Total 20 pathogenic variants reported for Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)	SNV Germline	Chr8:18075541	Pathogenic/Likely pathogenic	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Condition: not provided ASAH1-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA129940	rs_145873635	10 SubmittersRCV000029199 RCV000724837 RCV001270895
NM_177924.5(ASAH1):c.850G>T (p.Gly284Ter)	SNV Germline	Chr8:18059639	Pathogenic	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	No Assertion Criteria Provided	CA185927	rs_794729663	1 SubmittersRCV000157604
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn)	SNV Germline	Chr8:18064458	Pathogenic/Likely pathogenic	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Condition: not provided ASAH1-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA185930	rs_200455852	6 SubmittersRCV000157605 RCV000853058 RCV004551355
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys)	SNV Germline	Chr8:18064504	Pathogenic/Likely pathogenic	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Condition: not provided Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Farber lipogranulomatosis ASAH1-related disorders	Criteria Provided Multiple Submitters No Conflicts	CA4650862	rs_371666412	5 SubmittersRCV000416939 RCV001861470 RCV002502451 RCV004551416
NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile)	SNV Germline	Chr8:18062391	Conflicting classifications of pathogenicity	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Criteria Provided Conflicting Classifications		rs_766257867	2 SubmittersRCV000679928
NM_177924.5(ASAH1):c.124A>G (p.Thr42Ala)	SNV Germline	Chr8:18075542	Conflicting classifications of pathogenicity	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_779888892	3 SubmittersRCV000679927 RCV002531407
NM_177924.5(ASAH1):c.125+1G>A	SNV Germline	Chr8:18075540	Pathogenic	Condition: not provided Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1588999312	2 SubmittersRCV000820153 RCV001003311
NM_177924.5(ASAH1):c.1096A>C (p.Lys366Gln)	SNV Germline	Chr8:18058837	Likely pathogenic	Farber lipogranulomatosis Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1588973202	2 SubmittersRCV001003308 RCV004798880
NM_177924.5(ASAH1):c.997C>T (p.Arg333Cys)	SNV Germline	Chr8:18059385	Likely pathogenic	Farber lipogranulomatosis Condition: not provided Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_543697946	3 SubmittersRCV001003320 RCV001860534 RCV004796343
NM_177924.5(ASAH1):c.886C>T (p.Arg296Ter)	SNV Germline	Chr8:18059603	Pathogenic	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_771847002	3 SubmittersRCV001003338 RCV001544563
NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile)	SNV Germline	Chr8:18062409	Pathogenic	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Farber lipogranulomatosis	Criteria Provided Single Submitter		rs_1588978873	1 SubmittersRCV001003309
NM_177924.5(ASAH1):c.177C>G (p.Tyr59Ter)	SNV Germline	Chr8:18071339	Likely pathogenic	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Criteria Provided Single Submitter		rs_766395283	1 SubmittersRCV001003298
NM_177924.5(ASAH1):c.77C>G (p.Pro26Arg)	SNV Germline	Chr8:18083982	Pathogenic	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Criteria Provided Single Submitter		rs_886039750	1 SubmittersRCV001003312
NM_177924.5(ASAH1):c.118G>C (p.Gly40Arg)	SNV Germline	Chr8:18075548	Conflicting classifications of pathogenicity	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1800367831	2 SubmittersRCV001095795 RCV001856297
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile)	SNV Germline	Chr8:18084056	Pathogenic/Likely pathogenic	Condition: not provided Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Farber lipogranulomatosis Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_966267709	3 SubmittersRCV001507724 RCV001647301 RCV002506589
NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter)	SNV Germline	Chr8:18071330	Pathogenic/Likely pathogenic	Condition: not provided Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Farber lipogranulomatosis ASAH1-related disorders	Criteria Provided Multiple Submitters No Conflicts		rs_769683272	3 SubmittersRCV001780646 RCV002482308 RCV004738381
NM_177924.5(ASAH1):c.1157G>A (p.Arg386Gln)	SNV Germline	Chr8:18057565	Likely pathogenic	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002289101