATP7B(NM_000053.3):c.1699G>T (p.E567*) - ATP7B_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1707+1G>A pathogenic r.spl? p.? g.52542579C>T - ATP7B(NM_000053.3):c.1707+1G>A - ATP7B_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1707+9T>C benign r.(=) p.(=) g.52542571A>G - ATP7B(NM_000053.3):c.1707+9T>C - ATP7B_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1707+9T>C likely benign r.(=) p.(=) g.52542571A>G - ATP7B(NM_000053.3):c.1707+9T>C - ATP7B_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.1707+17C>A VUS r.(=) p.(=) g.52542563G>T - ATP7B(NM_000053.3):c.1707+17C>A - ATP7B_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1707+17C>T VUS r.(=) p.(=) g.52542563G>A - ATP7B(NM_000053.3):c.1707+17C>T - ATP7B_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1707+102C>T likely benign r.(=) p.(=) g.52542478G>A - ATP7B(NM_000053.3):c.1707+102C>T - ATP7B_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1708-1G>C pathogenic r.spl? p.? g.52539170C>G - ATP7B(NM_000053.3):c.1708-1G>C - ATP7B_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1727C>T VUS r.(?) p.(Ala576Val) g.52539150G>A - ATP7B(NM_000053.3):c.1727C>T (p.A576V) - ATP7B_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.1727C>T VUS r.(?) p.(Ala576Val) g.52539150G>A - ATP7B(NM_000053.3):c.1727C>T (p.A576V) - ATP7B_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1728G>A benign r.(?) p.(=) g.52539149C>T - ATP7B(NM_000053.3):c.1728G>A (p.=) - ATP7B_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1728G>A likely benign r.(?) p.(=) g.52539149C>T - ATP7B(NM_000053.3):c.1728G>A (p.=) - ATP7B_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.1774A>T - r.(?) p.(Ile592Phe) g.52539103T>A - g.46528A>T - ATP7B_000133 - - - - Germline - - - 0 - Donghu Zhou
+?/. - c.1847G>A likely pathogenic r.(?) p.(Arg616Gln) g.52539030C>T - ATP7B(NM_000053.3):c.1847G>A (p.R616Q) - ATP7B_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1870-2A>G VUS r.spl? p.? g.52536051T>C - ATP7B(NM_000053.3):c.1870-2A>G - ATP7B_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1883A>G likely benign r.(?) p.(His628Arg) g.52536036T>C - ATP7B(NM_000053.3):c.1883A>G (p.H628R) - ATP7B_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.1910del - r.(?) p.(Asn637Thrfs*11) g.52536009del - 1910delA - ATP7B_000135 - - - - Germline - - - 0 - Donghu Zhou
-?/. 6 c.1911C>T - r.(?) p.(Asn637=) g.52536008G>A g.51961872G>A Asn637Asn - ATP7B_000005 - PubMed: Gilissen 2014 - - De novo - - - 0 - Marianne Vos (LOVD-team)
+/. - c.1922T>C pathogenic r.(?) p.(Leu641Ser) g.52535997A>G - ATP7B(NM_000053.3):c.1922T>C (p.L641S) - ATP7B_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1922T>C VUS r.(?) p.(Leu641Ser) g.52535997A>G - ATP7B(NM_000053.3):c.1922T>C (p.L641S) - ATP7B_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1965G>A likely benign r.(?) p.(=) g.52534440C>T - ATP7B(NM_000053.3):c.1965G>A (p.L655=) - ATP7B_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1993A>G likely benign r.(?) p.(Met665Val) g.52534412T>C - ATP7B(NM_000053.3):c.1993A>G (p.M665V) - ATP7B_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1993A>G VUS r.(?) p.(Met665Val) g.52534412T>C - ATP7B(NM_000053.3):c.1993A>G (p.M665V) - ATP7B_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1995G>A VUS r.(?) p.(Met665Ile) g.52534410C>T - ATP7B(NM_000053.3):c.1995G>A (p.M665I) - ATP7B_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1995G>A likely benign r.(?) p.(Met665Ile) g.52534410C>T - ATP7B(NM_000053.3):c.1995G>A (p.M665I) - ATP7B_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1995G>A VUS r.(?) p.(Met665Ile) g.52534410C>T - ATP7B(NM_000053.3):c.1995G>A (p.M665I) - ATP7B_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.2004G>C - r.(?) p.(Met668Ile) g.52534401C>G - g.51230G>C - ATP7B_000136 - - - - Germline - - - 0 - Donghu Zhou
+?/. - c.2075T>C - r.(?) p.(Leu692Pro) g.52534330A>G - g.51301T>C - ATP7B_000137 - - - - Germline - - - 0 - Donghu Zhou
+?/. - c.2097_2099del - r.(?) p.(Phe700del) g.52534306_52534308del - 2097_2099delCTT - ATP7B_000138 - - - - Germline - - - 0 - Donghu Zhou
+/. - c.2121+1G>T pathogenic r.spl? p.? g.52534283C>A - ATP7B(NM_000053.3):c.2121+1G>T - ATP7B_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.2123T>C likely pathogenic r.(?) p.(Leu708Pro) g.52532679A>G - ATP7B(NM_000053.3):c.2123T>C (p.(Leu708Pro)) - ATP7B_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2145C>T VUS r.(?) p.(=) g.52532657G>A - ATP7B(NM_000053.3):c.2145C>T (p.Y715=) - ATP7B_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.2175G>A benign r.(?) p.(=) g.52532627C>T - ATP7B(NM_000053.3):c.2175G>A (p.=) - ATP7B_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.2175G>A likely benign r.(?) p.(=) g.52532627C>T - ATP7B(NM_000053.3):c.2175G>A (p.=) - ATP7B_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
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