Unique variants in gene ATP7B

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

145 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

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     
+?/. 1 - c.-408T>C likely pathogenic r.(=) p.(=) g.52585881A>G - ATP7B:c.-408T>C - ATP7B_000128 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.-75C>A benign r.(=) p.(=) g.52585548G>T - ATP7B:c.-75C>A - ATP7B_000127 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
-?/. 2 - c.19_20del ACMG: likely benign r.(?) p.(Pro2_Met33del) g.52585454_52585455del - - - ATP7B_000131 in vitro studies indicate circumvention of NMD through translation reinitiation - - - Germline/De novo (untested) - - - - - Gunnar Schmidt
-?/. 1 - c.29C>T likely benign r.(?) p.(Ala10Val) g.52585445G>A - ATP7B:c.29C>T (A10V) - ATP7B_000126 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.51+4A>T pathogenic r.spl? p.? g.52585419T>A - ATP7B:c.51+4A>T - ATP7B_000125 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.98T>C likely benign r.(?) p.(Met33Thr) g.52549258A>G - ATP7B:c.98T>C (M33T) - ATP7B_000124 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.278T>G likely benign r.(?) p.(Leu93Arg) g.52549078A>C - ATP7B:c.278T>G (L93R) - ATP7B_000123 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 - c.325C>T likely benign r.(=) p.(=) g.52549031G>A - ATP7B:c.325C>T (=) - ATP7B_000122 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.406A>G VUS r.(?) p.(Arg136Gly) g.52548950T>C - ATP7B:NM_000053.3:c.406A>G (Arg136Gly) - ATP7B_000129 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.445G>A likely benign r.(?) p.(Val149Met) g.52548911C>T - ATP7B:c.445G>A (V149M) - ATP7B_000121 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.459C>T VUS r.(=) p.(=) g.52548897G>A - ATP7B:c.459C>T (=) - ATP7B_000120 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.482T>C VUS r.(?) p.(Ile161Thr) g.52548874A>G - ATP7B:c.482T>C (I161T) - ATP7B_000119 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.511G>T VUS r.(?) p.(Val171Leu) g.52548845C>A - ATP7B:c.511G>T (V171L) - ATP7B_000118 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.813C>A pathogenic r.(?) p.(Cys271*) g.52548543G>T - ATP7B:c.813C>A (C271*) - ATP7B_000117 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1099G>A likely benign r.(?) p.(Gly367Ser) g.52548257C>T - ATP7B:NM_000053.3:c.1099G>A, NM_001005918.2:c.1099G>A, … - ATP7B_000116 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1121T>G VUS r.(?) p.(Val374Gly) g.52548235A>C - ATP7B:c.1121T>G (V374G) - ATP7B_000115 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1145C>G VUS r.(?) p.(Ser382Cys) g.52548211G>C - ATP7B:c.1145C>G (S382C) - ATP7B_000114 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Rotterdam
-/. 5 - c.1216T>G benign r.(?) p.(Ser406Ala) g.52548140A>C - ATP7B:c.1216T>G (S406A) - ATP7B_000113 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Groningen, VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Utrecht
+?/. 1 - c.1252G>T - r.(?) p.(Glu418*) g.52548104C>A - g.37527G>T - ATP7B_000132 - - - - Germline - - - - - Donghu Zhou
-?/. 2 - c.1278C>T likely benign r.(=) p.(=) g.52548078G>A - ATP7B:c.1278C>T (=) - ATP7B_000112 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+?/. 1 - c.1285+5G>T likely pathogenic r.spl? p.? g.52548066C>A - ATP7B:c.1285+5G>T - ATP7B_000111 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 4 - c.1366G>C benign r.(?) p.(Val456Leu) g.52544805C>G - ATP7B:c.1366G>C (V456L) - ATP7B_000110 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.1543+13C>T likely benign r.(=) p.(=) g.52544615G>A - ATP7B:c.1543+13C>T - ATP7B_000109 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 4 4 c.1620C>T likely benign r.(=) p.(=), p.(Leu540=) g.52542667G>A g.51968531G>A ATP7B:c.1620C>T (=) - ATP7B_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_Rotterdam, Claire Guissart
+?/. 1 - c.1646T>C likely pathogenic r.(?) p.(Leu549Pro) g.52542641A>G - ATP7B:c.1646T>C (L549P) - ATP7B_000108 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1699G>T VUS r.(?) p.(Glu567*) g.52542588C>A - ATP7B:c.1699G>T (E567*) - ATP7B_000107 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1707+1G>A pathogenic r.spl? p.? g.52542579C>T - ATP7B:c.1707+1G>A - ATP7B_000106 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/., -/. 2 - c.1707+9T>C likely benign, benign r.(=) p.(=) g.52542571A>G - ATP7B:c.1707+9T>C - ATP7B_000105 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - c.1707+17C>A VUS r.(=) p.(=) g.52542563G>T - ATP7B:c.1707+17C>A - ATP7B_000103 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1707+17C>T VUS r.(=) p.(=) g.52542563G>A - ATP7B:c.1707+17C>T - ATP7B_000104 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1707+102C>T likely benign r.(=) p.(=) g.52542478G>A - ATP7B:c.1707+102C>T - ATP7B_000102 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1727C>T VUS r.(?) p.(Ala576Val) g.52539150G>A - ATP7B:c.1727C>T (A576V) - ATP7B_000101 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.1728G>A benign r.(=) p.(=) g.52539149C>T - ATP7B:c.1728G>A (=) - ATP7B_000100 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1774A>T - r.(?) p.(Ile592Phe) g.52539103T>A - g.46528A>T - ATP7B_000133 - - - - Germline - - - - - Donghu Zhou
?/. 1 - c.1870-2A>G VUS r.spl? p.? g.52536051T>C - ATP7B:c.1870-2A>G - ATP7B_000099 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.1910del - r.(?) p.(Asn637Thrfs*11) g.52536009del - 1910delA - ATP7B_000135 - - - - Germline - - - - - Donghu Zhou
-?/. 1 6 c.1911C>T - r.(?) p.(Asn637=) g.52536008G>A g.51961872G>A Asn637Asn - ATP7B_000005 - PubMed: Gilissen 2014 - - De novo - - - - - Marianne Vos (LOVD-team)
+?/. 1 - c.2004G>C - r.(?) p.(Met668Ile) g.52534401C>G - g.51230G>C - ATP7B_000136 - - - - Germline - - - - - Donghu Zhou
+?/. 1 - c.2075T>C - r.(?) p.(Leu692Pro) g.52534330A>G - g.51301T>C - ATP7B_000137 - - - - Germline - - - - - Donghu Zhou
+?/. 1 - c.2097_2099del - r.(?) p.(Phe700del) g.52534306_52534308del - 2097_2099delCTT - ATP7B_000138 - - - - Germline - - - - - Donghu Zhou
+/. 1 - c.2121+1G>T pathogenic r.spl? p.? g.52534283C>A - ATP7B:c.2121+1G>T - ATP7B_000098 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.2145C>T VUS r.(=) p.(=) g.52532657G>A - ATP7B:c.2145C>T (=) - ATP7B_000097 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 4 - c.2175G>A benign, likely benign r.(=) p.(=) g.52532627C>T - ATP7B:c.2175G>A (=) - ATP7B_000096 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC, VKGL-NL_VUmc, VKGL-NL_Rotterdam
?/. 1 - c.2188G>A VUS r.(?) p.(Asp730Asn) g.52532614C>T - ATP7B:c.2188G>A (D730N) - ATP7B_000095 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2191G>A VUS r.(?) p.(Val731Met) g.52532611C>T - ATP7B:c.2191G>A (V731M) - ATP7B_000094 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.2255T>G likely pathogenic r.(?) p.(Val752Gly) g.52532547A>C - ATP7B:c.2255T>G (V752G) - ATP7B_000093 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.2292C>T VUS r.(=) p.(=) g.52532510G>A - ATP7B:c.2292C>T (=) - ATP7B_000092 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.2297C>T pathogenic r.(?) p.(Thr766Met) g.52532505G>A - ATP7B:c.2297C>T (T766M) - ATP7B_000091 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.2299dup pathogenic r.(?) p.(Met769Hisfs*26) g.52532503dup - ATP7B:c.2298delGinsGC (M769Hfs*26) - ATP7B_000090 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.2304dup - r.(?) p.(Met769Hisfs*26) g.52532498dup - 2304dupC - ATP7B_000139 - - - - Germline - - - - - Donghu Zhou
?/. 1 - c.2305A>G VUS r.(?) p.(Met769Val) g.52532497T>C - ATP7B:c.2305A>G (M769V) - ATP7B_000089 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.2305_2306insC pathogenic r.(?) p.(Met769Thrfs*26) g.52532496_52532497insG - ATP7B:c.2304dupC (M769Hfs*26) - ATP7B_000088 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.2310C>G VUS r.(=) p.(=) g.52532492G>C - ATP7B:c.2310C>G (=) - ATP7B_000087 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.2332C>T likely pathogenic r.(?) p.(Arg778Trp) g.52532470G>A - ATP7B:c.2332C>T (R778W) - ATP7B_000086 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.2333G>T VUS r.(?) p.(Arg778Leu) g.52532469C>A - ATP7B:c.2333G>T (R778L) - ATP7B_000085 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.2336G>A pathogenic r.(?) p.(Trp779*) g.52532466C>T - ATP7B:c.2336G>A (W779*) - ATP7B_000084 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/., -/. 4 - c.2355+13T>G likely benign, benign r.(=) p.(=) g.52532434A>C - ATP7B:c.2355+13T>G - ATP7B_000130 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC, VKGL-NL_VUmc, VKGL-NL_Utrecht
+/. 1 - c.2356-1G>C pathogenic r.spl? p.? g.52531744C>G - ATP7B:c.2356-1G>C - ATP7B_000083 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.2363C>T pathogenic r.(?) p.(Thr788Ile) g.52531736G>A - ATP7B:c.2363C>T (T788I) - ATP7B_000082 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.2413G>A VUS r.(?) p.(Val805Ile) g.52531686C>T - ATP7B:c.2413G>A (V805I) - ATP7B_000081 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2484C>T likely benign r.(=) p.(=) g.52524499G>A - ATP7B:c.2484C>T (=) - ATP7B_000080 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 3 - c.2495A>G benign r.(?) p.(Lys832Arg) g.52524488T>C - ATP7B:c.2495A>G (K832R) - ATP7B_000079 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_VUmc, VKGL-NL_Groningen
+?/. 1 - c.2507G>A likely pathogenic r.(?) p.(Gly836Glu) g.52524476C>T - ATP7B:c.2507G>A (G836E) - ATP7B_000078 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.2514G>T VUS r.(?) p.(Lys838Asn) g.52524469C>A - ATP7B:c.2514G>T (K838N) - ATP7B_000077 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - c.2544C>T VUS r.(=) p.(=) g.52524439G>A - ATP7B:c.2544C>T (=) - ATP7B_000076 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.2572A>G VUS r.(?) p.(Thr858Ala) g.52524411T>C - ATP7B:NM_000053.3:c.2572A>G, NM_001005918.2:c.2086A>G, … - ATP7B_000075 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2575+5G>C VUS r.spl? p.? g.52524403C>G - ATP7B:c.2575+5G>C - ATP7B_000074 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2583C>T likely benign r.(=) p.(=) g.52524290G>A - ATP7B:c.2583C>T (A861=) - ATP7B_000073 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2605G>A pathogenic r.(?) p.(Gly869Arg) g.52524268C>T - ATP7B:NM_000053.3:c.2605G>A - ATP7B_000072 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.2605G>T pathogenic r.(?) p.(Gly869*) g.52524268C>A - ATP7B:c.2605G>T (G869*) - ATP7B_000071 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2606G>A likely benign r.(?) p.(Gly869Glu) g.52524267C>T - ATP7B:NM_000053.3:c.2606G>A, NM_001005918.2:c.2120G>A, … - ATP7B_000070 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.2621C>T pathogenic r.(?) p.(Ala874Val) g.52524252G>A - ATP7B:c.2621C>T (A874V) - ATP7B_000069 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.2730G>T - r.(?) p.(Lys910Asn) g.52524143C>A - g.61488G>T - ATP7B_000140 - - - - Germline - - - - - Donghu Zhou
+/. 1 - c.2755C>T pathogenic r.(?) p.(Arg919Trp) g.52523908G>A - ATP7B:c.2755C>T (R919W) - ATP7B_000068 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.2790_2792del - r.(?) p.(Ile930del) g.52523871_52523873del - 2782_2784delATC - ATP7B_000141 - - - - Germline - - - - - Donghu Zhou
+?/. 1 - c.2804C>T likely pathogenic r.(?) p.(Thr935Met) g.52523859G>A - ATP7B:c.2804C>T (T935M) - ATP7B_000067 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 4 - c.2855G>A benign r.(?) p.(Arg952Lys) g.52523808C>T - ATP7B:c.2855G>A (R952K), ATP7B:NM_000053.3:c.2855G>A (Arg952Lys) - ATP7B_000066 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_VUmc, VKGL-NL_Nijmegen, VKGL-NL_Groningen
-/. 2 - c.2866-13G>C benign r.(=) p.(=) g.52520627C>G - ATP7B:c.2866-13G>C - ATP7B_000065 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_VUmc
+?/. 1 - c.2906G>A likely pathogenic r.(?) p.(Arg969Gln) g.52520574C>T - ATP7B:c.2906G>A (R969Q) - ATP7B_000064 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.2947T>C likely pathogenic r.(?) p.(Cys983Arg) g.52520533A>G - ATP7B:c.2947T>C (C983R) - ATP7B_000063 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2955C>T likely benign r.(=) p.(=) g.52520525G>A - ATP7B:c.2955C>T (C985=) - ATP7B_000062 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2957C>T likely benign r.(?) p.(Ser986Phe) g.52520523G>A - ATP7B:c.2957C>T (S986F) - ATP7B_000061 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.2966T>G pathogenic r.(?) p.(Leu989Arg) g.52520514A>C - ATP7B:c.2966T>G (L989R) - ATP7B_000060 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 13 c.2972C>T - r.(?) p.(Thr991Met) g.52520508G>A g.51946372G>A - - ATP7B_000007 - - - - Germline - - - - - Claire Guissart
-/. 3 - c.2973G>A benign r.(=) p.(=) g.52520507C>T - ATP7B:c.2973G>A (=) - ATP7B_000059 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC, VKGL-NL_VUmc
+?/. 1 - c.3007G>A likely pathogenic r.(?) p.(Ala1003Thr) g.52520473C>T - ATP7B:c.3007G>A (A1003T) - ATP7B_000058 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 3 - c.3009G>A benign, likely benign r.(=) p.(=) g.52520471C>T - ATP7B:c.3009G>A (=) - ATP7B_000057 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC, VKGL-NL_VUmc
-/. 1 - c.3015C>T benign r.(=) p.(=) g.52520465G>A - ATP7B:c.3015C>T (=) - ATP7B_000056 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 3 - c.3045G>A benign r.(=) p.(=) g.52520435C>T - ATP7B:c.3045G>A (=) - ATP7B_000055 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC, VKGL-NL_VUmc
+/. 1 - c.3061-2A>G pathogenic r.spl? p.? g.52518429T>C - ATP7B:c.3061-2A>G - ATP7B_000054 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.3061-1G>A pathogenic r.spl? p.? g.52518428C>T - ATP7B:c.3061-1G>A - ATP7B_000053 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.3080A>G likely pathogenic r.(?) p.(Asp1027Gly) g.52518408T>C - ATP7B:c.3080A>G (D1027G) - ATP7B_000052 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.3098C>T pathogenic r.(?) p.(Thr1033Ile) g.52518390G>A - ATP7B:c.3098C>T (T1033I) - ATP7B_000051 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.3101A>G benign r.(?) p.(His1034Arg) g.52518387T>C - ATP7B:c.3101A>G (H1034R) - ATP7B_000050 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.3121C>T pathogenic r.(?) p.(Arg1041Trp) g.52518367G>A - ATP7B:c.3121C>T (R1041W) - ATP7B_000049 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.3190G>A pathogenic r.(?) p.(Glu1064Lys) g.52518298C>T - ATP7B:c.3190G>A (E1064K) - ATP7B_000048 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/., +/. 3 - c.3207C>A likely pathogenic, pathogenic r.(?) p.(His1069Gln) g.52518281G>T - ATP7B:NM_000053.3:c.3207C>A, ATP7B:c.3207C>A (H1069Q) - ATP7B_000047 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_Groningen
?/. 1 - c.3253A>C VUS r.(?) p.(Thr1085Pro) g.52516681T>G - ATP7B:c.3253A>C (T1085P) - ATP7B_000046 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.3295G>A pathogenic r.(?) p.(Gly1099Ser) g.52516639C>T - ATP7B:c.3295G>A (G1099S) - ATP7B_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.3324C>T likely benign r.(=) p.(=) g.52516610G>A - ATP7B:c.3324C>T (=) - ATP7B_000044 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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