"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "ATP7B"[gen - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 157956	NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)	ATP7B (G1347S +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GConflicting classifications of pathogenicity
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 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 3250441	NM_000053.4(ATP7B):c.3707T>C (p.Ile1236Thr)	ATP7B (I1009T +27 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
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 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 3242147	NM_000053.4(ATP7B):c.3445G>A (p.Gly1149Arg)	ATP7B (G1000R +25 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2415623	NM_000053.4(ATP7B):c.3434C>G (p.Ser1145Cys)	ATP7B (S1002C +25 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 992208	NM_000053.4(ATP7B):c.3412+1G>A	ATP7B	Single nucleotide variant (splice donor variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
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 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 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 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 188802	NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)	ATP7B (A1003T +4 more)	Single nucleotide variant (missense variant)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 35712	NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)	ATP7B (T991M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1339020	NM_000053.4(ATP7B):c.2837A>T (p.Asp946Val)	ATP7B (D835V +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 2627403	NM_000053.4(ATP7B):c.2759T>G (p.Phe920Cys)	ATP7B (F490C +15 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 188814	NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe)	ATP7B (L795F +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 550914	NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln)	ATP7B (R778Q +2 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease +1 more	GPathogenic
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 2585187	NM_000053.4(ATP7B):c.2212A>C (p.Ser738Arg)	ATP7B (S595R +6 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 555609	NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp)	ATP7B (G711W +2 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease +1 more	GPathogenic/Likely pathogenic
Select item 156281	NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)	ATP7B (G710S +2 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease +1 more	GConflicting classifications of pathogenicity
Select item 1339249	NM_000053.4(ATP7B):c.2121+1G>A	ATP7B	Single nucleotide variant (intron variant +1 more)	Wilson disease	GLikely pathogenic
Select item 157933	NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)	ATP7B (M665I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1456063	NM_000053.4(ATP7B):c.1963del (p.Leu655fs)	ATP7B (L544fs +1 more)	Deletion (frameshift variant +1 more)	Wilson disease	GPathogenic/Likely pathogenic
Select item 526655	NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr)	ATP7B (D642Y +1 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GPathogenic/Likely pathogenic
Select item 370955	NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer)	ATP7B	Deletion (frameshift variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 3850	NM_000053.4(ATP7B):c.1708-1G>C	ATP7B	Single nucleotide variant (splice acceptor variant +1 more)	Wilson disease +1 more	GPathogenic
Select item 2627475	NM_000053.4(ATP7B):c.1460C>A (p.Pro487Gln)	ATP7B (P344Q +3 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 2163518	NM_000053.4(ATP7B):c.1172del (p.Ser391fs)	ATP7B (S391fs +1 more)	Deletion (frameshift variant)	Wilson disease	GPathogenic/Likely pathogenic
Select item 3864	NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter)	ATP7B (Q289*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188930	NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)	ATP7B (C271*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 3234895	NM_000053.4(ATP7B):c.732del (p.Asn244fs)	ATP7B (N212fs +1 more)	Deletion (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 3236436	NM_000053.4(ATP7B):c.727_728insA (p.Phe243fs)	ATP7B (F211fs +1 more)	Insertion (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 3341322	NM_000053.4(ATP7B):c.448_452del (p.Glu150fs)	ATP7B (E118fs +1 more)	Deletion (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 2585005	NM_000053.4(ATP7B):c.431T>C (p.Val144Ala)	ATP7B (V144A +1 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 3234948	NM_000053.4(ATP7B):c.368_369insTTCGAAGC (p.Ile125fs)	ATP7B (I125fs)	Insertion (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 2417826	NM_000053.4(ATP7B):c.365A>G (p.Glu122Gly)	ATP7B (E122G +1 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 2422358	NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala)	ATP7B (G53A +1 more)	Single nucleotide variant (missense variant)	Wilson disease	GConflicting classifications of pathogenicity
Select item 370529	NM_000053.4(ATP7B):c.174dup (p.Thr59fs)	ATP7B (T59fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 419611	NM_000053.4(ATP7B):c.19_20del (p.Gln7fs)	ATP7B (Q7fs)	Deletion (frameshift variant)	Wilson disease +3 more	GConflicting classifications of pathogenicity
Select item 3362264	NM_000053.4(ATP7B):c.3871del (p.Ala1291fs)	ATP7B (A1010fs +27 more)	Deletion (frameshift variant +1 more)	Wilson disease	GUncertain significance

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Items: 44