Total 7 pathogenic variants reported for Spinocerebellar ataxia type 21

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)	SNV Germline	Chr1:1535372	Pathogenic/Likely pathogenic	Spinocerebellar ataxia type 21 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA272844	rs_606231451	12 SubmittersRCV000148344 RCV000322616
NM_001114748.2(TMEM240):c.489C>G (p.Tyr163Ter)	SNV Germline	Chr1:1535392	Pathogenic	Spinocerebellar ataxia type 21	No Assertion Criteria Provided	CA272845	rs_606231452	1 SubmittersRCV000148345
NM_001114748.2(TMEM240):c.239C>T (p.Thr80Met)	SNV Germline	Chr1:1535723	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 21 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA272848	rs_606231454	5 SubmittersRCV000148347 RCV003493461 RCV003546479
NM_001114748.2(TMEM240):c.511C>T (p.Arg171Trp)	SNV Germline	Chr1:1535370	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 21 Neurodevelopmental disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA272849	rs_606231455	3 SubmittersRCV000148348 RCV001374896 RCV002514854
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg)	SNV Germline	Chr1:1535766	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Spinocerebellar ataxia type 21	Criteria Provided Conflicting Classifications	CA16042311	rs_1057518011	6 SubmittersRCV000413958 RCV001267568 RCV001542542
NM_001114748.2(TMEM240):c.343G>A (p.Val115Met)	SNV Germline	Chr1:1535619	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 21 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA16796850	rs_1045410944	2 SubmittersRCV000626226 RCV002529783
NM_001114748.2(TMEM240):c.419T>A (p.Leu140Gln)	SNV Unknown	Chr1:1535462	Likely pathogenic	Spinocerebellar ataxia type 21	Criteria Provided Single Submitter		rs_2100695149	1 SubmittersRCV001647208