C2919945[trait identifier] AND "Seattle Children's Hospital Molecular - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344507	NM_031443.4(CCM2):c.147del (p.Leu49fs)	CCM2 (L49fs +1 more)	Deletion (frameshift variant +2 more)	Cerebral cavernous malformation	GPathogenic
Select item 2664280	NM_194454.3(KRIT1):c.1717_1720del (p.Gln573fs)	KRIT1 (Q335fs +2 more)	Microsatellite (frameshift variant)	Cerebral cavernous malformation	GPathogenic
Select item 1074766	NM_194454.3(KRIT1):c.1389_1390del (p.Ile463fs)	KRIT1 (I225fs +2 more)	Microsatellite (frameshift variant)	Cerebral cavernous malformation	GPathogenic

Format

Sort by

Choose Destination