"Laboratory of Molecular Genetics, CHU Rennes"[submitter] AND "ARID1B" - 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 374248	NM_001374828.1(ARID1B):c.3655_3656dup (p.Pro1220fs)	ARID1B (P387fs +4 more)	Duplication (frameshift variant)	Coffin-Siris syndrome	GLikely pathogenic
Select item 374222	NM_001374828.1(ARID1B):c.5394+1G>A	ARID1B	Single nucleotide variant (splice donor variant)	Coffin-Siris syndrome	GLikely pathogenic
Select item 374240	NM_001374828.1(ARID1B):c.6726del (p.Asp2244fs)	ARID1B (D2121fs +4 more)	Deletion (frameshift variant)	dysmorphy +1 more	GLikely pathogenic

Format

Sort by

Choose Destination