ATXN7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
Select item 57136	GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1	ADAMTS9, ADAMTS9-AS1 +106 more	Copy number loss	See cases	GPathogenic
Select item 150515	GRCh38/hg38 3p14.1(chr3:63822831-64433817)x1	ATXN7, C3orf49 +25 more	Copy number loss	See cases	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 2653937	NM_001377405.1(ATXN7):c.37C>T (p.Pro13Ser)	ATXN7, LOC129936979 (P13S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 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 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 626311	NM_001377405.1(ATXN7):c.89AGC[233] (p.Gln39_Pro40insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	ATXN7, LOC108660406 +1 more	Microsatellite (inframe_insertion)	Spinocerebellar ataxia 7	GPathogenic
Select item 402403	NM_001377405.1(ATXN7):c.89AGC[12] (p.Gln38_Gln39dup)	ATXN7, LOC108660406 +1 more	Microsatellite (inframe_insertion)	not specified	GLikely benign
Select item 1328067	NM_001377405.1(ATXN7):c.89AGC[9] (p.Gln39del)	ATXN7, LOC108660406 +1 more (Q39del)	Microsatellite (inframe_deletion)	not specified	GBenign
Select item 2953	NM_000333.4:c.89ACG[7_17]	ATXN7, LOC108660406 +1 more	Microsatellite	Spinocerebellar ataxia 7	GBenign
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 3057278	NM_001377405.1(ATXN7):c.104A>C (p.Gln35Pro)	ATXN7, LOC108660406 +1 more (Q35P)	Single nucleotide variant (missense variant)	ATXN7-related disorder	GLikely benign
Select item 638436	NM_001377405.1(ATXN7):c.112_113insCGCCGC (p.Gln37_Gln38insProPro)	ATXN7, LOC108660406 +1 more	Insertion (inframe_insertion)	Spinocerebellar ataxia 7	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 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 809501	NM_001377405.1(ATXN7):c.116A>C (p.Gln39Pro)	ATXN7, LOC108660406 +1 more (Q39P)	Single nucleotide variant (missense variant)	not provided	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 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 2691398	NM_001377405.1(ATXN7):c.143A>G (p.Gln48Arg)	ATXN7, LOC129936979 (Q48R)	Single nucleotide variant (missense variant)	not specified	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 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 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 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 208954	NM_001377405.1(ATXN7):c.211T>G (p.Ser71Ala)	ATXN7, LOC129936979 (S71A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 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 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 1284420	NM_001377405.1(ATXN7):c.273G>C (p.Leu91=)	ATXN7, LOC129936979	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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)	not provided	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 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	GUncertain significance
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

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