Total 11 pathogenic variants reported for Spinocerebellar ataxia type 42

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His)	SNV Germline	Chr17:50617560	Pathogenic	Spinocerebellar ataxia type 42 CACNA1G-related disorder Spinocerebellar ataxia type 42 Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA065184	rs_755221106	8 SubmittersRCV000207440 RCV000509294 RCV000763013 RCV001267950
NM_018896.5(CACNA1G):c.1931G>A (p.Cys644Tyr)	SNV Germline	Chr17:50578194	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 42 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200203979	4 SubmittersRCV000785149 RCV000898963 RCV002535722
NM_018896.5(CACNA1G):c.632T>C (p.Leu211Pro)	SNV Germline	Chr17:50571923	Likely pathogenic	Spinocerebellar ataxia type 42	Criteria Provided Single Submitter		rs_2039524843	1 SubmittersRCV001251141
NM_018896.5(CACNA1G):c.481A>T (p.Ile161Phe)	SNV Unknown	Chr17:50569291	Likely pathogenic	Spinocerebellar ataxia type 42	Criteria Provided Single Submitter		rs_368561457	1 SubmittersRCV001647192
NM_018896.5(CACNA1G):c.3835G>A (p.Asp1279Asn)	SNV Unknown	Chr17:50601094	Likely pathogenic	Spinocerebellar ataxia type 42	Criteria Provided Single Submitter		rs_2145795264	1 SubmittersRCV001647194
NM_018896.5(CACNA1G):c.1654T>C (p.Ser552Pro)	SNV Germline	Chr17:50576056	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 42 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_527612343	3 SubmittersRCV001332287 RCV002546547 RCV004035735
NM_018896.5(CACNA1G):c.2407A>C (p.Ile803Leu)	SNV Germline	Chr17:50590576	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 42 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_747028553	3 SubmittersRCV001336457 RCV002546779 RCV003120564
NM_018896.5(CACNA1G):c.2810C>T (p.Ser937Leu)	SNV Germline	Chr17:50591992	Likely pathogenic	Spinocerebellar ataxia type 42	Criteria Provided Single Submitter		rs_1250995341	1 SubmittersRCV001614476
NM_018896.5(CACNA1G):c.2014C>T (p.Arg672Trp)	SNV Germline	Chr17:50578277	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia type 42	Criteria Provided Conflicting Classifications			3 SubmittersRCV002966425 RCV003994477
NM_018896.5(CACNA1G):c.4593G>A (p.Met1531Ile)	SNV Germline	Chr17:50607907	Likely pathogenic	Spinocerebellar ataxia type 42	Criteria Provided Single Submitter			1 SubmittersRCV003320010