"3billion"[submitter] AND "SMPD1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1458477	NM_000543.5(SMPD1):c.148_151del (p.Ser50fs)	SMPD1 (S50fs)	Microsatellite (frameshift variant +2 more)	Niemann-Pick disease, type A +1 more	GPathogenic/Likely pathogenic
Select item 553306	NM_000543.5(SMPD1):c.581dup (p.Ala195fs)	SMPD1 (A194fs +1 more)	Duplication (frameshift variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 555444	NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg)	SMPD1 (G319R +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +1 more	GConflicting classifications of pathogenicity
Select item 385606	NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)	SMPD1 (R476Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1526231	NM_000543.5(SMPD1):c.1548T>G (p.His516Gln)	SMPD1 (H209Q +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +1 more	GUncertain significance
Select item 1526024	NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser)	SMPD1 (W266S +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +1 more	GUncertain significance
Select item 198093	NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)	APBB1, SMPD1 (R610del +3 more)	Microsatellite (inframe_deletion +2 more)	not specified +3 more	GPathogenic

ClinVar