All variants in the ATP7A gene

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

611 entries on 7 pages. Showing entries 1 - 100.
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Effect     

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     
+/+? _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 - ATP7A_000206 - PubMed: Tümer 2003 - - Germline - - - 0 - Zeynep Tümer
+/+? _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 - ATP7A_000206 - PubMed: Tümer 2003, PubMed: Moller 2012 - - Germline - - - 0 - Zeynep Tümer
+/+? _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 - ATP7A_000206 - PubMed: Tümer 2003 - - Germline - - - 0 - Zeynep Tümer
+/+? _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 del ex1 - ATP7A_000206 no ATP7A signal in patient fibroblasts PubMed: Kaler 2008, PubMed: Kaler 2010 - - Germline - - - 0 - Zeynep Tümer
+/+? _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 - ATP7A_000206 - PubMed: Moizard 2010 - - Germline - - - 0 - Zeynep Tümer
-/-? 1 c.-55C>T r.(?) p.(=) - - benign g.77166299C>T - 91T>C - ATP7A_000279 - Tumer unpublished, PubMed: Gu 2001, PubMed: Watanabe 2005 - - Germline - - - 0 - Zeynep Tümer
-?/. - 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
./. - c.-22+117T>C r.(=) p.(=) - - VUS g.77166449T>C g.77910952T>C - - ATP7A_000354 - - - - Germline - - - - - Yu Sun
./. - c.-22+117T>C r.(=) p.(=) - - VUS g.77166449T>C g.77910952T>C - - ATP7A_000354 - - - - Germline - - - - - Yu Sun
./. - c.-21-3660_1336del r.spl? p.? - - pathogenic g.77223458_77245454del g.77967961_77989957del ATP7A - ATP7A_000416 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
-?/. - 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 - - - 0 - VKGL-NL_Leiden
-?/. - 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
?/. - 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 - - - 0 - VKGL-NL_Leiden
./. - 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 - 0 - Lucy Raymond
?/. - 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
?/. - 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 - - - 0 - VKGL-NL_Leiden
-?/. - c.-21-2100G>A r.(=) p.(=) - - likely benign g.77225018G>A g.77969521G>A - - ATP7A_000412 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - 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
./. - 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 - 0 - Lucy Raymond
+/+? 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 - - De novo - - - 0 - Zeynep Tümer
+/+? 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 2003 - - Germline - - - 0 - Zeynep Tümer
+/+? 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 2003 - - Germline - - - 0 - Zeynep Tümer
+/+? 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 - - - 0 - Zeynep Tümer
+/+? 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 - - - 0 - Zeynep Tümer
+/+? 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 - - - 0 - Zeynep Tümer
+/+? 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 - - - 0 - Zeynep Tümer
+/+? 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 - - - 0 - Zeynep Tümer
+/+? 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 - - - 0 - Zeynep Tümer
-/-? _1 - r.(=) p.(=) - - benign g.77165059del - ins -1157C - ATP7A_000261 - PubMed: Gu 2001 - - Germline - - - 0 - Zeynep Tümer
-/-? _1 - r.(=) p.(=) - - benign g.77165117_77165118delinsGT - -1099--1098GT>AG - ATP7A_000262 - PubMed: Gu 2001 - - Germline - - - 0 - Zeynep Tümer
-/-? _1 - r.(=) p.(=) - - benign g.77165176_77165177delinsCC - -1040--1039CC>AA - ATP7A_000263 - PubMed: Gu 2001 - - Germline - - - 0 - Zeynep Tümer
-/-? _1 - r.(=) p.(=) - - benign g.77165183C>A - -1033A>C - ATP7A_000264 - PubMed: Gu 2001 - - Germline - - - 0 - Zeynep Tümer
-/-? _1 - r.(=) p.(=) - - benign g.77165186C>A - -1030A>C - ATP7A_000265 - PubMed: Gu 2001 - - Germline - - - 0 - Zeynep Tümer
-/-? _1 - r.(=) p.(=) - - benign g.77165244_77165245insCC - del -971--970CC - ATP7A_000266 - PubMed: Gu 2001 - - Germline - - - 0 - Zeynep Tümer
-/-? _1 - r.(=) p.(=) - - benign g.77165279_77165280insGGG - del -934--932GGG - ATP7A_000267 - PubMed: Gu 2001 - - Germline - - - 0 - Zeynep Tümer
-/-? _1 - r.(=) p.(=) - - benign g.77165286dup - del -927T - ATP7A_000268 - PubMed: Gu 2001 - - Germline - - - 0 - Zeynep Tümer
-/-? _1 - r.(=) p.(=) - - benign g.77165291dup - del -921A - ATP7A_000269 - PubMed: Gu 2001 - - Germline - - - 0 - Zeynep Tümer
-/-? _1 - r.(=) p.(=) - - benign g.77165329del - ins -881C - ATP7A_000270 - PubMed: Gu 2001 - - Germline - - - 0 - Zeynep Tümer
-/-? _1 - r.(=) p.(=) - - benign g.77165362_77165363delinsGC - -842--847GC>CG - ATP7A_000271 - PubMed: Gu 2001 - - Germline - - - 0 - Zeynep Tümer
-/-? _1 - r.(=) p.(=) - - benign g.77166018A>G - -192G>A - ATP7A_000273 - PubMed: Gu 2001 - - Germline - - - 0 - Zeynep Tümer
-/-? _1 - r.(=) p.(=) - - benign g.77166073dup - del -136T - ATP7A_000274 - PubMed: Gu 2001 - - Germline - - - 0 - Zeynep Tümer
+/+? 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 - - - 0 - Zeynep Tümer
+/+? 22i_23_ c.((4226+1_4227-1)_(*1100_*1400)del) r.? p.? - - pathogenic (recessive) (g.(77301070_77301790)_(77303167_77303467)del) - 1440 bp genomic deletion including IVS22 and part of exon 23, leading to splice defect. Predicted in 91 aminoacid deletion at C-terminal - ATP7A_000309 mouse model (4200-?_?del1400?), reduced levels of transcript with Northern blot PubMed: Mototani 2006 - - animal model - - - 0 - Zeynep Tümer
+/+? _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 deletion promoter/exon 1 - ATP7A_000297 mouse model; 1.8 kb deletion including exon 1 and promoter region (-123-u1800?_-19+?del); reduced transcript levels PubMed: Levinson 1994, PubMed: Mercer 1994, PubMed: Levinson 1997, PubMed: Cunliffe 2001 - - animal model - - - 0 - Zeynep Tümer
+/+? 8i c.(?) r.(?) p.= - - pathogenic (recessive) g.? - IVS8-9A>T - ATP7A_000278 Zebra fish model. Cryptic splice acceptor in intron8 inserting 7 bp leading to frameshift and PT at AA 674. Near complete loss of ATP7A PubMed: Mendelsohn 2006, PubMed: Madsen 2008b - - Germline - - - 0 - Zeynep Tümer
+/+? _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.-160u-646?_-160u-548?del - ATP7A_000001 Deletion of one of the three 98-bp tandem repeats in the promoter region; normal levels with qRT-PCR. No effect on the site of transcription initiation, termination, splicing. PubMed: Levinson 1996 - - Germline - - - 0 - Zeynep Tümer
-/-? 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 - - - 0 - Zeynep Tümer
-/-? 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 - - - 0 - Zeynep Tümer
+/+? 18 c.3560^3561G>A r.(?) p.(Trp1187*) - - pathogenic (recessive) g.77294382^77294383G>A - W1187X - ATP7A_000085 Mutation not described at sequence level in the manuscript. Should either be c.3560G>A or c.2361G>A PubMed: Kaler 2010 - - Germline - - - 0 - Zeynep Tümer
+/+? - c.? r.? p.? - - pathogenic (recessive) g.? - 46,XX/45,X (13/16) - ATP7A_000254 - PubMed: Gerdes 1990 - - Germline - - - 0 - Zeynep Tümer
+/+? - c.? r.? p.? - - pathogenic (recessive) g.? - 46,X,t(X;2)(q13;q32.2)de novo - ATP7A_000255 - PubMed: Kapur 1987; PubMed: Verga 1991; PubMed: Tümer 1992b - - De novo - - - 0 - Zeynep Tümer
+/+? - c.? r.? p.? - - pathogenic (recessive) g.? - 46,XY,ins(X)(p11.4q13.3q21.2)mat - ATP7A_000256 - PubMed: Tümer 1992a - - Germline - - - 0 - Zeynep Tümer
+/+? - c.? r.? p.? - - pathogenic (recessive) g.? - 46,X,t(X;1)(q13;q12)de novo - ATP7A_000257 - PubMed: Beck 1994 - - De novo - - - 0 - Zeynep Tümer
+/+? - c.? r.? p.? - - pathogenic (recessive) g.? - 46,X,t(X;21)(q13.3;p11.1)de novo - ATP7A_000258 - PubMed: Sugio 1998 - - De novo - - - 0 - Zeynep Tümer
+/+? - c.? r.? p.? - - pathogenic (recessive) g.? - 46,X,t(X;13)(q13.3;q14.3)de novo - ATP7A_000259 - PubMed: Abusaad 1999 - - De novo - - - 0 - Zeynep Tümer
+/+? - c.? r.? p.? - - pathogenic (recessive) g.? - 46,X,t(X;16)(q13.3;p11.2)de novo - ATP7A_000260 - PubMed: Sirleto 2009 - - De novo - - - 0 - Zeynep Tümer
-/-? - c.? r.? p.? - - benign g.? - -660--659GG>AA - ATP7A_000272 - PubMed: Gu 2001 - - Germline - - - 0 - Zeynep Tümer
-/-? - c.? r.? p.? - - benign g.? - -45G>G or T - ATP7A_000275 - PubMed: Gu 2001 - - Germline - - - 0 - Zeynep Tümer
?/. - 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
+/+? 2i_4i c.(120+1_121-1)_(1336+1_1337-1)del r.121_1336del 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: Poulsen 2000b, PubMed: Paulsen 2006 - - Germline - - - 0 - Zeynep Tümer
+/+? 2i_4i c.(120+1_121-1)_(1336+1_1337-1)del r.? p.? - - pathogenic (recessive) g.(77227262_77243740)_(77245455_77253974)del g.(77971765_77988244)_(77989959_77998477)del c.121-?_1336+?del - ATP7A_000213 - PubMed: Tümer 2003 - - Germline - - - 0 - Zeynep Tümer
+/+? 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 - - - 0 - Zeynep Tümer
+/+? 2i_5i c.(120+1_121-1)_(1543+1_1544-1)dup r.121_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 PubMed: Moizard 2010 - - Germline - - - 0 - Zeynep Tümer
+/+? 2i_5i c.(120+1_121-1)_(1543+1_1544-1)dup 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 wild type; r.121_1543dup (ex3-5, frame shift); r.1337_1543dup (ex5, in-frame) PubMed: Mogensen 2011 - - Germline - - - 0 - Zeynep Tümer
+/+? 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 - - - 0 - Zeynep Tümer
+/+? 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 - - - 0 - Zeynep Tümer
+/+? 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 - - - 0 - Zeynep Tümer
+/+? 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 - - - 0 - Zeynep Tümer
+/+? 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 - - - 0 - Zeynep Tümer
+/+? 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 - - - 0 - Zeynep Tümer
+/+? 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 - PubMed: Tümer 1994b, PubMed: Tümer 2003 - - Germline - - - 0 - Zeynep Tümer
+/+? 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 - PubMed: Tümer 2003 - - Germline - - - 0 - Zeynep Tümer
+/+? 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 - PubMed: Tümer 2003 - - De novo - - - 0 - Zeynep Tümer
+/+? 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 2003 - - Somatic - - - 0 - Zeynep Tümer
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - 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
-?/. - 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
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-/. - c.327G>A r.(?) p.(Lys109=) - - benign g.77243944G>A g.77988448G>A ATP7A(NM_000052.6):c.327G>A (p.K109=) - ATP7A_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.327G>A r.(?) p.(Lys109=) - - benign g.77243944G>A g.77988448G>A ATP7A(NM_000052.6):c.327G>A (p.K109=) - ATP7A_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.327G>A r.(?) p.(Lys109=) - - benign g.77243944G>A - ATP7A(NM_000052.6):c.327G>A (p.K109=) - ATP7A_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/-? 3 c.327G>A r.(?) p.(Lys109=) - - benign g.77243944G>A g.77988448G>A 472G>A (K109K) - ATP7A_000281 - PubMed: Poulsen 2002a - - Germline - - - 0 - Zeynep Tümer
-?/? 3 c.327G>A r.(?) p.(Lys109=) - - likely benign g.77243944G>A g.77988448G>A K109K - ATP7A_000281 recurrent, found 2 times; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) PubMed: Tarpey 2009 - - Germline - - - 0 - Zeynep Tümer
+/+? 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 - - - 0 - Zeynep Tümer
-/. - 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 - - - 0 - VKGL-NL_Rotterdam
./. - c.499C>T r.(?) p.(Gln167*) - - VUS g.77244116C>T g.77988620C>T - - ATP7A_000055 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/+? 3 c.499C>T r.(?) p.(Gln167*) - - pathogenic (recessive) g.77244116C>T g.77988620C>T C644>T - ATP7A_000055 Decreased level with NB PubMed: Das 1994 PubMed: Bell 2011 - - Germline - - - 0 - Zeynep Tümer
+/+? 3 c.499C>T r.(?) p.(Gln167*) - - pathogenic (recessive) g.77244116C>T g.77988620C>T 644C>T (Q167X) - ATP7A_000055 - PubMed: Gu 2001 - - Germline - - - 0 - Zeynep Tümer
+/+? 3 c.521del r.(?) p.(Lys174Argfs*2) - - pathogenic (recessive) g.77244138del g.77988642del 521delA - ATP7A_000003 - Tümer 2011 - - Germline - - - 0 - Zeynep Tümer
+/+? 3 c.526_529dup r.(?) p.(Val177Glufs*12) - - pathogenic (recessive) g.77244143_77244146dup g.77988647_77988650dup 177insAAG - ATP7A_000004 - PubMed: Tümer 1997 - - Germline - - - 0 - Zeynep Tümer
?/. - 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
+/+? 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 - - - 0 - Zeynep Tümer
?/. - 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 - - - 0 - VKGL-NL_VUmc
-/. - c.565A>G r.(?) p.(Ile189Val) - - benign g.77244182A>G g.77988686A>G ATP7A(NM_000052.5):c.565A>G (p.(Ile189Val)), ATP7A(NM_000052.6):c.565A>G (p.I189V), ATP7A(NM_000052.7):c.565A>G (p.I189V) - ATP7A_000370 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.565A>G r.(?) p.(Ile189Val) - - benign g.77244182A>G g.77988686A>G ATP7A(NM_000052.5):c.565A>G (p.(Ile189Val)), ATP7A(NM_000052.6):c.565A>G (p.I189V), ATP7A(NM_000052.7):c.565A>G (p.I189V) - ATP7A_000370 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.565A>G r.(?) p.(Ile189Val) - - likely benign g.77244182A>G g.77988686A>G ATP7A(NM_000052.5):c.565A>G (p.(Ile189Val)), ATP7A(NM_000052.6):c.565A>G (p.I189V), ATP7A(NM_000052.7):c.565A>G (p.I189V) - ATP7A_000370 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+? 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 - - - 0 - Zeynep Tümer
+/+? 3 c.601C>T r.(?) p.(Arg201*) - - pathogenic (recessive) g.77244218C>T g.77988722C>T nucleotide 746 CGA>UGA - ATP7A_000058 read-through translation (nonsense suppression). Small amounts of full-length protein.; ATP7A normal localization in TGN; sufficient complementation resulting in functional copper transport PubMed: Kaler 2009, PubMed: Kaler 2010 - - Germline - - - 0 - Zeynep Tümer
-?/. - c.610+8G>A r.(=) p.(=) - - 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 - - - 0 - VKGL-NL_Leiden
-/. - c.610+8G>A r.(=) p.(=) - - 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_AMC
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