ClinVar for Gene (Select 51761) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 507

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365662	NM_016529.6(ATP8A2):c.2470A>C (p.Asn824His)	ATP8A2 (N784H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363654	NM_016529.6(ATP8A2):c.2479G>A (p.Gly827Arg)	ATP8A2 (G787R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339979	NM_016529.6(ATP8A2):c.3316dup (p.Glu1106fs)	ATP8A2 (E1041fs +2 more)	Duplication (frameshift variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GPathogenic
Select item 3338257	NM_016529.6(ATP8A2):c.649C>T (p.Gln217Ter)	ATP8A2 (Q177* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GPathogenic
Select item 3329884	NM_016529.6(ATP8A2):c.1975C>T (p.Arg659Trp)	ATP8A2 (R619W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329874	NM_016529.6(ATP8A2):c.668C>T (p.Ala223Val)	ATP8A2 (A183V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329863	NM_016529.6(ATP8A2):c.2178G>T (p.Met726Ile)	ATP8A2 (M726I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329852	NM_016529.6(ATP8A2):c.3550A>G (p.Lys1184Glu)	ATP8A2 (K1119E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329841	NM_016529.6(ATP8A2):c.3424C>G (p.Pro1142Ala)	ATP8A2 (P1077A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329822	NM_016529.6(ATP8A2):c.1400G>A (p.Arg467Gln)	ATP8A2 (R467Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329813	NM_016529.6(ATP8A2):c.2864G>T (p.Gly955Val)	ATP8A2 (G955V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329781	NM_016529.6(ATP8A2):c.683G>A (p.Arg228His)	ATP8A2 (R228H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251779	NM_016529.6(ATP8A2):c.1287G>T (p.Lys429Asn)	ATP8A2 (K389N +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GLikely pathogenic
Select item 3244221	NC_000013.10:g.(?_26043095)_(26273503_?)del	ATP8A2	Deletion	not provided	GPathogenic
Select item 3242096	NM_016529.6(ATP8A2):c.780-1G>T	ATP8A2	Single nucleotide variant (splice acceptor variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GLikely pathogenic
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 3131967	NM_016529.6(ATP8A2):c.838C>G (p.Gln280Glu)	ATP8A2 (Q240E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131966	NM_016529.6(ATP8A2):c.679A>G (p.Thr227Ala)	ATP8A2 (T227A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131965	NM_016529.6(ATP8A2):c.397A>C (p.Ile133Leu)	ATP8A2 (I93L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131964	NM_016529.6(ATP8A2):c.2651A>G (p.Tyr884Cys)	ATP8A2 (Y844C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131962	NM_016529.6(ATP8A2):c.2188C>G (p.Leu730Val)	ATP8A2 (L690V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131961	NM_016529.6(ATP8A2):c.173T>C (p.Ile58Thr)	ATP8A2 (I18T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131959	NM_016529.6(ATP8A2):c.1115A>G (p.Asn372Ser)	ATP8A2 (N332S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131958	NM_016529.6(ATP8A2):c.1064C>T (p.Thr355Ile)	ATP8A2 (T355I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067449	NM_016529.6(ATP8A2):c.3423G>A (p.Thr1141=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065802	NM_016529.6(ATP8A2):c.3334C>T (p.Arg1112Ter)	ATP8A2 (R1112* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GLikely pathogenic
Select item 3064367	NM_016529.6(ATP8A2):c.1669C>T (p.Gln557Ter)	ATP8A2 (Q517* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 3063305	GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3	AMER2, ATP12A +33 more	Copy number gain	not specified	GUncertain significance
Select item 3053355	NM_016529.6(ATP8A2):c.1713-10A>G	ATP8A2	Single nucleotide variant (intron variant)	ATP8A2-related disorder	GLikely benign
Select item 3052348	NM_016529.6(ATP8A2):c.2384+4_2384+7del	ATP8A2	Deletion (intron variant)	ATP8A2-related disorder	GLikely benign
Select item 3042501	NM_016529.6(ATP8A2):c.3498C>T (p.His1166=)	ATP8A2	Single nucleotide variant (synonymous variant)	ATP8A2-related disorder	GLikely benign
Select item 3023991	NM_016529.6(ATP8A2):c.2361G>A (p.Ser787=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022852	NM_016529.6(ATP8A2):c.2212-9T>C	ATP8A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016608	NM_016529.6(ATP8A2):c.1361C>T (p.Pro454Leu)	ATP8A2 (P414L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011977	NM_016529.6(ATP8A2):c.2988C>T (p.Asp996=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002914	NM_016529.6(ATP8A2):c.222-14C>A	ATP8A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991546	NM_016529.6(ATP8A2):c.2679+13A>T	ATP8A2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2980511	NM_016529.6(ATP8A2):c.1353-14C>T	ATP8A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967026	NM_016529.6(ATP8A2):c.2569-20T>C	ATP8A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964907	NM_016529.6(ATP8A2):c.2147-20T>C	ATP8A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964474	NM_016529.6(ATP8A2):c.780-15_780-13del	ATP8A2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2963528	NM_016529.6(ATP8A2):c.1782+18G>A	ATP8A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959044	NM_016529.6(ATP8A2):c.459A>G (p.Lys153=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957464	NM_016529.6(ATP8A2):c.3339C>A (p.Val1113=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913732	NM_016529.6(ATP8A2):c.507+8C>T	ATP8A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903578	NM_016529.6(ATP8A2):c.1185+7A>G	ATP8A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896913	NM_016529.6(ATP8A2):c.117T>C (p.Asp39=)	ATP8A2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2878454	NM_016529.6(ATP8A2):c.3052T>C (p.Leu1018=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869198	NM_016529.6(ATP8A2):c.2235G>A (p.Gln745=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861016	NM_016529.6(ATP8A2):c.2946T>C (p.Ala982=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833294	NM_016529.6(ATP8A2):c.3075+1G>A	ATP8A2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2829949	NM_016529.6(ATP8A2):c.177C>T (p.Tyr59=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808692	NM_016529.6(ATP8A2):c.756A>G (p.Gly252=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783056	NM_016529.6(ATP8A2):c.3469+15C>G	ATP8A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783055	NM_016529.6(ATP8A2):c.3469+14_3469+15insT	ATP8A2	Insertion (intron variant)	not provided	GLikely benign
Select item 2782400	NM_016529.6(ATP8A2):c.2569-8T>C	ATP8A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780231	NM_016529.6(ATP8A2):c.3469+16G>A	ATP8A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779304	NM_016529.6(ATP8A2):c.69G>C (p.Ser23=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776121	NM_016529.6(ATP8A2):c.2295T>C (p.Asp765=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764494	NM_016529.6(ATP8A2):c.1128C>T (p.Ile376=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764403	NM_016529.6(ATP8A2):c.852C>T (p.Gly284=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755630	NM_016529.6(ATP8A2):c.1083C>T (p.Tyr361=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721753	NM_016529.6(ATP8A2):c.905C>A (p.Ala302Glu)	ATP8A2 (A262E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718784	NM_016529.6(ATP8A2):c.2772G>A (p.Pro924=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715755	NM_016529.6(ATP8A2):c.213C>T (p.Asn71=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2688655	NM_016529.6(ATP8A2):c.2831C>T (p.Pro944Leu)	ATP8A2 (P879L +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 2683228	NM_016529.6(ATP8A2):c.957GTT[1] (p.Leu320del)	ATP8A2 (L280del +1 more)	Microsatellite (inframe deletion)	not provided	GUncertain significance
Select item 2643703	NM_016529.6(ATP8A2):c.1296G>A (p.Thr432=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643702	NM_016529.6(ATP8A2):c.998C>T (p.Ala333Val)	ATP8A2 (A293V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643701	NM_016529.6(ATP8A2):c.96G>C (p.Leu32Phe)	ATP8A2 (L32F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2628313	NM_016529.6(ATP8A2):c.1580-18C>G	ATP8A2	Single nucleotide variant (intron variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GPathogenic
Select item 2620441	NM_016529.6(ATP8A2):c.2768T>C (p.Leu923Ser)	ATP8A2 (L898S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579236	GRCh38/hg38 13q12.13(chr13:25567155-25574530)x0	ATP8A2	Copy number loss	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 2556136	NM_016529.6(ATP8A2):c.1247A>T (p.Asn416Ile)	ATP8A2 (N376I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538822	NM_016529.6(ATP8A2):c.24C>G (p.Asp8Glu)	ATP8A2 (D8E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537585	NM_016529.6(ATP8A2):c.790C>G (p.Leu264Val)	ATP8A2 (L224V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535379	NM_016529.6(ATP8A2):c.166C>T (p.Arg56Cys)	ATP8A2 (R16C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509623	NM_016529.6(ATP8A2):c.943G>T (p.Val315Leu)	ATP8A2 (V275L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506837	NM_016529.6(ATP8A2):c.1551T>G (p.Asp517Glu)	ATP8A2 (D477E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504567	NM_016529.6(ATP8A2):c.1170_1174delinsAAGTATACTCAAGTATACTCAAGTATACTCAAGTATACTCAAGTATAC (p.Leu391fs)	ATP8A2 (L351fs +1 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2499390	NM_016529.6(ATP8A2):c.1339G>A (p.Gly447Arg)	ATP8A2 (G407R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2489259	NM_016529.6(ATP8A2):c.3391G>C (p.Asp1131His)	ATP8A2 (D1066H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444321	NM_016529.6(ATP8A2):c.1272T>G (p.Tyr424Ter)	ATP8A2 (Y384* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GPathogenic
Select item 2439399	NM_016529.6(ATP8A2):c.-1016T>A	ATP8A2	Single nucleotide variant	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 2439398	NM_016529.6(ATP8A2):c.1474C>G (p.Pro492Ala)	ATP8A2 (P452A +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 2439397	NM_016529.6(ATP8A2):c.2059G>T (p.Val687Phe)	ATP8A2 (V647F +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 2436153	NM_016529.6(ATP8A2):c.1322dup (p.Lys442fs)	ATP8A2 (K402fs +1 more)	Duplication (frameshift variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GLikely pathogenic
Select item 2427879	NM_016529.6(ATP8A2):c.2818A>G (p.Met940Val)	ATP8A2 (M875V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2426474	NC_000013.10:g.(?_24293859)_(26594123_?)del	AMER2, ATP12A +12 more	Deletion	not provided	GPathogenic
Select item 2426308	NC_000013.10:g.(?_26586649)_(26594123_?)dup	ATP8A2	Duplication	not provided	GUncertain significance
Select item 2421240	NM_016529.6(ATP8A2):c.1353-6T>C	ATP8A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2419646	NM_016529.6(ATP8A2):c.1992C>T (p.Tyr664=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419291	NM_016529.6(ATP8A2):c.637C>T (p.Leu213Phe)	ATP8A2 (L173F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2417991	NM_016529.6(ATP8A2):c.147C>T (p.Asp49=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2377864	NM_016529.6(ATP8A2):c.1211A>G (p.Asn404Ser)	ATP8A2 (N404S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320812	NM_016529.6(ATP8A2):c.2825G>T (p.Arg942Met)	ATP8A2 (R942M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308204	NM_016529.6(ATP8A2):c.1385C>T (p.Ser462Leu)	ATP8A2 (S462L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303812	NM_016529.6(ATP8A2):c.3131T>C (p.Ile1044Thr)	ATP8A2 (I1019T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284613	NM_016529.6(ATP8A2):c.2855A>G (p.Asn952Ser)	ATP8A2 (N952S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280144	NM_016529.6(ATP8A2):c.215A>G (p.Gln72Arg)	ATP8A2 (Q32R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 6