ClinVar for MedGen (Select 481305) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 503611	NM_018451.5(CENPJ):c.1132C>T (p.Arg378Ter)	CENPJ (R378*)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic
Select item 279750	NM_018451.5(CENPJ):c.289dup (p.Thr97fs)	CENPJ (T97fs)	Duplication (frameshift variant +1 more)	not provided +5 more	GPathogenic