"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ATXN1"[gen - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2656248	NM_001128164.2(ATXN1):c.1695G>A (p.Ala565=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 1676010	NM_001128164.2(ATXN1):c.1575C>T (p.Thr525=)	ATXN1	Single nucleotide variant (synonymous variant +1 more)	not provided	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 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 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
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 2656251	NM_001128164.2(ATXN1):c.638_639insTCAGCAGCA (p.Gln212_Gln213insHisGlnGln)	ATXN1, LOC108663993	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 2656252	NM_001128164.2(ATXN1):c.623_624insTCA (p.Gln207_Gln208insHis)	ATXN1, LOC108663993	Insertion (inframe_insertion +1 more)	not provided	GBenign
Select item 1284911	NM_001128164.2(ATXN1):c.556A>T (p.Ser186Cys)	ATXN1 (Q176L +1 more)	Single nucleotide variant (missense variant)	ATXN1-related condition +1 more	GLikely benign
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 1049708	NM_001128164.2(ATXN1):c.95C>G (p.Thr32Ser)	ATXN1 (T32S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign