ClinVar for MedGen (Select 155703) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3780669	NC_000001.11:g.16001459_16001461dup		Duplication	Spinocerebellar ataxia type 1	GUncertain significance
Select item 3780665	NC_000001.11:g.16001411_16001413dup		Duplication	Spinocerebellar ataxia type 1	GLikely benign
Select item 3780662	NC_000001.11:g.16001459_16001461del		Deletion	Spinocerebellar ataxia type 1	GLikely benign
Select item 3780659	NC_000001.11:g.16001455_16001460dup		Duplication	Spinocerebellar ataxia type 1	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 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	GConflicting classifications of pathogenicity
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)	Spinocerebellar ataxia type 1 +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)	not provided +2 more	GLikely benign
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 210507	NM_001128164.2(ATXN1):c.636G>T (p.Gln212His)	ATXN1, LOC108663993 (Q212H)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 1 +3 more	GUncertain significance
Select item 210505	NM_001128164.2(ATXN1):c.630G>T (p.Gln210His)	ATXN1, LOC108663993 (Q210H)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 1 +2 more	GUncertain significance
Select item 210502	NM_001128164.2(ATXN1):c.621G>T (p.Gln207His)	ATXN1, LOC108663993 (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