ANO3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 148783	GRCh38/hg38 11p15.1-14.2(chr11:21838014-26738627)x3	LOC126861164, LOC126861165 +49 more	Copy number gain	See cases	GUncertain significance
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 148655	GRCh38/hg38 11p14.3-14.1(chr11:23024064-27978597)x1	ANO3, ANO3-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 145522	GRCh38/hg38 11p14.3-13(chr11:24595399-31096539)x3	ANO3, ANO3-AS1 +71 more	Copy number gain	See cases	GPathogenic
Select item 151344	GRCh38/hg38 11p14.3-14.2(chr11:25402733-26309143)x3	ANO3, ANO3-AS1 +3 more	Copy number gain	See cases	GBenign
Select item 2576145	NM_001313726.2(ANO3):c.46T>C (p.Phe16Leu)	ANO3 (F16L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362365	NM_001313726.2(ANO3):c.58C>T (p.His20Tyr)	ANO3 (H20Y)	Single nucleotide variant (missense variant)	Dystonia 24	GPathogenic
Select item 1701170	NM_001313726.2(ANO3):c.104C>G (p.Ser35Cys)	ANO3 (S35C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1249029	NM_031418.1(ANO3):c.-386C>G	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288620	NM_031418.1(ANO3):c.-262C=	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247584	NM_031418.1(ANO3):c.-180T>A	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196266	NM_031418.4(ANO3):c.-143G>A	ANO3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1191751	NM_031418.4(ANO3):c.-54C>T	ANO3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1259186	NM_031418.4(ANO3):c.-12C>T	ANO3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2559059	NM_031418.4(ANO3):c.10C>A (p.His4Asn)	ANO3 (H4N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1098126	NM_031418.4(ANO3):c.12T>C (p.His4=)	ANO3	Single nucleotide variant (synonymous variant +1 more)	Dystonic disorder	GLikely benign
Select item 1391685	NM_031418.4(ANO3):c.17G>T (p.Gly6Val)	ANO3 (G6V)	Single nucleotide variant (missense variant +1 more)	Dystonic disorder	GUncertain significance
Select item 2764168	NM_031418.4(ANO3):c.46G>T (p.Gly16Cys)	ANO3 (G16C)	Single nucleotide variant (missense variant +1 more)	Dystonic disorder	GUncertain significance
Select item 2755570	NM_031418.4(ANO3):c.46+3C>T	ANO3	Single nucleotide variant (intron variant)	Dystonic disorder	GUncertain significance
Select item 1249245	NM_031418.4(ANO3):c.46+83G>T	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1273464	NM_031418.4(ANO3):c.46+139dup	ANO3	Duplication (intron variant)	not provided	GBenign
Select item 1225565	NM_031418.4(ANO3):c.46+136_46+139dup	ANO3	Duplication (intron variant)	not provided	GBenign
Select item 1215038	NM_031418.4(ANO3):c.46+138_46+139dup	ANO3	Duplication (intron variant)	not provided	GLikely benign
Select item 1206545	NM_031418.4(ANO3):c.46+137_46+139dup	ANO3	Duplication (intron variant)	not provided	GLikely benign
Select item 1271238	NM_031418.4(ANO3):c.46+139del	ANO3	Deletion (intron variant)	not provided	GBenign
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 526228	NM_031418.4(ANO3):c.47-10G>C	ANO3	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2050158	NM_031418.4(ANO3):c.47G>T (p.Gly16Val)	ANO3 (G16V +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 3368561	NM_031418.4(ANO3):c.49A>G (p.Met17Val)	ANO3 (M17V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 696389	NM_031418.4(ANO3):c.87G>C (p.Ser29=)	ANO3	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1308907	NM_031418.4(ANO3):c.100C>G (p.Arg34Gly)	ANO3 (R34G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2885753	NM_031418.4(ANO3):c.121G>C (p.Ala41Pro)	ANO3 (A41P +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2709433	NM_031418.4(ANO3):c.121G>T (p.Ala41Ser)	ANO3 (A102S +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 1498794	NM_031418.4(ANO3):c.121G>A (p.Ala41Thr)	ANO3 (A102T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 579456	NM_031418.4(ANO3):c.122C>T (p.Ala41Val)	ANO3 (A102V +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2141015	NM_031418.4(ANO3):c.124C>T (p.Gln42Ter)	ANO3 (Q103* +1 more)	Single nucleotide variant (nonsense)	Dystonic disorder	GUncertain significance
Select item 1335065	NM_031418.4(ANO3):c.128G>A (p.Ser43Asn)	ANO3 (S104N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2738098	NM_031418.4(ANO3):c.132C>T (p.Tyr44=)	ANO3	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 3011902	NM_031418.4(ANO3):c.155A>G (p.Gln52Arg)	ANO3 (Q113R +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2439109	NM_031418.4(ANO3):c.160A>G (p.Thr54Ala)	ANO3 (T115A +1 more)	Single nucleotide variant (missense variant)	Dystonia 24	GUncertain significance
Select item 2641691	NM_031418.4(ANO3):c.161C>T (p.Thr54Ile)	ANO3 (T115I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 412872	NM_031418.4(ANO3):c.164C>T (p.Ser55Phe)	ANO3 (S116F +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 697499	NM_031418.4(ANO3):c.180C>T (p.Thr60=)	ANO3	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2136530	NM_031418.4(ANO3):c.181G>A (p.Glu61Lys)	ANO3 (E122K +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1906130	NM_031418.4(ANO3):c.182A>C (p.Glu61Ala)	ANO3 (E122A +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GLikely benign
Select item 2729698	NM_031418.4(ANO3):c.186T>G (p.Ser62Arg)	ANO3 (S123R +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2726047	NM_031418.4(ANO3):c.212C>G (p.Thr71Ser)	ANO3 (T132S +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2038513	NM_031418.4(ANO3):c.222C>T (p.Ser74=)	ANO3	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2838435	NM_031418.4(ANO3):c.223A>G (p.Thr75Ala)	ANO3 (T136A +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1912386	NM_031418.4(ANO3):c.241+18T>C	ANO3	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 1263757	NM_031418.4(ANO3):c.242-80_242-77del	ANO3	Deletion (intron variant)	not provided	GBenign
Select item 1661915	NM_031418.4(ANO3):c.242-2A>C	ANO3	Single nucleotide variant (splice acceptor variant)	Dystonic disorder	GLikely benign
Select item 2057126	NM_031418.4(ANO3):c.248C>A (p.Thr83Asn)	ANO3 (T144N +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2720823	NM_031418.4(ANO3):c.255G>T (p.Glu85Asp)	ANO3 (E85D +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 455989	NM_031418.4(ANO3):c.257A>G (p.Asn86Ser)	ANO3 (N147S +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2038858	NM_031418.4(ANO3):c.263A>G (p.Asn88Ser)	ANO3 (N149S +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2732964	NM_031418.4(ANO3):c.265G>A (p.Asp89Asn)	ANO3 (D150N +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2196848	NM_031418.4(ANO3):c.270T>C (p.Ser90=)	ANO3	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 660637	NM_031418.4(ANO3):c.281G>A (p.Cys94Tyr)	ANO3 (C155Y +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GConflicting classifications of pathogenicity
Select item 1715419	NM_031418.4(ANO3):c.290C>T (p.Ala97Val)	ANO3 (A158V +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2038120	NM_031418.4(ANO3):c.293A>C (p.Asp98Ala)	ANO3 (D159A +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 444246	NM_031418.4(ANO3):c.295C>A (p.Leu99Ile)	ANO3 (L160I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1061127	NM_031418.4(ANO3):c.313G>A (p.Ala105Thr)	ANO3 (A105T +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1215608	NM_031418.4(ANO3):c.313+88dup	ANO3	Duplication (intron variant)	not provided	GLikely benign
Select item 1286149	NM_031418.4(ANO3):c.313+117G>A	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259984	NM_031418.4(ANO3):c.314-314_314-312del	ANO3	Microsatellite (intron variant)	not provided	GBenign
Select item 1207501	NM_031418.4(ANO3):c.314-276G>A	ANO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272660	NM_031418.4(ANO3):c.314-81G>C	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1630285	NM_031418.4(ANO3):c.314-11_314-6del	ANO3	Microsatellite (intron variant)	Dystonic disorder	GLikely benign
Select item 1414853	NM_031418.4(ANO3):c.314-9_314-6del	ANO3	Deletion (intron variant)	Dystonic disorder	GLikely benign
Select item 1151943	NM_031418.4(ANO3):c.314-4A>G	ANO3	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 3298788	NM_031418.4(ANO3):c.314C>A (p.Ala105Asp)	ANO3 (A105D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1449783	NM_031418.4(ANO3):c.338C>T (p.Thr113Met)	ANO3 (T113M +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2574396	NM_031418.4(ANO3):c.340G>C (p.Asp114His)	ANO3 (D114H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 526221	NM_031418.4(ANO3):c.348A>G (p.Ser116=)	ANO3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2906172	NM_031418.4(ANO3):c.354C>T (p.His118=)	ANO3	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1430350	NM_031418.4(ANO3):c.358A>G (p.Thr120Ala)	ANO3 (T120A +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2717842	NM_031418.4(ANO3):c.365A>C (p.Asp122Ala)	ANO3 (D183A +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2267549	NM_031418.4(ANO3):c.368G>A (p.Arg123Gln)	ANO3 (R184Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1445489	NM_031418.4(ANO3):c.370T>C (p.Ser124Pro)	ANO3 (S124P +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 3346808	NM_031418.4(ANO3):c.373C>G (p.Arg125Gly)	ANO3 (R125G +1 more)	Single nucleotide variant (missense variant)	ANO3-related disorder	GUncertain significance
Select item 2628661	NM_031418.4(ANO3):c.374G>A (p.Arg125His)	ANO3 (R125H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1086714	NM_031418.4(ANO3):c.387C>T (p.Asp129=)	ANO3	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2556775	NM_031418.4(ANO3):c.391G>T (p.Val131Phe)	ANO3 (V192F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2882876	NM_031418.4(ANO3):c.398A>G (p.Lys133Arg)	ANO3 (K133R +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GLikely benign
Select item 641488	NM_031418.4(ANO3):c.407C>A (p.Ser136Tyr)	ANO3 (S197Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1111668	NM_031418.4(ANO3):c.417G>A (p.Lys139=)	ANO3	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2179673	NM_031418.4(ANO3):c.421A>G (p.Lys141Glu)	ANO3 (K141E +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2662005	NM_031418.4(ANO3):c.428C>T (p.Ser143Phe)	ANO3 (S143F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176565	NM_031418.4(ANO3):c.432+4A>G	ANO3	Single nucleotide variant (intron variant)	Dystonic disorder +1 more	GUncertain significance
Select item 1190769	NM_031418.4(ANO3):c.432+165A>G	ANO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223782	NM_031418.4(ANO3):c.433-126C>T	ANO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022025	NM_031418.4(ANO3):c.433-18T>C	ANO3	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2822550	NM_031418.4(ANO3):c.433-4G>T	ANO3	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2006965	NM_031418.4(ANO3):c.464C>T (p.Pro155Leu)	ANO3 (P155L +2 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2109634	NM_031418.4(ANO3):c.493G>T (p.Asp165Tyr)	ANO3 (D226Y +2 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 663074	NM_031418.4(ANO3):c.523A>G (p.Ile175Val)	ANO3 (I175V +2 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GLikely benign
Select item 455990	NM_031418.4(ANO3):c.534T>C (p.Asp178=)	ANO3	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1148911	NM_031418.4(ANO3):c.546A>G (p.Thr182=)	ANO3	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign

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