C4310673[trait identifier] AND "3billion"[submitter] - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812082	NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter)	MBOAT7 (Y281* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 57	GPathogenic
Select item 1333419	NM_024298.5(MBOAT7):c.811dup (p.Arg271fs)	MBOAT7 (R198fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal recessive 57	GLikely pathogenic
Select item 268112	NM_024298.5(MBOAT7):c.758_778del (p.Glu253_Ala259del)	MBOAT7	Deletion (inframe_deletion)	Inborn genetic diseases +2 more	GPathogenic

Format

Sort by

Choose Destination

ClinVar