C0398368[trait identifier] AND "MAGI'S LAB - Medical Genetics Laborato - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 598933	NM_001378328.1(CELSR1):c.6739+1G>A	CELSR1, LOC126863169	Single nucleotide variant (splice donor variant)	Lymphatic malformation	GPathogenic
Select item 598923	NM_001378328.1(CELSR1):c.5702-1G>C	CELSR1	Single nucleotide variant (splice acceptor variant)	Lymphatic malformation	GLikely pathogenic
Select item 598932	NM_001378328.1(CELSR1):c.5226+2T>A	CELSR1	Single nucleotide variant (splice donor variant)	Lymphatic malformation	GPathogenic
Select item 598924	NM_001378328.1(CELSR1):c.2042del (p.Asn681fs)	CELSR1 (N681fs)	Deletion (frameshift variant)	Lymphatic malformation	GLikely pathogenic
Select item 590904	NM_001378328.1(CELSR1):c.868G>T (p.Glu290Ter)	CELSR1 (E290*)	Single nucleotide variant (nonsense)	Lymphatic malformation	GLikely pathogenic

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