ClinVar for MedGen (Select 5169) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374084	NM_000190.4(HMBS):c.400del (p.Thr133_Leu134insTer)	HMBS	Deletion (nonsense)	Acute intermittent porphyria +5 more	GPathogenic
Select item 374002	NM_001243133.2(NLRP3):c.1799A>G (p.Gln600Arg)	NLRP3 (Q602R +1 more)	Single nucleotide variant (missense variant)	Pericardial effusion +2 more	GLikely pathogenic