Total 5 pathogenic variants reported for Spinocerebellar ataxia type 34

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe)	SNV Germline	Chr6:79921662	Pathogenic	Spinocerebellar ataxia type 34 Stargardt disease 3 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Spinocerebellar ataxia type 34 ELOVL4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA170078	rs_587777598	3 SubmittersRCV000132563 RCV002483274 RCV003479020
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys)	SNV Germline	Chr6:79924970	Conflicting classifications of pathogenicity	Stargardt disease 3 Condition: not provided Spinocerebellar ataxia type 34 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Stargardt disease 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3901551	rs_148018494	6 SubmittersRCV000262008 RCV000595647 RCV000765894 RCV002524509
NM_022726.4(ELOVL4):c.736T>G (p.Trp246Gly)	SNV Germline	Chr6:79916817	Pathogenic	Spinocerebellar ataxia type 34 Condition: not provided	Criteria Provided Single Submitter	CA364655962	rs_1131692036	2 SubmittersRCV000494690 RCV000522609
NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr)	SNV Germline	Chr6:79921654	Pathogenic/Likely pathogenic	Spinocerebellar ataxia type 34 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA364656490	rs_1554162301	3 SubmittersRCV000504460 RCV001662494
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met)	SNV Germline	Chr6:79916855	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia type 34 ELOVL4-related disorder	Criteria Provided Conflicting Classifications		rs_1554162016	7 SubmittersRCV000659060 RCV001809734 RCV003994070