ClinVar for MedGen (Select 156006) - ClinVar - NCBI

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Items: 8

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16915531.	NM_001377405.1(ATXN7):c.2120G>A (p.Arg707His) GRCh37: Chr3:63981618 GRCh38: Chr3:63995942	ATXN7	R562H, R707H	Spinocerebellar ataxia 7	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 12983052.	NM_001377405.1(ATXN7):c.2528C>T (p.Ser843Leu) GRCh37: Chr3:63982026 GRCh38: Chr3:63996350	ATXN7	S698L, S843L	Inborn genetic diseases	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 9318633.	NM_001377405.1(ATXN7):c.2654_2656del (p.Leu885del) GRCh37: Chr3:63982151-63982153 GRCh38: Chr3:63996475-63996477	ATXN7	L740del, L885del	Spinocerebellar ataxia 7	Benign (Nov 16, 2018)	criteria provided, single submitter
Select item 6384364.	NM_001377405.1(ATXN7):c.112_113insCGCCGC (p.Gln37_Gln38insProPro) GRCh37: Chr3:63898384-63898385 GRCh38: Chr3:63912708-63912709	LOC108660406, ATXN7		Spinocerebellar ataxia 7	Uncertain significance (Apr 27, 2019)	criteria provided, single submitter
Select item 6383415.	NM_001377405.1(ATXN7):c.1594G>A (p.Gly532Ser) GRCh37: Chr3:63976447 GRCh38: Chr3:63990771	ATXN7	G532S, G387S	Spinocerebellar ataxia 7	Uncertain significance (Apr 27, 2019)	criteria provided, single submitter
Select item 6263116.	NM_001377405.1(ATXN7):c.89AGC[233] (p.Gln39_Pro40insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) GRCh37: Chr3:63898362 GRCh38: Chr3:63912684-63912685	ATXN7, LOC108660406		Spinocerebellar ataxia 7	Pathogenic (Apr 9, 2019)	criteria provided, single submitter
Select item 5621007.	NG_008227.1:g.53130CAG[(38_130)]	ATXN7		Spinocerebellar ataxia 7	Pathogenic (Sep 1, 1997)	no assertion criteria provided
Select item 29538.	NM_000333.4:c.89ACG[7_17] GRCh37: Chr3:63898362-63898364 GRCh38: Chr3:63912686-63912688	ATXN7, LOC108660406		Spinocerebellar ataxia 7	Benign	no assertion criteria provided