"GeneDx"[submitter] AND "ANO10"[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 345169	NM_018075.5(ANO10):c.*246A>G	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GBenign/Likely benign
Select item 345170	NM_018075.5(ANO10):c.*196C>A	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GBenign
Select item 345171	NM_018075.5(ANO10):c.*179C>T	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GConflicting classifications of pathogenicity
Select item 1244257	NM_018075.5(ANO10):c.1915-79A>C	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266111	NM_018075.5(ANO10):c.1915-270G>A	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192475	NM_018075.5(ANO10):c.1915-5852T>C	ANO10 (S607P)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GBenign
Select item 1267162	NM_018075.5(ANO10):c.1914+237T>C	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293068	NM_018075.5(ANO10):c.1914+189T>G	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226993	NM_018075.5(ANO10):c.1797+238A>G	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245093	NM_018075.5(ANO10):c.1797+78G>T	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292882	NM_018075.5(ANO10):c.1797+70C>T	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128388	NM_018075.5(ANO10):c.1682C>T (p.Thr561Met)	ANO10 (T561M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1270284	NM_018075.5(ANO10):c.1669-65A>G	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282768	NM_018075.5(ANO10):c.1669-1566A>G	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 345182	NM_018075.5(ANO10):c.1477-14G>A	ANO10	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GBenign/Likely benign
Select item 1279203	NM_018075.5(ANO10):c.1477-37T>G	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227894	NM_018075.5(ANO10):c.1476+129C>T	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128387	NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln)	ANO10 (R462Q +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1274989	NM_018075.5(ANO10):c.1293+283A>G	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283475	NM_018075.5(ANO10):c.1293+282T>G	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1344916	NM_018075.5(ANO10):c.1293+182A>T	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321757	NM_018075.5(ANO10):c.1293+26C>T	ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260993	NM_018075.5(ANO10):c.1293+9A>G	ANO10	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1320495	NM_018075.5(ANO10):c.1219-8_1219-6dup	ANO10	Duplication (intron variant)	not provided	GLikely benign
Select item 1246256	NM_018075.5(ANO10):c.1219-23_1219-22dup	ANO10	Duplication (intron variant)	not provided	GBenign
Select item 1208504	NM_018075.5(ANO10):c.1219-5G>T	ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205886	NM_018075.5(ANO10):c.1219-23dup	ANO10	Duplication (intron variant)	not provided	GBenign
Select item 1321075	NM_018075.5(ANO10):c.1219-7_1219-6del	ANO10	Deletion (intron variant)	not provided	GLikely benign
Select item 1288446	NM_018075.5(ANO10):c.1219-6del	ANO10	Deletion (intron variant)	not provided	GBenign
Select item 1258448	NM_018075.5(ANO10):c.1219-96C>T	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239058	NM_018075.5(ANO10):c.1219-231T>C	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289437	NM_018075.5(ANO10):c.1219-277T>C	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1804423	NM_018075.5(ANO10):c.1218+5G>A	ANO10	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 128386	NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly)	ANO10 (S356G +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GBenign
Select item 345189	NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys)	ANO10 (Y327C +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 10 +2 more	GConflicting classifications of pathogenicity
Select item 901814	NM_018075.5(ANO10):c.788G>A (p.Arg263His)	ANO10 (R152H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1296061	NM_018075.5(ANO10):c.593-123G>A	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257233	NM_018075.5(ANO10):c.593-227A>C	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246623	NM_018075.5(ANO10):c.593-228C>G	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291808	NM_018075.5(ANO10):c.592+330del	ANO10	Deletion (intron variant)	not provided	GBenign
Select item 1277169	NM_018075.5(ANO10):c.592+310C>G	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182507	NM_018075.5(ANO10):c.592+264T>C	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248727	NM_018075.5(ANO10):c.592+193dup	ANO10	Duplication (intron variant)	not provided	GBenign
Select item 1232010	NM_018075.5(ANO10):c.592+210del	ANO10	Deletion (intron variant)	not provided	GBenign
Select item 3369621	NM_018075.5(ANO10):c.556T>C (p.Trp186Arg)	ANO10 (W120R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 345194	NM_018075.5(ANO10):c.486C>T (p.Leu162=)	ANO10	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 10 +2 more	GBenign
Select item 421009	NM_018075.5(ANO10):c.338-2A>G	ANO10	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1281628	NM_018075.5(ANO10):c.338-323T>G	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3369622	NM_018075.5(ANO10):c.337G>A (p.Asp113Asn)	ANO10 (D113N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 503974	NM_018075.5(ANO10):c.289del (p.Thr96_Met97insTer)	ANO10	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 931539	NM_018075.5(ANO10):c.223T>A (p.Ser75Thr)	ANO10 (S75T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1238341	NM_018075.5(ANO10):c.140-53G>T	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295678	NM_018075.5(ANO10):c.140-83G>A	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 162016	NM_018075.5(ANO10):c.132dup (p.Asp45fs)	ANO10 (D45fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 452043	NM_018075.5(ANO10):c.124A>T (p.Lys42Ter)	ANO10 (K42*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 434215	NM_018075.5(ANO10):c.96del (p.Glu33fs)	ANO10 (E33fs)	Deletion (frameshift variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GPathogenic
Select item 345197	NM_018075.5(ANO10):c.74A>C (p.Gln25Pro)	ANO10 (Q25P)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 373298	NM_018075.5(ANO10):c.2T>C (p.Met1Thr)	ANO10 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1255189	NM_018075.5(ANO10):c.-11-123G>A	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289862	NM_018075.5(ANO10):c.-11-218T>C	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253376	NM_018075.5(ANO10):c.-11-273A>G	ANO10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1333046	NC_000003.12:g.43690694A>T	ANO10, ABHD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673914	NM_016006.4(ABHD5):c.-294T>A	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670436	NM_016006.4(ABHD5):c.-248C>T	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670437	NM_016006.4(ABHD5):c.-242G>A	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218949	NC_000003.12:g.43690823G>A	ABHD5, ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 369420	NM_016006.5(ABHD5):c.-114A>G	ABHD5, ANO10	Single nucleotide variant (5 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis +1 more	GBenign/Likely benign
Select item 345213	NM_016006.6(ABHD5):c.-19C>T	ABHD5, ANO10	Single nucleotide variant (5 prime UTR variant +2 more)	Triglyceride storage disease with ichthyosis +1 more	GBenign
Select item 345214	NM_016006.6(ABHD5):c.12G>A (p.Glu4=)	ABHD5, ANO10	Single nucleotide variant (synonymous variant +2 more)	Triglyceride storage disease with ichthyosis +1 more	GBenign
Select item 523800	NM_016006.6(ABHD5):c.16G>T (p.Glu6Ter)	ABHD5, ANO10 (E6*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 345216	NM_016006.6(ABHD5):c.39C>T (p.Thr13=)	ABHD5, ANO10	Single nucleotide variant (synonymous variant +2 more)	Triglyceride storage disease with ichthyosis +1 more	GBenign/Likely benign
Select item 1251488	NM_016006.6(ABHD5):c.47+59G>A	ABHD5, ANO10	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 253640	GRCh37/hg19 3p22.1-21.31(chr3:41104508-44636698)x1	HHATL, ZKSCAN7 +29 more	Copy number loss	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 74