"Rady Children's Institute for Genomic Medicine, Rady Children's Hospi - 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 985139	NM_001320.7(CSNK2B):c.72+1G>A	CSNK2B	Single nucleotide variant (splice donor variant)	Poirier-Bienvenu neurodevelopmental syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1301884	NM_001320.7(CSNK2B):c.367+1G>A	CSNK2B	Single nucleotide variant (splice donor variant)	Poirier-Bienvenu neurodevelopmental syndrome	GPathogenic