"Blueprint Genetics"[submitter] AND "NLRP1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 636958	NM_033004.4(NLRP1):c.3034C>T (p.Arg1012Trp)	NLRP1 (R1012W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636848	NM_033004.4(NLRP1):c.2864_2865del (p.Arg955fs)	NLRP1 (R955fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 636968	NM_033004.4(NLRP1):c.2311G>A (p.Glu771Lys)	NLRP1 (E771K)	Single nucleotide variant (missense variant)	NLRP1-related disorder +2 more	GUncertain significance

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