"3billion"[submitter] AND "KRIT1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 265482	NM_194454.3(KRIT1):c.1731-2A>G	KRIT1	Single nucleotide variant (splice acceptor variant)	Cerebral cavernous malformation +1 more	GPathogenic
Select item 1320113	NM_194454.3(KRIT1):c.1444C>T (p.Gln482Ter)	KRIT1 (Q244* +2 more)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation	GPathogenic
Select item 1333479	NM_194454.3(KRIT1):c.1097del (p.Gly366fs)	KRIT1 (G128fs +2 more)	Deletion (frameshift variant)	Cerebral cavernous malformation	GPathogenic

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