ClinVar for Gene (Select 6314) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 3333266	NM_001377405.1(ATXN7):c.166C>T (p.Arg56Trp)	ATXN7, LOC129936979 (R56W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3333259	NM_001377405.1(ATXN7):c.288T>A (p.Asn96Lys)	ATXN7, LOC129936979 (N96K)	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 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 3325944	NM_025075.4(THOC7):c.18C>A (p.Asp6Glu)	ATXN7, THOC7 (D6E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 3132281	NM_001377405.1(ATXN7):c.56C>A (p.Ala19Glu)	ATXN7, LOC129936979 (A19E)	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 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 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 3132277	NM_001377405.1(ATXN7):c.248C>T (p.Pro83Leu)	ATXN7, LOC129936979 (P83L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3132275	NM_001377405.1(ATXN7):c.223A>T (p.Met75Leu)	ATXN7, LOC129936979 (M75L)	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 3132273	NM_001377405.1(ATXN7):c.217G>A (p.Ala73Thr)	ATXN7, LOC129936979 (A73T)	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 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 3132269	NM_001377405.1(ATXN7):c.191G>C (p.Gly64Ala)	ATXN7, LOC129936979 (G64A)	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 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 3132266	NM_001377405.1(ATXN7):c.181G>C (p.Glu61Gln)	ATXN7, LOC129936979 (E61Q)	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 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 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 3062713	GRCh37/hg19 3p14.2-13(chr3:62188399-71663248)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not specified	GPathogenic
Select item 3062681	GRCh37/hg19 3p14.1(chr3:63951195-63977015)x1	ATXN7	Copy number loss	not specified	GUncertain significance
Select item 3057278	NM_001377405.1(ATXN7):c.104A>C (p.Gln35Pro)	LOC129936979, ATXN7 +1 more (Q35P)	Single nucleotide variant (missense variant)	ATXN7-related disorder	GLikely benign
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 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 3051245	NM_001377405.1(ATXN7):c.1659G>A (p.Lys553=)	ATXN7	Single nucleotide variant (synonymous variant)	ATXN7-related disorder	GBenign
Select item 3046008	NM_001377405.1(ATXN7):c.54G>C (p.Ala18=)	ATXN7, LOC129936979	Single nucleotide variant (synonymous variant)	ATXN7-related disorder	GLikely benign
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 3033528	NM_001377405.1(ATXN7):c.916A>T (p.Ile306Phe)	ATXN7 (I161F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3033271	NM_001377405.1(ATXN7):c.89AGC[13] (p.Gln39_Pro40insGlnGlnGln)	ATXN7, LOC108660406 +1 more	Microsatellite (inframe_indel)	ATXN7-related disorder	GLikely benign
Select item 2691398	NM_001377405.1(ATXN7):c.143A>G (p.Gln48Arg)	ATXN7, LOC129936979 (Q48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685083	GRCh37/hg19 3p14.1(chr3:63842338-63918773)x1	ATXN7, THOC7	Copy number loss	not provided	GUncertain significance
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 2653944	NM_001377405.1(ATXN7):c.2301G>A (p.Ala767=)	ATXN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2653942	NM_001377405.1(ATXN7):c.500-8G>A	ATXN7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2653941	NM_001377405.1(ATXN7):c.117GCC[4] (p.Pro43_Gln44insPro)	ATXN7, LOC108660406 +1 more	Microsatellite (inframe_indel)	not provided	GBenign
Select item 2653940	NM_001377405.1(ATXN7):c.118_119insAGCCGC (p.Gln39_Pro40insGlnPro)	ATXN7, LOC108660406 +1 more	Insertion (inframe_indel)	not provided	GLikely benign
Select item 2653939	NM_001377405.1(ATXN7):c.89AGC[15] (p.Gln39_Pro40insGlnGlnGlnGlnGln)	ATXN7, LOC108660406 +1 more	Microsatellite (inframe_indel)	not provided	GBenign
Select item 2653938	NM_001377405.1(ATXN7):c.89AGC[14] (p.Gln39_Pro40insGlnGlnGlnGln)	ATXN7, LOC108660406 +1 more	Microsatellite (inframe_indel)	not provided	GBenign
Select item 2653937	NM_001377405.1(ATXN7):c.37C>T (p.Pro13Ser)	ATXN7, LOC129936979 (P13S)	Single nucleotide variant (missense variant)	not provided	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 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 2602666	NM_001377405.1(ATXN7):c.124C>T (p.Pro42Ser)	ATXN7, LOC129936979 (P42S)	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 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 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 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 2555307	NM_001377405.1(ATXN7):c.437A>G (p.Tyr146Cys)	ATXN7 (Y146C)	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 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 2494340	NM_001377405.1(ATXN7):c.127C>G (p.Pro43Ala)	ATXN7, LOC129936979 (P43A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488934	NM_001377405.1(ATXN7):c.179C>G (p.Pro60Arg)	ATXN7, LOC129936979 (P60R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 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 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 2391601	NM_001377405.1(ATXN7):c.101A>C (p.Gln34Pro)	ATXN7, LOC108660406 +1 more (Q34P)	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 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 2388681	NM_001377405.1(ATXN7):c.403A>G (p.Ile135Val)	ATXN7 (I135V)	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 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 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 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 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 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 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 2334908	NM_001377405.1(ATXN7):c.111G>C (p.Gln37His)	ATXN7, LOC108660406 +1 more (Q37H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330822	NM_001377405.1(ATXN7):c.230C>G (p.Thr77Arg)	ATXN7, LOC129936979 (T77R)	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 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 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 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 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 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 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 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 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 2273048	NM_001377405.1(ATXN7):c.79G>A (p.Ala27Thr)	ATXN7, LOC129936979 (A27T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2222362	NM_001377405.1(ATXN7):c.980A>G (p.Asn327Ser)	ATXN7 (N182S +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

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