"Baylor Genetics"[submitter] AND "BCL11A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030618	NM_018014.4(BCL11A):c.2303C>G (p.Ser768Trp)	BCL11A (S768W +13 more)	Single nucleotide variant (missense variant +2 more)	Dias-Logan syndrome	GUncertain significance
Select item 1177341	NM_022893.4(BCL11A):c.1345del (p.Glu449fs)	BCL11A (E415fs +1 more)	Deletion (intron variant +1 more)	BCL11A-related BAFopathy	GPathogenic
Select item 1177340	NM_022893.4(BCL11A):c.512_519del (p.Thr171fs)	BCL11A (T137fs +1 more)	Deletion (frameshift variant)	BCL11A-related BAFopathy	GPathogenic
Select item 1177339	NM_022893.4(BCL11A):c.270C>G (p.Ile90Met)	BCL11A (I90M)	Single nucleotide variant (missense variant)	BCL11A-related BAFopathy	GLikely pathogenic
Select item 1029866	NM_022893.4(BCL11A):c.142T>C (p.Cys48Arg)	BCL11A (C48R)	Single nucleotide variant (missense variant)	Dias-Logan syndrome	GUncertain significance
Select item 625544	GRCh37/hg19 2p16.1-15(chr2:57445335-62733206)	B3GNT2, BCL11A +14 more	Copy number loss	not provided	GLikely pathogenic

ClinVar