"Equipe Genetique des Anomalies du Developpement, Université de Bourgo - 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 1172617	NM_015354.3(NUP188):c.1851_1852delinsG (p.Cys617fs)	NUP188 (C617fs)	Indel (frameshift variant)	Microcephaly +1 more	GLikely pathogenic
Select item 1172616	NM_015354.3(NUP188):c.3515+1G>A	NUP188	Single nucleotide variant (splice donor variant)	Microcephaly +1 more	GLikely pathogenic