"GeneDx"[submitter] AND "ATP7B"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58255	GRCh38/hg38 13q14.3(chr13:51717666-52258617)x3	ALG11, ATP7B +35 more	Copy number gain	See cases	GUncertain significance
Select item 312374	NM_000053.4(ATP7B):c.*190C>A	ATP7B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 312375	NM_000053.4(ATP7B):c.*148C>T	ATP7B	Single nucleotide variant (3 prime UTR variant)	Wilson disease +1 more	GConflicting classifications of pathogenicity
Select item 35734	NM_000053.4(ATP7B):c.*16G>A	ATP7B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 35733	NM_000053.4(ATP7B):c.*15C>T	ATP7B	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 35732	NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +3 more	GBenign/Likely benign
Select item 35731	NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=)	ATP7B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 654242	NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=)	ATP7B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 280040	NM_000053.4(ATP7B):c.4195del (p.Gln1399fs)	ATP7B (Q1192fs +4 more)	Deletion (frameshift variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 424208	NM_000053.4(ATP7B):c.4163C>T (p.Ala1388Val)	ATP7B (A1388V +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 157957	NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)	ATP7B (P1379S +4 more)	Single nucleotide variant (missense variant)	Wilson disease +4 more	GConflicting classifications of pathogenicity
Select item 681422	NM_000053.4(ATP7B):c.4125-19T>C	ATP7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198460	NM_000053.4(ATP7B):c.4125-70A>G	ATP7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188250	NM_000053.4(ATP7B):c.4125-209C>G	ATP7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674113	NM_000053.4(ATP7B):c.4124+278T>A	ATP7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 371438	NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)	ATP7B (S1281fs +4 more)	Microsatellite (frameshift variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 3375596	NM_000053.4(ATP7B):c.4060A>T (p.Met1354Leu)	ATP7B (M1073L +28 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 35729	NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter)	ATP7B (W1353* +4 more)	Single nucleotide variant (nonsense)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 495418	NM_000053.4(ATP7B):c.4022-19C>T	ATP7B	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 680999	NM_000053.4(ATP7B):c.4022-158G>C	ATP7B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177539	NM_000053.4(ATP7B):c.4022-159G>C	ATP7B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 680486	NM_000053.4(ATP7B):c.4022-329C>T	ATP7B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216496	NM_000053.4(ATP7B):c.4021+122dup	ATP7B	Duplication (intron variant)	not provided	GLikely benign
Select item 1264543	NM_000053.4(ATP7B):c.4021+136del	ATP7B	Deletion (intron variant)	not provided	GBenign
Select item 1258980	NM_000053.4(ATP7B):c.4021+135_4021+136del	ATP7B	Deletion (intron variant)	not provided	GBenign
Select item 678341	NM_000053.4(ATP7B):c.4021+107G>A	ATP7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 254770	NM_000053.4(ATP7B):c.4021+50G>C	ATP7B	Single nucleotide variant (intron variant)	Wilson disease +2 more	GBenign
Select item 526665	NM_000053.4(ATP7B):c.4021+3A>G	ATP7B	Single nucleotide variant (intron variant)	Wilson disease +1 more	GConflicting classifications of pathogenicity
Select item 430024	NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser)	ATP7B (Y1331S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 991412	NM_000053.4(ATP7B):c.3965G>A (p.Arg1322His)	ATP7B (R1115H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 35728	NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)	ATP7B (R1319* +4 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 3373222	NM_000053.4(ATP7B):c.3916G>T (p.Asp1306Tyr)	ATP7B (D1025Y +28 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 582922	NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro)	ATP7B (L1305P +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 371387	NM_000053.4(ATP7B):c.3904-2A>G	ATP7B	Single nucleotide variant (splice acceptor variant)	Wilson disease +1 more	GPathogenic
Select item 35727	NM_000053.4(ATP7B):c.3903+6C>T	ATP7B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 157954	NM_000053.4(ATP7B):c.3891C>T (p.Val1297=)	ATP7B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 92389	NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)	ATP7B (V1297I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 161207	NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)	ATP7B (D1296N +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 312378	NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=)	ATP7B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 881762	NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)	ATP7B (G1080S +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 3859	NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)	ATP7B (N1270S +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GConflicting classifications of pathogenicity
Select item 3849	NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)	ATP7B (G1266R +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 35726	NM_000053.4(ATP7B):c.3700G>T (p.Val1234Phe)	ATP7B (V1234F +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GUncertain significance
Select item 680485	NM_000053.4(ATP7B):c.3699+299G>A	ATP7B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 312379	NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)	ATP7B (I1230V +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2136085	NM_000053.4(ATP7B):c.3671G>A (p.Arg1224Gln)	ATP7B (R1030Q +27 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GUncertain significance
Select item 632662	NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu)	ATP7B (R1224L +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1493014	NM_000053.4(ATP7B):c.3660G>A (p.Thr1220=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +1 more	GLikely benign
Select item 35725	NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met)	ATP7B (T1220M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188859	NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)	ATP7B (V1216M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1312128	NM_000053.4(ATP7B):c.3632G>A (p.Ser1211Asn)	ATP7B (S1004N +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 509558	NM_000053.4(ATP7B):c.3624G>A (p.Thr1208=)	ATP7B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 382098	NM_000053.4(ATP7B):c.3623C>T (p.Thr1208Met)	ATP7B (T1208M +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 35724	NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)	ATP7B (H1207R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 555617	NM_000053.4(ATP7B):c.3589G>A (p.Ala1197Thr)	ATP7B (A1197T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 35723	NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +1 more	GConflicting classifications of pathogenicity
Select item 444317	NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr)	ATP7B (A1195T +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GUncertain significance
Select item 1308069	NM_000053.4(ATP7B):c.3580A>G (p.Ile1194Val)	ATP7B (I1083V +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GUncertain significance
Select item 35722	NM_000053.4(ATP7B):c.3557-6C>T	ATP7B	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 439428	NM_000053.4(ATP7B):c.3557-31G>T	ATP7B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 676196	NM_000053.4(ATP7B):c.3557-95A>G	ATP7B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287277	NM_000053.4(ATP7B):c.3557-308C>T	ATP7B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190273	NM_000053.4(ATP7B):c.3557-316A>G	ATP7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194947	NM_000053.4(ATP7B):c.3556+254A>G	ATP7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669155	NM_000053.4(ATP7B):c.3556+20T>G	ATP7B	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 977075	NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr)	ATP7B (I1073T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 157952	NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)	ATP7B (A1183G +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GConflicting classifications of pathogenicity
Select item 959197	NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala)	ATP7B (T1094A +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 188839	NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)	ATP7B (R1151C +4 more)	Single nucleotide variant (missense variant)	ATP7B-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 623152	NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)	ATP7B (G1149A +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 37122	NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr)	ATP7B (I1148T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 312380	NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg)	ATP7B (P1141R +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 35720	NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)	ATP7B (V1140A +4 more)	Single nucleotide variant (missense variant)	Wilson disease +3 more	GBenign
Select item 1193468	NM_000053.4(ATP7B):c.3413-231C>T	ATP7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680483	NM_000053.4(ATP7B):c.3412+292A>G	ATP7B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1968467	NM_000053.4(ATP7B):c.3407A>G (p.Glu1136Gly)	ATP7B (E1052G +26 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GUncertain significance
Select item 386708	NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +3 more	GConflicting classifications of pathogenicity
Select item 526660	NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr)	ATP7B (A1135T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 254768	NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=)	ATP7B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 88958	NM_000053.4(ATP7B):c.3402del (p.Ala1135fs)	ATP7B (A1057fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 312381	NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)	ATP7B	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 92388	NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)	ATP7B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 810698	NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu)	ATP7B (P1012L +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GUncertain significance
Select item 254767	NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=)	ATP7B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 508939	NM_000053.4(ATP7B):c.3360G>A (p.Leu1120=)	ATP7B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2193677	NM_000053.4(ATP7B):c.3352C>T (p.Arg1118Cys)	ATP7B (R1008C +26 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GUncertain significance
Select item 3368567	NM_000053.4(ATP7B):c.3334A>G (p.Ile1112Val)	ATP7B (I1001V +26 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 157947	NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +2 more	GConflicting classifications of pathogenicity
Select item 857095	NM_000053.4(ATP7B):c.3278A>G (p.Asp1093Gly)	ATP7B (D1015G +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GUncertain significance
Select item 188886	NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)	ATP7B (L1088* +4 more)	Single nucleotide variant (nonsense)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 712932	NM_000053.4(ATP7B):c.3261C>A (p.Thr1087=)	ATP7B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1182131	NM_000053.4(ATP7B):c.3244-109C>T	ATP7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293837	NM_000053.4(ATP7B):c.3244-219A>G	ATP7B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680484	NM_000053.4(ATP7B):c.3243+290G>A	ATP7B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680935	NM_000053.4(ATP7B):c.3243+183_3243+184insGCC	ATP7B	Insertion (intron variant)	not provided	GBenign
Select item 1263730	NM_000053.4(ATP7B):c.3243+179A>C	ATP7B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680934	NM_000053.4(ATP7B):c.3243+173_3243+175del	ATP7B	Deletion (intron variant)	not provided	GBenign
Select item 1187928	NM_000053.4(ATP7B):c.3243+82C>T	ATP7B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 377539	NM_000053.4(ATP7B):c.3243+5G>A	ATP7B	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2579959	NM_000053.4(ATP7B):c.3209C>G (p.Pro1070Arg)	ATP7B (P1005R +25 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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