ATP8B3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 60069	GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1	ABHD17A, ADAT3 +108 more	Copy number loss	See cases	GPathogenic
Select item 157427	Single allele	ATP8B3, LOC130062987	Deletion	Preeclampsia	Gnot provided
Select item 783072	NM_138813.4(ATP8B3):c.3853C>T (p.Leu1285=)	ATP8B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2525330	NM_138813.4(ATP8B3):c.3845C>G (p.Ser1282Cys)	ATP8B3 (S1282C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330127	NM_138813.4(ATP8B3):c.3839T>C (p.Ile1280Thr)	ATP8B3 (I1243T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515577	NM_138813.4(ATP8B3):c.3805A>G (p.Ile1269Val)	ATP8B3 (I1269V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267893	NM_138813.4(ATP8B3):c.3787C>G (p.Leu1263Val)	ATP8B3 (L1226V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474858	NM_138813.4(ATP8B3):c.3760T>C (p.Phe1254Leu)	ATP8B3 (F1217L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381267	NM_138813.4(ATP8B3):c.3751A>G (p.Ser1251Gly)	ATP8B3 (S1214G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301227	NM_138813.4(ATP8B3):c.3734C>G (p.Ser1245Cys)	ATP8B3 (S1208C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716789	NM_138813.4(ATP8B3):c.3688GAG[1] (p.Glu1231del)	ATP8B3 (E1194del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2389256	NM_138813.4(ATP8B3):c.3688G>A (p.Glu1230Lys)	ATP8B3 (E1193K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545875	NM_138813.4(ATP8B3):c.3643A>C (p.Lys1215Gln)	ATP8B3 (K1178Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132019	NM_138813.4(ATP8B3):c.3631T>C (p.Phe1211Leu)	ATP8B3 (F1174L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330090	NM_138813.4(ATP8B3):c.3623G>A (p.Arg1208Gln)	ATP8B3 (R1208Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132017	NM_138813.4(ATP8B3):c.3565A>G (p.Ile1189Val)	ATP8B3 (I1152V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132016	NM_138813.4(ATP8B3):c.3559C>T (p.Pro1187Ser)	ATP8B3 (P1150S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400813	NM_138813.4(ATP8B3):c.3535G>A (p.Ala1179Thr)	ATP8B3 (A1179T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330041	NM_138813.4(ATP8B3):c.3524C>T (p.Pro1175Leu)	ATP8B3 (P1175L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392628	NM_138813.4(ATP8B3):c.3506T>C (p.Val1169Ala)	ATP8B3 (V1169A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132015	NM_138813.4(ATP8B3):c.3476C>T (p.Thr1159Ile)	ATP8B3 (T1122I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550624	NM_138813.4(ATP8B3):c.3436A>T (p.Thr1146Ser)	ATP8B3 (T1109S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2466849	NM_138813.4(ATP8B3):c.3434C>T (p.Ala1145Val)	ATP8B3 (A1108V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2488826	NM_138813.4(ATP8B3):c.3389T>C (p.Met1130Thr)	ATP8B3 (M1093T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310582	NM_138813.4(ATP8B3):c.3388A>G (p.Met1130Val)	ATP8B3 (M1130V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132014	NM_138813.4(ATP8B3):c.3379T>C (p.Ser1127Pro)	ATP8B3 (S1127P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372679	NM_138813.4(ATP8B3):c.3322G>A (p.Ala1108Thr)	ATP8B3 (A1108T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328138	NM_138813.4(ATP8B3):c.3305G>A (p.Arg1102His)	ATP8B3 (R1102H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373190	NM_138813.4(ATP8B3):c.3286A>C (p.Met1096Leu)	ATP8B3 (M1059L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358715	NM_138813.4(ATP8B3):c.3271C>G (p.Leu1091Val)	ATP8B3 (L1091V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648945	NM_138813.4(ATP8B3):c.3249C>T (p.Ile1083=)	ATP8B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2331956	NM_138813.4(ATP8B3):c.3238G>A (p.Val1080Ile)	ATP8B3 (V1043I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620911	NM_138813.4(ATP8B3):c.3235T>G (p.Phe1079Val)	ATP8B3 (F1042V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343185	NM_138813.4(ATP8B3):c.3197T>C (p.Val1066Ala)	ATP8B3 (V1029A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780498	NM_138813.4(ATP8B3):c.3195C>T (p.Tyr1065=)	ATP8B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2212728	NM_138813.4(ATP8B3):c.3163G>A (p.Ala1055Thr)	ATP8B3 (A1055T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132011	NM_138813.4(ATP8B3):c.3157G>A (p.Val1053Met)	ATP8B3 (V1016M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330100	NM_138813.4(ATP8B3):c.3142C>A (p.Leu1048Ile)	ATP8B3 (L1011I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132010	NM_138813.4(ATP8B3):c.3142C>T (p.Leu1048Phe)	ATP8B3 (L1011F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 444442	NM_138813.4(ATP8B3):c.3088T>C (p.Phe1030Leu)	ATP8B3 (F1030L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3330082	NM_138813.4(ATP8B3):c.3070C>T (p.Pro1024Ser)	ATP8B3 (P1024S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464321	NM_138813.4(ATP8B3):c.3064G>A (p.Gly1022Ser)	ATP8B3 (G985S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067219	NM_138813.4(ATP8B3):c.3056G>A (p.Gly1019Asp)	LOC130062987, ATP8B3 (G1019D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2373614	NM_138813.4(ATP8B3):c.3025A>C (p.Met1009Leu)	ATP8B3, LOC130062987 (M1009L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330120	NM_138813.4(ATP8B3):c.2996A>G (p.Tyr999Cys)	ATP8B3 (Y962C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376175	NM_138813.4(ATP8B3):c.2990T>C (p.Leu997Pro)	ATP8B3 (L960P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330042	NM_138813.4(ATP8B3):c.2950G>A (p.Val984Met)	ATP8B3 (V984M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465654	NM_138813.4(ATP8B3):c.2906A>C (p.Asp969Ala)	ATP8B3 (D932A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 747604	NM_138813.4(ATP8B3):c.2887_2888dup (p.Gln963fs)	ATP8B3 (Q926fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely benign
Select item 2397975	NM_138813.4(ATP8B3):c.2882G>A (p.Gly961Asp)	ATP8B3 (G961D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781876	NM_138813.4(ATP8B3):c.2880G>A (p.Glu960=)	ATP8B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2526515	NM_138813.4(ATP8B3):c.2844G>C (p.Lys948Asn)	ATP8B3 (K911N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132008	NM_138813.4(ATP8B3):c.2752C>G (p.Gln918Glu)	ATP8B3 (Q918E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364243	NM_138813.4(ATP8B3):c.2738G>A (p.Arg913His)	ATP8B3 (R913H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217470	NM_138813.4(ATP8B3):c.2701G>C (p.Asp901His)	ATP8B3 (D864H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471377	NM_138813.4(ATP8B3):c.2674G>A (p.Glu892Lys)	ATP8B3 (E855K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132007	NM_138813.4(ATP8B3):c.2666G>A (p.Arg889His)	ATP8B3 (R852H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132006	NM_138813.4(ATP8B3):c.2660C>T (p.Ala887Val)	ATP8B3 (A887V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327899	NM_138813.4(ATP8B3):c.2639C>G (p.Pro880Arg)	ATP8B3 (P843R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403378	NM_138813.4(ATP8B3):c.2635G>C (p.Ala879Pro)	ATP8B3 (A879P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330043	NM_138813.4(ATP8B3):c.2632G>T (p.Ala878Ser)	ATP8B3 (A841S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235755	NM_138813.4(ATP8B3):c.2611C>T (p.Arg871Trp)	ATP8B3 (R834W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318088	NM_138813.4(ATP8B3):c.2522C>A (p.Ala841Glu)	ATP8B3 (A804E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330077	NM_138813.4(ATP8B3):c.2515G>C (p.Ala839Pro)	ATP8B3 (A839P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595614	NM_138813.4(ATP8B3):c.2512C>T (p.Arg838Cys)	ATP8B3 (R801C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132005	NM_138813.4(ATP8B3):c.2482A>G (p.Lys828Glu)	ATP8B3 (K828E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488298	NM_138813.4(ATP8B3):c.2432C>T (p.Ser811Phe)	ATP8B3 (S774F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2473469	NM_138813.4(ATP8B3):c.2425A>G (p.Arg809Gly)	ATP8B3 (R809G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557322	NM_138813.4(ATP8B3):c.2379C>T (p.Ser793=)	ATP8B3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2544103	NM_138813.4(ATP8B3):c.2362G>C (p.Glu788Gln)	ATP8B3 (E751Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 717965	NM_138813.4(ATP8B3):c.2323_2327del (p.Phe775fs)	ATP8B3 (F738fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 3132004	NM_138813.4(ATP8B3):c.2326G>A (p.Ala776Thr)	ATP8B3 (A739T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358059	NM_138813.4(ATP8B3):c.2325C>G (p.Phe775Leu)	ATP8B3 (F775L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 739580	NM_138813.4(ATP8B3):c.2302+9C>T	ATP8B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3132003	NM_138813.4(ATP8B3):c.2252G>A (p.Cys751Tyr)	ATP8B3 (C714Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 745620	NM_138813.4(ATP8B3):c.2214G>A (p.Glu738=)	ATP8B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2253897	NM_138813.4(ATP8B3):c.2212G>A (p.Glu738Lys)	ATP8B3 (E701K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132002	NM_138813.4(ATP8B3):c.2207C>A (p.Ala736Asp)	ATP8B3 (A699D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648946	NM_138813.4(ATP8B3):c.2190+18G>A	ATP8B3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 425153	NM_138813.4(ATP8B3):c.2171G>A (p.Arg724Gln)	ATP8B3 (R677Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 787601	NM_138813.4(ATP8B3):c.2169C>T (p.Asn723=)	ATP8B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2258847	NM_138813.4(ATP8B3):c.2138G>A (p.Arg713His)	ATP8B3 (R666H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132000	NM_138813.4(ATP8B3):c.2116A>G (p.Ile706Val)	ATP8B3 (I659V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330052	NM_138813.4(ATP8B3):c.2078G>A (p.Arg693Gln)	ATP8B3 (R646Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479959	NM_138813.4(ATP8B3):c.2077C>T (p.Arg693Trp)	ATP8B3 (R646W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528829	NM_138813.4(ATP8B3):c.2023G>T (p.Ala675Ser)	ATP8B3, LOC121627845 (A675S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330059	NM_138813.4(ATP8B3):c.2019G>C (p.Arg673Ser)	ATP8B3, LOC121627845 (R673S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409242	NM_138813.4(ATP8B3):c.2006G>A (p.Arg669His)	ATP8B3, LOC121627845 (R669H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343184	NM_138813.4(ATP8B3):c.2002G>C (p.Glu668Gln)	ATP8B3, LOC121627845 (E621Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

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