Loading Data . . .

EmVClass

NTD Genetics' Variant Classification Catalog

Please enter the official gene symbol and click Search to see all the variants that have been seen and analyzed by NTD Genetics for that gene.
NTD Genetics classification definitions may be reviewed here.
You may submit a question regarding a variant by clicking the appropriate button on the returned data table.
You may prompt a review of a variant of unknown signifigance (VOUS) reviewed greater than six months ago by clicking the appropriate button on the returned data table.
If a reported variant has changed classification, you may request an amended report by clicking here.
OrderGeneExonNucleotide ChangeProtein ChangeAlias ListingClassificationLast Reviewed  
1ATP7BEx2NM_000053.3:c.98T>Cp.Met33Thr | p.M33TNM_000053.2:c.98T>C, NM_000053.3:c.98T>C, NM_001005918.1:c.98T>C, NM_001005918.2:c.98T>C, NM_001243182.1:c.98T>C, XM_005266423.1:c.2T>C, XM_005266424.1:c.2T>C, XM_005266425.1:c.98T>C, XM_005266426.1:c.98T>C, XM_005266427.1:c.98T>C, XM_005266428.1:c.98T>C, XM_005266429.1:c.98T>C, XM_005266430.1:c.98T>C, XM_005266431.1:c.62T>C, XM_005266432.1:c.98T>C, XM_005266433.1:c.98T>C, XM_005266434.1:c.-4640T>C, XR_245388.1:n.317T>CVOUS03/11/2015
2ATP7BEx2NM_000053.3:c.122A>Gp.Asn41Ser | p.N41SNM_000053.2:c.122A>G, NM_000053.3:c.122A>G, NM_001005918.1:c.122A>G, NM_001005918.2:c.122A>G, NM_001243182.1:c.122A>G, XM_005266423.1:c.26A>G, XM_005266424.1:c.26A>G, XM_005266425.1:c.122A>G, XM_005266426.1:c.122A>G, XM_005266427.1:c.122A>G, XM_005266428.1:c.122A>G, XM_005266429.1:c.122A>G, XM_005266430.1:c.122A>G, XM_005266431.1:c.86A>G, XM_005266432.1:c.122A>G, XM_005266433.1:c.122A>G, XM_005266434.1:c.-4616A>G, XR_245388.1:n.341A>GLikely pathogenic04/28/2016 
3ATP7BEx2NM_000053.3:c.245A>Gp.Asn82Ser | p.N82SNM_000053.2:c.245A>G, NM_000053.3:c.245A>G, NM_001005918.1:c.245A>G, NM_001005918.2:c.245A>G, NM_001243182.1:c.245A>G, XM_005266423.1:c.149A>G, XM_005266424.1:c.149A>G, XM_005266425.1:c.245A>G, XM_005266426.1:c.245A>G, XM_005266427.1:c.245A>G, XM_005266428.1:c.245A>G, XM_005266429.1:c.245A>G, XM_005266430.1:c.245A>G, XM_005266431.1:c.209A>G, XM_005266432.1:c.245A>G, XM_005266433.1:c.245A>G, XM_005266434.1:c.-4493A>G, XR_245388.1:n.464A>GVOUS05/30/2017
4ATP7BEx2NM_000053.3:c.628A>Gp.Ile210Val | p.I210VVOUS02/26/2013
5ATP7BEx2NM_000053.3:c.802_808delTGTAAGTp.Cys268Leufs*4 | p.C268LfsX4NM_000053.2:c.802_808delTGTAAGT, NM_000053.3:c.802_808delTGTAAGT, NM_001005918.1:c.802_808delTGTAAGT, NM_001005918.2:c.802_808delTGTAAGT, NM_001243182.1:c.802_802+6delTGTAAGT, XM_005266423.1:c.706_712delTGTAAGT, XM_005266424.1:c.706_712delTGTAAGT, XM_005266425.1:c.802_808delTGTAAGT, XM_005266426.1:c.802_808delTGTAAGT, XM_005266427.1:c.802_808delTGTAAGT, XM_005266428.1:c.802_808delTGTAAGT, XM_005266429.1:c.802_808delTGTAAGT, XM_005266430.1:c.802_808delTGTAAGT, XM_005266431.1:c.766_772delTGTAAGT, XM_005266432.1:c.802_808delTGTAAGT, XM_005266433.1:c.802_808delTGTAAGT, XM_005266434.1:c.-3936_-3930delTGTAAGT, XR_245388.1:n.1021_1027delTGTAAGTPathogenic12/06/2018 
6ATP7BEx2NM_000053.3:c.813C>Ap.Cys271* | p.C271XNM_000053.2:c.813C>A, NM_000053.3:c.813C>A, NM_001005918.1:c.813C>A, NM_001005918.2:c.813C>A, NM_001243182.1:c.802+11C>A, XM_005266423.1:c.717C>A, XM_005266424.1:c.717C>A, XM_005266425.1:c.813C>A, XM_005266426.1:c.813C>A, XM_005266427.1:c.813C>A, XM_005266428.1:c.813C>A, XM_005266429.1:c.813C>A, XM_005266430.1:c.813C>A, XM_005266431.1:c.777C>A, XM_005266432.1:c.813C>A, XM_005266433.1:c.813C>A, XM_005266434.1:c.-3925C>A, XR_245388.1:n.1032C>APathogenic10/26/2016 
7ATP7BEx2NM_000053.3:c.915T>Ap.Cys305* | p.C305XPathogenic09/07/2012 
8ATP7BEx2NM_000053.3:c.999G>Tp.Gly333= | p.G333=NM_000053.2:c.999G>T, NM_000053.3:c.999G>T, NM_001005918.1:c.999G>T, NM_001005918.2:c.999G>T, NM_001243182.1:c.803-137G>T, XM_005266423.1:c.903G>T, XM_005266424.1:c.903G>T, XM_005266425.1:c.999G>T, XM_005266426.1:c.999G>T, XM_005266427.1:c.999G>T, XM_005266428.1:c.999G>T, XM_005266429.1:c.999G>T, XM_005266430.1:c.999G>T, XM_005266431.1:c.963G>T, XM_005266432.1:c.999G>T, XM_005266433.1:c.999G>T, XM_005266434.1:c.-3739G>T, XR_245388.1:n.1218G>TVOUS02/20/2017
9ATP7BEx2NM_000053.3:c.1145_1151delCCCAACTPathogenic** 
10ATP7BEx2NM_000053.3:c.1216T>Gp.Ser406Ala | p.S406ANM_000053.2:c.1216T>G, NM_000053.3:c.1216T>G, NM_001005918.1:c.1216T>G, NM_001005918.2:c.1216T>G, NM_001243182.1:c.883T>G, XM_005266423.1:c.1120T>G, XM_005266424.1:c.1120T>G, XM_005266425.1:c.1216T>G, XM_005266426.1:c.1216T>G, XM_005266427.1:c.1216T>G, XM_005266428.1:c.1216T>G, XM_005266429.1:c.1216T>G, XM_005266430.1:c.1216T>G, XM_005266431.1:c.1180T>G, XM_005266432.1:c.1216T>G, XM_005266433.1:c.1216T>G, XM_005266434.1:c.-3522T>G, XR_245388.1:n.1435T>GBenign06/17/2019 
11ATP7BEx2NM_000053.3:c.1285+5G>TVOUS06/18/2019
12ATP7BEx3NM_000053.3:c.1366G>Cp.Val456Leu | p.V456LNM_000053.2:c.1366G>C, NM_000053.3:c.1366G>C, NM_001005918.1:c.1366G>C, NM_001005918.2:c.1366G>C, NM_001243182.1:c.1033G>C, XM_005266423.1:c.1270G>C, XM_005266424.1:c.1270G>C, XM_005266431.1:c.1330G>C, XM_005266434.1:c.-187G>CBenign04/27/2016 
13ATP7BEx3NM_000053.3:c.1426G>Ap.Ala476Thr | p.A476TNM_000053.2:c.1426G>A, NM_000053.3:c.1426G>A, NM_001005918.1:c.1426G>A, NM_001005918.2:c.1426G>A, NM_001243182.1:c.1093G>A, XM_005266423.1:c.1330G>A, XM_005266424.1:c.1330G>A, XM_005266425.1:c.1426G>A, XM_005266426.1:c.1426G>A, XM_005266427.1:c.1426G>A, XM_005266428.1:c.1426G>A, XM_005266429.1:c.1426G>A, XM_005266430.1:c.1426G>A, XM_005266431.1:c.1390G>A, XM_005266432.1:c.1426G>A, XM_005266433.1:c.1285+3326G>A, XM_005266434.1:c.-127G>A, XR_245388.1:n.1645G>ALikely benign11/16/2015 
14ATP7BEx4NM_000053.3:c.1605_1609dupGGTCANM_000053.2:c.1609_1610insGGTCA, NM_000053.3:c.1609_1610insGGTCA, NM_001005918.1:c.1609_1610insGGTCA, NM_001005918.2:c.1609_1610insGGTCA, NM_001243182.1:c.1276_1277insGGTCA, XM_005266423.1:c.1513_1514insGGTCA, XM_005266424.1:c.1513_1514insGGTCA, XM_005266425.1:c.1609_1610insGGTCA, XM_005266426.1:c.1609_1610insGGTCA, XM_005266427.1:c.1609_1610insGGTCA, XM_005266428.1:c.1609_1610insGGTCA, XM_005266429.1:c.1609_1610insGGTCA, XM_005266430.1:c.1609_1610insGGTCA, XM_005266431.1:c.1573_1574insGGTCA, XM_005266432.1:c.1609_1610insGGTCA, XM_005266433.1:c.1285+5393_1285+5394insGGTCA, XM_005266434.1:c.-10+1950_-10+1951insGGTCA, XR_245388.1:n.1828_1829insGGTCAPathogenic02/10/2016 
15ATP7BEx4NM_000053.3:c.1607T>Cp.Val536Ala | p.V536ANM_000053.2:c.1607T>C, NM_000053.3:c.1607T>C, NM_001005918.1:c.1607T>C, NM_001005918.2:c.1607T>C, NM_001243182.1:c.1274T>C, XM_005266423.1:c.1511T>C, XM_005266424.1:c.1511T>C, XM_005266425.1:c.1607T>C, XM_005266426.1:c.1607T>C, XM_005266427.1:c.1607T>C, XM_005266428.1:c.1607T>C, XM_005266429.1:c.1607T>C, XM_005266430.1:c.1607T>C, XM_005266431.1:c.1571T>C, XM_005266432.1:c.1607T>C, XM_005266433.1:c.1285+5391T>C, XM_005266434.1:c.-10+1948T>C, XR_245388.1:n.1826T>CBenign05/02/2016 
16ATP7BEx4NM_000053.3:c.1620C>Tp.Leu540= | p.L540=NM_000053.2:c.1620C>T, NM_000053.3:c.1620C>T, NM_001005918.1:c.1620C>T, NM_001005918.2:c.1620C>T, NM_001243182.1:c.1287C>T, XM_005266423.1:c.1524C>T, XM_005266424.1:c.1524C>T, XM_005266425.1:c.1620C>T, XM_005266426.1:c.1620C>T, XM_005266427.1:c.1620C>T, XM_005266428.1:c.1620C>T, XM_005266429.1:c.1620C>T, XM_005266430.1:c.1620C>T, XM_005266431.1:c.1584C>T, XM_005266432.1:c.1620C>T, XM_005266433.1:c.1285+5404C>T, XM_005266434.1:c.-10+1961C>T, XR_245388.1:n.1839C>TVOUS09/17/2019
17ATP7BEx4NM_000053.3:c.1621G>Ap.Glu541Lys | p.E541KNM_000053.2:c.1621G>A, NM_000053.3:c.1621G>A, NM_001005918.1:c.1621G>A, NM_001005918.2:c.1621G>A, NM_001243182.1:c.1288G>A, XM_005266423.1:c.1525G>A, XM_005266424.1:c.1525G>A, XM_005266425.1:c.1621G>A, XM_005266426.1:c.1621G>A, XM_005266427.1:c.1621G>A, XM_005266428.1:c.1621G>A, XM_005266429.1:c.1621G>A, XM_005266430.1:c.1621G>A, XM_005266431.1:c.1585G>A, XM_005266432.1:c.1621G>A, XM_005266433.1:c.1285+5405G>A, XM_005266434.1:c.-10+1962G>A, XR_245388.1:n.1840G>AVOUS01/28/2013
18ATP7BEx4NM_000053.3:c.1707+9T>CBenign** 
19ATP7BEx5NM_000053.3:c.1728G>Ap.Ala576= | p.A576=NM_000053.2:c.1728G>A, NM_000053.3:c.1728G>A, NM_001005918.1:c.1728G>A, NM_001005918.2:c.1728G>A, NM_001243182.1:c.1395G>A, XM_005266423.1:c.1632G>A, XM_005266424.1:c.1632G>A, XM_005266425.1:c.1728G>A, XM_005266426.1:c.1728G>A, XM_005266427.1:c.1728G>A, XM_005266428.1:c.1728G>A, XM_005266429.1:c.1728G>A, XM_005266430.1:c.1728G>A, XM_005266431.1:c.1692G>A, XM_005266432.1:c.1728G>A, XM_005266433.1:c.1285+8922G>A, XM_005266434.1:c.12G>A, XR_245388.1:n.1947G>ABenign02/04/2019 
20ATP7BEx5NM_000053.3:c.1745_1746delTANM_000053.2:c.1745_1746delTA, NM_000053.3:c.1745_1746delTA, NM_001005918.1:c.1745_1746delTA, NM_001005918.2:c.1745_1746delTA, NM_001243182.1:c.1412_1413delTA, XM_005266423.1:c.1649_1650delTA, XM_005266424.1:c.1649_1650delTA, XM_005266425.1:c.1745_1746delTA, XM_005266426.1:c.1745_1746delTA, XM_005266427.1:c.1745_1746delTA, XM_005266428.1:c.1745_1746delTA, XM_005266429.1:c.1745_1746delTA, XM_005266430.1:c.1745_1746delTA, XM_005266431.1:c.1709_1710delTA, XM_005266432.1:c.1745_1746delTA, XM_005266433.1:c.1285+8939_1285+8940delTA, XM_005266434.1:c.29_30delTA, XR_245388.1:n.1964_1965delTAPathogenic04/28/2016 
21ATP7BEx5NM_000053.3:c.1840G>Tp.Gly614Cys | p.G614CNM_000053.2:c.1840G>T, NM_000053.3:c.1840G>T, NM_001005918.1:c.1840G>T, NM_001005918.2:c.1840G>T, NM_001243182.1:c.1507G>T, XM_005266423.1:c.1744G>T, XM_005266424.1:c.1744G>T, XM_005266425.1:c.1840G>T, XM_005266426.1:c.1840G>T, XM_005266427.1:c.1840G>T, XM_005266428.1:c.1840G>T, XM_005266429.1:c.1840G>T, XM_005266430.1:c.1840G>T, XM_005266431.1:c.1804G>T, XM_005266432.1:c.1840G>T, XM_005266433.1:c.1285+9034G>T, XM_005266434.1:c.124G>T, XR_245388.1:n.2059G>TVOUS08/18/2014
22ATP7BEx5NM_000053.3:c.1869+18_1869+48delinsAAATTGTAGTAGTCACCTTTTTAAAAACAGTAATVOUS**
23ATP7BEx6NM_000053.3:c.1915C>Tp.His639Tyr | p.H639YNM_000053.2:c.1915C>T, NM_000053.3:c.1915C>T, NM_001005918.1:c.1869+3004C>T, NM_001005918.2:c.1869+3004C>T, NM_001243182.1:c.1582C>T, XM_005266423.1:c.1819C>T, XM_005266424.1:c.1819C>T, XM_005266425.1:c.1915C>T, XM_005266426.1:c.1915C>T, XM_005266427.1:c.1915C>T, XM_005266428.1:c.1869+3004C>T, XM_005266429.1:c.1915C>T, XM_005266430.1:c.1915C>T, XM_005266431.1:c.1879C>T, XM_005266432.1:c.1869+3004C>T, XM_005266433.1:c.1286-11707C>T, XM_005266434.1:c.199C>T, XR_245388.1:n.2134C>TVOUS03/09/2017
24ATP7BEx7NM_000053.3:c.1995G>Ap.Met665Ile | p.M665INM_000053.2:c.1995G>A, NM_000053.3:c.1995G>A, NM_001005918.1:c.1870-2667G>A, NM_001005918.2:c.1870-2667G>A, NM_001243182.1:c.1662G>A, XM_005266423.1:c.1899G>A, XM_005266424.1:c.1899G>A, XM_005266425.1:c.1995G>A, XM_005266426.1:c.1995G>A, XM_005266427.1:c.1995G>A, XM_005266428.1:c.1870-1730G>A, XM_005266429.1:c.1995G>A, XM_005266430.1:c.1995G>A, XM_005266431.1:c.1959G>A, XM_005266432.1:c.1870-2667G>A, XM_005266433.1:c.1286-10113G>A, XM_005266434.1:c.279G>A, XR_245388.1:n.2214G>AVOUS09/20/2019
25ATP7BEx7NM_000053.3:c.2009_2015delATATGCTPathogenic** 
26ATP7BEx8NM_000053.3:c.2123T>Cp.Leu708Pro | p.L708PNM_000053.2:c.2123T>C, NM_000053.3:c.2123T>C, NM_001005918.1:c.1870-936T>C, NM_001005918.2:c.1870-936T>C, NM_001243182.1:c.1790T>C, XM_005266423.1:c.2027T>C, XM_005266424.1:c.2027T>C, XM_005266425.1:c.2122-143T>C, XM_005266426.1:c.2123T>C, XM_005266427.1:c.2122-936T>C, XM_005266428.1:c.1871T>C, XM_005266429.1:c.2123T>C, XM_005266430.1:c.2123T>C, XM_005266431.1:c.2087T>C, XM_005266432.1:c.1870-936T>C, XM_005266433.1:c.1286-8382T>C, XM_005266434.1:c.407T>C, XR_245388.1:n.2342T>CPathogenic11/11/2016 
27ATP7BEx8NM_000053.3:c.2128G>Ap.Gly710Ser | p.G710SNM_000053.2:c.2128G>A, NM_000053.3:c.2128G>A, NM_001005918.1:c.1870-931G>A, NM_001005918.2:c.1870-931G>A, NM_001243182.1:c.1795G>A, XM_005266423.1:c.2032G>A, XM_005266424.1:c.2032G>A, XM_005266425.1:c.2122-138G>A, XM_005266426.1:c.2128G>A, XM_005266427.1:c.2122-931G>A, XM_005266428.1:c.1876G>A, XM_005266429.1:c.2128G>A, XM_005266430.1:c.2128G>A, XM_005266431.1:c.2092G>A, XM_005266432.1:c.1870-931G>A, XM_005266433.1:c.1286-8377G>A, XM_005266434.1:c.412G>A, XR_245388.1:n.2347G>APathogenic10/26/2016 
28ATP7BEx8NM_000053.3:c.2175G>Ap.Arg725= | p.R725=NM_000053.2:c.2175G>A, NM_000053.3:c.2175G>A, NM_001005918.1:c.1870-884G>A, NM_001005918.2:c.1870-884G>A, NM_001243182.1:c.1842G>A, XM_005266423.1:c.2079G>A, XM_005266424.1:c.2079G>A, XM_005266425.1:c.2122-91G>A, XM_005266426.1:c.2175G>A, XM_005266427.1:c.2122-884G>A, XM_005266428.1:c.1923G>A, XM_005266429.1:c.2175G>A, XM_005266430.1:c.2175G>A, XM_005266431.1:c.2139G>A, XM_005266432.1:c.1870-884G>A, XM_005266433.1:c.1286-8330G>A, XM_005266434.1:c.459G>A, XR_245388.1:n.2394G>ALikely benign09/13/2016 
29ATP7BEx8NM_000053.3:c.2191G>Ap.Val731Met | p.V731MNM_000053.2:c.2191G>A, NM_000053.3:c.2191G>A, NM_001005918.1:c.1870-868G>A, NM_001005918.2:c.1870-868G>A, NM_001243182.1:c.1858G>A, XM_005266423.1:c.2095G>A, XM_005266424.1:c.2095G>A, XM_005266425.1:c.2122-75G>A, XM_005266426.1:c.2191G>A, XM_005266427.1:c.2122-868G>A, XM_005266428.1:c.1939G>A, XM_005266429.1:c.2191G>A, XM_005266430.1:c.2191G>A, XM_005266431.1:c.2155G>A, XM_005266432.1:c.1870-868G>A, XM_005266433.1:c.1286-8314G>A, XM_005266434.1:c.475G>A, XR_245388.1:n.2410G>AVOUS06/22/2016
30ATP7BEx8NM_000053.3:c.2305A>Gp.Met769Val | p.M769VNM_000053.2:c.2305A>G, NM_000053.3:c.2305A>G, NM_001005918.1:c.1870-754A>G, NM_001005918.2:c.1870-754A>G, NM_001243182.1:c.1972A>G, XM_005266423.1:c.2209A>G, XM_005266424.1:c.2209A>G, XM_005266425.1:c.2161A>G, XM_005266426.1:c.2305A>G, XM_005266427.1:c.2122-754A>G, XM_005266428.1:c.2053A>G, XM_005266429.1:c.2305A>G, XM_005266430.1:c.2305A>G, XM_005266431.1:c.2269A>G, XM_005266432.1:c.1870-754A>G, XM_005266433.1:c.1286-8200A>G, XM_005266434.1:c.589A>G, XR_245388.1:n.2524A>GPathogenic09/11/2019 
31ATP7BEx8NM_000053.3:c.2310C>Gp.Leu770= | p.L770=NM_000053.2:c.2310C>G, NM_000053.3:c.2310C>G, NM_001005918.1:c.1870-749C>G, NM_001005918.2:c.1870-749C>G, NM_001243182.1:c.1977C>G, XM_005266423.1:c.2214C>G, XM_005266424.1:c.2214C>G, XM_005266425.1:c.2166C>G, XM_005266426.1:c.2310C>G, XM_005266427.1:c.2122-749C>G, XM_005266428.1:c.2058C>G, XM_005266429.1:c.2310C>G, XM_005266430.1:c.2310C>G, XM_005266431.1:c.2274C>G, XM_005266432.1:c.1870-749C>G, XM_005266433.1:c.1286-8195C>G, XM_005266434.1:c.594C>G, XR_245388.1:n.2529C>GBenign12/17/2012 
32ATP7BEx8NM_000053.3:c.2333G>Tp.Arg778Leu | p.R778LNM_000053.2:c.2333G>T, NM_000053.3:c.2333G>T, NM_001005918.1:c.1870-726G>T, NM_001005918.2:c.1870-726G>T, NM_001243182.1:c.2000G>T, XM_005266423.1:c.2237G>T, XM_005266424.1:c.2237G>T, XM_005266425.1:c.2189G>T, XM_005266426.1:c.2333G>T, XM_005266427.1:c.2122-726G>T, XM_005266428.1:c.2081G>T, XM_005266429.1:c.2333G>T, XM_005266430.1:c.2333G>T, XM_005266431.1:c.2297G>T, XM_005266432.1:c.1870-726G>T, XM_005266433.1:c.1286-8172G>T, XM_005266434.1:c.617G>T, XR_245388.1:n.2552G>TPathogenic** 
33ATP7BEx8NM_000053.3:c.2336G>Ap.Trp779* | p.W779XNM_000053.2:c.2336G>A, NM_000053.3:c.2336G>A, NM_001005918.1:c.1870-723G>A, NM_001005918.2:c.1870-723G>A, NM_001243182.1:c.2003G>A, XM_005266423.1:c.2240G>A, XM_005266424.1:c.2240G>A, XM_005266425.1:c.2192G>A, XM_005266426.1:c.2336G>A, XM_005266427.1:c.2122-723G>A, XM_005266428.1:c.2084G>A, XM_005266429.1:c.2336G>A, XM_005266430.1:c.2336G>A, XM_005266431.1:c.2300G>A, XM_005266432.1:c.1870-723G>A, XM_005266433.1:c.1286-8169G>A, XM_005266434.1:c.620G>A, XR_245388.1:n.2555G>APathogenic06/03/2014 
34ATP7BEx10NM_000053.3:c.2448-25G>ANM_000053.2:c.2448-25G>A, NM_000053.3:c.2448-25G>A, NM_001005918.1:c.1962-25G>A, NM_001005918.2:c.1962-25G>A, NM_001243182.1:c.2115-25G>A, XM_005266423.1:c.2352-25G>A, XM_005266424.1:c.2352-25G>A, XM_005266425.1:c.2304-25G>A, XM_005266426.1:c.2448-25G>A, XM_005266427.1:c.2214-25G>A, XM_005266428.1:c.2196-25G>A, XM_005266429.1:c.2448-25G>A, XM_005266430.1:c.2448-25G>A, XM_005266431.1:c.2412-25G>A, XM_005266432.1:c.1962-25G>A, XM_005266433.1:c.1286-263G>A, XM_005266434.1:c.732-25G>A, XR_245388.1:n.2667-25G>ABenign** 
35ATP7BEx10NM_000053.3:c.2479C>Tp.Arg827Trp | p.R827WNM_000053.2:c.2479C>T, NM_000053.3:c.2479C>T, NM_001005918.1:c.1993C>T, NM_001005918.2:c.1993C>T, NM_001243182.1:c.2146C>T, XM_005266423.1:c.2383C>T, XM_005266424.1:c.2383C>T, XM_005266425.1:c.2335C>T, XM_005266426.1:c.2479C>T, XM_005266427.1:c.2245C>T, XM_005266428.1:c.2227C>T, XM_005266429.1:c.2479C>T, XM_005266430.1:c.2479C>T, XM_005266431.1:c.2443C>T, XM_005266432.1:c.1993C>T, XM_005266433.1:c.1286-207C>T, XM_005266434.1:c.763C>T, XR_245388.1:n.2698C>TVOUS02/16/2016
36ATP7BEx10NM_000053.3:c.2484C>Tp.Gly828= | p.G828=NM_000053.2:c.2484C>T, NM_000053.3:c.2484C>T, NM_001005918.1:c.1998C>T, NM_001005918.2:c.1998C>T, NM_001243182.1:c.2151C>T, XM_005266423.1:c.2388C>T, XM_005266424.1:c.2388C>T, XM_005266425.1:c.2340C>T, XM_005266426.1:c.2484C>T, XM_005266427.1:c.2250C>T, XM_005266428.1:c.2232C>T, XM_005266429.1:c.2484C>T, XM_005266430.1:c.2484C>T, XM_005266431.1:c.2448C>T, XM_005266432.1:c.1998C>T, XM_005266433.1:c.1286-202C>T, XM_005266434.1:c.768C>T, XR_245388.1:n.2703C>TLikely benign10/26/2016 
37ATP7BEx10NM_000053.3:c.2495A>Gp.Lys832Arg | p.K832RNM_000053.2:c.2495A>G, NM_000053.3:c.2495A>G, NM_001005918.1:c.2009A>G, NM_001005918.2:c.2009A>G, NM_001243182.1:c.2162A>G, XM_005266423.1:c.2399A>G, XM_005266424.1:c.2399A>G, XM_005266431.1:c.2459A>G, XM_005266434.1:c.779A>GBenign04/27/2016 
38ATP7BEx10NM_000053.3:c.2532delAp.Val845Serfs*28 | p.V845SfsX28NM_000053.2:c.2532delA, NM_000053.3:c.2532delA, NM_001005918.1:c.2046delA, NM_001005918.2:c.2046delA, NM_001243182.1:c.2199delA, XM_005266423.1:c.2436delA, XM_005266424.1:c.2436delA, XM_005266425.1:c.2388delA, XM_005266426.1:c.2532delA, XM_005266427.1:c.2298delA, XM_005266428.1:c.2280delA, XM_005266429.1:c.2532delA, XM_005266430.1:c.2532delA, XM_005266431.1:c.2496delA, XM_005266432.1:c.2046delA, XM_005266433.1:c.1286-154delA, XM_005266434.1:c.816delA, XR_245388.1:n.2751delAPathogenic07/07/2014 
39ATP7BEx11NM_000053.3:c.2605G>Ap.Gly869Arg | p.G869RNM_000053.2:c.2605G>A, NM_000053.3:c.2605G>A, NM_001005918.1:c.2119G>A, NM_001005918.2:c.2119G>A, NM_001243182.1:c.2272G>A, XM_005266423.1:c.2509G>A, XM_005266424.1:c.2509G>A, XM_005266425.1:c.2461G>A, XM_005266426.1:c.2605G>A, XM_005266427.1:c.2371G>A, XM_005266428.1:c.2353G>A, XM_005266429.1:c.2605G>A, XM_005266430.1:c.2605G>A, XM_005266431.1:c.2569G>A, XM_005266432.1:c.2119G>A, XM_005266433.1:c.1315G>A, XM_005266434.1:c.889G>A, XR_245388.1:n.2824G>APathogenic05/09/2019 
40ATP7BEx11NM_000053.3:c.2730G>Ap.Lys910= | p.K910=NM_000053.2:c.2730G>A, NM_000053.3:c.2730G>A, NM_001005918.1:c.2244G>A, NM_001005918.2:c.2244G>A, NM_001243182.1:c.2397G>A, XM_005266423.1:c.2634G>A, XM_005266424.1:c.2634G>A, XM_005266425.1:c.2586G>A, XM_005266426.1:c.2730G>A, XM_005266427.1:c.2496G>A, XM_005266428.1:c.2478G>A, XM_005266429.1:c.2730G>A, XM_005266430.1:c.2730G>A, XM_005266431.1:c.2694G>A, XM_005266432.1:c.2244G>A, XM_005266433.1:c.1440G>A, XM_005266434.1:c.1014G>A, XR_245388.1:n.2949G>AVOUS06/10/2019
41ATP7BEx12NM_000053.3:c.2762G>Ap.Ser921Asn | p.S921NPathogenic** 
42ATP7BEx12NM_000053.3:c.2785A>Gp.Ile929Val | p.I929VNM_000053.2:c.2785A>G, NM_000053.3:c.2785A>G, NM_001005918.1:c.2244+265A>G, NM_001005918.2:c.2244+265A>G, NM_001243182.1:c.2452A>G, XM_005266423.1:c.2689A>G, XM_005266424.1:c.2689A>G, XM_005266425.1:c.2641A>G, XM_005266426.1:c.2785A>G, XM_005266427.1:c.2551A>G, XM_005266428.1:c.2533A>G, XM_005266429.1:c.2730+265A>G, XM_005266430.1:c.2785A>G, XM_005266431.1:c.2749A>G, XM_005266432.1:c.2299A>G, XM_005266433.1:c.1495A>G, XM_005266434.1:c.1069A>G, XR_245388.1:n.3004A>GBenign02/23/2015 
43ATP7BEx12NM_000053.3:c.2806T>Gp.Leu936Val | p.L936VNM_000053.2:c.2806T>G, NM_000053.3:c.2806T>G, NM_001005918.1:c.2244+286T>G, NM_001005918.2:c.2244+286T>G, NM_001243182.1:c.2473T>G, XM_005266423.1:c.2710T>G, XM_005266424.1:c.2710T>G, XM_005266425.1:c.2662T>G, XM_005266426.1:c.2806T>G, XM_005266427.1:c.2572T>G, XM_005266428.1:c.2554T>G, XM_005266429.1:c.2730+286T>G, XM_005266430.1:c.2806T>G, XM_005266431.1:c.2770T>G, XM_005266432.1:c.2320T>G, XM_005266433.1:c.1516T>G, XM_005266434.1:c.1090T>G, XR_245388.1:n.3025T>GVOUS09/28/2015
44ATP7BEx12NM_000053.3:c.2855G>Ap.Arg952Lys | p.R952KNM_000053.2:c.2855G>A, NM_000053.3:c.2855G>A, NM_001005918.1:c.2244+335G>A, NM_001005918.2:c.2244+335G>A, NM_001243182.1:c.2522G>A, XM_005266423.1:c.2759G>A, XM_005266424.1:c.2759G>A, XM_005266431.1:c.2819G>A, XM_005266434.1:c.1139G>ABenign04/27/2016 
45ATP7BEx13NM_000053.3:c.2866-13G>CNM_000053.2:c.2866-13G>C, NM_000053.3:c.2866-13G>C, NM_001005918.1:c.2245-13G>C, NM_001005918.2:c.2245-13G>C, NM_001243182.1:c.2533-13G>CBenign07/11/2014 
46ATP7BEx13NM_000053.3:c.2921C>Tp.Thr974Met | p.T974MNM_000053.2:c.2921C>T, NM_000053.3:c.2921C>T, NM_001005918.1:c.2300C>T, NM_001005918.2:c.2300C>T, NM_001243182.1:c.2588C>T, XM_005266423.1:c.2825C>T, XM_005266424.1:c.2825C>T, XM_005266425.1:c.2777C>T, XM_005266426.1:c.2866-2132C>T, XM_005266427.1:c.2687C>T, XM_005266428.1:c.2669C>T, XM_005266429.1:c.2731-2132C>T, XM_005266430.1:c.2921C>T, XM_005266431.1:c.2885C>T, XM_005266432.1:c.2435C>T, XM_005266433.1:c.1631C>T, XM_005266434.1:c.1205C>T, XR_245388.1:n.3140C>TVOUS07/22/2016
47ATP7BEx13NM_000053.3:c.2930C>Tp.Thr977Met | p.T977MNM_000053.2:c.2930C>T, NM_000053.3:c.2930C>T, NM_001005918.1:c.2309C>T, NM_001005918.2:c.2309C>T, NM_001243182.1:c.2597C>T, XM_005266423.1:c.2834C>T, XM_005266424.1:c.2834C>T, XM_005266425.1:c.2786C>T, XM_005266426.1:c.2866-2123C>T, XM_005266427.1:c.2696C>T, XM_005266428.1:c.2678C>T, XM_005266429.1:c.2731-2123C>T, XM_005266430.1:c.2930C>T, XM_005266431.1:c.2894C>T, XM_005266432.1:c.2444C>T, XM_005266433.1:c.1640C>T, XM_005266434.1:c.1214C>T, XR_245388.1:n.3149C>TPathogenic09/11/2019 
48ATP7BEx13NM_000053.3:c.2953T>Cp.Cys985Arg | p.C985RNM_000053.2:c.2953T>C, NM_000053.3:c.2953T>C, NM_001005918.1:c.2332T>C, NM_001005918.2:c.2332T>C, NM_001243182.1:c.2620T>C, XM_005266423.1:c.2857T>C, XM_005266424.1:c.2857T>C, XM_005266425.1:c.2809T>C, XM_005266426.1:c.2866-2100T>C, XM_005266427.1:c.2719T>C, XM_005266428.1:c.2701T>C, XM_005266429.1:c.2731-2100T>C, XM_005266430.1:c.2953T>C, XM_005266431.1:c.2917T>C, XM_005266432.1:c.2467T>C, XM_005266433.1:c.1663T>C, XM_005266434.1:c.1237T>C, XR_245388.1:n.3172T>CLikely pathogenic10/04/2016 
49ATP7BEx13NM_000053.3:c.2955C>Tp.Cys985= | p.C985=NM_000053.2:c.2955C>T, NM_000053.3:c.2955C>T, NM_001005918.1:c.2334C>T, NM_001005918.2:c.2334C>T, NM_001243182.1:c.2622C>T, XM_005266423.1:c.2859C>T, XM_005266424.1:c.2859C>T, XM_005266425.1:c.2811C>T, XM_005266426.1:c.2866-2098C>T, XM_005266427.1:c.2721C>T, XM_005266428.1:c.2703C>T, XM_005266429.1:c.2731-2098C>T, XM_005266430.1:c.2955C>T, XM_005266431.1:c.2919C>T, XM_005266432.1:c.2469C>T, XM_005266433.1:c.1665C>T, XM_005266434.1:c.1239C>T, XR_245388.1:n.3174C>TVOUS02/16/2016
50ATP7BEx13NM_000053.3:c.2972C>Tp.Thr991Met | p.T991MNM_000053.2:c.2972C>T, NM_000053.3:c.2972C>T, NM_001005918.1:c.2351C>T, NM_001005918.2:c.2351C>T, NM_001243182.1:c.2639C>T, XM_005266423.1:c.2876C>T, XM_005266424.1:c.2876C>T, XM_005266425.1:c.2828C>T, XM_005266426.1:c.2866-2081C>T, XM_005266427.1:c.2738C>T, XM_005266428.1:c.2720C>T, XM_005266429.1:c.2731-2081C>T, XM_005266430.1:c.2972C>T, XM_005266431.1:c.2936C>T, XM_005266432.1:c.2486C>T, XM_005266433.1:c.1682C>T, XM_005266434.1:c.1256C>T, XR_245388.1:n.3191C>TVOUS12/06/2018
51ATP7BEx13NM_000053.3:c.2973G>Ap.Thr991= | p.T991=NM_000053.2:c.2973G>A, NM_000053.3:c.2973G>A, NM_001005918.1:c.2352G>A, NM_001005918.2:c.2352G>A, NM_001243182.1:c.2640G>A, XM_005266423.1:c.2877G>A, XM_005266424.1:c.2877G>A, XM_005266431.1:c.2937G>A, XM_005266434.1:c.1257G>ABenign01/28/2013 
52ATP7BEx13NM_000053.3:c.2976C>Ap.Pro992= | p.P992=NM_000053.2:c.2976C>A, NM_000053.3:c.2976C>A, NM_001005918.1:c.2355C>A, NM_001005918.2:c.2355C>A, NM_001243182.1:c.2643C>A, XM_005266423.1:c.2880C>A, XM_005266424.1:c.2880C>A, XM_005266425.1:c.2832C>A, XM_005266426.1:c.2866-2077C>A, XM_005266427.1:c.2742C>A, XM_005266428.1:c.2724C>A, XM_005266429.1:c.2731-2077C>A, XM_005266430.1:c.2976C>A, XM_005266431.1:c.2940C>A, XM_005266432.1:c.2490C>A, XM_005266433.1:c.1686C>A, XM_005266434.1:c.1260C>A, XR_245388.1:n.3195C>AVOUS06/20/2017
53ATP7BEx13NM_000053.3:c.3009G>Ap.Ala1003= | p.A1003=NM_000053.2:c.3009G>A, NM_000053.3:c.3009G>A, NM_001005918.1:c.2388G>A, NM_001005918.2:c.2388G>A, NM_001243182.1:c.2676G>ABenign08/26/2013 
54ATP7BEx13NM_000053.3:c.3060+16G>TNM_000053.2:c.3060+16G>T, NM_000053.3:c.3060+16G>T, NM_001005918.1:c.2439+16G>T, NM_001005918.2:c.2439+16G>T, NM_001243182.1:c.2727+16G>T, XM_005266423.1:c.2964+16G>T, XM_005266424.1:c.2964+16G>T, XM_005266425.1:c.2916+16G>T, XM_005266426.1:c.2866-1977G>T, XM_005266427.1:c.2826+16G>T, XM_005266428.1:c.2808+16G>T, XM_005266429.1:c.2731-1977G>T, XM_005266430.1:c.3060+16G>T, XM_005266431.1:c.3024+16G>T, XM_005266432.1:c.2574+16G>T, XM_005266433.1:c.1770+16G>T, XM_005266434.1:c.1344+16G>T, XR_245388.1:n.3279+16G>TBenign07/11/2014 
55ATP7BEx14NM_000053.3:c.3107dupTNM_000053.2:c.3107_3108insT, NM_000053.3:c.3107_3108insT, NM_001005918.1:c.2486_2487insT, NM_001005918.2:c.2486_2487insT, NM_001243182.1:c.2774_2775insT, XM_005266423.1:c.3011_3012insT, XM_005266424.1:c.3011_3012insT, XM_005266425.1:c.2963_2964insT, XM_005266426.1:c.2912_2913insT, XM_005266427.1:c.2873_2874insT, XM_005266428.1:c.2855_2856insT, XM_005266429.1:c.2777_2778insT, XM_005266430.1:c.3107_3108insT, XM_005266431.1:c.3071_3072insT, XM_005266432.1:c.2621_2622insT, XM_005266433.1:c.1817_1818insT, XM_005266434.1:c.1391_1392insT, XR_245388.1:n.3326_3327insTPathogenic03/01/2016 
56ATP7BEx14NM_000053.3:c.3128T>Cp.Leu1043Pro | p.L1043PNM_000053.2:c.3128T>C, NM_000053.3:c.3128T>C, NM_001005918.1:c.2507T>C, NM_001005918.2:c.2507T>C, NM_001243182.1:c.2795T>C, XM_005266423.1:c.3032T>C, XM_005266424.1:c.3032T>C, XM_005266425.1:c.2984T>C, XM_005266426.1:c.2933T>C, XM_005266427.1:c.2894T>C, XM_005266428.1:c.2876T>C, XM_005266429.1:c.2798T>C, XM_005266430.1:c.3128T>C, XM_005266431.1:c.3092T>C, XM_005266432.1:c.2642T>C, XM_005266433.1:c.1838T>C, XM_005266434.1:c.1412T>C, XR_245388.1:n.3347T>CLikely pathogenic12/10/2018 
57ATP7BEx14NM_000053.3:c.3207C>Ap.His1069Gln | p.H1069QNM_000053.2:c.3207C>A, NM_000053.3:c.3207C>A, NM_001005918.1:c.2586C>A, NM_001005918.2:c.2586C>A, NM_001243182.1:c.2874C>A, XM_005266423.1:c.3111C>A, XM_005266424.1:c.3111C>A, XM_005266425.1:c.3063C>A, XM_005266426.1:c.3012C>A, XM_005266427.1:c.2973C>A, XM_005266428.1:c.2955C>A, XM_005266429.1:c.2877C>A, XM_005266430.1:c.3207C>A, XM_005266431.1:c.3171C>A, XM_005266432.1:c.2721C>A, XM_005266433.1:c.1917C>A, XM_005266434.1:c.1491C>A, XR_245388.1:n.3426C>APathogenic06/18/2019 
58ATP7BEx15NM_000053.3:c.3247C>Tp.Leu1083Phe | p.L1083FPathogenic** 
59ATP7BEx15NM_000053.3:c.3366A>Gp.Ala1122= | p.A1122=Benign** 
60ATP7BEx15NM_000053.3:c.3369G>Ap.Pro1123= | p.P1123=NM_000053.2:c.3369G>A, NM_000053.3:c.3369G>A, NM_001005918.1:c.2748G>A, NM_001005918.2:c.2748G>A, NM_001243182.1:c.3036G>ABenign02/26/2013 
61ATP7BEx15NM_000053.3:c.3405A>Gp.Ala1135= | p.A1135=NM_000053.2:c.3405A>G, NM_000053.3:c.3405A>G, NM_001005918.1:c.2784A>G, NM_001005918.2:c.2784A>G, NM_001243182.1:c.3072A>G, XM_005266423.1:c.3309A>G, XM_005266424.1:c.3309A>G, XM_005266425.1:c.3261A>G, XM_005266426.1:c.3210A>G, XM_005266427.1:c.3171A>G, XM_005266428.1:c.3153A>G, XM_005266429.1:c.3075A>G, XM_005266430.1:c.3405A>G, XM_005266431.1:c.3369A>G, XM_005266432.1:c.2919A>G, XM_005266433.1:c.2115A>G, XM_005266434.1:c.1689A>G, XR_245388.1:n.3624A>GVOUS01/24/2017
62ATP7BEx16NM_000053.3:c.[3426G>C;3443T>C], p.[Q1142H;I1148T]Pathogenic06/22/2017 
63ATP7BEx16NM_000053.3:c.3419T>Cp.Val1140Ala | p.V1140ANM_000053.2:c.3419T>C, NM_000053.3:c.3419T>C, NM_001005918.1:c.2798T>C, NM_001005918.2:c.2798T>C, NM_001243182.1:c.3086T>C, XM_005266423.1:c.3323T>C, XM_005266424.1:c.3323T>C, XM_005266431.1:c.3383T>C, XM_005266434.1:c.1703T>CBenign10/19/2017 
64ATP7BEx16NM_000053.3:c.3443T>Cp.Ile1148Thr | p.I1148TNM_000053.2:c.3443T>C, NM_000053.3:c.3443T>C, NM_001005918.1:c.2822T>C, NM_001005918.2:c.2822T>C, NM_001243182.1:c.3110T>C, XM_005266423.1:c.3347T>C, XM_005266424.1:c.3347T>C, XM_005266425.1:c.3299T>C, XM_005266426.1:c.3248T>C, XM_005266427.1:c.3209T>C, XM_005266428.1:c.3191T>C, XM_005266429.1:c.3113T>C, XM_005266430.1:c.3443T>C, XM_005266431.1:c.3407T>C, XM_005266432.1:c.2957T>C, XM_005266433.1:c.2153T>C, XM_005266434.1:c.1727T>C, XR_245388.1:n.3662T>CPathogenic06/20/2017 
65ATP7BEx16NM_000053.3:c.3467G>Ap.Arg1156His | p.R1156HNM_000053.2:c.3467G>A, NM_000053.3:c.3467G>A, NM_001005918.1:c.2846G>A, NM_001005918.2:c.2846G>A, NM_001243182.1:c.3134G>A, XM_005266423.1:c.3371G>A, XM_005266424.1:c.3371G>A, XM_005266425.1:c.3323G>A, XM_005266426.1:c.3272G>A, XM_005266427.1:c.3233G>A, XM_005266428.1:c.3215G>A, XM_005266429.1:c.3137G>A, XM_005266430.1:c.3467G>A, XM_005266431.1:c.3431G>A, XM_005266432.1:c.2981G>A, XM_005266433.1:c.2177G>A, XM_005266434.1:c.1751G>A, XR_245388.1:n.3686G>AVOUS09/15/2015
66ATP7BEx17NM_000053.3:c.3620A>Gp.His1207Arg | p.H1207RNM_000053.2:c.3620A>G, NM_000053.3:c.3620A>G, NM_001005918.1:c.2999A>G, NM_001005918.2:c.2999A>G, NM_001243182.1:c.3287A>G, XM_005266423.1:c.3524A>G, XM_005266424.1:c.3524A>G, XM_005266425.1:c.3476A>G, XM_005266426.1:c.3425A>G, XM_005266427.1:c.3386A>G, XM_005266428.1:c.3368A>G, XM_005266429.1:c.3290A>G, XM_005266430.1:c.3620A>G, XM_005266431.1:c.3584A>G, XM_005266432.1:c.3134A>G, XM_005266433.1:c.2330A>G, XM_005266434.1:c.1904A>G, XR_245388.1:n.3839A>GBenign02/26/2013 
67ATP7BEx17NM_000053.3:c.3646G>Ap.Val1216Met | p.V1216MNM_000053.2:c.3646G>A, NM_000053.3:c.3646G>A, NM_001005918.1:c.3025G>A, NM_001005918.2:c.3025G>A, NM_001243182.1:c.3313G>A, XM_005266423.1:c.3550G>A, XM_005266424.1:c.3550G>A, XM_005266425.1:c.3502G>A, XM_005266426.1:c.3451G>A, XM_005266427.1:c.3412G>A, XM_005266428.1:c.3394G>A, XM_005266429.1:c.3316G>A, XM_005266430.1:c.3646G>A, XM_005266431.1:c.3610G>A, XM_005266432.1:c.3160G>A, XM_005266433.1:c.2356G>A, XM_005266434.1:c.1930G>A, XR_245388.1:n.3865G>ALikely pathogenic08/28/2015 
68ATP7BEx17NM_000053.3:c.3664delGp.Asp1222Thrfs*108 | p.D1222TfsX108NM_000053.2:c.3664delG, NM_000053.3:c.3664delG, NM_001005918.1:c.3043delG, NM_001005918.2:c.3043delG, NM_001243182.1:c.3331delG, XM_005266423.1:c.3568delG, XM_005266424.1:c.3568delG, XM_005266425.1:c.3520delG, XM_005266426.1:c.3469delG, XM_005266427.1:c.3430delG, XM_005266428.1:c.3412delG, XM_005266429.1:c.3334delG, XM_005266430.1:c.3664delG, XM_005266431.1:c.3628delG, XM_005266432.1:c.3178delG, XM_005266433.1:c.2374delG, XM_005266434.1:c.1948delG, XR_245388.1:n.3883delGPathogenic08/28/2015 
69ATP7BEx17NM_000053.3:c.3694A>Cp.Thr1232Pro | p.T1232PPathogenic** 
70ATP7BEx18NM_000053.3:c.3786C>Tp.Val1262= | p.V1262=NM_000053.2:c.3786C>T, NM_000053.3:c.3786C>T, NM_001005918.1:c.3165C>T, NM_001005918.2:c.3165C>T, NM_001243182.1:c.3453C>T, XM_005266423.1:c.3690C>T, XM_005266424.1:c.3690C>T, XM_005266425.1:c.3642C>T, XM_005266426.1:c.3591C>T, XM_005266427.1:c.3552C>T, XM_005266428.1:c.3534C>T, XM_005266429.1:c.3456C>T, XM_005266430.1:c.3786C>T, XM_005266431.1:c.3750C>T, XM_005266432.1:c.3300C>T, XM_005266433.1:c.2496C>T, XM_005266434.1:c.2070C>T, XR_245388.1:n.4005C>TVOUS05/19/2016
71ATP7BEx18NM_000053.3:c.3809A>Gp.Asn1270Ser | p.N1270SNM_000053.2:c.3809A>G, NM_000053.3:c.3809A>G, NM_001005918.1:c.3188A>G, NM_001005918.2:c.3188A>G, NM_001243182.1:c.3476A>G, XM_005266423.1:c.3713A>G, XM_005266424.1:c.3713A>G, XM_005266425.1:c.3665A>G, XM_005266426.1:c.3614A>G, XM_005266427.1:c.3575A>G, XM_005266428.1:c.3557A>G, XM_005266429.1:c.3479A>G, XM_005266430.1:c.3809A>G, XM_005266431.1:c.3773A>G, XM_005266432.1:c.3323A>G, XM_005266433.1:c.2519A>G, XM_005266434.1:c.2093A>G, XR_245388.1:n.4028A>GPathogenic12/06/2018 
72ATP7BEx18NM_000053.3:c.3889G>Ap.Val1297Ile | p.V1297INM_000053.2:c.3889G>A, NM_000053.3:c.3889G>A, NM_001005918.1:c.3268G>A, NM_001005918.2:c.3268G>A, NM_001243182.1:c.3556G>ABenign11/20/2013 
73ATP7BEx18NM_000053.3:c.3903+6C>TNM_000053.2:c.3903+6C>T, NM_000053.3:c.3903+6C>T, NM_001005918.1:c.3282+6C>T, NM_001005918.2:c.3282+6C>T, NM_001243182.1:c.3570+6C>T, XM_005266423.1:c.3807+6C>T, XM_005266424.1:c.3807+6C>T, XM_005266431.1:c.3867+6C>T, XM_005266434.1:c.2187+6C>TBenign04/27/2016 
74ATP7BEx19NM_000053.3:c.3955C>Tp.Arg1319* | p.R1319XNM_000053.2:c.3955C>T, NM_000053.3:c.3955C>T, NM_001005918.1:c.3334C>T, NM_001005918.2:c.3334C>T, NM_001243182.1:c.3622C>T, XM_005266423.1:c.3859C>T, XM_005266424.1:c.3859C>T, XM_005266425.1:c.3811C>T, XM_005266426.1:c.3760C>T, XM_005266427.1:c.3721C>T, XM_005266428.1:c.3703C>T, XM_005266429.1:c.3625C>T, XM_005266430.1:c.3955C>T, XM_005266431.1:c.3919C>T, XM_005266432.1:c.3469C>T, XM_005266433.1:c.2665C>T, XM_005266434.1:c.2239C>T, XR_245388.1:n.4174C>TPathogenic** 
75ATP7BEx19NM_000053.3:c.3974delTp.Leu1325Argfs*5 | p.L1325RfsX5NM_000053.2:c.3974delT, NM_000053.3:c.3974delT, NM_001005918.1:c.3353delT, NM_001005918.2:c.3353delT, NM_001243182.1:c.3641delT, XM_005266423.1:c.3878delT, XM_005266424.1:c.3878delT, XM_005266425.1:c.3830delT, XM_005266426.1:c.3779delT, XM_005266427.1:c.3740delT, XM_005266428.1:c.3722delT, XM_005266429.1:c.3644delT, XM_005266430.1:c.3974delT, XM_005266431.1:c.3938delT, XM_005266432.1:c.3488delT, XM_005266433.1:c.2684delT, XM_005266434.1:c.2258delT, XR_245388.1:n.4193delTPathogenic01/11/2019 
76ATP7BEx19NM_000053.3:c.3990_3993delTTATPathogenic** 
77ATP7BEx19NM_000053.3:c.4021+50G>CBenign** 
78ATP7BEx20NM_000053.3:c.4051C>Tp.Gln1351* | p.Q1351XNM_000053.2:c.4051C>T, NM_000053.3:c.4051C>T, NM_001005918.1:c.3430C>T, NM_001005918.2:c.3430C>T, NM_001243182.1:c.3718C>T, XM_005266423.1:c.3955C>T, XM_005266424.1:c.3955C>T, XM_005266425.1:c.3907C>T, XM_005266426.1:c.3856C>T, XM_005266427.1:c.3817C>T, XM_005266428.1:c.3799C>T, XM_005266429.1:c.3721C>T, XM_005266430.1:c.4051C>T, XM_005266431.1:c.4015C>T, XM_005266432.1:c.3565C>T, XM_005266433.1:c.2761C>T, XM_005266434.1:c.2335C>T, XR_245388.1:n.4270C>TPathogenic10/04/2016 
79ATP7BEx20NM_000053.3:c.4058G>Ap.Trp1353* | p.W1353XNM_000053.2:c.4058G>A, NM_000053.3:c.4058G>A, NM_001005918.1:c.3437G>A, NM_001005918.2:c.3437G>A, NM_001243182.1:c.3725G>A, XM_005266423.1:c.3962G>A, XM_005266424.1:c.3962G>A, XM_005266425.1:c.3914G>A, XM_005266426.1:c.3863G>A, XM_005266427.1:c.3824G>A, XM_005266428.1:c.3806G>A, XM_005266429.1:c.3728G>A, XM_005266430.1:c.4058G>A, XM_005266431.1:c.4022G>A, XM_005266432.1:c.3572G>A, XM_005266433.1:c.2768G>A, XM_005266434.1:c.2342G>A, XR_245388.1:n.4277G>APathogenic** 
80ATP7BEx21NM_000053.3:c.*15C>TVOUS**
81ATP7BEx21NM_000053.3:c.4135C>Tp.Pro1379Ser | p.P1379SNM_000053.2:c.4135C>T, NM_000053.3:c.4135C>T, NM_001005918.1:c.3514C>T, NM_001005918.2:c.3514C>T, NM_001243182.1:c.3802C>T, XM_005266423.1:c.4039C>T, XM_005266424.1:c.4039C>T, XM_005266431.1:c.4099C>T, XM_005266434.1:c.2419C>TVOUS05/17/2017
82ATP7BEx21NM_000053.3:c.4302G>Ap.Thr1434= | p.T1434=Benign** 
83ATP7BEx21NM_000053.3:c.4311G>Ap.Lys1437= | p.K1437=NM_000053.2:c.4311G>A, NM_000053.3:c.4311G>A, NM_001005918.1:c.3690G>A, NM_001005918.2:c.3690G>A, NM_001243182.1:c.3978G>A, XM_005266423.1:c.4215G>A, XM_005266424.1:c.4215G>A, XM_005266425.1:c.4167G>A, XM_005266426.1:c.4116G>A, XM_005266427.1:c.4077G>A, XM_005266428.1:c.4059G>A, XM_005266429.1:c.3981G>A, XM_005266430.1:c.4311G>A, XM_005266431.1:c.4275G>A, XM_005266432.1:c.3825G>A, XM_005266433.1:c.3021G>A, XM_005266434.1:c.2595G>A, XR_245388.1:n.4530G>ABenign08/15/2014 

* Review is pending
** Variant has not been reviewed since the launch of this product (6/15/2012)

URL Parameter Syntax

EmVClass may be automatically searched using the argument [approved_symbol] such as in the example link for the gene CFTR: https://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR

Download

EmVClass data for all genes and variants that have been seen and analyzed by NTD Genetics may be downloaded as a CSV plain text file which is designated to be updated quarterly. Data is subject to change and format is subject to modification.

EmVClass.2021-Q4.csv

Disclaimer

The interpretation of nucleotide changes is based on our current understanding of the variant at the time it was observed in a clinical case. Interpretations may not be current. Some data may not be represented. These interpretations may change over time as more information about the genes becomes available. The data presented here are not intended for clinical use outside of the context of an official NTD Genetics clinical report and should be approached with caution. Only variants identified at NTD Genetics are listed in the EmVClass. If you intend to use NTD Genetics' classification for publication purposes please contact the laboratory for permission.