Table 2.

Selected Patients from Cohort. Peptide concentrations are given in pmol/L. The diagnostic cutoff for ATP7B 1056 is 80.8 pmol/L. The diagnostic cutoff for ATP7B 887 is 114.0 pmol/L.

Patient	Gender	Age	Variant1	Annotation 1	Variant2	Annotation 2	ATP7B 1056 (pmol/L)	ATP7B 887 pmol/L	CPL (mg/dl)	Leipzig Score	Liver Copper (ug/g Tissue)	KF Ring	Presentation
False Negative (n=17)
110	F	17	p.G710A	Path	p.G710S	Path	88.9	133.0	14	7	-	N	-
10	M	34	p.G710S	Path	p.G710S	Path	120.4	155.3	<9	8	-	Y	N
11	M	17	p.G710S	Path	p.G710S	Path	193.2	264.3	12	10	-	Y	B*
12	F	44*	p.G710S	Path	p.G710S	Path	151.1	193.6	9.1	11	164	Y	N
13	M	19	p.G710S	Path	p.G710S	Path	252.4	381.7	20.7	8	1243	Y	B
111	M	47	p.M665I	Conflicting	p.G710S	Path	133.9	213.0	15.5	7	324	N	H
112	M	NA	p.M665I	Conflicting	p.G710S	Path	94.9	144.4	NA	6	324	N	H
140	F	29	p.R616Q	Path	p.L1305P	Path	105.5	151.7	2	8	-	Y	B
149	F	17	p.H1069Q	Path	p.M769V	Likely Path	130.2	180.1	10	8	2047	N	H
150	F	31	p.N41S /p.I1021V	Likely Path	p.M996T	Likely Path	129.1	218.6	4	6	>250	N	H
153	F	37	p.H1069Q	Path	p.P1273L	Path	105.3	188.5	8	10	-	Y	N
154	F	18	p.M769H-fs	Path	p.P1273L	Path	121.4	170.4	5	10	-	Y	N
170	M	NA	p.H1069Q	Path	p.R969Q	Path	90.5	131.4	NA	4	-	-	-
124	M	17	p.Q7D-fs*14	VUS	p.H1069Q	Path	135.8	242.5	19	5	-	N	H
171	F	9	p.H1069Q	Path	p.R969Q	Path	145.6	220.9	16	5	-	N	H
176	M	NA	p.R616W	Path	p.R969Q	Path	134.2	134.2	25	7	-	N	H
183	F	31	p.T977M	Path	p.T991A	VUS	137.9	191.7	12	3	-	Y	H
Patients with One Pathogenic/Likely Pathogenic variant in Combination with one VUS (n=37)
124	M	17	p.H1069Q	Path	p.Q7D-fs*14	VUS	135.8	242.5	19	5	-	N	H
125	M	9	p.H1069Q	Path	p.Q7D-fs*14	VUS	79.4	176.3	16	5	-	N	H
131	F	13	p.H1069Q	Path	p.I1007T-fs	VUS	ND	5.4	14	5	-	Y	H
55	M	59	p.H1069Q	Path	arr[GRCh37] 13q14.3(52541594_52548863)x1	VUS	ND	16.1	13	5	-	Y	H
87	F	19	p.H1069Q	Path	p.D1447G-fs	VUS	67.5	130.7	13	6	-	N	H
159	M	40	p.R827W	Likely Path	p.R1320T	VUS	58.7	93.4	13	7	-	N	N
133	M	18	p.H1069Q	Path	p.K1028S-fs	VUS	ND	3.9	12	7	842	N	H*
183	F	31	p.T977M	Path	p.T991A	VUS	137.9	191.7	12	3	-	Y	H
164	F	NA	p.H1069Q	Path	p.R778P	VUS	ND	ND	11	9	1332	N	H
118	M	6	p.H1069Q	Path	p.G1011X	VUS	ND	10.0	10	6	-	N	H
157	F	8	p.R1041W	Likely Path	p.D765Y	VUS	6.8	20.7	10	8	1211	N	H
163	M	2 months	p.R778L	Path	p.V1106I	VUS	4.0	9.7	10	-	-	N	A
182	M	40	p.T850I	Likely Path	p.G515S	VUS	11.6	13.4	10	6	-	Y	B
67	F	17	c.2865+1G>A	Path	p.Ser135*	VUS	ND	ND	<13	9	-	N	H
167	F	19	p.H1069Q	Path	p.R919L	VUS	3.6	22.1	9	10	-	Y	N
95	M	53	p.H1069Q	Path	p.F1343dup	VUS	ND	ND	9	3	-	Y	H
108	M	15	p.H1069Q	Path	p.G1341E	VUS	ND	10.4	6.7	8	-	Y	H
181	F	41	p.G1266R	Path	p.T807I	VUS	8.3	5.9	6	9	291	N	H
193	F	15	p.S1365C-fs*12	Path	p.Y743I-fs*19	VUS	ND	ND	<6	7	-	N	H
80	M	40	p.A874V	Path	c.2299InsC	VUS	6.0	10.5	5.5	10	1575	Y	H*
120	F	13	p.H1069Q	Path	p.Lys269*	VUS	ND	ND	5	5	923	N	H
142	M	39	p.T977M	Path	p.L1350P	VUS	22.6	32.6	5	10	-	Y	B
76	M	5	p.A1018V	Path	p.E458X	VUS	26.4	47.5	4.1	8	793	N	H
141	F	46	p.H1069Q	Path	p.L1333P	VUS	ND	6.3	4	7	-	Y	H
184	M	10	p.A874V	Path	p.V1106I	VUS	20.1	15.5	4	-	-	-	-
119	M	38	p.H1069Q	Path	p.K844E-fs*10	VUS	ND	8.7	<4	4	-	N	N
79	M	59	p.L1088X	Likely Path	p.A1135Q-fs*13	VUS	ND	ND	<4	6	-	Y	H
165	M	15	p.R778W	Path	p.K35N-fs*6	VUS	21.8	25.1	<3	4	-	N	H
143	F	26	p.R778L	Path	p.L770L	VUS	ND	ND	<3	9	-	Y	H
69	F	16	p.T1029I	Path	c.3060+5G>C	VUS	2.8	ND	<3	8	-	Y	H
74	F	12	p.H1069Q	Path	IVS19–1C>G	VUS	ND	13.5	3	9	-	Y	N
188	F	8	p.M645R	Path	p.V997-fs	VUS	38.7	72.4	2.4	8	>250	N	H*
102	M	9	p.G1341D	Path	p.F1026F-fs	VUS	ND	ND	2	10	-	Y	N
134	F	10	p.M769H-fs	Path	p.K1028S-fs	VUS	ND	ND	2	10	-	Y	N
72	F	24	p.G710S	Path	c.3400delC	VUS	57.7	96.6	0.6	12	448	Y	B
68	M	11	c.1708–1g>c	Likely Path	c.2866–3c>g	VUS	22.4	37.7	NA	6	-	Y	H
88	F	8	p.M769H-fs	Path	p.D1460Y	VUS	20.3	39.3	low	6	-	N	H
Patients with Two VUS’s (n=7)
86	F	68	p.E332K	VUS	p.D1047V	VUS	51.7	79.3	27	6	26	N	B
3	M	18	p.G1335E	VUS	p.G1335E	VUS	ND	ND	<2	-	-	Y	N
9	F	15	p.G1341E	VUS	p.G1341E	VUS	2.2	ND	1.4	6	-	N	H
84	M	NA	p.I1336V	VUS	p.C709T	VUS	10.5	15.5	10	8	552	N	H
85	F	NA	p.I1336V	VUS	p.C709T	VUS	ND	6.3	13	7	900	N	H
186	M	NA	p.S932L	VUS	p.V1364V-fs	VUS	ND	ND	10	9	-	N	B
130	M	20	p.T59H-fs*19	VUS	p.H1247Q	VUS	23.6	27.2	<4	9	54	Y	N
Patients with Only One Variant Found (No 2nd variant detected) (n=18)
208	M	17	c.2299delC	VUS	unknown	-	ND	ND	<2	-	-	N	H
209	M	19	c.2299delC	VUS	unknown	-	ND	ND	<2	-	502	N	N
195	F	43	c.51+4a>t	Path	unknown	-	25.6	37.6	4	8	-	Y	N
196	F	28	p.A1049A-fs	VUS	unknown	-	2.2	9.1	3	7	-	Y	N
194	M	50	p.D765N	Path	unknown	-	20.4	21.4	<4	8	-	Y	N
197	M	22	p.G1176R	Path	unknown	-	3.6	7.3	3	5	-	N	H
199	M	17	p.H1069Q	Path	unknown	-	8.6	32.9	<10	5	-	N	N
201	M	14	p.H1069Q	Path	unknown	-	31.4	29.0	3.4	-	-	N	N
198	F	NA	p.H1069Q	Path	unknown	-	ND	5.0	12	6	-	N	H
200	M	14	p.H1069Q	Path	unknown	-	ND	6.7	13	4	-	Y	H
211	F	22	p.H1069Q	Path	unknown	-	ND	7.9	2	5	-	N	N
210	M	NA	p.L1305P	Path	unknown	-	ND	6.0	NA	3	-	-	-
202	F	16	p.M769H-fs	Path	unknown	-	ND	ND	13.8	6	525	Y	H
203	M	37	p.R1319X	Path	unknown	-	3.0	5.2	<10	9	1042	Y	B
204	M	12	p.R778L	Path	unknown	-	ND	9.5	<3.0	5	-	N	H
205	M	25	p.T1220M	Likely Path	unknown	-	67.7	77.0	<10	4	191	N	B
207	F	18	p.W779X	Path	unknown	-	38.0	65.6	15.3	6	258	N	H
206	M	45	p.W779X	Path	unknown	-	ND	ND	<^4	6	-	Y	H

KF ring: Y=Present, N=Not present

Presentation: H=Hepatic, N=Neurologic, A=Asymptomatic, B=Both Hepatic and Neurologic,

^*=Cirrhosis