ATXN1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 148200	GRCh38/hg38 6p23-22.3(chr6:14730556-17554091)x1	LOC129995876, LOC129995877 +135 more	Copy number loss	See cases	GLikely pathogenic
Select item 152197	GRCh38/hg38 6p23-22.3(chr6:14958760-18580908)x3	ATXN1, ATXN1-AS1 +162 more	Copy number gain	See cases	GUncertain significance
Select item 2227645	NM_001128164.2(ATXN1):c.2437G>A (p.Val813Ile)	ATXN1 (V813I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316517	NM_001128164.2(ATXN1):c.2420T>C (p.Ile807Thr)	ATXN1 (I807T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339662	NM_001128164.2(ATXN1):c.2417G>T (p.Cys806Phe)	ATXN1 (C806F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301162	NM_001128164.2(ATXN1):c.2339G>A (p.Arg780His)	ATXN1 (R780H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132186	NM_001128164.2(ATXN1):c.2269T>C (p.Phe757Leu)	ATXN1 (F757L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 128499	NM_001128164.2(ATXN1):c.2257C>T (p.Pro753Ser)	ATXN1 (P753S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2656247	NM_001128164.2(ATXN1):c.2214C>T (p.Leu738=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2278810	NM_001128164.2(ATXN1):c.2170G>A (p.Ala724Thr)	ATXN1 (A724T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332845	NM_001128164.2(ATXN1):c.2152G>A (p.Gly718Ser)	ATXN1 (G718S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 522259	NM_001128164.2(ATXN1):c.2150C>T (p.Ala717Val)	ATXN1 (A717V)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 1 +1 more	GLikely benign
Select item 809880	NM_001128164.2(ATXN1):c.2143G>A (p.Gly715Ser)	ATXN1 (G715S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1711919	NM_001128164.2(ATXN1):c.2076del (p.Asn692fs)	ATXN1 (N692fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3037222	NM_001128164.2(ATXN1):c.2031A>G (p.Ser677=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	ATXN1-related disorder	GBenign
Select item 3132185	NM_001128164.2(ATXN1):c.1924G>A (p.Val642Ile)	ATXN1 (V642I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1304636	NM_001128164.2(ATXN1):c.1917+14G>T	ATXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3042386	NM_001128164.2(ATXN1):c.1871C>T (p.Pro624Leu)	ATXN1 (P624L)	Single nucleotide variant (missense variant +1 more)	ATXN1-related disorder	GLikely benign
Select item 2541532	NM_001128164.2(ATXN1):c.1843G>A (p.Val615Ile)	ATXN1 (V615I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 932128	NM_001128164.2(ATXN1):c.1804G>T (p.Ala602Ser)	ATXN1 (A602S)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 1	GUncertain significance
Select item 3364296	NM_001128164.2(ATXN1):c.1748C>T (p.Ala583Val)	ATXN1 (A583V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2656248	NM_001128164.2(ATXN1):c.1695G>A (p.Ala565=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2230043	NM_001128164.2(ATXN1):c.1694C>T (p.Ala565Val)	ATXN1 (A565V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332866	NM_001128164.2(ATXN1):c.1691C>A (p.Ala564Glu)	ATXN1 (A564E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 809881	NM_001128164.2(ATXN1):c.1678G>A (p.Val560Met)	ATXN1 (V560M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3132184	NM_001128164.2(ATXN1):c.1670T>C (p.Val557Ala)	ATXN1 (V557A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 451257	NM_001128164.2(ATXN1):c.1651C>T (p.Gln551Ter)	ATXN1 (Q551*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3032421	NM_001128164.2(ATXN1):c.1635A>G (p.Pro545=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	ATXN1-related disorder	GLikely benign
Select item 3332835	NM_001128164.2(ATXN1):c.1633C>T (p.Pro545Ser)	ATXN1 (P545S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1676010	NM_001128164.2(ATXN1):c.1575C>T (p.Thr525=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1048085	NM_001128164.2(ATXN1):c.1563G>C (p.Thr521=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	Tip-toe gait	GUncertain significance
Select item 3132183	NM_001128164.2(ATXN1):c.1505C>T (p.Ser502Leu)	ATXN1 (S502L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3057574	NM_001128164.2(ATXN1):c.1503G>A (p.Ala501=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	ATXN1-related disorder	GLikely benign
Select item 2688657	NM_001128164.2(ATXN1):c.1502C>T (p.Ala501Val)	ATXN1 (A501V)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 1	GUncertain significance
Select item 3132182	NM_001128164.2(ATXN1):c.1468C>G (p.Leu490Val)	ATXN1 (L490V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2578409	NM_001128164.2(ATXN1):c.1405C>A (p.Gln469Lys)	ATXN1 (Q469K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3353075	NM_001128164.2(ATXN1):c.1398C>T (p.Ser466=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	ATXN1-related disorder	GLikely benign
Select item 3132181	NM_001128164.2(ATXN1):c.1375C>A (p.Pro459Thr)	ATXN1 (P459T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 128498	NM_001128164.2(ATXN1):c.1212A>G (p.Glu404=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2615833	NM_001128164.2(ATXN1):c.1198G>A (p.Ala400Thr)	ATXN1 (A400T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379954	NM_001128164.2(ATXN1):c.1174G>A (p.Ala392Thr)	ATXN1 (A392T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3034311	NM_001128164.2(ATXN1):c.1170G>A (p.Thr390=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	ATXN1-related disorder	GBenign
Select item 2547623	NM_001128164.2(ATXN1):c.1144G>A (p.Val382Met)	ATXN1 (V382M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3024947	NM_001128164.2(ATXN1):c.1128G>A (p.Ser376=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2219490	NM_001128164.2(ATXN1):c.1127C>T (p.Ser376Leu)	ATXN1 (S376L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282638	NM_001128164.2(ATXN1):c.1112G>A (p.Ser371Asn)	ATXN1 (S371N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380861	NM_001128164.2(ATXN1):c.1073C>G (p.Ser358Cys)	ATXN1 (S358C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1311065	NM_001128164.2(ATXN1):c.1068C>A (p.Tyr356Ter)	ATXN1 (Y356*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2303738	NM_001128164.2(ATXN1):c.1033G>C (p.Gly345Arg)	ATXN1 (G345R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3048005	NM_001128164.2(ATXN1):c.1024C>T (p.Leu342=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	ATXN1-related disorder	GLikely benign
Select item 2611606	NM_001128164.2(ATXN1):c.1009C>T (p.Pro337Ser)	ATXN1 (P337S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570503	NM_001128164.2(ATXN1):c.1004G>A (p.Gly335Glu)	ATXN1 (G335E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332807	NM_001128164.2(ATXN1):c.1003G>A (p.Gly335Arg)	ATXN1 (G335R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332856	NM_001128164.2(ATXN1):c.998G>T (p.Arg333Leu)	ATXN1 (R333L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2656249	NM_001128164.2(ATXN1):c.995G>A (p.Arg332Gln)	ATXN1 (R332Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 128506	NM_001128164.2(ATXN1):c.927T>G (p.Ala309=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 128505	NM_001128164.2(ATXN1):c.927T>C (p.Ala309=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2226457	NM_001128164.2(ATXN1):c.853C>G (p.Pro285Ala)	ATXN1 (P285A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132193	NM_001128164.2(ATXN1):c.781G>A (p.Ala261Thr)	ATXN1 (A261T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266081	NM_001128164.2(ATXN1):c.772G>A (p.Gly258Ser)	ATXN1 (G258S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1678655	NM_001128164.2(ATXN1):c.772G>T (p.Gly258Cys)	ATXN1 (G258C)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 1 +1 more	GBenign/Likely benign
Select item 2591673	NM_001128164.2(ATXN1):c.719C>A (p.Pro240Gln)	ATXN1 (P240Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404970	NM_001128164.2(ATXN1):c.715C>A (p.Pro239Thr)	ATXN1 (P239T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132192	NM_001128164.2(ATXN1):c.712T>A (p.Ser238Thr)	ATXN1 (S238T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132191	NM_001128164.2(ATXN1):c.692C>T (p.Pro231Leu)	ATXN1 (P231L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1174970	NM_001128164.2(ATXN1):c.636GCA[15] (p.Gln225dup)	ATXN1, LOC108663993	Microsatellite (inframe_insertion +1 more)	not specified +1 more	GBenign/Likely benign
Select item 522332	NM_001128164.2(ATXN1):c.636GCA[16] (p.Gln224_Gln225dup)	ATXN1, LOC108663993	Microsatellite (inframe_insertion +1 more)	Spinocerebellar ataxia type 1	GBenign
Select item 1206220	NM_001128164.2(ATXN1):c.636GCA[12] (p.Gln224_Gln225del)	ATXN1, LOC108663993	Microsatellite (inframe_deletion +1 more)	ATXN1-related disorder +1 more	GBenign/Likely benign
Select item 128504	NM_001128164.2(ATXN1):c.675G>C (p.Gln225His)	ATXN1, LOC108663993 (Q225H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3037144	NM_001128164.2(ATXN1):c.647_648insTCA (p.Gln215_Gln216insHis)	ATXN1, LOC108663993	Insertion (3 prime UTR variant +1 more)	ATXN1-related disorder	GBenign
Select item 3041891	NM_001128164.2(ATXN1):c.644_645insTCA (p.Gln214_Gln215insHis)	ATXN1, LOC108663993	Insertion (3 prime UTR variant +1 more)	ATXN1-related disorder	GBenign
Select item 128503	NM_001128164.2(ATXN1):c.645G>T (p.Gln215His)	ATXN1, LOC108663993 (Q215H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2656250	NM_001128164.2(ATXN1):c.627_644del (p.His209_Gln214del)	ATXN1, LOC108663993	Deletion (inframe_deletion +1 more)	not provided	GBenign
Select item 3064693	NM_001128164.2(ATXN1):c.641_642insTCAGCA (p.Gln213_Gln214insHisGln)	ATXN1, LOC108663993	Insertion (inframe_insertion +1 more)	Spinocerebellar ataxia type 1	GUncertain significance
Select item 3047562	NM_001128164.2(ATXN1):c.627TCAGCA[3] (p.Gln212_Gln213insHisGln)	ATXN1, LOC108663993	Microsatellite (inframe_indel +1 more)	ATXN1-related disorder	GLikely benign
Select item 3038334	NM_001128164.2(ATXN1):c.638_639insTCA (p.Gln212_Gln213insHis)	ATXN1, LOC108663993	Insertion (inframe_insertion +1 more)	ATXN1-related disorder	GBenign
Select item 2656251	NM_001128164.2(ATXN1):c.638_639insTCAGCAGCA (p.Gln212_Gln213insHisGlnGln)	ATXN1, LOC108663993	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 128502	NM_001128164.2(ATXN1):c.639G>T (p.Gln213His)	ATXN1, LOC108663993 (Q213H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3055471	NM_001128164.2(ATXN1):c.627TCAGCA[1] (p.209HQ[1])	ATXN1, LOC108663993	Microsatellite (inframe_indel +1 more)	ATXN1-related disorder	GBenign
Select item 210507	NM_001128164.2(ATXN1):c.636G>T (p.Gln212His)	ATXN1, LOC108663993 (Q212H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 3132190	NM_001128164.2(ATXN1):c.635A>C (p.Gln212Pro)	LOC108663993, ATXN1 (Q212P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 210506	NM_001128164.2(ATXN1):c.633_635del (p.His211del)	ATXN1, LOC108663993 (H211del)	Deletion (inframe_deletion +1 more)	not specified +1 more	GUncertain significance
Select item 3050836	NM_001128164.2(ATXN1):c.630_632dup (p.Gln210_His211insGln)	ATXN1, LOC108663993	Duplication (3 prime UTR variant +1 more)	ATXN1-related disorder	GBenign
Select item 128501	NM_001128164.2(ATXN1):c.633T>G (p.His211Gln)	ATXN1, LOC108663993 (H211Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 210505	NM_001128164.2(ATXN1):c.630G>T (p.Gln210His)	LOC108663993, ATXN1 (Q210H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3060614	NM_001128164.2(ATXN1):c.588GCA[17] (p.Gln208_His209insGlnGlnGlnGln)	ATXN1, LOC108663993	Microsatellite (inframe_indel +1 more)	ATXN1-related disorder	GLikely benign
Select item 3059363	NM_001128164.2(ATXN1):c.588GCA[16] (p.Gln208_His209insGlnGlnGln)	ATXN1, LOC108663993	Microsatellite (inframe_indel +1 more)	ATXN1-related disorder	GLikely benign
Select item 3057230	NM_001128164.2(ATXN1):c.588GCA[15] (p.Gln208_His209insGlnGln)	ATXN1, LOC108663993	Microsatellite (inframe_indel +2 more)	ATXN1-related disorder	GLikely benign
Select item 1050673	NM_001128164.2(ATXN1):c.627T>G (p.His209Gln)	ATXN1, LOC108663993 (H209Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 218439	NM_001128164.2(ATXN1):c.588GCA[14] (p.Gln208dup)	ATXN1, LOC108663993	Microsatellite (inframe_insertion +1 more)	not specified +1 more	GBenign/Likely benign
Select item 210503	NM_001128164.2(ATXN1):c.588GCA[12] (p.Gln208del)	LOC108663993, ATXN1 (Q208del)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
Select item 2656252	NM_001128164.2(ATXN1):c.623_624insTCA (p.Gln207_Gln208insHis)	LOC108663993, ATXN1	Insertion (inframe_insertion +1 more)	not provided	GBenign
Select item 210504	NM_001128164.2(ATXN1):c.624G>T (p.Gln208His)	LOC108663993, ATXN1 (Q208H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 8071	NM_000332.4(ATXN1):c.589CAG[36_38] (p.Gln208[36_38])	ATXN1, LOC108663993	Microsatellite	Spinocerebellar ataxia type 1	GPathogenic
Select item 210502	NM_001128164.2(ATXN1):c.621G>T (p.Gln207His)	LOC108663993, ATXN1 (Q207H)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 1 +1 more	GConflicting classifications of pathogenicity

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