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

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Items: 61

	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)	not provided +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 +2 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)	Wilson disease +2 more	GConflicting classifications of pathogenicity
Select item 157957	NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)	ATP7B (P1379S +4 more)	Single nucleotide variant (missense variant)	not specified +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 35727	NM_000053.4(ATP7B):c.3903+6C>T	ATP7B	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 157954	NM_000053.4(ATP7B):c.3891C>T (p.Val1297=)	ATP7B	Single nucleotide variant (synonymous variant)	not specified +3 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)	not provided +3 more	GConflicting classifications of pathogenicity
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)	Wilson disease +3 more	GConflicting classifications of pathogenicity
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)	Wilson disease +2 more	GBenign/Likely benign
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 810694	NM_000053.4(ATP7B):c.3502G>A (p.Ala1168Thr)	ATP7B (A961T +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 312380	NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg)	ATP7B (P1141R +4 more)	Single nucleotide variant (missense variant)	Wilson disease +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 +2 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 +1 more	GConflicting classifications of pathogenicity
Select item 386708	NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)	ATP7B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
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 254767	NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=)	ATP7B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 881368	NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp)	ATP7B (G1027D +4 more)	Single nucleotide variant (missense variant)	ATP7B-related disorder +3 more	GUncertain significance
Select item 1654074	NM_000053.4(ATP7B):c.3261C>G (p.Thr1087=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GLikely benign
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)	Wilson disease +2 more	GPathogenic/Likely pathogenic
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 provided +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 35716	NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)	ATP7B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +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)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 35714	NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=)	ATP7B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 35713	NM_000053.4(ATP7B):c.2973G>A (p.Thr991=)	ATP7B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 35712	NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)	ATP7B (T991M +4 more)	Single nucleotide variant (missense variant)	ATP7B-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 35709	NM_000053.4(ATP7B):c.2866-13G>C	ATP7B	Single nucleotide variant (intron variant)	Wilson disease +1 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 +2 more	GBenign
Select item 193969	NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)	ATP7B (I929V +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease +3 more	GConflicting classifications of pathogenicity
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)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 35707	NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)	ATP7B (K832R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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 157936	NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)	ATP7B	Single nucleotide variant (synonymous variant +1 more)	Wilson disease +3 more	GBenign/Likely benign
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)	Wilson disease +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)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 387748	NM_000053.4(ATP7B):c.1947-4C>T	ATP7B	Single nucleotide variant (intron variant)	not specified +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 +3 more	GPathogenic/Likely pathogenic
Select item 254760	NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)	ATP7B	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 35703	NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)	ATP7B (V536A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 807938	NM_000053.4(ATP7B):c.1555G>A (p.Val519Met)	ATP7B (V408M +1 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GUncertain significance
Select item 2774739	NM_000053.4(ATP7B):c.1450G>A (p.Ala484Thr)	ATP7B (A373T +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 284672	NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr)	ATP7B (A476T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 35702	NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu)	ATP7B (V456L +1 more)	Single nucleotide variant (missense variant)	Wilson disease +2 more	GBenign
Select item 967484	NM_000053.4(ATP7B):c.1351G>A (p.Gly451Ser)	ATP7B (G340S +1 more)	Single nucleotide variant (missense variant)	Wilson disease	GConflicting classifications of pathogenicity
Select item 312391	NM_000053.4(ATP7B):c.1278C>T (p.Val426=)	ATP7B	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 35701	NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)	ATP7B (S406A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 632660	NM_000053.4(ATP7B):c.1158G>T (p.Gly386=)	ATP7B	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2148146	NM_000053.4(ATP7B):c.1013A>G (p.His338Arg)	ATP7B (H306R +1 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 617986	NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp)	ATP7B (R166W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 555735	NM_000053.4(ATP7B):c.406A>T (p.Arg136Trp)	ATP7B (R136W)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 157928	NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)	ATP7B (N41S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 61