"GeneDx"[submitter] AND "ANO3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 151344	GRCh38/hg38 11p14.3-14.2(chr11:25402733-26309143)x3	ANO3, ANO3-AS1 +3 more	Copy number gain	See cases	GBenign
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 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 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 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 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 3371493	NM_031418.4(ANO3):c.166C>T (p.Leu56Phe)	ANO3 (L117F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1263757	NM_031418.4(ANO3):c.242-80_242-77del	ANO3	Deletion (intron variant)	not provided	GBenign
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 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 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 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 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 1257203	NM_031418.4(ANO3):c.591+91G>C	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218598	NM_031418.4(ANO3):c.591+243G>A	ANO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202352	NM_031418.4(ANO3):c.591+270A>G	ANO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269219	NM_031418.4(ANO3):c.592-307C>T	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270111	NM_031418.4(ANO3):c.592-255G>T	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261072	NM_031418.4(ANO3):c.592-143dup	ANO3	Duplication (intron variant)	not provided	GBenign
Select item 1310680	NM_031418.4(ANO3):c.610G>A (p.Asp204Asn)	ANO3 (D204N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386788	NM_031418.4(ANO3):c.613A>G (p.Ile205Val)	ANO3 (I205V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1198864	NM_031418.4(ANO3):c.692+148T>C	ANO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240729	NM_031418.4(ANO3):c.692+163C>T	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272305	NM_031418.4(ANO3):c.692+274G>A	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249128	NM_031418.4(ANO3):c.692+300G>A	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273686	NM_031418.4(ANO3):c.693-251_693-248del	ANO3	Deletion (intron variant)	not provided	GBenign
Select item 1289450	NM_031418.4(ANO3):c.693-197G>A	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223343	NM_031418.4(ANO3):c.693-195A>G	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197747	NM_031418.4(ANO3):c.693-154C>T	ANO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215045	NM_031418.4(ANO3):c.693-113A>G	ANO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 254028	NM_031418.4(ANO3):c.702C>G (p.Cys234Trp)	ANO3 (C234W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 388790	NM_031418.4(ANO3):c.704A>G (p.Tyr235Cys)	ANO3 (Y235C +2 more)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GConflicting classifications of pathogenicity
Select item 1306674	NM_031418.4(ANO3):c.709A>G (p.Thr237Ala)	ANO3 (T237A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 412870	NM_031418.4(ANO3):c.714C>T (p.Asp238=)	ANO3	Single nucleotide variant (synonymous variant)	Dystonia 24 +2 more	GBenign/Likely benign
Select item 1209269	NM_031418.4(ANO3):c.737+119G>T	ANO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247743	NM_031418.4(ANO3):c.737+122G>A	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290671	NM_031418.4(ANO3):c.737+127T>G	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269595	NM_031418.4(ANO3):c.737+263_737+264del	ANO3	Deletion (intron variant)	not provided	GBenign
Select item 1223001	NM_031418.4(ANO3):c.738-305A>C	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263965	NM_031418.4(ANO3):c.738-284_738-281del	ANO3	Deletion (intron variant)	not provided	GBenign
Select item 1269815	NM_031418.4(ANO3):c.738-73T>A	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1259874	NM_031418.4(ANO3):c.738-56T>A	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1275538	NM_031418.4(ANO3):c.738-50T>C	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3343704	NM_031418.4(ANO3):c.771G>C (p.Trp257Cys)	ANO3 (W111C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1235198	NM_031418.4(ANO3):c.869+174G>A	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180352	NM_031418.4(ANO3):c.869+226C>T	ANO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 696077	NM_031418.4(ANO3):c.870-7T>C	ANO3	Single nucleotide variant (intron variant)	Dystonia 24 +2 more	GBenign
Select item 546184	NM_031418.4(ANO3):c.914G>A (p.Arg305Gln)	ANO3 (R305Q +2 more)	Single nucleotide variant (missense variant)	Dystonic disorder +2 more	GUncertain significance
Select item 1288817	NM_031418.4(ANO3):c.976+145A>G	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251506	NM_031418.4(ANO3):c.976+286G>A	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272087	NM_031418.4(ANO3):c.977-112G>A	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182825	NM_031418.4(ANO3):c.977-80T>C	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 412869	NM_031418.4(ANO3):c.977-6T>C	ANO3	Single nucleotide variant (intron variant)	Dystonic disorder +2 more	GBenign
Select item 1331286	NM_031418.4(ANO3):c.992T>A (p.Ile331Lys)	ANO3 (I185K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 639297	NM_031418.4(ANO3):c.1003T>A (p.Ser335Thr)	ANO3 (S189T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1699525	NM_031418.4(ANO3):c.1007dup (p.Tyr336Ter)	ANO3 (Y190* +2 more)	Duplication (nonsense)	not provided	GUncertain significance
Select item 1202891	NM_031418.4(ANO3):c.1032+15C>T	ANO3	Single nucleotide variant (intron variant)	Dystonia 24 +2 more	GBenign/Likely benign
Select item 1280565	NM_031418.4(ANO3):c.1032+164G>A	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264564	NM_031418.4(ANO3):c.1033-313T>C	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251172	NM_031418.4(ANO3):c.1033-312G>A	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234267	NM_031418.4(ANO3):c.1033-305_1033-304del	ANO3	Deletion (intron variant)	not provided	GBenign
Select item 1265553	NM_031418.4(ANO3):c.1033-30A>T	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1712095	NM_031418.4(ANO3):c.1067A>G (p.His356Arg)	ANO3 (H210R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382541	NM_031418.4(ANO3):c.1088A>G (p.His363Arg)	ANO3 (H363R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698019	NM_031418.4(ANO3):c.1102C>G (p.Arg368Gly)	ANO3 (R222G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695815	NM_031418.4(ANO3):c.1112G>A (p.Arg371His)	ANO3 (R225H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1261983	NM_031418.4(ANO3):c.1154+37T>G	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1166102	NM_031418.4(ANO3):c.1158A>G (p.Leu386=)	ANO3	Single nucleotide variant (synonymous variant)	Dystonic disorder +2 more	GBenign
Select item 455984	NM_031418.4(ANO3):c.1215G>A (p.Met405Ile)	ANO3 (M466I +2 more)	Single nucleotide variant (missense variant)	Dystonic disorder +2 more	GUncertain significance
Select item 1289166	NM_031418.4(ANO3):c.1289+143_1289+144del	ANO3	Deletion (intron variant)	not provided	GBenign
Select item 1271840	NM_031418.4(ANO3):c.1289+143G>T	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237379	NM_031418.4(ANO3):c.1289+143del	ANO3	Deletion (intron variant)	not provided	GBenign
Select item 1259383	NM_031418.4(ANO3):c.1289+305G>A	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286781	NM_031418.4(ANO3):c.1290-253T>G	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260991	NM_031418.4(ANO3):c.1290-205T>A	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228704	NM_031418.4(ANO3):c.1290-166A>G	ANO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288299	NM_031418.4(ANO3):c.1290-56T>C	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1220481	NM_031418.4(ANO3):c.1290-44T>C	ANO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202500	NM_031418.4(ANO3):c.1290-26_1290-25insTTTTT	ANO3	Insertion (intron variant)	not provided	GLikely benign
Select item 1196662	NM_031418.4(ANO3):c.1290-27_1290-26dup	ANO3	Duplication (intron variant)	not provided	GLikely benign
Select item 1278043	NM_031418.4(ANO3):c.1290-25G>T	ANO3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1186880	NM_031418.4(ANO3):c.1290-20dup	ANO3	Duplication (intron variant)	not provided	GLikely benign

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