Unique variants in the ATP7A gene

Information The variants shown are described using the NM_000052.5 transcript reference sequence.

439 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     
+/+? 5 _1_1i c.-160_(-22+1_-21-1){0} r.0? p.0? - - pathogenic (recessive) g.(?_77166194)_(77166333_77227117)del g.(?_77910697)_(78003239_78009103)del c.-160-?_-22+?del, del ex1 - ATP7A_000206 no ATP7A signal in patient fibroblasts PubMed: Kaler 2008, PubMed: Kaler 2010, PubMed: Moizard 2010, PubMed: Tümer 2003, 1 more item - - Germline - - - - - Zeynep Tümer
-/-? 1 1 c.-55C>T r.(?) p.(=) - - benign g.77166299C>T - 91T>C - ATP7A_000279 - Tumer unpublished, PubMed: Gu 2001, PubMed: Watanabe 2005 - - Germline - - - - - Zeynep Tümer
-?/. 1 - c.-22+8C>G r.(=) p.(=) - - likely benign g.77166340C>G g.77910843C>G ATP7A(NM_000052.6):c.-22+8C>G - PGAM4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.-22+117T>C r.(=) p.(=) - - VUS g.77166449T>C g.77910952T>C - - ATP7A_000354 - - - - Germline - - - - - Yu Sun
./. 1 - c.-21-3660_1336del r.spl? p.? - - pathogenic g.77223458_77245454del g.77967961_77989957del ATP7A - ATP7A_000416 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.-21-2631C>T r.(=) p.(=) - - likely benign g.77224487C>T g.77968990C>T PGAM4(NM_001029891.2):c.649G>A (p.(Val217Ile)) - ATP7A_000359 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-21-2436A>T r.(=) p.(=) - - likely benign g.77224682A>T - PGAM4(NM_001029891.2):c.454T>A (p.S152T) - PGAM4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-21-2424C>G r.(=) p.(=) - - VUS g.77224694C>G g.77969197C>G PGAM4(NM_001029891.2):c.442G>C (p.(Asp148His)) - ATP7A_000360 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 1 - c.-21-2239C>T r.(=) p.(=) - - VUS g.77224879C>T g.77969382C>T - - PGAM4_000001 recurrent, found 10 times PubMed: Tarpey 2009 - - Germline - 10/208 cases - - - Lucy Raymond
?/. 1 - c.-21-2154A>T r.(=) p.(=) - - VUS g.77224964A>T - PGAM4(NM_001029891.2):c.172T>A (p.S58T) - PGAM4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-21-2101C>T r.(=) p.(=) - - VUS g.77225017C>T g.77969520C>T PGAM4(NM_001029891.2):c.119G>A (p.(Arg40His)) - ATP7A_000362 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-21-2100G>A r.(=) p.(=) - - likely benign g.77225018G>A g.77969521G>A - - ATP7A_000412 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-21-2061C>T r.(=) p.(=) - - likely benign g.77225057C>T g.77969560C>T PGAM4(NM_001029891.2):c.79G>A (p.D27N) - PGAM4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.-21-2019C>T r.(=) p.(=) - - VUS g.77225099C>T g.77969602C>T - - PGAM4_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
+/+? 3 1i_6i c.(-22+1_-21-1)_(1707+1_1708-1)del r.? p.? - - pathogenic (recessive) g.(77166333_77227117)_(77258736_77264600)del g.(77910836_77971620)_(78003239_78009103)del 1-?_1707+?del - ATP7A_000207 - PubMed: Tümer 1994b, PubMed: Tümer 2003, PubMed: Tümer 2003 - - De novo, Germline - - - - - Zeynep Tümer
+/+? 1 1i_9i c.(-22+1_-21-1)_(2172+1_2173-1)del r.? p.? - - pathogenic (recessive) g.(77166333_77227117)_(77267172_77268375)del g.(77910836_77971620)_(78011675_78012878)del 1-?_2172+?del - ATP7A_000208 - PubMed: Tümer 2003 - - Germline - - - - - Zeynep Tümer
+/+? 1 1i_14i c.(-22+1_-21-1)_(2916+1_2917-1)del r.? p.? - - pathogenic (recessive) g.(77166333_77227117)_(77276578_77284747)del g.(77910836_77971620)_(78021081_78029250)del 1-?_2916+?del - ATP7A_000209 - PubMed: Tümer 2003 - - De novo - - - - - Zeynep Tümer
+/+? 1 1i_14i c.(-22+1_-21-1)_(2916+1_2917-1)dup r.? p.? - - pathogenic (recessive) g.(77166333_77227117)_(77276578_77284747)dup g.(77910836_77971620)_(78021081_78029250)dup r.-21_2916dup - ATP7A_000203 cDNA fragment joining exons 2 to 14 PubMed: Moizard 2010 - - Germline - - - - - Zeynep Tümer
+/+? 1 1i_15i c.(-22+1_-21-1)_(3111+1_3112-1)del r.? p.? - - pathogenic (recessive) g.(77166333_77227117)_(77284946_77286901)del g.(77910836_77971620)_(78029449_78031403)del 1-?_3111+?del - ATP7A_000210 - PubMed: Tümer 2003 - - Germline - - - - - Zeynep Tümer
+/+? 1 1i_17i c.(-22+1_-21-1)_(3511+1_3512-1)del r.? p.? - - pathogenic (recessive) g.(77166333_77227117)_(77289320_77294333)del g.(77910836_77971620)_(78033822_78038835)del 1-?_3511+?del - ATP7A_000211 - PubMed: Tümer 2003 - - Germline - - - - - Zeynep Tümer
+/+? 1 1i_18i c.(-22+1_-21-1)_(3658+1_3659-1)del r.? p.? - - pathogenic (recessive) g.(77166333_77227117)_(77294481_77296088)del g.(77910836_77971620)_(78038983_78040590)del c.-21-?_3658+?del - ATP7A_000212 - PubMed: Moizard 2010 - - Germline - - - - - Zeynep Tümer
-/-? 13 _1 - r.(=) p.(=) - - benign g.77165059del, g.77165117_77165118delinsGT, g.77165176_77165177delinsCC, g.77165183C>A, 9 more items - -1030A>C, -1033A>C, -1040--1039CC>AA, -1099--1098GT>AG, -192G>A, -842--847GC>CG, 7 more items - ATP7A_000261, ATP7A_000262, ATP7A_000263, ATP7A_000264, ATP7A_000265, ATP7A_000266, ATP7A_000267, 6 more items - PubMed: Gu 2001 - - Germline - - - - - Zeynep Tümer
+/+? 1 10i_14i c.((2406+1_2407-1)_(2916+1_2917-1)del) r.(?) p.? - - pathogenic (recessive) g.((77268611_77270159)_(77276578_77284747)del) g.(78013114_78014662)_(78021081_78029250)del del ex11-14 - ATP7A_000303 mouse model, inframe deletion, single transcript (2380-?_2889+?del) PubMed: Cunliffe 2001 - - animal model - - - - - Zeynep Tümer
+/+? 1 22i_23_ c.((4226+1_4227-1)_(*1100_*1400)del) r.? p.? - - pathogenic (recessive) (g.(77301070_77301790)_(77303167_77303467)del) - 1 more item - ATP7A_000309 mouse model (4200-?_?del1400?), reduced levels of transcript with Northern blot PubMed: Mototani 2006 - - animal model - - - - - Zeynep Tümer
+/+? 2 _1_1i c.(-160_(-22+1_-21-1){0}), c.-160_(-22+1_-21-1){0} r.0, r.0? p.0, p.0? - - pathogenic (recessive) g.((?_77166194)_(77166333_77227117)del), g.(?_77166194)_(77166333_77227117)del g.(?_77910697)_(78003239_78009103)del c.-160u-646?_-160u-548?del, deletion promoter/exon 1 - ATP7A_000001, ATP7A_000297 2 more items PubMed: Levinson 1994, PubMed: Mercer 1994, PubMed: Levinson 1997, PubMed: Cunliffe 2001, 1 more item - - animal model, Germline - - - - - Zeynep Tümer
+/+?, -/-? 10 8i c.(?), c.? r.(?), r.? p.=, p.? - - benign, pathogenic (recessive) g.? - -45G>G or T, -660--659GG>AA, 46,X,t(X;1)(q13;q12)de novo, 46,X,t(X;13)(q13.3;q14.3)de novo, 6 more items - ATP7A_000254, ATP7A_000255, ATP7A_000256, ATP7A_000257, ATP7A_000258, ATP7A_000259, ATP7A_000260, 3 more items 1 more item PubMed: Abusaad 1999, PubMed: Beck 1994, PubMed: Gerdes 1990, PubMed: Gu 2001, PubMed: Sirleto 2009, 4 more items - - De novo, Germline - - - - - Zeynep Tümer
-/-? 1 2i c.121-796GT[16_25] r.(?) p.(=) - - benign g.77242942GT[16_25] g.77987446GT[16_25] (CA)A in intron 2 - ATP7A_000280 6 observed (GT) alleles, n= 16, 20, 21, 22, 23, 25 PubMed: Beggy 1995 - - Germline - - - - - Zeynep Tümer
-/-? 1 5i c.1544-272CA[19_24] r.(?) p.(=) - - benign g.77258298CA[19_24] g.78002801CA[19_24] (CA)B in intron 5 - ATP7A_000283 6 observed (CA) alleles. n= 19, 20, 21, 22, 23, 24 PubMed: Beggy 1995 - - Germline - - - - - Zeynep Tümer
+/+? 1 18 c.3560^3561G>A r.(?) p.(Trp1187*) - - pathogenic (recessive) g.77294382^77294383G>A - W1187X - ATP7A_000085 1 more item PubMed: Kaler 2010 - - Germline - - - - - Zeynep Tümer
?/. 1 - c.92G>A r.(?) p.(Gly31Glu) - - VUS g.77227230G>A g.77971733G>A ATP7A(NM_000052.7):c.92G>A (p.G31E) - ATP7A_000364 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+? 2 2i_4i c.(120+1_121-1)_(1336+1_1337-1)del r.121_1336del, r.? p.? - - pathogenic (recessive) g.(77227262_77243740)_(77245455_77253974)del g.(77971765_77988244)_(77989959_77998477)del c.121-?_1336+?del - ATP7A_000213 Translation reinitiation. frame shift PubMed: Tümer 2003, PubMed: Tümer 2003, PubMed: Poulsen 2000b, PubMed: Paulsen 2006 - - Germline - - - - - Zeynep Tümer
+/+? 1 2i_4i c.(120+1_121-1)_(1336+1_1337-1)dup r.[=,121_1336dup,611_1336dup] p.? - - pathogenic (recessive) g.(77227262_77243740)_(77245455_77253974)dup g.(77971765_77988244)_(77989959_77998477)dup c.121-?_1336+?dup - ATP7A_000316 wild-type; r.121_1336dup (ex3-4, frame shift); r.611_1336dup (ex5, in-frame) PubMed: Mogensen 2011 - - Germline - - - - - Zeynep Tümer
+/+? 2 2i_5i c.(120+1_121-1)_(1543+1_1544-1)dup r.121_1543dup, r.[121_1543dup,1337_1543dup] p.? - - pathogenic (recessive) g.(77227262_77243740)_(77254183_77258570)dup g.(77971765_77988244)_(77998686_78003073)dup c.121-?_1543+?dup - ATP7A_000202 cDNA fragment joining exons 2 to 5, 1 more item PubMed: Mogensen 2011, PubMed: Moizard 2010 - - Germline - - - - - Zeynep Tümer
+/+? 2 2i_10i c.(120+1_121-1)_(2406+1_2407-1)del r.? p.? - - pathogenic (recessive) g.(77227262_77243740)_(77268611_77270159)del g.(77971765_77988244)_(78013114_78014662)del c.121-?_2406+?del - ATP7A_000214 - PubMed: Tümer 2003 - - Germline - - - - - Zeynep Tümer
+/+? 1 2i_13i c.(120+1_121-1)_(2781+1_2782-1)dup r.? p.? - - pathogenic (recessive) g.(77227262_77243740)_(77275897_77276442)dup g.(77971765_77988244)_(78020400_78020945)dup c.121-?_2781+?dup - ATP7A_000322 - PubMed: Mogensen 2011 - - Germline - - - - - Zeynep Tümer
+/+? 1 2i_16i c.(120+1_121-1)_(3294+1_3295-1)del r.121_3294del p.? - - pathogenic (recessive) g.(77227262_77243740)_(77287082_77289103)del g.(77971765_77988244)_(78031584_78033605)del c.121-?_3294+?del - ATP7A_000215 - PubMed: Tümer 2003 - - Germline - - - - - Zeynep Tümer
+/+? 1 2i_17i c.(120+1_121-1)_(3511+1_3512-1)dup r.? p.? - - pathogenic (recessive) g.(77227262_77243740)_(77289320_77294333)dup g.(77971765_77988244)_(78033822_78038835)dup c.121-?_3511+?dup - ATP7A_000323 - PubMed: Mogensen 2011 - - Germline - - - - - Zeynep Tümer
+/+? 1 2i_20i c.(120+1_121-1)_(4005+1_4006-1)del r.? p.? - - pathogenic (recessive) g.(77227262_77243740)_(77298287_77298814)del g.(77971765_77988244)_(78042789_78043316)del c.121-?_4005+?del - ATP7A_000216 - PubMed: Moizard 2010 - - Germline - - - - - Zeynep Tümer
+/+? 4 2i_23_ c.(120+1_121-1)_*3825{0} r.? p.? - - pathogenic (recessive) g.(77227262_77243740)_(77305892_?)del g.(77971765_77988244)_(78050395_?)del c.121-?_8333+?del - ATP7A_000217 gonadal mosaicism, mother normal PubMed: Tümer 1994b, PubMed: Tümer 2003, PubMed: Tümer 2003 - - De novo, Germline, Somatic - - - - - Zeynep Tümer
-?/. 1 - c.145A>G r.(?) p.(Thr49Ala) - - likely benign g.77243762A>G g.77988266A>G ATP7A(NM_000052.6):c.145A>G (p.T49A) - ATP7A_000365 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.146C>T r.(?) p.(Thr49Ile) - - VUS g.77243763C>T g.77988267C>T ATP7A(NM_000052.6):c.146C>T (p.T49I) - PGAM4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.168A>G r.(?) p.(Leu56=) - - likely benign g.77243785A>G - ATP7A(NM_000052.6):c.168A>G (p.L56=) - PGAM4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.214G>A r.(?) p.(Asp72Asn) - - VUS g.77243831G>A g.77988335G>A ATP7A(NM_000052.6):c.214G>A (p.D72N) - ATP7A_000366 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/-?, -/., -?/? 5 3 c.327G>A r.(?) p.(Lys109=) - - benign, likely benign g.77243944G>A g.77988448G>A 472G>A (K109K), ATP7A(NM_000052.6):c.327G>A (p.K109=), K109K - ATP7A_000281 VKGL data sharing initiative Nederland, 1 more item PubMed: Poulsen 2002a, PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - - - - - Zeynep Tümer, VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_AMC
+/+? 1 3 c.408_415del r.408_415del p.(Asn137Lysfs*22) - - pathogenic (recessive) g.77244025_77244032del g.77988529_77988536del 408_415delCAATCAGA - ATP7A_000002 Normal size (frame shift) PubMed: Gerard-Blanluet 2004 - - De novo - - - - - Zeynep Tümer
-/. 1 - c.491G>A r.(?) p.(Ser164Asn) - - benign g.77244108G>A g.77988612G>A ATP7A(NM_000052.6):c.491G>A (p.S164N) - ATP7A_000368 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+?, ./. 3 3 c.499C>T r.(?) p.(Gln167*) - - pathogenic (recessive), VUS g.77244116C>T g.77988620C>T 644C>T (Q167X), C644>T - ATP7A_000055 Decreased level with NB PubMed: Das 1994 PubMed: Bell 2011, PubMed: Gu 2001 - - Germline - - - - - Gerard C.P. Schaafsma, Zeynep Tümer
+/+? 1 3 c.521del r.(?) p.(Lys174Argfs*2) - - pathogenic (recessive) g.77244138del g.77988642del 521delA - ATP7A_000003 - Tümer 2011 - - Germline - - - - - Zeynep Tümer
+/+? 1 3 c.526_529dup r.(?) p.(Val177Glufs*12) - - pathogenic (recessive) g.77244143_77244146dup g.77988647_77988650dup 177insAAG - ATP7A_000004 - PubMed: Tümer 1997 - - Germline - - - - - Zeynep Tümer
?/. 1 - c.532G>A r.(?) p.(Glu178Lys) - - VUS g.77244149G>A g.77988653G>A - - PGAM4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+? 1 3 c.532G>T r.(?) p.(Glu178*) - - pathogenic (recessive) g.77244149G>T g.77988653G>T - - ATP7A_000056 Affected females in the family PubMed: Moller 2012 - - Germline - - - - - Zeynep Tümer
?/. 1 - c.553T>C r.(?) p.(Cys185Arg) - - VUS g.77244170T>C g.77988674T>C ATP7A(NM_000052.6):c.553T>C (p.C185R) - ATP7A_000369 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., -?/. 3 - c.565A>G r.(?) p.(Ile189Val) - - benign, likely benign g.77244182A>G g.77988686A>G 1 more item - ATP7A_000370 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_AMC
+/+? 1 3 c.589C>T r.(?) p.(Gln197*) - - pathogenic (recessive) g.77244206C>T g.77988710C>T Q197X - ATP7A_000057 Mutation not described at sequence level in the manuscript PubMed: Kaler 2010 - - Germline - - - - - Zeynep Tümer
+/+? 1 3 c.601C>T r.(?) p.(Arg201*) - - pathogenic (recessive) g.77244218C>T g.77988722C>T nucleotide 746 CGA>UGA - ATP7A_000058 1 more item PubMed: Kaler 2009, PubMed: Kaler 2010 - - Germline - - - - - Zeynep Tümer
-/., -?/. 2 - c.610+8G>A r.(=) p.(=) - - benign, likely benign g.77244235G>A g.77988739G>A ATP7A(NM_000052.5):c.610+8G>A (p.(=)), ATP7A(NM_000052.6):c.610+8G>A - ATP7A_000371 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
+/+? 1 3i_4i c.(610+1_611-1)_(1336+1_1337-1)del r.? p.? - - pathogenic (recessive) g.(77244228_77244728)_(77245455_77253974)del g.(77988732_77989232)_(77989959_77998477)del c.611-?_1336+?del - ATP7A_000218 - PubMed: Tümer 2003 - - Germline - - - - - Zeynep Tümer
-?/. 1 - c.637A>G r.(?) p.(Ile213Val) - - likely benign g.77244755A>G g.77989259A>G ATP7A(NM_000052.6):c.637A>G (p.I213V) - ATP7A_000372 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.645T>C r.(?) p.(Tyr215=) - - likely benign g.77244763T>C g.77989267T>C ATP7A(NM_000052.6):c.645T>C (p.Y215=) - PGAM4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+?, ./. 2 4 c.657_661del r.(?), r.657_661del p.(Ile220Serfs*9) - - pathogenic (recessive), VUS g.77244775_77244779del g.77989279_77989283del chrX:77131431_77131435delATCTT, ATCTT deletion from 798-802 - ATP7A_000005 decreased mRNA level with NB PubMed: Das 1994 - - Germline - - - - - Gerard C.P. Schaafsma, Zeynep Tümer
+/+?, ./. 2 4 c.659_663del r.(?), r.659_663del p.(Ile220Serfs*9) - - pathogenic (recessive), VUS g.77244777_77244781del g.77989281_77989285del EXON 3, C.658_662DELATCTC, I220FS, CHRX:77131432_77131436DELATCTC, ATCTC deletion from 803-807 - ATP7A_000006 decreased mRNA level with NB PubMed: Das 1994, PubMed: Vulpe 1993 - - Germline - - - - - Gerard C.P. Schaafsma, Zeynep Tümer
+/+? 1 4 c.659_666del r.(?) p.(Ile220Argfs*8) - - pathogenic (recessive) g.77244777_77244784del g.77989281_77989288del 659_666delTCTCAGTA - ATP7A_000007 - Tümer 2011 - - Germline - - - - - Zeynep Tümer
?/. 1 - c.673A>G r.(?) p.(Met225Val) - - VUS g.77244791A>G - ATP7A(NM_000052.6):c.673A>G (p.M225V) - ATP7A_000373 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+? 1 4 c.693del r.(?) p.(Met232Trpfs*21) - - pathogenic (recessive) g.77244811del g.77989315del 693delT - ATP7A_000008 - Tümer 2011 - - Germline - - - - - Zeynep Tümer
+/+? 1 4 c.721C>T r.611_1336del p.? 2 MBD lacking - pathogenic (recessive) g.77244839C>T g.77989343C>T - - ATP7A_000059 Skips Ex4 (in-frame) PubMed: Moizard 2010 - - Germline - - - - - Zeynep Tümer
+/+? 1 4 c.890del r.890del p.(Ser297Ilefs*9) - - pathogenic (recessive) g.77245008del g.77989512del Del G in codon 297 - ATP7A_000009 Normal size (frame shift) PubMed: Tümer 1996, PubMed: George and Casey 2001 - - Germline - - - - - Zeynep Tümer
?/. 2 - c.961T>C r.(?) p.(Tyr321His) - - VUS g.77245079T>C - ATP7A(NM_000052.6):c.961T>C (p.Y321H) - PGAM4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/-? 1 4 c.1007A>T r.(?) p.(Glu336Val) - - benign g.77245125A>T - 1152T>A (Val336Glu) - ATP7A_000276 - PubMed: Hahn 2001 - - Germline - - - - - Zeynep Tümer
-/., -?/., ?/? 5 4 c.1009G>A r.(?) p.(Ala337Thr) - - benign, likely benign, VUS g.77245127G>A g.77989631G>A A337T, 1 more item - ATP7A_000312 VKGL data sharing initiative Nederland, 1 more item PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - - - - - Zeynep Tümer, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
+/+? 1 4 c.1028dup r.(?) p.(Tyr343*) - - pathogenic (recessive) g.77245146dup g.77989650dup 1173 ins A - ATP7A_000010 - PubMed: Ogawa 1999 - - Germline - - - - - Zeynep Tümer
?/. 1 - c.1072C>T r.(?) p.(Pro358Ser) - - VUS g.77245190C>T - - - PGAM4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1128A>C r.(?) p.(Thr376=) - - benign g.77245246A>C g.77989750A>C ATP7A(NM_000052.6):c.1128A>C (p.T376=) - ATP7A_000376 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+? 1 4 c.1135del r.(?) p.(Thr379Leufs*2) - - pathogenic (recessive) g.77245253del g.77989757del 379delA - ATP7A_000011 - PubMed: Tümer 1997 - - Germline - - - - - Zeynep Tümer
+/. 1 - c.1139_1140del r.(?) p.(Val380AspfsTer4) - - pathogenic g.77245257_77245258del g.77989761_77989762del ATP7A(NM_000052.6):c.1139_1140delTG (p.V380Dfs*4) - ATP7A_000377 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1145dup r.(?) p.(Asn382LysfsTer3) - - pathogenic g.77245263dup g.77989767dup ATP7A(NM_000052.6):c.1145dupA (p.N382Kfs*3) - ATP7A_000378 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1179G>T r.(?) p.(Gln393His) - - VUS g.77245297G>T g.77989801G>T ATP7A(NM_000052.5):c.1179G>T (p.(Gln393His)) - ATP7A_000379 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+? 1 4 c.1189_1192del r.(?) p.(Gly397Serfs*8) - - pathogenic (recessive) g.77245307_77245310del g.77989811_77989814del 1189_1192delGGTG - ATP7A_000012 - Tümer 2011 - - Germline - - - - - Zeynep Tümer
?/. 1 - c.1198T>A r.(?) p.(Ser400Thr) - - VUS g.77245316T>A - - - PGAM4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+? 3 4 c.1225C>T r.(?) p.(Arg409*) - - pathogenic (recessive) g.77245343C>T g.77989847C>T Arg409Ter (CGA>TGA) - ATP7A_000060 - Tümer 2011, PubMed: Tümer 1997 - - De novo - - - - - Zeynep Tümer
+/+? 1 4 c.1234del r.(?) p.(Ala413Glnfs*13) - - pathogenic (recessive) g.77245352del g.77989856del 412delC - ATP7A_000013 - PubMed: Tümer 1997 - - Germline - - - - - Zeynep Tümer
-?/. 1 - c.1270C>T r.(?) p.(Leu424=) - - likely benign g.77245388C>T g.77989892C>T ATP7A(NM_000052.6):c.1270C>T (p.L424=) - ATP7A_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/-?, -/. 2 4 c.1299A>T r.(?) p.(Gly433=) - - benign g.77245417A>T g.77989921A>T 1444A>T (G433G), ATP7A(NM_000052.6):c.1299A>T (p.G433=) - ATP7A_000282, ATP7A_000381 VKGL data sharing initiative Nederland PubMed: Gu 2001 - - CLASSIFICATION record, Germline - - - - - Zeynep Tümer, VKGL-NL_Rotterdam
?/. 1 - c.1301C>A r.(?) p.(Ala434Glu) - - VUS g.77245419C>A - - - ATP7A_000421 - PubMed: Fliedner 2020, Journal: Fliedner 2020 - - Unknown - - - - - Johan den Dunnen
?/. 1 - c.1303A>G r.(?) p.(Ile435Val) - - VUS g.77245421A>G g.77989925A>G ATP7A(NM_000052.6):c.1303A>G (p.I435V) - ATP7A_000382 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+? 1 4 c.1329del r.(?) p.(Leu444Cysfs*9) - - pathogenic (recessive) g.77245447del g.77989951del 1474delC - ATP7A_000315 - PubMed: Gu 2012 - - Germline - - - - - Zeynep Tümer
-?/. 1 - c.1337-4C>T r.spl? p.? - - likely benign g.77253971C>T g.77998474C>T ATP7A(NM_000052.5):c.1337-4C>T (p.?) - PGAM4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+? 1 4i_6i c.(1336+1_1337-1)_(1707+1_1708-1)dup r.[=,1337_1707dup] p.? - - pathogenic (recessive) g.(77245455_77253974)_(77258736_77264600)dup g.(77989959_77998477)_(78003239_78009103)dup c.1337-?_1707+?dup - ATP7A_000317 - PubMed: Mogensen 2011 - - Germline - - - - - Zeynep Tümer
+/+? 2 4i_7i, 4i_8i c.(1336+1_1337-1)_(1869+1_1870-1)del r.[1337_1869del,1337_1946del] p.? - - pathogenic (recessive) g.(77245455_77253974)_((77264761_77266672)del g.(77989959_77998477)_((78009264_78011175)del c.1337-?_1869+?del, del ex5-8 - ATP7A_000219 - PubMed: Poulsen 2002b, PubMed: Tümer 2003 - - Germline - - - - - Zeynep Tümer
+/+? 1 4i_7i c.(1336+1_1337-1)_(1869+1_1870-1)dup r.[=,1337_1869dup] p.? - - pathogenic (recessive) g.(77245455_77253974)_((77264761_77266672)dup g.(77989959_77998477)_((78009264_78011175)dup c.1337-?_1869+?dup - ATP7A_000321 r.1337_1869dup (frame shift); r.= (wild-type) PubMed: Mogensen 2011 - - Germline - - - - - Zeynep Tümer
+/+? 1 4i_12i c.(1336+1_1337-1)_(2626+1_2627-1)del r.1337_2626del p.? - - pathogenic (recessive) g.(77245455_77253974)_(77271380_77275741)del g.(77989959_77998477)_(78015883_78020244)del c.1337-?_2626+?del - ATP7A_000221 - PubMed: Tümer 1994a, PubMed: 7807930, PubMed: Tümer 2003 - - Germline - - - - - Zeynep Tümer
+/+? 1 4i_18i c.(1336+1_1337-1)_(3658+1_3659-1)del r.? p.? - - pathogenic (recessive) g.(77245455_77253974)_(77294481_77296088)del g.(77989959_77998477)_(78038983_78040590)del c.1337-?_3658+?del - ATP7A_000222 - PubMed: Tümer 2003 - - Germline - - - - - Zeynep Tümer
+/+? 1 4i_23_ c.(1336+1_1337-1)_*3825{0} r.? p.? - - pathogenic (recessive) g.(77245455_77253974)_(77305892_?)del g.(77989959_77998477)_(78050395_?)del c.1337-?_5729+?del - ATP7A_000223 - PubMed: Tümer 2003 - - Germline - - - - - Zeynep Tümer
-?/. 1 - c.1384C>G r.(?) p.(Pro462Ala) - - likely benign g.77254022C>G - ATP7A(NM_000052.6):c.1384C>G (p.P462A) - PGAM4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1385C>T r.(?) p.(Pro462Leu) - - likely benign g.77254023C>T g.77998526C>T ATP7A(NM_000052.6):c.1385C>T (p.P462L) - PGAM4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/-? 1 5 c.1387C>T r.(?) p.(Leu463Phe) - - benign g.77254025C>T g.77998528C>T 1535C>T (L464L) - ATP7A_000284 - PubMed: Ogawa 2000, PubMed: Gu 2001, PubMed: Hahn 2001, PubMed: Watanabe 2005 - - Germline - - - - - Zeynep Tümer
-?/. 1 - c.1427C>T r.(?) p.(Thr476Ile) - - likely benign g.77254065C>T g.77998568C>T ATP7A(NM_000052.5):c.1427C>T (p.(Thr476Ile)) - PGAM4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1453A>G r.(?) p.(Lys485Glu) - - VUS g.77254091A>G g.77998594A>G ATP7A(NM_000052.6):c.1453A>G (p.K485E) - ATP7A_000383 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+? 1 5 c.1460C>A r.(?) p.(Ser487*) - - pathogenic (recessive) g.77254098C>A g.77998601C>A 1605C>A (S487X) - ATP7A_000061 - PubMed: Gu 2001 - - Germline - - - - - Zeynep Tümer
+/+? 1 5 c.(1475T>C) r.(?) p.(Ile492Thr) - - pathogenic (recessive) g.(77254113T>C) - - - ATP7A_000299 mouse model (1448T>C (Ile483Thr)) J:153280 (The Jackson Laboratory) - - animal model - - - - - Zeynep Tümer
?/. 1 - c.1493C>G r.(?) p.(Thr498Ser) - - VUS g.77254131C>G g.77998634C>G - - PGAM4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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