Related gene-specific medical variations for Gene (Select 540) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362667	NM_000053.2(ATP7B):c.-362C>T	ATP7B, LOC130009838	Single nucleotide variant (5 prime UTR variant +1 more)	Wilson disease	GUncertain significance
Select item 3362264	NM_000053.4(ATP7B):c.3871del (p.Ala1291fs)	ATP7B (A1010fs +27 more)	Deletion (frameshift variant +1 more)	Wilson disease	GUncertain significance
Select item 3361468	NM_000053.4(ATP7B):c.1106C>T (p.Thr369Ile)	ATP7B (T337I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360197	NM_000053.4(ATP7B):c.1354A>C (p.Thr452Pro)	ATP7B (T309P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3244115	NC_000013.10:g.(?_52540123)_(52548920_?)del	ATP7B	Deletion	Wilson disease	GPathogenic
Select item 3244114	NC_000013.10:g.(?_52511949)_(52515321_?)del	ATP7B	Deletion	Wilson disease	GPathogenic
Select item 3244113	NC_000013.10:g.(?_52508892)_(52542763_?)del	ATP7B	Deletion	Wilson disease	GPathogenic
Select item 3244112	NC_000013.10:g.(?_52542560)_(52544905_?)del	ATP7B	Deletion	Wilson disease	GPathogenic
Select item 3244111	NC_000013.10:g.(?_52515197)_(52518447_?)del	ATP7B	Deletion	Wilson disease	GPathogenic
Select item 3244110	NC_000013.10:g.(?_52513167)_(52520634_?)del	ATP7B	Deletion	Wilson disease	GPathogenic
Select item 3244109	NC_000013.10:g.(?_52548051)_(52585933_?)del	ATP7B	Deletion	Wilson disease	GPathogenic
Select item 3244108	NC_000013.10:g.(?_52585403)_(52585933_?)del	ATP7B	Deletion	Wilson disease	GPathogenic
Select item 3244107	NC_000013.10:g.(?_52518407)_(52518976_?)del	ATP7B	Deletion	Wilson disease	GPathogenic
Select item 3240822	NM_000053.4(ATP7B):c.1211dup (p.Asn404fs)	ATP7B (N261fs +3 more)	Duplication (frameshift variant)	Wilson disease	GPathogenic
Select item 3240821	NM_000053.4(ATP7B):c.2448-1G>A	ATP7B	Single nucleotide variant (splice acceptor variant +1 more)	Wilson disease	GPathogenic
Select item 3240819	NM_000053.4(ATP7B):c.1707+5G>A	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GPathogenic
Select item 3240818	NM_000053.4(ATP7B):c.2047del (p.Val683fs)	ATP7B (V540fs +4 more)	Deletion (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 3240817	NM_000053.4(ATP7B):c.2415del (p.Val805_Val806insTer)	ATP7B	Deletion (frameshift variant +1 more)	Wilson disease	GPathogenic
Select item 3240816	NM_000053.4(ATP7B):c.2891_2894del (p.Thr964fs)	ATP7B (T534fs +19 more)	Microsatellite (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 3240815	NM_000053.4(ATP7B):c.3451del (p.Arg1151fs)	ATP7B (R1002fs +25 more)	Deletion (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 3240814	NM_000053.4(ATP7B):c.3278_3279delinsGCTGTA (p.Asp1093fs)	ATP7B (D1009fs +26 more)	Indel (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 3240813	NM_000053.4(ATP7B):c.1725dup (p.Ala576fs)	ATP7B (A433fs +4 more)	Duplication (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 3240811	NM_000053.4(ATP7B):c.571_575del (p.Leu191fs)	ATP7B (L159fs +1 more)	Deletion (frameshift variant)	Wilson disease	GPathogenic
Select item 3240808	NM_000053.4(ATP7B):c.4049T>C (p.Leu1350Pro)	ATP7B (L1069P +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GLikely pathogenic
Select item 3239707	NM_000053.4(ATP7B):c.364G>T (p.Glu122Ter)	ATP7B (E122* +1 more)	Single nucleotide variant (nonsense)	Wilson disease	GLikely pathogenic
Select item 3239706	NM_000053.4(ATP7B):c.3751A>T (p.Lys1251Ter)	ATP7B (K1024* +27 more)	Single nucleotide variant (nonsense +1 more)	Wilson disease	GLikely pathogenic
Select item 3239705	NM_000053.4(ATP7B):c.561T>A (p.Tyr187Ter)	ATP7B (Y155* +1 more)	Single nucleotide variant (nonsense)	Wilson disease	GLikely pathogenic
Select item 3068117	NM_000053.4(ATP7B):c.4319G>T (p.Arg1440Leu)	ATP7B (R1010L +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GLikely benign
Select item 3067976	NM_000053.4(ATP7B):c.4103T>C (p.Leu1368Pro)	ATP7B (L1087P +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GLikely pathogenic
Select item 3065415	NM_000053.4(ATP7B):c.2621C>G (p.Ala874Gly)	ATP7B (A444G +15 more)	Single nucleotide variant (missense variant)	Wilson disease	GPathogenic
Select item 3064956	NM_000053.4(ATP7B):c.2930C>A (p.Thr977Lys)	ATP7B (T547K +19 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 2690549	NM_000053.4(ATP7B):c.1870-1G>C	ATP7B	Single nucleotide variant (intron variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2688654	NM_000053.4(ATP7B):c.3692C>T (p.Ala1231Val)	ATP7B (A1004V +27 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 2688653	NM_000053.4(ATP7B):c.2128_2133del (p.Gly710_Gly711del)	ATP7B	Deletion (inframe_deletion +1 more)	Wilson disease	GUncertain significance
Select item 2688652	NM_000053.4(ATP7B):c.2327T>C (p.Leu776Pro)	ATP7B (L633P +9 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 2679838	NM_000053.4(ATP7B):c.2286dup (p.Phe763fs)	ATP7B (F620fs +9 more)	Duplication (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2679837	NM_000053.4(ATP7B):c.2659del (p.Ala887fs)	ATP7B (A776fs +15 more)	Deletion (frameshift variant)	Wilson disease	GPathogenic
Select item 2679836	NM_000053.4(ATP7B):c.1517_1518del (p.Ile506fs)	ATP7B (I363fs +3 more)	Deletion (frameshift variant +1 more)	Wilson disease	GPathogenic
Select item 2679835	NM_000053.4(ATP7B):c.1360dup (p.Thr454fs)	ATP7B (T311fs +3 more)	Duplication (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2679834	NM_000053.4(ATP7B):c.4198del (p.Val1400fs)	ATP7B (V1119fs +28 more)	Deletion (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 2679833	NM_000053.4(ATP7B):c.132del (p.Gly43_Tyr44insTer)	ATP7B	Deletion (nonsense)	Wilson disease	GLikely pathogenic
Select item 2679832	NM_000053.4(ATP7B):c.2497dup (p.Val833fs)	ATP7B (V617fs +14 more)	Duplication (frameshift variant +1 more)	Wilson disease	GPathogenic
Select item 2679831	NM_000053.4(ATP7B):c.1781_1797del (p.Tyr594fs)	ATP7B (Y451fs +4 more)	Deletion (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2679830	NM_000053.4(ATP7B):c.52-2A>G	ATP7B	Single nucleotide variant (splice acceptor variant)	Wilson disease	GLikely pathogenic
Select item 2679829	NM_000053.4(ATP7B):c.71del (p.Leu24fs)	ATP7B (L24fs)	Deletion (frameshift variant +1 more)	Wilson disease	GUncertain significance
Select item 2679828	NM_000053.4(ATP7B):c.3545dup (p.Ala1183fs)	ATP7B (A1021fs +25 more)	Duplication (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2679827	NM_000053.4(ATP7B):c.2355+1G>A	ATP7B	Single nucleotide variant (intron variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2679826	NM_000053.4(ATP7B):c.839del (p.Gly280fs)	ATP7B (G248fs +1 more)	Deletion (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2679825	NM_000053.4(ATP7B):c.4007T>C (p.Ile1336Thr)	ATP7B (I1055T +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GLikely pathogenic
Select item 2679823	NM_000053.4(ATP7B):c.3704G>A (p.Gly1235Asp)	ATP7B (G1008D +27 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2679822	NM_000053.4(ATP7B):c.3543_3551delinsTCTGC (p.Val1182fs)	ATP7B (V1020fs +25 more)	Indel (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2679821	NM_000053.4(ATP7B):c.1675dup (p.Tyr559fs)	ATP7B (Y416fs +4 more)	Duplication (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2679820	NM_000053.4(ATP7B):c.4084T>G (p.Ser1362Ala)	ATP7B (S1081A +28 more)	Single nucleotide variant (missense variant)	Wilson disease	GLikely pathogenic
Select item 2679819	NM_000053.4(ATP7B):c.2152del (p.Ala718fs)	ATP7B (A575fs +6 more)	Deletion (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2679818	NM_000053.4(ATP7B):c.4124+1G>T	ATP7B	Single nucleotide variant (splice donor variant)	Wilson disease	GLikely pathogenic
Select item 2679817	NM_000053.4(ATP7B):c.3772_3775dup (p.Gly1259fs)	ATP7B (G1032fs +27 more)	Duplication (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2679816	NM_000053.4(ATP7B):c.2307G>T (p.Met769Ile)	ATP7B (M626I +9 more)	Single nucleotide variant (intron variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2679815	NM_000053.4(ATP7B):c.2241_2242insAG (p.Leu748fs)	ATP7B (L605fs +6 more)	Insertion (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2679813	NM_000053.4(ATP7B):c.306T>A (p.Tyr102Ter)	ATP7B (Y102* +1 more)	Single nucleotide variant (nonsense)	Wilson disease	GLikely pathogenic
Select item 2679812	NM_000053.4(ATP7B):c.1803del (p.Ser602fs)	ATP7B (S459fs +4 more)	Deletion (frameshift variant +1 more)	Wilson disease	GPathogenic
Select item 2679810	NM_000053.4(ATP7B):c.2447+5G>T	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GLikely pathogenic
Select item 2679808	NM_000053.4(ATP7B):c.3200G>A (p.Ser1067Asn)	ATP7B (S1002N +25 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2679807	NM_000053.4(ATP7B):c.1883_1884del (p.His628fs)	ATP7B (H485fs +4 more)	Deletion (frameshift variant +1 more)	Wilson disease	GPathogenic
Select item 2679805	NM_000053.4(ATP7B):c.2976del (p.Thr993fs)	ATP7B (T563fs +19 more)	Deletion (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2679804	NM_000053.4(ATP7B):c.3044T>C (p.Leu1015Pro)	ATP7B (L1004P +19 more)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2679802	NM_000053.4(ATP7B):c.3524_3528del (p.Lys1175fs)	ATP7B (K1013fs +25 more)	Deletion (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2679799	NM_000053.4(ATP7B):c.881del (p.Asn294fs)	ATP7B (N262fs +1 more)	Deletion (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2679798	NM_000053.4(ATP7B):c.3258_3259del (p.Glu1086fs)	ATP7B (E1002fs +26 more)	Microsatellite (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 2679797	NM_000053.4(ATP7B):c.3562C>T (p.Leu1188Phe)	ATP7B (L1024F +27 more)	Single nucleotide variant (missense variant)	Wilson disease	GLikely pathogenic
Select item 2679796	NM_000053.4(ATP7B):c.3437_3438del (p.Val1146fs)	ATP7B (V1003fs +25 more)	Microsatellite (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2679793	NM_000053.4(ATP7B):c.678del (p.Leu227fs)	ATP7B (L195fs +1 more)	Deletion (frameshift variant)	Wilson disease	GPathogenic
Select item 2679792	NM_000053.4(ATP7B):c.1954A>T (p.Lys652Ter)	ATP7B (K509* +4 more)	Single nucleotide variant (nonsense +1 more)	Wilson disease	GLikely pathogenic
Select item 2679790	NM_000053.4(ATP7B):c.51+2T>G	ATP7B	Single nucleotide variant (splice donor variant)	Wilson disease	GPathogenic
Select item 2679788	NM_000053.4(ATP7B):c.1155_1156del (p.Val387fs)	ATP7B (V244fs +3 more)	Deletion (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 2442034	NM_000053.4(ATP7B):c.3665del (p.Asp1222fs)	ATP7B (D1015fs +4 more)	Deletion (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 2439395	NM_000053.4(ATP7B):c.2543G>A (p.Gly848Asp)	ATP7B (G632D +14 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 2436103	NM_000053.4(ATP7B):c.2152delinsTCC (p.Ala718fs)	ATP7B (A607fs +2 more)	Indel (frameshift variant +1 more)	Wilson disease	GLikely pathogenic
Select item 2436002	NM_000053.4(ATP7B):c.3190dup (p.Glu1064fs)	ATP7B (E1064fs +4 more)	Duplication (frameshift variant)	Wilson disease	GLikely pathogenic
Select item 2435913	NM_000053.4(ATP7B):c.3458G>A (p.Trp1153Ter)	ATP7B (W1004* +25 more)	Single nucleotide variant (nonsense)	Wilson disease	GLikely pathogenic
Select item 2428657	NM_000053.4(ATP7B):c.1543+4A>G	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GUncertain significance
Select item 2113119	NC_000013.11:g.52011773A>G	ATP7B, LOC130009838	Single nucleotide variant (5 prime UTR variant +1 more)	Wilson disease	GUncertain significance
Select item 1986960	NC_000013.11:g.52011769G>C	ATP7B, LOC130009838	Single nucleotide variant (5 prime UTR variant +1 more)	Wilson disease	GUncertain significance
Select item 1897551	NC_000013.11:g.52011762C>T	ATP7B, LOC130009838	Single nucleotide variant (5 prime UTR variant +1 more)	Wilson disease	GUncertain significance
Select item 1679504	NM_000053.4(ATP7B):c.3452G>C (p.Arg1151Pro)	ATP7B (R1040P +4 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 1679503	NM_000053.4(ATP7B):c.2865+6T>G	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GUncertain significance
Select item 1676375	NM_000053.4(ATP7B):c.2576-30A>G	ATP7B	Single nucleotide variant	not provided	GLikely benign
Select item 1370342	NC_000013.11:g.52011797C>T	ATP7B, LOC130009838	Single nucleotide variant (genic upstream transcript variant)	Wilson disease	GUncertain significance
Select item 1323954	NM_000053.4(ATP7B):c.3805dup (p.Val1269fs)	ATP7B (V1062fs +4 more)	Duplication (frameshift variant)	Wilson disease	GPathogenic
Select item 1323908	NM_000053.4(ATP7B):c.3334_3335del (p.Ile1112fs)	ATP7B (I1001fs +4 more)	Deletion (frameshift variant)	Wilson disease	GPathogenic
Select item 1073826	NC_000013.10:g.(?_52548990)_52552030del	ATP7B	Deletion	Wilson disease	GPathogenic
Select item 994145	NM_000053.4(ATP7B):c.51+31G>A	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GLikely benign
Select item 991762	NM_000053.4(ATP7B):c.-441C>G	ATP7B, LOC130009838	Single nucleotide variant	Wilson disease	GUncertain significance
Select item 991761	NM_000053.4(ATP7B):c.-389A>G	ATP7B, LOC130009838	Single nucleotide variant	Wilson disease	GUncertain significance
Select item 991759	NM_000053.4(ATP7B):c.78C>G (p.Thr26=)	ATP7B	Single nucleotide variant (synonymous variant)	Wilson disease	GUncertain significance
Select item 991758	NM_000053.4(ATP7B):c.113C>T (p.Ala38Val)	ATP7B (A38V)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 991753	NM_000053.4(ATP7B):c.950C>A (p.Ala317Glu)	ATP7B (A317E)	Single nucleotide variant (missense variant +1 more)	Wilson disease	GUncertain significance
Select item 991749	NM_000053.4(ATP7B):c.1402G>A (p.Ala468Thr)	ATP7B (A357T +1 more)	Single nucleotide variant (missense variant)	Wilson disease	GUncertain significance
Select item 991426	NM_000053.4(ATP7B):c.2121+5A>G	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GUncertain significance
Select item 991425	NM_000053.4(ATP7B):c.2121+6T>G	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GUncertain significance
Select item 991420	NM_000053.4(ATP7B):c.2575+4A>G	ATP7B	Single nucleotide variant (intron variant)	Wilson disease	GUncertain significance

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