Total 22 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 SubmittersRCV000029199RCV000724837RCV001270895
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 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Condition: not provided
ASAH1-related disorders		 Criteria Provided
Multiple Submitters
No Conflicts
 CA185930 rs_200455852

6 SubmittersRCV000157605RCV000853058RCV004551355
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 SubmittersRCV000416939RCV001861470RCV002502451RCV004551416
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
 CA4650789 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
 CA4651074 rs_779888892

3 SubmittersRCV000679927RCV002531407
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
 CA370434569 rs_1588999312

2 SubmittersRCV000820153RCV001003311
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
 CA370426949 rs_1588973202

2 SubmittersRCV001003308RCV004798880
NM_177924.5(ASAH1):c.997C>T (p.Arg333Cys) SNV
Germline		 Chr8:18059385 Pathogenic/Likely pathogenic Farber lipogranulomatosis
Condition: not provided
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA370427378 rs_543697946

4 SubmittersRCV001003320RCV001860534RCV004796343
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
 CA4650644 rs_771847002

3 SubmittersRCV001003338RCV001544563
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
 CA370430268 rs_1588978873

1 SubmittersRCV001003309
NM_177924.5(ASAH1):c.177C>G (p.Tyr59Ter) SNV
Germline		 Chr8:18071339 Pathogenic/Likely pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA370433961 rs_766395283

2 SubmittersRCV001003298RCV005093033
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
 CA370435698 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
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Farber lipogranulomatosis		 Criteria Provided
Conflicting Classifications
 CA370434584 rs_1800367831

3 SubmittersRCV001095795RCV001856297RCV005409774
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile) SNV
Germline		 Chr8:18084056 Pathogenic/Likely pathogenic Condition: not provided
Farber lipogranulomatosis
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA173159710 rs_966267709

4 SubmittersRCV001507724RCV002506589RCV001647301
NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter) SNV
Germline		 Chr8:18071330 Pathogenic/Likely pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Farber lipogranulomatosis
ASAH1-related disorders
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4650990 rs_769683272

3 SubmittersRCV002482308RCV004738381RCV001780646
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
 CA4650494 rs_769587137

1 SubmittersRCV002289101
NM_177924.5(ASAH1):c.177C>A (p.Tyr59Ter) SNV
Germline		 Chr8:18071339 Pathogenic Condition: not provided
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Farber lipogranulomatosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA370433962 rs_766395283

2 SubmittersRCV003104632RCV005356348