25519[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 900037	NM_018075.5(ANO10):c.*569T>C	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345161	NM_018075.5(ANO10):c.*464C>T	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive cerebellar ataxia	GUncertain significance
Select item 345162	NM_018075.5(ANO10):c.*452A>G	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345163	NM_018075.5(ANO10):c.*447G>A	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GConflicting classifications of pathogenicity
Select item 345164	NM_018075.5(ANO10):c.*444C>T	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GBenign
Select item 345165	NM_018075.5(ANO10):c.*438A>T	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345166	NM_018075.5(ANO10):c.*432G>T	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GBenign
Select item 900038	NM_018075.5(ANO10):c.*418T>C	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345167	NM_018075.5(ANO10):c.*372G>T	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345168	NM_018075.5(ANO10):c.*368C>T	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
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 901197	NM_018075.5(ANO10):c.*237G>C	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
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 901198	NM_018075.5(ANO10):c.*165G>A	ANO10	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 901199	NM_018075.5(ANO10):c.*164C>T	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345172	NM_018075.5(ANO10):c.*91G>A	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345173	NM_018075.5(ANO10):c.*82G>A	ANO10	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 345174	NM_018075.5(ANO10):c.*74dup	ANO10	Duplication (3 prime UTR variant)	Autosomal recessive cerebellar ataxia	GUncertain significance
Select item 2684245	NM_018075.5(ANO10):c.*10G>A	ANO10	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 804525	NM_018075.5(ANO10):c.1962C>T (p.Ser654=)	ANO10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 741951	NM_018075.5(ANO10):c.1954A>G (p.Met652Val)	ANO10 (M462V +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2906349	NM_018075.5(ANO10):c.1932C>T (p.Thr644=)	ANO10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3298711	NM_018075.5(ANO10):c.1927G>A (p.Val643Met)	ANO10 (V604M +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2967521	NM_018075.5(ANO10):c.1926C>T (p.Leu642=)	ANO10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 901745	NM_018075.5(ANO10):c.1923G>A (p.Lys641=)	ANO10	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GConflicting classifications of pathogenicity
Select item 2702443	NM_018075.5(ANO10):c.1915-7T>G	ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994254	NM_018075.5(ANO10):c.1915-10C>G	ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2731875	NM_018075.5(ANO10):c.1915-15G>A	ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 425294	NM_018075.5(ANO10):c.1915-5816C>A	ANO10 (P619T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 446832	NM_018075.5(ANO10):c.1915-5863G>A	ANO10 (C603Y)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2684264	NM_018075.5(ANO10):c.1915-5883G>C	ANO10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2869784	NM_018075.5(ANO10):c.1914+9A>G	ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786558	NM_018075.5(ANO10):c.1914+4AG[3]	ANO10	Microsatellite (intron variant)	not provided	GLikely benign
Select item 901746	NM_018075.5(ANO10):c.1914+3G>A	ANO10	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2709261	NM_018075.5(ANO10):c.1893T>A (p.Ser631=)	ANO10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004767	NM_018075.5(ANO10):c.1879C>T (p.Leu627=)	ANO10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2799520	NM_018075.5(ANO10):c.1872A>G (p.Leu624=)	ANO10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2684269	NM_018075.5(ANO10):c.1866G>A (p.Met622Ile)	ANO10 (M432I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 345175	NM_018075.5(ANO10):c.1864A>G (p.Met622Val)	ANO10 (M622V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2684267	NM_018075.5(ANO10):c.1853G>A (p.Arg618Gln)	ANO10 (R428Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2692523	NM_018075.5(ANO10):c.1850del (p.Pro617fs)	ANO10 (P551fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 162017	NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn)	ANO10 (D615N +4 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 10 +2 more	GConflicting classifications of pathogenicity
Select item 3127084	NM_018075.5(ANO10):c.1837A>G (p.Ile613Val)	ANO10 (I423V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 345176	NM_018075.5(ANO10):c.1817A>G (p.Lys606Arg)	ANO10 (K606R +4 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance
Select item 2751581	NM_018075.5(ANO10):c.1806C>T (p.Leu602=)	ANO10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3127083	NM_018075.5(ANO10):c.1801G>A (p.Ala601Thr)	ANO10 (A490T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2725663	NM_018075.5(ANO10):c.1800C>T (p.His600=)	ANO10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2712838	NM_018075.5(ANO10):c.1798-4del	ANO10	Deletion (intron variant)	not provided	GBenign
Select item 434216	NM_018075.5(ANO10):c.1798-12_1798-9del	ANO10	Microsatellite (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2997626	NM_018075.5(ANO10):c.1798-12T>G	ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2746124	NM_018075.5(ANO10):c.1798-16T>G	ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709252	NM_018075.5(ANO10):c.1798-16T>C	ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958163	NM_018075.5(ANO10):c.1798-17C>T	ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792486	NM_018075.5(ANO10):c.1798-19T>A	ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2798767	NM_018075.5(ANO10):c.1797+19T>G	ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996859	NM_018075.5(ANO10):c.1797+16A>C	ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766255	NM_018075.5(ANO10):c.1797+14T>G	ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772063	NM_018075.5(ANO10):c.1797+11A>G	ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 585395	NM_018075.5(ANO10):c.1797+1G>A	ANO10	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2977839	NM_018075.5(ANO10):c.1770C>T (p.Asp590=)	ANO10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684263	NM_018075.5(ANO10):c.1760C>G (p.Ser587Ter)	ANO10 (S397* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2684260	NM_018075.5(ANO10):c.1753C>A (p.Pro585Thr)	ANO10 (P395T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799303	NM_018075.5(ANO10):c.1740G>A (p.Val580=)	ANO10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747697	NM_018075.5(ANO10):c.1740G>C (p.Val580=)	ANO10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847048	NM_018075.5(ANO10):c.1731A>G (p.Ser577=)	ANO10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 804524	NM_018075.5(ANO10):c.1724G>A (p.Gly575Glu)	ANO10 (G614E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006587	NM_018075.5(ANO10):c.1716G>C (p.Ala572=)	ANO10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 804523	NM_018075.5(ANO10):c.1716G>A (p.Ala572=)	ANO10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 446831	NM_018075.5(ANO10):c.1715C>T (p.Ala572Val)	ANO10 (A572V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 446830	NM_018075.5(ANO10):c.1715C>A (p.Ala572Glu)	ANO10 (A572E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 901747	NM_018075.5(ANO10):c.1710C>T (p.Asn570=)	ANO10	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GConflicting classifications of pathogenicity
Select item 446829	NM_018075.5(ANO10):c.1688G>A (p.Ser563Asn)	ANO10 (S563N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653720	NM_018075.5(ANO10):c.1683G>A (p.Thr561=)	ANO10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 345177	NM_018075.5(ANO10):c.1683G>C (p.Thr561=)	ANO10	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 10 +1 more	GConflicting classifications of pathogenicity
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 2840386	NM_018075.5(ANO10):c.1674T>A (p.Ala558=)	ANO10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699446	NM_018075.5(ANO10):c.1669-2A>G	ANO10	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 210185	NM_018075.5(ANO10):c.1669-2A>T	ANO10	Single nucleotide variant (splice acceptor variant)	Autosomal recessive spinocerebellar ataxia 10	GPathogenic
Select item 345178	NM_018075.5(ANO10):c.1669-8T>G	ANO10	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 10 +2 more	GBenign/Likely benign
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 3338186	NM_018075.5(ANO10):c.1669-1730G>T	ANO10 (C560F)	Single nucleotide variant (missense variant +1 more)	Autism	GUncertain significance
Select item 2965519	NM_018075.5(ANO10):c.1668+20del	ANO10	Deletion (intron variant)	not provided	GBenign
Select item 2971074	NM_018075.5(ANO10):c.1668+11G>A	ANO10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960132	NM_018075.5(ANO10):c.1668+8_1668+11del	ANO10	Deletion (intron variant)	not provided	GLikely benign
Select item 3298732	NM_018075.5(ANO10):c.1652A>G (p.Asn551Ser)	ANO10 (N361S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3019065	NM_018075.5(ANO10):c.1647A>G (p.Ser549=)	ANO10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858109	NM_018075.5(ANO10):c.1646C>G (p.Ser549Ter)	ANO10 (S359* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 902650	NM_018075.5(ANO10):c.1643C>A (p.Pro548His)	ANO10 (P482H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2796878	NM_018075.5(ANO10):c.1632A>G (p.Pro544=)	ANO10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 345179	NM_018075.5(ANO10):c.1628G>A (p.Arg543His)	ANO10 (R543H +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 10	GUncertain significance

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