ClinVar (all) for Orgtrack (Select 500097) - ClinVar

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

Format

Sort by

Choose Destination

Links from Orgtrack

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 626790	NM_000432.4(MYL2):c.431_432del (p.Pro144fs)	MYL2 (P144fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 55847	NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser)	FOXP1 (P568S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign