ATXN7[gene] and "single gene"[properties] - ClinVar

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Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2388681	NM_001377405.1(ATXN7):c.403A>G (p.Ile135Val)	ATXN7 (I135V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555307	NM_001377405.1(ATXN7):c.437A>G (p.Tyr146Cys)	ATXN7 (Y146C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132280	NM_001377405.1(ATXN7):c.488A>C (p.Gln163Pro)	ATXN7 (Q163P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2653942	NM_001377405.1(ATXN7):c.500-8G>A	ATXN7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 599432	NM_001377405.1(ATXN7):c.538G>A (p.Val180Ile)	ATXN7 (V180I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2335228	NM_001377405.1(ATXN7):c.564C>G (p.Phe188Leu)	ATXN7 (F43L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519077	NM_001377405.1(ATXN7):c.584G>A (p.Ser195Asn)	ATXN7 (S195N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3333287	NM_001377405.1(ATXN7):c.616T>A (p.Ser206Thr)	ATXN7 (S61T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374969	NM_001377405.1(ATXN7):c.632T>C (p.Val211Ala)	ATXN7 (V66A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213486	NM_001377405.1(ATXN7):c.634C>G (p.Leu212Val)	ATXN7 (L67V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132282	NM_001377405.1(ATXN7):c.639C>G (p.Ser213Arg)	ATXN7 (S68R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408436	NM_001377405.1(ATXN7):c.647C>T (p.Ser216Leu)	ATXN7 (S216L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360303	NM_001377405.1(ATXN7):c.690G>C (p.Gln230His)	ATXN7 (Q230H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045852	NM_001377405.1(ATXN7):c.695G>A (p.Arg232Lys)	ATXN7 (R232K +1 more)	Single nucleotide variant (missense variant)	ATXN7-related disorder	GLikely benign
Select item 3333277	NM_001377405.1(ATXN7):c.737T>C (p.Val246Ala)	ATXN7 (V101A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364779	NM_001377405.1(ATXN7):c.739C>T (p.Pro247Ser)	ATXN7 (P102S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282544	NM_001377405.1(ATXN7):c.763T>G (p.Ser255Ala)	ATXN7 (S110A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354813	NM_001377405.1(ATXN7):c.772G>A (p.Val258Met)	ATXN7 (V113M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 128519	NM_001377405.1(ATXN7):c.791A>G (p.Lys264Arg)	ATXN7 (K264R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3132283	NM_001377405.1(ATXN7):c.841A>C (p.Thr281Pro)	ATXN7 (T136P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 208955	NM_001377405.1(ATXN7):c.844G>A (p.Val282Met)	ATXN7 (V282M +1 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 3132284	NM_001377405.1(ATXN7):c.873C>G (p.Asn291Lys)	ATXN7 (N146K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132285	NM_001377405.1(ATXN7):c.875G>A (p.Cys292Tyr)	ATXN7 (C147Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3033528	NM_001377405.1(ATXN7):c.916A>T (p.Ile306Phe)	ATXN7 (I161F +1 more)	Single nucleotide variant (missense variant)	ATXN7-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3132286	NM_001377405.1(ATXN7):c.923A>C (p.Asn308Thr)	ATXN7 (N163T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455005	NM_001377405.1(ATXN7):c.943C>T (p.Pro315Ser)	ATXN7 (P315S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222362	NM_001377405.1(ATXN7):c.980A>G (p.Asn327Ser)	ATXN7 (N182S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1284798	NM_001377405.1(ATXN7):c.1012+13T>A	ATXN7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2277673	NM_001377405.1(ATXN7):c.1162G>A (p.Glu388Lys)	ATXN7 (E388K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286971	NM_001377405.1(ATXN7):c.1220C>G (p.Pro407Arg)	ATXN7 (P407R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620419	NM_001377405.1(ATXN7):c.1222C>T (p.Pro408Ser)	ATXN7 (P408S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053199	NM_001377405.1(ATXN7):c.1249G>A (p.Ala417Thr)	ATXN7 (A272T +1 more)	Single nucleotide variant (missense variant)	ATXN7-related disorder	GLikely benign
Select item 2277553	NM_001377405.1(ATXN7):c.1288C>T (p.His430Tyr)	ATXN7 (H285Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389453	NM_001377405.1(ATXN7):c.1348C>T (p.Pro450Ser)	ATXN7 (P305S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512430	NM_001377405.1(ATXN7):c.1370G>A (p.Gly457Asp)	ATXN7 (G312D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462893	NM_001377405.1(ATXN7):c.1417G>C (p.Val473Leu)	ATXN7 (V328L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204208	NM_001377405.1(ATXN7):c.1429C>T (p.Pro477Ser)	ATXN7 (P332S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555938	NM_001377405.1(ATXN7):c.1483G>A (p.Gly495Ser)	ATXN7 (G350S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2653943	NM_001377405.1(ATXN7):c.1484G>A (p.Gly495Asp)	ATXN7 (G350D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2605155	NM_001377405.1(ATXN7):c.1486G>A (p.Glu496Lys)	ATXN7 (E351K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260790	NM_001377405.1(ATXN7):c.1540C>T (p.His514Tyr)	ATXN7 (H514Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 638341	NM_001377405.1(ATXN7):c.1594G>A (p.Gly532Ser)	ATXN7 (G532S +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 7	GUncertain significance
Select item 1284747	NM_001377405.1(ATXN7):c.1613C>G (p.Ser538Cys)	ATXN7 (S393C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132263	NM_001377405.1(ATXN7):c.1625G>A (p.Arg542Gln)	ATXN7 (R397Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132264	NM_001377405.1(ATXN7):c.1630C>T (p.Arg544Cys)	ATXN7 (R544C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 809502	NM_001377405.1(ATXN7):c.1638C>A (p.Ala546=)	ATXN7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3051245	NM_001377405.1(ATXN7):c.1659G>A (p.Lys553=)	ATXN7	Single nucleotide variant (synonymous variant)	ATXN7-related disorder	GBenign
Select item 2557824	NM_001377405.1(ATXN7):c.1739G>A (p.Arg580Gln)	ATXN7 (R580Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132265	NM_001377405.1(ATXN7):c.1750G>A (p.Val584Met)	ATXN7 (V439M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343617	NM_001377405.1(ATXN7):c.1837C>G (p.Pro613Ala)	ATXN7 (P468A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132267	NM_001377405.1(ATXN7):c.1840A>G (p.Asn614Asp)	ATXN7 (N614D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338031	NM_001377405.1(ATXN7):c.1885C>T (p.Pro629Ser)	ATXN7 (P484S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132268	NM_001377405.1(ATXN7):c.1901C>T (p.Ala634Val)	ATXN7 (A489V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292788	NM_001377405.1(ATXN7):c.1975C>T (p.Leu659Phe)	ATXN7 (L514F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478224	NM_001377405.1(ATXN7):c.1991C>T (p.Ser664Phe)	ATXN7 (S664F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3337840	NM_001377405.1(ATXN7):c.1997C>T (p.Pro666Leu)	ATXN7 (P521L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2271570	NM_001377405.1(ATXN7):c.2084C>T (p.Ala695Val)	ATXN7 (A695V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1676280	NM_001377405.1(ATXN7):c.2119C>A (p.Arg707Ser)	ATXN7 (R562S +1 more)	Single nucleotide variant (missense variant)	Tip-toe gait	GLikely pathogenic
Select item 1691553	NM_001377405.1(ATXN7):c.2120G>A (p.Arg707His)	ATXN7 (R562H +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 7	GUncertain significance
Select item 3132270	NM_001377405.1(ATXN7):c.2135C>T (p.Pro712Leu)	ATXN7 (P567L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 128516	NM_001377405.1(ATXN7):c.2137C>T (p.Leu713=)	ATXN7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2411215	NM_001377405.1(ATXN7):c.2153C>G (p.Ser718Cys)	ATXN7 (S573C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132272	NM_001377405.1(ATXN7):c.2159C>T (p.Ser720Phe)	ATXN7 (S575F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132271	NM_001377405.1(ATXN7):c.2159C>G (p.Ser720Cys)	ATXN7 (S575C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3333254	NM_001377405.1(ATXN7):c.2165C>T (p.Ser722Phe)	ATXN7 (S577F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1284291	NM_001377405.1(ATXN7):c.2170T>A (p.Ser724Thr)	ATXN7 (S579T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 128517	NM_001377405.1(ATXN7):c.2178T>C (p.Ser726=)	ATXN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2487071	NM_001377405.1(ATXN7):c.2230C>T (p.Pro744Ser)	ATXN7 (P744S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132274	NM_001377405.1(ATXN7):c.2239C>G (p.Pro747Ala)	ATXN7 (P602A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809615	NM_001377405.1(ATXN7):c.2245dup (p.Thr749fs)	ATXN7 (T604fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2208220	NM_001377405.1(ATXN7):c.2246C>T (p.Thr749Met)	ATXN7 (T749M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286914	NM_001377405.1(ATXN7):c.2255C>G (p.Ser752Cys)	ATXN7 (S607C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556782	NM_001377405.1(ATXN7):c.2266A>G (p.Ile756Val)	ATXN7 (I756V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2653944	NM_001377405.1(ATXN7):c.2301G>A (p.Ala767=)	ATXN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3132276	NM_001377405.1(ATXN7):c.2308G>C (p.Val770Leu)	ATXN7 (V625L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323335	NM_001377405.1(ATXN7):c.2338C>T (p.Pro780Ser)	ATXN7 (P635S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469902	NM_001377405.1(ATXN7):c.2366A>G (p.Lys789Arg)	ATXN7 (K644R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599198	NM_001377405.1(ATXN7):c.2404C>G (p.Leu802Val)	ATXN7 (L657V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390323	NM_001377405.1(ATXN7):c.2435A>C (p.Asn812Thr)	ATXN7 (N812T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295350	NM_001377405.1(ATXN7):c.2443C>T (p.Pro815Ser)	ATXN7 (P670S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051323	NM_001377405.1(ATXN7):c.2451C>A (p.Asn817Lys)	ATXN7 (N672K +1 more)	Single nucleotide variant (missense variant)	ATXN7-related disorder	GLikely benign
Select item 2672942	NM_001377405.1(ATXN7):c.2459G>A (p.Gly820Asp)	ATXN7 (G675D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1284842	NM_001377405.1(ATXN7):c.2479A>G (p.Thr827Ala)	ATXN7 (T682A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2304188	NM_001377405.1(ATXN7):c.2497A>G (p.Ile833Val)	ATXN7 (I833V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1298305	NM_001377405.1(ATXN7):c.2528C>T (p.Ser843Leu)	ATXN7 (S698L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3333293	NM_001377405.1(ATXN7):c.2536A>T (p.Ile846Phe)	ATXN7 (I701F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 128518	NM_001377405.1(ATXN7):c.2584G>A (p.Val862Met)	ATXN7 (V862M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3132278	NM_001377405.1(ATXN7):c.2630A>G (p.Gln877Arg)	ATXN7 (Q877R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 931863	NM_001377405.1(ATXN7):c.2654_2656del (p.Leu885del)	ATXN7 (L740del +1 more)	Deletion (inframe_deletion)	Spinocerebellar ataxia 7	GBenign
Select item 3132279	NM_001377405.1(ATXN7):c.2661+1181C>T	ATXN7 (S902L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3333246	NM_001377405.1(ATXN7):c.2670A>C (p.Ala890=)	ATXN7 (T913P)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 599471	NM_001377405.1(ATXN7):c.*14C>A	ATXN7 (S920R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 809503	NM_001377405.1(ATXN7):c.*31C>T	ATXN7 (A926V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3062681	GRCh37/hg19 3p14.1(chr3:63951195-63977015)x1	ATXN7	Copy number loss	not specified	GUncertain significance
Select item 562100	NG_008227.1:g.53130CAG[38_130]	ATXN7	Microsatellite	Spinocerebellar ataxia 7	GPathogenic

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Items: 95