C0268243[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 556092	NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)	SMPD1 (L105P)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +1 more	GPathogenic/Likely pathogenic
Select item 371576	NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)	SMPD1 (S250R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GPathogenic/Likely pathogenic
Select item 813478	NM_000543.5(SMPD1):c.847G>A (p.Ala283Thr)	SMPD1 (A282T +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +1 more	GPathogenic
Select item 813421	NM_000543.5(SMPD1):c.1382_1383del (p.His461fs)	SMPD1 (H154fs +3 more)	Deletion (frameshift variant +1 more)	Niemann-Pick disease, type A +1 more	GPathogenic
Select item 167712	NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)	SMPD1 (R498H +4 more)	Single nucleotide variant (missense variant +1 more)	Sphingomyelin/cholesterol lipidosis +4 more	GPathogenic/Likely pathogenic
Select item 198094	NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)	SMPD1 (E517V +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +5 more	GConflicting classifications of pathogenicity
Select item 93318	NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)	SMPD1 (R542* +3 more)	Single nucleotide variant (nonsense +2 more)	Niemann-Pick disease, type A +4 more	GPathogenic

ClinVar