"Clinical Genetics, Academic Medical Center"[submitter] AND "ATP7B"[ge - ClinVar

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Items: 22

	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)	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 +2 more	GBenign/Likely benign
Select item 35727	NM_000053.4(ATP7B):c.3903+6C>T	ATP7B	Single nucleotide variant (intron variant)	Wilson disease +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 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)	not provided +1 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 +2 more	GBenign
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 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 35715	NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +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 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)	Inborn genetic diseases +2 more	GBenign
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 254765	NM_000053.4(ATP7B):c.2484C>T (p.Gly828=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +2 more	GConflicting classifications of pathogenicity
Select item 157938	NM_000053.4(ATP7B):c.2355+13T>G	ATP7B	Single nucleotide variant (intron variant)	not specified +2 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)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 35704	NM_000053.4(ATP7B):c.1707+9T>C	ATP7B	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 35702	NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu)	ATP7B (V456L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
Select item 312391	NM_000053.4(ATP7B):c.1278C>T (p.Val426=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease +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

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Items: 22