Total 9 pathogenic variants reported for Striatonigral degeneration, childhood-onset

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_018052.5(VAC14):c.1271G>T (p.Trp424Leu)	SNV Germline	Chr16:70762915	Pathogenic	Striatonigral degeneration, childhood-onset	No Assertion Criteria Provided	CA8147760	rs_762388639	1 SubmittersRCV000239574
NM_018052.5(VAC14):c.1528+1G>A	SNV Germline	Chr16:70744422	Pathogenic	Striatonigral degeneration, childhood-onset	No Assertion Criteria Provided	CA10586214	rs_879255555	1 SubmittersRCV000239487
NM_018052.5(VAC14):c.1744G>T (p.Ala582Ser)	SNV Germline	Chr16:70698729	Pathogenic	Striatonigral degeneration, childhood-onset	No Assertion Criteria Provided	CA10586215	rs_749094914	1 SubmittersRCV000239537
NM_018052.5(VAC14):c.1748C>T (p.Ser583Leu)	SNV Germline	Chr16:70698725	Pathogenic	Striatonigral degeneration, childhood-onset	No Assertion Criteria Provided	CA10586216	rs_879255645	1 SubmittersRCV000239591
NM_018052.5(VAC14):c.923T>A (p.Leu308Ter)	SNV Germline	Chr16:70781892	Pathogenic	Yunis-Varon syndrome Condition: not provided Striatonigral degeneration, childhood-onset	Criteria Provided Multiple Submitters No Conflicts	CA8147906	rs_769608639	3 SubmittersRCV000449608 RCV002522739 RCV004800412
NM_018052.5(VAC14):c.2005G>T (p.Val669Leu)	SNV Germline	Chr16:70695574	Conflicting classifications of pathogenicity	Striatonigral degeneration, childhood-onset Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA396589168	rs_1363536856	3 SubmittersRCV000984879 RCV001267003 RCV001662820
NM_018052.5(VAC14):c.1723C>T (p.Arg575Trp)	SNV Germline	Chr16:70698750	Conflicting classifications of pathogenicity	Striatonigral degeneration, childhood-onset Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8147536	rs_145938865	5 SubmittersRCV001333989 RCV001865799 RCV002546666
NM_018052.5(VAC14):c.104+2T>G	SNV Germline	Chr16:70800795	Likely pathogenic	Striatonigral degeneration, childhood-onset	Criteria Provided Single Submitter	CA396615110	rs_1015359196	1 SubmittersRCV002471609
NM_018052.5(VAC14):c.921C>A (p.Cys307Ter)	SNV Germline	Chr16:70781894	Likely pathogenic	Striatonigral degeneration, childhood-onset	Criteria Provided Single Submitter	CA396608438	rs_2507738804	1 SubmittersRCV003447872