C0019202[trait identifier] AND "Color Diagnostics, LLC DBA Color Healt - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 35732	NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=)	ATP7B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1103682	NM_000053.4(ATP7B):c.4308C>T (p.Asp1436=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 35731	NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=)	ATP7B	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 35730	NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)	ATP7B (T1434M +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3893864	NM_000053.4(ATP7B):c.4258G>T (p.Asp1420Tyr)	ATP7B (D1139Y +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 424208	NM_000053.4(ATP7B):c.4163C>T (p.Ala1388Val)	ATP7B (A1388V +4 more)	Single nucleotide variant (missense variant)	Wilson disease +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)	See cases +4 more	GConflicting classifications of pathogenicity
Select item 2774736	NM_000053.4(ATP7B):c.4116G>C (p.Gln1372His)	ATP7B (Q1178H +28 more)	Single nucleotide variant (missense variant)	Wilson disease	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 526665	NM_000053.4(ATP7B):c.4021+3A>G	ATP7B	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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)	Wilson disease +3 more	GConflicting classifications of pathogenicity
Select item 881761	NM_000053.4(ATP7B):c.3874A>G (p.Ile1292Val)	ATP7B (I1208V +4 more)	Single nucleotide variant (missense variant)	Wilson disease	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	GPathogenic
Select item 456557	NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly)	ATP7B (V1239G +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1144812	NM_000053.4(ATP7B):c.3708C>T (p.Ile1236=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 918134	NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer)	ATP7B	Indel (nonsense)	Wilson disease	GPathogenic/Likely pathogenic
Select item 312379	NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)	ATP7B (I1230V +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 632662	NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu)	ATP7B (R1224L +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3075586	NM_000053.4(ATP7B):c.3670C>T (p.Arg1224Trp)	ATP7B (R1008W +27 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 382098	NM_000053.4(ATP7B):c.3623C>T (p.Thr1208Met)	ATP7B (T1208M +4 more)	Single nucleotide variant (missense variant)	not provided +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)	not specified +2 more	GBenign/Likely benign
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)	not provided +2 more	GUncertain significance
Select item 35722	NM_000053.4(ATP7B):c.3557-6C>T	ATP7B	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3894068	NM_000053.4(ATP7B):c.3541C>G (p.Leu1181Val)	ATP7B (L1019V +25 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
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 312380	NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg)	ATP7B (P1141R +4 more)	Single nucleotide variant (missense variant)	not provided +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)	Inborn genetic diseases +3 more	GBenign
Select item 1134697	NM_000053.4(ATP7B):c.3416C>G (p.Ala1139Gly)	ATP7B (A1028G +4 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GConflicting classifications of pathogenicity
Select item 386708	NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)	ATP7B	Single nucleotide variant (synonymous variant)	not specified +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)	Wilson disease +2 more	GBenign/Likely benign
Select item 254768	NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=)	ATP7B	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 312381	NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)	ATP7B	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2911533	NM_000053.4(ATP7B):c.3379C>T (p.Leu1127=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
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 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 254767	NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=)	ATP7B	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 881368	NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp)	ATP7B (G1027D +4 more)	Single nucleotide variant (missense variant)	Wilson disease +3 more	GUncertain significance
Select item 157947	NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=)	ATP7B	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 969424	NM_000053.4(ATP7B):c.3320_3322del (p.Ser1107del)	ATP7B (S996del +4 more)	Deletion (inframe_deletion)	Wilson disease	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 1654074	NM_000053.4(ATP7B):c.3261C>G (p.Thr1087=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 1100515	NM_000053.4(ATP7B):c.3244-5C>T	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GLikely benign
Select item 1528153	NM_000053.4(ATP7B):c.3217G>A (p.Val1073Met)	ATP7B (V1073M +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GConflicting classifications of pathogenicity
Select item 3848	NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)	ATP7B (H1069Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 370081	NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)	ATP7B (E1064A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 671656	NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=)	ATP7B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 35719	NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)	ATP7B (H1034R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 210484	NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=)	ATP7B	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 430276	NM_000053.4(ATP7B):c.3061A>G (p.Ile1021Val)	ATP7B (I1021V +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 188722	NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)	ATP7B (A1018V +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 35716	NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +2 more	GConflicting classifications of pathogenicity
Select item 1156053	NM_000053.4(ATP7B):c.3039G>A (p.Lys1013=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
Select item 35715	NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=)	ATP7B	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 35714	NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +3 more	GBenign
Select item 35713	NM_000053.4(ATP7B):c.2973G>A (p.Thr991=)	ATP7B	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 35712	NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)	ATP7B (T991M +4 more)	Single nucleotide variant (missense variant)	Wilson disease +3 more	GConflicting classifications of pathogenicity
Select item 285883	NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +3 more	GConflicting classifications of pathogenicity
Select item 3860	NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)	ATP7B (R969Q +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 35709	NM_000053.4(ATP7B):c.2866-13G>C	ATP7B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 35708	NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys)	ATP7B (R952K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 283616	NM_000053.4(ATP7B):c.2806T>G (p.Leu936Val)	ATP7B (L936V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 193969	NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)	ATP7B (I929V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1386530	NM_000053.4(ATP7B):c.2762G>A (p.Ser921Asn)	ATP7B (S837N +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 312386	NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)	ATP7B (R919W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3894135	NM_000053.4(ATP7B):c.2736C>G (p.Pro912=)	ATP7B	Single nucleotide variant (synonymous variant +1 more)	Wilson disease	GLikely benign
Select item 1585900	NM_000053.4(ATP7B):c.2731-14T>C	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GLikely benign
Select item 157939	NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)	ATP7B (G869R +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 697831	NM_000053.4(ATP7B):c.2604C>T (p.Pro868=)	ATP7B	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 312387	NM_000053.4(ATP7B):c.2544C>T (p.Gly848=)	ATP7B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 35707	NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)	ATP7B (K832R +4 more)	Single nucleotide variant (missense variant)	Wilson disease +3 more	GBenign
Select item 2774738	NM_000053.4(ATP7B):c.2473G>A (p.Val825Met)	ATP7B (V609M +14 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 507932	NM_000053.4(ATP7B):c.2448-11G>A	ATP7B	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 3075617	NM_000053.4(ATP7B):c.2200G>A (p.Val734Ile)	ATP7B (V591I +6 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 514917	NM_000053.4(ATP7B):c.2190C>T (p.Asp730=)	ATP7B	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 157936	NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)	ATP7B	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 456551	NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys)	ATP7B (R725K +2 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease +1 more	GConflicting classifications of pathogenicity
Select item 756012	NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=)	ATP7B	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2715663	NM_000053.4(ATP7B):c.2125C>T (p.Leu709Phe)	ATP7B (L593F +6 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GConflicting classifications of pathogenicity
Select item 35705	NM_000053.4(ATP7B):c.2122-8T>G	ATP7B	Single nucleotide variant (intron variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 995699	NM_000053.4(ATP7B):c.2029G>A (p.Glu677Lys)	ATP7B (E677K +1 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GConflicting classifications of pathogenicity
Select item 188862	NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer)	ATP7B	Deletion (nonsense +1 more)	Wilson disease +1 more	GPathogenic
Select item 157933	NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)	ATP7B (M665I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 495404	NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)	ATP7B (M665V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 387748	NM_000053.4(ATP7B):c.1947-4C>T	ATP7B	Single nucleotide variant (intron variant)	Wilson disease +2 more	GConflicting classifications of pathogenicity
Select item 3862	NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)	ATP7B (M645R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 420002	NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser)	ATP7B (L641S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3075306	NM_000053.4(ATP7B):c.1919A>G (p.His640Arg)	ATP7B (H497R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 3894368	NM_000053.4(ATP7B):c.1901G>A (p.Arg634Lys)	ATP7B (R491K +4 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 2153144	NM_000053.4(ATP7B):c.1840G>A (p.Gly614Ser)	ATP7B (G603S +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 762839	NM_000053.4(ATP7B):c.1830G>A (p.Pro610=)	ATP7B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 439430	NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu)	ATP7B (P610L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1421824	NM_000053.4(ATP7B):c.1820A>G (p.Lys607Arg)	ATP7B (K607R +1 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 386031	NM_000053.4(ATP7B):c.1728G>A (p.Ala576=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +3 more	GBenign/Likely benign
Select item 507142	NM_000053.4(ATP7B):c.1708-14A>G	ATP7B	Single nucleotide variant (intron variant)	Wilson disease +1 more	GLikely benign
Select item 1414204	NM_000053.4(ATP7B):c.1666A>G (p.Met556Val)	ATP7B (M556V +1 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 92386	NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys)	ATP7B (E541K +1 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GConflicting classifications of pathogenicity

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