ClinVar for Gene (Select 23250) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3355541	NM_015205.3(ATP11A):c.3058-9dup	ATP11A, LOC126861868	Duplication (intron variant)	ATP11A-related disorder	GLikely benign
Select item 3353256	NM_015205.3(ATP11A):c.1913G>A (p.Arg638Gln)	ATP11A (R638Q)	Single nucleotide variant (missense variant)	ATP11A-related disorder	GLikely benign
Select item 3350576	NM_015205.3(ATP11A):c.2245C>T (p.Leu749Phe)	ATP11A (L749F)	Single nucleotide variant (missense variant)	ATP11A-related disorder	GUncertain significance
Select item 3349576	NM_015205.3(ATP11A):c.1560A>T (p.Arg520Ser)	ATP11A (R520S)	Single nucleotide variant (missense variant)	ATP11A-related disorder	GLikely benign
Select item 3327657	NM_015205.3(ATP11A):c.3326A>G (p.Gln1109Arg)	ATP11A (Q1109R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327654	NM_015205.3(ATP11A):c.2922T>G (p.Phe974Leu)	ATP11A (F974L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327650	NM_015205.3(ATP11A):c.2926G>A (p.Ala976Thr)	ATP11A (A976T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327642	NM_015205.3(ATP11A):c.2198C>T (p.Thr733Met)	ATP11A (T733M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327635	NM_015205.3(ATP11A):c.1307A>G (p.Tyr436Cys)	ATP11A (Y436C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3327624	NM_015205.3(ATP11A):c.3293G>A (p.Arg1098Gln)	ATP11A (R1098Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257044	NM_015205.3(ATP11A):c.2292A>C (p.Ala764=)	ATP11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250653	NM_015205.3(ATP11A):c.*113C>T	ATP11A (P1144L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3239292	NM_015205.3(ATP11A):c.*78C>T	ATP11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3236552	NM_015205.3(ATP11A):c.2657TCT[1] (p.Phe887del)	ATP11A (F887del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3234512	NM_015205.3(ATP11A):c.3113C>T (p.Ser1038Leu)	ATP11A, LOC126861868 (S1038L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3148913	GRCh37/hg19 13q34(chr13:112071769-115107733)x3	ADPRHL1, ATP11A +23 more	Copy number gain	not provided	GUncertain significance
Select item 3131317	NM_015205.3(ATP11A):c.622G>A (p.Gly208Ser)	ATP11A (G208S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131316	NM_015205.3(ATP11A):c.431G>A (p.Arg144Gln)	ATP11A (R144Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131315	NM_015205.3(ATP11A):c.407G>A (p.Gly136Asp)	ATP11A (G136D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131314	NM_015205.3(ATP11A):c.*49T>C	ATP11A (Y1123H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3131313	NM_015205.3(ATP11A):c.*43G>A	ATP11A (A1142T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3131312	NM_015205.3(ATP11A):c.3274C>G (p.Leu1092Val)	ATP11A (L1092V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131311	NM_015205.3(ATP11A):c.3193G>C (p.Val1065Leu)	ATP11A (V1065L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131309	NM_015205.3(ATP11A):c.2938T>C (p.Phe980Leu)	ATP11A (F980L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131308	NM_015205.3(ATP11A):c.2888G>A (p.Arg963His)	ATP11A (R963H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131307	NM_015205.3(ATP11A):c.2882G>A (p.Arg961His)	ATP11A (R961H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131306	NM_015205.3(ATP11A):c.2860G>A (p.Val954Ile)	ATP11A (V954I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3131305	NM_015205.3(ATP11A):c.25C>G (p.Leu9Val)	ATP11A, LOC130010167 (L9V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131304	NM_015205.3(ATP11A):c.2530G>A (p.Gly844Ser)	ATP11A (G844S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131303	NM_015205.3(ATP11A):c.2333G>T (p.Gly778Val)	ATP11A (G778V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131302	NM_015205.3(ATP11A):c.2242G>A (p.Gly748Arg)	ATP11A (G748R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131301	NM_015205.3(ATP11A):c.2154C>G (p.Ile718Met)	ATP11A (I718M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131300	NM_015205.3(ATP11A):c.2084C>T (p.Ala695Val)	ATP11A (A695V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131299	NM_015205.3(ATP11A):c.2078C>T (p.Thr693Met)	ATP11A (T693M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131297	NM_015205.3(ATP11A):c.2071A>T (p.Met691Leu)	ATP11A (M691L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131296	NM_015205.3(ATP11A):c.1972G>T (p.Ala658Ser)	ATP11A (A658S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131295	NM_015205.3(ATP11A):c.1799G>A (p.Arg600His)	ATP11A (R600H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131294	NM_015205.3(ATP11A):c.1711A>C (p.Ile571Leu)	ATP11A (I571L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131293	NM_015205.3(ATP11A):c.1690G>A (p.Val564Ile)	ATP11A (V564I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131292	NM_015205.3(ATP11A):c.1487C>T (p.Pro496Leu)	ATP11A (P496L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131291	NM_015205.3(ATP11A):c.1400G>A (p.Arg467His)	ATP11A (R467H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131290	NM_015205.3(ATP11A):c.1177G>T (p.Gly393Trp)	ATP11A (G393W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131289	NM_015205.3(ATP11A):c.1015A>T (p.Arg339Trp)	ATP11A (R339W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064019	NM_015205.3(ATP11A):c.914T>A (p.Ile305Asn)	ATP11A (I305N)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 84	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 3048838	NM_015205.3(ATP11A):c.*185G>T	ATP11A (G1168V +2 more)	Single nucleotide variant (missense variant +1 more)	ATP11A-related disorder	GLikely benign
Select item 3045327	NM_015205.3(ATP11A):c.*80C>T	ATP11A (A1133V +2 more)	Single nucleotide variant (missense variant +1 more)	ATP11A-related disorder	GLikely benign
Select item 3029341	NM_015205.3(ATP11A):c.1122C>T (p.Leu374=)	ATP11A	Single nucleotide variant (synonymous variant)	ATP11A-related disorder	GLikely benign
Select item 3026470	NM_015205.3(ATP11A):c.3017C>T (p.Thr1006Met)	ATP11A (T1006M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024583	GRCh37/hg19 13q34(chr13:113158346-115091756)x1	ADPRHL1, ATP11A +21 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ANKRD10, ANKRD10-IT1 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684710	GRCh37/hg19 13q34(chr13:113445520-113818780)x3	ATP11A, F10 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2672550	NM_015205.3(ATP11A):c.1912C>T (p.Arg638Ter)	ATP11A (R638*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2643970	NM_015205.3(ATP11A):c.*77T>C	ATP11A (L1132P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2643969	NM_015205.3(ATP11A):c.*10-51G>A	ATP11A, LOC128772390 (A1113T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2643968	NM_015205.3(ATP11A):c.3351C>T (p.Val1117=)	ATP11A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2643967	NM_015205.3(ATP11A):c.2418+3G>A	ATP11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2643966	NM_015205.3(ATP11A):c.1150G>A (p.Asp384Asn)	ATP11A (D384N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643965	NM_015205.3(ATP11A):c.108C>T (p.Gly36=)	ATP11A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637848	NM_015205.3(ATP11A):c.673A>G (p.Lys225Glu)	ATP11A (K225E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634395	NM_015205.3(ATP11A):c.*55T>G	ATP11A (S1125A +2 more)	Single nucleotide variant (missense variant +1 more)	ATP11A-related disorder	GUncertain significance
Select item 2631633	NM_015205.3(ATP11A):c.3162-3C>G	ATP11A	Single nucleotide variant (intron variant)	ATP11A-related disorder	GUncertain significance
Select item 2631618	NM_015205.3(ATP11A):c.178_182del (p.Phe60fs)	ATP11A (F60fs)	Deletion (frameshift variant)	ATP11A-related disorder	GUncertain significance
Select item 2630479	NM_015205.3(ATP11A):c.1372_1373delinsCT (p.Ser458Leu)	ATP11A (S458L)	Indel (missense variant)	ATP11A-related disorder	GUncertain significance
Select item 2630408	NM_015205.3(ATP11A):c.1850T>C (p.Ile617Thr)	ATP11A (I617T)	Single nucleotide variant (missense variant)	ATP11A-related disorder	GUncertain significance
Select item 2616342	NM_015205.3(ATP11A):c.2432T>A (p.Ile811Asn)	ATP11A (I811N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616216	NM_015205.3(ATP11A):c.1465G>A (p.Val489Ile)	ATP11A (V489I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612606	NM_015205.3(ATP11A):c.*29C>G	ATP11A (T1137S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608082	NM_015205.3(ATP11A):c.2733G>T (p.Leu911Phe)	ATP11A (L911F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602318	NM_015205.3(ATP11A):c.1309G>A (p.Val437Met)	ATP11A (V437M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589493	NM_015205.3(ATP11A):c.3235A>G (p.Ile1079Val)	ATP11A (I1079V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588720	NM_015205.3(ATP11A):c.2863G>A (p.Ala955Thr)	ATP11A (A955T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588184	NM_015205.3(ATP11A):c.2956G>A (p.Val986Met)	ATP11A (V986M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2582641	NM_015205.3(ATP11A):c.80A>G (p.Tyr27Cys)	ATP11A (Y27C)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 84	GUncertain significance
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 2576073	NM_015205.3(ATP11A):c.1810-3C>T	ATP11A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2557996	NM_015205.3(ATP11A):c.1068T>G (p.Phe356Leu)	ATP11A (F356L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557668	NM_015205.3(ATP11A):c.1042G>A (p.Asp348Asn)	ATP11A (D348N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539998	NM_015205.3(ATP11A):c.3292C>G (p.Arg1098Gly)	ATP11A (R1098G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529820	NM_015205.3(ATP11A):c.2086G>T (p.Ala696Ser)	ATP11A (A696S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525590	NM_015205.3(ATP11A):c.541G>A (p.Ala181Thr)	ATP11A (A181T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522945	NM_015205.3(ATP11A):c.418C>T (p.Arg140Trp)	ATP11A (R140W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522173	NM_015205.3(ATP11A):c.*10-41G>A	ATP11A, LOC128772390 (R1117Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2518842	NM_015205.3(ATP11A):c.3061G>A (p.Ala1021Thr)	ATP11A, LOC126861868 (A1021T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516238	NM_015205.3(ATP11A):c.2107C>G (p.Leu703Val)	ATP11A (L703V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510374	NM_015205.3(ATP11A):c.406G>A (p.Gly136Ser)	ATP11A (G136S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502846	NM_015205.3(ATP11A):c.3328-494_*1355delinsAA	ATP11A, LOC128772388 +3 more	Indel (splice acceptor variant +1 more)	Auditory neuropathy, autosomal dominant 2	GPathogenic
Select item 2481074	NM_015205.3(ATP11A):c.3075C>G (p.His1025Gln)	ATP11A, LOC126861868 (H1025Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478399	NM_015205.3(ATP11A):c.1804G>A (p.Ala602Thr)	ATP11A (A602T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477264	NM_015205.3(ATP11A):c.1837T>C (p.Tyr613His)	ATP11A (Y613H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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