Total 20 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
Spinocerebellar ataxia type 42
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
CACNA1G-related disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA065184 rs_755221106

8 SubmittersRCV000207440RCV000763013RCV000509294RCV001267950
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
 CA8652284 rs_200203979

4 SubmittersRCV000785149RCV000898963RCV002535722
NM_018896.5(CACNA1G):c.632T>C (p.Leu211Pro) SNV
Germline		 Chr17:50571923 Likely pathogenic Spinocerebellar ataxia type 42 Criteria Provided
Single Submitter
 CA400230716 rs_2039524843

1 SubmittersRCV001251141
NM_018896.5(CACNA1G):c.1888A>T (p.Ser630Cys) SNV
Germline		 Chr17:50576290 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42
Condition: not provided
Epilepsy		 Criteria Provided
Conflicting Classifications
 CA8652261 rs_779077930

4 SubmittersRCV001254615RCV003718389RCV005626375
NM_018896.5(CACNA1G):c.3197C>T (p.Ser1066Leu) SNV
Germline		 Chr17:50596862 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
Spinocerebellar ataxia type 42		 Criteria Provided
Conflicting Classifications
 CA8652659 rs_577659325

2 SubmittersRCV003718392RCV004799464
NM_018896.5(CACNA1G):c.481A>T (p.Ile161Phe) SNV
Germline		 Chr17:50569291 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8651957 rs_368561457

2 SubmittersRCV001647192RCV004727150
NM_018896.5(CACNA1G):c.3835G>A (p.Asp1279Asn) SNV
Unknown		 Chr17:50601094 Likely pathogenic Spinocerebellar ataxia type 42 Criteria Provided
Single Submitter
 CA400254760 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
 CA8652217 rs_527612343

3 SubmittersRCV001332287RCV002546547RCV004035735
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
 CA8652405 rs_747028553

3 SubmittersRCV001336457RCV002546779RCV003120564
NM_018896.5(CACNA1G):c.2810C>T (p.Ser937Leu) SNV
Germline		 Chr17:50591992 Likely pathogenic Spinocerebellar ataxia type 42 Criteria Provided
Single Submitter
 CA400249847 rs_1250995341

1 SubmittersRCV001614476
NM_018896.5(CACNA1G):c.2131C>T (p.Arg711Trp) SNV
Germline		 Chr17:50578394 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8652340 rs_2301833

2 SubmittersRCV002289442RCV005535324
NM_018896.5(CACNA1G):c.865C>T (p.Arg289Cys) SNV
Germline		 Chr17:50572672 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia type 42		 Criteria Provided
Conflicting Classifications
 CA8652051 rs_761241506

4 SubmittersRCV003121290RCV004244616RCV005356352
NM_018896.5(CACNA1G):c.5776C>T (p.Pro1926Ser) SNV
Germline		 Chr17:50619003 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 42		 Criteria Provided
Conflicting Classifications
 CA8653463 rs_541541250

2 SubmittersRCV002909585RCV005356217
NM_018896.5(CACNA1G):c.2014C>T (p.Arg672Trp) SNV
Germline		 Chr17:50578277 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 42
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8652298 rs_747347699

4 SubmittersRCV002966425RCV003994477RCV004966222
NM_018896.5(CACNA1G):c.4593G>A (p.Met1531Ile) SNV
Germline		 Chr17:50607907 Likely pathogenic Spinocerebellar ataxia type 42 Criteria Provided
Single Submitter
 CA400258883 rs_2545574866

1 SubmittersRCV003320010
NM_018896.5(CACNA1G):c.3629G>A (p.Arg1210Gln) SNV
Germline		 Chr17:50599798 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 42		 Criteria Provided
Conflicting Classifications
 CA8652763 rs_762314651

2 SubmittersRCV003731293RCV005356517
NM_018896.5(CACNA1G):c.4591A>T (p.Met1531Leu) SNV
Germline		 Chr17:50607905 Likely pathogenic Spinocerebellar ataxia type 42 No Assertion Criteria Provided

1 SubmittersRCV004767624
NM_018896.5(CACNA1G):c.4931A>T (p.Lys1644Met) SNV
Germline		 Chr17:50616294 Likely pathogenic Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
Spinocerebellar ataxia type 42		 Criteria Provided
Single Submitter

1 SubmittersRCV004797465
NM_018896.5(CACNA1G):c.4180C>T (p.Arg1394Trp) SNV
Germline		 Chr17:50604165 Likely pathogenic Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
Spinocerebellar ataxia type 42		 Criteria Provided
Single Submitter

1 SubmittersRCV004795549