C0000744[trait identifier] AND "Counsyl"[submitter] - 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 347020	NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly)	MTTP (R46G)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 557836	NM_001386140.1(MTTP):c.1558-2A>G	MTTP	Single nucleotide variant (splice acceptor variant)	Abetalipoproteinaemia	GLikely pathogenic
Select item 14243	NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter)	MTTP (G865* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic

Format

Sort by

Choose Destination