"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1297007	NM_194454.3(KRIT1):c.1959_1960insC (p.Lys654fs)	KRIT1 (K416fs +2 more)	Insertion (frameshift variant)	Cerebral cavernous malformation	GLikely pathogenic
Select item 976192	NM_194454.3(KRIT1):c.1268G>A (p.Arg423Gln)	KRIT1 (R185Q +2 more)	Single nucleotide variant (missense variant)	Cerebral cavernous malformation	GUncertain significance
Select item 5725	NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly)	KRIT1 (D137G)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation	GLikely pathogenic

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