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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 551139	NM_000053.4(ATP7B):c.4387C>T (p.Gln1463Ter)	ATP7B (Q1463* +4 more)	Single nucleotide variant (nonsense)	Wilson disease	GUncertain significance
Select item 554091	NM_000053.4(ATP7B):c.4336dup (p.Asp1446fs)	ATP7B (D1335fs +4 more)	Duplication (frameshift variant)	Wilson disease	GUncertain significance
Select item 557687	NM_000053.4(ATP7B):c.4325del (p.Ser1442fs)	ATP7B (S1358fs +4 more)	Deletion (frameshift variant)	Wilson disease	GUncertain significance
Select item 551073	NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs)	ATP7B (S1318fs +4 more)	Duplication (frameshift variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 371337	NM_000053.4(ATP7B):c.4242del (p.Arg1415fs)	ATP7B (R1208fs +4 more)	Deletion (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 444316	NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser)	ATP7B (G1405S +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GConflicting classifications of pathogenicity
Select item 553449	NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs)	ATP7B (Y1177fs +4 more)	Duplication (frameshift variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 552956	NM_000053.4(ATP7B):c.4125-2A>G	ATP7B	Single nucleotide variant (splice acceptor variant)	Wilson disease	GConflicting classifications of pathogenicity
Select item 551653	NM_000053.4(ATP7B):c.4124G>C (p.Cys1375Ser)	ATP7B (C1375S +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 552788	NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro)	ATP7B (L1373P +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GConflicting classifications of pathogenicity
Select item 371170	NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter)	ATP7B (Q1372* +4 more)	Single nucleotide variant (nonsense)	Wilson disease	GPathogenic
Select item 556300	NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu)	ATP7B (S1369L +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GConflicting classifications of pathogenicity
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 188908	NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe)	ATP7B (S1363F +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 556609	NM_000053.4(ATP7B):c.4064G>A (p.Gly1355Asp)	ATP7B (G1355D +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 555192	NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser)	ATP7B (G1355S +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GConflicting classifications of pathogenicity
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 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 553709	NM_000053.4(ATP7B):c.4022-2A>C	ATP7B	Single nucleotide variant (splice acceptor variant)	Wilson disease	GLikely pathogenic
Select item 552929	NM_000053.4(ATP7B):c.4006del (p.Ile1336fs)	ATP7B (I1225fs +4 more)	Deletion (frameshift variant)	Wilson disease	GPathogenic
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 551504	NM_000053.4(ATP7B):c.3971A>C (p.Asn1324Thr)	ATP7B (N1324T +4 more)	Single nucleotide variant (missense variant)	Wilson disease	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 370093	NM_000053.4(ATP7B):c.3948del (p.Thr1317fs)	ATP7B (T1233fs +4 more)	Deletion (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 370092	NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs)	ATP7B (K1108fs +4 more)	Deletion (frameshift variant)	Wilson disease	GLikely pathogenic
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 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 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 553585	NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys)	ATP7B (E1293K +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 555278	NM_000053.4(ATP7B):c.3852_3875del (p.Gly1285_Ile1292del)	ATP7B	Deletion (inframe_deletion)	Wilson disease	GConflicting classifications of pathogenicity
Select item 556754	NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg)	ATP7B (T1288R +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 554964	NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met)	ATP7B (T1288M +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 550301	NM_000053.4(ATP7B):c.3842G>A (p.Gly1281Asp)	ATP7B (G1281D +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GConflicting classifications of pathogenicity
Select item 553495	NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly)	ATP7B (D1279G +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 551986	NM_000053.4(ATP7B):c.3821C>T (p.Ala1274Val)	ATP7B (A1274V +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 553360	NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln)	ATP7B (P1273Q +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 189139	NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu)	ATP7B (P1273L +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 550531	NM_000053.4(ATP7B):c.3809del (p.Asn1270fs)	ATP7B (N1192fs +4 more)	Deletion (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 552417	NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala)	ATP7B (D1267A +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 370749	NM_000053.4(ATP7B):c.3800del (p.Asp1267fs)	ATP7B (D1156fs +4 more)	Deletion (frameshift variant)	Wilson disease	GLikely pathogenic
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 550902	NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)	ATP7B (V1262F +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 557176	NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg)	ATP7B (Q1256R +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GConflicting classifications of pathogenicity
Select item 550125	NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln)	ATP7B (H1247Q +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GConflicting classifications of pathogenicity
Select item 556009	NM_000053.4(ATP7B):c.3733C>G (p.Pro1245Ala)	ATP7B (P1245A +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 552915	NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val)	ATP7B (A1241V +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 456557	NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly)	ATP7B (V1239G +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GConflicting classifications of pathogenicity
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 555144	NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro)	ATP7B (T1232P +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 552161	NM_000053.4(ATP7B):c.3662_3664del (p.Gly1221del)	ATP7B (G1221del +4 more)	Deletion (inframe_deletion)	Wilson disease	GUncertain significance
Select item 282915	NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)	ATP7B (D1222fs +4 more)	Deletion (frameshift variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 552337	NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu)	ATP7B (G1221E +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
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 189015	NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del)	ATP7B	Deletion (inframe_deletion)	Wilson disease +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 556592	NM_000053.4(ATP7B):c.3644A>G (p.Asp1215Gly)	ATP7B (D1215G +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 549999	NM_000053.4(ATP7B):c.3638G>T (p.Gly1213Val)	ATP7B (G1213V +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GConflicting classifications of pathogenicity
Select item 189056	NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter)	ATP7B (Q1200* +4 more)	Single nucleotide variant (nonsense)	Wilson disease	GPathogenic/Likely pathogenic
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 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 558238	NM_000053.4(ATP7B):c.3556G>C (p.Gly1186Arg)	ATP7B (G1186R +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 188900	NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)	ATP7B (G1186S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 189108	NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter)	ATP7B (D1107* +4 more)	Duplication (nonsense)	Wilson disease	GPathogenic/Likely pathogenic
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 370427	NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)	ATP7B (Q1177* +4 more)	Single nucleotide variant (nonsense)	Wilson disease +1 more	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 557466	NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr)	ATP7B (M1169T +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GLikely pathogenic
Select item 552499	NM_000053.4(ATP7B):c.3502G>T (p.Ala1168Ser)	ATP7B (A1168S +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 35721	NM_000053.4(ATP7B):c.3489C>T (p.Ser1163=)	ATP7B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
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 495415	NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His)	ATP7B (R1151H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 550770	NM_000053.4(ATP7B):c.3451C>G (p.Arg1151Gly)	ATP7B (R1151G +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 526656	NM_000053.4(ATP7B):c.3449del (p.Asn1150fs)	ATP7B (N1039fs +4 more)	Deletion (frameshift variant)	Wilson disease	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 553078	NM_000053.4(ATP7B):c.3436G>A (p.Val1146Met)	ATP7B (V1146M +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 555672	NM_000053.4(ATP7B):c.3431_3433del (p.Phe1144del)	ATP7B (F1144del +4 more)	Deletion (inframe_deletion)	Wilson disease	GUncertain significance
Select item 370151	NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His)	ATP7B (Q1142H +4 more)	Single nucleotide variant (missense variant)	not specified +1 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 556893	NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs)	ATP7B (E1006fs +4 more)	Deletion (frameshift variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 371498	NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp)	ATP7B (V1106D +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 495414	NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)	ATP7B (V1106I +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GConflicting classifications of pathogenicity
Select item 430725	NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr)	ATP7B (I1102T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188808	NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg)	ATP7B (G1101R +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
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 553303	NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr)	ATP7B (C1091Y +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 554311	NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu)	ATP7B (G1089E +4 more)	Single nucleotide variant (missense variant)	Wilson disease	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 495412	NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)	ATP7B (L1083F +4 more)	Single nucleotide variant (missense variant)	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 557958	NM_000053.4(ATP7B):c.3243+1G>A	ATP7B	Single nucleotide variant (splice donor variant +1 more)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 550837	NM_000053.4(ATP7B):c.3208C>T (p.Pro1070Ser)	ATP7B (P1070S +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 550668	NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly)	ATP7B (E1068G +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 550969	NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys)	ATP7B (E1064K +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 157945	NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val)	ATP7B (A1063V +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GConflicting classifications of pathogenicity
Select item 552840	NM_000053.4(ATP7B):c.3157dup (p.Leu1053fs)	ATP7B (L969fs +4 more)	Duplication (frameshift variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 555650	NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu)	ATP7B (P1052L +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
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 550536	NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro)	ATP7B (L1043P +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GLikely pathogenic

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