"Baylor Genetics"[submitter] AND "BRF1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1027934	NM_001519.4(BRF1):c.1714C>G (p.Arg572Gly)	BRF1 (R334G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 689745	NM_001519.4(BRF1):c.1592AGA[2] (p.Lys533del)	BRF1 (K295del +5 more)	Microsatellite (inframe_deletion)	Cerebellar-facial-dental syndrome	GUncertain significance
Select item 689746	NM_001519.4(BRF1):c.779T>C (p.Leu260Pro)	BRF1 (L145P +4 more)	Single nucleotide variant (missense variant)	Cerebellar-facial-dental syndrome	GUncertain significance
Select item 1029076	NM_001100913.3(PACS2):c.58G>A (p.Val20Met)	BRF1, LOC130056677 +1 more (V20M)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 66 +1 more	GUncertain significance
Select item 625744	GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934)	BAG5, MIR380 +98 more	Copy number gain	not provided	GPathogenic
Select item 625708	GRCh37/hg19 14q32.32-32.33(chr14:103804791-105677579)	KLC1, MARK3 +30 more	Copy number loss	not provided	GLikely pathogenic

ClinVar