ClinVar for Gene (Select 148229) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 203

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330134	NM_138813.4(ATP8B3):c.1597C>G (p.Leu533Val)	ATP8B3 (L486V +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 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 3330115	NM_138813.4(ATP8B3):c.1697G>A (p.Arg566His)	ATP8B3 (R566H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330108	NM_138813.4(ATP8B3):c.350A>T (p.Asn117Ile)	ATP8B3 (N117I +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 3330095	NM_138813.4(ATP8B3):c.530T>C (p.Ile177Thr)	ATP8B3 (I124T +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 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 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 3330072	NM_138813.4(ATP8B3):c.745G>A (p.Val249Ile)	ATP8B3 (V196I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330067	NM_138813.4(ATP8B3):c.1397T>C (p.Met466Thr)	ATP8B3 (M466T +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 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 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 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 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 3330039	NM_138813.4(ATP8B3):c.154G>C (p.Ala52Pro)	ATP8B3 (A52P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3330038	NM_138813.4(ATP8B3):c.923C>T (p.Ala308Val)	ATP8B3 (A308V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132028	NM_138813.4(ATP8B3):c.930C>A (p.Asn310Lys)	ATP8B3 (N257K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132026	NM_138813.4(ATP8B3):c.928A>G (p.Asn310Asp)	ATP8B3 (N310D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132025	NM_138813.4(ATP8B3):c.914C>T (p.Thr305Met)	ATP8B3 (T305M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132024	NM_138813.4(ATP8B3):c.862C>T (p.His288Tyr)	ATP8B3 (H235Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132023	NM_138813.4(ATP8B3):c.730C>T (p.Arg244Cys)	ATP8B3 (R191C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132022	NM_138813.4(ATP8B3):c.645C>A (p.Asn215Lys)	ATP8B3 (N162K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132021	NM_138813.4(ATP8B3):c.479T>G (p.Val160Gly)	ATP8B3 (V160G +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 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 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 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 3132012	NM_138813.4(ATP8B3):c.317C>T (p.Thr106Ile)	ATP8B3 (T106I +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 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 3132009	NM_138813.4(ATP8B3):c.29G>A (p.Arg10Lys)	ATP8B3 (R10K)	Single nucleotide variant (missense variant +2 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 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 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 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 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 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 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 3131999	NM_138813.4(ATP8B3):c.1945C>G (p.Arg649Gly)	ATP8B3, LOC121627845 (R602G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131998	NM_138813.4(ATP8B3):c.1880G>A (p.Arg627Gln)	ATP8B3, LOC121627845 (R580Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131997	NM_138813.4(ATP8B3):c.1810C>T (p.Arg604Trp)	ATP8B3, LOC121627845 (R557W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131995	NM_138813.4(ATP8B3):c.1618G>A (p.Gly540Arg)	ATP8B3 (G540R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131994	NM_138813.4(ATP8B3):c.1571C>T (p.Thr524Met)	ATP8B3 (T477M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131993	NM_138813.4(ATP8B3):c.130C>T (p.Arg44Cys)	ATP8B3 (R44C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3131992	NM_138813.4(ATP8B3):c.1259G>A (p.Ser420Asn)	ATP8B3 (S373N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131991	NM_138813.4(ATP8B3):c.109G>A (p.Gly37Ser)	ATP8B3 (G37S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3131990	NM_138813.4(ATP8B3):c.1097A>C (p.Lys366Thr)	ATP8B3 (K366T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131989	NM_138813.4(ATP8B3):c.1061C>T (p.Ala354Val)	ATP8B3 (A301V +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)	ATP8B3, LOC130062987 (G1019D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3062395	GRCh37/hg19 19p13.3(chr19:1648089-2302433)x3	LINGO3, MIR1909 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062376	GRCh37/hg19 19p13.3(chr19:1773489-2186237)x3	ABHD17A, ADAT3 +13 more	Copy number gain	not specified	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
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2648947	NM_138813.4(ATP8B3):c.708C>T (p.Cys236=)	ATP8B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2648945	NM_138813.4(ATP8B3):c.3249C>T (p.Ile1083=)	ATP8B3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2616688	NM_138813.4(ATP8B3):c.1837C>T (p.Arg613Cys)	ATP8B3, LOC121627845 (R566C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615666	NM_138813.4(ATP8B3):c.131G>A (p.Arg44His)	ATP8B3 (R44H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	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)	not specified	GLikely benign
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 2591582	NM_138813.4(ATP8B3):c.1640C>T (p.Ala547Val)	ATP8B3 (A500V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591013	NM_138813.4(ATP8B3):c.1013G>A (p.Gly338Asp)	ATP8B3 (G338D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570565	NM_138813.4(ATP8B3):c.1577G>A (p.Arg526Gln)	ATP8B3 (R479Q +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 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 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 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 2532826	NM_138813.4(ATP8B3):c.364G>C (p.Glu122Gln)	ATP8B3 (E122Q +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 2527127	NM_138813.4(ATP8B3):c.914C>G (p.Thr305Arg)	ATP8B3 (T252R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2524572	NM_138813.4(ATP8B3):c.1154T>C (p.Ile385Thr)	ATP8B3 (I338T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523782	NM_138813.4(ATP8B3):c.586C>T (p.Arg196Cys)	ATP8B3 (R196C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	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 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 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 2488015	NM_138813.4(ATP8B3):c.1951C>G (p.Pro651Ala)	ATP8B3, LOC121627845 (P604A +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 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 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 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 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 2466444	NM_138813.4(ATP8B3):c.587G>A (p.Arg196His)	ATP8B3 (R143H +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 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 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2427064	NC_000019.9:g.(?_1456055)_(2456931_?)dup	CSNK1G2, PEAK3 +35 more	Duplication	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	NDUFS7, ONECUT3 +61 more	Duplication	Cyclical neutropenia +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2411414	NM_138813.4(ATP8B3):c.855G>A (p.Met285Ile)	ATP8B3 (M232I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

<< First< Prev

Page of 3