C4748032[trait identifier] AND "Genomic Research Center, Shahid Behesh - 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 587574	NM_152743.4(BRAT1):c.393_422del (p.Gln132_Ala141del)	BRAT1	Deletion (inframe_deletion +2 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +2 more	GConflicting classifications of pathogenicity
Select item 2674701	NM_152743.4(BRAT1):c.398A>G (p.His133Arg)	BRAT1 (H133R)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	GLikely pathogenic