"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ATP7B"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 434448	NM_000053.4(ATP7B):c.4361T>C (p.Leu1454Pro)	ATP7B (L1454P +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 968828	NM_000053.4(ATP7B):c.4319G>A (p.Arg1440Gln)	ATP7B (R1233Q +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 1414053	NM_000053.4(ATP7B):c.4288C>A (p.Leu1430Met)	ATP7B (L1223M +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 797785	NM_000053.4(ATP7B):c.4287G>A (p.Ser1429=)	ATP7B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 972771	NM_000053.4(ATP7B):c.4271A>G (p.Tyr1424Cys)	ATP7B (Y1340C +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GUncertain significance
Select item 810697	NM_000053.4(ATP7B):c.4232G>A (p.Arg1411Gln)	ATP7B (R1300Q +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GUncertain significance
Select item 991411	NM_000053.4(ATP7B):c.4175T>C (p.Met1392Thr)	ATP7B (M1185T +4 more)	Single nucleotide variant (missense variant)	Wilson disease	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 928973	NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro)	ATP7B (L1164P +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
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 1345783	NM_000053.4(ATP7B):c.4070C>T (p.Ala1357Val)	ATP7B (A1246V +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GUncertain significance
Select item 188947	NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter)	ATP7B (Q1351* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1525910	NM_000053.4(ATP7B):c.4045G>C (p.Val1349Leu)	ATP7B (V1349L +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 1655051	NM_000053.4(ATP7B):c.4038C>T (p.Ile1346=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 754357	NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +1 more	GLikely benign
Select item 1020318	NM_000053.4(ATP7B):c.4030A>C (p.Met1344Leu)	ATP7B (M1137L +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 665925	NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp)	ATP7B (G1230D +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 1210360	NM_000053.4(ATP7B):c.3928A>G (p.Ser1310Gly)	ATP7B (S1103G +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GUncertain significance
Select item 189149	NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)	ATP7B (L1299F +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 881760	NM_000053.4(ATP7B):c.3892G>A (p.Val1298Ile)	ATP7B (V1220I +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 660004	NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val)	ATP7B (A1088V +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 958649	NM_000053.4(ATP7B):c.3843dup (p.Val1282fs)	ATP7B (V1075fs +4 more)	Duplication (frameshift variant)	Wilson disease +1 more	GPathogenic
Select item 859745	NM_000053.4(ATP7B):c.3842G>T (p.Gly1281Val)	ATP7B (G1074V +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GUncertain significance
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 633067	NM_000053.4(ATP7B):c.3749C>G (p.Ala1250Gly)	ATP7B (A1250G +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 549941	NM_000053.4(ATP7B):c.3700-1G>A	ATP7B	Single nucleotide variant (splice acceptor variant +1 more)	Wilson disease	GLikely pathogenic
Select item 862186	NM_000053.4(ATP7B):c.3695C>T (p.Thr1232Ile)	ATP7B (T1148I +4 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 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 1115119	NM_000053.4(ATP7B):c.3645C>T (p.Asp1215=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +1 more	GLikely benign
Select item 928742	NM_000053.4(ATP7B):c.3637G>A (p.Gly1213Ser)	ATP7B (G1006S +4 more)	Single nucleotide variant (missense variant)	not specified +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 994351	NM_000053.4(ATP7B):c.3615T>C (p.Ala1205=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely 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 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 1111884	NM_000053.4(ATP7B):c.3576C>T (p.Ile1192=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +1 more	GLikely benign
Select item 495416	NM_000053.4(ATP7B):c.3556+1G>T	ATP7B	Single nucleotide variant (splice donor variant +1 more)	Wilson disease	GPathogenic/Likely pathogenic
Select item 189050	NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys)	ATP7B (E1173K +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 210485	NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val)	ATP7B (M1169V +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GConflicting classifications of pathogenicity
Select item 810694	NM_000053.4(ATP7B):c.3502G>A (p.Ala1168Thr)	ATP7B (A961T +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GUncertain significance
Select item 282908	NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His)	ATP7B (R1156H +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GUncertain significance
Select item 1679504	NM_000053.4(ATP7B):c.3452G>C (p.Arg1151Pro)	ATP7B (R1040P +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
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 883709	NM_000053.4(ATP7B):c.3376C>T (p.His1126Tyr)	ATP7B (H1042Y +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
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 881368	NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp)	ATP7B (G1027D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 370820	NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser)	ATP7B (G1099S +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 312382	NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met)	ATP7B (T1092M +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GConflicting classifications of pathogenicity
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 188953	NM_000053.4(ATP7B):c.3244-2A>G	ATP7B	Single nucleotide variant (splice acceptor variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
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 495413	NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val)	ATP7B (A1074V +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GConflicting classifications of pathogenicity
Select item 456555	NM_000053.4(ATP7B):c.3211T>C (p.Leu1071=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +1 more	GLikely benign
Select item 3848	NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)	ATP7B (H1069Q +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 370081	NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)	ATP7B (E1064A +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 312383	NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu)	ATP7B (G1061E +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1407650	NM_000053.4(ATP7B):c.3170T>C (p.Leu1057Pro)	ATP7B (L850P +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 551108	NM_000053.4(ATP7B):c.3147del (p.Thr1050fs)	ATP7B (T1050fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 312384	NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)	ATP7B (R1041W +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188722	NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)	ATP7B (A1018V +4 more)	Single nucleotide variant (missense variant)	ATP7B-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 188781	NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)	ATP7B (A1003V +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 557405	NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg)	ATP7B (G1000R +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 188831	NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)	ATP7B (P992L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 35710	NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met)	ATP7B (T977M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 1077945	NM_000053.4(ATP7B):c.2922G>A (p.Thr974=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 289465	NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met)	ATP7B (T974M +4 more)	Single nucleotide variant (missense variant)	Wilson disease +3 more	GUncertain significance
Select item 3860	NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)	ATP7B (R969Q +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GPathogenic
Select item 381534	NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)	ATP7B (R969W +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 189058	NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)	ATP7B (G943D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 371483	NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys)	ATP7B (W939C +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 188713	NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met)	ATP7B (T935M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553038	NM_000053.4(ATP7B):c.2797A>C (p.Thr933Pro)	ATP7B (T933P +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 633075	NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter)	ATP7B (S932* +3 more)	Single nucleotide variant (nonsense +1 more)	Wilson disease	GPathogenic
Select item 188725	NM_000053.4(ATP7B):c.2731-2A>G	ATP7B	Single nucleotide variant (splice acceptor variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 991418	NM_000053.4(ATP7B):c.2730G>A (p.Lys910=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +1 more	GUncertain significance
Select item 623827	NM_000053.4(ATP7B):c.2715G>C (p.Glu905Asp)	ATP7B (E905D +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 755550	NM_000053.4(ATP7B):c.2679C>T (p.Asp893=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +1 more	GLikely benign
Select item 157939	NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)	ATP7B (G869R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1210359	NM_000053.4(ATP7B):c.2551A>G (p.Met851Val)	ATP7B (M689V +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GUncertain significance
Select item 554444	NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)	ATP7B (T850I +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 188879	NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu)	ATP7B (P840L +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GPathogenic
Select item 794972	NM_000053.4(ATP7B):c.2490C>T (p.Ile830=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 1378949	NM_000053.4(ATP7B):c.2480G>A (p.Arg827Gln)	ATP7B (R665Q +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 551685	NM_000053.4(ATP7B):c.2480G>T (p.Arg827Leu)	ATP7B (R827L +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 285881	NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp)	ATP7B (R827W +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GConflicting classifications of pathogenicity
Select item 1583674	NM_000053.4(ATP7B):c.2400C>T (p.Ala800=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 1334164	NM_000053.4(ATP7B):c.2391_2393del (p.Leu798del)	ATP7B (L636del +4 more)	Deletion (inframe_deletion)	not specified +3 more	GUncertain significance
Select item 936731	NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile)	ATP7B (T710I +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3852	NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)	ATP7B (R778L +2 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease +3 more	GPathogenic
Select item 456553	NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp)	ATP7B (R778W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 156283	NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)	ATP7B (R778G +2 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 1481502	NM_000053.4(ATP7B):c.2320A>G (p.Ile774Val)	ATP7B (I663V +2 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 456552	NM_000053.4(ATP7B):c.2304dup (p.Met769fs)	ATP7B (M658fs +2 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 35706	NM_000053.4(ATP7B):c.2305A>G (p.Met769Val)	ATP7B (M769V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 1103327	NM_000053.4(ATP7B):c.2298G>A (p.Thr766=)	ATP7B	Single nucleotide variant (synonymous variant +1 more)	Wilson disease	GLikely benign
Select item 633064	NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)	ATP7B (T766M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 254763	NM_000053.4(ATP7B):c.2268G>A (p.Ala756=)	ATP7B	Single nucleotide variant (synonymous variant +1 more)	Wilson disease +1 more	GLikely benign

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