C0268242[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065786	NM_000543.5(SMPD1):c.679C>G (p.Leu227Val)	SMPD1 (L226V +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A	GLikely pathogenic
Select item 496822	NM_000543.5(SMPD1):c.1117C>T (p.Pro373Ser)	SMPD1 (P373S +2 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +2 more	GPathogenic/Likely pathogenic
Select item 3064400	NM_000543.5(SMPD1):c.1244C>T (p.Ala415Val)	SMPD1 (A108V +2 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A	GUncertain significance
Select item 2992	NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)	SMPD1 (H423Y +3 more)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type B +3 more	GPathogenic
Select item 445832	NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser)	SMPD1 (G492S +3 more)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type A +6 more	GUncertain significance
Select item 203428	NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn)	SMPD1 (K578N +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A	GUncertain significance

ClinVar