Related gene-specific medical variations for Gene (Select 25814) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065797	NM_013236.4(ATXN10):c.647+1G>A	ATXN10	Single nucleotide variant (splice donor variant)	Spinocerebellar ataxia type 10	GUncertain significance
Select item 2252031	NM_013236.4(ATXN10):c.79C>T (p.Arg27Cys)	ATXN10, LOC130067689 (R27C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1328012	NM_013236.4(ATXN10):c.76C>T (p.Leu26=)	ATXN10, LOC130067689	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1298306	NM_013236.4(ATXN10):c.404G>T (p.Gly135Val)	ATXN10 (G135V +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 10	GUncertain significance
Select item 1273409	NM_013236.4(ATXN10):c.116+85G>A	ATXN10, LOC130067689	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 930719	NM_013236.4(ATXN10):c.116+4A>T	ATXN10, LOC130067689	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 10	GUncertain significance
Select item 930239	NM_013236.4(ATXN10):c.13A>G (p.Arg5Gly)	ATXN10 (R5G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 10	GUncertain significance
Select item 376826	NM_013236.4(ATXN10):c.948dup (p.Thr317fs)	ATXN10 (T253fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 39007	NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[280]	LOC107181287, ATXN10 +1 more	Microsatellite (intron variant)	Spinocerebellar ataxia type 10	Gnot provided
Select item 39006	NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[850]	ATXN10, LOC107181287 +1 more	Microsatellite (intron variant)	Spinocerebellar ataxia type 10	GPathogenic
Select item 39005	NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(800_4500)	ATXN10, LOC107181287 +1 more	Microsatellite	Spinocerebellar ataxia type 10	GPathogenic
Select item 39004	NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(400_760)	ATXN10, LOC107181287 +1 more	Microsatellite	Spinocerebellar ataxia type 10	GPathogenic
Select item 39003	NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(360_370)	ATXN10, LOC107181287 +1 more	Microsatellite	Spinocerebellar ataxia type 10	GPathogenic
Select item 999	NM_013236.5(ATXN10):c.1173+54822_1173ATTCT[10_32]	ATXN10, LOC107181287 +1 more	Microsatellite	Spinocerebellar ataxia type 10	GBenign