"Clinical Genomics Laboratory, Stanford Medicine"[submitter] AND "NFAS - 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 976448	NM_001160331.2(NFASC):c.2677C>T (p.Gln893Ter)	NFASC (Q878* +2 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GLikely pathogenic
Select item 976449	NM_001005388.3(NFASC):c.3556G>T (p.Glu1186Ter)	NFASC (E1008* +5 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with central and peripheral motor dysfunction	GLikely pathogenic