ClinVar for Gene (Select 6310) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 3332825	NM_001128164.2(ATXN1):c.190G>A (p.Gly64Arg)	ATXN1 (G64R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332816	NM_001128164.2(ATXN1):c.583G>A (p.Ala195Thr)	ATXN1 (A195T +1 more)	Single nucleotide variant (missense variant)	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 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 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 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 3132189	NM_001128164.2(ATXN1):c.454G>A (p.Ala152Thr)	ATXN1 (A152T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132188	NM_001128164.2(ATXN1):c.296C>G (p.Ala99Gly)	ATXN1 (A99G)	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 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 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 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 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 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 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 3062894	GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1	ATXN1, CD83 +13 more	Copy number loss	not specified	GPathogenic
Select item 3062889	GRCh37/hg19 6p22.3(chr6:16445707-16860111)x3	ATXN1	Copy number gain	not specified	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 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 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 3055471	NM_001128164.2(ATXN1):c.627TCAGCA[1] (p.209HQ[1])	ATXN1, LOC108663993	Microsatellite (inframe_indel +1 more)	ATXN1-related disorder	GBenign
Select item 3052634	NM_001128164.2(ATXN1):c.318C>T (p.Tyr106=)	ATXN1 (R97C)	Single nucleotide variant (synonymous variant +1 more)	ATXN1-related disorder	GLikely benign
Select item 3051650	NM_001128164.2(ATXN1):c.302C>T (p.Thr101Met)	ATXN1 (T101M)	Single nucleotide variant (missense variant +1 more)	ATXN1-related disorder	GLikely benign
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 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 3047579	NM_001128164.2(ATXN1):c.570G>A (p.Thr190=)	ATXN1 (A181T)	Single nucleotide variant (synonymous variant +1 more)	ATXN1-related disorder	GLikely benign
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 3044337	NM_001128164.2(ATXN1):c.158G>A (p.Arg53Gln)	ATXN1 (R53Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 3038334	NM_001128164.2(ATXN1):c.638_639insTCA (p.Gln212_Gln213insHis)	ATXN1, LOC108663993	Insertion (inframe_insertion +1 more)	ATXN1-related disorder	GBenign
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 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 3034311	NM_001128164.2(ATXN1):c.1170G>A (p.Thr390=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	ATXN1-related disorder	GBenign
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 3024947	NM_001128164.2(ATXN1):c.1128G>A (p.Ser376=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	not provided	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 2656253	NM_001128164.2(ATXN1):c.267G>T (p.Pro89=)	ATXN1 (A80S)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2656251	NM_001128164.2(ATXN1):c.638_639insTCAGCAGCA (p.Gln212_Gln213insHisGlnGln)	ATXN1, LOC108663993	Microsatellite (inframe_insertion +1 more)	not provided	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 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 2656248	NM_001128164.2(ATXN1):c.1695G>A (p.Ala565=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 2604304	NM_001128164.2(ATXN1):c.406A>G (p.Ser136Gly)	ATXN1 (Q126R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 2554979	NM_001128164.2(ATXN1):c.606G>T (p.Gln202His)	ATXN1, LOC108663993 (Q202H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 2526382	NM_001128164.2(ATXN1):c.603G>T (p.Gln201His)	ATXN1, LOC108663993 (Q201H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521974	NM_001128164.2(ATXN1):c.140C>T (p.Pro47Leu)	ATXN1 (P47L)	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 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 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 2342719	NM_001128164.2(ATXN1):c.274G>A (p.Ala92Thr)	ATXN1 (A92T +1 more)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 2270138	NM_001128164.2(ATXN1):c.572C>T (p.Pro191Leu)	ATXN1 (P191L)	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 2261457	NM_001128164.2(ATXN1):c.612G>T (p.Gln204His)	ATXN1, LOC108663993 (Q204H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248226	NM_001128164.2(ATXN1):c.512G>A (p.Arg171His)	ATXN1 (R171H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246272	NM_001128164.2(ATXN1):c.314C>T (p.Ala105Val)	ATXN1 (A105V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
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 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 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 2222788	NM_001128164.2(ATXN1):c.618G>T (p.Gln206His)	ATXN1, LOC108663993 (Q206H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 1809371	GRCh37/hg19 6p22.3(chr6:16445708-16860111)x3	ATXN1	Copy number gain	not provided	GUncertain significance
Select item 1801395	NM_001128164.2(ATXN1):c.-160-39282_-160-39238del	ATXN1	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1711919	NM_001128164.2(ATXN1):c.2076del (p.Asn692fs)	ATXN1 (N692fs)	Deletion (frameshift variant +1 more)	not provided	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 1676010	NM_001128164.2(ATXN1):c.1575C>T (p.Thr525=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1527227	GRCh37/hg19 6p22.3(chr6:16568082-17047673)	ATXN1	Copy number gain	not specified	GUncertain significance
Select item 1527225	GRCh37/hg19 6p22.3(chr6:16348584-16559316)	ATXN1	Copy number loss	not specified	GLikely pathogenic
Select item 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
Select item 1340906	GRCh37/hg19 6p22.3(chr6:16441703-16871298)x3	ATXN1	Copy number gain	not provided	GUncertain significance
Select item 1340808	GRCh37/hg19 6p22.3(chr6:16572172-17047673)x3	ATXN1	Copy number gain	not provided	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 1304636	NM_001128164.2(ATXN1):c.1917+14G>T	ATXN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284911	NM_001128164.2(ATXN1):c.556A>T (p.Ser186Cys)	ATXN1 (Q176L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1174970	NM_001128164.2(ATXN1):c.636GCA[15] (p.Gln225dup)	ATXN1, LOC108663993	Microsatellite (inframe_insertion +1 more)	not specified +1 more	GBenign/Likely benign

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