ClinVar for MedGen (Select 1710326) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 932315	NM_001033046.4(CYBC1):c.6C>G (p.Tyr2Ter)	CYBC1 (Y2*)	Single nucleotide variant (nonsense +1 more)	Granulomatous disease, chronic, autosomal recessive, 5	GPathogenic
Select item 932314	NM_001033046.4(CYBC1):c.127G>A (p.Asp43Asn)	CYBC1 (D43N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance