ClinVar for MedGen (Select 140822) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2574622	NM_000877.4(IL1R1):c.391A>G (p.Lys131Glu)	IL1R1	Single nucleotide variant (missense variant +2 more)	Chronic multifocal osteomyelitis	GPathogenic
Select item 973944	NM_152649.4(MLKL):c.437G>A (p.Arg146Gln)	MLKL (R146Q)	Single nucleotide variant (missense variant)	Chronic multifocal osteomyelitis	Gassociation
Select item 973943	NM_152649.4(MLKL):c.394T>C (p.Ser132Pro)	MLKL (S132P)	Single nucleotide variant (missense variant)	Chronic multifocal osteomyelitis	Gassociation

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