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	ABCA7, ABHD17A +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	STK11, TCF3 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	LOC130062964, LOC130062965 +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	LOC130062905, LOC130062906 +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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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 2464321	NM_138813.4(ATP8B3):c.3064G>A (p.Gly1022Ser)	ATP8B3 (G985S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067219	NM_138813.4(ATP8B3):c.3056G>A (p.Gly1019Asp)	ATP8B3, LOC130062987 (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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2318088	NM_138813.4(ATP8B3):c.2522C>A (p.Ala841Glu)	ATP8B3 (A804E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595614	NM_138813.4(ATP8B3):c.2512C>T (p.Arg838Cys)	ATP8B3 (R801C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2557322	NM_138813.4(ATP8B3):c.2379C>T (p.Ser793=)	ATP8B3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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 2358059	NM_138813.4(ATP8B3):c.2325C>G (p.Phe775Leu)	ATP8B3 (F775L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 739580	NM_138813.4(ATP8B3):c.2302+9C>T	ATP8B3	Single nucleotide variant (intron variant)	not provided	GBenign
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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GLikely benign
Select item 2285218	NM_138813.4(ATP8B3):c.1994T>G (p.Val665Gly)	ATP8B3, LOC121627845 (V618G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294500	NM_138813.4(ATP8B3):c.1990A>G (p.Thr664Ala)	ATP8B3, LOC121627845 (T664A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373821	NM_138813.4(ATP8B3):c.1960G>A (p.Ala654Thr)	ATP8B3, LOC121627845 (A607T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2488015	NM_138813.4(ATP8B3):c.1951C>G (p.Pro651Ala)	ATP8B3, LOC121627845 (P604A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 708843	NM_138813.4(ATP8B3):c.1945C>T (p.Arg649Ter)	ATP8B3, LOC121627845 (R602* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 2409684	NM_138813.4(ATP8B3):c.1921C>T (p.Arg641Cys)	ATP8B3, LOC121627845 (R641C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284520	NM_138813.4(ATP8B3):c.1913A>G (p.Asn638Ser)	ATP8B3, LOC121627845 (N638S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616688	NM_138813.4(ATP8B3):c.1837C>T (p.Arg613Cys)	ATP8B3, LOC121627845 (R566C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394558	NM_138813.4(ATP8B3):c.1748G>A (p.Arg583His)	ATP8B3 (R536H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520396	NM_138813.4(ATP8B3):c.1716C>G (p.His572Gln)	ATP8B3 (H572Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270726	NM_138813.4(ATP8B3):c.1696C>T (p.Arg566Cys)	ATP8B3 (R519C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521711	NM_138813.4(ATP8B3):c.1657G>A (p.Val553Met)	ATP8B3 (V553M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591582	NM_138813.4(ATP8B3):c.1640C>T (p.Ala547Val)	ATP8B3 (A500V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265050	NM_138813.4(ATP8B3):c.1627C>T (p.Leu543Phe)	ATP8B3 (L496F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 781877	NM_138813.4(ATP8B3):c.1585-2A>G	ATP8B3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely benign
Select item 2570565	NM_138813.4(ATP8B3):c.1577G>A (p.Arg526Gln)	ATP8B3 (R479Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289827	NM_138813.4(ATP8B3):c.1560T>A (p.Asp520Glu)	ATP8B3 (D520E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597578	NM_138813.4(ATP8B3):c.1546G>A (p.Val516Ile)	ATP8B3 (V469I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2393126	NM_138813.4(ATP8B3):c.1543C>T (p.Arg515Cys)	ATP8B3 (R468C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378619	NM_138813.4(ATP8B3):c.1453C>T (p.His485Tyr)	ATP8B3 (H438Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208851	NM_138813.4(ATP8B3):c.1452C>A (p.Asp484Glu)	ATP8B3 (D484E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 746734	NM_138813.4(ATP8B3):c.1416C>T (p.Asp472=)	ATP8B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2379612	NM_138813.4(ATP8B3):c.1312A>G (p.Ser438Gly)	ATP8B3 (S391G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369308	NM_138813.4(ATP8B3):c.1270G>A (p.Ala424Thr)	ATP8B3 (A377T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524572	NM_138813.4(ATP8B3):c.1154T>C (p.Ile385Thr)	ATP8B3 (I338T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2722420	NM_138813.4(ATP8B3):c.1064-1G>A	ATP8B3 (G308S)	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely benign

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