13533[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153760	GRCh37/hg19 13q12.13(chr13:26284166-26428005)x1	ATP8A2	Copy number loss	See cases	GUncertain significance
Select item 150151	GRCh37/hg19 13q12.13(chr13:26248721-26359860)x1	ATP8A2	Copy number loss	See cases	GUncertain significance
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 58236	GRCh38/hg38 13q12.12-12.13(chr13:24635449-25592788)x3	AMER2, ATP12A +32 more	Copy number gain	See cases	GUncertain significance
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 1375571	NM_016529.6(ATP8A2):c.9C>A (p.Asn3Lys)	ATP8A2 (N3K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504688	NM_016529.6(ATP8A2):c.11G>C (p.Gly4Ala)	ATP8A2 (G4A)	Single nucleotide variant (missense variant)	not provided +1 more	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 1627102	NM_016529.6(ATP8A2):c.30T>A (p.Ala10=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1934068	NM_016529.6(ATP8A2):c.57G>A (p.Ser19=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936952	NM_016529.6(ATP8A2):c.66C>T (p.Arg22=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1417260	NM_016529.6(ATP8A2):c.68C>G (p.Ser23Trp)	ATP8A2 (S23W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2779304	NM_016529.6(ATP8A2):c.69G>C (p.Ser23=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 446062	NM_016529.6(ATP8A2):c.76+10G>A	ATP8A2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1601635	NM_016529.6(ATP8A2):c.76+17_76+35dup	ATP8A2	Duplication (intron variant)	not provided	GBenign
Select item 148224	GRCh38/hg38 13q12.13(chr13:25410920-25605325)x3	ATP8A2, LOC130009412	Copy number gain	See cases	GUncertain significance
Select item 1599231	NM_016529.6(ATP8A2):c.77-18T>G	ATP8A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1607352	NM_016529.6(ATP8A2):c.77-4G>T	ATP8A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1033826	NM_016529.6(ATP8A2):c.77-2A>G	ATP8A2	Single nucleotide variant (splice acceptor variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GPathogenic
Select item 2064051	NM_016529.6(ATP8A2):c.77G>A (p.Gly26Glu)	ATP8A2 (G26E)	Single nucleotide variant (5 prime UTR variant +1 more)	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 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 1702569	NM_016529.6(ATP8A2):c.130_131del (p.Ala44fs)	ATP8A2 (A44fs +1 more)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 128488	NM_016529.6(ATP8A2):c.144A>C (p.Gly48=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 218738	NM_016529.6(ATP8A2):c.145G>T (p.Asp49Tyr)	ATP8A2 (D49Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2417991	NM_016529.6(ATP8A2):c.147C>T (p.Asp49=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 547903	NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val)	ATP8A2 (A53V +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 2182053	NM_016529.6(ATP8A2):c.165C>A (p.Ala55=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1994958	NM_016529.6(ATP8A2):c.167G>T (p.Arg56Leu)	ATP8A2 (R56L +1 more)	Single nucleotide variant (missense variant)	not provided	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 2829949	NM_016529.6(ATP8A2):c.177C>T (p.Tyr59=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1486593	NM_016529.6(ATP8A2):c.183C>A (p.Asn61Lys)	ATP8A2 (N61K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1574895	NM_016529.6(ATP8A2):c.207C>T (p.Arg69=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 930222	NM_016529.6(ATP8A2):c.210del (p.Asp70fs)	ATP8A2 (D30fs +1 more)	Deletion (frameshift variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GLikely pathogenic
Select item 2715755	NM_016529.6(ATP8A2):c.213C>T (p.Asn71=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
Select item 3002914	NM_016529.6(ATP8A2):c.222-14C>A	ATP8A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1627236	NM_016529.6(ATP8A2):c.222-8A>C	ATP8A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 806997	NM_016529.6(ATP8A2):c.222-4dup	ATP8A2	Duplication (intron variant)	not provided	GUncertain significance
Select item 1379568	NM_016529.6(ATP8A2):c.237C>T (p.Ser79=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1427140	NM_016529.6(ATP8A2):c.238G>A (p.Val80Met)	ATP8A2 (V40M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026705	NM_016529.6(ATP8A2):c.267T>C (p.Tyr89=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1543645	NM_016529.6(ATP8A2):c.300T>C (p.Phe100=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 421707	NM_016529.6(ATP8A2):c.321+3_321+8del	ATP8A2	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2197331	NM_016529.6(ATP8A2):c.329C>G (p.Pro110Arg)	ATP8A2 (P110R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966668	NM_016529.6(ATP8A2):c.343A>G (p.Thr115Ala)	ATP8A2 (T75A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922631	NM_016529.6(ATP8A2):c.351A>G (p.Arg117=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1481617	NM_016529.6(ATP8A2):c.385A>G (p.Thr129Ala)	ATP8A2 (T129A +1 more)	Single nucleotide variant (missense variant)	not provided	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 2201206	NM_016529.6(ATP8A2):c.407T>G (p.Ile136Ser)	ATP8A2 (I96S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1700839	NM_016529.6(ATP8A2):c.413A>G (p.Glu138Gly)	ATP8A2 (E138G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1376484	NM_016529.6(ATP8A2):c.415G>A (p.Asp139Asn)	ATP8A2 (D139N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422182	NM_016529.6(ATP8A2):c.424C>T (p.Arg142Ter)	ATP8A2 (R142* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1473198	NM_016529.6(ATP8A2):c.431A>T (p.Lys144Met)	ATP8A2 (K104M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959044	NM_016529.6(ATP8A2):c.459A>G (p.Lys153=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1168393	NM_016529.6(ATP8A2):c.462A>C (p.Thr154=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1650518	NM_016529.6(ATP8A2):c.467-17_467-14del	ATP8A2	Deletion (intron variant)	not provided	GLikely benign
Select item 1354515	NM_016529.6(ATP8A2):c.476A>G (p.Asn159Ser)	ATP8A2 (N119S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189446	NM_016529.6(ATP8A2):c.478G>C (p.Gly160Arg)	ATP8A2 (G120R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1715264	NM_016529.6(ATP8A2):c.481A>G (p.Met161Val)	ATP8A2 (M121V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2207590	NM_016529.6(ATP8A2):c.497T>C (p.Met166Thr)	ATP8A2 (M126T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2913732	NM_016529.6(ATP8A2):c.507+8C>T	ATP8A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610629	NM_016529.6(ATP8A2):c.507+17A>G	ATP8A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1526205	NM_016529.6(ATP8A2):c.518del (p.Gly173fs)	ATP8A2 (G133fs +1 more)	Deletion (frameshift variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GLikely pathogenic
Select item 2201578	NM_016529.6(ATP8A2):c.535G>A (p.Val179Ile)	ATP8A2 (V179I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1716411	NM_016529.6(ATP8A2):c.560A>G (p.Asp187Gly)	ATP8A2 (D147G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954735	NM_016529.6(ATP8A2):c.581+14G>A	ATP8A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1587705	NM_016529.6(ATP8A2):c.582-8C>T	ATP8A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1523640	NM_016529.6(ATP8A2):c.598T>G (p.Cys200Gly)	ATP8A2 (C200G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1516468	NM_016529.6(ATP8A2):c.643A>T (p.Ile215Leu)	ATP8A2 (I175L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2009957	NM_016529.6(ATP8A2):c.663C>T (p.His221=)	ATP8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 976733	NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs)	ATP8A2 (L191fs +1 more)	Deletion (frameshift variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GPathogenic
Select item 1526029	NM_016529.6(ATP8A2):c.709del (p.Thr237fs)	ATP8A2 (T197fs +1 more)	Deletion (frameshift variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GPathogenic
Select item 1695596	NM_016529.6(ATP8A2):c.713T>G (p.Ile238Arg)	ATP8A2 (I198R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993264	NM_016529.6(ATP8A2):c.739C>T (p.Leu247Phe)	ATP8A2 (L247F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029610	NM_016529.6(ATP8A2):c.743A>G (p.Tyr248Cys)	ATP8A2 (Y248C +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4	GUncertain significance
Select item 1393467	NM_016529.6(ATP8A2):c.753T>A (p.Thr251=)	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 2125074	NM_016529.6(ATP8A2):c.758A>G (p.Asn253Ser)	ATP8A2 (N253S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501266	NM_016529.6(ATP8A2):c.776A>G (p.Lys259Arg)	ATP8A2 (K219R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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