ClinVar for MedGen (Select 155703) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 931497	NM_001128164.2(ATXN1):c.609G>T (p.Gln203His)	ATXN1, LOC108663993 (Q203H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 218439	NM_001128164.2(ATXN1):c.588GCA[14] (p.Gln208dup)	ATXN1, LOC108663993	Microsatellite (inframe_insertion +1 more)	Spinocerebellar ataxia type 1 +1 more	GBenign/Likely benign
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
Select item 8071	NM_000332.4(ATXN1):c.589CAG[36_38] (p.Gln208[36_38])	ATXN1, LOC108663993	Microsatellite	Spinocerebellar ataxia type 1	GPathogenic