Total 7 pathogenic variants reported for Acid sphingomyelinase deficiency

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000543.5(SMPD1):c.742G>T (p.Glu248Ter)	SNV Germline	Chr11:6391807	Pathogenic	Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type A Acid sphingomyelinase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA217299533	rs_200763423	3 SubmittersRCV001933891 RCV004571634 RCV005635328
NM_000543.5(SMPD1):c.668G>A (p.Cys223Tyr)	SNV Germline	Chr11:6391733	Pathogenic	Acid sphingomyelinase deficiency	Criteria Provided Single Submitter	CA379370731	rs_2134010914	1 SubmittersRCV002275717
NM_000543.5(SMPD1):c.1390G>T (p.Glu464Ter)	SNV Germline	Chr11:6393945	Pathogenic	Niemann-Pick disease, type A Acid sphingomyelinase deficiency	Criteria Provided Single Submitter	CA379375002	rs_2493820064	2 SubmittersRCV003159268 RCV005636854
NM_000543.5(SMPD1):c.1092-1G>A	SNV Unknown	Chr11:6393215	Likely pathogenic	Acid sphingomyelinase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005637810